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 PRAMEF11 440560 broad.mit.edu 37 1 12885059 12885059 + Missense_Mutation SNP C G G rs143004725 by1000genomes TCGA-26-5135-01A-01D-1486-08 TCGA-26-5135-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 2ce48f01-2f61-49d9-a56a-7438bf4a37d7 8f36ad24-c425-4474-9d03-a5198e2e4901 g.chr1:12885059C>G uc001auk.2 - 4 1248 c.1052G>C c.(1051-1053)TGC>TCC p.C351S NM_001146344 NP_001139816 O60813 PRA11_HUMAN PRAME family member 11 351 LRR 6. 0 GGTGGCCATGCAGATGGGATT 0.532 HCRTR1 3061 broad.mit.edu 37 1 32084853 32084853 + Silent SNP G A A rs142288232 TCGA-26-5135-01A-01D-1486-08 TCGA-26-5135-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 2ce48f01-2f61-49d9-a56a-7438bf4a37d7 8f36ad24-c425-4474-9d03-a5198e2e4901 g.chr1:32084853G>A uc009vtx.2 + 3 445 c.60G>A c.(58-60)CCG>CCA p.P20P HCRTR1_uc001btb.2_Intron|HCRTR1_uc001btc.3_5'UTR|HCRTR1_uc001btd.2_Silent_p.P20P|HCRTR1_uc010ogl.1_Silent_p.P20P NM_001525 NP_001516 O43613 OX1R_HUMAN orexin receptor 1 20 Extracellular (Potential). feeding behavior|neuropeptide signaling pathway|synaptic transmission integral to plasma membrane ovary(1) 1 Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116) STAD - Stomach adenocarcinoma(196;0.053) GCAGAGAGCCGTCCCCTGTGC 0.607 MSH4 4438 broad.mit.edu 37 1 76269590 76269590 + Missense_Mutation SNP G A A TCGA-26-5135-01A-01D-1486-08 TCGA-26-5135-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 2ce48f01-2f61-49d9-a56a-7438bf4a37d7 8f36ad24-c425-4474-9d03-a5198e2e4901 g.chr1:76269590G>A uc001dhd.1 + 2 460 c.419G>A c.(418-420)GGA>GAA p.G140E NM_002440 NP_002431 O15457 MSH4_HUMAN mutS homolog 4 140 chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination synaptonemal complex ATP binding|DNA-dependent ATPase activity|mismatched DNA binding lung(3)|ovary(2) 5 CCACAAGTGGGATATTCAGGT 0.313 MMR KCNA10 3744 broad.mit.edu 37 1 111061339 111061339 + Missense_Mutation SNP T A A TCGA-26-5135-01A-01D-1486-08 TCGA-26-5135-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 2ce48f01-2f61-49d9-a56a-7438bf4a37d7 8f36ad24-c425-4474-9d03-a5198e2e4901 g.chr1:111061339T>A uc001dzt.1 - 1 459 c.71A>T c.(70-72)GAA>GTA p.E24V NM_005549 NP_005540 Q16322 KCA10_HUMAN potassium voltage-gated channel, shaker-related 24 voltage-gated potassium channel complex intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity ovary(3)|large_intestine(1) 4 all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301) Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134) GCCTGGCTCTTCTTGGATTTC 0.522 TRIM33 51592 broad.mit.edu 37 1 114969900 114969900 + Missense_Mutation SNP C T T TCGA-26-5135-01A-01D-1486-08 TCGA-26-5135-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 2ce48f01-2f61-49d9-a56a-7438bf4a37d7 8f36ad24-c425-4474-9d03-a5198e2e4901 g.chr1:114969900C>T uc001eew.2 - 8 1403 c.1319G>A c.(1318-1320)CGT>CAT p.R440H TRIM33_uc010owr.1_Missense_Mutation_p.R48H|TRIM33_uc010ows.1_Missense_Mutation_p.R48H|TRIM33_uc001eex.2_Missense_Mutation_p.R440H NM_015906 NP_056990 Q9UPN9 TRI33_HUMAN tripartite motif-containing 33 protein isoform 440 negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent nucleus co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding lung(4)|central_nervous_system(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1) 11 all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184) all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) CAAAATATGACGCAACTGGAA 0.353 T RET papillary thyroid CRTC2 200186 broad.mit.edu 37 1 153927550 153927550 + Silent SNP G A A TCGA-26-5135-01A-01D-1486-08 TCGA-26-5135-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 2ce48f01-2f61-49d9-a56a-7438bf4a37d7 8f36ad24-c425-4474-9d03-a5198e2e4901 g.chr1:153927550G>A uc010ped.1 - 2 316 c.246C>T c.(244-246)GCC>GCT p.A82A CRTC2_uc001fde.3_5'Flank|CRTC2_uc001fdf.3_5'Flank NM_181715 NP_859066 Q53ET0 CRTC2_HUMAN CREB regulated transcription coactivator 2 82 interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding ovary(2) 2 all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) CCTGGAACTCGGCCAGGCCAG 0.547 GON4L 54856 broad.mit.edu 37 1 155791284 155791284 + Missense_Mutation SNP G A A TCGA-26-5135-01A-01D-1486-08 TCGA-26-5135-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 2ce48f01-2f61-49d9-a56a-7438bf4a37d7 8f36ad24-c425-4474-9d03-a5198e2e4901 g.chr1:155791284G>A uc001flz.2 - 5 1041 c.944C>T c.(943-945)ACG>ATG p.T315M GON4L_uc001fly.1_Missense_Mutation_p.T315M|GON4L_uc009wrh.1_Missense_Mutation_p.T315M|GON4L_uc001fma.1_Missense_Mutation_p.T315M|GON4L_uc001fmc.2_Missense_Mutation_p.T315M|GON4L_uc001fmd.3_Missense_Mutation_p.T315M|GON4L_uc009wri.2_Translation_Start_Site|GON4L_uc001fme.2_Missense_Mutation_p.T143M|GON4L_uc001fmf.2_Missense_Mutation_p.T9M NM_001037533 NP_001032622 Q3T8J9 GON4L_HUMAN gon-4-like isoform a 315 regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding ovary(3) 3 Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195) CATATCTTCCGTCTCACTGAT 0.398 SPTA1 6708 broad.mit.edu 37 1 158609712 158609712 + Missense_Mutation SNP C T T TCGA-26-5135-01A-01D-1486-08 TCGA-26-5135-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 2ce48f01-2f61-49d9-a56a-7438bf4a37d7 8f36ad24-c425-4474-9d03-a5198e2e4901 g.chr1:158609712C>T uc001fst.1 - 34 5022 c.4823G>A c.(4822-4824)CGT>CAT p.R1608H NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 1608 Spectrin 16. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) CCTCTGTTGACGACTGGCCTC 0.463 DUSP27 92235 broad.mit.edu 37 1 167096396 167096396 + Silent SNP G A A TCGA-26-5135-01A-01D-1486-08 TCGA-26-5135-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 2ce48f01-2f61-49d9-a56a-7438bf4a37d7 8f36ad24-c425-4474-9d03-a5198e2e4901 g.chr1:167096396G>A uc001geb.1 + 5 2028 c.2028G>A c.(2026-2028)ACG>ACA p.T676T NM_001080426 NP_001073895 Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 676 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity ovary(3) 3 GGGACACGACGTCAGTACTGA 0.637 C4BPB 725 broad.mit.edu 37 1 207263727 207263727 + Missense_Mutation SNP G T T TCGA-26-5135-01A-01D-1486-08 TCGA-26-5135-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 2ce48f01-2f61-49d9-a56a-7438bf4a37d7 8f36ad24-c425-4474-9d03-a5198e2e4901 g.chr1:207263727G>T uc001hfj.2 + 3 263 c.133G>T c.(133-135)GGG>TGG p.G45W C4BPB_uc001hfi.2_Missense_Mutation_p.G44W|C4BPB_uc001hfk.2_Missense_Mutation_p.G44W|C4BPB_uc001hfl.2_Missense_Mutation_p.G45W|C4BPB_uc009xcd.2_Missense_Mutation_p.G35W|C4BPB_uc001hfm.2_Missense_Mutation_p.G45W|C4BPB_uc010pse.1_Missense_Mutation_p.G35W NM_001017365 NP_001017365 P20851 C4BPB_HUMAN complement component 4 binding protein, beta 45 Sushi 1. blood coagulation|complement activation, classical pathway|innate immune response extracellular region ovary(1) 1 ACAGATTCTGGGGACTTACGT 0.473 OR2L13 284521 broad.mit.edu 37 1 248263039 248263039 + Missense_Mutation SNP G A A TCGA-26-5135-01A-01D-1486-08 TCGA-26-5135-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 2ce48f01-2f61-49d9-a56a-7438bf4a37d7 8f36ad24-c425-4474-9d03-a5198e2e4901 g.chr1:248263039G>A uc001ids.2 + 3 699 c.362G>A c.