Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut MEGF6 1953 broad.mit.edu 37 1 3418372 3418372 + Missense_Mutation SNP C C A TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chr1:3418372C>A ENST00000356575.4 - 18 2528 c.2302G>T c.(2302-2304)Gac>Tac p.D768Y MEGF6_ENST00000294599.4_Missense_Mutation_p.D663Y NM_001409.3 NP_001400.3 O75095 MEGF6_HUMAN multiple EGF-like-domains 6 768 EGF-like 12. extracellular region calcium ion binding cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105) all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211) Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213) GCCTCACAGTCTTCCCCAGTC 0.711000 12 22 6.40141e-05 6.90348e-05 1 1 0 KIF2B 84643 broad.mit.edu 37 17 51901710 51901710 + Missense_Mutation SNP T T G TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chr17:51901710T>G ENST00000268919.4 + 1 1472 c.1316T>G c.(1315-1317)aTg>aGg p.M439R NM_032559.4 NP_115948.4 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 439 Kinesin-motor. blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 GGACGGATAATGCATGGCAAG 0.507000 10 42 0 0 1 0 0 OR10A6 390093 broad.mit.edu 37 11 7950117 7950117 + Silent SNP G G A TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chr11:7950117G>A ENST00000309838.2 - 1 92 c.93C>T c.(91-93)ttC>ttT p.F31F NM_001004461.1 NP_001004461.1 Q8NH74 O10A6_HUMAN olfactory receptor, family 10, subfamily A, member 6 31 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 22 Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) AAATAACCAGGAAAGCCACAA 0.448000 86 26 0 0 1 0 0 RUNX2 860 broad.mit.edu 37 6 45390466 45390466 + Silent SNP A A G TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chr6:45390466A>G ENST00000371438.1 + 2 553 c.195A>G c.(193-195)caA>caG p.Q65Q RUNX2_ENST00000352853.5_Silent_p.Q133Q|RUNX2_ENST00000541979.1_Silent_p.Q133Q|RUNX2_ENST00000465038.2_Silent_p.Q65Q|RUNX2_ENST00000576263.1_Silent_p.Q65Q|RUNX2_ENST00000371432.3_Silent_p.Q51Q|RUNX2_ENST00000371436.6_Silent_p.Q65Q|RUNX2_ENST00000359524.5_Silent_p.Q51Q NM_001024630.3 NP_001019801.3 Q13950 RUNX2_HUMAN runt-related transcription factor 2 65 Poly-Gln. negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 agcagcagcaacagcagcagc 0.731000 3 36 0 0 1 0 0 PPFIA2 8499 broad.mit.edu 37 12 81657012 81657012 + Missense_Mutation SNP T T A TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chr12:81657012T>A ENST00000550584.2 - 30 4008 c.3713A>T c.(3712-3714)gAt>gTt p.D1238V PPFIA2_ENST00000548586.1_Missense_Mutation_p.D1232V|PPFIA2_ENST00000541570.2_Missense_Mutation_p.D774V|PPFIA2_ENST00000549396.1_Missense_Mutation_p.D1238V|PPFIA2_ENST00000550359.2_Missense_Mutation_p.D1085V|PPFIA2_ENST00000443686.3_Missense_Mutation_p.D1133V|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000541017.1_Missense_Mutation_p.D424V|PPFIA2_ENST00000407050.4_Missense_Mutation_p.D1137V|PPFIA2_ENST00000552948.1_Missense_Mutation_p.D1217V|PPFIA2_ENST00000333447.7_Missense_Mutation_p.D1226V|PPFIA2_ENST00000549325.1_Missense_Mutation_p.D1223V NM_001220473.1 NP_001207402.1 B7Z663 B7Z663_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 1137 NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5) 85 TACTGTACCATCTGTTGTCAT 0.398000 3 5 0 0 1 0 0 KDM6B 23135 broad.mit.edu 37 17 7751444 7751444 + Missense_Mutation SNP C C T TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chr17:7751444C>T ENST00000254846.5 + 11 2227 c.1838C>T c.(1837-1839)tCc>tTc p.S613F KDM6B_ENST00000448097.2_Missense_Mutation_p.S613F NM_001080424.1 NP_001073893.1 O15054 KDM6B_HUMAN lysine (K)-specific demethylase 6B 613 Pro-rich. inflammatory response nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5) 37 CCTCCTTCCTCCTGCCACCAA 0.677000 5 89 0 0 1 0 0 NCKAP1L 3071 broad.mit.edu 37 12 54914489 54914489 + Missense_Mutation SNP G G A TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chr12:54914489G>A ENST00000293373.6 + 17 1716 c.1637G>A c.(1636-1638)cGt>cAt p.R546H NCKAP1L_ENST00000545638.2_Missense_Mutation_p.R496H NM_005337.4 NP_005328.2 P55160 NCKPL_HUMAN NCK-associated protein 1-like 546 actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis cytosol|integral to plasma membrane|membrane fraction|SCAR complex protein complex binding|protein kinase activator activity|Rac GTPase activator activity NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2) 80 TTTCATCTTCGTATCTTTGAG 0.393000 35 75 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577120 7577120 + Missense_Mutation SNP C C T rs28934576 by1000genomes TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chr17:7577120C>T ENST00000420246.2 - 8 950 c.818G>A c.