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 PER3 8863 broad.mit.edu 37 1 7887817 7887817 + Missense_Mutation SNP C T T TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr1:7887817C>T uc001aoo.2 + 17 2979 c.2804C>T c.(2803-2805)CCC>CTC p.P935L PER3_uc009vmg.1_Missense_Mutation_p.P943L|PER3_uc009vmh.1_Missense_Mutation_p.P936L|PER3_uc001aop.2_Missense_Mutation_p.P943L|PER3_uc010nzw.1_Missense_Mutation_p.P624L NM_016831 NP_058515 P56645 PER3_HUMAN period 3 935 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus signal transducer activity ovary(1)|pancreas(1)|skin(1) 3 Ovarian(185;0.0634)|all_lung(157;0.178) all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649) GAAGAGATGCCCAGACCCTCT 0.473 5 54 --- --- --- --- PASS VPS13D 55187 broad.mit.edu 37 1 12343573 12343573 + Missense_Mutation SNP G T T TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr1:12343573G>T uc001atv.2 + 21 5555 c.5414G>T c.(5413-5415)CGA>CTA p.R1805L VPS13D_uc001atw.2_Missense_Mutation_p.R1805L|VPS13D_uc001atx.2_Missense_Mutation_p.R993L NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13D isoform 1 1805 protein localization ovary(4)|pancreas(1) 5 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) AGTTACAATCGAGTTAACCGG 0.373 5 75 --- --- --- --- PASS CELA2B 51032 broad.mit.edu 37 1 15808768 15808768 + Missense_Mutation SNP G T T TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr1:15808768G>T uc001awl.2 + 4 261 c.236G>T c.(235-237)GGG>GTG p.G79V NM_015849 NP_056933 P08218 CEL2B_HUMAN elastase 2B preproprotein 79 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity ovary(1) 1 AGCTCCTCCGGGATCTACCGC 0.572 5 42 --- --- --- --- PASS HSPG2 3339 broad.mit.edu 37 1 22154752 22154752 + Missense_Mutation SNP G T T TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr1:22154752G>T uc001bfj.2 - 89 12445 c.12405C>A c.(12403-12405)TTC>TTA p.F4135L HSPG2_uc001bfi.2_Missense_Mutation_p.F152L|HSPG2_uc009vqd.2_Missense_Mutation_p.F4136L NM_005529 NP_005520 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 precursor 4135 EGF-like 3. F -> I (in Ref. 2; CAA44373). angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1) 9 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) TCCCACCTTTGAATCCATCTC 0.642 9 57 --- --- --- --- PASS CSMD2 114784 broad.mit.edu 37 1 34067979 34067979 + Missense_Mutation SNP T C C TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr1:34067979T>C uc001bxn.1 - 44 6735 c.6706A>G c.(6706-6708)ATC>GTC p.I2236V CSMD2_uc001bxm.1_Missense_Mutation_p.I2234V|CSMD2_uc001bxo.1_Missense_Mutation_p.I1107V NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 2236 Extracellular (Potential).|CUB 13. integral to membrane|plasma membrane protein binding ovary(6)|skin(5)|pancreas(1) 12 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) CAGATGGTGATGAAATCTCCA 0.542 5 40 --- --- --- --- PASS GJB4 127534 broad.mit.edu 37 1 35227351 35227351 + Missense_Mutation SNP G A A rs141637346 TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr1:35227351G>A uc001bxv.1 + 2 866 c.496G>A c.(496-498)GTG>ATG p.V166M GJB4_uc001bxw.3_Missense_Mutation_p.V166M NM_153212 NP_694944 Q9NTQ9 CXB4_HUMAN gap junction protein, beta 4 166 Extracellular (Potential). cell communication connexon complex|integral to membrane gap junction channel activity ovary(2)|central_nervous_system(1) 3 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234) GGCCTGCTCCGTGGAGCCTTG 0.582 8 23 --- --- --- --- PASS GLMN 11146 broad.mit.edu 37 1 92756981 92756981 + Missense_Mutation SNP C A A TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr1:92756981C>A uc001dor.2 - 4 394 c.279G>T c.(277-279)TTG>TTT p.L93F GLMN_uc009wdg.2_RNA|GLMN_uc001dos.2_Missense_Mutation_p.L93F NM_053274 NP_444504 Q92990 GLMN_HUMAN glomulin 93 muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis intracellular hepatocyte growth factor receptor binding skin(1) 1 all_lung(203;0.00827)|Lung NSC(277;0.0295) all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989) TTACCTTTACCAATAAATCAA 0.308 Multiple_Glomus_Tumors_(of_the_Skin)_Familial 5 25 --- --- --- --- PASS FMO5 2330 broad.mit.edu 37 1 146684906 146684906 + Silent SNP G T T TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr1:146684906G>T uc001epi.2 - 4 845 c.456C>A c.(454-456)ACC>ACA p.T152T FMO5_uc001eph.3_Silent_p.T152T|FMO5_uc001epj.2_Silent_p.T152T|FMO5_uc001epk.3_Silent_p.T152T NM_001461 NP_001452 P49326 FMO5_HUMAN flavin containing monooxygenase 5 isoform 1 152 integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding ovary(3) 3 all_hematologic(923;0.0487) GATGAGCATTGGTGTGATGGC 0.507 6 116 --- --- --- --- PASS SV2A 9900 broad.mit.edu 37 1 149880790 149880790 + Missense_Mutation SNP G T T TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr1:149880790G>T uc001etg.2 - 8 1824 c.1333C>A c.(1333-1335)CGC>AGC p.R445S SV2A_uc009wlk.2_5'Flank|SV2A_uc001eth.2_Missense_Mutation_p.R445S NM_014849 NP_055664 Q7L0J3 SV2A_HUMAN synaptic vesicle glycoprotein 2 445 Cytoplasmic (Potential). neurotransmitter transport cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane transmembrane transporter activity ovary(6)|pancreas(1) 7 Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) Levetiracetam(DB01202) AGAGTGATGCGCCGATATTCG 0.507 6 144 --- --- --- --- PASS RPRD2 23248 broad.mit.edu 37 1 150444878 150444878 + Missense_Mutation SNP G A A TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr1:150444878G>A uc009wlr.2 + 11 3655 c.3454G>A c.(3454-3456)GGG>AGG p.G1152R RPRD2_uc010pcc.1_3'UTR|RPRD2_uc001eup.3_Missense_Mutation_p.G1126R NM_015203 NP_056018 Q5VT52 RPRD2_HUMAN Regulation of nuclear pre-mRNA domain containing 1152 Poly-Gly. protein binding ovary(1) 1 GGCATCCCTTGGGGGTGGGGG 0.547 6 39 --- --- --- --- PASS FLG 2312 broad.mit.edu 37 1 152278619 152278619 + Missense_Mutation SNP G T T TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr1:152278619G>T uc001ezu.1 - 3 8779 c.8743C>A c.(8743-8745)CAT>AAT p.H2915N NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 2915 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) GATCCATGATGGTTTCTGGAA 0.567 Ichthyosis 7 263 --- --- --- --- PASS FLG 2312 broad.mit.edu 37 1 152280465 152280465 + Silent SNP G T T TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr1:152280465G>T uc001ezu.1 - 3 6933 c.6897C>A c.(6895-6897)TCC>TCA p.S2299S NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 2299 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) CTGATTGTCTGGAGCTCTCTG 0.552 Ichthyosis 9 429 --- --- --- --- PASS C1orf77 26097 broad.mit.edu 37 1 153615769 153615769 + Missense_Mutation SNP G T T TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr1:153615769G>T uc001fcm.1 + 5 782 c.470G>T c.(469-471)CGA>CTA p.R157L C1orf77_uc001fcn.1_Missense_Mutation_p.R158L|C1orf77_uc001fco.1_Missense_Mutation_p.R132L|C1orf77_uc001fcp.2_5'Flank|C1orf77_uc009woj.1_3'UTR NM_015607 NP_056422 Q9Y3Y2 CHTOP_HUMAN small protein rich in arginine and glycine 157 Arg/Gly-rich.|Interaction with PRMT1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus protein binding|RNA binding 0 all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) GGTGGTGTTCGAGGTCGTGGA 0.562 7 123 --- --- --- --- PASS UBAP2L 9898 broad.mit.edu 37 1 154227742 154227742 + Missense_Mutation SNP C A A TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr1:154227742C>A uc001fep.3 + 17 2191 c.2024C>A c.(2023-2025)TCC>TAC p.S675Y UBAP2L_uc009wot.2_Missense_Mutation_p.S675Y|UBAP2L_uc010pek.1_Missense_Mutation_p.S667Y|UBAP2L_uc010pel.1_Missense_Mutation_p.S685Y|UBAP2L_uc010pen.1_Missense_Mutation_p.S589Y|UBAP2L_uc001feq.2_5'UTR|UBAP2L_uc001fer.2_5'Flank NM_014847 NP_055662 Q14157 UBP2L_HUMAN ubiquitin associated protein 2-like isoform a 675 binding of sperm to zona pellucida protein binding ovary(1)|central_nervous_system(1) 2 all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) CATTCATCCTCCTTGGGTGGC 0.498 6 71 --- --- --- --- PASS ASH1L 55870 broad.mit.edu 37 1 155317595 155317595 + Missense_Mutation SNP A G G TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr1:155317595A>G uc009wqq.2 - 20 8150 c.7670T>C c.(7669-7671)ATT>ACT p.I2557T RAG1AP1_uc010pey.1_Intron|ASH1L_uc001fkt.2_Missense_Mutation_p.I2552T|MIR555_hsa-mir-555|MI0003561_5'Flank NM_018489 NP_060959 Q9NR48 ASH1L_HUMAN absent, small, or homeotic 1-like 2557 cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 11 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) CTCTCCCACAATCTCATCAAT 0.493 7 78 --- --- --- --- PASS MEX3A 92312 broad.mit.edu 37 1 156047123 156047123 + Nonsense_Mutation SNP C A A TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr1:156047123C>A uc001fnd.3 - 2 805 c.805G>T c.(805-807)GAG>TAG p.E269* NM_001093725 NP_001087194 A1L020 MEX3A_HUMAN MEX3A protein 269 KH 2. cytoplasmic mRNA processing body|nucleus RNA binding|zinc ion binding 0 Hepatocellular(266;0.158)|all_neural(408;0.195) CCCGTGATCTCGAACACGGGG 0.602 3 16 --- --- --- --- PASS CCT3 7203 broad.mit.edu 37 1 156287294 156287294 + Silent SNP G T T TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr1:156287294G>T uc001fol.1 - 9 1024 c.804C>A c.(802-804)CTC>CTA p.L268L CCT3_uc001fom.1_Silent_p.L267L|CCT3_uc001fon.1_Silent_p.L230L|CCT3_uc010phj.1_Silent_p.L222L|CCT3_uc010phk.1_Silent_p.L222L|CCT3_uc010phl.1_Silent_p.L222L NM_005998 NP_005989 P49368 TCPG_HUMAN chaperonin containing TCP1, subunit 3 isoform a 268 'de novo' posttranslational protein folding cytoskeleton|cytosol|plasma membrane ATP binding|unfolded protein binding ovary(1)|skin(1) 2 Hepatocellular(266;0.158) CCTCCATCTGGAGAATTCGGG 0.463 7 162 --- --- --- --- PASS INSRR 3645 broad.mit.edu 37 1 156819146 156819146 + Missense_Mutation SNP G T T TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr1:156819146G>T uc010pht.1 - 6 1590 c.1336C>A c.(1336-1338)CCG>ACG p.P446T NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron NM_014215 NP_055030 P14616 INSRR_HUMAN insulin receptor-related receptor precursor 446 protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity lung(11)|ovary(5)|skin(2)|kidney(1)|central_nervous_system(1) 20 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CAGAGGCGCGGGTTGAAGGCG 0.612 6 83 --- --- --- --- PASS PEAR1 375033 broad.mit.edu 37 1 156882414 156882414 + Nonsense_Mutation SNP G T T TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr1:156882414G>T uc001fqj.1 + 17 2325 c.2209G>T c.(2209-2211)GGA>TGA p.G737* PEAR1_uc001fqk.1_Nonsense_Mutation_p.G362* NM_001080471 NP_001073940 Q5VY43 PEAR1_HUMAN platelet endothelial aggregation receptor 1 737 integral to membrane ovary(2)|central_nervous_system(1) 3 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) TTGCAGGATTGGTGAGTTCTT 0.602 5 52 --- --- --- --- PASS CD1A 909 broad.mit.edu 37 1 158225830 158225830 + Missense_Mutation SNP T G G TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr1:158225830T>G uc001frt.2 + 3 895 c.362T>G c.(361-363)CTG>CGG p.L121R NM_001763 NP_001754 P06126 CD1A_HUMAN CD1A antigen precursor 121 Extracellular (Potential). antigen processing and presentation|immune response endosome membrane|integral to plasma membrane|MHC class I protein complex pancreas(2)|skin(1) 3 all_hematologic(112;0.0378) Antithymocyte globulin(DB00098) GGCTGTGAGCTGCACTCTGGA 0.423 7 36 --- --- --- --- PASS PRDX6 9588 broad.mit.edu 37 1 173454564 173454564 + Missense_Mutation SNP G T T TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr1:173454564G>T uc001giy.1 + 3 368 c.317G>T c.(316-318)AGG>ATG p.R106M NM_004905 NP_004896 P30041 PRDX6_HUMAN peroxiredoxin 6 106 Thioredoxin. cell redox homeostasis|phospholipid catabolic process cytoplasmic membrane-bounded vesicle|cytosol|lysosome peroxiredoxin activity|phospholipase A2 activity|protein binding central_nervous_system(1) 1 ATCGATGATAGGAATCGGGAG 0.448 5 45 --- --- --- --- PASS CACNA1E 777 broad.mit.edu 37 1 181680149 181680149 + Missense_Mutation SNP G A A TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr1:181680149G>A uc001gow.2 + 8 1280 c.1115G>A c.(1114-1116)CGC>CAC p.R372H CACNA1E_uc009wxs.2_Missense_Mutation_p.R279H NM_000721 NP_000712 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, 372 Cytoplasmic (Potential). energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(3)|central_nervous_system(2)|pancreas(1) 6 AAGCTGCGGCGCCAGCAGCAG 0.567 10 68 --- --- --- --- PASS APOB 338 broad.mit.edu 37 2 21228607 21228607 + Silent SNP G C C TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr2:21228607G>C uc002red.2 - 26 11261 c.11133C>G c.(11131-11133)ACC>ACG p.T3711T NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 3711 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TGGGGTTTTTGGTGTACACAA 0.403 8 58 --- --- --- --- PASS C2orf39 92749 broad.mit.edu 37 2 26671582 26671582 + Missense_Mutation SNP G T T rs145706376 byFrequency TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr2:26671582G>T uc002rhg.2 + 11 1494 c.1420G>T c.