(361-363)CGT>CAT p.R121H NM_175911 NP_787107 Q8N349 OR2LD_HUMAN olfactory receptor, family 2, subfamily L, 121 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity|protein binding central_nervous_system(2)|ovary(1)|skin(1) 4 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0132) GCCTACGACCGTTATTTGGCC 0.498 SVIL 6840 broad.mit.edu 37 10 29751331 29751331 + Splice_Site SNP C T T TCGA-26-5135-01A-01D-1486-08 TCGA-26-5135-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 2ce48f01-2f61-49d9-a56a-7438bf4a37d7 8f36ad24-c425-4474-9d03-a5198e2e4901 g.chr10:29751331C>T uc001iut.1 - 36 7031 c.6278_splice c.e36-1 p.G2093_splice LOC387647_uc001iuo.1_Intron|LOC387647_uc001iup.2_Intron|LOC387647_uc001iuq.1_Intron|SVIL_uc010qdw.1_Splice_Site_p.G1007_splice|SVIL_uc001iuu.1_Splice_Site_p.G1667_splice NM_021738 NP_068506 O95425 SVIL_HUMAN supervillin isoform 2 cytoskeleton organization|skeletal muscle tissue development cell junction|costamere|invadopodium|nucleus|podosome actin filament binding ovary(5)|upper_aerodigestive_tract(1) 6 Breast(68;0.103) AGATTTTTTCCTGTAGTTACA 0.468 MUC5B 727897 broad.mit.edu 37 11 1250506 1250506 + Silent SNP C T T TCGA-26-5135-01A-01D-1486-08 TCGA-26-5135-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 2ce48f01-2f61-49d9-a56a-7438bf4a37d7 8f36ad24-c425-4474-9d03-a5198e2e4901 g.chr11:1250506C>T uc009ycr.1 + 25 3177 c.3051C>T c.(3049-3051)GAC>GAT p.D1017D MUC5B_uc009yct.1_Silent_p.D361D|MUC5B_uc001ltb.2_Silent_p.D361D|MUC5B_uc001lta.2_Silent_p.D29D NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 361 TIL 1. 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) ACTGTGTGGACGGCTGCTTCT 0.682 UBQLN3 50613 broad.mit.edu 37 11 5529918 5529920 + In_Frame_Del DEL TGG - - rs2234451 byFrequency TCGA-26-5135-01A-01D-1486-08 TCGA-26-5135-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 2ce48f01-2f61-49d9-a56a-7438bf4a37d7 8f36ad24-c425-4474-9d03-a5198e2e4901 g.chr11:5529918_5529920delTGG uc001may.1 - 2 955_957 c.869_871delCCA c.(868-873)ACCAGC>AGC p.T290del HBG2_uc001mak.1_Intron NM_017481 NP_059509 Q9H347 UBQL3_HUMAN ubiquilin 3 290 ovary(3) 3 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GAAGGTTGGCTGGTGGTGGTGGT 0.537 GAPDH 2597 broad.mit.edu 37 12 6647098 6647098 + Missense_Mutation SNP T G G TCGA-26-5135-01A-01D-1486-08 TCGA-26-5135-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 2ce48f01-2f61-49d9-a56a-7438bf4a37d7 8f36ad24-c425-4474-9d03-a5198e2e4901 g.chr12:6647098T>G uc001qop.1 + 8 976 c.874T>G c.(874-876)TCC>GCC p.S292A GAPDH_uc009zep.1_Missense_Mutation_p.S250A|GAPDH_uc001qoq.1_Missense_Mutation_p.S217A|GAPDH_uc001qor.1_Missense_Mutation_p.S251A|GAPDH_uc001qos.1_Missense_Mutation_p.S292A|GAPDH_uc001qot.1_Missense_Mutation_p.S292A|GAPDH_uc001qou.1_Missense_Mutation_p.S251A|GAPDH_uc001qov.1_Missense_Mutation_p.S250A|GAPDH_uc001qow.1_Missense_Mutation_p.S245A|GAPDH_uc001qox.1_Missense_Mutation_p.S118A NM_002046 NP_002037 P04406 G3P_HUMAN glyceraldehyde-3-phosphate dehydrogenase 292 gluconeogenesis|glycolysis|neuron apoptosis|peptidyl-cysteine S-trans-nitrosylation|protein stabilization cytosol|membrane|nucleus|perinuclear region of cytoplasm glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|peptidyl-cysteine S-nitrosylase activity|protein binding 0 NADH(DB00157) CGACACCCACTCCTCCACCTT 0.582 OREG0021628 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) ATF7IP 55729 broad.mit.edu 37 12 14650695 14650695 + Silent SNP G A A TCGA-26-5135-01A-01D-1486-08 TCGA-26-5135-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 2ce48f01-2f61-49d9-a56a-7438bf4a37d7 8f36ad24-c425-4474-9d03-a5198e2e4901 g.chr12:14650695G>A uc001rbw.2 + 15 3659 c.3501G>A c.(3499-3501)AAG>AAA p.K1167K ATF7IP_uc001rbx.2_Silent_p.K1166K|ATF7IP_uc001rby.3_Silent_p.K1167K|ATF7IP_uc001rca.2_Silent_p.K1167K NM_018179 NP_060649 Q6VMQ6 MCAF1_HUMAN activating transcription factor 7 interacting 1167 Interaction with MBD1.|Fibronectin type-III. 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 CACACTTGAAGTTAGCACGCG 0.547 PDE3A 5139 broad.mit.edu 37 12 20769164 20769164 + Missense_Mutation SNP C T T TCGA-26-5135-01A-01D-1486-08 TCGA-26-5135-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 2ce48f01-2f61-49d9-a56a-7438bf4a37d7 8f36ad24-c425-4474-9d03-a5198e2e4901 g.chr12:20769164C>T uc001reh.1 + 4 1292 c.1270C>T c.(1270-1272)CGC>TGC p.R424C NM_000921 NP_000912 Q14432 PDE3A_HUMAN phosphodiesterase 3A 424 lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding ovary(3)|upper_aerodigestive_tract(1) 4 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) TCTTTCCTAGCGCCTGAGAAG 0.428 SOAT2 8435 broad.mit.edu 37 12 53512677 53512677 + Silent SNP G A A TCGA-26-5135-01A-01D-1486-08 TCGA-26-5135-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 2ce48f01-2f61-49d9-a56a-7438bf4a37d7 8f36ad24-c425-4474-9d03-a5198e2e4901 g.chr12:53512677G>A uc001sbv.2 + 9 955 c.867G>A c.(865-867)ACG>ACA p.T289T SOAT2_uc009zms.2_Intron NM_003578 NP_003569 O75908 SOAT2_HUMAN acyl-CoA:cholesterol acyltransferase 2 289 cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly brush border|endoplasmic reticulum membrane|integral to membrane|microsome cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding ovary(1) 1 GCTGCAGGACGCCCTATGTCA 0.532 CYP27B1 1594 broad.mit.edu 37 12 58158993 58158993 + Silent SNP G T T TCGA-26-5135-01A-01D-1486-08 TCGA-26-5135-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 2ce48f01-2f61-49d9-a56a-7438bf4a37d7 8f36ad24-c425-4474-9d03-a5198e2e4901 g.chr12:58158993G>T uc001spz.1 - 4 743 c.591C>A c.(589-591)GGC>GGA p.G197G CYP27B1_uc001sqa.1_5'UTR|CYP27B1_uc001sqb.1_Missense_Mutation_p.H78N|CYP27B1_uc001sqc.1_Missense_Mutation_p.H78N NM_000785 NP_000776 O15528 CP27B_HUMAN cytochrome P450, family 27, subfamily B, 197 bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process mitochondrial outer membrane calcidiol 1-monooxygenase activity|electron carrier activity|heme binding central_nervous_system(3) 3 all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294) Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153) CCGCGGCGATGCCTTGTCGGG 0.687 OREG0021953 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) EFNB2 1948 broad.mit.edu 37 13 107187289 107187289 + Silent SNP C A A TCGA-26-5135-01A-01D-1486-08 TCGA-26-5135-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 2ce48f01-2f61-49d9-a56a-7438bf4a37d7 8f36ad24-c425-4474-9d03-a5198e2e4901 g.chr13:107187289C>A uc001vqi.2 - 1 49 c.24G>T c.(22-24)GTG>GTT p.V8V NM_004093 NP_004084 P52799 EFNB2_HUMAN ephrin B2 precursor 8 cell differentiation|cell-cell signaling|interspecies interaction between organisms|nervous system development integral to plasma membrane ephrin receptor binding ovary(1) 1 Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169) AGTACTTCCACACGGAGTCCC 0.542 CTSG 1511 broad.mit.edu 37 14 25043934 25043934 + Missense_Mutation SNP G T T TCGA-26-5135-01A-01D-1486-08 TCGA-26-5135-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 2ce48f01-2f61-49d9-a56a-7438bf4a37d7 8f36ad24-c425-4474-9d03-a5198e2e4901 g.chr14:25043934G>T uc001wpq.2 - 3 323 c.286C>A c.