(817-819)cGt>cAt p.R273H TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000269305.4_Missense_Mutation_p.R273H|TP53_ENST00000359597.4_Missense_Mutation_p.R273H NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 273 Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity). R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GGCACAAACACGCACCTCAAA 0.542000 R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM) 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 24 8 0 0 1 0 0 RHCG 51458 broad.mit.edu 37 15 90023572 90023572 + Missense_Mutation SNP C C T rs149510924 by1000genomes TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chr15:90023572C>T ENST00000268122.4 - 4 658 c.590G>A c.(589-591)cGg>cAg p.R197Q RHCG_ENST00000544600.1_Missense_Mutation_p.R197Q NM_016321.1 NP_057405.1 Q9UBD6 RHCG_HUMAN Rh family, C glycoprotein 197 amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding p.R197L(1)|p.R197Q(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Lung NSC(78;0.0237)|all_lung(78;0.0478) GTAGAGGATCCGGGTCACTGT 0.557000 56 26 0 0 1 0 0 LHFP 10186 broad.mit.edu 37 13 40175117 40175117 + Silent SNP G G A TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chr13:40175117G>A ENST00000379589.3 - 2 699 c.237C>T c.(235-237)agC>agT p.S79S NM_005780.2 NP_005771.1 Q9Y693 LHFP_HUMAN lipoma HMGIC fusion partner 79 integral to membrane DNA binding HMGA2/LHFP(2) breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(6)|prostate(2) 13 Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114) OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105) TCCATTCTGCGCTGGGGATGC 0.597000 T HMGA2 lipoma 144 47 0 0 1 0 0 CYP11B2 1585 broad.mit.edu 37 8 143996607 143996607 + Silent SNP C C A TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chr8:143996607C>A ENST00000323110.2 - 3 452 c.450G>T c.(448-450)tcG>tcT p.S150S NM_000498.3 NP_000489.3 P19099 C11B2_HUMAN cytochrome P450, family 11, subfamily B, polypeptide 2 150 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3) 39 all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Candesartan(DB00796)|Metyrapone(DB01011) CGGCCTTGGGCGACAGCACAT 0.637000 Familial Hyperaldosteronism type I 7 71 8.12818e-05 8.68059e-05 1 1 0 HIVEP2 3097 broad.mit.edu 37 6 143091566 143091566 + Missense_Mutation SNP C C T TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chr6:143091566C>T ENST00000367603.2 - 5 5052 c.4310G>A c.(4309-4311)gGt>gAt p.G1437D HIVEP2_ENST00000367604.1_Missense_Mutation_p.G1437D|HIVEP2_ENST00000012134.2_Missense_Mutation_p.G1437D NM_006734.3 NP_006725.3 P31629 ZEP2_HUMAN human immunodeficiency virus type I enhancer binding protein 2 1437 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 100 OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102) TCGCTTGCTACCTCCCAGGGT 0.512000 26 33 0 0 1 0 0 KIAA1045 23349 broad.mit.edu 37 9 34978096 34978096 + Silent SNP G G A TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chr9:34978096G>A ENST00000242315.3 + 8 1273 c.1191G>A c.(1189-1191)aaG>aaA p.K397K KIAA1045_ENST00000476115.2_3'UTR|KIAA1045_ENST00000544237.1_Silent_p.K397K NM_015297.1 NP_056112.1 Q9UPV7 K1045_HUMAN KIAA1045 397 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) TTCACCTGAAGCCCCCAGGAT 0.557000 14 78 0 0 1 0 0 SS18L1 26039 broad.mit.edu 37 20 60736500 60736500 + Silent SNP G G A TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chr20:60736500G>A ENST00000331758.3 + 4 266 c.240G>A c.(238-240)acG>acA p.T80T SS18L1_ENST00000421564.1_Silent_p.T80T|SS18L1_ENST00000370848.4_Silent_p.T83T NM_198935.1 NP_945173.1 O75177 CREST_HUMAN synovial sarcoma translocation gene on chromosome 18-like 1 80 N-terminal auto-inhibitory domain; necessary for interaction with SMARCA4/BRG1 (By similarity). chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent condensed chromosome kinetochore SS18L1/SSX1(2) ovary(2)|skin(1) 3 Breast(26;3.97e-09) BRCA - Breast invasive adenocarcinoma(19;1.92e-08) AGCCGCCCACGCAGAACATGA 0.622000 T SSX1 synovial sarcoma 27 52 0 0 1 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803562 142803562 + RNA SNP G G A TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chr1:142803562G>A ENST00000423385.1 - 0 1403 TCTGCAGTCAGGTAAGATTTC 0.259000 5 158 0 0 1 0 0 SHOX 6473 broad.mit.edu 37 X 601571 601571 + Silent SNP C C A rs137852557 TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chrX:601571C>A ENST00000381578.1 + 4 1193 c.502C>A c.(502-504)Cgg>Agg p.R168R SHOX_ENST00000334060.3_Silent_p.R168R|SHOX_ENST00000554971.1_Silent_p.R168R|SHOX_ENST00000381575.1_Silent_p.R168R NM_000451.3 NP_000442.1 O15266 SHOX_HUMAN short stature homeobox 168 R -> W (in LMD). skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(3)|lung(9)|prostate(1) 13 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) GTTCCAGAACCGGAGAGCCAA 0.592000 5 74 0.0215528 0.0217505 1 1 0 BTNL2 56244 broad.mit.edu 37 6 32362585 32362585 + Missense_Mutation SNP G G T TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chr6:32362585G>T ENST00000454136.3 - 6 1300 c.1296C>A c.