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 MTHFR 4524 broad.mit.edu 37 1 11861224 11861224 + Missense_Mutation SNP G G A TCGA-BR-6564-01A-12D-1882-08 TCGA-BR-6564-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e66eb75-097c-4ad8-b2b3-9f5849dfd02f 32051bbc-4e2d-46f1-8495-b126556ab3bd g.chr1:11861224G>A uc001atc.1 - 3 653 c.469C>T c.(469-471)CGG>TGG p.R157W MTHFR_uc001atb.1_Missense_Mutation_p.R180W NM_005957 NP_005948 P42898 MTHR_HUMAN 5,10-methylenetetrahydrofolate reductase 157 R -> Q (in MTHFRD). blood circulation|folic acid metabolic process cytosol methylenetetrahydrofolate reductase (NADPH) activity|protein binding 0 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649) Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116) ACACCTCCCCGCAGCGCCATG 0.587000 LHX8 431707 broad.mit.edu 37 1 75602794 75602794 + Missense_Mutation SNP G G A TCGA-BR-6564-01A-12D-1882-08 TCGA-BR-6564-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e66eb75-097c-4ad8-b2b3-9f5849dfd02f 32051bbc-4e2d-46f1-8495-b126556ab3bd g.chr1:75602794G>A uc001dgo.2 + 4 779 c.115G>A c.(115-117)GAG>AAG p.E39K LHX8_uc001dgq.2_5'UTR NM_001001933 NP_001001933 Q68G74 LHX8_HUMAN LIM homeobox 8 39 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3) 3 GGTGAGCCCCGAGGGAGCGGG 0.731000 CD101 9398 broad.mit.edu 37 1 117554317 117554317 + Silent SNP A A G TCGA-BR-6564-01A-12D-1882-08 TCGA-BR-6564-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e66eb75-097c-4ad8-b2b3-9f5849dfd02f 32051bbc-4e2d-46f1-8495-b126556ab3bd g.chr1:117554317A>G uc010oxb.1 + 3 628 c.570A>G c.(568-570)GGA>GGG p.G190G CD101_uc009whd.2_Silent_p.G190G|CD101_uc010oxc.1_Silent_p.G190G|CD101_uc010oxd.1_Intron NM_004258 NP_004249 Q93033 IGSF2_HUMAN immunoglobulin superfamily, member 2 precursor 190 Extracellular (Potential).|Ig-like C2-type 2. cell surface receptor linked signaling pathway integral to membrane|plasma membrane hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides skin(2)|upper_aerodigestive_tract(1)|ovary(1) 4 CACAGGATGGAGGAGGAAGCC 0.512000 FLG 2312 broad.mit.edu 37 1 152283625 152283625 + Missense_Mutation SNP C C A TCGA-BR-6564-01A-12D-1882-08 TCGA-BR-6564-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e66eb75-097c-4ad8-b2b3-9f5849dfd02f 32051bbc-4e2d-46f1-8495-b126556ab3bd g.chr1:152283625C>A uc001ezu.1 - 3 3773 c.3737G>T c.(3736-3738)AGC>ATC p.S1246I uc001ezv.2_5'Flank NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 1246 Ser-rich.|Filaggrin 7. 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) GTGTCTAGAGCTGTCAGCCCA 0.552000 Ichthyosis MUC1 4582 broad.mit.edu 37 1 155160774 155160774 + Missense_Mutation SNP G G T TCGA-BR-6564-01A-12D-1882-08 TCGA-BR-6564-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e66eb75-097c-4ad8-b2b3-9f5849dfd02f 32051bbc-4e2d-46f1-8495-b126556ab3bd g.chr1:155160774G>T uc010pfj.1 - 2 784 c.378C>A c.(376-378)AGC>AGA p.S126R RAG1AP1_uc010pey.1_Intron|MUC1_uc001fhy.2_5'UTR|MUC1_uc001fhz.2_5'UTR|MUC1_uc010pfb.1_Intron|MUC1_uc010pfc.1_Intron|MUC1_uc009wph.2_Intron|MUC1_uc010pfd.1_Intron|MUC1_uc010pfe.1_Intron|MUC1_uc010pff.1_Intron|MUC1_uc009wpi.2_Intron|MUC1_uc010pfg.1_Intron|MUC1_uc010pfh.1_Silent_p.L102L|MUC1_uc010pfi.1_Silent_p.L102L|MUC1_uc010pfk.1_Intron|MUC1_uc010pfl.1_Intron|MUC1_uc001fin.2_Intron|MUC1_uc009wpk.2_Intron|MUC1_uc001fip.2_Intron|MUC1_uc009wqg.2_Intron|MUC1_uc009wpo.2_Intron|MUC1_uc009wps.2_Intron|MUC1_uc009wpt.2_Intron|MUC1_uc001fic.2_Intron|MUC1_uc009wpu.2_Intron|MUC1_uc009wpq.2_Intron|MUC1_uc009wpv.2_Intron|MUC1_uc001fim.2_Intron|MUC1_uc001fib.2_Intron|MUC1_uc009wpw.2_Intron|MUC1_uc001fie.2_Intron|MUC1_uc009wpr.2_Intron|MUC1_uc001fig.2_Intron|MUC1_uc001fif.2_Intron|MUC1_uc009wpx.2_Intron