(1420-1422)GCC>TCC p.A474S NM_145038 NP_659475 Q96MC2 CC164_HUMAN hypothetical protein LOC92749 474 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGAAGAGGCCGCCGCGGAACC 0.507 4 73 --- --- --- --- PASS BIRC6 57448 broad.mit.edu 37 2 32773032 32773032 + Missense_Mutation SNP C T T TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr2:32773032C>T uc010ezu.2 + 64 13060 c.12926C>T c.(12925-12927)GCC>GTC p.A4309V NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat-containing 6 4309 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1) 14 Acute lymphoblastic leukemia(172;0.155) GTGGAACAAGCCTTAACTAAG 0.403 5 47 --- --- --- --- PASS KDM3A 55818 broad.mit.edu 37 2 86705771 86705771 + Silent SNP G A A TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr2:86705771G>A uc002sri.3 + 15 2556 c.2229G>A c.(2227-2229)GCG>GCA p.A743A KDM3A_uc010ytj.1_Silent_p.A743A|KDM3A_uc010ytk.1_Silent_p.A691A NM_018433 NP_060903 Q9Y4C1 KDM3A_HUMAN jumonji domain containing 1A 743 androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent cytoplasm|nucleus androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen breast(2)|ovary(1)|central_nervous_system(1)|skin(1) 5 CTGTAAGAGCGAAATGGGGAA 0.403 18 42 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 2 89326856 89326856 + RNA SNP A C C TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr2:89326856A>C uc010ytr.1 - 68 c.6322T>G uc002stl.2_Intron Parts of antibodies, mostly variable regions. TACCAGGCTAAGTAGCTGCTA 0.572 8 103 --- --- --- --- PASS CKAP2L 150468 broad.mit.edu 37 2 113498469 113498469 + Silent SNP C G G TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr2:113498469C>G uc002tie.2 - 8 2017 c.1938G>C c.(1936-1938)ACG>ACC p.T646T CKAP2L_uc002tif.2_Silent_p.T235T|CKAP2L_uc010yxp.1_Silent_p.T481T|uc002tid.2_Intron NM_152515 NP_689728 Q8IYA6 CKP2L_HUMAN cytoskeleton associated protein 2-like 646 centrosome 0 GGGGTGTCGCCGTGACTTGTT 0.433 35 138 --- --- --- --- PASS CCDC74A 90557 broad.mit.edu 37 2 132288338 132288338 + Missense_Mutation SNP G A A rs140463466 byFrequency TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr2:132288338G>A uc002tta.2 + 3 534 c.482G>A c.(481-483)CGC>CAC p.R161H CCDC74A_uc002ttb.2_Intron NM_138770 NP_620125 Q96AQ1 CC74A_HUMAN coiled-coil domain containing 74A 161 skin(1) 1 GACACTGTGCGCTCTCCTGCA 0.627 13 21 --- --- --- --- PASS SCN7A 6332 broad.mit.edu 37 2 167319016 167319016 + Silent SNP A G G TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr2:167319016A>G uc002udu.1 - 9 1093 c.966T>C c.(964-966)TGT>TGC p.C322C SCN7A_uc010fpm.1_RNA NM_002976 NP_002967 Q01118 SCN7A_HUMAN sodium channel, voltage-gated, type VII, alpha 322 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity large_intestine(1) 1 CAGCTTTTACACACACATATC 0.378 6 30 --- --- --- --- PASS LRP2 4036 broad.mit.edu 37 2 170009390 170009390 + Missense_Mutation SNP C T T rs142934522 byFrequency TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr2:170009390C>T uc002ues.2 - 67 12593 c.12380G>A c.(12379-12381)CGC>CAC p.R4127H NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 4127 Extracellular (Potential). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) AAGATTATTGCGGCCGGATTC 0.473 24 211 --- --- --- --- PASS SLC25A12 8604 broad.mit.edu 37 2 172700882 172700882 + Silent SNP G T T TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr2:172700882G>T uc002uhh.2 - 5 551 c.462C>A c.(460-462)CTC>CTA p.L154L SLC25A12_uc010fqh.2_Silent_p.L47L|SLC25A12_uc010zdv.1_RNA NM_003705 NP_003696 O75746 CMC1_HUMAN solute carrier family 25, member 12 154 EF-hand 3. gluconeogenesis|malate-aspartate shuttle|response to calcium ion integral to membrane|mitochondrial inner membrane calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding 0 OV - Ovarian serous cystadenocarcinoma(117;0.216) L-Aspartic Acid(DB00128) AGCTCACCTGGAGAAACTGCG 0.348 5 68 --- --- --- --- PASS COL5A2 1290 broad.mit.edu 37 2 189927746 189927746 + Missense_Mutation SNP G T T TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr2:189927746G>T uc002uqk.2 - 28 2188 c.1913C>A c.(1912-1914)CCT>CAT p.P638H COL5A2_uc010frx.2_Missense_Mutation_p.P214H NM_000393 NP_000384 P05997 CO5A2_HUMAN alpha 2 type V collagen preproprotein 638 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) CCTCTGCCCAGGAACTCCAGC 0.353 7 101 --- --- --- --- PASS RFTN2 130132 broad.mit.edu 37 2 198498590 198498590 + Silent SNP T A A TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr2:198498590T>A uc002uuo.3 - 4 972 c.570A>T c.(568-570)TCA>TCT p.S190S NM_144629 NP_653230 Q52LD8 RFTN2_HUMAN raftlin family member 2 190 plasma membrane 0 AGTTTTCATCTGAACCGTGTC 0.398 7 50 --- --- --- --- PASS ALS2 57679 broad.mit.edu 37 2 202625741 202625741 + Nonsense_Mutation SNP C A A TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr2:202625741C>A uc002uyo.2 - 4 1332 c.976G>T c.(976-978)GGA>TGA p.G326* ALS2_uc002uyp.3_Nonsense_Mutation_p.G326*|ALS2_uc002uyq.2_Nonsense_Mutation_p.G326*|ALS2_uc002uyr.2_Nonsense_Mutation_p.G326* NM_020919 NP_065970 Q96Q42 ALS2_HUMAN alsin isoform 1 326 cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity skin(5)|lung(1)|breast(1) 7 TCAGTTGTTCCCATGACATTT 0.433 7 103 --- --- --- --- PASS VIL1 7429 broad.mit.edu 37 2 219296605 219296605 + Missense_Mutation SNP T A A TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr2:219296605T>A uc002via.2 + 11 1193 c.1128T>A c.(1126-1128)GAT>GAA p.D376E VIL1_uc010zke.1_Missense_Mutation_p.D65E|VIL1_uc002vib.2_Missense_Mutation_p.D376E NM_007127 NP_009058 P09327 VILI_HUMAN villin 1 376 Core. actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity ovary(1) 1 Renal(207;0.0474) Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TGAAGTTCGATGCCACATCCA 0.493 5 17 --- --- --- --- PASS USP37 57695 broad.mit.edu 37 2 219328034 219328034 + Missense_Mutation SNP A C C TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr2:219328034A>C uc002vie.2 - 22 2975 c.2522T>G c.(2521-2523)CTT>CGT p.L841R USP37_uc010fvs.1_Missense_Mutation_p.L841R|USP37_uc010zkf.1_Missense_Mutation_p.L841R|USP37_uc002vif.2_Missense_Mutation_p.L841R|USP37_uc002vig.2_Missense_Mutation_p.L747R NM_020935 NP_065986 Q86T82 UBP37_HUMAN ubiquitin specific peptidase 37 841 UIM 3. ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|ubiquitin thiolesterase activity skin(3)|ovary(1)|prostate(1) 5 Renal(207;0.0915) Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487) CACACCTTGAAGACTTAACTC 0.234 9 87 --- --- --- --- PASS ZFAND2B 130617 broad.mit.edu 37 2 220072369 220072369 + Splice_Site SNP G T T TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr2:220072369G>T uc002vka.2 + 3 323 c.151_splice c.e3-1 p.D51_splice ZFAND2B_uc010zkt.1_Splice_Site_p.D51_splice|ZFAND2B_uc010fwd.1_Splice_Site_p.D51_splice|ZFAND2B_uc002vjy.1_Splice_Site_p.D51_splice|ZFAND2B_uc002vjz.1_Splice_Site_p.D51_splice|ZFAND2B_uc002vkb.1_Splice_Site NM_138802 NP_620157 Q8WV99 ZFN2B_HUMAN zinc finger, AN1-type domain 2B endoplasmic reticulum protein binding|zinc ion binding 0 Renal(207;0.0915) Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CTTGACTACAGGATATCCAGG 0.537 5 57 --- --- --- --- PASS TRPM8 79054 broad.mit.edu 37 2 234878421 234878421 + Missense_Mutation SNP C A A TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr2:234878421C>A uc002vvh.2 + 16 2148 c.2108C>A c.(2107-2109)CCC>CAC p.P703H TRPM8_uc010fyj.2_Intron NM_024080 NP_076985 Q7Z2W7 TRPM8_HUMAN transient receptor potential cation channel, 703 Helical; Name=1; (Potential). integral to membrane skin(4) 4 Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224) Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108) Menthol(DB00825) TTTATTATACCCTTGGTGGGC 0.423 14 81 --- --- --- --- PASS CCBP2 1238 broad.mit.edu 37 3 42906223 42906223 + Missense_Mutation SNP C A A TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr3:42906223C>A uc003cme.2 + 3 408 c.229C>A c.(229-231)CGC>AGC p.R77S CCBP2_uc003cmd.1_Missense_Mutation_p.R77S|CCBP2_uc003cmf.2_Missense_Mutation_p.R77S|CCBP2_uc003cmg.2_Intron|CYP8B1_uc010hif.2_Intron NM_001296 NP_001287 O00590 CCBP2_HUMAN chemokine binding protein 2 77 Cytoplasmic (Potential). chemotaxis|immune response|multicellular organismal development integral to plasma membrane C-X-C chemokine receptor activity lung(4)|skin(1) 5 KIRC - Kidney renal clear cell carcinoma(284;0.241) TTACGTGCCTCGCAGGCGGAT 0.537 4 74 --- --- --- --- PASS DNAH1 25981 broad.mit.edu 37 3 52417939 52417939 + Silent SNP C A A TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr3:52417939C>A uc011bef.1 + 52 8475 c.8214C>A c.(8212-8214)ACC>ACA p.T2738T DNAH1_uc003ddv.2_5'Flank NM_015512 NP_056327 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 2738 AAA 4 (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity large_intestine(3) 3 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) ACTGCTGTACCATCGACTGGT 0.552 4 17 --- --- --- --- PASS ITIH3 3699 broad.mit.edu 37 3 52833895 52833895 + Missense_Mutation SNP C A A TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr3:52833895C>A uc003dfv.2 + 9 1069 c.1033C>A c.(1033-1035)CAG>AAG p.Q345K ITIH3_uc011bek.1_Missense_Mutation_p.Q345K NM_002217 NP_002208 Q06033 ITIH3_HUMAN inter-alpha (globulin) inhibitor H3 345 VWFA. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity ovary(2)|liver(1) 3 BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496) CGAGAACCTCCAGGAGGCCAG 0.542 5 55 --- --- --- --- PASS HCLS1 3059 broad.mit.edu 37 3 121363748 121363748 + Nonsense_Mutation SNP C A A TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr3:121363748C>A uc003eeh.3 - 5 441 c.316G>T c.(316-318)GAG>TAG p.E106* HCLS1_uc011bjj.1_Nonsense_Mutation_p.E106*|HCLS1_uc011bjk.1_RNA|HCLS1_uc011bjl.1_Nonsense_Mutation_p.E106* NM_005335 NP_005326 P14317 HCLS1_HUMAN hematopoietic cell-specific Lyn substrate 1 106 Cortactin 1. erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus mitochondrion|nucleus|plasma membrane DNA binding|sequence-specific DNA binding transcription factor activity 0 GBM - Glioblastoma multiforme(114;0.0912) TTCTCCACCTCGGCAACATAC 0.463 4 85 --- --- --- --- PASS SLC15A2 6565 broad.mit.edu 37 3 121631906 121631906 + Missense_Mutation SNP G T T TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr3:121631906G>T uc003eep.2 + 5 620 c.467G>T c.(466-468)GGG>GTG p.G156V SLC15A2_uc011bjn.1_Missense_Mutation_p.G125V NM_021082 NP_066568 Q16348 S15A2_HUMAN peptide transporter 2 isoform a 156 Helical; (Potential). protein transport integral to plasma membrane peptide:hydrogen symporter activity|protein binding skin(1) 1 GBM - Glioblastoma multiforme(114;0.0967) Cefadroxil(DB01140) ATAGCTTTGGGGACAGGAGGC 0.418 10 326 --- --- --- --- PASS PIK3CA 5290 broad.mit.edu 37 3 178927980 178927980 + Missense_Mutation SNP T C C rs121913272 TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr3:178927980T>C uc003fjk.2 + 8 1415 c.1258T>C c.(1258-1260)TGT>CGT p.C420R NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 420 C2 PI3K-type. C -> R (in cancer; shows an increase in lipid kinase activity; may increase the affinity for lipid membranes). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.C420R(26) breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TAAGGAACACTGTCCATTGGC 0.328 C420R(EFM192A_BREAST)|C420R(OVISE_OVARY)|C420R(HEC151_ENDOMETRIUM)|C420R(CCK81_LARGE_INTESTINE) 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) 19 23 --- --- --- --- PASS ECE2 9718 broad.mit.edu 37 3 183995720 183995720 + Silent SNP C T T TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr3:183995720C>T uc003fni.3 + 5 878 c.840C>T c.(838-840)ACC>ACT p.T280T ECE2_uc011brg.1_Silent_p.T208T|ECE2_uc011brh.1_Silent_p.T133T|ECE2_uc003fnl.3_Silent_p.T208T|ECE2_uc003fnm.3_Silent_p.T162T|ECE2_uc003fnk.3_Silent_p.T133T|ECE2_uc011bri.1_Silent_p.T195T|ECE2_uc010hxv.2_5'UTR NM_014693 NP_055508 O60344 ECE2_HUMAN endothelin converting enzyme 2 isoform A 280 Lumenal (Potential).|Endothelin-converting enzyme 2 region. brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing cytoplasmic vesicle membrane|Golgi membrane|integral to membrane metal ion binding|metalloendopeptidase activity|methyltransferase activity ovary(2)|skin(2) 4 all_cancers(143;1.39e-10)|Ovarian(172;0.0339) Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) CAGAAAACACCACCTTCAACT 0.557 11 140 --- --- --- --- PASS FGF12 2257 broad.mit.edu 37 3 192125875 192125875 + Silent SNP G T T TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr3:192125875G>T uc003fsx.2 - 1 964 c.138C>A c.