(1294-1296)gaC>gaA p.D432E BTNL2_ENST00000374993.1_Missense_Mutation_p.D432E|BTNL2_ENST00000414363.1_Missense_Mutation_p.D222E|BTNL2_ENST00000429232.2_3'UTR|BTNL2_ENST00000544175.1_Missense_Mutation_p.D155E|BTNL2_ENST00000540315.1_Missense_Mutation_p.D222E|BTNL2_ENST00000374995.3_Missense_Mutation_p.D338E Q9UIR0 BTNL2_HUMAN butyrophilin-like 2 (MHC class II associated) 432 integral to membrane p.D432D(1) central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1) 19 AACAAGTGACGTCCACAGCGG 0.498000 14 78 7.93312e-07 8.81458e-07 1 1 0 LNPEP 4012 broad.mit.edu 37 5 96360368 96360368 + Missense_Mutation SNP A A G TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chr5:96360368A>G ENST00000231368.5 + 15 3397 c.2705A>G c.(2704-2706)gAt>gGt p.D902G LNPEP_ENST00000395770.3_Missense_Mutation_p.D888G NM_005575.2 NP_005566.2 Q9UIQ6 LCAP_HUMAN leucyl/cystinyl aminopeptidase 902 cell-cell signaling|female pregnancy|proteolysis extracellular region|integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 34 all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244) COAD - Colon adenocarcinoma(37;0.072) AGCTCAGAGGATGTGCGGAAG 0.408000 11 20 0 0 1 0 0 SGSH 6448 broad.mit.edu 37 17 78184304 78184304 + Missense_Mutation SNP C C T TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chr17:78184304C>T ENST00000326317.6 - 8 1542 c.1456G>A c.(1456-1458)Gtc>Atc p.V486I SGSH_ENST00000534910.1_Missense_Mutation_p.V283I NM_000199.3 NP_000190.1 P51688 SPHM_HUMAN N-sulfoglucosamine sulfohydrolase 486 V -> F (in MPS3A). proteoglycan metabolic process lysosome metal ion binding|N-sulfoglucosamine sulfohydrolase activity|sulfuric ester hydrolase activity central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 all_neural(118;0.0952) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908) TCCTCCAGGACGCCGTCGGGG 0.652000 5 15 0 0 1 0 0 PTCHD4 442213 broad.mit.edu 37 6 47847228 47847228 + Missense_Mutation SNP C C T TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chr6:47847228C>T ENST00000339488.4 - 3 1385 c.1352G>A c.(1351-1353)cGt>cAt p.R451H NM_001013732.3 NP_001013754.3 Q6ZW05 CF138_HUMAN patched domain containing 4 451 integral to membrane hedgehog receptor activity ATAATGTTCACGGAGGAAGTG 0.448000 12 30 0 0 1 0 0 B4GALNT3 283358 broad.mit.edu 37 12 667810 667810 + Missense_Mutation SNP C C G TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chr12:667810C>G ENST00000266383.5 + 18 2757 c.2744C>G c.(2743-2745)aCc>aGc p.T915S NM_173593.3 NP_775864.3 Q6L9W6 B4GN3_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 3 915 Golgi cisterna membrane|integral to membrane N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215) OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262) TGTGGGGCCACCCCCCAGTGG 0.567000 9 30 0 0 1 0 0 ANXA10 11199 broad.mit.edu 37 4 169049237 169049237 + Silent SNP G G A TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chr4:169049237G>A ENST00000359299.3 + 2 207 c.21G>A c.(19-21)gtG>gtA p.V7V NM_007193.4 NP_009124.2 Q9UJ72 ANX10_HUMAN annexin A10 7 calcium ion binding|calcium-dependent phospholipid binding endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2) 16 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0325) CCCACCAGGTGCAAGGAACCA 0.433000 10 15 0 0 1 0 0 KIAA1211 57482 broad.mit.edu 37 4 57193840 57193840 + Missense_Mutation SNP C C T TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chr4:57193840C>T ENST00000504228.1 + 9 3677 c.3572C>T c.(3571-3573)cCg>cTg p.P1191L KIAA1211_ENST00000541073.1_Missense_Mutation_p.P1184L|KIAA1211_ENST00000264229.6_Missense_Mutation_p.P1191L Q6ZU35 K1211_HUMAN KIAA1211 1191 endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1) 65 Glioma(25;0.08)|all_neural(26;0.101) CCCCCAGCGCCGCTGGTAAAA 0.483000 61 76 0 0 1 0 0 C1orf177 163747 broad.mit.edu 37 1 55277787 55277787 + Silent SNP C C A TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chr1:55277787C>A ENST00000358193.3 + 6 741 c.687C>A c.(685-687)gtC>gtA p.V229V C1orf177_ENST00000371273.3_Silent_p.V229V NM_152607.2 NP_689820.2 Q3ZCV2 CA177_HUMAN chromosome 1 open reading frame 177 229 breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2) 17 CACGATCCGTCGGCACCCGCG 0.587000 20 67 5.03518e-11 5.76948e-11 1 1 0 OR5D14 219436 broad.mit.edu 37 11 55563417 55563417 + Missense_Mutation SNP G G A TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chr11:55563417G>A ENST00000335605.1 + 1 386 c.386G>A c.(385-387)tGc>tAc p.C129Y NM_001004735.1 NP_001004735.1 Q8NGL3 OR5DE_HUMAN olfactory receptor, family 5, subfamily D, member 14 129 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1) 48 all_epithelial(135;0.196) GTGGCCATCTGCAATCCTCTG 0.532000 7 50 0 0 1 0 0 KDELR2 0 broad.mit.edu 37 7 6509337 6509337 + Missense_Mutation SNP T T G TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chr7:6509337T>G ENST00000258739.4 - 3 425 c.241A>C c.