|MUC1_uc001fid.2_Intron|MUC1_uc009wpj.2_Intron|MUC1_uc001fij.2_Intron|MUC1_uc009wpy.2_Intron|MUC1_uc010pfm.1_Intron|MUC1_uc001fiq.2_Intron|MUC1_uc009wpz.2_Intron|MUC1_uc010pfn.1_Intron|MUC1_uc009wqa.2_Missense_Mutation_p.S114R|MUC1_uc010pfo.1_Intron|MUC1_uc010pfp.1_Intron|MUC1_uc001fii.2_Intron|MUC1_uc001fih.2_Intron|MUC1_uc001fia.2_Intron|MUC1_uc009wqc.2_Silent_p.L28L|MUC1_uc009wqd.2_Missense_Mutation_p.S52R|MUC1_uc009wqb.2_Intron|MUC1_uc010pfq.1_Silent_p.L28L|MUC1_uc010pfr.1_Intron|MUC1_uc001fit.2_Intron|MUC1_uc009wqe.2_Intron|MUC1_uc001fil.2_Intron|MUC1_uc009wpm.2_Intron|MUC1_uc009wpp.2_Intron|MUC1_uc010pfs.1_Intron|MUC1_uc001fik.2_Intron|MUC1_uc001fio.2_Intron|MUC1_uc009wqf.2_Intron|MUC1_uc009wpl.2_Intron|MUC1_uc009wpn.2_Intron|MUC1_uc001fis.1_Intron P15941 MUC1_HUMAN SubName: Full=Mucin 1, cell surface associated; 1031 Extracellular (Potential). apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus protein binding large_intestine(1)|pancreas(1)|breast(1)|skin(1) 4 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) GGGGAGAAGTGCTGTGATTGG 0.498000 T IGH@ B-NHL OR6N1 128372 broad.mit.edu 37 1 158735950 158735950 + Missense_Mutation SNP G G C TCGA-BR-6564-01A-12D-1882-08 TCGA-BR-6564-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e66eb75-097c-4ad8-b2b3-9f5849dfd02f 32051bbc-4e2d-46f1-8495-b126556ab3bd g.chr1:158735950G>C uc010piq.1 - 1 523 c.523C>G c.(523-525)CAG>GAG p.Q175E NM_001005185 NP_001005185 Q8NGY5 OR6N1_HUMAN olfactory receptor, family 6, subfamily N, 175 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_hematologic(112;0.0378) AAGACGTGCTGAATGCGATTG 0.468000 ATRNL1 26033 broad.mit.edu 37 10 117061471 117061471 + Silent SNP G G A TCGA-BR-6564-01A-12D-1882-08 TCGA-BR-6564-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e66eb75-097c-4ad8-b2b3-9f5849dfd02f 32051bbc-4e2d-46f1-8495-b126556ab3bd g.chr10:117061471G>A uc001lcg.2 + 17 3122 c.2736G>A c.(2734-2736)ACG>ACA p.T912T ATRNL1_uc010qsm.1_Silent_p.T87T|ATRNL1_uc010qsn.1_RNA NM_207303 NP_997186 Q5VV63 ATRN1_HUMAN attractin-like 1 precursor 912 PSI 4.|Extracellular (Potential). integral to membrane sugar binding ovary(5)|lung(1)|central_nervous_system(1) 7 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) GCAGCAGTACGAAACGATGTG 0.448000 MRGPRX2 117194 broad.mit.edu 37 11 19077900 19077900 + Missense_Mutation SNP C C T TCGA-BR-6564-01A-12D-1882-08 TCGA-BR-6564-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e66eb75-097c-4ad8-b2b3-9f5849dfd02f 32051bbc-4e2d-46f1-8495-b126556ab3bd g.chr11:19077900C>T uc001mph.2 - 2 138 c.50G>A c.(49-51)GGA>GAA p.G17E NM_054030 NP_473371 Q96LB1 MRGX2_HUMAN MAS-related GPR, member X2 17 Extracellular (Potential). sensory perception of pain|sleep plasma membrane G-protein coupled receptor activity|neuropeptide binding ovary(1) 1 TTGGTCATTTCCATTCACTGT 0.522000 PDHX 8050 broad.mit.edu 37 11 35006231 35006231 + Missense_Mutation SNP G G C TCGA-BR-6564-01A-12D-1882-08 TCGA-BR-6564-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e66eb75-097c-4ad8-b2b3-9f5849dfd02f 32051bbc-4e2d-46f1-8495-b126556ab3bd g.chr11:35006231G>C uc001mvt.2 + 9 1664 c.1138G>C c.(1138-1140)GAT>CAT p.D380H PDHX_uc010rep.1_Missense_Mutation_p.D365H|PDHX_uc010req.1_Missense_Mutation_p.D153H NM_003477 NP_003468 O00330 ODPX_HUMAN pyruvate dehydrogenase complex, component X 380 pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix acyltransferase activity kidney(1) 1 all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242) all_hematologic(20;0.124) STAD - Stomach adenocarcinoma(6;0.00113) AATCATAAAAGATGCTGCTGC 0.388000 MRPL21 219927 broad.mit.edu 37 11 68665460 68665460 + Missense_Mutation SNP A A G TCGA-BR-6564-01A-12D-1882-08 TCGA-BR-6564-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e66eb75-097c-4ad8-b2b3-9f5849dfd02f 32051bbc-4e2d-46f1-8495-b126556ab3bd g.chr11:68665460A>G uc001ooi.2 - 3 192 c.167T>C c.