(136-138)CTC>CTA p.L46L FGF12_uc003fsy.2_Intron NM_021032 NP_066360 P61328 FGF12_HUMAN fibroblast growth factor 12 isoform 1 46 cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction extracellular space|nucleus growth factor activity|heparin binding ovary(1)|skin(1)|lung(1)|pancreas(1) 4 all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247) Lung NSC(153;0.21) LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06) GBM - Glioblastoma multiforme(46;0.00032) TGAACACCCCGAGGACGTGCC 0.687 5 125 --- --- --- --- PASS SLIT2 9353 broad.mit.edu 37 4 20598114 20598114 + Nonsense_Mutation SNP G T T TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr4:20598114G>T uc003gpr.1 + 32 3601 c.3397G>T c.(3397-3399)GGA>TGA p.G1133* SLIT2_uc003gps.1_Nonsense_Mutation_p.G1125* NM_004787 NP_004778 O94813 SLIT2_HUMAN slit homolog 2 precursor 1133 EGF-like 6. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding central_nervous_system(4)|skin(4)|ovary(3) 11 TTGTCAGAATGGAGCTCAGTG 0.398 4 26 --- --- --- --- PASS ENAM 10117 broad.mit.edu 37 4 71509219 71509219 + Silent SNP C A A TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr4:71509219C>A uc011caw.1 + 9 2357 c.2076C>A c.(2074-2076)ACC>ACA p.T692T NM_031889 NP_114095 Q9NRM1 ENAM_HUMAN enamelin precursor 692 bone mineralization|odontogenesis proteinaceous extracellular matrix structural constituent of tooth enamel ovary(3) 3 Lung(101;0.235) AACAATATACCTCAAATCAGC 0.413 6 87 --- --- --- --- PASS PPEF2 5470 broad.mit.edu 37 4 76788552 76788552 + Nonsense_Mutation SNP G T T TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr4:76788552G>T uc003hix.2 - 14 2027 c.1670C>A c.(1669-1671)TCG>TAG p.S557* PPEF2_uc003hiy.2_RNA|PPEF2_uc003hiz.1_Nonsense_Mutation_p.S557* NM_006239 NP_006230 O14830 PPE2_HUMAN serine/threonine protein phosphatase with 557 detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception cytoplasm|photoreceptor inner segment|photoreceptor outer segment calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity ovary(2)|lung(1)|central_nervous_system(1) 4 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) TCTCAGAGCCGACTCCTCCAC 0.398 4 31 --- --- --- --- PASS ANKRD56 345079 broad.mit.edu 37 4 77816806 77816806 + Missense_Mutation SNP G T T TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr4:77816806G>T uc003hki.2 - 1 2197 c.2197C>A c.(2197-2199)CCT>ACT p.P733T NM_001029870 NP_001025041 A6NEL2 ANR56_HUMAN ankyrin repeat domain 56 733 0 GGATAGACAGGGAAAATGGGC 0.502 9 327 --- --- --- --- PASS FAT4 79633 broad.mit.edu 37 4 126239230 126239230 + Missense_Mutation SNP G T T TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr4:126239230G>T uc003ifj.3 + 1 1664 c.1664G>T c.(1663-1665)CGG>CTG p.R555L NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 555 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 ATAAGTGCCCGGGACCAGGGA 0.517 OREG0016317 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 19 --- --- --- --- PASS KIAA0922 23240 broad.mit.edu 37 4 154525134 154525134 + Silent SNP C A A TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr4:154525134C>A uc003inm.3 + 25 3019 c.2967C>A c.(2965-2967)ACC>ACA p.T989T KIAA0922_uc010ipp.2_Silent_p.T990T|KIAA0922_uc010ipq.2_Silent_p.T758T NM_015196 NP_056011 A2VDJ0 T131L_HUMAN hypothetical protein LOC23240 isoform 2 989 Cytoplasmic (Potential). integral to membrane upper_aerodigestive_tract(1)|ovary(1) 2 all_hematologic(180;0.093) Renal(120;0.118) AACACAAAACCAGCACAGCTG 0.517 4 24 --- --- --- --- PASS HMGB2 3148 broad.mit.edu 37 4 174254762 174254762 + Missense_Mutation SNP C A A TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr4:174254762C>A uc011ckc.1 - 1 159 c.39G>T c.(37-39)ATG>ATT p.M13I HMGB2_uc003ita.3_Missense_Mutation_p.M13I|HMGB2_uc003itb.2_Missense_Mutation_p.M13I|HMGB2_uc003itc.2_Missense_Mutation_p.M13I NM_001130689 NP_001124161 P26583 HMGB2_HUMAN high-mobility group box 2 13 HMG box 1. base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding 0 Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122) all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249) CGTACGAGGACATTTTGCCCC 0.602 10 17 --- --- --- --- PASS HEATR7B2 133558 broad.mit.edu 37 5 41055934 41055934 + Missense_Mutation SNP T G G TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr5:41055934T>G uc003jmj.3 - 10 1433 c.943A>C c.(943-945)ATG>CTG p.M315L HEATR7B2_uc003jmi.3_Intron NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN HEAT repeat family member 7B2 315 HEAT 4. binding ovary(6)|central_nervous_system(2) 8 AAAAATTCCATCAGCTCTCCA 0.398 10 54 --- --- --- --- PASS DHX29 54505 broad.mit.edu 37 5 54555722 54555722 + Silent SNP A G G TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr5:54555722A>G uc003jpx.2 - 26 4131 c.4011T>C c.(4009-4011)GAT>GAC p.D1337D DHX29_uc010ivw.2_RNA NM_019030 NP_061903 Q7Z478 DHX29_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 29 1337 ATP binding|ATP-dependent helicase activity|translation initiation factor activity ovary(2)|central_nervous_system(1)|skin(1) 4 Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183) TTAAAACTGAATCAATGAGAA 0.373 10 51 --- --- --- --- PASS CAMK4 814 broad.mit.edu 37 5 110809031 110809031 + Silent SNP T C C TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr5:110809031T>C uc011cvj.1 + 9 747 c.648T>C c.(646-648)TGT>TGC p.C216C CAMK4_uc003kpf.2_Silent_p.C216C|CAMK4_uc010jbv.2_Silent_p.C19C NM_001744 NP_001735 Q16566 KCC4_HUMAN calcium/calmodulin-dependent protein kinase IV 216 Protein kinase. activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission cytosol|nucleoplasm ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity ovary(3)|lung(2) 5 all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109) TTAGAGGTTGTGCCTATGGAC 0.338 7 50 --- --- --- --- PASS PCDHB16 57717 broad.mit.edu 37 5 140564336 140564336 + Silent SNP G A A TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr5:140564336G>A uc003liv.2 + 1 3357 c.2202G>A c.(2200-2202)GGG>GGA p.G734G PCDHB9_uc003liw.1_5'Flank NM_020957 NP_066008 Q9NRJ7 PCDBG_HUMAN protocadherin beta 16 precursor 734 Cytoplasmic (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCTTTCCAGGGCGTCTGGTGG 0.627 24 69 --- --- --- --- PASS PPARGC1B 133522 broad.mit.edu 37 5 149212301 149212301 + Nonsense_Mutation SNP C A A rs75266799 by1000genomes TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr5:149212301C>A uc003lrc.2 + 5 707 c.665C>A c.(664-666)TCG>TAG p.S222* PPARGC1B_uc003lrb.1_Nonsense_Mutation_p.S222*|PPARGC1B_uc003lrd.2_Nonsense_Mutation_p.S183*|PPARGC1B_uc003lrf.2_Nonsense_Mutation_p.S201*|PPARGC1B_uc003lre.1_Nonsense_Mutation_p.S201* NM_133263 NP_573570 Q86YN6 PRGC2_HUMAN peroxisome proliferator-activated receptor 222 estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter mediator complex AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) CACCTCACCTCGGCACAGTGC 0.617 5 122 --- --- --- --- PASS DSP 1832 broad.mit.edu 37 6 7584770 7584770 + Silent SNP C A A TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr6:7584770C>A uc003mxp.1 + 24 7554 c.7275C>A c.(7273-7275)ACC>ACA p.T2425T DSP_uc003mxq.1_Silent_p.T1826T NM_004415 NP_004406 P15924 DESP_HUMAN desmoplakin isoform I 2425 Plectin 11.|Globular 2. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton central_nervous_system(6)|ovary(2)|skin(1) 9 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) AAAATCTTACCTATCTGCAAC 0.398 6 121 --- --- --- --- PASS C6orf105 84830 broad.mit.edu 37 6 11723606 11723606 + Nonsense_Mutation SNP C A A TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr6:11723606C>A uc003nab.2 - 5 922 c.634G>T c.(634-636)GAG>TAG p.E212* C6orf105_uc003naa.2_RNA|C6orf105_uc011dip.1_Nonsense_Mutation_p.E230* NM_032744 NP_116133 Q96IZ2 CF105_HUMAN hypothetical protein LOC84830 isoform 2 212 integral to membrane 0 Ovarian(93;0.0848)|Breast(50;0.0871) all_hematologic(90;0.135) Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.193) TTGAGCTTCTCTCCAAGTAGG 0.493 8 218 --- --- --- --- PASS HIVEP1 3096 broad.mit.edu 37 6 12164614 12164614 + Missense_Mutation SNP C G G TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr6:12164614C>G uc003nac.2 + 9 8256 c.8077C>G c.(8077-8079)CTA>GTA p.L2693V HIVEP1_uc011diq.1_RNA NM_002114 NP_002105 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer 2693 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) GCCCACAGCACTACCGCGGAG 0.522 10 38 --- --- --- --- PASS OR12D2 26529 broad.mit.edu 37 6 29364649 29364649 + Missense_Mutation SNP A T T TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr6:29364649A>T uc003nmf.3 + 1 234 c.173A>T c.(172-174)TAT>TTT p.Y58F NM_013936 NP_039224 P58182 O12D2_HUMAN olfactory receptor, family 12, subfamily D, 58 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 TCCCTTATGTATTTCTTCCTG 0.448 14 30 --- --- --- --- PASS TAP1 6890 broad.mit.edu 37 6 32818803 32818803 + Missense_Mutation SNP C G G TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr6:32818803C>G uc003ocg.2 - 4 1303 c.1148G>C c.(1147-1149)GGA>GCA p.G383A TAP1_uc011dqi.1_Missense_Mutation_p.G122A NM_000593 NP_000584 Q03518 TAP1_HUMAN transporter 1, ATP-binding cassette, sub-family 383 Lumenal (Potential).|ABC transmembrane type-1. antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity cytosol|plasma membrane|TAP complex ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding skin(1) 1 GGACACTGATCCCCAGAGCAT 0.527 6 74 --- --- --- --- PASS HTR1E 3354 broad.mit.edu 37 6 87725275 87725275 + Missense_Mutation SNP G A A TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr6:87725275G>A uc003pli.2 + 2 926 c.223G>A c.(223-225)GTC>ATC p.V75I NM_000865 NP_000856 P28566 5HT1E_HUMAN 5-hydroxytryptamine (serotonin) receptor 1E 75 Helical; Name=2; (By similarity). G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane protein binding|serotonin binding|serotonin receptor activity ovary(2)|skin(1) 3 all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819) BRCA - Breast invasive adenocarcinoma(108;0.055) Eletriptan(DB00216) GGCAGTGCTCGTCATGCCCCT 0.562 24 60 --- --- --- --- PASS PAPOLB 56903 broad.mit.edu 37 7 4900001 4900001 + Missense_Mutation SNP C A A TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr7:4900001C>A uc003snk.2 - 1 1625 c.1441G>T c.(1441-1443)GGT>TGT p.G481C RADIL_uc003sng.1_Intron|RADIL_uc011jwd.1_Intron|RADIL_uc003snj.1_Intron NM_020144 NP_064529 Q9NRJ5 PAPOB_HUMAN poly(A) polymerase beta (testis specific) 480 mRNA processing|RNA polyadenylation|transcription, DNA-dependent nucleus ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding ovary(1) 1 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14) ATTTTCATACCCATCTCAAAC 0.388 5 30 --- --- --- --- PASS PRPS1L1 221823 broad.mit.edu 37 7 18067280 18067280 + Silent SNP C A A TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr7:18067280C>A uc003stz.2 - 1 207 c.126G>T c.(124-126)GTG>GTT p.V42V NM_175886 NP_787082 P21108 PRPS3_HUMAN phosphoribosyl pyrophosphate synthetase 1-like 42 nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity ovary(1) 1 Lung NSC(10;0.0385)|all_lung(11;0.0736) CATCAATTTCCACGCAGGTCT 0.498 7 225 --- --- --- --- PASS DNAH11 8701 broad.mit.edu 37 7 21938980 21938980 + Missense_Mutation SNP G T T rs113653972 TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr7:21938980G>T uc003svc.2 + 81 13128 c.13097G>T c.(13096-13098)CGA>CTA p.R4366L NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 4366 microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 CTGCGATGCCGAGAACTCGAT 0.502 Kartagener_syndrome 5 182 --- --- --- --- PASS FAM188B 84182 broad.mit.edu 37 7 30818085 30818085 + Missense_Mutation SNP G T T TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr7:30818085G>T uc003tbt.2 + 2 178 c.101G>T c.(100-102)CGC>CTC p.R34L FAM188B_uc010kwe.2_Missense_Mutation_p.R5L NM_032222 NP_115598 Q4G0A6 F188B_HUMAN hypothetical protein LOC84182 34 0 GACCAGGAACGCCCACGCTCT 0.423 4 81 --- --- --- --- PASS TXNDC3 51314 broad.mit.edu 37 7 37901736 37901736 + Missense_Mutation SNP C T T TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr7:37901736C>T uc003tfn.2 + 7 749 c.377C>T c.(376-378)GCT>GTT p.A126V NM_016616 NP_057700 Q8N427 TXND3_HUMAN thioredoxin domain containing 3 126 cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process cytoplasm|microtubule cytoskeleton ATP binding|nucleoside diphosphate kinase activity ovary(1)|breast(1)|central_nervous_system(1) 3 GGTGAAATGGCTCGACCTCAG 0.358 Kartagener_syndrome 4 20 --- --- --- --- PASS PCOLCE 5118 broad.mit.edu 37 7 100205276 100205276 + Silent SNP G A A TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr7:100205276G>A uc003uvo.2 + 8 1227 c.1029G>A c.