(286-288)CGC>AGC p.R96S NM_001911 NP_001902 P08311 CATG_HUMAN cathepsin G preproprotein 96 Peptidase S1. immune response|proteolysis cell surface|extracellular space|plasma membrane|stored secretory granule heparin binding|serine-type endopeptidase activity ovary(2) 2 GBM - Glioblastoma multiforme(265;0.0269) TGAGGGTGGCGGATGGCTCTG 0.532 LRFN5 145581 broad.mit.edu 37 14 42356801 42356801 + Missense_Mutation SNP G T T TCGA-26-5135-01A-01D-1486-08 TCGA-26-5135-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 2ce48f01-2f61-49d9-a56a-7438bf4a37d7 8f36ad24-c425-4474-9d03-a5198e2e4901 g.chr14:42356801G>T uc001wvm.2 + 3 2171 c.973G>T c.(973-975)GGG>TGG p.G325W LRFN5_uc010ana.2_Missense_Mutation_p.G325W NM_152447 NP_689660 Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III 325 Extracellular (Potential).|Ig-like. integral to membrane ovary(5)|pancreas(2)|central_nervous_system(1) 8 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) TTCTCCTGAAGGGAAGCTTAT 0.453 HNSCC(30;0.082) FOXN3 1112 broad.mit.edu 37 14 89647054 89647054 + Missense_Mutation SNP G A A TCGA-26-5135-01A-01D-1486-08 TCGA-26-5135-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 2ce48f01-2f61-49d9-a56a-7438bf4a37d7 8f36ad24-c425-4474-9d03-a5198e2e4901 g.chr14:89647054G>A uc001xxo.3 - 6 1045 c.908C>T c.(907-909)GCG>GTG p.A303V FOXN3_uc001xxn.3_Missense_Mutation_p.A281V|FOXN3_uc010atk.2_Missense_Mutation_p.A281V NM_001085471 NP_001078940 O00409 FOXN3_HUMAN checkpoint suppressor 1 isoform 1 303 DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding skin(2)|ovary(1) 3 CCTCATGGCCGCTGTCACCCC 0.637 BAHD1 22893 broad.mit.edu 37 15 40758215 40758215 + Silent SNP C T T TCGA-26-5135-01A-01D-1486-08 TCGA-26-5135-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 2ce48f01-2f61-49d9-a56a-7438bf4a37d7 8f36ad24-c425-4474-9d03-a5198e2e4901 g.chr15:40758215C>T uc001zlu.2 + 7 2300 c.2229C>T c.(2227-2229)GAC>GAT p.D743D BAHD1_uc001zlt.2_Silent_p.D742D|BAHD1_uc010bbp.1_Silent_p.D739D|BAHD1_uc001zlv.2_Silent_p.D740D NM_014952 NP_055767 Q8TBE0 BAHD1_HUMAN bromo adjacent homology domain containing 1 743 BAH. heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent chromatin silencing complex|chromosome chromatin binding|DNA binding|protein binding 0 all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08) CCTCTGCAGACTATTCCACCC 0.602 TARSL2 123283 broad.mit.edu 37 15 102242566 102242566 + Missense_Mutation SNP C T T TCGA-26-5135-01A-01D-1486-08 TCGA-26-5135-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 2ce48f01-2f61-49d9-a56a-7438bf4a37d7 8f36ad24-c425-4474-9d03-a5198e2e4901 g.chr15:102242566C>T uc002bxm.2 - 9 1152 c.1097G>A c.(1096-1098)GGC>GAC p.G366D TARSL2_uc002bxl.2_5'UTR|TARSL2_uc010usi.1_RNA NM_152334 NP_689547 A2RTX5 SYTC2_HUMAN threonyl-tRNA synthetase-like 2 366 threonyl-tRNA aminoacylation cytoplasm ATP binding|threonine-tRNA ligase activity ovary(2) 2 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) TTCCGGATTGCCCTCCCAATA 0.353 IL32 9235 broad.mit.edu 37 16 3119233 3119233 + Silent SNP C T T TCGA-26-5135-01A-01D-1486-08 TCGA-26-5135-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 2ce48f01-2f61-49d9-a56a-7438bf4a37d7 8f36ad24-c425-4474-9d03-a5198e2e4901 g.chr16:3119233C>T uc002cto.2 + 6 793 c.582C>T c.(580-582)TTC>TTT p.F194F IL32_uc002ctk.2_Intron|IL32_uc010uwp.1_Silent_p.F128F|IL32_uc010btb.2_Silent_p.F138F|IL32_uc002ctl.2_Silent_p.F148F|IL32_uc002ctm.2_Silent_p.F148F|IL32_uc002ctn.2_Silent_p.F148F|IL32_uc002cts.3_Silent_p.F148F|IL32_uc002ctp.2_Silent_p.F128F|IL32_uc002ctq.2_Silent_p.F194F|IL32_uc002ctr.2_Silent_p.F128F|IL32_uc002ctt.2_Silent_p.F148F|IL32_uc010uwr.1_Silent_p.F108F|IL32_uc002ctu.2_Silent_p.F139F NM_004221 NP_004212 P24001 IL32_HUMAN interleukin 32 isoform B 194 cell adhesion|defense response|immune response extracellular space cytokine activity pancreas(1) 1 GGAAACAGTTCCAGAGTTTCT 0.612 ITGAM 3684 broad.mit.edu 37 16 31309135 31309135 + Missense_Mutation SNP G T T TCGA-26-5135-01A-01D-1486-08 TCGA-26-5135-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 2ce48f01-2f61-49d9-a56a-7438bf4a37d7 8f36ad24-c425-4474-9d03-a5198e2e4901 g.chr16:31309135G>T uc002ebq.2 + 14 1665 c.1567G>T c.(1567-1569)GCC>TCC p.A523S ITGAM_uc002ebr.2_Missense_Mutation_p.A524S|ITGAM_uc010cam.1_Intron|ITGAM_uc010can.2_Intron NM_000632 NP_000623 P11215 ITAM_HUMAN integrin alpha M isoform 2 precursor 523 FG-GAP 6.|Extracellular (Potential). blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration integrin complex glycoprotein binding|receptor activity kidney(1) 1 CTTTGGGGCAGCCCTAACAGT 0.607 CHST5 23563 broad.mit.edu 37 16 75564025 75564025 + Silent SNP G A A TCGA-26-5135-01A-01D-1486-08 TCGA-26-5135-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 2ce48f01-2f61-49d9-a56a-7438bf4a37d7 8f36ad24-c425-4474-9d03-a5198e2e4901 g.chr16:75564025G>A uc002fei.2 - 3 1653 c.258C>T c.(256-258)CCC>CCT p.P86P CHST5_uc002fej.1_Silent_p.P92P NM_024533 NP_078809 Q9GZS9 CHST5_HUMAN carbohydrate (N-acetylglucosamine 6-O) 86 Lumenal (Potential). N-acetylglucosamine metabolic process|protein sulfation integral to membrane|intrinsic to Golgi membrane N-acetylglucosamine 6-O-sulfotransferase activity 0 AGAAGACGTCGGGGTGCTGGC 0.677 SUPT6H 6830 broad.mit.edu 37 17 27010834 27010834 + Silent SNP G A A TCGA-26-5135-01A-01D-1486-08 TCGA-26-5135-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 2ce48f01-2f61-49d9-a56a-7438bf4a37d7 8f36ad24-c425-4474-9d03-a5198e2e4901 g.chr17:27010834G>A uc002hby.2 + 17 2319 c.2229G>A c.(2227-2229)AAG>AAA p.K743K SUPT6H_uc010crt.2_Silent_p.K743K NM_003170 NP_003161 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog 743 chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity ovary(2)|skin(1) 3 Lung NSC(42;0.00431) ATGTCATAAAGGTGAGGACAG 0.294 DSG4 147409 broad.mit.edu 37 18 28968937 28968937 + Missense_Mutation SNP C T T TCGA-26-5135-01A-01D-1486-08 TCGA-26-5135-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 2ce48f01-2f61-49d9-a56a-7438bf4a37d7 8f36ad24-c425-4474-9d03-a5198e2e4901 g.chr18:28968937C>T uc002kwq.2 + 5 608 c.473C>T c.(472-474)TCG>TTG p.S158L DSG4_uc002kwr.2_Missense_Mutation_p.S158L NM_177986 NP_817123 Q86SJ6 DSG4_HUMAN desmoglein 4 isoform 2 preproprotein 158 Cadherin 2.|Extracellular (Potential). Missing (in LAH1). homophilic cell adhesion desmosome|integral to membrane calcium ion binding central_nervous_system(5)|ovary(3) 8 OV - Ovarian serous cystadenocarcinoma(10;0.00504) CCAGTCTTTTCGCAAAGTGTA 0.413 ZNF57 126295 broad.mit.edu 37 19 2918067 2918067 + Missense_Mutation SNP A G G TCGA-26-5135-01A-01D-1486-08 TCGA-26-5135-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 2ce48f01-2f61-49d9-a56a-7438bf4a37d7 8f36ad24-c425-4474-9d03-a5198e2e4901 g.chr19:2918067A>G uc002lwr.2 + 4 1596 c.1448A>G c.