(166-168)CTG>CCG p.L56P MRPL21_uc001ooh.2_5'UTR|MRPL21_uc010rqe.1_Missense_Mutation_p.L56P NM_181514 NP_852615 Q7Z2W9 RM21_HUMAN mitochondrial ribosomal protein L21 isoform d 56 translation mitochondrion|ribosome RNA binding|structural constituent of ribosome 0 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) TGGTGAACTCAGGGATGTTTT 0.478000 PDE2A 5138 broad.mit.edu 37 11 72288493 72288493 + Missense_Mutation SNP C C T TCGA-BR-6564-01A-12D-1882-08 TCGA-BR-6564-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e66eb75-097c-4ad8-b2b3-9f5849dfd02f 32051bbc-4e2d-46f1-8495-b126556ab3bd g.chr11:72288493C>T uc010rrc.1 - 31 3004 c.2761G>A c.(2761-2763)GAG>AAG p.E921K PDE2A_uc001oso.2_Missense_Mutation_p.E900K|PDE2A_uc010rra.1_Missense_Mutation_p.E914K|PDE2A_uc001osn.2_Missense_Mutation_p.E665K|PDE2A_uc010rrb.1_Missense_Mutation_p.E912K|PDE2A_uc010rrd.1_Missense_Mutation_p.E806K NM_002599 NP_002590 O00408 PDE2A_HUMAN phosphodiesterase 2A isoform 1 921 platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding ovary(2)|breast(1)|skin(1) 4 BRCA - Breast invasive adenocarcinoma(5;3.55e-05) Sildenafil(DB00203)|Sulindac(DB00605) TCAGGCACCTCGTACTCCTCA 0.607000 NECAP1 25977 broad.mit.edu 37 12 8242546 8242546 + Missense_Mutation SNP A A T TCGA-BR-6564-01A-12D-1882-08 TCGA-BR-6564-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e66eb75-097c-4ad8-b2b3-9f5849dfd02f 32051bbc-4e2d-46f1-8495-b126556ab3bd g.chr12:8242546A>T uc001qtx.2 + 2 188 c.110A>T c.(109-111)AAA>ATA p.K37I NECAP1_uc001qty.2_5'UTR NM_015509 NP_056324 Q8NC96 NECP1_HUMAN NECAP endocytosis associated 1 37 endocytosis|protein transport clathrin coated vesicle membrane|plasma membrane ovary(1) 1 Kidney(36;0.0915) TCTGACTGGAAATTAGACCAG 0.463000 SLC38A4 55089 broad.mit.edu 37 12 47172329 47172329 + Silent SNP A A G TCGA-BR-6564-01A-12D-1882-08 TCGA-BR-6564-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e66eb75-097c-4ad8-b2b3-9f5849dfd02f 32051bbc-4e2d-46f1-8495-b126556ab3bd g.chr12:47172329A>G uc001rpi.2 - 11 1347 c.948T>C c.(946-948)CAT>CAC p.H316H SLC38A4_uc001rpj.2_Silent_p.H316H NM_018018 NP_060488 Q969I6 S38A4_HUMAN solute carrier family 38, member 4 316 Extracellular (Potential). cellular nitrogen compound metabolic process|sodium ion transport integral to membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity ovary(2)|central_nervous_system(1)|skin(1) 4 Lung SC(27;0.192)|Renal(347;0.236) TGTCATCACTATGAGCTTCAT 0.453000 ZCCHC8 55596 broad.mit.edu 37 12 122967235 122967235 + Missense_Mutation SNP G G A TCGA-BR-6564-01A-12D-1882-08 TCGA-BR-6564-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e66eb75-097c-4ad8-b2b3-9f5849dfd02f 32051bbc-4e2d-46f1-8495-b126556ab3bd g.chr12:122967235G>A uc001ucn.2 - 8 810 c.679C>T c.(679-681)CCT>TCT p.P227S ZCCHC8_uc001ucm.2_5'UTR|ZCCHC8_uc009zxp.2_5'UTR|ZCCHC8_uc009zxq.2_5'UTR NM_017612 NP_060082 Q6NZY4 ZCHC8_HUMAN zinc finger, CCHC domain containing 8 227 CCHC-type. catalytic step 2 spliceosome nucleic acid binding|protein binding|zinc ion binding 0 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202) AAACAGTGAGGCTTTGGCCTA 0.308000 ZNF75A 7627 broad.mit.edu 37 16 3367328 3367328 + Missense_Mutation SNP T T G TCGA-BR-6564-01A-12D-1882-08 TCGA-BR-6564-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e66eb75-097c-4ad8-b2b3-9f5849dfd02f 32051bbc-4e2d-46f1-8495-b126556ab3bd g.chr16:3367328T>G uc002cut.3 + 6 876 c.350T>G c.