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 validation_method t_ref_count validation_status validation_tumor_sample t_alt_count validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut CD99 4267 broad.mit.edu 37 X 2640667 2640667 + Splice_Site SNP G T T TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chrX:2640667G>T uc004cqm.3 + 6 437 c.263_splice c.e6-1 p.G88_splice CD99_uc010nda.3_Splice_Site_p.G72_splice|CD99_uc004cqn.3_Splice_Site NM_002414 NP_002405 P14209 CD99_HUMAN Homo sapiens CD99 molecule (CD99), transcript variant 1, mRNA. 88 cell adhesion cytoplasm|integral to plasma membrane breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1) 11 TTCTTTCCTAGGTAGCTTTTC 0.448000 139 31 1.36161e-19 4.26754e-18 0.000132358 1 0 NCOR1 9611 broad.mit.edu 37 17 15974803 15974803 + Missense_Mutation SNP C G G TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr17:15974803C>G uc002gpo.3 - 29 4341 c.4072G>C c.(4072-4074)Gat>Cat p.D1358H NCOR1_uc002gpn.3_Missense_Mutation_p.D1374H|NCOR1_uc002gpp.1_Missense_Mutation_p.D1265H|NCOR1_uc010vwb.2_Intron|NCOR1_uc010coy.3_Missense_Mutation_p.D266H|NCOR1_uc010vwc.2_Missense_Mutation_p.D169H NM_006311 NP_006302 O75376 NCOR1_HUMAN Homo sapiens nuclear receptor corepressor 1 (NCOR1), transcript variant 1, mRNA. 1358 Interaction with ETO. cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10) 107 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) GTTAAAATATCTTGCCTTGGA 0.443000 77 18 0 0 5.01169e-05 0 0 EXOC7 23265 broad.mit.edu 37 17 74097367 74097368 + Missense_Mutation DNP CG AT AT TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr17:74097367_74097368CG>AT uc002jqs.3 - 3 496_497 c.401_402CG>AT c.(400-402)ccg>cAT p.P134H EXOC7_uc010dgv.2_Missense_Mutation_p.P81H|EXOC7_uc010wsv.2_Missense_Mutation_p.P93H|EXOC7_uc010wsw.2_Missense_Mutation_p.P134H|EXOC7_uc002jqq.3_Missense_Mutation_p.P134H|EXOC7_uc010wsx.2_Missense_Mutation_p.P134H|EXOC7_uc002jqr.3_Missense_Mutation_p.P134H|EXOC7_uc002jqu.2_Missense_Mutation_p.P134H|EXOC7_uc002jqv.2_Missense_Mutation_p.P134H NM_001145297 NP_001138769 Q9UPT5 EXOC7_HUMAN Homo sapiens exocyst complex component 7 (EXOC7), transcript variant 4, mRNA. 134 exocytosis|protein transport centriolar satellite|cytosol|exocyst|plasma membrane protein binding NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1) 14 LUSC - Lung squamous cell carcinoma(166;0.187) TGTTGAGTTCCGGGCTGTCTGG 0.545000 265 9 0 0 6.4e-05 0 0 KCNMA1 3778 broad.mit.edu 37 10 78872169 78872169 + Missense_Mutation SNP T C C TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr10:78872169T>C uc001jxn.3 - 6 1093 c.916A>G c.(916-918)Ata>Gta p.I306V KCNMA1_uc021ptu.1_Missense_Mutation_p.I252V|KCNMA1_uc001jxj.2_Missense_Mutation_p.I306V|KCNMA1_uc001jxk.1_5'UTR|KCNMA1_uc009xrt.1_Missense_Mutation_p.I126V|KCNMA1_uc001jxl.1_5'Flank|KCNMA1_uc001jxo.3_Missense_Mutation_p.I306V|KCNMA1_uc001jxm.3_Missense_Mutation_p.I306V|KCNMA1_uc001jxq.3_Missense_Mutation_p.I306V NM_001161352 NP_001154824 Q12791 KCMA1_HUMAN Homo sapiens potassium large conductance calcium-activated channel, subfamily M, alpha member 1 (KCNMA1), transcript variant 3, mRNA. 306 cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 68 all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198) OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183) Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021) CTGATAAATATGGAGAGCAGA 0.522000 OREG0020286 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 12 0 0 0.000151284 0 0 ZBTB16 7704 broad.mit.edu 37 11 113934596 113934596 + Missense_Mutation SNP G A A TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr11:113934596G>A uc001pop.3 + 1 838 c.574G>A c.(574-576)Ggt>Agt p.G192S ZBTB16_uc001poo.1_Missense_Mutation_p.G192S|ZBTB16_uc001poq.3_Missense_Mutation_p.G192S NM_006006 NP_005997 Q05516 ZBT16_HUMAN Homo sapiens zinc finger and BTB domain containing 16 (ZBTB16), transcript variant 1, mRNA. 192 apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent PML body|nuclear speck|transcriptional repressor complex protein homodimerization activity|zinc ion binding central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2) 6 all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438) BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018) CACTTCATTTGGTCTTTCAGC 0.582000 867 61 0 0 0.000147903 0 0 HDAC5 10014 broad.mit.edu 37 17 42161941 42161941 + Missense_Mutation SNP C G G TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr17:42161941C>G uc002iff.1 - 15 2622 c.2290G>C c.(2290-2292)Gac>Cac p.D764H HDAC5_uc002ifd.1_Missense_Mutation_p.D763H|HDAC5_uc002ife.1_Missense_Mutation_p.D763H|HDAC5_uc010czp.1_Intron|HDAC5_uc002ifg.1_Missense_Mutation_p.D73H|HDAC5_uc002ifh.2_Missense_Mutation_p.D763H NM_001015053 NP_001015053 Q9UQL6 HDAC5_HUMAN Homo sapiens histone deacetylase 5 (HDAC5), transcript variant 3, mRNA. 763 Histone deacetylase. B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent cytoplasm|histone deacetylase complex NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|protein kinase C binding|repressing transcription factor binding central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1) 21 Breast(137;0.00637)|Prostate(33;0.0313) BRCA - Breast invasive adenocarcinoma(366;0.118) TTCTTGCTGTCTAGCTTCTGC 0.592000 OREG0024450 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 63 20 0 0 0.000175454 0 0 KIAA1045 23349 broad.mit.edu 37 9 34977182 34977182 + Silent SNP C A A TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr9:34977182C>A uc003zvq.3 + 5 1130 c.952C>A c.(952-954)Cgg>Agg p.R318R KIAA1045_uc003zvr.3_Silent_p.R318R NM_015297 NP_056112 Q9UPV7 K1045_HUMAN Homo sapiens KIAA1045 (KIAA1045), mRNA. 318 calcium ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 LUSC - Lung squamous cell carcinoma(32;0.00575) AGAGTGCCGCCGGGCCCAGCA 0.637000 47 24 2.41591e-17 7.29487e-16 9.22233e-05 1 0 HCAR2 338442 broad.mit.edu 37 12 123187358 123187358 + Missense_Mutation SNP A T T TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr12:123187358A>T uc001ucx.1 - 0 547 c.473T>A c.