(1447-1449)AAA>AGA p.K483R ZNF57_uc010xha.1_Missense_Mutation_p.K451R NM_173480 NP_775751 Q68EA5 ZNF57_HUMAN zinc finger protein 57 483 C2H2-type 12. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18) CAATGTGGAAAAACCTTCACT 0.448 MUC16 94025 broad.mit.edu 37 19 9062081 9062081 + Silent SNP G C C TCGA-26-5135-01A-01D-1486-08 TCGA-26-5135-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 2ce48f01-2f61-49d9-a56a-7438bf4a37d7 8f36ad24-c425-4474-9d03-a5198e2e4901 g.chr19:9062081G>C uc002mkp.2 - 3 25569 c.25365C>G c.(25363-25365)TCC>TCG p.S8455S NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 8457 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 TTCCCCTAGAGGATATCACTT 0.522 FBXL12 54850 broad.mit.edu 37 19 9921682 9921682 + Missense_Mutation SNP C T T TCGA-26-5135-01A-01D-1486-08 TCGA-26-5135-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 2ce48f01-2f61-49d9-a56a-7438bf4a37d7 8f36ad24-c425-4474-9d03-a5198e2e4901 g.chr19:9921682C>T uc002mme.2 - 3 1113 c.871G>A c.(871-873)GGG>AGG p.G291R FBXL12_uc002mmd.2_Missense_Mutation_p.G238R|FBXL12_uc002mmf.2_Missense_Mutation_p.G238R|FBXL12_uc002mmg.2_Missense_Mutation_p.G238R|FBXL12_uc002mmh.2_Missense_Mutation_p.G238R NM_017703 NP_060173 Q9NXK8 FXL12_HUMAN F-box and leucine-rich repeat protein 12 291 LRR 8. protein binding lung(1)|kidney(1) 2 CACCCCAGCCCCTGCAGCTCA 0.612 JAK3 3718 broad.mit.edu 37 19 17945947 17945947 + Silent SNP C T T TCGA-26-5135-01A-01D-1486-08 TCGA-26-5135-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 2ce48f01-2f61-49d9-a56a-7438bf4a37d7 8f36ad24-c425-4474-9d03-a5198e2e4901 g.chr19:17945947C>T uc002nhn.3 - 15 2092 c.1992G>A c.(1990-1992)CCG>CCA p.P664P JAK3_uc010ebh.2_Intron|JAK3_uc002nho.2_Silent_p.P664P NM_000215 NP_000206 P52333 JAK3_HUMAN Janus kinase 3 664 Protein kinase 1. B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis cytoskeleton|cytosol|endomembrane system|membrane ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding haematopoietic_and_lymphoid_tissue(40)|lung(5)|breast(5)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1) 56 TGATGAAGGGCGGGCTCCCAT 0.637 2 Mis acute megakaryocytic leukemia| CD22 933 broad.mit.edu 37 19 35837570 35837570 + Missense_Mutation SNP A C C TCGA-26-5135-01A-01D-1486-08 TCGA-26-5135-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 2ce48f01-2f61-49d9-a56a-7438bf4a37d7 8f36ad24-c425-4474-9d03-a5198e2e4901 g.chr19:35837570A>C uc010edt.2 + 14 2591 c.2514A>C c.(2512-2514)GAA>GAC p.E838D CD22_uc010xst.1_Missense_Mutation_p.E666D|CD22_uc010edu.2_Missense_Mutation_p.E750D|CD22_uc010edv.2_3'UTR|CD22_uc002nzb.3_Missense_Mutation_p.E661D|CD22_uc010edx.2_RNA NM_001771 NP_001762 P20273 CD22_HUMAN CD22 molecule precursor 838 Cytoplasmic (Potential). cell adhesion protein binding|sugar binding ovary(5)|lung(3)|breast(1) 9 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417) OspA lipoprotein(DB00045) AGGCACAAGAAAATGTGGACT 0.552 SIPA1L3 23094 broad.mit.edu 37 19 38572329 38572329 + Nonsense_Mutation SNP C T T TCGA-26-5135-01A-01D-1486-08 TCGA-26-5135-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 2ce48f01-2f61-49d9-a56a-7438bf4a37d7 8f36ad24-c425-4474-9d03-a5198e2e4901 g.chr19:38572329C>T uc002ohk.2 + 3 633 c.124C>T c.(124-126)CAG>TAG p.Q42* NM_015073 NP_055888 O60292 SI1L3_HUMAN signal-induced proliferation-associated 1 like 42 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity ovary(1)|central_nervous_system(1) 2 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) ATTCTGGGCCCAGAATGGCAG 0.572 ZNF285 26974 broad.mit.edu 37 19 44891167 44891167 + Missense_Mutation SNP C T T TCGA-26-5135-01A-01D-1486-08 TCGA-26-5135-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 2ce48f01-2f61-49d9-a56a-7438bf4a37d7 8f36ad24-c425-4474-9d03-a5198e2e4901 g.chr19:44891167C>T uc002ozd.3 - 4 1327 c.1240G>A c.(1240-1242)GTT>ATT p.V414I ZFP112_uc010xwz.1_Intron|ZNF285_uc010xxa.1_Missense_Mutation_p.V421I NM_152354 NP_689567 Q96NJ3 ZN285_HUMAN zinc finger protein 285 414 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|skin(2) 4 ACTTGAAGAACGGAGCTTGAA 0.488 CKM 1158 broad.mit.edu 37 19 45821144 45821144 + Missense_Mutation SNP C T T TCGA-26-5135-01A-01D-1486-08 TCGA-26-5135-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 2ce48f01-2f61-49d9-a56a-7438bf4a37d7 8f36ad24-c425-4474-9d03-a5198e2e4901 g.chr19:45821144C>T uc002pbd.2 - 3 361 c.287G>A c.(286-288)CGC>CAC p.R96H NM_001824 NP_001815 P06732 KCRM_HUMAN muscle creatine kinase 96 Phosphagen kinase N-terminal. creatine metabolic process cytosol ATP binding|creatine kinase activity skin(1) 1 Ovarian(192;0.0336)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07) Creatine(DB00148) GCCCCCGTGGCGATCCGAGAT 0.582 ZNF805 390980 broad.mit.edu 37 19 57765629 57765629 + Missense_Mutation SNP A C C TCGA-26-5135-01A-01D-1486-08 TCGA-26-5135-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 2ce48f01-2f61-49d9-a56a-7438bf4a37d7 8f36ad24-c425-4474-9d03-a5198e2e4901 g.chr19:57765629A>C uc010ygt.1 + 4 1649 c.1442A>C c.(1441-1443)AAG>ACG p.K481T ZNF805_uc010ygu.1_Missense_Mutation_p.K348T NM_001023563 NP_001018857 Q5CZA5 ZN805_HUMAN zinc finger protein 805 isoform 1 481 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 ACTGGAGAGAAGCCCTATGAG 0.527 C2orf70 339778 broad.mit.edu 37 2 26798883 26798883 + Missense_Mutation SNP C T T TCGA-26-5135-01A-01D-1486-08 TCGA-26-5135-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 2ce48f01-2f61-49d9-a56a-7438bf4a37d7 8f36ad24-c425-4474-9d03-a5198e2e4901 g.chr2:26798883C>T uc010eyn.2 + 2 188 c.188C>T c.(187-189)CCC>CTC p.P63L NM_001105519 NP_001098989 A6NJV1 CB070_HUMAN hypothetical protein LOC339778 63 skin(1) 1 AGCCACACTCCCTTCAGCCAA 0.637 VAMP5 10791 broad.mit.edu 37 2 85818867 85818867 + Missense_Mutation SNP G A A TCGA-26-5135-01A-01D-1486-08 TCGA-26-5135-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 2ce48f01-2f61-49d9-a56a-7438bf4a37d7 8f36ad24-c425-4474-9d03-a5198e2e4901 g.chr2:85818867G>A uc002spu.1 + 2 106 c.23G>A c.(22-24)CGG>CAG p.R8Q NM_006634 NP_006625 O95183 VAMP5_HUMAN vesicle-associated membrane protein 5 8 v-SNARE coiled-coil homology.|Cytoplasmic (Potential). cell differentiation|vesicle-mediated transport endomembrane system 0 GAGTTGGAGCGGTGCCAGCAG 0.602 SEMA4C 54910 broad.mit.edu 37 2 97533539 97533539 + Missense_Mutation SNP G A A TCGA-26-5135-01A-01D-1486-08 TCGA-26-5135-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 2ce48f01-2f61-49d9-a56a-7438bf4a37d7 8f36ad24-c425-4474-9d03-a5198e2e4901 g.chr2:97533539G>A uc002sxh.3 - 2 245 c.85C>T c.(85-87)CCG>TCG p.P29S SEMA4C_uc002sxg.3_5'Flank NM_017789 NP_060259 Q9C0C4 SEM4C_HUMAN semaphorin 4C precursor 29 Extracellular (Potential). muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane receptor activity skin(2) 2 GTCTTACGCGGCACAAGGTTC 0.642 GGTLC1 92086 broad.mit.edu 37 20 23967182 23967182 + Missense_Mutation SNP A G G TCGA-26-5135-01A-01D-1486-08 TCGA-26-5135-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 2ce48f01-2f61-49d9-a56a-7438bf4a37d7 8f36ad24-c425-4474-9d03-a5198e2e4901 g.chr20:23967182A>G uc002wts.2 - 2 200 c.67T>C c.