(349-351)TTT>TGT p.F117C ZNF75A_uc002cuv.3_RNA NM_153028 NP_694573 Q96N20 ZN75A_HUMAN zinc finger protein 75a 117 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1) 1 GAAAATCATTTTGATATGCAC 0.393000 NDE1 54820 broad.mit.edu 37 16 15790648 15790648 + Missense_Mutation SNP G G A TCGA-BR-6564-01A-12D-1882-08 TCGA-BR-6564-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e66eb75-097c-4ad8-b2b3-9f5849dfd02f 32051bbc-4e2d-46f1-8495-b126556ab3bd g.chr16:15790648G>A uc002ddt.1 + 7 921 c.878G>A c.(877-879)CGG>CAG p.R293Q NDE1_uc010uzy.1_Missense_Mutation_p.R293Q|NDE1_uc002dds.2_Missense_Mutation_p.R293Q NM_017668 NP_060138 Q9NXR1 NDE1_HUMAN nuclear distribution gene E homolog 1 293 cell differentiation|cell division|centrosome duplication|establishment of chromosome localization|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|mitotic prometaphase|nervous system development cleavage furrow|condensed chromosome kinetochore|cytosol|microtubule|spindle pole centrosome microtubule binding ovary(1) 1 GCCTCTGGGCGGAGCAGCAAG 0.577000 PAPD5 64282 broad.mit.edu 37 16 50258847 50258847 + Silent SNP T T C TCGA-BR-6564-01A-12D-1882-08 TCGA-BR-6564-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e66eb75-097c-4ad8-b2b3-9f5849dfd02f 32051bbc-4e2d-46f1-8495-b126556ab3bd g.chr16:50258847T>C uc010vgo.1 + 10 1544 c.1509T>C c.(1507-1509)TAT>TAC p.Y503Y PAPD5_uc010cbi.2_RNA|PAPD5_uc002efz.2_Silent_p.Y294Y|PAPD5_uc002ega.2_Silent_p.Y294Y NM_001040284 NP_001035374 Q8NDF8 PAPD5_HUMAN PAP associated domain containing 5 isoform a 424 cell division|DNA replication|histone mRNA catabolic process|mitosis cytoplasm|nucleus DNA binding|DNA-directed DNA polymerase activity|metal ion binding 0 all_cancers(37;0.0452) BRCA - Breast invasive adenocarcinoma(181;0.0843)|GBM - Glioblastoma multiforme(240;0.231) TTGCCACATATAGAGATTGGA 0.378000 PDP2 57546 broad.mit.edu 37 16 66918510 66918510 + Missense_Mutation SNP G G A TCGA-BR-6564-01A-12D-1882-08 TCGA-BR-6564-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e66eb75-097c-4ad8-b2b3-9f5849dfd02f 32051bbc-4e2d-46f1-8495-b126556ab3bd g.chr16:66918510G>A uc002eqk.1 + 2 485 c.323G>A c.(322-324)CGG>CAG p.R108Q NM_020786 NP_065837 Q9P2J9 PDP2_HUMAN pyruvate dehydrogenase phosphatase isoenzyme 2 108 pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix|protein serine/threonine phosphatase complex [pyruvate dehydrogenase (lipoamide)] phosphatase activity|metal ion binding ovary(1) 1 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204) TCAGTGTTGCGGTTTGAGAGC 0.522000 ELAC2 60528 broad.mit.edu 37 17 12903546 12903546 + Silent SNP C C T TCGA-BR-6564-01A-12D-1882-08 TCGA-BR-6564-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e66eb75-097c-4ad8-b2b3-9f5849dfd02f 32051bbc-4e2d-46f1-8495-b126556ab3bd g.chr17:12903546C>T uc002gnz.3 - 15 1445 c.1350G>A c.(1348-1350)GCG>GCA p.A450A ELAC2_uc002gnu.3_5'UTR|ELAC2_uc002gnv.3_Silent_p.A78A|ELAC2_uc002gnw.3_Silent_p.A108A|ELAC2_uc002gnx.3_Silent_p.A210A|ELAC2_uc010vvo.1_Silent_p.A248A|ELAC2_uc010vvp.1_Silent_p.A431A|ELAC2_uc010vvq.1_Silent_p.A449A|ELAC2_uc010vvr.1_Silent_p.A410A NM_018127 NP_060597 Q9BQ52 RNZ2_HUMAN elaC homolog 2 isoform 1 450 tRNA processing nucleus endonuclease activity|metal ion binding|protein binding 0 GAAGCTGCAGCGCCTCAACTA 0.572000 Hereditary_Prostate_Cancer FAM83G 644815 broad.mit.edu 37 17 18874692 18874692 + Missense_Mutation SNP G G A TCGA-BR-6564-01A-12D-1882-08 TCGA-BR-6564-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e66eb75-097c-4ad8-b2b3-9f5849dfd02f 32051bbc-4e2d-46f1-8495-b126556ab3bd g.chr17:18874692G>A uc002guw.2 - 6 2619 c.2452C>T c.