(241-243)Aaa>Caa p.K81Q KDELR2_ENST00000490996.1_Missense_Mutation_p.K81Q|DAGLB_ENST00000436575.1_Intron|KDELR2_ENST00000463747.1_Intron NM_006854.3 NP_006845.1 P33947 ERD22_HUMAN KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2 81 intracellular protein transport|protein retention in ER lumen|vesicle-mediated transport endoplasmic reticulum membrane|Golgi apparatus|integral to membrane KDEL sequence binding|protein binding|receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1) 10 Ovarian(82;0.0776) UCEC - Uterine corpus endometrioid carcinoma (126;0.101) GCCTTAAATTTCAGGTAGATC 0.443000 21 66 0 0 1 0 0 SERPINB9 5272 broad.mit.edu 37 6 2893765 2893765 + Silent SNP C C T TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chr6:2893765C>T ENST00000380698.4 - 5 536 c.447G>A c.(445-447)ccG>ccA p.P149P NM_004155.5 NP_004146.1 P50453 SPB9_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 9 149 anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis cytosol|extracellular space|nucleus caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1) 15 Ovarian(93;0.0412) all_hematologic(90;0.108) TTGAGCTACCCGGCAACAACT 0.393000 39 13 0 0 1 0 0 CD1D 912 broad.mit.edu 37 1 158152703 158152703 + Missense_Mutation SNP C C A TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chr1:158152703C>A ENST00000368171.3 + 5 1142 c.643C>A c.(643-645)Cct>Act p.P215T NM_001766.3 NP_001757.1 P15813 CD1D_HUMAN CD1d molecule 215 Ig-like. antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection endosome membrane|integral to plasma membrane|lysosomal membrane beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2) 30 all_hematologic(112;0.0378) TGGCCCCAGTCCTGGCCCTGG 0.592000 20 65 1.01871e-10 1.15524e-10 1 1 0 LRRC4B 94030 broad.mit.edu 37 19 51022478 51022478 + Nonsense_Mutation SNP C C T TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chr19:51022478C>T ENST00000599957.1 - 3 689 c.492G>A c.(490-492)tgG>tgA p.W164* LRRC4B_ENST00000389201.3_Nonsense_Mutation_p.W164* Q9NT99 LRC4B_HUMAN leucine rich repeat containing 4B 164 cell junction|integral to membrane|presynaptic membrane breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1) 30 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188) TGTTCCGCAGCCAGAGCTCCC 0.652000 40 53 0 0 1 0 0 FAM49A 81553 broad.mit.edu 37 2 16742751 16742751 + Silent SNP G G T TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chr2:16742751G>T ENST00000381323.3 - 7 706 c.486C>A c.(484-486)atC>atA p.I162I FAM49A_ENST00000406434.1_Silent_p.I162I|FAM49A_ENST00000355549.2_Silent_p.I162I NM_030797.3 NP_110424.1 Q9H0Q0 FA49A_HUMAN family with sequence similarity 49, member A 162 intracellular breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088) GBM - Glioblastoma multiforme(3;0.00969) GGTTGCGACTGATTGTTCTTC 0.493000 9 42 0.000978159 0.00100558 1 1 0 MT-RNR2 0 broad.mit.edu 37 MT 2113 2113 + RNA SNP G G A TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chrM:2113G>A ENST00000387347.2 + 0 443 NR_039705.1 CAAAGAGGAACAGCTCTTTGG 0.383000 69 7 0 0 1 0 0 SLC43A1 8501 broad.mit.edu 37 11 57281459 57281459 + Missense_Mutation SNP G G C TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chr11:57281459G>C ENST00000278426.3 - 2 481 c.126C>G c.(124-126)aaC>aaG p.N42K SLC43A1_ENST00000528450.1_Missense_Mutation_p.N42K NM_003627.5 NP_003618.1 O75387 LAT3_HUMAN solute carrier family 43 (amino acid system L transporter), member 1 42 cellular nitrogen compound metabolic process|ion transport integral to plasma membrane neutral amino acid transmembrane transporter activity breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 19 AGAAGCCCTCGTTCTTCAGAA 0.597000 19 3 0 0 1 0 0 NDUFAF2 91942 broad.mit.edu 37 5 60241050 60241050 + Translation_Start_Site SNP G G A TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chr5:60241050G>A ENST00000296597.5 + 0 95 NDUFAF2_ENST00000511107.1_De_novo_Start_OutOfFrame NM_174889.4 NP_777549.1 Q8N183 MIMIT_HUMAN NADH dehydrogenase (ubiquinone) complex I, assembly factor 2 membrane|mitochondrion electron carrier activity|NADH dehydrogenase (ubiquinone) activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1) 6 Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237) TGCGGGTCCCGCTGCTGGCAG 0.632000 3 15 0 0 1 0 0 LARP4B 23185 broad.mit.edu 37 10 909780 909780 + Silent SNP G G A TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chr10:909780G>A ENST00000316157.3 - 4 373 c.333C>T c.(331-333)gcC>gcT p.A111A NM_015155.1 NP_055970.1 Q92615 LAR4B_HUMAN La ribonucleoprotein domain family, member 4B 111 nucleotide binding|RNA binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2) 38 CTGGCAATGCGGCATTCTCAT 0.507000 49 48 0 0 1 0 0 PYY 5697 broad.mit.edu 37 17 42030806 42030806 + Missense_Mutation SNP G G C TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chr17:42030806G>C ENST00000360085.2 - 5 586 c.46C>G c.