(67-69)TCC>CCC p.S23P GGTLC1_uc002wtu.2_Missense_Mutation_p.S23P NM_178312 NP_842564 Q9BX51 GGTL1_HUMAN gamma-glutamyltransferase light chain 1 23 gamma-glutamyltransferase activity ovary(1) 1 TTGTAGTAGGAGATCGGGTGA 0.632 MATN4 8785 broad.mit.edu 37 20 43922452 43922452 + Silent SNP C T T TCGA-26-5135-01A-01D-1486-08 TCGA-26-5135-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 2ce48f01-2f61-49d9-a56a-7438bf4a37d7 8f36ad24-c425-4474-9d03-a5198e2e4901 g.chr20:43922452C>T uc002xnn.2 - 10 1888 c.1701G>A c.(1699-1701)ACG>ACA p.T567T MATN4_uc002xno.2_Silent_p.T526T|MATN4_uc002xnp.2_Silent_p.T485T NM_003833 NP_003824 O95460 MATN4_HUMAN matrilin 4 isoform 1 precursor 608 Potential. extracellular region protein binding 0 Myeloproliferative disorder(115;0.0122) CCAGGCGCGCCGTCAGCTGGG 0.687 FAM65C 140876 broad.mit.edu 37 20 49232571 49232571 + Missense_Mutation SNP G A A rs147229572 TCGA-26-5135-01A-01D-1486-08 TCGA-26-5135-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 2ce48f01-2f61-49d9-a56a-7438bf4a37d7 8f36ad24-c425-4474-9d03-a5198e2e4901 g.chr20:49232571G>A uc002xvm.2 - 4 622 c.304C>T c.(304-306)CGC>TGC p.R102C FAM65C_uc010zyt.1_Missense_Mutation_p.R106C|FAM65C_uc010zyu.1_RNA|FAM65C_uc002xvn.1_Missense_Mutation_p.R102C|MIR1302-5_hsa-mir-1302-5|MI0006366_5'Flank NM_080829 NP_543019 Q96MK2 FA65C_HUMAN hypothetical protein LOC140876 102 ovary(2) 2 TCTTTGTGGCGTCCAGACAGG 0.542 PMEPA1 56937 broad.mit.edu 37 20 56284593 56284595 + In_Frame_Del DEL CGG - - TCGA-26-5135-01A-01D-1486-08 TCGA-26-5135-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 2ce48f01-2f61-49d9-a56a-7438bf4a37d7 8f36ad24-c425-4474-9d03-a5198e2e4901 g.chr20:56284593_56284595delCGG uc002xyq.2 - 1 437_439 c.44_46delCCG c.(43-48)GCCGGG>GGG p.A15del PMEPA1_uc002xyr.2_Intron|PMEPA1_uc002xys.2_Intron|PMEPA1_uc002xyt.2_Intron|uc002xyu.1_5'Flank NM_020182 NP_064567 Q969W9 PMEPA_HUMAN transmembrane prostate androgen-induced protein 15 Extracellular (Potential). androgen receptor signaling pathway integral to membrane|plasma membrane WW domain binding pancreas(1) 1 TTGGGCTgcccggcggcggcggc 0.369 TAF4 6874 broad.mit.edu 37 20 60572701 60572706 + In_Frame_Del DEL TTTGTG - - TCGA-26-5135-01A-01D-1486-08 TCGA-26-5135-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 2ce48f01-2f61-49d9-a56a-7438bf4a37d7 8f36ad24-c425-4474-9d03-a5198e2e4901 g.chr20:60572701_60572706delTTTGTG uc002ybs.2 - 14 2990_2995 c.2990_2995delCACAAA c.(2989-2997)GCACAAATG>GTG p.997_999AQM>V NM_003185 NP_003176 O00268 TAF4_HUMAN TBP-associated factor 4 997_999 interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity ovary(2)|pancreas(1) 3 Breast(26;1e-08) BRCA - Breast invasive adenocarcinoma(19;3.1e-07) CGCTGTCTCATTTGTGCCAGTTCCTG 0.471 KRTAP10-6 386674 broad.mit.edu 37 21 46011400 46011400 + Silent SNP G A A TCGA-26-5135-01A-01D-1486-08 TCGA-26-5135-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 2ce48f01-2f61-49d9-a56a-7438bf4a37d7 8f36ad24-c425-4474-9d03-a5198e2e4901 g.chr21:46011400G>A uc002zfm.2 - 1 987 c.966C>T c.(964-966)TCC>TCT p.S322S C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198688 NP_941961 P60371 KR106_HUMAN keratin associated protein 10-6 322 29 X 5 AA repeats of C-C-X(3). keratin filament 0 AGGCACCACAGGAGGGGACGG 0.692 FYCO1 79443 broad.mit.edu 37 3 45996750 45996750 + Missense_Mutation SNP G A A rs140583635 TCGA-26-5135-01A-01D-1486-08 TCGA-26-5135-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 2ce48f01-2f61-49d9-a56a-7438bf4a37d7 8f36ad24-c425-4474-9d03-a5198e2e4901 g.chr3:45996750G>A uc003cpb.3 - 14 4141 c.3935C>T c.(3934-3936)GCG>GTG p.A1312V FYCO1_uc011bal.1_Missense_Mutation_p.A1312V NM_024513 NP_078789 Q9BQS8 FYCO1_HUMAN FYVE and coiled-coil domain containing 1 1312 transport integral to membrane metal ion binding|protein binding central_nervous_system(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323) CTGTTCAGCCGCATTTGGGTC 0.498 PFKFB4 5210 broad.mit.edu 37 3 48563038 48563038 + Missense_Mutation SNP C T T TCGA-26-5135-01A-01D-1486-08 TCGA-26-5135-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 2ce48f01-2f61-49d9-a56a-7438bf4a37d7 8f36ad24-c425-4474-9d03-a5198e2e4901 g.chr3:48563038C>T uc003ctv.2 - 10 1069 c.1052G>A c.(1051-1053)CGG>CAG p.R351Q PFKFB4_uc003ctw.2_Missense_Mutation_p.R160Q|PFKFB4_uc010hkc.2_Intron|PFKFB4_uc003ctx.2_Missense_Mutation_p.R308Q|PFKFB4_uc010hkb.2_Missense_Mutation_p.R344Q|PFKFB4_uc011bbm.1_Missense_Mutation_p.R340Q|PFKFB4_uc011bbn.1_RNA NM_004567 NP_004558 Q16877 F264_HUMAN 6-phosphofructo-2-kinase/fructose-2, 351 Fructose-2,6-bisphosphatase. fructose 2,6-bisphosphate metabolic process|glycolysis cytosol 6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity breast(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684) GTCCTGGTCCCGCAGGGCGAA 0.562 NISCH 11188 broad.mit.edu 37 3 52521957 52521957 + Missense_Mutation SNP G A A TCGA-26-5135-01A-01D-1486-08 TCGA-26-5135-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 2ce48f01-2f61-49d9-a56a-7438bf4a37d7 8f36ad24-c425-4474-9d03-a5198e2e4901 g.chr3:52521957G>A uc011beg.1 + 17 2521 c.2449G>A c.(2449-2451)GCC>ACC p.A817T NISCH_uc003ded.3_Missense_Mutation_p.A817T|NISCH_uc003dee.3_Missense_Mutation_p.A306T|NISCH_uc003deg.1_RNA NM_007184 NP_009115 Q9Y2I1 NISCH_HUMAN nischarin 817 Interaction with LIMK (By similarity).|Interaction with PAK1 (By similarity). apoptosis|cell communication cytosol|early endosome|plasma membrane|recycling endosome phosphatidylinositol binding|receptor activity ovary(3)|central_nervous_system(1) 4 BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577) CCAGCACATGGCCATGCTGTG 0.622 ERC2 26059 broad.mit.edu 37 3 55733470 55733472 + In_Frame_Del DEL TGG - - TCGA-26-5135-01A-01D-1486-08 TCGA-26-5135-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 2ce48f01-2f61-49d9-a56a-7438bf4a37d7 8f36ad24-c425-4474-9d03-a5198e2e4901 g.chr3:55733470_55733472delTGG uc003dhr.1 - 16 3037_3039 c.2781_2783delCCA c.(2779-2784)CACCAT>CAT p.927_928HH>H ERC2_uc003dhq.1_RNA NM_015576 NP_056391 O15083 ERC2_HUMAN cytomatrix protein p110 927_928 Poly-His. cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding ovary(2) 2 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) gtggtggtgatggtggtggtggt 0.389 ADCY5 111 broad.mit.edu 37 3 123046533 123046533 + Missense_Mutation SNP C T T TCGA-26-5135-01A-01D-1486-08 TCGA-26-5135-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 2ce48f01-2f61-49d9-a56a-7438bf4a37d7 8f36ad24-c425-4474-9d03-a5198e2e4901 g.chr3:123046533C>T uc003egh.1 - 7 1879 c.1879G>A c.