(472-474)cTg>cAg p.L158Q HCAR1_uc001ucw.1_Intron NM_177551 NP_808219 Q8TDS4 HCAR2_HUMAN Homo sapiens hydroxycarboxylic acid receptor 2 (HCAR2), mRNA. 158 negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis integral to membrane|plasma membrane nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 15 Mepenzolate(DB04843)|Niacin(DB00627) GTGGACTGTCAGGCCAATAGT 0.547000 83 20 0 0 0.000229342 0 0 CD70 970 broad.mit.edu 37 19 6586403 6586403 + Silent SNP G A A TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr19:6586403G>A uc010xjf.1 - 2 360 c.210C>T c.(208-210)gaC>gaT p.D70D CD70_uc002mfi.3_Silent_p.D70D NM_001252 NP_001243 P32970 CD70_HUMAN Homo sapiens CD70 molecule (CD70), mRNA. 70 cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction extracellular space|integral to membrane of membrane fraction|integral to plasma membrane cytokine activity|protease binding|tumor necrosis factor receptor binding endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|skin(1) 11 ATAGCCTGGGGTCCTGCTGAG 0.582000 14 8 0 0 0.000157383 0 0 PDC 5132 broad.mit.edu 37 1 186413523 186413523 + Missense_Mutation SNP C A A TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr1:186413523C>A uc001gsa.3 - 3 402 c.329G>T c.(328-330)aGa>aTa p.R110I MIR548F1_uc021pgf.1_Intron|PDC_uc001grz.3_Missense_Mutation_p.R58I NM_002597 NP_072098 P20941 PHOS_HUMAN Homo sapiens phosducin (PDC), transcript variant 1, mRNA. 110 G-protein coupled receptor protein signaling pathway|phototransduction|visual perception actin cytoskeleton|cytosol|nucleus|photoreceptor inner segment|photoreceptor outer segment phospholipase inhibitor activity central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1) 7 Breast(1374;1.53e-05) KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.0129) AAACCCATATCTAGGCCCAAA 0.383000 13 38 8.20599e-20 2.60487e-18 0.000106405 1 0 SLC22A4 6583 broad.mit.edu 37 5 131630375 131630375 + Silent SNP C T T TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr5:131630375C>T uc003kwq.3 + 0 231 c.66C>T c.(64-66)ttC>ttT p.F22F BC030525_uc003kwm.4_Intron|SLC22A4_uc010jdq.1_5'Flank NM_003059 NP_003050 Q9H015 S22A4_HUMAN Homo sapiens solute carrier family 22 (organic cation/ergothioneine transporter), member 4 (SLC22A4), mRNA. 22 body fluid secretion|sodium ion transport apical plasma membrane|integral to plasma membrane|mitochondrion ATP binding|PDZ domain binding|carnitine transporter activity|cation:cation antiporter activity|secondary active organic cation transmembrane transporter activity|symporter activity endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1) 16 all_cancers(142;0.0752)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) L-Carnitine(DB00583) GCCTCATCTTCTTCCTGCTCA 0.637000 74 5 0 0 8.12818e-05 0 0 RLIM 51132 broad.mit.edu 37 X 73811749 73811749 + Silent SNP G C C TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chrX:73811749G>C uc004ebu.3 - 4 1691 c.1401C>G c.(1399-1401)tcC>tcG p.S467S RLIM_uc004ebw.3_Silent_p.S467S NM_183353 NP_899196 Q9NVW2 RNF12_HUMAN Homo sapiens ring finger protein, LIM domain interacting (RLIM), transcript variant 2, mRNA. 467 Poly-Ser.|Ser-rich. random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytoplasm|transcriptional repressor complex transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 aactggaactggaactcgaac 0.468000 20 3 0 0 6.4e-05 0 0 MUC4 4585 broad.mit.edu 37 3 195515747 195515747 + Missense_Mutation SNP C T T TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr3:195515747C>T uc021xjp.1 - 1 2860 c.2704G>A c.(2704-2706)Gcc>Acc p.A902T MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron|MUC4_uc021xjq.1_Missense_Mutation_p.A784T NM_018406 NP_060876 Q99102 MUC4_HUMAN Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA. 907 Ser-rich. cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity p.A902T(2) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GAAATGGCGGCTGTCTCCTGA 0.607000 20 11 0 0 6.40141e-05 0 0 HEATR4 399671 broad.mit.edu 37 14 73985814 73985814 + Nonsense_Mutation SNP C A A TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr14:73985814C>A uc021rwe.1 - 4 1471 c.1123G>T c.(1123-1125)Gaa>Taa p.E375* HEATR4_uc021rwf.1_Nonsense_Mutation_p.E328*|HEATR4_uc010tub.1_Nonsense_Mutation_p.E375* NM_001220484 NP_001207413 Homo sapiens HEAT repeat containing 4 (HEATR4), transcript variant 1, mRNA. breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 28 BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719) TTTAGGTTTTCCAGGACAATC 0.453000 45 21 1.55795e-14 4.59223e-13 0.000229342 1 0 ZBTB16 7704 broad.mit.edu 37 11 113934445 113934445 + Silent SNP G T T TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr11:113934445G>T uc001pop.3 + 1 687 c.423G>T c.(421-423)ggG>ggT p.G141G ZBTB16_uc001poo.1_Silent_p.G141G|ZBTB16_uc001poq.3_Silent_p.G141G NM_006006 NP_005997 Q05516 ZBT16_HUMAN Homo sapiens zinc finger and BTB domain containing 16 (ZBTB16), transcript variant 1, mRNA. 141 apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent PML body|nuclear speck|transcriptional repressor complex protein homodimerization activity|zinc ion binding central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2) 6 all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438) BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018) CCGATGGCGGGGCCGAGGAAG 0.582000 881 50 1.35964e-18 4.15613e-17 0.000147903 1 0 LRRC32 2615 broad.mit.edu 37 11 76371968 76371968 + Silent SNP T C C TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr11:76371968T>C uc001oxq.4 - 2 912 c.669A>G c.