(1027-1029)GTG>GTA p.V343V PCOLCE_uc010lhb.1_RNA|PCOLCE_uc003uvp.1_RNA NM_002593 NP_002584 Q15113 PCOC1_HUMAN procollagen C-endopeptidase enhancer 343 NTR. multicellular organismal development extracellular space collagen binding|heparin binding|peptidase activator activity 0 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) CTGCGACAGTGAAGTCCATGG 0.562 12 83 --- --- --- --- PASS ZAN 7455 broad.mit.edu 37 7 100373092 100373092 + Silent SNP C T T TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr7:100373092C>T uc003uwj.2 + 33 6087 c.5922C>T c.(5920-5922)GCC>GCT p.A1974A ZAN_uc003uwk.2_Silent_p.A1974A|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kke.1_Silent_p.A61A NM_003386 NP_003377 Q9Y493 ZAN_HUMAN zonadhesin isoform 3 1974 Extracellular (Potential).|VWFD 3. 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) AGATCAGTGCCAAGCATGAGA 0.552 7 42 --- --- --- --- PASS MUC17 140453 broad.mit.edu 37 7 100683976 100683976 + Silent SNP C A A TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr7:100683976C>A uc003uxp.1 + 3 9332 c.9279C>A c.(9277-9279)ACC>ACA p.T3093T MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 3093 Extracellular (Potential).|Ser-rich.|50.|59 X approximate tandem repeats. 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) CTGAAGGTACCAGCATGCCAA 0.493 9 364 --- --- --- --- PASS PPP1R3A 5506 broad.mit.edu 37 7 113518998 113518998 + Missense_Mutation SNP C T T TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr7:113518998C>T uc010ljy.1 - 4 2180 c.2149G>A c.(2149-2151)GCT>ACT p.A717T NM_002711 NP_002702 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory (inhibitor) 717 glycogen metabolic process integral to membrane lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1) 34 CCATGATCAGCTAGAGAAGAC 0.408 12 52 --- --- --- --- PASS HYAL4 23553 broad.mit.edu 37 7 123508765 123508765 + Missense_Mutation SNP G T T TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr7:123508765G>T uc003vlc.2 + 3 1076 c.438G>T c.(436-438)TGG>TGT p.W146C HYAL4_uc011knz.1_Missense_Mutation_p.W146C NM_012269 NP_036401 Q2M3T9 HYAL4_HUMAN hyaluronoglucosaminidase 4 146 Extracellular (Potential). fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process integral to membrane hyalurononglucosaminidase activity skin(1) 1 TTATAGATTGGGAATATTGGC 0.393 6 60 --- --- --- --- PASS CNOT4 4850 broad.mit.edu 37 7 135078943 135078943 + Nonsense_Mutation SNP C A A TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr7:135078943C>A uc003vsv.1 - 10 1661 c.1354G>T c.(1354-1356)GGA>TGA p.G452* CNOT4_uc003vss.2_Nonsense_Mutation_p.G449*|CNOT4_uc011kpz.1_Nonsense_Mutation_p.G449*|CNOT4_uc003vst.2_Nonsense_Mutation_p.G452*|CNOT4_uc003vsu.1_Nonsense_Mutation_p.G449*|CNOT4_uc011kpy.1_Nonsense_Mutation_p.G452* NM_001008225 NP_001008226 O95628 CNOT4_HUMAN CCR4-NOT transcription complex, subunit 4 452 nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding 0 TGCAGGAATCCAGAGCCTGGA 0.507 5 49 --- --- --- --- PASS ANGPT2 285 broad.mit.edu 37 8 6371296 6371296 + Missense_Mutation SNP G A A TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr8:6371296G>A uc003wqj.3 - 7 1431 c.1102C>T c.(1102-1104)CGC>TGC p.R368C MCPH1_uc003wqi.2_Intron|ANGPT2_uc003wqk.3_Missense_Mutation_p.R367C|ANGPT2_uc010lri.2_Missense_Mutation_p.R316C|ANGPT2_uc003wql.3_Missense_Mutation_p.R367C NM_001147 NP_001138 O15123 ANGP2_HUMAN angiopoietin 2 isoform a precursor 368 Fibrinogen C-terminal. angiogenesis|blood coagulation|leukocyte migration|negative regulation of blood vessel endothelial cell migration|negative regulation of positive chemotaxis|Tie receptor signaling pathway extracellular space metal ion binding|receptor tyrosine kinase binding upper_aerodigestive_tract(1) 1 Hepatocellular(245;0.0663) Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226) AGCACATAGCGTTGCTGATTA 0.363 7 71 --- --- --- --- PASS PPP1R3B 79660 broad.mit.edu 37 8 8998700 8998700 + Silent SNP G T T TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr8:8998700G>T uc003wsn.3 - 2 627 c.462C>A c.(460-462)CTC>CTA p.L154L PPP1R3B_uc003wso.3_Silent_p.L153L NM_024607 NP_078883 Q86XI6 PPR3B_HUMAN protein phosphatase 1, regulatory (inhibitor) 154 CBM21. glycogen metabolic process ovary(1)|skin(1) 2 COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241) TCTCAAATGCGAGGTTCTGAA 0.488 5 137 --- --- --- --- PASS TOX 9760 broad.mit.edu 37 8 59852027 59852027 + Nonsense_Mutation SNP G T T TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr8:59852027G>T uc003xtw.1 - 3 466 c.245C>A c.(244-246)TCG>TAG p.S82* NM_014729 NP_055544 O94900 TOX_HUMAN thymus high mobility group box protein TOX 82 nucleus DNA binding kidney(2)|lung(1)|skin(1) 4 all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607) GTGCACCAGCGAGTGGTCTGG 0.478 4 36 --- --- --- --- PASS TRPA1 8989 broad.mit.edu 37 8 72958758 72958758 + Missense_Mutation SNP G A A TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr8:72958758G>A uc003xza.2 - 17 2226 c.2051C>T c.(2050-2052)ACA>ATA p.T684I uc011lff.1_Intron|uc003xyy.2_Intron NM_007332 NP_015628 O75762 TRPA1_HUMAN ankyrin-like protein 1 684 Cytoplasmic (Potential). integral to plasma membrane ovary(4)|lung(1)|kidney(1) 6 Epithelial(68;0.223) Menthol(DB00825) GTTGAGGGCTGTAAGCGGTTC 0.239 4 23 --- --- --- --- PASS ZFHX4 79776 broad.mit.edu 37 8 77618422 77618422 + Missense_Mutation SNP G A A TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr8:77618422G>A uc003yav.2 + 2 2486 c.2099G>A c.(2098-2100)CGT>CAT p.R700H ZFHX4_uc003yat.1_Missense_Mutation_p.R700H|ZFHX4_uc003yau.1_Missense_Mutation_p.R700H|ZFHX4_uc003yaw.1_Missense_Mutation_p.R700H NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 700 C2H2-type 3. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) AAACCCTTCCGTTGTGAGGTT 0.502 HNSCC(33;0.089) 7 45 --- --- --- --- PASS SNTB1 6641 broad.mit.edu 37 8 121644768 121644768 + Silent SNP C T T TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr8:121644768C>T uc010mdg.2 - 3 1138 c.912G>A c.(910-912)GTG>GTA p.V304V SNTB1_uc003ype.2_Silent_p.V304V NM_021021 NP_066301 Q13884 SNTB1_HUMAN basic beta 1 syntrophin 304 muscle contraction cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma actin binding|calmodulin binding skin(5) 5 Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997) STAD - Stomach adenocarcinoma(47;0.00503) CCTCAGCAATCACTCGGGTCA 0.527 7 19 --- --- --- --- PASS NDRG1 10397 broad.mit.edu 37 8 134276808 134276808 + Missense_Mutation SNP G T T TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr8:134276808G>T uc003yuh.2 - 4 773 c.187C>A c.(187-189)CAT>AAT p.H63N NDRG1_uc003yug.2_Missense_Mutation_p.H63N|NDRG1_uc010mee.2_Intron|NDRG1_uc010mef.2_5'UTR|NDRG1_uc011ljh.1_5'UTR|NDRG1_uc011lji.1_Intron NM_001135242 NP_001128714 Q92597 NDRG1_HUMAN N-myc downstream regulated 1 63 cellular response to hypoxia|response to metal ion cytoplasm|microtubule cytoskeleton|nucleus|plasma membrane protein binding ovary(4) 4 all_epithelial(106;4.26e-24)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0107) CCGATGTCATGGTAGGTGAGG 0.562 5 75 --- --- --- --- PASS KDM4C 23081 broad.mit.edu 37 9 7174612 7174612 + Silent SNP G T T TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr9:7174612G>T uc003zkh.2 + 22 3634 c.3054G>T c.(3052-3054)GGG>GGT p.G1018G KDM4C_uc011lmk.1_Silent_p.G763G|KDM4C_uc011lml.1_Silent_p.G705G NM_015061 NP_055876 Q9H3R0 KDM4C_HUMAN jumonji domain containing 2C isoform 1 1018 positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent nuclear chromatin androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding ovary(1) 1 TTATCCAAGGGGAGAGAAAGA 0.448 8 180 --- --- --- --- PASS FAM154A 158297 broad.mit.edu 37 9 18928612 18928612 + Missense_Mutation SNP G T T TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr9:18928612G>T uc003zni.1 - 4 1141 c.863C>A c.(862-864)TCC>TAC p.S288Y FAM154A_uc010mip.1_Missense_Mutation_p.S96Y NM_153707 NP_714918 Q8IYX7 F154A_HUMAN hypothetical protein LOC158297 288 pancreas(1) 1 GBM - Glioblastoma multiforme(50;6.53e-16) GGGAGCTTTGGAGAACATCCG 0.542 5 55 --- --- --- --- PASS CDKN2A 1029 broad.mit.edu 37 9 21971029 21971029 + Nonsense_Mutation SNP C T T TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr9:21971029C>T uc003zpk.2 - 2 541 c.329G>A c.(328-330)TGG>TAG p.W110* MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Silent_p.L165L NM_000077 NP_000068 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A isoform 1 110 ANK 4. cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding p.0?(1112)|p.W110*(38)|p.?(13)|p.H83fs*2(2)|p.W110fs*9(1)|p.D105fs*8(1)|p.A68fs*3(1)|p.R107fs*33(1)|p.W110fs*36(1)|p.W110C(1) haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1) 3678 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) CAGACGGCCCCAGGCATCGCG 0.731 17 Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 7 12 --- --- --- --- PASS GNE 10020 broad.mit.edu 37 9 36227385 36227385 + Nonsense_Mutation SNP C A A TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr9:36227385C>A uc010mlh.2 - 7 1356 c.1141G>T c.(1141-1143)GAG>TAG p.E381* CLTA_uc003zzf.1_Intron|GNE_uc010mlg.2_Nonsense_Mutation_p.E381*|GNE_uc011lpl.1_Nonsense_Mutation_p.E271*|GNE_uc010mli.2_Nonsense_Mutation_p.E412*|GNE_uc010mlj.2_Nonsense_Mutation_p.E376* NM_005476 NP_005467 Q9Y223 GLCNE_HUMAN UDP-N-acetylglucosamine-2-epimerase/N- 381 UDP-N-acetylglucosamine 2-epimerase. cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity 0 STAD - Stomach adenocarcinoma(86;0.228) TGCAGTGGCTCTTGAAGATCG 0.358 7 38 --- --- --- --- PASS FLJ46321 389763 broad.mit.edu 37 9 84606846 84606846 + Silent SNP A G G TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr9:84606846A>G uc004amn.2 + 4 1508 c.1461A>G c.(1459-1461)CCA>CCG p.P487P NM_001001670 NP_001001670 Q6ZQQ2 F75D1_HUMAN hypothetical protein LOC389763 487 integral to membrane 0 AGCAGCCTCCACACTCTAAAT 0.453 18 85 --- --- --- --- PASS PPP3R2 5535 broad.mit.edu 37 9 104356757 104356757 + Silent SNP G T T TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr9:104356757G>T uc004bbr.2 - 1 527 c.456C>A c.(454-456)TCC>TCA p.S152S GRIN3A_uc004bbp.1_Intron|GRIN3A_uc004bbq.1_Intron|PPP3R2_uc010mtf.1_RNA NM_147180 NP_671709 Q96LZ3 CANB2_HUMAN protein phosphatase 3 regulatory subunit B, beta 149 EF-hand 4.|4. calcium ion binding ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(62;0.0527) Cyclosporine(DB00091) ATTCCTCAAAGGATATCTTCC 0.502 5 50 --- --- --- --- PASS TNC 3371 broad.mit.edu 37 9 117798447 117798447 + Silent SNP T C C TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr9:117798447T>C uc004bjj.3 - 21 5948 c.5586A>G c.(5584-5586)GAA>GAG p.E1862E TNC_uc010mvf.2_Silent_p.E1589E NM_002160 NP_002151 P24821 TENA_HUMAN tenascin C precursor 1862 Fibronectin type-III 14. cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1) 7 TCAGTGTGTATTCCGTGGCAG 0.507 16 54 --- --- --- --- PASS NUP188 23511 broad.mit.edu 37 9 131760858 131760858 + Silent SNP C A A TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr9:131760858C>A uc004bws.1 + 32 3493 c.3471C>A c.(3469-3471)TCC>TCA p.S1157S NUP188_uc004bwu.2_Silent_p.S500S NM_015354 NP_056169 Q5SRE5 NU188_HUMAN nucleoporin 188kDa 1157 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1) 7 GCCTTGGCTCCATGAAGTGCA 0.572 5 63 --- --- --- --- PASS PPP2R4 5524 broad.mit.edu 37 9 131898812 131898812 + Missense_Mutation SNP G T T TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr9:131898812G>T uc004bxm.1 + 8 995 c.728G>T c.(727-729)GGA>GTA p.G243V PPP2R4_uc004bxl.1_Missense_Mutation_p.G208V|PPP2R4_uc011mbo.1_Missense_Mutation_p.G243V|PPP2R4_uc010myr.1_Intron|PPP2R4_uc004bxn.1_Missense_Mutation_p.G208V|PPP2R4_uc004bxo.1_Missense_Mutation_p.G166V|PPP2R4_uc011mbp.1_Missense_Mutation_p.G179V|PPP2R4_uc011mbq.1_Missense_Mutation_p.G166V|PPP2R4_uc010mys.1_Missense_Mutation_p.G173V|PPP2R4_uc011mbr.1_5'Flank NM_178001 NP_821068 Q15257 PTPA_HUMAN protein phosphatase 2A, regulatory subunit B' 243 ATP catabolic process|negative regulation of phosphoprotein phosphatase activity|negative regulation of protein dephosphorylation|positive regulation of apoptosis|positive regulation of phosphoprotein phosphatase activity|positive regulation of protein dephosphorylation calcium channel complex|cytoplasm|nucleus|protein phosphatase type 2A complex|soluble fraction ATP binding|peptidyl-prolyl cis-trans isomerase activity|protein heterodimerization activity|protein homodimerization activity|protein phosphatase 2A binding|protein phosphatase type 2A regulator activity|protein tyrosine phosphatase activator activity|receptor binding ovary(1)|lung(1)|pancreas(1) 3 Medulloblastoma(224;0.235) UCEC - Uterine corpus endometrioid carcinoma (4;0.0178) GGCAGCCAGGGAGTGTGGGGT 0.562 7 141 --- --- --- --- PASS WAPAL 23063 broad.mit.edu 37 10 88259869 88259869 + Missense_Mutation SNP C A A TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr10:88259869C>A uc001kdo.2 - 3 1573 c.1131G>T c.