(1879-1881)GAG>AAG p.E627K ADCY5_uc003egg.1_Missense_Mutation_p.E260K|ADCY5_uc003egi.1_Missense_Mutation_p.E186K NM_183357 NP_899200 O95622 ADCY5_HUMAN adenylate cyclase 5 627 Cytoplasmic (Potential). activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding ovary(4) 4 GBM - Glioblastoma multiforme(114;0.0342) GCGTTGCGCTCGCCCCCACAG 0.642 RBP2 5948 broad.mit.edu 37 3 139195249 139195249 + Missense_Mutation SNP T C C TCGA-26-5135-01A-01D-1486-08 TCGA-26-5135-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 2ce48f01-2f61-49d9-a56a-7438bf4a37d7 8f36ad24-c425-4474-9d03-a5198e2e4901 g.chr3:139195249T>C uc003eth.2 - 1 104 c.53A>G c.(52-54)GAG>GGG p.E18G NM_004164 NP_004155 P50120 RET2_HUMAN retinol binding protein 2, cellular 18 epidermis development|retinoid metabolic process|steroid metabolic process|vitamin A metabolic process cytosol retinal binding|retinol binding|transporter activity skin(1) 1 Vitamin A(DB00162) CATGTAGCCCTCAAAGTTTTC 0.542 PSMD2 5708 broad.mit.edu 37 3 184021749 184021749 + Silent SNP T C C TCGA-26-5135-01A-01D-1486-08 TCGA-26-5135-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 2ce48f01-2f61-49d9-a56a-7438bf4a37d7 8f36ad24-c425-4474-9d03-a5198e2e4901 g.chr3:184021749T>C uc003fnn.1 + 11 1371 c.1338T>C c.(1336-1338)CTT>CTC p.L446L PSMD2_uc011brj.1_Silent_p.L287L|PSMD2_uc011brk.1_Silent_p.L316L NM_002808 NP_002799 Q13200 PSMD2_HUMAN proteasome 26S non-ATPase subunit 2 446 PC 2. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction proteasome regulatory particle enzyme regulator activity|protein binding 0 all_cancers(143;1.54e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) Bortezomib(DB00188) GAGCTCTTCTTGCCTGTGGCA 0.512 LRRC15 131578 broad.mit.edu 37 3 194080518 194080518 + Missense_Mutation SNP G A A TCGA-26-5135-01A-01D-1486-08 TCGA-26-5135-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 2ce48f01-2f61-49d9-a56a-7438bf4a37d7 8f36ad24-c425-4474-9d03-a5198e2e4901 g.chr3:194080518G>A uc003ftu.2 - 2 1341 c.1255C>T c.(1255-1257)CGG>TGG p.R419W LRRC15_uc003ftt.2_Missense_Mutation_p.R425W NM_130830 NP_570843 Q8TF66 LRC15_HUMAN leucine rich repeat containing 15 isoform b 419 Extracellular (Potential). integral to membrane ovary(3) 3 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.94e-05) TCATACAGCCGCAGCTCACAC 0.577 ADD1 118 broad.mit.edu 37 4 2930135 2930135 + Missense_Mutation SNP G A A TCGA-26-5135-01A-01D-1486-08 TCGA-26-5135-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 2ce48f01-2f61-49d9-a56a-7438bf4a37d7 8f36ad24-c425-4474-9d03-a5198e2e4901 g.chr4:2930135G>A uc003gfr.2 + 15 2287 c.2099G>A c.(2098-2100)GGG>GAG p.G700E ADD1_uc003gfn.2_RNA|ADD1_uc003gfo.2_3'UTR|ADD1_uc003gfp.2_3'UTR|ADD1_uc003gfq.2_Missense_Mutation_p.G731E|ADD1_uc003gfs.2_3'UTR NM_001119 NP_001110 P35611 ADDA_HUMAN adducin 1 (alpha) isoform a 700 actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding cytosol|F-actin capping protein complex|nucleus|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) GTCGAGGAGGGGGCCGCCGCG 0.662 RXFP1 59350 broad.mit.edu 37 4 159538309 159538309 + Missense_Mutation SNP G A A TCGA-26-5135-01A-01D-1486-08 TCGA-26-5135-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 2ce48f01-2f61-49d9-a56a-7438bf4a37d7 8f36ad24-c425-4474-9d03-a5198e2e4901 g.chr4:159538309G>A uc003ipz.2 + 9 789 c.707G>A c.(706-708)CGT>CAT p.R236H RXFP1_uc010iqj.1_Missense_Mutation_p.R65H|RXFP1_uc011cja.1_Missense_Mutation_p.R155H|RXFP1_uc010iqo.2_Missense_Mutation_p.R236H|RXFP1_uc011cjb.1_Missense_Mutation_p.R182H|RXFP1_uc010iqk.2_Missense_Mutation_p.R104H|RXFP1_uc011cjc.1_Missense_Mutation_p.R155H|RXFP1_uc011cjd.1_Missense_Mutation_p.R155H|RXFP1_uc010iql.2_Missense_Mutation_p.R104H|RXFP1_uc011cje.1_Missense_Mutation_p.R263H|RXFP1_uc010iqm.2_Missense_Mutation_p.R203H|RXFP1_uc011cjf.1_Missense_Mutation_p.R106H|RXFP1_uc010iqn.2_Missense_Mutation_p.R182H NM_021634 NP_067647 Q9HBX9 RXFP1_HUMAN relaxin/insulin-like family peptide receptor 1 236 Extracellular (Potential).|LRR 4. integral to membrane|plasma membrane G-protein coupled receptor activity|metal ion binding 0 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.0219) GTCCTCACCCGTTTACCTGAT 0.363 ODZ3 55714 broad.mit.edu 37 4 183713542 183713542 + Missense_Mutation SNP G A A TCGA-26-5135-01A-01D-1486-08 TCGA-26-5135-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 2ce48f01-2f61-49d9-a56a-7438bf4a37d7 8f36ad24-c425-4474-9d03-a5198e2e4901 g.chr4:183713542G>A uc003ivd.1 + 25 5754 c.5717G>A c.(5716-5718)CGA>CAA p.R1906Q NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN odz, odd Oz/ten-m homolog 3 1906 Extracellular (Potential). signal transduction integral to membrane 0 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) CAGACCATCCGATCCATTGGC 0.542 SLC6A19 340024 broad.mit.edu 37 5 1216784 1216784 + Silent SNP C T T TCGA-26-5135-01A-01D-1486-08 TCGA-26-5135-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 2ce48f01-2f61-49d9-a56a-7438bf4a37d7 8f36ad24-c425-4474-9d03-a5198e2e4901 g.chr5:1216784C>T uc003jbw.3 + 7 1055 c.999C>T c.(997-999)TAC>TAT p.Y333Y NM_001003841 NP_001003841 Q695T7 S6A19_HUMAN solute carrier family 6, member 19 333 Extracellular (Potential). cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity 0 all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10) Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) CACAGCGCTACGACGACTGCT 0.617 UGT3A1 133688 broad.mit.edu 37 5 35955903 35955903 + Missense_Mutation SNP C T T TCGA-26-5135-01A-01D-1486-08 TCGA-26-5135-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 2ce48f01-2f61-49d9-a56a-7438bf4a37d7 8f36ad24-c425-4474-9d03-a5198e2e4901 g.chr5:35955903C>T uc003jjv.1 - 6 1296 c.1139G>A c.(1138-1140)CGT>CAT p.R380H UGT3A1_uc003jjw.1_RNA|UGT3A1_uc011coq.1_Missense_Mutation_p.R380H|UGT3A1_uc011cor.1_Missense_Mutation_p.R346H NM_152404 NP_689617 Q6NUS8 UD3A1_HUMAN UDP glycosyltransferase 3 family, polypeptide A1 380 Extracellular (Potential). integral to membrane glucuronosyltransferase activity ovary(2)|central_nervous_system(1) 3 all_lung(31;0.000197) Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) CACACCATGACGGATGGCCTC 0.493 HCN1 348980 broad.mit.edu 37 5 45262136 45262136 + Nonsense_Mutation SNP G A A TCGA-26-5135-01A-01D-1486-08 TCGA-26-5135-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 2ce48f01-2f61-49d9-a56a-7438bf4a37d7 8f36ad24-c425-4474-9d03-a5198e2e4901 g.chr5:45262136G>A uc003jok.2 - 8 2585 c.2560C>T c.(2560-2562)CGA>TGA p.R854* NM_021072 NP_066550 O60741 HCN1_HUMAN hyperpolarization activated cyclic 854 Cytoplasmic (Potential). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1) 1 GGGACTCCTCGGTTCGGGGGG 0.632 HCN1 348980 broad.mit.edu 37 5 45353296 45353296 + Missense_Mutation SNP C T T TCGA-26-5135-01A-01D-1486-08 TCGA-26-5135-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 2ce48f01-2f61-49d9-a56a-7438bf4a37d7 8f36ad24-c425-4474-9d03-a5198e2e4901 g.chr5:45353296C>T uc003jok.2 - 5 1308 c.1283G>A c.(1282-1284)CGT>CAT p.R428H NM_021072 NP_066550 O60741 HCN1_HUMAN hyperpolarization activated cyclic 428 Cytoplasmic (Potential). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1) 1 TATCTTCTGACGCATATCAGC 0.338 PTCD2 79810 broad.mit.edu 37 5 71634538 71634538 + Silent SNP C T T TCGA-26-5135-01A-01D-1486-08 TCGA-26-5135-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 2ce48f01-2f61-49d9-a56a-7438bf4a37d7 8f36ad24-c425-4474-9d03-a5198e2e4901 g.chr5:71634538C>T uc003kcb.2 + 7 739 c.729C>T c.(727-729)TTC>TTT p.F243F PTCD2_uc011csf.1_Silent_p.F53F|PTCD2_uc003kcc.2_Silent_p.F91F|PTCD2_uc011csg.1_Silent_p.F71F|PTCD2_uc011csh.1_Silent_p.F134F|PTCD2_uc003kcd.2_RNA NM_024754 NP_079030 Q8WV60 PTCD2_HUMAN pentatricopeptide repeat domain 2 243 0 Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;1.73e-53) CATCCTGTTTCGCTGTGGCAT 0.423 FCHO2 115548 broad.mit.edu 37 5 72370577 72370577 + Missense_Mutation SNP C T T TCGA-26-5135-01A-01D-1486-08 TCGA-26-5135-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 2ce48f01-2f61-49d9-a56a-7438bf4a37d7 8f36ad24-c425-4474-9d03-a5198e2e4901 g.chr5:72370577C>T uc003kcl.2 + 20 1704 c.1588C>T c.(1588-1590)CGG>TGG p.R530W FCHO2_uc011csl.1_Missense_Mutation_p.R497W|FCHO2_uc010izb.2_Translation_Start_Site|FCHO2_uc011csn.1_Translation_Start_Site NM_138782 NP_620137 Q0JRZ9 FCHO2_HUMAN FCH domain only 2 isoform a 530 ovary(1) 1 Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165) OV - Ovarian serous cystadenocarcinoma(47;4.6e-53) AGGTGTGTCACGGGGTCCCAG 0.403 ARRDC3 57561 broad.mit.edu 37 5 90672545 90672545 + Missense_Mutation SNP G A A TCGA-26-5135-01A-01D-1486-08 TCGA-26-5135-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 2ce48f01-2f61-49d9-a56a-7438bf4a37d7 8f36ad24-c425-4474-9d03-a5198e2e4901 g.chr5:90672545G>A uc003kjz.2 - 3 643 c.403C>T c.(403-405)CGC>TGC p.R135C NM_020801 NP_065852 Q96B67 ARRD3_HUMAN arrestin domain containing 3 135 signal transduction cytoplasm protein binding ovary(1)|breast(1) 2 all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207) OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22) ACCCAATAGCGCACACTGCCA 0.398 SLIT3 6586 broad.mit.edu 37 5 168112721 168112721 + Missense_Mutation SNP C T T rs143177032 TCGA-26-5135-01A-01D-1486-08 TCGA-26-5135-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 2ce48f01-2f61-49d9-a56a-7438bf4a37d7 8f36ad24-c425-4474-9d03-a5198e2e4901 g.chr5:168112721C>T uc003mab.2 - 31 3946 c.3526G>A c.(3526-3528)GTC>ATC p.V1176I SLIT3_uc010jjg.2_Missense_Mutation_p.V1183I NM_003062 NP_003053 O75094 SLIT3_HUMAN slit homolog 3 precursor 1176 Laminin G-like. apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding ovary(3)|skin(1) 4 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TGGGGTCGGACCTTGGCGGAG 0.607 OR12D2 26529 broad.mit.edu 37 6 29364964 29364964 + Missense_Mutation SNP G A A TCGA-26-5135-01A-01D-1486-08 TCGA-26-5135-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 2ce48f01-2f61-49d9-a56a-7438bf4a37d7 8f36ad24-c425-4474-9d03-a5198e2e4901 g.chr6:29364964G>A uc003nmf.3 + 1 549 c.488G>A c.(487-489)CGC>CAC p.R163H NM_013936 NP_039224 P58182 O12D2_HUMAN olfactory receptor, family 12, subfamily D, 163 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 ATGACTTCTCGCTTGAACTTC 0.468 HLA-G 3135 broad.mit.edu 37 6 29797340 29797340 + Silent SNP G C C TCGA-26-5135-01A-01D-1486-08 TCGA-26-5135-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 2ce48f01-2f61-49d9-a56a-7438bf4a37d7 8f36ad24-c425-4474-9d03-a5198e2e4901 g.chr6:29797340G>C uc003nnw.2 + 5 943 c.765G>C c.(763-765)GTG>GTC p.V255V HLA-G_uc011dmb.1_Silent_p.V227V|HLA-G_uc003raj.3_Silent_p.V260V|HLA-G_uc003nnz.3_Silent_p.V163V|HLA-G_uc010jrn.2_Intron|HLA-G_uc003nny.3_RNA|HLA-G_uc003ran.1_5'Flank NM_002127 NP_002118 P17693 HLAG_HUMAN major histocompatibility complex, class I, G 255 Extracellular (Potential).|Ig-like C1-type.|Alpha-3. antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway integral to membrane|MHC class I protein complex MHC class I receptor activity ovary(3)|central_nervous_system(1) 4 TGGAGCTCGTGGAGACCAGGC 0.632 SKIV2L 6499 broad.mit.edu 37 6 31936703 31936703 + Missense_Mutation SNP G A A TCGA-26-5135-01A-01D-1486-08 TCGA-26-5135-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 2ce48f01-2f61-49d9-a56a-7438bf4a37d7 8f36ad24-c425-4474-9d03-a5198e2e4901 g.chr6:31936703G>A uc003nyn.1 + 26 3625 c.3236G>A c.(3235-3237)CGG>CAG p.R1079Q SKIV2L_uc011dou.1_Missense_Mutation_p.R921Q|SKIV2L_uc011dov.1_Missense_Mutation_p.R886Q|STK19_uc003nyt.2_5'Flank|STK19_uc011dow.1_5'Flank|STK19_uc011dox.1_5'Flank|STK19_uc003nyv.2_5'Flank|STK19_uc003nyw.2_5'Flank NM_006929 NP_008860 Q15477 SKIV2_HUMAN superkiller viralicidic activity 2-like homolog 1079 nucleus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1) 4 CTGGCAGGGCGGGTGGCTTGT 0.592 SFRS3 6428 broad.mit.edu 37 6 36564707 36564707 + Silent SNP C T T TCGA-26-5135-01A-01D-1486-08 TCGA-26-5135-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 2ce48f01-2f61-49d9-a56a-7438bf4a37d7 8f36ad24-c425-4474-9d03-a5198e2e4901 g.chr6:36564707C>T uc003omj.2 + 2 339 c.168C>T c.(166-168)CCC>CCT p.P56P SFRS3_uc003omk.2_RNA|SFRS3_uc011dtp.1_Silent_p.P56P NM_003017 NP_003008 P84103 SRSF3_HUMAN splicing factor, arginine/serine-rich 3 56 RRM. mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nucleoplasm nucleotide binding|protein binding|RNA binding 0 TTGAAGATCCCCGAGATGCAG 0.433 T BCL6 follicular lymphoma HMGCLL1 54511 broad.mit.edu 37 6 55360237 55360237 + Missense_Mutation SNP T C C TCGA-26-5135-01A-01D-1486-08 TCGA-26-5135-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 2ce48f01-2f61-49d9-a56a-7438bf4a37d7 8f36ad24-c425-4474-9d03-a5198e2e4901 g.chr6:55360237T>C uc003pcn.2 - 8 1024 c.865A>G c.(865-867)AAT>GAT p.N289D HMGCLL1_uc003pco.2_Missense_Mutation_p.N259D|HMGCLL1_uc010jzx.2_Missense_Mutation_p.N160D|HMGCLL1_uc011dxc.1_Missense_Mutation_p.N227D|HMGCLL1_uc011dxd.1_Missense_Mutation_p.N156D|HMGCLL1_uc011dxe.1_Intron NM_019036 NP_061909 Q8TB92 HMGC2_HUMAN 3-hydroxymethyl-3-methylglutaryl-Coenzyme A 289 hydroxymethylglutaryl-CoA lyase activity|metal ion binding skin(2)|ovary(1)|pancreas(1) 4 Lung NSC(77;0.0875) LUSC - Lung squamous cell carcinoma(124;0.23) GTAAGGATATTTGCTAAGGCT 0.398 TIAM2 26230 broad.mit.edu 37 6 155504465 155504465 + Missense_Mutation SNP C G G TCGA-26-5135-01A-01D-1486-08 TCGA-26-5135-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 2ce48f01-2f61-49d9-a56a-7438bf4a37d7 8f36ad24-c425-4474-9d03-a5198e2e4901 g.chr6:155504465C>G uc003qqb.2 + 16 4168 c.2895C>G c.(2893-2895)AGC>AGG p.S965R TIAM2_uc003qqe.2_Missense_Mutation_p.S965R|TIAM2_uc010kjj.2_Missense_Mutation_p.S498R|TIAM2_uc003qqf.2_Missense_Mutation_p.S341R|TIAM2_uc011efl.1_Missense_Mutation_p.S301R|TIAM2_uc003qqg.2_Missense_Mutation_p.S277R NM_012454 NP_036586 Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 965 PDZ. apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity ovary(3)|breast(1) 4 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) CTGAGAAGAGCGTCGGACTCA 0.527 TMEM195 392636 broad.mit.edu 37 7 15425167 15425167 + Silent SNP G A A TCGA-26-5135-01A-01D-1486-08 TCGA-26-5135-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 2ce48f01-2f61-49d9-a56a-7438bf4a37d7 8f36ad24-c425-4474-9d03-a5198e2e4901 g.chr7:15425167G>A uc003stb.1 - 10 1148 c.978C>T c.