(667-669)ctA>ctG p.L223L LRRC32_uc001oxr.4_Silent_p.L223L|LRRC32_uc010rsf.2_Silent_p.L223L NM_005512 NP_005503 Q14392 LRC32_HUMAN Homo sapiens leucine rich repeat containing 32 (LRRC32), transcript variant 1, mRNA. 223 L -> V (in dbSNP:rs35033061). integral to plasma membrane p.V222L(2) endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1) 31 AGCTCAGGTCTAGCACCCGCA 0.622000 638 40 0 0 0.000319135 0 0 PRG4 10216 broad.mit.edu 37 1 186276689 186276689 + Missense_Mutation SNP C G G TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr1:186276689C>G uc001gru.4 + 6 1889 c.1838C>G c.(1837-1839)cCc>cGc p.P613R MIR548F1_uc021pgf.1_Intron|PRG4_uc001grt.4_Missense_Mutation_p.P572R|PRG4_uc009wyl.3_Missense_Mutation_p.P520R|PRG4_uc009wym.3_Missense_Mutation_p.P479R|PRG4_uc010poo.2_Intron NM_005807 NP_005798 Q92954 PRG4_HUMAN Homo sapiens proteoglycan 4 (PRG4), transcript variant A, mRNA. 613 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CCAACTACCCCCAAGGAGACT 0.662000 18 41 0 0 0.000147903 0 0 KRT6C 286887 broad.mit.edu 37 12 52865071 52865071 + Missense_Mutation SNP G T T rs143318086 TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr12:52865071G>T uc001sal.4 - 4 970 c.922C>A c.(922-924)Cag>Aag p.Q308K NM_173086 NP_775109 P48668 K2C6C_HUMAN Homo sapiens keratin 6C (KRT6C), mRNA. 308 Coil 1B.|Rod. cytoskeleton organization keratin filament structural molecule activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2) 23 BRCA - Breast invasive adenocarcinoma(357;0.0828) GTCTGCATCTGGGACAGCTCC 0.502000 230 28 3.6622e-26 1.19311e-24 0.000109025 1 0 DNM2 1785 broad.mit.edu 37 19 10939755 10939755 + Missense_Mutation SNP C T T TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr19:10939755C>T uc002mpt.2 + 18 2292 c.2102C>T c.(2101-2103)tCc>tTc p.S701F DNM2_uc010dxk.2_Intron|DNM2_uc002mps.2_Missense_Mutation_p.S701F|DNM2_uc010dxl.2_Missense_Mutation_p.S701F|DNM2_uc002mpu.2_Missense_Mutation_p.S697F|DNM2_uc002mpv.2_Missense_Mutation_p.S697F|DNM2_uc002mpw.3_Missense_Mutation_p.S430F|DNM2_uc002mpx.1_Missense_Mutation_p.S57F NM_001005360 NP_001005360 P50570 DYN2_HUMAN Homo sapiens dynamin 2 (DNM2), transcript variant 1, mRNA. 701 GED. G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport Golgi membrane|cell junction|cytosol|microtubule|postsynaptic density|postsynaptic membrane GTP binding|GTPase activity|microtubule binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 42 Epithelial(33;4.17e-05)|all cancers(31;8.48e-05) TACCTATACTCCTCGGCAGAC 0.632000 """F, N, Splice, Mis, O""" ETP ALL 27 6 0 0 8.12818e-05 0 0 PSPC1 55269 broad.mit.edu 37 13 20279862 20279862 + Silent SNP G A A TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr13:20279862G>A uc021rgx.1 - 8 1463 c.1326C>T c.(1324-1326)gcC>gcT p.A442A NM_001042414 NP_001035879 Q8WXF1 PSPC1_HUMAN Homo sapiens paraspeckle component 1 (PSPC1), transcript variant 1, mRNA. 442 Gly-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nuclear matrix|nucleolus RNA binding|nucleotide binding|protein binding p.P441T(2) breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483) CTGGTCCCATGGCAGGACCAG 0.463000 19 5 0 0 8.12818e-05 0 0 BAGE1 0 broad.mit.edu 37 GL000237.1 2545 2545 + RNA SNP G A A TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chrGL000237.1:2545G>A uc011mgu.1 - 0 c.142C>T Homo sapiens B melanoma antigen variant f (BAGE1) mRNA, complete cds, alternatively spliced. ctccagccgcgctgccatctc 0.627000 18 25 0 0 0.000184323 0 0 SHMT2 6472 broad.mit.edu 37 12 57626583 57626583 + Missense_Mutation SNP G A A TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr12:57626583G>A uc001snf.2 + 6 1020 c.814G>A c.(814-816)Gac>Aac p.D272N SHMT2_uc001snh.2_Missense_Mutation_p.D274N|SHMT2_uc009zpk.2_Missense_Mutation_p.D262N|SHMT2_uc001sng.2_Missense_Mutation_p.D168N|SHMT2_uc001sni.2_Missense_Mutation_p.D251N|SHMT2_uc010srg.2_Missense_Mutation_p.D281N|SHMT2_uc010srh.2_Missense_Mutation_p.D251N|SHMT2_uc001snj.2_Missense_Mutation_p.D176N|SHMT2_uc010sri.2_Missense_Mutation_p.D251N|SHMT2_uc001snk.2_Missense_Mutation_p.D176N|SHMT2_uc010srj.2_5'Flank NM_005412 NP_001159831 P34897 GLYM_HUMAN Homo sapiens serine hydroxymethyltransferase 2 (mitochondrial) (SHMT2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 272 microtubule cytoskeleton|mitochondrial nucleoid glycine hydroxymethyltransferase activity|methyltransferase activity breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 15 Glycine(DB00145)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116) CAAGCACGCGGACATCGTCAC 0.602000 352 14 0 0 0.000308642 0 0 PLXNC1 10154 broad.mit.edu 37 12 94637742 94637742 + Nonsense_Mutation SNP A T T TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr12:94637742A>T uc001tdc.3 + 11 2578 c.2329A>T c.(2329-2331)Aga>Tga p.R777* NM_005761 NP_005752 O60486 PLXC1_HUMAN Homo sapiens plexin C1 (PLXNC1), transcript variant 1, mRNA. 777 axon guidance|cell adhesion integral to membrane|intracellular|plasma membrane receptor activity|receptor binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 CATGATGGGCAGAAATTTTGA 0.328000 3 12 0 0 0.000422831 0 0 CRTAC1 55118 broad.mit.edu 37 10 99683047 99683047 + Missense_Mutation SNP G A A TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr10:99683047G>A uc001kou.2 - 3 888 c.532C>T c.(532-534)Cgc>Tgc p.R178C CRTAC1_uc001kov.3_Missense_Mutation_p.R178C|CRTAC1_uc001kot.2_5'UTR NM_018058 NP_060528 Q9NQ79 CRAC1_HUMAN Homo sapiens cartilage acidic protein 1 (CRTAC1), transcript variant 1, mRNA. 178 proteinaceous extracellular matrix calcium ion binding p.R178C(2) autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 35 Colorectal(252;0.24) Epithelial(162;2.18e-10)|all cancers(201;3.27e-09) GCCACAGAGCGTCCGGCAAAG 0.592000 54 7 0 0 0.000274275 0 0 BAGE1 0 broad.mit.edu 37 GL000237.1 2525 2525 + RNA SNP C T T TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chrGL000237.1:2525C>T uc011mgu.1 - 0 c.162G>A Homo sapiens B melanoma antigen variant f (BAGE1) mRNA, complete cds, alternatively spliced. ctcaggccaccctcctaacac 0.637000 28 36 0 0 8.96297e-05 0 0 GALNT14 79623 broad.mit.edu 37 2 31155012 31155012 + Missense_Mutation SNP G T T TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr2:31155012G>T uc002rns.3 - 10 1635 c.995C>A c.