(46-48)Ctg>Gtg p.L16V PYY_ENST00000592796.1_Missense_Mutation_p.L16V NM_004160.4 NP_004151.3 P10082 PYY_HUMAN peptide YY 16 cell proliferation|cell-cell signaling|cellular component movement|cytoskeleton organization|digestion|G-protein coupled receptor protein signaling pathway soluble fraction endometrium(1)|ovary(1) 2 Breast(137;0.00314)|Prostate(33;0.0724) BRCA - Breast invasive adenocarcinoma(366;0.12) AGCAGGGCCAGAAGCACTGTG 0.662000 4 22 0 0 1 0 0 MPHOSPH9 10198 broad.mit.edu 37 12 123703047 123703047 + Splice_Site SNP C C A TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chr12:123703047C>A ENST00000606320.1 - 6 1079 c.e6-1 MPHOSPH9_ENST00000541076.2_Splice_Site|MPHOSPH9_ENST00000302349.5_Splice_Site|MPHOSPH9_ENST00000392425.3_Splice_Site Q99550 MPP9_HUMAN M-phase phosphoprotein 9 M phase of mitotic cell cycle centriole|Golgi membrane NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1) 33 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169) TATAGCATTACTATTTAAGAA 0.398000 9 75 0.000673444 0.000698857 1 1 0 MARCH8 220972 broad.mit.edu 37 10 45954693 45954693 + Missense_Mutation SNP G G A TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chr10:45954693G>A ENST00000453424.2 - 7 1553 c.1292C>T c.(1291-1293)tCc>tTc p.S431F MARCH8_ENST00000395769.2_Missense_Mutation_p.S149F|MARCH8_ENST00000319836.3_Missense_Mutation_p.S149F|MARCH8_ENST00000395771.3_Missense_Mutation_p.S149F|MARCH8_ENST00000476962.1_5'UTR Q5T0T0 MARH8_HUMAN membrane-associated ring finger (C3HC4) 8, E3 ubiquitin protein ligase 149 cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosomal membrane ubiquitin-protein ligase activity|zinc ion binding endometrium(2)|kidney(1)|large_intestine(5)|lung(4) 12 GCGCTCGCTGGACGTCATCTG 0.532000 17 96 0 0 1 0 0 MKI67 4288 broad.mit.edu 37 10 129905831 129905831 + Missense_Mutation SNP C C T TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chr10:129905831C>T ENST00000368654.3 - 13 4648 c.4273G>A c.(4273-4275)Gga>Aga p.G1425R MKI67_ENST00000368653.3_Missense_Mutation_p.G1065R NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 1425 16 X 122 AA approximate repeats. cell proliferation nucleolus ATP binding|protein C-terminus binding NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) TCCTCACCTCCTGGTACTTTA 0.478000 6 246 0 0 1 0 0 SYNE3 161176 broad.mit.edu 37 14 95921744 95921744 + Silent SNP G G A TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chr14:95921744G>A ENST00000334258.5 - 5 1121 c.1107C>T c.(1105-1107)gaC>gaT p.D369D SYNE3_ENST00000554873.1_Silent_p.D126D|SYNE3_ENST00000557275.1_Silent_p.D369D|SYNE3_ENST00000553340.1_Silent_p.D369D NM_152592.3 NP_689805.3 spectrin repeat containing, nuclear envelope family member 3 breast(1)|endometrium(2)|lung(25) 28 CCACCAGCTCGTCCTCGGTCC 0.642000 8 29 0 0 1 0 0 AC226119.5 0 broad.mit.edu 37 4 3952899 3952899 + RNA SNP A A T rs17410906 TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chr4:3952899A>T ENST00000281228.8 - 0 208 FAM86EP_ENST00000313946.8_RNA AGCACCGGGCATACTTGACTG 0.557000 4 51 0 0 1 0 0 MT-ND5 4540 broad.mit.edu 37 MT 13608 13608 + Silent SNP T T C TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chrM:13608T>C ENST00000361567.2 + 1 1272 c.1272T>C c.(1270-1272)acT>acC p.T424T P03915 NU5M_HUMAN mitochondrially encoded NADH dehydrogenase 5 424 mitochondrial electron transport, NADH to ubiquinone|transport integral to membrane|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7) 74 NADH(DB00157) GCCTATAGCACTCGAATAATT 0.463000 53 88 0 0 1 0 0 RDH14 57665 broad.mit.edu 37 2 18736500 18736500 + Missense_Mutation SNP T T G TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chr2:18736500T>G ENST00000381249.3 - 2 1075 c.968A>C c.(967-969)aAa>aCa p.K323T RDH14_ENST00000468071.1_5'UTR NM_020905.3 NP_065956.1 retinol dehydrogenase 14 (all-trans/9-cis/11-cis) breast(2)|endometrium(1)|large_intestine(2)|lung(1) 6 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177) ATCCCAGAGTTTTCTTGCAAC 0.413000 33 71 0 0 1 0 0 HBA1 3039 broad.mit.edu 37 16 227404 227404 + Nonsense_Mutation SNP C C A rs121913128 TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chr16:227404C>A ENST00000320868.5 + 3 460 c.423C>A c.(421-423)taC>taA p.Y141* HBA1_ENST00000397797.1_Nonsense_Mutation_p.Y109* NM_000558.3 NP_000549.1 P69905 HBA_HUMAN hemoglobin, alpha 1 141 Y -> H (in Rouen/Ethiopia; O(2) affinity up). hydrogen peroxide catabolic process|positive regulation of cell death|protein heterooligomerization cytosolic small ribosomal subunit|haptoglobin-hemoglobin complex|hemoglobin complex heme binding|oxygen binding|oxygen transporter activity|protein binding lung(1) 1 all_cancers(16;2.03e-06)|all_epithelial(16;5.16e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0138)|all_lung(18;0.0306) Amodiaquine(DB00613)|Chloroquine(DB00608)|Iron Dextran(DB00893)|Mefloquine(DB00358)|Primaquine(DB01087)|Quinine(DB00468) CCTCCAAATACCGTTAAGCTG 0.647000 OREG0003687 type=REGULATORY REGION|Gene=SERPINB9|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 5 17 0.000602214 0.000630891 1 1 0 GRXCR1 389207 broad.mit.edu 37 4 42895339 42895339 + Missense_Mutation SNP G G A TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chr4:42895339G>A ENST00000399770.2 + 1 56 c.56G>A c.