(1129-1131)ATG>ATT p.M377I WAPAL_uc001kdn.2_Missense_Mutation_p.M420I|WAPAL_uc009xsw.2_Missense_Mutation_p.M377I NM_015045 NP_055860 Q7Z5K2 WAPL_HUMAN wings apart-like homolog 377 Mediates interaction with the cohesin complex. cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin chromatin|cohesin complex|cytoplasm protein binding ovary(1) 1 TGCTGCGTTCCATAGTATCCT 0.438 4 19 --- --- --- --- PASS ANO9 338440 broad.mit.edu 37 11 418531 418531 + Nonsense_Mutation SNP G T T rs144928396 byFrequency TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr11:418531G>T uc001lpi.2 - 23 2274 c.2189C>A c.(2188-2190)TCG>TAG p.S730* SIGIRR_uc001lpf.2_5'Flank|SIGIRR_uc001lpe.1_5'Flank|ANO9_uc001lph.2_Nonsense_Mutation_p.S423*|ANO9_uc010qvv.1_Nonsense_Mutation_p.S586* NM_001012302 NP_001012302 A1A5B4 ANO9_HUMAN tumor protein p53 inducible protein 5 730 Cytoplasmic (Potential). chloride channel complex chloride channel activity central_nervous_system(2)|ovary(1)|skin(1) 4 GTTCTTCACCGACTGAGGGAT 0.637 5 78 --- --- --- --- PASS MUC6 4588 broad.mit.edu 37 11 1015965 1015965 + Missense_Mutation SNP C A A TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr11:1015965C>A uc001lsw.2 - 31 6887 c.6836G>T c.(6835-6837)CGA>CTA p.R2279L NM_005961 NP_005952 Q6W4X9 MUC6_HUMAN mucin 6, gastric 2279 Thr-rich. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent ovary(1) 1 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) TGTGGGAACTCGGGTGGTGAG 0.627 6 94 --- --- --- --- PASS MUC5B 727897 broad.mit.edu 37 11 1256581 1256581 + Missense_Mutation SNP G A A TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr11:1256581G>A uc009ycr.1 + 39 4921 c.4795G>A c.(4795-4797)GAG>AAG p.E1599K MUC5B_uc009yct.1_Missense_Mutation_p.E940K|MUC5B_uc001ltb.2_Missense_Mutation_p.E943K|MUC5B_uc001lta.2_Missense_Mutation_p.E608K NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 940 VWFD 3. cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CATCGTCACCGAGAACATCCC 0.657 5 17 --- --- --- --- PASS NUCB2 4925 broad.mit.edu 37 11 17332440 17332440 + Missense_Mutation SNP G T T TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr11:17332440G>T uc001mmw.2 + 7 797 c.552G>T c.(550-552)AAG>AAT p.K184N NUCB2_uc001mms.1_Missense_Mutation_p.K185N|NUCB2_uc001mmt.1_Missense_Mutation_p.K184N|NUCB2_uc001mmv.1_Missense_Mutation_p.K184N|NUCB2_uc009ygz.2_Missense_Mutation_p.K184N NM_005013 NP_005004 P80303 NUCB2_HUMAN nucleobindin 2 precursor 184 By similarity. cytosol|ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|plasma membrane calcium ion binding|DNA binding 0 AAATGATGAAGGAACATGAAA 0.289 5 57 --- --- --- --- PASS NELL1 4745 broad.mit.edu 37 11 21581914 21581914 + Missense_Mutation SNP G C C TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr11:21581914G>C uc001mqe.2 + 17 2119 c.1966G>C c.(1966-1968)GTC>CTC p.V656L NELL1_uc001mqf.2_Missense_Mutation_p.V609L|NELL1_uc009yid.2_Missense_Mutation_p.V684L|NELL1_uc010rdo.1_Missense_Mutation_p.V599L|NELL1_uc010rdp.1_Missense_Mutation_p.V369L|NELL1_uc001mqh.2_Intron NM_006157 NP_006148 Q92832 NELL1_HUMAN nel-like 1 isoform 1 precursor 656 VWFC 3. cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity ovary(2)|large_intestine(1) 3 CAGGTGTTCTGTCTGCTCCTG 0.542 5 11 --- --- --- --- PASS LRP4 4038 broad.mit.edu 37 11 46896436 46896436 + Missense_Mutation SNP G A A TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr11:46896436G>A uc001ndn.3 - 28 4290 c.4144C>T c.(4144-4146)CCT>TCT p.P1382S NM_002334 NP_002325 O75096 LRP4_HUMAN low density lipoprotein receptor-related protein 1382 Extracellular (Potential). endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane calcium ion binding|receptor activity skin(2)|upper_aerodigestive_tract(1)|ovary(1) 4 Lung(87;0.159) TTGAGCTCAGGAACAGGGACA 0.522 13 60 --- --- --- --- PASS DDB2 1643 broad.mit.edu 37 11 47254483 47254483 + Missense_Mutation SNP G T T TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr11:47254483G>T uc001neb.2 + 4 770 c.575G>T c.(574-576)CGA>CTA p.R192L DDB2_uc001nec.2_RNA|DDB2_uc009yli.1_Missense_Mutation_p.R128L|DDB2_uc001ned.2_Intron|DDB2_uc001nee.2_Intron|DDB2_uc001nef.2_Intron|DDB2_uc001neg.2_Missense_Mutation_p.R56L|DDB2_uc001neh.2_RNA NM_000107 NP_000098 Q92466 DDB2_HUMAN damage-specific DNA binding protein 2 192 WD 2. nucleotide-excision repair, DNA damage removal|protein autoubiquitination|protein polyubiquitination|response to UV nucleoplasm|protein complex damaged DNA binding|protein binding kidney(2)|ovary(1) 3 AACATTCTACGAGTTTTTGCC 0.468 Mis|N skin basal cell|skin squamous cell|melanoma Direct_reversal_of_damage|NER Xeroderma_Pigmentosum 5 140 --- --- --- --- PASS TMEM135 65084 broad.mit.edu 37 11 87016979 87016979 + Missense_Mutation SNP T A A TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr11:87016979T>A uc001pch.2 + 9 723 c.700T>A c.(700-702)TGC>AGC p.C234S TMEM135_uc010rtt.1_Missense_Mutation_p.C95S|TMEM135_uc001pci.2_Missense_Mutation_p.C212S NM_022918 NP_075069 Q86UB9 TM135_HUMAN transmembrane protein 135 234 integral to membrane 0 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) CAATTTCAGATGCAAACATGG 0.284 5 26 --- --- --- --- PASS ATF7IP 55729 broad.mit.edu 37 12 14613749 14613749 + Missense_Mutation SNP G T T TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr12:14613749G>T uc001rbw.2 + 9 2637 c.2479G>T c.(2479-2481)GGT>TGT p.G827C ATF7IP_uc010shs.1_3'UTR|ATF7IP_uc001rbu.2_Missense_Mutation_p.G827C|ATF7IP_uc001rbv.1_Missense_Mutation_p.G826C|ATF7IP_uc001rbx.2_Missense_Mutation_p.G826C|ATF7IP_uc010sht.1_3'UTR|ATF7IP_uc001rby.3_Missense_Mutation_p.G827C|ATF7IP_uc001rca.2_Missense_Mutation_p.G827C NM_018179 NP_060649 Q6VMQ6 MCAF1_HUMAN activating transcription factor 7 interacting 827 DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent protein binding lung(3)|ovary(1)|skin(1) 5 TACAGTGAGTGGTCTTACCAA 0.468 4 27 --- --- --- --- PASS SFRS2IP 9169 broad.mit.edu 37 12 46321720 46321720 + Silent SNP G T T TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr12:46321720G>T uc001rox.2 - 11 2051 c.1764C>A c.(1762-1764)TCC>TCA p.S588S SFRS2IP_uc001row.2_Silent_p.S273S|SFRS2IP_uc001roy.1_Silent_p.S662S NM_004719 NP_004710 Q99590 SCAFB_HUMAN splicing factor, arginine/serine-rich 2, 588 spliceosome assembly nucleus protein binding|zinc ion binding 0 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.209) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.1) TTTCTACTAGGGAACTCTCTG 0.368 5 34 --- --- --- --- PASS KRT73 319101 broad.mit.edu 37 12 53004546 53004546 + Missense_Mutation SNP T G G TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr12:53004546T>G uc001sas.2 - 7 1219 c.1184A>C c.(1183-1185)AAG>ACG p.K395T NM_175068 NP_778238 Q86Y46 K2C73_HUMAN keratin 73 395 Rod.|Coil 2. keratin filament structural molecule activity large_intestine(2)|ovary(2)|skin(2) 6 BRCA - Breast invasive adenocarcinoma(357;0.189) CTCATCCAGCTTGGCCCTGGC 0.642 5 32 --- --- --- --- PASS HCFC2 29915 broad.mit.edu 37 12 104481815 104481815 + Missense_Mutation SNP G C C TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr12:104481815G>C uc001tkj.3 + 9 1386 c.1283G>C c.(1282-1284)AGT>ACT p.S428T HCFC2_uc009zul.2_Intron NM_013320 NP_037452 Q9Y5Z7 HCFC2_HUMAN host cell factor C2 428 Fibronectin type-III 1. regulation of transcription from RNA polymerase II promoter|viral reproduction cytoplasm|nucleus transcription coactivator activity ovary(2)|central_nervous_system(1) 3 GTTCCTAACAGTGTAAGTAAA 0.343 6 14 --- --- --- --- PASS PRKD1 5587 broad.mit.edu 37 14 30135343 30135343 + Missense_Mutation SNP A G G TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr14:30135343A>G uc001wqh.2 - 3 656 c.475T>C c.(475-477)TTC>CTC p.F159L NM_002742 NP_002733 Q15139 KPCD1_HUMAN protein kinase D1 159 Phorbol-ester/DAG-type 1. 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) TGATCACAGAAAGCTGGAGCT 0.418 17 48 --- --- --- --- PASS FMN1 342184 broad.mit.edu 37 15 33256413 33256413 + Missense_Mutation SNP G T T TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr15:33256413G>T uc001zhf.3 - 5 2364 c.2364C>A c.(2362-2364)GAC>GAA p.D788E NM_001103184 NP_001096654 Q68DA7 FMN1_HUMAN formin 1 1011 FH2. actin cytoskeleton organization actin cytoskeleton|adherens junction|cytoplasm|nucleus actin binding ovary(1) 1 all_lung(180;1.14e-07) all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262) GGTCCCGAATGTCAGGTTCTT 0.378 7 60 --- --- --- --- PASS AQR 9716 broad.mit.edu 37 15 35210573 35210573 + Missense_Mutation SNP G T T TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr15:35210573G>T uc001ziv.2 - 15 1409 c.1228C>A c.(1228-1230)CGT>AGT p.R410S NM_014691 NP_055506 O60306 AQR_HUMAN aquarius 410 catalytic step 2 spliceosome RNA binding large_intestine(1) 1 Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08) all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283) CGTTCATGACGAGATACCTAA 0.338 4 37 --- --- --- --- PASS KIF7 374654 broad.mit.edu 37 15 90171694 90171694 + Nonsense_Mutation SNP G A A TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr15:90171694G>A uc002bof.2 - 19 4065 c.3988C>T c.(3988-3990)CGA>TGA p.R1330* KIF7_uc010upw.1_Nonsense_Mutation_p.R816*|C15orf42_uc010upv.1_Intron NM_198525 NP_940927 Q2M1P5 KIF7_HUMAN kinesin family member 7 1330 microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway cilium ATP binding|microtubule motor activity|protein binding ovary(2)|lung(1) 3 Lung NSC(78;0.0237)|all_lung(78;0.0478) BRCA - Breast invasive adenocarcinoma(143;0.128) GGGCTGGCTCGTCGCAGTTCC 0.672 9 35 --- --- --- --- PASS PCSK6 5046 broad.mit.edu 37 15 101933582 101933582 + Silent SNP G A A TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr15:101933582G>A uc002bwy.2 - 9 1358 c.1044C>T c.(1042-1044)GGC>GGT p.G348G PCSK6_uc010bpd.2_Silent_p.G218G|PCSK6_uc010bpe.2_Silent_p.G348G|PCSK6_uc002bxa.2_Silent_p.G348G|PCSK6_uc002bxb.2_Silent_p.G348G|PCSK6_uc002bxc.1_Silent_p.G348G|PCSK6_uc002bxd.1_Silent_p.G348G|PCSK6_uc002bxe.2_Silent_p.G348G|PCSK6_uc002bxg.1_Silent_p.G348G NM_002570 NP_002561 P29122 PCSK6_HUMAN paired basic amino acid cleaving system 4 348 Catalytic. glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity pancreas(2) 2 Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) CCTCTCTCCCGCCATTCCCAG 0.617 8 33 --- --- --- --- PASS BAIAP3 8938 broad.mit.edu 37 16 1388906 1388906 + Missense_Mutation SNP A C C TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr16:1388906A>C uc002clk.1 + 3 240 c.240A>C c.(238-240)AAA>AAC p.K80N BAIAP3_uc002clj.2_Missense_Mutation_p.K45N|BAIAP3_uc010uuz.1_Missense_Mutation_p.K45N|BAIAP3_uc010uva.1_Missense_Mutation_p.K45N|BAIAP3_uc010uvb.1_Missense_Mutation_p.K80N|BAIAP3_uc010uvc.1_Missense_Mutation_p.K45N NM_003933 NP_003924 O94812 BAIP3_HUMAN BAI1-associated protein 3 80 G-protein coupled receptor protein signaling pathway|neurotransmitter secretion protein C-terminus binding pancreas(1) 1 Hepatocellular(780;0.0893) TCTCCAGGAAACCCGGGGATG 0.642 8 89 --- --- --- --- PASS CREBBP 1387 broad.mit.edu 37 16 3789636 3789636 + Missense_Mutation SNP C T T TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr16:3789636C>T uc002cvv.2 - 25 4427 c.4223G>A c.(4222-4224)TGC>TAC p.C1408Y CREBBP_uc002cvw.2_Missense_Mutation_p.C1370Y NM_004380 NP_004371 Q92793 CBP_HUMAN CREB binding protein isoform a 1408 Cys/His-rich. cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding p.C1408Y(1) haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1) 127 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) TCCAAAAAAGCAGACATCCAC 0.478 T|N|F|Mis|O MLL|MORF|RUNXBP2 ALL|AML|DLBCL|B-NHL Rubinstein-Taybi syndrome Rubinstein-Taybi_syndrome 6 55 --- --- --- --- PASS A2BP1 54715 broad.mit.edu 37 16 7629902 7629902 + Missense_Mutation SNP G A A TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr16:7629902G>A uc002cys.2 + 6 1382 c.394G>A c.(394-396)GAC>AAC p.D132N A2BP1_uc010buf.1_Missense_Mutation_p.D132N|A2BP1_uc002cyr.1_Missense_Mutation_p.D131N|A2BP1_uc002cyt.2_Missense_Mutation_p.D132N|A2BP1_uc010uxz.1_Missense_Mutation_p.D175N|A2BP1_uc010uya.1_Intron|A2BP1_uc002cyv.1_Missense_Mutation_p.D132N|A2BP1_uc010uyb.1_Missense_Mutation_p.D132N|A2BP1_uc002cyw.2_Missense_Mutation_p.D152N|A2BP1_uc002cyy.2_Missense_Mutation_p.D152N|A2BP1_uc002cyx.2_Missense_Mutation_p.D152N|A2BP1_uc010uyc.1_Missense_Mutation_p.D152N NM_018723 NP_061193 Q9NWB1 RFOX1_HUMAN ataxin 2-binding protein 1 isoform 4 132 RRM. mRNA processing|RNA splicing|RNA transport nucleus|trans-Golgi network nucleotide binding|protein C-terminus binding|RNA binding 0 all_cancers(2;4.54e-52)|Colorectal(2;6.95e-44)|all_epithelial(2;1.15e-37)|Lung NSC(2;0.000289)|all_lung(2;0.00148)|Myeloproliferative disorder(2;0.0122)|Medulloblastoma(2;0.0354)|all_neural(2;0.0381)|all_hematologic(2;0.0749)|Renal(2;0.0758)|Melanoma(2;0.211) Colorectal(1;3.55e-51)|COAD - Colon adenocarcinoma(2;1.92e-46)|all cancers(1;5.36e-16)|Epithelial(1;3.98e-15)|READ - Rectum adenocarcinoma(2;3.71e-05)|GBM - Glioblastoma multiforme(1;0.0499) CCGGGATCCGGACCTCAGACA 0.532 7 36 --- --- --- --- PASS MYH11 4629 broad.mit.edu 37 16 15865568 15865568 + Silent SNP A G G TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr16:15865568A>G uc002ddy.2 - 9 998 c.891T>C c.