(2452-2454)CGG>TGG p.R818W SLC5A10_uc002gur.1_Intron|SLC5A10_uc002guu.1_Intron|SLC5A10_uc002gut.1_Intron|SLC5A10_uc002guv.1_Intron|SLC5A10_uc010vyl.1_Intron NM_001039999 NP_001035088 A6ND36 FA83G_HUMAN hypothetical protein LOC644815 818 ovary(1)|central_nervous_system(1) 2 TTGCGGTCCCGGGGGGCTTGA 0.632000 ZNRF4 148066 broad.mit.edu 37 19 5456633 5456633 + Silent SNP G G A TCGA-BR-6564-01A-12D-1882-08 TCGA-BR-6564-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e66eb75-097c-4ad8-b2b3-9f5849dfd02f 32051bbc-4e2d-46f1-8495-b126556ab3bd g.chr19:5456633G>A uc002mca.3 + 1 1208 c.1131G>A c.(1129-1131)CCG>CCA p.P377P NM_181710 NP_859061 Q8WWF5 ZNRF4_HUMAN zinc and ring finger 4 precursor 377 Cytoplasmic (Potential). integral to membrane zinc ion binding p.P377Q(1) large_intestine(2) 2 UCEC - Uterine corpus endometrioid carcinoma (162;0.0002) CCTCCCTACCGGGCCACCGGC 0.682000 KHSRP 8570 broad.mit.edu 37 19 6417055 6417055 + Silent SNP G G C TCGA-BR-6564-01A-12D-1882-08 TCGA-BR-6564-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e66eb75-097c-4ad8-b2b3-9f5849dfd02f 32051bbc-4e2d-46f1-8495-b126556ab3bd g.chr19:6417055G>C uc002mer.3 - 12 1235 c.1125C>G c.(1123-1125)CCC>CCG p.P375P NM_003685 NP_003676 Q92945 FUBP2_HUMAN KH-type splicing regulatory protein 375 Gly-rich.|KH 3. mRNA processing|mRNA transport|regulation of transcription, DNA-dependent|RNA splicing, via transesterification reactions|transcription, DNA-dependent cytosol|nucleus DNA binding|protein binding|RNA binding skin(1) 1 ACCTGTCTGGGGGCCCCATTA 0.622000 C3 718 broad.mit.edu 37 19 6697719 6697719 + Missense_Mutation SNP C C T TCGA-BR-6564-01A-12D-1882-08 TCGA-BR-6564-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e66eb75-097c-4ad8-b2b3-9f5849dfd02f 32051bbc-4e2d-46f1-8495-b126556ab3bd g.chr19:6697719C>T uc002mfm.2 - 20 2589 c.2527G>A c.(2527-2529)GAG>AAG p.E843K NM_000064 NP_000055 P01024 CO3_HUMAN complement component 3 precursor 843 complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding skin(3)|ovary(1)|pancreas(1) 5 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) TCCACCTGCTCGTTTCGAACA 0.587000 CPAMD8 27151 broad.mit.edu 37 19 17104353 17104353 + Missense_Mutation SNP G G A TCGA-BR-6564-01A-12D-1882-08 TCGA-BR-6564-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e66eb75-097c-4ad8-b2b3-9f5849dfd02f 32051bbc-4e2d-46f1-8495-b126556ab3bd g.chr19:17104353G>A uc002nfb.2 - 12 1312 c.1280C>T c.(1279-1281)ACG>ATG p.T427M NM_015692 NP_056507 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain 380 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1) 13 AATCTGGACCGTCACCCCCTC 0.443000 TMEM143 55260 broad.mit.edu 37 19 48836573 48836573 + Missense_Mutation SNP A A G TCGA-BR-6564-01A-12D-1882-08 TCGA-BR-6564-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e66eb75-097c-4ad8-b2b3-9f5849dfd02f 32051bbc-4e2d-46f1-8495-b126556ab3bd g.chr19:48836573A>G uc002pix.1 - 8 1292 c.1283T>C c.(1282-1284)ATG>ACG p.M428T TMEM143_uc002piw.1_RNA|TMEM143_uc002piy.1_Missense_Mutation_p.M393T|TMEM143_uc010xzn.1_Missense_Mutation_p.M363T|TMEM143_uc010elw.1_Missense_Mutation_p.M328T|TMEM143_uc010xzo.1_Missense_Mutation_p.M218T NM_018273 NP_060743 Q96AN5 TM143_HUMAN transmembrane protein 143 428 integral to membrane|mitochondrion 0 all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157) GTACAATCCCATGCTGGGGGT 0.627000 NPRL2 10641 broad.mit.edu 37 3 50385317 50385317 + Silent SNP G G A TCGA-BR-6564-01A-12D-1882-08 TCGA-BR-6564-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e66eb75-097c-4ad8-b2b3-9f5849dfd02f 32051bbc-4e2d-46f1-8495-b126556ab3bd g.chr3:50385317G>A uc003daj.1 - 10 1351 c.948C>T c.