(994-996)cCc>cAc p.P332H GALNT14_uc002rnq.3_Missense_Mutation_p.P307H|GALNT14_uc010ymr.2_Missense_Mutation_p.P292H|GALNT14_uc002rnr.3_Missense_Mutation_p.P327H|GALNT14_uc010ezo.2_Missense_Mutation_p.P294H|GALNT14_uc010ezp.1_3'UTR NM_001253826 NP_001240755 Q96FL9 GLT14_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) (GALNT14), transcript variant 2, mRNA. 327 Catalytic subdomain B. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3) 43 Acute lymphoblastic leukemia(172;0.155) TCGGCTGCAGGGGACGATCTC 0.567000 35 24 7.92952e-12 2.30982e-10 7.16444e-05 1 0 MAP3K4 4216 broad.mit.edu 37 6 161513084 161513084 + Nonsense_Mutation SNP C T T TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr6:161513084C>T uc003qtn.3 + 12 3320 c.3178C>T c.(3178-3180)Cag>Tag p.Q1060* MAP3K4_uc010kkc.1_Nonsense_Mutation_p.Q1060*|MAP3K4_uc003qto.3_Nonsense_Mutation_p.Q1060*|MAP3K4_uc011efz.2_Non-coding_Transcript|MAP3K4_uc011ega.2_Nonsense_Mutation_p.Q513*|MAP3K4_uc003qtp.3_Nonsense_Mutation_p.Q50* NM_005922 NP_005913 Q9Y6R4 M3K4_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase 4 (MAP3K4), transcript variant 1, mRNA. 1060 JNK cascade|activation of MAPKK activity|positive regulation of JUN kinase activity perinuclear region of cytoplasm ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1) 77 Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771) OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05) GGAGTTTAGACAGAAGATAGG 0.358000 49 72 0 0 0.000147903 0 0 MET 4233 broad.mit.edu 37 7 116339558 116339558 + Silent SNP C G G TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr7:116339558C>G uc003vij.3 + 1 607 c.420C>G c.(418-420)acC>acG p.T140T MET_uc022akk.1_Silent_p.T140T|MET_uc010lkh.3_Silent_p.T140T|MET_uc011knc.1_Silent_p.T140T|MET_uc011knd.2_Silent_p.T140T|MET_uc011knf.2_Silent_p.T140T|MET_uc011kne.2_Silent_p.T140T|MET_uc011kng.1_Silent_p.T140T|MET_uc011knh.1_Silent_p.T140T|MET_uc011kni.2_Silent_p.T140T|MET_uc003vii.1_Silent_p.T159T|MET_uc010lkg.3_Silent_p.T140T|MET_uc011kmz.1_Silent_p.T140T|MET_uc011kna.1_Silent_p.T140T|MET_uc011knb.1_Silent_p.T140T NM_000245 NP_000236 P08581 MET_HUMAN Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), transcript variant 2, mRNA. 140 Sema. axon guidance|cell proliferation basal plasma membrane|integral to plasma membrane ATP binding|hepatocyte growth factor receptor activity|protein binding NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3) 233 all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125) Ovarian(593;0.133) GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512) ACAGAGGGACCTGCCAGCGAC 0.488000 Mis """papillary renal, head-neck squamous cell """ papillary renal Hereditary Papillary Renal Carcinoma (type 1) 34 19 0 0 9.7654e-05 0 0 VPS13A 23230 broad.mit.edu 37 9 79898509 79898509 + Silent SNP C T T TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr9:79898509C>T uc004akr.3 + 30 3542 c.3282C>T c.(3280-3282)aaC>aaT p.N1094N VPS13A_uc004akp.4_Silent_p.N1094N|VPS13A_uc004akq.4_Silent_p.N1094N|VPS13A_uc004aks.3_Silent_p.N1055N NM_033305 NP_150648 Q96RL7 VP13A_HUMAN Homo sapiens vacuolar protein sorting 13 homolog A (S. cerevisiae) (VPS13A), transcript variant A, mRNA. 1094 Golgi to endosome transport|protein transport intracellular protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 CTGAAATAAACGCAAAGCTAA 0.284000 5 5 0 0 1.23904e-05 0 0 SLC25A10 1468 broad.mit.edu 37 17 79687107 79687107 + Nonstop_Mutation SNP A C C TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr17:79687107A>C uc010wut.2 + 14 1461 c.1329A>C c.(1327-1329)tgA>tgC p.*443C SLC25A10_uc002kbi.3_Nonstop_Mutation_p.*288C|SLC25A10_uc010dif.3_Nonstop_Mutation_p.*297C|SLC25A10_uc010wuu.2_Nonstop_Mutation_p.*242C NM_012140 NP_036272 Q9UBX3 DIC_HUMAN Homo sapiens solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10 (SLC25A10), nuclear gene encoding mitochondrial protein, mRNA. 0 gluconeogenesis|mitochondrial transport integral to membrane|mitochondrial inner membrane|nucleus protein binding p.*288C(1) endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(2) 14 all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23) BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955) Succinic acid(DB00139) TGCCATCCTGACCAGCCGTGG 0.607000 63 15 0 0 9.22233e-05 0 0 JUP 3728 broad.mit.edu 37 17 39913672 39913672 + Missense_Mutation SNP C T T TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr17:39913672C>T uc002hxq.2 - 11 2318 c.2041G>A c.(2041-2043)Gag>Aag p.E681K JUP_uc010wfs.2_Intron|JUP_uc002hxr.2_Missense_Mutation_p.E681K|JUP_uc002hxs.2_Missense_Mutation_p.E681K NM_021991 NP_068831 P14923 PLAK_HUMAN Homo sapiens junction plakoglobin (JUP), transcript variant 2, mRNA. 681 adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of Wnt receptor signaling pathway involved in heart development|negative regulation of heart induction by canonical Wnt receptor signaling pathway|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development Axin-APC-beta-catenin-GSK3B complex|Z disc|actin cytoskeleton|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|zonula adherens RPTP-like protein binding|alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1) 23 Breast(137;0.000162) BRCA - Breast invasive adenocarcinoma(4;0.233) BRCA - Breast invasive adenocarcinoma(366;0.15) CTCACAGCCTCCCAGGCAGCC 0.572000 91 32 0 0 0.000270559 0 0 MLL 4297 broad.mit.edu 37 11 118376241 118376241 + Missense_Mutation SNP A G G TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr11:118376241A>G uc001pta.3 + 26 9648 c.9625A>G c.