(55-57)cGg>cAg p.R19Q NM_001080476.2 NP_001073945.1 A8MXD5 GRCR1_HUMAN glutaredoxin, cysteine rich 1 19 cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development kinocilium|stereocilium electron carrier activity|protein disulfide oxidoreductase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1) 32 GTCCGGTTTCGGATCGCGTCC 0.512000 19 105 0 0 1 0 0 TRHR 7201 broad.mit.edu 37 8 110131681 110131681 + Missense_Mutation SNP T T A TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chr8:110131681T>A ENST00000518632.1 + 3 1545 c.1194T>A c.(1192-1194)agT>agA p.S398R TRHR_ENST00000311762.2_Missense_Mutation_p.S398R P34981 TRFR_HUMAN thyrotropin-releasing hormone receptor 398 integral to plasma membrane thyrotropin-releasing hormone receptor activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(57;2.3e-11) TTAGCCAAAGTTGATTCATGA 0.403000 12 80 0 0 1 0 0 ZNF792 126375 broad.mit.edu 37 19 35448925 35448925 + Missense_Mutation SNP G G C TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chr19:35448925G>C ENST00000404801.1 - 4 2220 c.1834C>G c.(1834-1836)Cag>Gag p.Q612E ZNF792_ENST00000605484.1_Missense_Mutation_p.Q545E NM_175872.4 NP_787068.3 Q3KQV3 ZN792_HUMAN zinc finger protein 792 612 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5) 12 all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) ACAGCGCCCTGATAAGGTCTG 0.488000 10 17 0 0 1 0 0 CNTN4 152330 broad.mit.edu 37 3 3076369 3076369 + Missense_Mutation SNP G G A TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chr3:3076369G>A ENST00000397461.1 + 16 2221 c.1837G>A c.(1837-1839)Gct>Act p.A613T CNTN4_ENST00000427331.1_Missense_Mutation_p.A613T|CNTN4_ENST00000418658.1_Missense_Mutation_p.A613T|CNTN4_ENST00000397459.2_Missense_Mutation_p.A285T|CNTN4_ENST00000448906.2_Missense_Mutation_p.A285T|CNTN4_ENST00000358480.3_Missense_Mutation_p.A394T NM_001206955.1 NP_001193884.1 Q8IWV2 CNTN4_HUMAN contactin 4 613 Fibronectin type-III 1. axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) AGATACCACTGCTCAGCTCTC 0.552000 25 38 0 0 1 0 0 CPA4 51200 broad.mit.edu 37 7 129950692 129950692 + Missense_Mutation SNP G G C TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chr7:129950692G>C ENST00000222482.4 + 9 887 c.859G>C c.(859-861)Gag>Cag p.E287Q CPA4_ENST00000493259.1_Missense_Mutation_p.E183Q|CPA4_ENST00000445470.2_Missense_Mutation_p.E254Q NM_016352.3 NP_057436.2 Q9UI42 CBPA4_HUMAN carboxypeptidase A4 287 histone acetylation|proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Melanoma(18;0.0435) TTCGGAAGTGGAGGTGAAATC 0.493000 26 71 0 0 1 0 0 DNM1P47 0 broad.mit.edu 37 15 102292797 102292797 + RNA SNP C C G TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chr15:102292797C>G ENST00000561463.1 + 0 843 p.P129A(2) GAGCTGCTGTCCAACCTGCAC 0.597000 3 37 0 0 1 0 0 TTLL6 284076 broad.mit.edu 37 17 46847315 46847315 + Nonsense_Mutation SNP G G A TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chr17:46847315G>A ENST00000393382.3 - 14 2326 c.2185C>T c.(2185-2187)Cag>Tag p.Q729* TTLL6_ENST00000433608.2_Nonsense_Mutation_p.Q422* NM_001130918.1 NP_001124390.1 Q8N841 TTLL6_HUMAN tubulin tyrosine ligase-like family, member 6 681 cilium|microtubule basal body ATP binding|tubulin binding|tubulin-tyrosine ligase activity endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2) 18 GGGGTCTGCTGCTTCTTGCAT 0.502000 11 105 0 0 1 0 0 SAMD4B 55095 broad.mit.edu 37 19 39868449 39868449 + Missense_Mutation SNP C C T TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chr19:39868449C>T ENST00000314471.6 + 10 2464 c.1429C>T c.(1429-1431)Cgg>Tgg p.R477W SAMD4B_ENST00000598913.1_Missense_Mutation_p.R477W|SAMD4B_ENST00000596368.1_Intron NM_018028.2 NP_060498.2 Q5PRF9 SMAG2_HUMAN sterile alpha motif domain containing 4B 477 protein binding autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2) 15 all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512) Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199) CCAGTTTACACGGGTGATGGG 0.592000 21 51 0 0 1 0 0 MTR 4548 broad.mit.edu 37 1 237016332 237016332 + Missense_Mutation SNP G G T TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chr1:237016332G>T ENST00000366577.5 + 18 2291 c.1897G>T c.(1897-1899)Gat>Tat p.D633Y MTR_ENST00000535889.1_Missense_Mutation_p.D633Y NM_000254.2 NP_000245.2 Q99707 METH_HUMAN 5-methyltetrahydrofolate-homocysteine methyltransferase 633 nervous system development|xenobiotic metabolic process cytosol cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 67 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117) OV - Ovarian serous cystadenocarcinoma(106;0.0106) KIRC - Kidney renal clear cell carcinoma(1967;0.248) Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116) GCTCTGTGAAGATCTCATCTG 0.438000 14 46 0.000219431 0.000232091 1 1 0 WDR43 23160 broad.mit.edu 37 2 29158461 29158461 + Silent SNP G G A TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chr2:29158461G>A ENST00000407426.3 + 12 1568 c.1512G>A c.