(946-948)TTC>TTT p.F316F ZMYND10_uc003dag.1_5'Flank|ZMYND10_uc010hll.1_5'Flank|ZMYND10_uc003dah.1_5'Flank|ZMYND10_uc010hlm.1_5'Flank|NPRL2_uc003dai.1_Silent_p.F196F|CYB561D2_uc003dak.2_5'Flank|CYB561D2_uc003dal.2_5'Flank|CYB561D2_uc003dam.2_5'Flank NM_006545 NP_006536 Q8WTW4 NPRL2_HUMAN tumor suppressor candidate 4 316 negative regulation of kinase activity protein binding|protein kinase activity lung(1) 1 TCATAAGCCCGAACTGGATCA 0.577000 ARMC8 25852 broad.mit.edu 37 3 137983022 137983022 + Nonsense_Mutation SNP C C T TCGA-BR-6564-01A-12D-1882-08 TCGA-BR-6564-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e66eb75-097c-4ad8-b2b3-9f5849dfd02f 32051bbc-4e2d-46f1-8495-b126556ab3bd g.chr3:137983022C>T uc003esa.1 + 15 1592 c.1225C>T c.(1225-1227)CAG>TAG p.Q409* TXNDC6_uc003esd.1_Intron|TXNDC6_uc010huf.1_Intron|TXNDC6_uc003ese.1_Intron|ARMC8_uc011bmf.1_Nonsense_Mutation_p.Q392*|ARMC8_uc011bmg.1_Nonsense_Mutation_p.Q356*|ARMC8_uc011bmh.1_Nonsense_Mutation_p.Q350*|ARMC8_uc003esb.1_Nonsense_Mutation_p.Q381*|ARMC8_uc003esc.1_Nonsense_Mutation_p.Q181*|ARMC8_uc003esf.1_5'UTR NM_015396 NP_056211 Q8IUR7 ARMC8_HUMAN armadillo repeat containing 8 isoform 2 423 ARM 9. binding 0 AACCAGTTTCCAGGATCATGC 0.398000 MIER3 166968 broad.mit.edu 37 5 56234714 56234714 + Missense_Mutation SNP T T A TCGA-BR-6564-01A-12D-1882-08 TCGA-BR-6564-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e66eb75-097c-4ad8-b2b3-9f5849dfd02f 32051bbc-4e2d-46f1-8495-b126556ab3bd g.chr5:56234714T>A uc003jrd.1 - 4 336 c.311A>T c.(310-312)GAC>GTC p.D104V MIER3_uc003jqz.1_Missense_Mutation_p.D41V|MIER3_uc003jra.1_Missense_Mutation_p.D104V|MIER3_uc003jrb.1_5'UTR|MIER3_uc003jrc.1_Missense_Mutation_p.D109V NM_152622 NP_689835 Q7Z3K6 MIER3_HUMAN mesoderm induction early response 1, family 104 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding 0 Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223) OV - Ovarian serous cystadenocarcinoma(10;1.24e-37) ACTTACTTTGTCTAGTGTCAT 0.353000 BRD8 10902 broad.mit.edu 37 5 137485477 137485477 + Nonsense_Mutation SNP G G A TCGA-BR-6564-01A-12D-1882-08 TCGA-BR-6564-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e66eb75-097c-4ad8-b2b3-9f5849dfd02f 32051bbc-4e2d-46f1-8495-b126556ab3bd g.chr5:137485477G>A uc003lcf.1 - 23 3185 c.3130C>T c.(3130-3132)CAG>TAG p.Q1044* BRD8_uc003lcc.1_Intron NM_139199 NP_631938 Q9H0E9 BRD8_HUMAN bromodomain containing 8 isoform 2 1044 cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter mitochondrion|NuA4 histone acetyltransferase complex sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) GATTCTTGCTGAGCCTCCCCC 0.453000 SPDEF 25803 broad.mit.edu 37 6 34508912 34508912 + Nonsense_Mutation SNP C C T TCGA-BR-6564-01A-12D-1882-08 TCGA-BR-6564-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e66eb75-097c-4ad8-b2b3-9f5849dfd02f 32051bbc-4e2d-46f1-8495-b126556ab3bd g.chr6:34508912C>T uc003ojq.1 - 3 898 c.483G>A c.(481-483)TGG>TGA p.W161* SPDEF_uc011dsq.1_Nonsense_Mutation_p.W161* NM_012391 NP_036523 O95238 SPDEF_HUMAN SAM pointed domain containing ets transcription 161 PNT. negative regulation of survival gene product expression|negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity skin(3)|ovary(1)|central_nervous_system(1) 5 GGTGCTCTGTCCACAGGAGCC 0.652000 FRMPD4 9758 broad.mit.edu 37 X 12735849 12735849 + Silent SNP G G A TCGA-BR-6564-01A-12D-1882-08 TCGA-BR-6564-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e66eb75-097c-4ad8-b2b3-9f5849dfd02f 32051bbc-4e2d-46f1-8495-b126556ab3bd g.chrX:12735849G>A uc004cuz.1 + 16 3410 c.2904G>A c.(2902-2904)TCG>TCA p.S968S FRMPD4_uc011mij.1_Silent_p.S960S NM_014728 NP_055543 Q14CM0 FRPD4_HUMAN FERM and PDZ domain containing 4 968 positive regulation of synapse structural plasticity cytoskeleton|dendritic spine phosphatidylinositol-4,5-bisphosphate binding|protein binding central_nervous_system(5)|ovary(3)|skin(2)|large_intestine(1)|lung(1)|pancreas(1) 13 CAAAGTCCTCGCACGCCCTGG 0.602000 OFD1 8481 broad.mit.edu 37 X 13753462 13753462 + Silent SNP C C T TCGA-BR-6564-01A-12D-1882-08 TCGA-BR-6564-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e66eb75-097c-4ad8-b2b3-9f5849dfd02f 32051bbc-4e2d-46f1-8495-b126556ab3bd g.chrX:13753462C>T uc004cvp.3 + 2 467 c.108C>T c.