(9625-9627)Acc>Gcc p.T3209A MLL_uc001ptb.3_Missense_Mutation_p.T3212A NM_005933 NP_005924 Q03164 MLL1_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA. 3209 apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter MLL1 complex AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19) 131 all_hematologic(175;0.046) all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244) OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144) AGACCTCAGTACCACAGTAGC 0.488000 """T, O""" """MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB""" """AML, ALL""" 10 27 0 0 7.16444e-05 0 0 NCOR1 9611 broad.mit.edu 37 17 16052809 16052809 + Missense_Mutation SNP G A A TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr17:16052809G>A uc002gpo.3 - 8 1134 c.865C>T c.(865-867)Ctc>Ttc p.L289F NCOR1_uc002gpn.3_Missense_Mutation_p.L289F|NCOR1_uc002gpp.1_Missense_Mutation_p.L180F|NCOR1_uc002gpr.3_Missense_Mutation_p.L180F|NCOR1_uc002gps.2_Missense_Mutation_p.L298F|NCOR1_uc010cpb.2_Missense_Mutation_p.L298F|NCOR1_uc010coz.2_Missense_Mutation_p.L105F|NCOR1_uc010cpa.2_Missense_Mutation_p.L289F NM_006311 NP_006302 O75376 NCOR1_HUMAN Homo sapiens nuclear receptor corepressor 1 (NCOR1), transcript variant 1, mRNA. 289 Interaction with SIN3A/B.|Interaction with ZBTB33 and HEXIM1. cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10) 107 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) AATAAAATGAGTTTTTTCCTC 0.313000 114 27 0 0 0.000184323 0 0 ZFR2 23217 broad.mit.edu 37 19 3821378 3821378 + Missense_Mutation SNP C T T TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr19:3821378C>T uc002lyw.2 - 9 1603 c.1591G>A c.(1591-1593)Gag>Aag p.E531K ZFR2_uc010xhx.1_Non-coding_Transcript NM_015174 NP_055989 Q9UPR6 ZFR2_HUMAN Homo sapiens zinc finger RNA binding protein 2 (ZFR2), transcript variant 1, mRNA. 531 intracellular nucleic acid binding|zinc ion binding central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1) 16 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19) TCCAGCCGCTCCTCCGCCAGG 0.697000 10 7 0 0 8.12818e-05 0 0 BAGE 574 broad.mit.edu 37 21 11049623 11049623 + Splice_Site SNP T C C rs28537865 TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr21:11049623T>C uc002yiu.1 - 4 480 c.280_splice c.e4-1 BAGE_uc002yit.1_Splice_Site_p.R94_splice NM_182484 NP_872290 Q13072 BAGE1_HUMAN Homo sapiens B melanoma antigen family, member 5 (BAGE5), mRNA. extracellular region Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) CTTCCTTCGCTATAATTAACA 0.368000 44 43 0 0 0.000106405 0 0 TTI1 9675 broad.mit.edu 37 20 36634691 36634691 + Missense_Mutation SNP G T T TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr20:36634691G>T uc002xhl.3 - 3 2620 c.2411C>A c.(2410-2412)aCc>aAc p.T804N TTI1_uc002xhm.3_Missense_Mutation_p.T804N NM_014657 NP_055472 O43156 TTI1_HUMAN Homo sapiens TELO2 interacting protein 1 (TTI1), mRNA. 804 binding breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3) 47 TTCAGCTGTGGTGGTGCTCTT 0.448000 162 36 9.8876e-21 3.17944e-19 0.000159656 1 0 TAS2R43 259289 broad.mit.edu 37 12 11244482 11244482 + Missense_Mutation SNP A G G TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr12:11244482A>G uc001qzq.1 - 0 431 c.347T>C c.(346-348)tTt>tCt p.F116S PRH1_uc001qzb.4_Intron|TAS2R14_uc021qve.1_Intron|PRH1_uc021qvg.1_Intron|PRB4_uc001qzf.1_Intron|TAS2R14_uc001qzj.3_Intron NM_176884 NP_795365 P59537 T2R43_HUMAN Homo sapiens taste receptor, type 2, member 43 (TAS2R43), mRNA. 116 detection of chemical stimulus involved in sensory perception of bitter taste cilium membrane|motile cilium bitter taste receptor activity endometrium(1)|ovary(1)|prostate(2)|urinary_tract(1) 5 OV - Ovarian serous cystadenocarcinoma(49;0.0344) BRCA - Breast invasive adenocarcinoma(232;0.196) AAGAAAAATAAAGTTGGAGAA 0.378000 30 3 0 0 6.4e-05 0 0 BAGE 574 broad.mit.edu 37 21 11049621 11049621 + Splice_Site SNP G A A rs28441174 TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr21:11049621G>A uc002yiu.1 - 4 480 c.280_splice c.e4-1 BAGE_uc002yit.1_Splice_Site_p.R94_splice NM_182484 NP_872290 Q13072 BAGE1_HUMAN Homo sapiens B melanoma antigen family, member 5 (BAGE5), mRNA. extracellular region Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ATCTTCCTTCGCTATAATTAA 0.368000 45 42 0 0 0.000106405 0 0 DNAH9 1770 broad.mit.edu 37 17 11572800 11572800 + Silent SNP G A A TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr17:11572800G>A uc002gne.3 + 16 3110 c.3042G>A c.(3040-3042)tcG>tcA p.S1014S DNAH9_uc010coo.3_Silent_p.S308S NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA. 1014 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) GCCAGTATTCGTACCTCTATG 0.522000 46 6 0 0 0.000157383 0 0 abParts 0 broad.mit.edu 37 14 107062360 107062360 + RNA SNP A G G TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr14:107062360A>G uc021ser.1 - 150 c.6626T>C Parts of antibodies, mostly variable regions. GACAGCGCAGATGAGGGACAG 0.612000 42 5 0 0 0.000157383 0 0 MYO5B 4645 broad.mit.edu 37 18 47363917 47363917 + Missense_Mutation SNP A G G rs138128932 by1000genomes TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr18:47363917A>G uc002leb.2 - 36 5396 c.5108T>C c.(5107-5109)gTc>gCc p.V1703A MYO5B_uc002ldz.3_Missense_Mutation_p.V273A|MYO5B_uc002lea.2_Missense_Mutation_p.V818A NM_001080467 NP_001073936 Q9ULV0 MYO5B_HUMAN Homo sapiens myosin VB (MYO5B), mRNA. 1703 Dilute. protein transport myosin complex ATP binding|actin binding|calmodulin binding|motor activity p.V1703A(10) NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) CCAAGAGCAGACGTCCTTCCG 0.527000 32 5 0 0 8.12818e-05 0 0 DSCAM 1826 broad.mit.edu 37 21 41450683 41450683 + Missense_Mutation SNP T A A TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr21:41450683T>A uc002yyq.1 - 25 5094 c.4642A>T c.(4642-4644)Atg>Ttg p.M1548L DSCAM_uc002yyr.1_Non-coding_Transcript NM_001389 NP_001380 O60469 DSCAM_HUMAN Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA. 1548 Fibronectin type-III 6. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) CACACCCGCATCTGCAGCTCA 0.582000 27 12 0 0 0.000151284 0 0 GLRA4 441509 broad.mit.edu 37 X 102968473 102968473 + Missense_Mutation SNP C T T TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chrX:102968473C>T uc011mse.2 - 7 1479 c.1058G>A c.(1057-1059)cGa>cAa p.R353Q TMEM31_uc004elh.3_Intron NM_001024452 NP_001019623 Q5JXX5 GLRA4_HUMAN Homo sapiens glycine receptor, alpha 4 (GLRA4), transcript variant 1, mRNA. 353 cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 CTGCCTTCTTCGAAGTCGTAT 0.517000 32 35 0 0 0.000159656 0 0 ELAVL4 1996 broad.mit.edu 37 1 50659525 50659525 + Missense_Mutation SNP T C C TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr1:50659525T>C uc001csb.2 + 3 711 c.443T>C c.(442-444)cTg>cCg p.L148P ELAVL4_uc001cry.3_Missense_Mutation_p.L151P|ELAVL4_uc001crz.3_Missense_Mutation_p.L148P|ELAVL4_uc001csa.3_Missense_Mutation_p.L165P|ELAVL4_uc001csc.3_Missense_Mutation_p.L148P|ELAVL4_uc009vyu.3_Missense_Mutation_p.L153P|ELAVL4_uc010omz.2_Missense_Mutation_p.L153P NM_021952 NP_068771 P26378 ELAV4_HUMAN Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D) (ELAVL4), transcript variant 1, mRNA. 148 RRM 2. mRNA processing AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 32 CAGAAGGAACTGGAGCAACTT 0.468000 11 4 0 0 0.00024832 0 0 TTN 7273 broad.mit.edu 37 2 179640610 179640610 + Missense_Mutation SNP G A A TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr2:179640610G>A uc021vsy.1 - 27 6206 c.5981C>T c.(5980-5982)tCg>tTg p.S1994L TTN_uc021vsz.1_Missense_Mutation_p.S1948L|TTN_uc021vta.1_Missense_Mutation_p.S1948L|TTN_uc021vtb.1_Missense_Mutation_p.S1948L|TTN_uc002unb.2_Missense_Mutation_p.S1994L|AK123298_uc002unc.1_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 1994 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CAGCTCTTCCGACTCTTCAGG 0.438000 9 7 0 0 0.000157383 0 0 SLC17A7 57030 broad.mit.edu 37 19 49933928 49933928 + Missense_Mutation SNP C T T rs145455204 TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr19:49933928C>T uc002pnp.3 - 11 1703 c.1531G>A c.(1531-1533)Gtt>Att p.V511I SLC17A7_uc002pno.3_Missense_Mutation_p.V173I NM_020309 NP_064705 Q9P2U7 VGLU1_HUMAN Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 7 (SLC17A7), mRNA. 511 glutamate secretion|neurotransmitter secretion cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1) 26 all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245) TCATGGCCAACGAAGCCACAC 0.632000 13 44 0 0 0.000125731 0 0 DENND1C 79958 broad.mit.edu 37 19 6477464 6477464 + Silent SNP G C C TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr19:6477464G>C uc002mfe.3 - 6 464 c.372C>G c.(370-372)acC>acG p.T124T DENND1C_uc002mfb.3_5'Flank|DENND1C_uc002mfc.3_5'Flank|DENND1C_uc002mfd.3_5'UTR|DENND1C_uc010xje.2_Silent_p.T80T NM_024898 NP_079174 Q8IV53 DEN1C_HUMAN Homo sapiens DENN/MADD domain containing 1C (DENND1C), mRNA. 124 DENN. clathrin-coated vesicle|cytosol guanyl-nucleotide exchange factor activity endometrium(3)|kidney(3)|large_intestine(1)|lung(3) 10 CCTCTGCCTCGGTGACCTGGG 0.617000 20 5 0 0 8.12818e-05 0 0 ADAMTS10 81794 broad.mit.edu 37 19 8662006 8662006 + Missense_Mutation SNP T C C TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr19:8662006T>C uc002mkj.1 - 7 1179 c.905A>G c.(904-906)gAg>gGg p.E302G ADAMTS10_uc002mkk.1_5'UTR NM_030957 NP_112219 Q9H324 ATS10_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA. 302 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1) 53 GTGGGTGATCTCCAGAGTGGG 0.592000 79 28 0 0 0.000339439 0 0 ITGAM 3684 broad.mit.edu 37 16 31284753 31284753 + Missense_Mutation SNP G A A TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr16:31284753G>A uc002ebr.3 + 7 870 c.772G>A c.(772-774)Gat>Aat p.D258N ITGAM_uc002ebq.3_Missense_Mutation_p.D258N|ITGAM_uc010cam.1_5'Flank NM_001145808 NP_001139280 P11215 ITAM_HUMAN Homo sapiens integrin, alpha M (complement component 3 receptor 3 subunit) (ITGAM), transcript variant 1, mRNA. 258 VWFA. blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration integrin complex glycoprotein binding|receptor activity endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1) 56 TGTCATCACGGATGGAGAAAA 0.498000 28 14 0 0 0.000219431 0 0 LOC100499466 100499466 broad.mit.edu 37 17 66130838 66130838 + RNA SNP G A A TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr17:66130838G>A uc002jgq.3 + 5 c.9961G>A Homo sapiens uncharacterized LOC100499466 (LOC100499466), non-coding RNA. CTGGTCTAGGGGCGGCATGCT 0.577000 11 5 0 0 1.23904e-05 0 0 PES1 23481 broad.mit.edu 37 22 30984115 30984115 + Missense_Mutation SNP T C C TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr22:30984115T>C uc003aij.2 - 2 258 c.151A>G c.(151-153)Aag>Gag p.K51E PES1_uc003aik.2_Missense_Mutation_p.K51E|PES1_uc003aio.1_5'UTR|PES1_uc003ain.1_5'UTR NM_014303 NP_055118 O00541 PESC_HUMAN Homo sapiens pescadillo homolog 1, containing BRCT domain (zebrafish) (PES1), transcript variant 1, mRNA. 51 Required for 28S ribosomal RNA processing.|Sufficient for nucleolar localization. cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle PeBoW complex|chromosome|nucleoplasm|preribosome, large subunit precursor protein binding breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 29 ACCTTCTTCTTGTGTTTGGGT 0.478000 62 42 0 0 0.000147903 0 0 ACBD4 79777 broad.mit.edu 37 17 43215194 43215194 + Missense_Mutation SNP G C C TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr17:43215194G>C uc002iid.2 + 6 914 c.570G>C c.(568-570)gaG>gaC p.E190D ACBD4_uc010wjj.2_Missense_Mutation_p.S203T|ACBD4_uc002iie.3_Missense_Mutation_p.S203T|ACBD4_uc002iif.3_Missense_Mutation_p.E190D|ACBD4_uc002iic.3_Missense_Mutation_p.E190D|ACBD4_uc010dae.3_Missense_Mutation_p.S125T NM_001135707 NP_001129179 Q8NC06 ACBD4_HUMAN Homo sapiens acyl-CoA binding domain containing 4 (ACBD4), transcript variant 5, mRNA. 190 fatty-acyl-CoA binding kidney(1)|lung(3)|ovary(1) 5 TGGAGCCTGAGCTGGTGAGCC 0.597000 173 28 0 0 0.000279167 0 0 RASSF8 11228 broad.mit.edu 37 12 26217544 26217544 + Missense_Mutation SNP G A A TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr12:26217544G>A uc001rgx.3 + 2 443 c.217G>A c.