(1510-1512)ccG>ccA p.P504P NM_015131.1 NP_055946.1 Q15061 WDR43_HUMAN WD repeat domain 43 504 nucleolus breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1) 20 Acute lymphoblastic leukemia(172;0.155) CTATTATTCCGTTGTTACAAG 0.323000 12 31 0 0 1 0 0 WDR72 256764 broad.mit.edu 37 15 53889416 53889416 + Missense_Mutation SNP C C A TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chr15:53889416C>A ENST00000396328.1 - 18 3247 c.3008G>T c.(3007-3009)aGt>aTt p.S1003I WDR72_ENST00000557913.1_Missense_Mutation_p.S1000I|WDR72_ENST00000360509.5_Missense_Mutation_p.S1003I|WDR72_ENST00000559418.1_Missense_Mutation_p.S1013I NM_001277176.1|NM_182758.2 NP_001264105.1|NP_877435.3 Q3MJ13 WDR72_HUMAN WD repeat domain 72 1003 NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 71 all cancers(107;0.0511) CTTTCCCAAACTCTTCATGTG 0.388000 15 67 5.01169e-05 5.45828e-05 1 1 0 RP11-24M17.5 0 broad.mit.edu 37 15 76074504 76074504 + RNA SNP C C T rs146281026 by1000genomes TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chr15:76074504C>T ENST00000395215.3 + 0 683 TGAACGCACACGTGACACAGG 0.572000 3 30 0 0 1 0 0 KCNJ12 3768 broad.mit.edu 37 17 21319329 21319329 + Silent SNP G G A TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chr17:21319329G>A ENST00000583088.1 + 3 1570 c.675G>A c.(673-675)gaG>gaA p.E225E KCNJ12_ENST00000331718.5_Silent_p.E225E NM_021012.4 NP_066292.2 potassium inwardly-rectifying channel, subfamily J, member 12 NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3) 70 Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732) ACATTGTGGAGGCCCATGTGC 0.642000 Prostate(3;0.18) 4 84 0 0 1 0 0 OR10J5 127385 broad.mit.edu 37 1 159505384 159505384 + Silent SNP C C T TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chr1:159505384C>T ENST00000334857.2 - 1 458 c.414G>A c.(412-414)aaG>aaA p.K138K NM_001004469.1 NP_001004469.1 Q8NHC4 O10J5_HUMAN olfactory receptor, family 10, subfamily J, member 5 138 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 22 all_hematologic(112;0.0429) CACATAGTCCCTTGCTCATGA 0.502000 4 85 0 0 1 0 0 STAB2 55576 broad.mit.edu 37 12 104155079 104155079 + Splice_Site SNP C C T TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chr12:104155079C>T ENST00000388887.2 + 66 7454 c.7248_splice c.e66-1 p.T2417_splice RP11-341G23.4_ENST00000551299.1_RNA NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 2417 FAS1 7. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity p.T2417M(1) NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 TTTCCCTAGACGGAGACCAGG 0.512000 7 33 0 0 1 0 0 TMEM125 128218 broad.mit.edu 37 1 43738488 43738488 + Missense_Mutation SNP G G A TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chr1:43738488G>A ENST00000432792.2 + 4 665 c.95G>A c.(94-96)cGg>cAg p.R32Q TMEM125_ENST00000439858.1_Missense_Mutation_p.R32Q Q96AQ2 TM125_HUMAN transmembrane protein 125 32 integral to membrane breast(1)|large_intestine(1)|lung(1) 3 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) CAGCAGCCGCGGCGCTCGGCG 0.711000 3 13 0 0 1 0 0 GABRA1 2554 broad.mit.edu 37 5 161318010 161318010 + Silent SNP C C G TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chr5:161318010C>G ENST00000428797.2 + 9 1165 c.810C>G c.(808-810)gtC>gtG p.V270V GABRA1_ENST00000023897.6_Silent_p.V270V|GABRA1_ENST00000437025.2_Silent_p.V270V|GABRA1_ENST00000420560.1_Silent_p.V270V|GABRA1_ENST00000444819.1_Silent_p.V270V|GABRA1_ENST00000393943.4_Silent_p.V270V NM_001127643.1 NP_001121115.1 P14867 GBRA1_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 1 270 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1) 42 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.228) Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425) TCTCACAAGTCTCCTTCTGGC 0.408000 61 10 0 0 1 0 0 SSTR4 6754 broad.mit.edu 37 20 23016994 23016994 + Missense_Mutation SNP G G A TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chr20:23016994G>A ENST00000255008.3 + 1 938 c.874G>A c.(874-876)Gtc>Atc p.V292I RP4-753D10.3_ENST00000440921.1_RNA NM_001052.2 NP_001043.2 P31391 SSR4_HUMAN somatostatin receptor 4 292 G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation integral to plasma membrane somatostatin receptor activity breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1) 32 Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118) TGATGCCACCGTCAACCACGT 0.567000 46 21 0 0 1 0 0 TTLL6 284076 broad.mit.edu 37 17 46847428 46847428 + Missense_Mutation SNP G G A TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chr17:46847428G>A ENST00000393382.3 - 14 2213 c.2072C>T c.