(106-108)CTC>CTT p.L36L OFD1_uc004cvr.3_5'UTR|OFD1_uc011mil.1_5'UTR|OFD1_uc004cvq.3_5'UTR|OFD1_uc010nen.2_Silent_p.L35L|OFD1_uc004cvs.3_RNA|OFD1_uc004cvu.3_Silent_p.L35L|OFD1_uc004cvv.3_Silent_p.L35L|TRAPPC2_uc010nek.1_5'Flank|TRAPPC2_uc010nel.1_5'Flank|TRAPPC2_uc010nem.1_5'Flank NM_003611 NP_003602 O75665 OFD1_HUMAN oral-facial-digital syndrome 1 36 cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle centriole|cilium|cytosol|microtubule basal body|nuclear membrane alpha-tubulin binding|gamma-tubulin binding 0 TGGATACACTCAAGGTATCGG 0.393000 ZFX 7543 broad.mit.edu 37 X 24228401 24228401 + Silent SNP G G A TCGA-BR-6564-01A-12D-1882-08 TCGA-BR-6564-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e66eb75-097c-4ad8-b2b3-9f5849dfd02f 32051bbc-4e2d-46f1-8495-b126556ab3bd g.chrX:24228401G>A uc004dbf.2 + 9 1584 c.1326G>A c.(1324-1326)AGG>AGA p.R442R ZFX_uc004dbe.2_3'UTR|ZFX_uc011mjv.1_Silent_p.R481R|ZFX_uc010nfz.2_Silent_p.R98R NM_003410 NP_003401 P17010 ZFX_HUMAN zinc finger protein, X-linked 442 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding ovary(2) 2 TTTTGAAAAGGCACATGAAAA 0.403000 MED12 9968 broad.mit.edu 37 X 70357076 70357076 + Missense_Mutation SNP C C A TCGA-BR-6564-01A-12D-1882-08 TCGA-BR-6564-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e66eb75-097c-4ad8-b2b3-9f5849dfd02f 32051bbc-4e2d-46f1-8495-b126556ab3bd g.chrX:70357076C>A uc004dyy.2 + 39 5790 c.5591C>A c.(5590-5592)CCA>CAA p.P1864Q MED12_uc011mpq.1_Missense_Mutation_p.P1864Q|MED12_uc004dyz.2_Missense_Mutation_p.P1864Q|MED12_uc004dza.2_Missense_Mutation_p.P1711Q|MED12_uc010nla.2_Missense_Mutation_p.P490Q NM_005120 NP_005111 Q93074 MED12_HUMAN mediator complex subunit 12 1864 Interaction with CTNNB1 and GLI3. androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 4 Renal(35;0.156) GTGCGCTTACCAATGCAGAAG 0.567000 ZCCHC13 389874 broad.mit.edu 37 X 73524180 73524180 + Nonsense_Mutation SNP C C T TCGA-BR-6564-01A-12D-1882-08 TCGA-BR-6564-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e66eb75-097c-4ad8-b2b3-9f5849dfd02f 32051bbc-4e2d-46f1-8495-b126556ab3bd g.chrX:73524180C>T uc004ebs.3 + 1 156 c.79C>T c.(79-81)CGA>TGA p.R27* NM_203303 NP_976048 Q8WW36 ZCH13_HUMAN zinc finger, CCHC domain containing 13 27 nucleic acid binding|zinc ion binding 0 AGCTGGAGGGCGAAGAGGTGG 0.552000 MCART6 401612 broad.mit.edu 37 X 103349655 103349655 + Missense_Mutation SNP A A T TCGA-BR-6564-01A-12D-1882-08 TCGA-BR-6564-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e66eb75-097c-4ad8-b2b3-9f5849dfd02f 32051bbc-4e2d-46f1-8495-b126556ab3bd g.chrX:103349655A>T uc004elu.2 - 2 467 c.286T>A c.(286-288)TTT>ATT p.F96I NM_001012755 NP_001012773 Q5H9E4 MCAR6_HUMAN mitochondrial carrier triple repeat 6 96 Helical; Name=2; (Potential).|Solcar 1. transport integral to membrane|mitochondrial inner membrane 0 TAAGTCCCAAACAGAAGAGTC 0.567000 AMOT 154796 broad.mit.edu 37 X 112035177 112035177 + Silent SNP C C T TCGA-BR-6564-01A-12D-1882-08 TCGA-BR-6564-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e66eb75-097c-4ad8-b2b3-9f5849dfd02f 32051bbc-4e2d-46f1-8495-b126556ab3bd g.chrX:112035177C>T uc004epr.2 - 6 1809 c.1809G>A c.