(889-891)AGT>AGC p.S297S MYH11_uc002ddv.2_Silent_p.S304S|MYH11_uc002ddw.2_Silent_p.S297S|MYH11_uc002ddx.2_Silent_p.S304S|MYH11_uc010bvg.2_Silent_p.S129S|MYH11_uc002dea.1_Silent_p.S3S NM_002474 NP_002465 P35749 MYH11_HUMAN smooth muscle myosin heavy chain 11 isoform 297 Myosin head-like. axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1) 15 AAAGCAAGTCACCTAGAAGGA 0.488 T CBFB AML 11 56 --- --- --- --- PASS ZKSCAN2 342357 broad.mit.edu 37 16 25264319 25264319 + Missense_Mutation SNP C A A TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr16:25264319C>A uc002dod.3 - 3 1033 c.626G>T c.(625-627)TGG>TTG p.W209L ZKSCAN2_uc010vcl.1_Missense_Mutation_p.M1I|ZKSCAN2_uc002doe.2_Missense_Mutation_p.W209L NM_001012981 NP_001012999 Q63HK3 ZKSC2_HUMAN zinc finger with KRAB and SCAN domains 2 209 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3)|breast(1) 4 GBM - Glioblastoma multiforme(48;0.0378) TAGGGTATTCCATTCATCAGC 0.398 9 195 --- --- --- --- PASS NETO2 81831 broad.mit.edu 37 16 47162370 47162370 + Missense_Mutation SNP G T T TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr16:47162370G>T uc002eer.1 - 4 732 c.347C>A c.(346-348)CCT>CAT p.P116H NETO2_uc010vgf.1_5'UTR|NETO2_uc002ees.1_Missense_Mutation_p.P116H NM_018092 NP_060562 Q8NC67 NETO2_HUMAN neuropilin- and tolloid-like protein 2 116 Extracellular (Potential).|CUB 1. integral to membrane receptor activity 0 all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174) ATCTATAAGAGGAGAGAAACC 0.388 HNSCC(25;0.065) 6 102 --- --- --- --- PASS FTO 79068 broad.mit.edu 37 16 53922817 53922817 + Missense_Mutation SNP A T T TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr16:53922817A>T uc002ehr.2 + 7 1415 c.1193A>T c.(1192-1194)CAA>CTA p.Q398L FTO_uc010vha.1_Missense_Mutation_p.Q102L|FTO_uc010cbz.2_5'UTR NM_001080432 NP_001073901 Q9C0B1 FTO_HUMAN fat mass and obesity associated 398 DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation|oxidative single-stranded RNA demethylation|RNA repair nucleus DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidative DNA demethylase activity|oxidative RNA demethylase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen 0 TGGTGGTGTCAACCCATGGCT 0.498 8 57 --- --- --- --- PASS GPR56 9289 broad.mit.edu 37 16 57689812 57689812 + Missense_Mutation SNP G T T TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr16:57689812G>T uc002emb.2 + 8 1217 c.925G>T c.(925-927)GGT>TGT p.G309C GPR56_uc002elz.1_Missense_Mutation_p.G139C|GPR56_uc002ema.1_Missense_Mutation_p.G134C|GPR56_uc002emc.2_Missense_Mutation_p.G309C|GPR56_uc002emf.2_Missense_Mutation_p.G309C|GPR56_uc010vhs.1_Missense_Mutation_p.G309C|GPR56_uc002emd.2_Missense_Mutation_p.G309C|GPR56_uc002eme.2_Missense_Mutation_p.G309C|GPR56_uc010vht.1_Missense_Mutation_p.G314C|GPR56_uc002emg.3_Missense_Mutation_p.G309C|GPR56_uc010vhu.1_Missense_Mutation_p.G134C NM_005682 NP_005673 Q9Y653 GPR56_HUMAN G protein-coupled receptor 56 isoform a 309 Extracellular (Potential). brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway integral to plasma membrane G-protein coupled receptor activity 0 CCAAGTCCTGGGTGAGAAGGT 0.557 7 127 --- --- --- --- PASS NFATC3 4775 broad.mit.edu 37 16 68156951 68156951 + Missense_Mutation SNP G T T TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr16:68156951G>T uc002evo.1 + 2 1375 c.1165G>T c.(1165-1167)GGT>TGT p.G389C NFATC3_uc010vkl.1_5'UTR|NFATC3_uc010vkm.1_5'UTR|NFATC3_uc010vkn.1_5'UTR|NFATC3_uc010vko.1_5'UTR|NFATC3_uc010vkp.1_5'UTR|NFATC3_uc010vkq.1_5'UTR|NFATC3_uc002evl.2_Intron|NFATC3_uc002evk.2_Missense_Mutation_p.G389C|NFATC3_uc002evm.1_Missense_Mutation_p.G389C|NFATC3_uc002evn.1_Missense_Mutation_p.G389C|NFATC3_uc010vkr.1_5'UTR|NFATC3_uc010vks.1_5'UTR|NFATC3_uc010vkt.1_5'UTR|NFATC3_uc010vku.1_5'UTR|NFATC3_uc010vkv.1_5'UTR|NFATC3_uc010vkw.1_5'UTR|NFATC3_uc010vkx.1_5'UTR|NFATC3_uc010vky.1_5'UTR|NFATC3_uc010vkz.1_5'UTR|NFATC3_uc010vla.1_5'UTR|NFATC3_uc010vlb.1_5'UTR|NFATC3_uc010vlc.1_5'UTR NM_173165 NP_775188 Q12968 NFAC3_HUMAN nuclear factor of activated T-cells, 389 inflammatory response|transcription from RNA polymerase II promoter nucleolus|plasma membrane DNA binding upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 3 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24) AGATTCATGTGGTGATCAGTT 0.468 6 93 --- --- --- --- PASS SMG6 23293 broad.mit.edu 37 17 2202732 2202732 + Missense_Mutation SNP C A A TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr17:2202732C>A uc002fub.1 - 2 1370 c.1315G>T c.(1315-1317)GGT>TGT p.G439C SMG6_uc002fud.1_Missense_Mutation_p.G408C NM_017575 NP_060045 Q86US8 EST1A_HUMAN Smg-6 homolog, nonsense mediated mRNA decay 439 Interaction with telomeric DNA. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding central_nervous_system(2)|lung(1)|kidney(1) 4 CCCTTACTACCAGATCCAAAC 0.542 6 115 --- --- --- --- PASS OR1A1 8383 broad.mit.edu 37 17 3118956 3118956 + Silent SNP C A A TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr17:3118956C>A uc010vrc.1 + 1 42 c.42C>A c.(40-42)CTC>CTA p.L14L NM_014565 NP_055380 Q9P1Q5 OR1A1_HUMAN olfactory receptor, family 1, subfamily A, 14 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 AATTCATCCTCCTGGGAGTTA 0.418 5 34 --- --- --- --- PASS DLG4 1742 broad.mit.edu 37 17 7094078 7094078 + Silent SNP G A A TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr17:7094078G>A uc002get.3 - 22 3454 c.2253C>T c.(2251-2253)ATC>ATT p.I751I DLG4_uc010vtm.1_RNA|DLG4_uc010vtn.1_Silent_p.I648I|DLG4_uc010cly.2_Silent_p.I705I|DLG4_uc010vto.1_Silent_p.I748I NM_001365 NP_001356 P78352 DLG4_HUMAN post-synaptic density protein 95 isoform 1 708 Guanylate kinase-like. axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome protein binding|protein C-terminus binding ovary(1)|breast(1) 2 AGAGGTCCTCGATGACACGCT 0.622 13 69 --- --- --- --- PASS DNAH2 146754 broad.mit.edu 37 17 7696493 7696493 + Missense_Mutation SNP C A A TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr17:7696493C>A uc002giu.1 + 47 7553 c.7539C>A c.(7537-7539)GAC>GAA p.D2513E NM_020877 NP_065928 Q9P225 DYH2_HUMAN dynein heavy chain domain 3 2513 AAA 3 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(6)|skin(6)|central_nervous_system(1) 13 all_cancers(10;4.66e-07)|Prostate(122;0.081) TCTGGTATGACCGTACGAAGC 0.532 4 39 --- --- --- --- PASS SLFN11 91607 broad.mit.edu 37 17 33690294 33690294 + Missense_Mutation SNP G C C TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr17:33690294G>C uc010ctp.2 - 4 975 c.533C>G c.(532-534)CCT>CGT p.P178R SLFN11_uc010ctq.2_Missense_Mutation_p.P178R|SLFN11_uc002hjh.3_Missense_Mutation_p.P178R|SLFN11_uc002hjg.3_Missense_Mutation_p.P178R|SLFN11_uc010ctr.2_Missense_Mutation_p.P178R NM_001104588 NP_001098058 Q7Z7L1 SLN11_HUMAN schlafen family member 11 178 nucleus ATP binding large_intestine(1)|ovary(1)|skin(1) 3 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) ATCCGAGTTAGGGAGCTCTTG 0.433 7 98 --- --- --- --- PASS CWC25 54883 broad.mit.edu 37 17 36958422 36958422 + Nonsense_Mutation SNP C A A TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr17:36958422C>A uc002hqu.2 - 10 1354 c.1201G>T c.(1201-1203)GAG>TAG p.E401* CWC25_uc010wdv.1_Nonsense_Mutation_p.E338*|PIP4K2B_uc002hqs.2_5'Flank|PIP4K2B_uc010wdt.1_5'Flank NM_017748 NP_060218 Q9NXE8 CWC25_HUMAN coiled-coil domain containing 49 401 0 ACCCGATCCTCCAGGGAGGAA 0.438 5 47 --- --- --- --- PASS KRT39 390792 broad.mit.edu 37 17 39122796 39122796 + Nonsense_Mutation SNP C A A TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr17:39122796C>A uc002hvo.1 - 1 349 c.313G>T c.(313-315)GAG>TAG p.E105* KRT39_uc010wfm.1_5'UTR NM_213656 NP_998821 Q6A163 K1C39_HUMAN type I hair keratin KA35 105 Coil 1A.|Rod. intermediate filament structural molecule activity 0 Breast(137;0.00043)|Ovarian(249;0.15) GCAAGGCGCTCGTTCAAGATT 0.448 5 159 --- --- --- --- PASS EFTUD2 9343 broad.mit.edu 37 17 42937901 42937901 + Nonsense_Mutation SNP C A A TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr17:42937901C>A uc002ihn.2 - 17 1879 c.1618G>T c.(1618-1620)GAG>TAG p.E540* EFTUD2_uc010wje.1_Nonsense_Mutation_p.E505*|EFTUD2_uc010wjf.1_Nonsense_Mutation_p.E530* NM_004247 NP_004238 Q15029 U5S1_HUMAN elongation factor Tu GTP binding domain 540 Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck GTP binding|GTPase activity|protein binding ovary(1) 1 Prostate(33;0.109) CGGTTCACCTCGATGTGGTAC 0.393 4 57 --- --- --- --- PASS MYST2 11143 broad.mit.edu 37 17 47886480 47886480 + Splice_Site SNP G T T TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr17:47886480G>T uc002ipm.2 + 6 790 c.664_splice c.e6-1 p.V222_splice MYST2_uc002ipl.1_Intron|MYST2_uc010wma.1_Splice_Site_p.V83_splice|MYST2_uc010wmb.1_Intron|MYST2_uc010wmc.1_Intron|MYST2_uc010wmd.1_Splice_Site_p.V66_splice|MYST2_uc010wme.1_Intron NM_007067 NP_008998 O95251 MYST2_HUMAN MYST histone acetyltransferase 2 DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|lung(1)|skin(1) 3 GATGGTTGCAGGTGAGAGCAC 0.388 5 47 --- --- --- --- PASS CA10 56934 broad.mit.edu 37 17 50008434 50008434 + Silent SNP C T T TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr17:50008434C>T uc002itw.3 - 3 1181 c.195G>A c.(193-195)CGG>CGA p.R65R CA10_uc002itv.3_Silent_p.R71R|CA10_uc002itx.3_Silent_p.R65R|CA10_uc002ity.3_Silent_p.R65R|CA10_uc002itz.2_Silent_p.R65R NM_020178 NP_064563 Q9NS85 CAH10_HUMAN carbonic anhydrase X 65 brain development ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(22;4.74e-06) CTGGCGACTGCCGTTTCCCCA 0.478 7 83 --- --- --- --- PASS TOM1L1 10040 broad.mit.edu 37 17 52993166 52993166 + Silent SNP C T T rs141567240 TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr17:52993166C>T uc002iud.2 + 7 838 c.663C>T c.(661-663)GCC>GCT p.A221A TOM1L1_uc002iub.2_Silent_p.A186A|TOM1L1_uc002iuc.2_Silent_p.A221A|TOM1L1_uc010dca.1_Silent_p.A221A|TOM1L1_uc010wnb.1_Silent_p.A214A|TOM1L1_uc010wnc.1_Silent_p.A144A|TOM1L1_uc010dbz.2_Silent_p.A144A|TOM1L1_uc010wnd.1_Silent_p.A109A|TOM1L1_uc010dcb.1_RNA NM_005486 NP_005477 O75674 TM1L1_HUMAN target of myb1-like 1 221 GAT. intracellular protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway cytosol|endosome membrane|Golgi stack|lysosome SH3 domain binding|ubiquitin binding ovary(1) 1 TGATGTCCGCCATATTGATGG 0.433 4 31 --- --- --- --- PASS SSTR2 6752 broad.mit.edu 37 17 71166359 71166359 + Missense_Mutation SNP A T T TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr17:71166359A>T uc002jje.2 + 2 1261 c.901A>T c.(901-903)ACC>TCC p.T301S NM_001050 NP_001041 P30874 SSR2_HUMAN somatostatin receptor 2 301 Helical; Name=7; (Potential). digestion|negative regulation of cell proliferation|response to nutrient integral to plasma membrane PDZ domain binding|somatostatin receptor activity 0 LUSC - Lung squamous cell carcinoma(166;0.197) GGTGGTCCTCACCTATGCTAA 0.507 26 77 --- --- --- --- PASS SEC14L1 6397 broad.mit.edu 37 17 75208270 75208270 + Missense_Mutation SNP G A A TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr17:75208270G>A uc002jto.2 + 15 2117 c.1850G>A c.(1849-1851)GGA>GAA p.G617E SEC14L1_uc010dhc.2_Missense_Mutation_p.G617E|SEC14L1_uc010wth.1_Missense_Mutation_p.G617E|SEC14L1_uc002jtm.2_Missense_Mutation_p.G617E|SEC14L1_uc010wti.1_Missense_Mutation_p.G583E|SEC14L1_uc010wtj.1_Silent_p.R105R|SEC14L1_uc002jtr.2_Missense_Mutation_p.G11E NM_003003 NP_002994 Q92503 S14L1_HUMAN SEC14 (S. cerevisiae)-like 1 isoform a 617 GOLD. transport Golgi apparatus|integral to membrane binding ovary(2) 2 TGCAAAGAAGGAGAAAGCGTG 0.537 39 170 --- --- --- --- PASS CCDC40 55036 broad.mit.edu 37 17 78039299 78039299 + Missense_Mutation SNP G A A TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr17:78039299G>A uc010dht.2 + 10 1483 c.1456G>A c.(1456-1458)GAC>AAC p.D486N CCDC40_uc010wub.1_Intron|CCDC40_uc002jxm.3_Missense_Mutation_p.D269N NM_017950 NP_060420 Q4G0X9 CCD40_HUMAN coiled-coil domain containing 40 486 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium|cytoplasm ovary(3) 3 all_neural(118;0.167) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149) CACCGAGATCGACGCCATCAG 0.627 18 67 --- --- --- --- PASS ASXL3 80816 broad.mit.edu 37 18 31324284 31324284 + Missense_Mutation SNP T C C TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr18:31324284T>C uc010dmg.1 + 12 4527 c.4472T>C c.