(217-219)Gtg>Atg p.V73M RASSF8_uc001rgy.3_Missense_Mutation_p.V73M|RASSF8_uc001rgz.3_Missense_Mutation_p.V73M|RASSF8_uc009zjd.2_Missense_Mutation_p.V73M|RASSF8_uc009zje.2_Missense_Mutation_p.V73M NM_001164748 NP_001158220 Q8NHQ8 RASF8_HUMAN Homo sapiens Ras association (RalGDS/AF-6) domain family (N-terminal) member 8 (RASSF8), transcript variant 3, mRNA. 73 Ras-associating. signal transduction cervix(2)|endometrium(1)|large_intestine(6)|lung(15)|urinary_tract(1) 25 Colorectal(261;0.0847) TGCTAGTGATGTGCAGCTCAT 0.453000 27 14 0 0 0.000422831 0 0 NNMT 4837 broad.mit.edu 37 11 114182786 114182786 + Nonsense_Mutation SNP G T T TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr11:114182786G>T uc001por.1 + 4 646 c.382G>T c.(382-384)Gag>Tag p.E128* NNMT_uc001pos.1_Nonsense_Mutation_p.E128* NM_006169 NP_006160 P40261 NNMT_HUMAN Homo sapiens nicotinamide N-methyltransferase (NNMT), mRNA. 128 xenobiotic metabolic process cytosol nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906) BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128) Niacin(DB00627) TCCAGAGAAGGAGGAGAAGTT 0.547000 32 59 2.53126e-37 8.46946e-36 0.000147903 1 0 SON 6651 broad.mit.edu 37 21 34923346 34923346 + Silent SNP T C C TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr21:34923346T>C uc002yse.1 + 2 1858 c.1809T>C c.(1807-1809)gcT>gcC p.A603A SON_uc002ysb.1_Silent_p.A603A|SON_uc002ysc.3_Silent_p.A603A|SON_uc002ysd.3_5'UTR|SON_uc002ysf.1_Intron|SON_uc021win.1_Silent_p.A249A|SON_uc002ysg.3_5'Flank NM_138927 NP_620305 P18583 SON_HUMAN Homo sapiens SON DNA binding protein (SON), transcript variant f, mRNA. 603 RNA splicing|anti-apoptosis|cytokinesis|mRNA processing|regulation of RNA splicing|regulation of cell cycle|spindle pole body separation nuclear speck DNA binding|double-stranded RNA binding breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 TCATGGCAGCTGGGGCACTGG 0.657000 58 29 0 0 8.91981e-05 0 0 CASS4 57091 broad.mit.edu 37 20 55033678 55033678 + Missense_Mutation SNP G T T TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr20:55033678G>T uc002xxp.2 + 6 2461 c.2236G>T c.(2236-2238)Gac>Tac p.D746Y CASS4_uc010zze.1_Missense_Mutation_p.D692Y|CASS4_uc002xxr.2_Missense_Mutation_p.D746Y|CASS4_uc010gio.2_Missense_Mutation_p.D309Y NM_001164116 NP_065089 Q9NQ75 CASS4_HUMAN Homo sapiens Cas scaffolding protein family member 4 (CASS4), transcript variant 1, mRNA. 746 cell adhesion cytoplasm|cytoskeleton|focal adhesion two-component sensor activity breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 54 CCTGCTCAAGGACGTAGCGCT 0.652000 21 12 2.27111e-07 6.53869e-06 0.00010058 1 0 MAP7D2 256714 broad.mit.edu 37 X 20134870 20134870 + Missense_Mutation SNP T G G TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chrX:20134870T>G uc010nfo.2 - 0 245 c.128A>C c.(127-129)cAa>cCa p.Q43P MAP7D2_uc011mji.2_5'Flank|MAP7D2_uc004czr.2_Missense_Mutation_p.Q43P|MAP7D2_uc011mjj.2_Missense_Mutation_p.Q43P NM_001168465 NP_001161937 Q96T17 MA7D2_HUMAN Homo sapiens MAP7 domain containing 2 (MAP7D2), transcript variant 1, mRNA. 43 NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 37 GATAATACCTTGAGGCCGGTA 0.711000 35 13 0 0 5.01169e-05 0 0 TAS2R38 5726 broad.mit.edu 37 7 141672894 141672894 + Missense_Mutation SNP T C C TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr7:141672894T>C uc003vwx.1 - 0 680 c.596A>G c.(595-597)tAt>tGt p.Y199C NM_176817 NP_789787 P59533 T2R38_HUMAN Homo sapiens taste receptor, type 2, member 38 (TAS2R38), mRNA. 199 sensory perception of taste integral to membrane G-protein coupled receptor activity NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1) 21 Melanoma(164;0.0171) AGACCACAGATAGCAGAAGAG 0.423000 14 11 0 0 6.40141e-05 0 0 NFAM1 150372 broad.mit.edu 37 22 42805442 42805442 + Splice_Site SNP T A A TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr22:42805442T>A uc003bcn.4 - 3 602 c.564_splice c.e3+1 p.K188_splice NM_145912 NP_666017 Q8NET5 NFAM1_HUMAN Homo sapiens NFAT activating protein with ITAM motif 1 (NFAM1), mRNA. 188 B cell differentiation|inflammatory response|intracellular signal transduction|positive regulation of B cell receptor signaling pathway|positive regulation of cytokine production|positive regulation of sequence-specific DNA binding transcription factor activity integral to membrane|intracellular|plasma membrane transmembrane receptor activity large_intestine(1)|lung(3) 4 ATCCCGTACCTTGTTCCAGAG 0.667000 125 7 0 0 0.000274275 0 0 NPTX2 4885 broad.mit.edu 37 7 98256538 98256538 + Missense_Mutation SNP C T T TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr7:98256538C>T uc003upl.2 + 3 1127 c.950C>T c.(949-951)aCg>aTg p.T317M NM_002523 NP_002514 P47972 NPTX2_HUMAN Homo sapiens neuronal pentraxin II (NPTX2), mRNA. 317 Pentaxin. synaptic transmission extracellular region metal ion binding|sugar binding breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 18 all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142) STAD - Stomach adenocarcinoma(171;0.215) GTCACCTGGACGACACGGGAT 0.642000 63 10 0 0 6.40141e-05 0 0 PPTC7 160760 broad.mit.edu 37 12 110977692 110977692 + Missense_Mutation SNP C T T TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr12:110977692C>T uc001trh.1 - 3 889 c.661G>A c.(661-663)Gca>Aca p.A221T NM_139283 NP_644812 Q8NI37 PPTC7_HUMAN Homo sapiens PTC7 protein phosphatase homolog (S. cerevisiae) (PPTC7), mRNA. 221 PP2C-like. metal ion binding|phosphoprotein phosphatase activity endometrium(1)|large_intestine(2)|lung(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 9 CCATCTGTTGCCGTCAGGATA 0.448000 57 9 0 0 2.17888e-05 0 0 ODF1 4956 broad.mit.edu 37 8 103572783 103572783 + Nonsense_Mutation SNP C T T TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr8:103572783C>T uc003ykt.2 + 1 532 c.424C>T c.