(1807-1809)GTG>GTA p.V603V AMOT_uc004eps.2_Silent_p.V194V NM_001113490 NP_001106962 Q4VCS5 AMOT_HUMAN angiomotin isoform 1 603 Potential. actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction|tight junction angiostatin binding|protein binding|receptor activity ovary(1) 1 GCATCTTCTCCACCTTGTCAA 0.483000 DOCK11 139818 broad.mit.edu 37 X 117810670 117810670 + Missense_Mutation SNP G G T TCGA-BR-6564-01A-12D-1882-08 TCGA-BR-6564-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e66eb75-097c-4ad8-b2b3-9f5849dfd02f 32051bbc-4e2d-46f1-8495-b126556ab3bd g.chrX:117810670G>T uc004eqp.2 + 48 5493 c.5430G>T c.(5428-5430)GAG>GAT p.E1810D DOCK11_uc004eqq.2_Missense_Mutation_p.E1589D NM_144658 NP_653259 Q5JSL3 DOC11_HUMAN dedicator of cytokinesis 11 1810 DHR-2. blood coagulation cytosol GTP binding ovary(3) 3 TTGGTACGGAGAATGTCAAAA 0.363000 SOX3 6658 broad.mit.edu 37 X 139586762 139586762 + Missense_Mutation SNP C C T TCGA-BR-6564-01A-12D-1882-08 TCGA-BR-6564-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e66eb75-097c-4ad8-b2b3-9f5849dfd02f 32051bbc-4e2d-46f1-8495-b126556ab3bd g.chrX:139586762C>T uc004fbd.1 - 1 464 c.464G>A c.(463-465)CGC>CAC p.R155H NM_005634 NP_005625 P41225 SOX3_HUMAN SRY (sex determining region Y)-box 3 155 HMG box. face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent nucleus DNA binding pancreas(1) 1 Acute lymphoblastic leukemia(192;7.65e-05) GGCCATTTTGCGCCGCTGCCC 0.632000 SLC9A4 389015 broad.mit.edu 37 2 103130668 103130669 + Frame_Shift_Ins INS - - A TCGA-BR-6564-01A-12D-1882-08 TCGA-BR-6564-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e66eb75-097c-4ad8-b2b3-9f5849dfd02f 32051bbc-4e2d-46f1-8495-b126556ab3bd g.chr2:103130667_103130668G>GA uc002tbz.4 + 7 2135_2136 c.1678_1679G>GA c.(1678-1680)gagfs p.E560fs NM_001011552 NP_001011552 Q6AI14 SL9A4_HUMAN Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA. 560 regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 CGAGATGGTGGAGACtgggata 0.431 NBEAL1 65065 broad.mit.edu 37 2 204045127 204045127 + Frame_Shift_Del DEL T T - TCGA-BR-6564-01A-12D-1882-08 TCGA-BR-6564-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e66eb75-097c-4ad8-b2b3-9f5849dfd02f 32051bbc-4e2d-46f1-8495-b126556ab3bd g.chr2:204045126_204045126GT>G uc002uzt.3 + 41 6732 c.6399_6399GT>G c.(6397-6399)cagfs p.Q2133fs NBEAL1_uc021vvj.1_Frame_Shift_Del_p.Q836fs NM_001114132 NP_001107604 Q6ZS30 NBEL1_HUMAN Homo sapiens neurobeachin-like 1 (NBEAL1), mRNA. 2133 BEACH. binding NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 CAGATCGACAGTTCCATTCTA 0.338 SMAD4 4089 broad.mit.edu 37 18 48591918 48591929 + In_Frame_Del DEL CGCTTTTGTTTG CGCTTTTGTTTG - rs80338963 byFrequency TCGA-BR-6564-01A-12D-1882-08 TCGA-BR-6564-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e66eb75-097c-4ad8-b2b3-9f5849dfd02f 32051bbc-4e2d-46f1-8495-b126556ab3bd g.chr18:48591917_48591928TCGCTTTTGTTTG>T uc010xdp.2 + 8 1618_1629 c.1080_1091TCGCTTTTGTTTG>T c.(1078-1092)gatcgcttttgtttg>gaTg p.RFCL361del SMAD4_uc002lfb.4_In_Frame_Del_p.RFCL206del NM_005359 NP_005350 Q13485 SMAD4_HUMAN Homo sapiens SMAD family member 4 (SMAD4), mRNA. 361 MH2. R -> C (in JPS).|R -> H (in a colorectal cancer sample; somatic mutation). BMP signaling pathway|SMAD protein complex assembly|SMAD protein signal transduction|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of SMAD protein import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|transforming growth factor beta receptor signaling pathway activin responsive factor complex|centrosome|cytosol I-SMAD binding|R-SMAD binding|protein homodimerization activity|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity p.0?(36)|p.R361H(24)|p.R361C(10)|p.R361S(4)|p.F362fs*2(2)|p.?(2)|p.C363R(2)|p.C363S(2)|p.D360fs*24(1) NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1) 454 all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336) Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155) CTGGAGGAGATCGCTTTTGTTTGGGTCAACTC 0.406