(976-978)CCC>CCT p.P326P NM_001004320 NP_001004320 Q6ZNB7 ALKMO_HUMAN transmembrane protein 195 326 ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process endoplasmic reticulum membrane|integral to membrane glyceryl-ether monooxygenase activity|iron ion binding 0 ATGATGAGAAGGGAACTTCTT 0.368 PIK3CG 5294 broad.mit.edu 37 7 106508579 106508579 + Silent SNP C T T rs145944814 TCGA-26-5135-01A-01D-1486-08 TCGA-26-5135-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 2ce48f01-2f61-49d9-a56a-7438bf4a37d7 8f36ad24-c425-4474-9d03-a5198e2e4901 g.chr7:106508579C>T uc003vdv.3 + 2 658 c.573C>T c.(571-573)CGC>CGT p.R191R PIK3CG_uc003vdu.2_Silent_p.R191R|PIK3CG_uc003vdw.2_Silent_p.R191R NM_002649 NP_002640 P48736 PK3CG_HUMAN phosphoinositide-3-kinase, catalytic, gamma 191 G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1) 38 TGGCCAGCCGCGACCCCAAGC 0.612 CTTNBP2 83992 broad.mit.edu 37 7 117368153 117368153 + Missense_Mutation SNP C A A TCGA-26-5135-01A-01D-1486-08 TCGA-26-5135-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 2ce48f01-2f61-49d9-a56a-7438bf4a37d7 8f36ad24-c425-4474-9d03-a5198e2e4901 g.chr7:117368153C>A uc003vjf.2 - 17 4137 c.4045G>T c.(4045-4047)GTG>TTG p.V1349L NM_033427 NP_219499 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 1349 ovary(4)|central_nervous_system(1) 5 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) TTCACTGTCACTTGGGCATGC 0.493 RNF133 168433 broad.mit.edu 37 7 122338662 122338662 + Missense_Mutation SNP A C C TCGA-26-5135-01A-01D-1486-08 TCGA-26-5135-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 2ce48f01-2f61-49d9-a56a-7438bf4a37d7 8f36ad24-c425-4474-9d03-a5198e2e4901 g.chr7:122338662A>C uc003vkj.1 - 1 547 c.311T>G c.(310-312)CTT>CGT p.L104R CADPS2_uc010lkp.2_Intron|CADPS2_uc010lkq.2_Intron NM_139175 NP_631914 Q8WVZ7 RN133_HUMAN ring finger protein 133 104 PA. endoplasmic reticulum membrane|integral to membrane ligase activity|zinc ion binding skin(1) 1 CCGTTCAATAAGTGCAAGCCA 0.458 GCC1 79571 broad.mit.edu 37 7 127222596 127222596 + Silent SNP G A A TCGA-26-5135-01A-01D-1486-08 TCGA-26-5135-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 2ce48f01-2f61-49d9-a56a-7438bf4a37d7 8f36ad24-c425-4474-9d03-a5198e2e4901 g.chr7:127222596G>A uc003vma.2 - 2 2218 c.1800C>T c.(1798-1800)GAC>GAT p.D600D NM_024523 NP_078799 Q96CN9 GCC1_HUMAN Golgi coiled-coil protein 1 600 Potential. Golgi membrane|plasma membrane protein binding ovary(2) 2 CCAGTTCCAAGTCCTTCTCGG 0.627 KEL 3792 broad.mit.edu 37 7 142643377 142643377 + Missense_Mutation SNP C T T TCGA-26-5135-01A-01D-1486-08 TCGA-26-5135-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 2ce48f01-2f61-49d9-a56a-7438bf4a37d7 8f36ad24-c425-4474-9d03-a5198e2e4901 g.chr7:142643377C>T uc003wcb.2 - 11 1441 c.1231G>A c.(1231-1233)GTG>ATG p.V411M NM_000420 NP_000411 P23276 KELL_HUMAN Kell blood group, metallo-endopeptidase 411 Extracellular (Potential). proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding ovary(3)|central_nervous_system(1) 4 Melanoma(164;0.059) GTCTCCTCCACGCACTTCATC 0.567 ADAM7 8756 broad.mit.edu 37 8 24324411 24324411 + Silent SNP G A A TCGA-26-5135-01A-01D-1486-08 TCGA-26-5135-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 2ce48f01-2f61-49d9-a56a-7438bf4a37d7 8f36ad24-c425-4474-9d03-a5198e2e4901 g.chr8:24324411G>A uc003xeb.2 + 6 602 c.489G>A c.(487-489)CCG>CCA p.P163P ADAM7_uc003xea.1_Silent_p.P163P NM_003817 NP_003808 Q9H2U9 ADAM7_HUMAN a disintegrin and metalloproteinase domain 7 163 Extracellular (Potential). proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding skin(3)|ovary(1)|kidney(1) 5 Prostate(55;0.0181) Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182) TGAGGGTGCCGTATGGTGCCA 0.388 SLCO5A1 81796 broad.mit.edu 37 8 70667740 70667740 + Missense_Mutation SNP C T T TCGA-26-5135-01A-01D-1486-08 TCGA-26-5135-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 2ce48f01-2f61-49d9-a56a-7438bf4a37d7 8f36ad24-c425-4474-9d03-a5198e2e4901 g.chr8:70667740C>T uc003xyl.2 - 4 1884 c.1177G>A c.(1177-1179)GAT>AAT p.D393N SLCO5A1_uc010lzb.2_Missense_Mutation_p.D393N|SLCO5A1_uc011lfa.1_Intron|SLCO5A1_uc003xyk.2_Missense_Mutation_p.D393N|SLCO5A1_uc010lzc.2_Missense_Mutation_p.D393N NM_030958 NP_112220 Q9H2Y9 SO5A1_HUMAN solute carrier organic anion transporter family, 393 Cytoplasmic (Potential). integral to membrane|plasma membrane transporter activity ovary(3)|upper_aerodigestive_tract(1) 4 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) TTCAGAACATCGTCATCACTA 0.363 MTSS1 9788 broad.mit.edu 37 8 125568545 125568545 + Silent SNP G A A TCGA-26-5135-01A-01D-1486-08 TCGA-26-5135-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 2ce48f01-2f61-49d9-a56a-7438bf4a37d7 8f36ad24-c425-4474-9d03-a5198e2e4901 g.chr8:125568545G>A uc003yrk.2 - 12 1866 c.1332C>T c.(1330-1332)ACC>ACT p.T444T NDUFB9_uc011lim.1_Intron|MTSS1_uc003yrh.2_5'UTR|MTSS1_uc011lin.1_Silent_p.T218T|MTSS1_uc011lio.1_Silent_p.T334T|MTSS1_uc003yri.2_Silent_p.T162T|MTSS1_uc003yrj.2_Silent_p.T419T|MTSS1_uc003yrl.2_Silent_p.T448T NM_014751 NP_055566 O43312 MTSS1_HUMAN metastasis suppressor 1 444 actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway actin cytoskeleton|endocytic vesicle|ruffle actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding ovary(1) 1 Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) GGCCGCTGGCGGTAGTGGGTC 0.627 CEL 1056 broad.mit.edu 37 9 135946656 135946656 + Silent SNP G C C TCGA-26-5135-01A-01D-1486-08 TCGA-26-5135-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 2ce48f01-2f61-49d9-a56a-7438bf4a37d7 8f36ad24-c425-4474-9d03-a5198e2e4901 g.chr9:135946656G>C uc010naa.1 + 11 1792 c.1776G>C c.(1774-1776)GGG>GGC p.G592G NM_001807 NP_001798 P19835 CEL_HUMAN carboxyl ester lipase precursor 589 3.|17 X 11 AA tandem repeats, glycodomain, O-linked (mucin type). cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification cytosol|extracellular space acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity pancreas(1) 1 OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196) GTGACTCCGGGGCCCCCCCCG 0.811 RPL7A 6130 broad.mit.edu 37 9 136217156 136217156 + Silent SNP C T T rs142456845 by1000genomes TCGA-26-5135-01A-01D-1486-08 TCGA-26-5135-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 2ce48f01-2f61-49d9-a56a-7438bf4a37d7 8f36ad24-c425-4474-9d03-a5198e2e4901 g.chr9:136217156C>T uc004cde.1 + 5 507 c.477C>T c.(475-477)CAC>CAT p.H159H MED22_uc004cdc.2_5'Flank|MED22_uc004cdd.2_5'Flank|RPL7A_uc004cdf.1_Translation_Start_Site|SNORD36A_uc010naj.2_5'Flank|SNORD36C_uc010nak.2_5'Flank NM_000972 NP_000963 P62424 RL7A_HUMAN ribosomal protein L7a 159 endocrine pancreas development|ribosome biogenesis|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|membrane fraction|polysomal ribosome RNA binding|structural constituent of ribosome 0 OV - Ovarian serous cystadenocarcinoma(145;4.93e-07)|Epithelial(140;4.09e-06)|all cancers(34;3.78e-05) TGATTGCACACGACGTGGATC 0.522