(424-426)Cga>Tga p.R142* NM_024410 NP_077721 Q14990 ODFP1_HUMAN Homo sapiens outer dense fiber of sperm tails 1 (ODF1), mRNA. 142 cell differentiation|multicellular organismal development|spermatogenesis outer dense fiber structural molecule activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 20 all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826) AGTCAAAGTTCGAGTGAAGGA 0.448000 34 22 0 0 0.000375601 0 0 LRIG3 121227 broad.mit.edu 37 12 59268354 59268354 + Splice_Site SNP C T T TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr12:59268354C>T uc001sqr.3 - 17 2942 c.2696_splice c.e17-1 p.G899_splice LRIG3_uc009zqh.3_Splice_Site_p.G839_splice|LRIG3_uc010ssh.2_Splice_Site NM_153377 NP_700356 Q6UXM1 LRIG3_HUMAN Homo sapiens leucine-rich repeats and immunoglobulin-like domains 3 (LRIG3), transcript variant 2, mRNA. 899 integral to membrane LRIG3/ROS1(2) breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 GBM - Glioblastoma multiforme(1;1.17e-18) TATGGCAGGTCCCTTTGAAAC 0.403000 T ROS1 NSCLC 150 87 0 0 0.000147903 0 0 NOTCH4 4855 broad.mit.edu 37 6 32166871 32166872 + Missense_Mutation DNP CC AA AA TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr6:32166871_32166872CC>AA uc003obb.3 - 23 4505_4506 c.4366_4367GG>TT c.(4366-4368)ggg>TTg p.G1456L NOTCH4_uc011dpt.2_5'Flank|NOTCH4_uc003oba.3_Missense_Mutation_p.G119L|NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript|NOTCH4_uc011dpw.1_5'Flank NM_004557 NP_004548 Q99466 NOTC4_HUMAN Homo sapiens notch 4 (NOTCH4), mRNA. 1456 Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 GAGAATCACCCCGGCCACTGGG 0.639000 199 10 0 0 6.4e-05 0 0 KBTBD12 166348 broad.mit.edu 37 3 127682078 127682078 + Frame_Shift_Del DEL C - - TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr3:127682078delC uc010hsr.3 + 3 1542 c.1539delC c.(1537-1539)tgcfs p.C513fs KBTBD12_uc003ejy.4_Frame_Shift_Del_p.C120fs|KBTBD12_uc010hsq.3_Non-coding_Transcript|KBTBD12_uc003eka.4_Frame_Shift_Del_p.C88fs|5S_rRNA_uc021xdi.1_5'Flank NM_207335 NP_997218 Q3ZCT8 KBTBC_HUMAN Homo sapiens kelch repeat and BTB (POZ) domain containing 12 (KBTBD12), mRNA. 513 endometrium(1)|large_intestine(6)|lung(5)|ovary(1) 13 TTCGAAAATGCCTTGACGTGG 0.522 --- 4 --- --- 2 --- NAALADL2 254827 broad.mit.edu 37 3 175473198 175473198 + Frame_Shift_Del DEL T - - TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr3:175473198delT uc003fit.3 + 12 2268 c.2181delT c.(2179-2181)ggtfs p.G727fs NM_207015 NP_996898 Q58DX5 NADL2_HUMAN Homo sapiens N-acetylated alpha-linked acidic dipeptidase-like 2 (NAALADL2), mRNA. 727 proteolysis integral to membrane peptidase activity central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4) 49 Ovarian(172;0.0102) all_cancers(1;0.0272)|all_epithelial(1;0.0553) OV - Ovarian serous cystadenocarcinoma(80;9.26e-28) Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284) CACCACCAGGTTTTTATAGGT 0.393 --- 4 --- --- 2 --- POLE 5426 broad.mit.edu 37 12 133220099 133220100 + Frame_Shift_Del DEL CA - - TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr12:133220099_133220100delCA uc001uks.1 - 33 4381_4382 c.4337_4338delTG c.(4336-4338)gtgfs p.V1446fs POLE_uc001ukq.1_5'Flank|POLE_uc001ukr.1_Frame_Shift_Del_p.V250fs|POLE_uc010tbq.1_Non-coding_Transcript|POLE_uc009zyu.1_Frame_Shift_Del_p.V1419fs NM_006231 NP_006222 Q07864 DPOE1_HUMAN Homo sapiens polymerase (DNA directed), epsilon (POLE), mRNA. 1446 DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm DNA binding|DNA-directed DNA polymerase activity|chromatin binding|nucleotide binding|protein binding|zinc ion binding NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 89 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) GTTTATTGACCACACACACACA 0.604 DNA polymerases (catalytic subunits) --- 427 --- --- 10 --- SPRED1 161742 broad.mit.edu 37 15 38643678 38643679 + Frame_Shift_Ins INS - A A TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr15:38643678_38643679insA uc001zka.4 + 6 1483_1484 c.1148_1149insA c.(1147-1149)tcafs p.S383fs NM_152594 NP_689807 Q7Z699 SPRE1_HUMAN Homo sapiens sprouty-related, EVH1 domain containing 1 (SPRED1), mRNA. 383 SPR. inactivation of MAPK activity|multicellular organismal development caveola|nucleus stem cell factor receptor binding kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244) ATGTCAGACTCAGAGGGAGATT 0.436 Legius syndrome --- 1 --- --- 13 --- PIGB 9488 broad.mit.edu 37 15 55631503 55631503 + Frame_Shift_Del DEL T - - TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr15:55631503delT uc002act.3 + 6 1149 c.833delT c.(832-834)attfs p.I278fs PIGB_uc010ugg.2_Frame_Shift_Del_p.I83fs NM_004855 NP_004846 Q92521 PIGB_HUMAN Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class B (PIGB), mRNA. 278 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane integral to membrane|intrinsic to endoplasmic reticulum membrane glycolipid mannosyltransferase activity endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1) 11 all cancers(107;0.0255) ATTGATCGTATTTTTTTTGGC 0.284 --- 6 --- --- 3 --- CDC27 996 broad.mit.edu 37 17 45247389 45247389 + Frame_Shift_Del DEL T - - TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fc0661b-2941-4418-99f2-8a1e8caa6201 61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa g.chr17:45247389delT uc002ile.4 - 3 398 c.271delA c.(271-273)atcfs p.I91fs CDC27_uc002ild.4_Frame_Shift_Del_p.I91fs|CDC27_uc002ilf.4_Frame_Shift_Del_p.I91fs|CDC27_uc010wkp.2_Frame_Shift_Del_p.I30fs|CDC27_uc010wkq.1_Non-coding_Transcript NM_001114091 NP_001107563 P30260 CDC27_HUMAN Homo sapiens cell division cycle 27 homolog (S. cerevisiae) (CDC27), transcript variant 1, mRNA. 91 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding p.I91fs*54(2) NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2) 90 CCAGATAAGATTTGTTCCCCT 0.323 --- 221 --- --- 13 ---