(4471-4473)GTT>GCT p.V1491A ASXL3_uc002kxq.2_Missense_Mutation_p.V1198A NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 1491 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding ovary(2)|pancreas(1) 3 ACTGTCTCCGTTGAAAGCTCA 0.562 OREG0024911 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 34 --- --- --- --- PASS MYO5B 4645 broad.mit.edu 37 18 47500812 47500812 + Silent SNP G T T TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr18:47500812G>T uc002leb.2 - 10 1518 c.1230C>A c.(1228-1230)GCC>GCA p.A410A MYO5B_uc002lec.1_Silent_p.A409A NM_001080467 NP_001073936 Q9ULV0 MYO5B_HUMAN myosin VB 410 Myosin head-like. protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity ovary(2)|skin(2)|central_nervous_system(1) 5 READ - Rectum adenocarcinoma(32;0.103) CGAACAACTGGGCATAGATGT 0.582 6 86 --- --- --- --- PASS ANKRD24 170961 broad.mit.edu 37 19 4217104 4217104 + Silent SNP A G G TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr19:4217104A>G uc010dtt.1 + 18 2223 c.1947A>G c.(1945-1947)GAA>GAG p.E649E ANKRD24_uc002lzs.2_Silent_p.E620E|ANKRD24_uc002lzt.2_Silent_p.E621E NM_133475 NP_597732 Q8TF21 ANR24_HUMAN ankyrin repeat domain 24 649 0 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181) AAGCAGAGGAAGCAGAAATGC 0.597 5 79 --- --- --- --- PASS SH3GL1 6455 broad.mit.edu 37 19 4366964 4366964 + Nonsense_Mutation SNP C A A TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr19:4366964C>A uc002maj.2 - 2 179 c.73G>T c.(73-75)GAG>TAG p.E25* SH3GL1_uc002mak.2_Nonsense_Mutation_p.E25*|SH3GL1_uc010xig.1_Nonsense_Mutation_p.E25* NM_003025 NP_003016 Q99961 SH3G1_HUMAN SH3-domain GRB2-like 1 25 BAR. central nervous system development|endocytosis|signal transduction early endosome membrane lipid binding|protein binding ovary(2) 2 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182) TTGGTCCCCTCGGCCCCTCCG 0.602 T MLL AL 7 541 --- --- --- --- PASS SEMA6B 10501 broad.mit.edu 37 19 4548318 4548318 + Missense_Mutation SNP G T T TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr19:4548318G>T uc010duc.1 - 12 1449 c.1411C>A c.(1411-1413)CTC>ATC p.L471I SEMA6B_uc010dud.2_Missense_Mutation_p.L471I|SEMA6B_uc010xih.1_Missense_Mutation_p.L471I NM_032108 NP_115484 Q9H3T3 SEM6B_HUMAN semaphorin 6B precursor 471 Extracellular (Potential).|Sema. cell differentiation|nervous system development integral to membrane receptor activity skin(1) 1 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18) AAGACACTGAGCCCAGACGTC 0.632 5 84 --- --- --- --- PASS SAFB 6294 broad.mit.edu 37 19 5641789 5641789 + Silent SNP C T T TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr19:5641789C>T uc002mcf.2 + 4 431 c.378C>T c.(376-378)ATC>ATT p.I126I SAFB_uc010xiq.1_Silent_p.I126I|SAFB_uc002mcg.2_Silent_p.I126I|SAFB_uc002mce.3_Silent_p.I126I|SAFB_uc010xir.1_Silent_p.I126I|SAFB_uc010xis.1_Intron|SAFB_uc010xit.1_Intron|SAFB_uc010xiu.1_Intron NM_002967 NP_002958 Q15424 SAFB1_HUMAN scaffold attachment factor B 126 chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus double-stranded DNA binding|nucleotide binding|protein binding|RNA binding ovary(1)|liver(1)|skin(1) 3 UCEC - Uterine corpus endometrioid carcinoma (162;0.000222) TGCAGGACATCGACATCATGG 0.498 13 107 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9056521 9056521 + Nonsense_Mutation SNP C A A TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr19:9056521C>A uc002mkp.2 - 3 31129 c.30925G>T c.(30925-30927)GAG>TAG p.E10309* NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 10311 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GGGCCTGACTCTGTCCTAGAG 0.527 7 114 --- --- --- --- PASS CDC37 11140 broad.mit.edu 37 19 10506132 10506132 + Nonsense_Mutation SNP C A A TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr19:10506132C>A uc002mof.1 - 3 582 c.466G>T c.(466-468)GAG>TAG p.E156* CDC37_uc002moe.1_Nonsense_Mutation_p.E111*|CDC37_uc010dxf.1_5'UTR|CDC37_uc002mog.1_Nonsense_Mutation_p.E156*|CDC37_uc002moh.2_Nonsense_Mutation_p.E156* NM_007065 NP_008996 Q16543 CDC37_HUMAN cell division cycle 37 protein 156 protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway unfolded protein binding 0 OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06) GBM - Glioblastoma multiforme(1328;0.0318) ATCTGTTTCTCGTATTTTTCC 0.567 9 431 --- --- --- --- PASS KEAP1 9817 broad.mit.edu 37 19 10610247 10610247 + Missense_Mutation SNP C A A TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr19:10610247C>A uc002moq.1 - 2 619 c.463G>T c.(463-465)GTC>TTC p.V155F KEAP1_uc002mor.1_Missense_Mutation_p.V155F NM_012289 NP_036421 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 155 regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding lung(12)|breast(3)|ovary(1)|pancreas(1) 17 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) CCGTTCATGACGTGGAGGACA 0.587 25 49 --- --- --- --- PASS SIN3B 23309 broad.mit.edu 37 19 16962230 16962230 + Missense_Mutation SNP G C C TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr19:16962230G>C uc002ney.1 + 6 748 c.734G>C c.(733-735)GGA>GCA p.G245A SIN3B_uc002new.2_Missense_Mutation_p.G245A|SIN3B_uc002nex.2_Missense_Mutation_p.G177A|SIN3B_uc002nez.1_Missense_Mutation_p.G245A NM_015260 NP_056075 O75182 SIN3B_HUMAN SIN3 homolog B, transcription regulator 245 cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm protein binding ovary(2) 2 TAGTTCACAGGAAACGGGCCG 0.647 12 49 --- --- --- --- PASS ZNF493 284443 broad.mit.edu 37 19 21605993 21605993 + Nonsense_Mutation SNP G T T TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr19:21605993G>T uc002npx.2 + 2 428 c.148G>T c.(148-150)GGA>TGA p.G50* ZNF493_uc002npw.2_Nonsense_Mutation_p.G178*|ZNF493_uc002npy.2_Nonsense_Mutation_p.G50* NM_175910 NP_787106 Q6ZR52 ZN493_HUMAN zinc finger protein 493 isoform 1 50 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 AAAACATACTGGAAAGAAACC 0.289 14 24 --- --- --- --- PASS ZNF260 339324 broad.mit.edu 37 19 37005242 37005242 + Missense_Mutation SNP C A A TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr19:37005242C>A uc002oee.1 - 4 1743 c.899G>T c.(898-900)GGA>GTA p.G300V ZNF260_uc002oed.1_Missense_Mutation_p.G297V|ZNF260_uc010eey.1_Missense_Mutation_p.G297V|ZNF260_uc002oef.1_Missense_Mutation_p.G297V NM_001012756 NP_001012774 Q3ZCT1 ZN260_HUMAN zinc finger protein 260 300 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Esophageal squamous(110;0.162) GGGTTTCTCTCCTGTATGAAT 0.353 4 26 --- --- --- --- PASS RYR1 6261 broad.mit.edu 37 19 39002950 39002950 + Nonsense_Mutation SNP C A A rs148412985 TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr19:39002950C>A uc002oit.2 + 63 9429 c.9299C>A c.(9298-9300)TCG>TAG p.S3100* RYR1_uc002oiu.2_Nonsense_Mutation_p.S3100*|RYR1_uc002oiv.1_Nonsense_Mutation_p.S20*|RYR1_uc010xuf.1_Nonsense_Mutation_p.S20* NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 3100 Cytoplasmic. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1) 12 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) GAGAGTGCCTCGGAGGACATC 0.607 4 45 --- --- --- --- PASS ZFP36 7538 broad.mit.edu 37 19 39898388 39898388 + Silent SNP C A A TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr19:39898388C>A uc002olh.1 + 2 88 c.30C>A c.(28-30)CTC>CTA p.L10L ZFP36_uc010egn.1_5'UTR NM_003407 NP_003398 P26651 TTP_HUMAN zinc finger protein 36, C3H type, homolog 10 positive regulation of nuclear-transcribed mRNA poly(A) tail shortening cytosol|nucleus AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding pancreas(1) 1 all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512) Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657) CGCAGAGCCTCCTGTCGCTGA 0.667 8 159 --- --- --- --- PASS PLD3 23646 broad.mit.edu 37 19 40872569 40872569 + Missense_Mutation SNP A T T TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr19:40872569A>T uc002onm.3 + 4 478 c.80A>T c.(79-81)GAG>GTG p.E27V PLD3_uc002onj.3_Missense_Mutation_p.E27V|PLD3_uc002onk.3_Missense_Mutation_p.E27V|PLD3_uc002onl.3_Missense_Mutation_p.E27V|PLD3_uc002onn.2_Missense_Mutation_p.E27V|PLD3_uc002ono.2_Missense_Mutation_p.E27V NM_001031696 NP_001026866 Q8IV08 PLD3_HUMAN phospholipase D3 27 Cytoplasmic (Potential). lipid catabolic process endoplasmic reticulum membrane|integral to membrane NAPE-specific phospholipase D activity|phospholipase D activity|protein binding skin(2)|ovary(1) 3 Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248) AATGAGATTGAGGCGTGGAAG 0.647 10 42 --- --- --- --- PASS CYP2A6 1548 broad.mit.edu 37 19 41351983 41351983 + Missense_Mutation SNP G A A TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr19:41351983G>A uc002opl.3 - 6 872 c.851C>T c.(850-852)ACG>ATG p.T284M CYP2A6_uc010ehe.1_Missense_Mutation_p.T80M|CYP2A6_uc010ehf.1_RNA NM_000762 NP_000753 P11509 CP2A6_HUMAN cytochrome P450, family 2, subfamily A, 284 coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752) GTAGAACTCCGTGTTGGGGTT 0.562 10 51 --- --- --- --- PASS TMEM91 641649 broad.mit.edu 37 19 41888702 41888702 + Nonsense_Mutation SNP C A A rs140231326 by1000genomes TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr19:41888702C>A uc002oqk.3 + 3 587 c.236C>A c.(235-237)TCG>TAG p.S79* CYP2F1_uc010xvw.1_Intron|TMEM91_uc002oqi.2_Nonsense_Mutation_p.S79*|TMEM91_uc010ehq.2_Nonsense_Mutation_p.S79*|TMEM91_uc002oql.2_Nonsense_Mutation_p.S79*|TMEM91_uc010ehr.2_Nonsense_Mutation_p.S79*|TMEM91_uc010ehs.2_Nonsense_Mutation_p.S79*|TMEM91_uc010eht.2_Nonsense_Mutation_p.S79*|BCKDHA_uc002oqm.3_Intron|TMEM91_uc002oqn.2_Nonsense_Mutation_p.S79* NM_001098821 NP_001092291 Q6ZNR0 TMM91_HUMAN transmembrane protein 91 isoform a 79 response to biotic stimulus integral to membrane 0 GACAGTGACTCGGACTGGGAT 0.572 9 321 --- --- --- --- PASS B3GNT8 374907 broad.mit.edu 37 19 41932031 41932031 + Missense_Mutation SNP G C C TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr19:41932031G>C uc002oqs.2 - 3 1107 c.653C>G c.(652-654)CCA>CGA p.P218R CYP2F1_uc010xvw.1_Intron|B3GNT8_uc002oqt.1_Intron NM_198540 NP_940942 Q7Z7M8 B3GN8_HUMAN UDP-GlcNAc:betaGal 218 Lumenal (Potential). poly-N-acetyllactosamine biosynthetic process|protein glycosylation Golgi membrane|integral to membrane galactosyltransferase activity|protein N-acetylglucosaminyltransferase activity 0 CTGGTTGAATGGGACGTCGAG 0.627 4 27 --- --- --- --- PASS PSG2 5670 broad.mit.edu 37 19 43575959 43575959 + Missense_Mutation SNP A T T TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr19:43575959A>T uc002ovr.2 - 4 950 c.857T>A c.(856-858)CTG>CAG p.L286Q PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG2_uc002ovq.3_Missense_Mutation_p.L286Q|PSG2_uc010eiq.1_Missense_Mutation_p.L286Q|PSG2_uc002ovs.3_Missense_Mutation_p.L286Q|PSG2_uc002ovt.3_Missense_Mutation_p.L286Q NM_031246 NP_112536 P11465 PSG2_HUMAN pregnancy specific beta-1-glycoprotein 2 286 Ig-like C2-type 2. cell migration|female pregnancy extracellular region 0 Prostate(69;0.00682) GGGGATAAACAGATTTTGTCC 0.453 19 228 --- --- --- --- PASS ZNF225 7768 broad.mit.edu 37 19 44622462 44622462 + Nonsense_Mutation SNP C A A TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr19:44622462C>A uc002oyj.1 + 3 380 c.137C>A c.(136-138)TCA>TAA p.S46* ZNF225_uc010eje.1_5'UTR|ZNF225_uc010ejf.1_Nonsense_Mutation_p.S46* NM_013362 NP_037494 Q9UK10 ZN225_HUMAN zinc finger protein 225 46 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.0352)|all_neural(266;0.202) AACCTGCTCTCAGTGGGTGAG 0.517 7 156 --- --- --- --- PASS IGFL3 388555 broad.mit.edu 37 19 46627192 46627192 + Missense_Mutation SNP C A A TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr19:46627192C>A uc002pea.1 - 3 326 c.301G>T c.(301-303)GGT>TGT p.G101C NM_207393 NP_997276 Q6UXB1 IGFL3_HUMAN IGF-like family member 3 precursor 101 extracellular region protein binding 0 Ovarian(192;0.0175)|all_neural(266;0.0476) OV - Ovarian serous cystadenocarcinoma(262;0.00473)|GBM - Glioblastoma multiforme(486;0.0149)|Epithelial(262;0.239) GACTTCATACCCAGAACCCTC 0.542 7 194 --- --- --- --- PASS VSTM1 284415 broad.mit.edu 37 19 54545432 54545432 + Missense_Mutation SNP G T T TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr19:54545432G>T uc002qcw.3 - 6 682 c.506C>A c.(505-507)TCC>TAC p.S169Y VSTM1_uc010erb.2_Intron|VSTM1_uc002qcx.3_Missense_Mutation_p.S138Y NM_198481 NP_940883 Q6UX27 VSTM1_HUMAN V-set and transmembrane domain containing 1 169 integral to membrane 0 all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.165) CCTCTTGGTGGATTCCTCAGA 0.502 36 104 --- --- --- --- PASS NLRP13 126204 broad.mit.edu 37 19 56436016 56436016 + Missense_Mutation SNP G T T TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr19:56436016G>T uc010ygg.1 - 3 422 c.397C>A c.(397-399)CAG>AAG p.Q133K NM_176810 NP_789780 Q86W25 NAL13_HUMAN NACHT, leucine rich repeat and PYD containing 133 ATP binding skin(4)|ovary(3)|pancreas(1)|lung(1) 9 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) CCCTGGGTCTGCATATTCCCT 0.418 9 45 --- --- --- --- PASS ZNF749 388567 broad.mit.edu 37 19 57956622 57956622 + Missense_Mutation SNP G T T TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr19:57956622G>T uc002qoq.2 + 3 2360 c.2106G>T c.(2104-2106)AGG>AGT p.R702S ZNF547_uc002qpm.3_Intron NM_001023561 NP_001018855 O43361 ZN749_HUMAN zinc finger protein 749 702 C2H2-type 18. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177) GTAAATGTAGGGAATTGTTTA 0.393 6 66 --- --- --- --- PASS ZNF329 79673 broad.mit.edu 37 19 58639458 58639458 + Silent SNP G T T TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr19:58639458G>T uc002qrn.2 - 4 1650 c.1413C>A c.(1411-1413)ACC>ACA p.T471T ZNF329_uc010euk.1_RNA|ZNF329_uc002qro.1_RNA|ZNF329_uc002qrp.1_RNA NM_024620 NP_078896 Q86UD4 ZN329_HUMAN zinc finger protein 329 471 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216) TCTGGTGCTTGGTCAGACAGG 0.507 9 75 --- --- --- --- PASS SLC4A11 83959 broad.mit.edu 37 20 3211213 3211213 + Missense_Mutation SNP G T T TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr20:3211213G>T uc002wig.2 - 11 1459 c.1411C>A c.(1411-1413)CTT>ATT p.L471I SLC4A11_uc010zqe.1_Missense_Mutation_p.L498I|SLC4A11_uc002wih.2_RNA|SLC4A11_uc010zqf.1_Missense_Mutation_p.L455I NM_032034 NP_114423 Q8NBS3 S4A11_HUMAN solute carrier family 4 member 11 471 Helical; (Potential).|Membrane (bicarbonate transporter). cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system basolateral plasma membrane|integral to membrane bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity ovary(1) 1 TAAAGCGCAAGGAAGAAACTA 0.542 6 136 --- --- --- --- PASS RALGAPA2 57186 broad.mit.edu 37 20 20505105 20505105 + Missense_Mutation SNP G A A TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr20:20505105G>A uc002wrz.2 - 30 3988 c.3845C>T c.(3844-3846)GCA>GTA p.A1282V RALGAPA2_uc010gcx.2_Missense_Mutation_p.A986V|RALGAPA2_uc010zsg.1_Missense_Mutation_p.A730V|RALGAPA2_uc002wsa.1_Missense_Mutation_p.A54V NM_020343 NP_065076 Q2PPJ7 RGPA2_HUMAN akt substrate AS250 1282 activation of Ral GTPase activity cytosol|nucleus protein heterodimerization activity|Ral GTPase activator activity ovary(1) 1 CTCTAGGACTGCTGTGGACAC 0.542 6 48 --- --- --- --- PASS ZNF831 128611 broad.mit.edu 37 20 57829592 57829592 + Missense_Mutation SNP A T T TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr20:57829592A>T uc002yan.2 + 5 4828 c.4828A>T c.(4828-4830)AGT>TGT p.S1610C NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN zinc finger protein 831 1610 intracellular nucleic acid binding|zinc ion binding skin(13)|ovary(1) 14 all_lung(29;0.0085) CTCTTTAGGAAGTGACGGTAG 0.498 10 56 --- --- --- --- PASS PDGFB 5155 broad.mit.edu 37 22 39631864 39631864 + Nonsense_Mutation SNP C A A TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr22:39631864C>A uc003axf.2 - 2 1068 c.79G>T c.(79-81)GAG>TAG p.E27* PDGFB_uc003axe.2_Nonsense_Mutation_p.E12* NM_002608 NP_002599 P01127 PDGFB_HUMAN platelet-derived growth factor beta isoform 1 27 activation of protein kinase B activity|cellular response to mycophenolic acid|embryonic placenta development|heart development|hemopoiesis|metanephric glomerular mesangial cell development|monocyte chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|negative regulation of transcription, DNA-dependent|paracrine signaling|peptidyl-serine phosphorylation|peptidyl-tyrosine phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of calcium ion import|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of cyclin-dependent protein kinase activity|positive regulation of DNA biosynthetic process|positive regulation of DNA replication|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of glomerular filtration|positive regulation of glomerular mesangial cell proliferation|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent|reactive oxygen species metabolic process|transforming growth factor beta receptor signaling pathway basolateral plasma membrane|cell surface|endoplasmic reticulum lumen|extracellular region|Golgi membrane|platelet alpha granule lumen collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|superoxide-generating NADPH oxidase activator activity COL1A1/PDGFB(372) soft_tissue(372)|central_nervous_system(1) 373 Melanoma(58;0.04) Becaplermin(DB00102) TAAAGCTCCTCGGGAATGGGG 0.607 T COL1A1 DFSP 3 17 --- --- --- --- PASS PMM1 5372 broad.mit.edu 37 22 41980049 41980049 + Nonsense_Mutation SNP C A A TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr22:41980049C>A uc003bal.2 - 5 450 c.388G>T c.(388-390)GAG>TAG p.E130* NM_002676 NP_002667 Q92871 PMM1_HUMAN phosphomannomutase 1 130 dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine cytosol metal ion binding|phosphomannomutase activity ovary(1) 1 TTCCGGAACTCGATGAAGGTT 0.577 4 57 --- --- --- --- PASS TTLL12 23170 broad.mit.edu 37 22 43575988 43575988 + Missense_Mutation SNP G A A TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr22:43575988G>A uc003bdq.2 - 4 597 c.565C>T c.(565-567)CCG>TCG p.P189S TTLL12_uc003bdr.1_Missense_Mutation_p.P189S NM_015140 NP_055955 Q14166 TTL12_HUMAN tubulin tyrosine ligase-like family, member 12 189 protein modification process tubulin-tyrosine ligase activity central_nervous_system(1) 1 Ovarian(80;0.221)|Glioma(61;0.222) TACCACACCGGCATCTTCTCC 0.612 12 111 --- --- --- --- PASS PARVG 64098 broad.mit.edu 37 22 44583692 44583692 + Nonsense_Mutation SNP G T T TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr22:44583692G>T uc011aqe.1 + 5 605 c.181G>T c.(181-183)GAG>TAG p.E61* PARVG_uc010gzo.2_3'UTR|PARVG_uc010gzp.2_RNA|PARVG_uc003bep.2_Nonsense_Mutation_p.E61*|PARVG_uc010gzr.1_RNA|PARVG_uc011aqf.1_Nonsense_Mutation_p.E61*|PARVG_uc003beq.2_RNA|PARVG_uc003ber.2_RNA NM_001137605 NP_001131077 Q9HBI0 PARVG_HUMAN parvin, gamma 61 CH 1. cell-matrix adhesion cytoplasm|cytoskeleton|focal adhesion actin binding 0 Ovarian(80;0.024)|all_neural(38;0.0299) TCTTCTCCCCGAGCACATTGT 0.502 4 41 --- --- --- --- PASS PKDREJ 10343 broad.mit.edu 37 22 46652800 46652800 + Silent SNP T C C TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr22:46652800T>C uc003bhh.2 - 1 6420 c.6420A>G c.(6418-6420)GAA>GAG p.E2140E NM_006071 NP_006062 Q9NTG1 PKDRE_HUMAN receptor for egg jelly-like protein precursor 2140 Extracellular (Potential). acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity breast(3)|ovary(2) 5 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) TATTGGAAAATTCAGTGTTCT 0.418 10 51 --- --- --- --- PASS GTSE1 51512 broad.mit.edu 37 22 46712232 46712232 + Missense_Mutation SNP G T T TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr22:46712232G>T uc011aqy.1 + 7 1567 c.1355G>T c.(1354-1356)CGA>CTA p.R452L GTSE1_uc011aqz.1_Missense_Mutation_p.R299L|GTSE1_uc003bhl.1_Missense_Mutation_p.R77L|GTSE1_uc003bhm.1_Missense_Mutation_p.R77L NM_016426 NP_057510 Q9NYZ3 GTSE1_HUMAN G-2 and S-phase expressed 1 433 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process cytoplasmic microtubule ovary(1) 1 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00462) ATCAGACGGCGAGATTCCTGT 0.413 6 185 --- --- --- --- PASS PIM3 415116 broad.mit.edu 37 22 50356382 50356382 + Missense_Mutation SNP A G G TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr22:50356382A>G uc003bjb.2 + 5 1115 c.662A>G c.(661-663)TAC>TGC p.Y221C PIM3_uc011arj.1_5'UTR NM_001001852 NP_001001852 Q86V86 PIM3_HUMAN serine/threonine protein kinase pim-3 221 Protein kinase. cell cycle|negative regulation of apoptosis|regulation of mitotic cell cycle ATP binding|protein binding|protein serine/threonine kinase activity 0 all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236) BRCA - Breast invasive adenocarcinoma(115;0.196)|LUAD - Lung adenocarcinoma(64;0.247) TACCACCGCTACCACGGGCGC 0.652 7 26 --- --- --- --- PASS IQSEC2 23096 broad.mit.edu 37 X 53279723 53279723 + Missense_Mutation SNP G A A TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chrX:53279723G>A uc004dsd.2 - 5 2236 c.2035C>T c.(2035-2037)CGG>TGG p.R679W IQSEC2_uc004dsc.2_Missense_Mutation_p.R474W NM_001111125 NP_001104595 Q5JU85 IQEC2_HUMAN IQ motif and Sec7 domain 2 isoform1 669 regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity ovary(3) 3 CCCAACCTCCGACCCCCAGCC 0.433 8 8 --- --- --- --- PASS TEX11 56159 broad.mit.edu 37 X 69898679 69898679 + Missense_Mutation SNP C G G TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chrX:69898679C>G uc004dyl.2 - 16 1424 c.1262G>C c.(1261-1263)TGG>TCG p.W421S TEX11_uc004dyk.2_Missense_Mutation_p.W96S|TEX11_uc004dym.2_Missense_Mutation_p.W406S NM_001003811 NP_001003811 Q8IYF3 TEX11_HUMAN testis expressed sequence 11 isoform 1 421 protein binding ovary(3)|breast(1)|skin(1) 5 Renal(35;0.156) AGCTTGTCTCCACAGAATGTT 0.343 4 14 --- --- --- --- PASS TCEAL2 140597 broad.mit.edu 37 X 101381881 101381881 + Nonsense_Mutation SNP G T T TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chrX:101381881G>T uc004eip.2 + 3 298 c.79G>T c.(79-81)GAG>TAG p.E27* NM_080390 NP_525129 Q9H3H9 TCAL2_HUMAN transcription elongation factor A (SII)-like 2 27 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 GCCACCGCACGAGGGAAAGCC 0.433 4 85 --- --- --- --- PASS PLXNB3 5365 broad.mit.edu 37 X 153036446 153036446 + Missense_Mutation SNP G T T TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chrX:153036446G>T uc004fii.2 + 12 2337 c.2163G>T c.(2161-2163)TGG>TGT p.W721C PLXNB3_uc011mzb.1_Missense_Mutation_p.G177V|PLXNB3_uc011mzc.1_Missense_Mutation_p.W403C|PLXNB3_uc010nuk.2_Missense_Mutation_p.W744C|PLXNB3_uc011mzd.1_Missense_Mutation_p.W360C NM_005393 NP_005384 Q9ULL4 PLXB3_HUMAN plexin B3 isoform 1 721 Extracellular (Potential). axon guidance integral to membrane|intracellular|plasma membrane protein binding|receptor activity lung(1) 1 all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05) TCCACTGCTGGCTGGAGCTGC 0.652 21 19 --- --- --- --- PASS NFE2L3 9603 broad.mit.edu 37 7 26192226 26192228 + In_Frame_Del DEL GCC - - TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr7:26192226_26192228delGCC uc003sxq.2 + 1 380_382 c.108_110delGCC c.(106-111)CTGCCG>CTG p.P39del NM_004289 NP_004280 Q9Y4A8 NF2L3_HUMAN nuclear factor erythroid 2-like 3 39 Leu-rich. transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity skin(3)|ovary(1) 4 ACCTGCTGCTGCCGCCGCCCACC 0.724 4 2 --- --- --- --- Unknown 0 broad.mit.edu 37 9 132903768 132903768 + RNA DEL A - - rs11299315 TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr9:132903768delA uc004bzh.1 - 2 c.2379delT Homo sapiens cDNA FLJ46836 fis, clone UTERU2029660. actctgtcttaaaaaaaaaaa 0.204 4 2 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7578213 7578214 + Frame_Shift_Del DEL AA - - TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr17:7578213_7578214delAA uc002gim.2 - 6 829_830 c.635_636delTT c.(634-636)TTTfs p.F212fs TP53_uc002gig.1_Frame_Shift_Del_p.F212fs|TP53_uc002gih.2_Frame_Shift_Del_p.F212fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Del_p.F80fs|TP53_uc010cng.1_Frame_Shift_Del_p.F80fs|TP53_uc002gii.1_Frame_Shift_Del_p.F80fs|TP53_uc010cnh.1_Frame_Shift_Del_p.F212fs|TP53_uc010cni.1_Frame_Shift_Del_p.F212fs|TP53_uc002gij.2_Frame_Shift_Del_p.F212fs|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Frame_Shift_Del_p.F119fs|TP53_uc002gio.2_Frame_Shift_Del_p.F80fs|TP53_uc010vug.1_Frame_Shift_Del_p.F173fs NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 212 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). F -> S (in sporadic cancers; somatic mutation).|F -> L (in sporadic cancers; somatic mutation).|F -> I (in sporadic cancers; somatic mutation).|F -> Y (in sporadic cancers; somatic mutation).|F -> V (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.F212fs*3(7)|p.0?(7)|p.F212L(3)|p.F212S(2)|p.F212I(2)|p.D208fs*1(1)|p.T211_F212insX(1)|p.R209_R213delRNTFR(1)|p.D207_R213delDDRNTFR(1)|p.T211fs*28(1)|p.T211_S215delTFRHS(1)|p.K164_P219del(1)|p.D207_V216del10(1)|p.F212fs*4(1)|p.F212Y(1)|p.R209fs*6(1)|p.D208_V216delDRNTFRHSV(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) CACTATGTCGAAAAGTGTTTCT 0.535 111 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) 29 13 --- --- --- --- Unknown 0 broad.mit.edu 37 19 47141196 47141197 + RNA INS - CTGT CTGT rs144076797 by1000genomes TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c5b09119-0237-4804-a4f9-b67d676b8674 09e5f5f4-5e35-4b88-a266-25649c08bb77 g.chr19:47141196_47141197insCTGT uc002pez.1 - 1 c.1222_1223insACAG Homo sapiens cDNA FLJ10148 fis, clone HEMBA1003370. GCCAACACAGACTGACACTCAC 0.426 3 4 --- --- --- ---