(2071-2073)tCc>tTc p.S691F TTLL6_ENST00000433608.2_Missense_Mutation_p.S384F NM_001130918.1 NP_001124390.1 Q8N841 TTLL6_HUMAN tubulin tyrosine ligase-like family, member 6 643 cilium|microtubule basal body ATP binding|tubulin binding|tubulin-tyrosine ligase activity endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2) 18 TTGGGTGGTGGATTCTGGGGT 0.498000 11 88 0 0 1 0 0 FOXR2 139628 broad.mit.edu 37 X 55650343 55650343 + Missense_Mutation SNP C C A rs142979047 byFrequency TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chrX:55650343C>A ENST00000339140.3 + 1 511 c.199C>A c.(199-201)Cct>Act p.P67T NM_198451.3 NP_940853.1 Q6PJQ5 FOXR2_HUMAN forkhead box R2 67 embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1) 19 GAGACCCAGTCCTGATGGAGA 0.552000 25 36 1.1804e-14 1.36677e-14 1 1 0 ZNF384 0 broad.mit.edu 37 12 6787485 6787485 + Missense_Mutation SNP G G C TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chr12:6787485G>C ENST00000396795.1 - 5 991 c.494C>G c.(493-495)tCc>tGc p.S165C ZNF384_ENST00000319770.3_Missense_Mutation_p.S149C|ZNF384_ENST00000396799.2_Missense_Mutation_p.S165C|ZNF384_ENST00000396801.3_Missense_Mutation_p.S165C|ZNF384_ENST00000361959.3_Missense_Mutation_p.S165C|ZNF384_ENST00000355772.4_Missense_Mutation_p.S110C Q8TF68 ZN384_HUMAN zinc finger protein 384 165 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding EWSR1/ZNF384(4) breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1) 18 TACCTTCTTGGAGAGGTCAGG 0.607000 T """EWSR1, TAF15 """ ALL 24 20 0 0 1 0 0 AC226119.5 0 broad.mit.edu 37 4 3952901 3952901 + RNA SNP A A T TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chr4:3952901A>T ENST00000281228.8 - 0 206 FAM86EP_ENST00000313946.8_RNA CACCGGGCATACTTGACTGAC 0.552000 4 53 0 0 1 0 0 MATR3 9782 broad.mit.edu 37 5 138643467 138643467 + Missense_Mutation SNP C C G TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chr5:138643467C>G ENST00000394800.2 + 6 912 c.363C>G c.(361-363)gaC>gaG p.D121E MATR3_ENST00000361059.2_Missense_Mutation_p.D121E|MATR3_ENST00000503811.1_Intron|MATR3_ENST00000510056.1_Missense_Mutation_p.D121E|MATR3_ENST00000509990.1_Missense_Mutation_p.D121E|MATR3_ENST00000394805.3_Missense_Mutation_p.D121E|MATR3_ENST00000502499.1_Intron|MATR3_ENST00000502929.1_Missense_Mutation_p.D121E|MATR3_ENST00000504203.1_Intron P43243 MATR3_HUMAN matrin 3 121 nuclear inner membrane|nuclear matrix nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 29 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) CTGCTAGAGACTTAGATGAAC 0.463000 9 52 0 0 1 0 0 UGDH 7358 broad.mit.edu 37 4 39506922 39506922 + Missense_Mutation SNP G G C TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chr4:39506922G>C ENST00000316423.6 - 9 1448 c.1106C>G c.(1105-1107)cCa>cGa p.P369R UGDH_ENST00000507089.1_Missense_Mutation_p.P272R|UGDH_ENST00000506179.1_Missense_Mutation_p.P369R|UGDH_ENST00000501493.2_Missense_Mutation_p.P302R NM_001184701.1|NM_003359.3 NP_001171630.1|NP_003350.1 O60701 UGDH_HUMAN UDP-glucose 6-dehydrogenase 369 glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process cytosol electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2) 27 NADH(DB00157) AGGTACTTTTGGATCATATAT 0.348000 11 37 0 0 1 0 0 SYT15 83849 broad.mit.edu 37 10 46964009 46964009 + Silent SNP G G C TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chr10:46964009G>C ENST00000374323.3 - 6 1700 c.1113C>G c.(1111-1113)gtC>gtG p.V371V SYT15_ENST00000374325.3_Silent_p.V318V|RP11-38L15.3_ENST00000506914.1_RNA|SYT15_ENST00000374321.4_Silent_p.V318V|SYT15_ENST00000503753.1_Silent_p.V318V Q9BQS2 SYT15_HUMAN synaptotagmin XV 318 C2 2. integral to membrane|plasma membrane cervix(1)|endometrium(5)|kidney(2)|lung(5) 13 GAGACACTTTGACAAACACAC 0.562000 19 152 0 0 1 0 0 PROKR2 128674 broad.mit.edu 37 20 5282948 5282948 + Missense_Mutation SNP C C T TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chr20:5282948C>T ENST00000546004.1 - 3 1139 c.893G>A c.(892-894)cGt>cAt p.R298H PROKR2_ENST00000217270.3_Missense_Mutation_p.R298H Q8NFJ6 PKR2_HUMAN prokineticin receptor 2 298 integral to membrane|plasma membrane neuropeptide Y receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 53 GAAGAAGTCACGAACGATGGT 0.562000 HNSCC(71;0.22) 42 22 0 0 1 0 0 AKR1E2 83592 broad.mit.edu 37 10 4877922 4877922 + Missense_Mutation SNP A A T TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chr10:4877922A>T ENST00000298375.7 + 4 451 c.380A>T c.(379-381)cAt>cTt p.H127L AKR1E2_ENST00000345253.5_Missense_Mutation_p.H127L|AKR1E2_ENST00000525281.1_3'UTR|AKR1E2_ENST00000532248.1_Missense_Mutation_p.H127L|AKR1E2_ENST00000334019.4_Missense_Mutation_p.H127L NM_001040177.1 NP_001035267.1 Q96JD6 AKCL2_HUMAN aldo-keto reductase family 1, member E2 127 cytoplasm 1,5-anhydro-D-fructose reductase activity NS(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9) 15 TGCCTCTCACATCCTCGAGTG 0.512000 4 55 0 0 1 0 0 USP42 84132 broad.mit.edu 37 7 6175578 6175578 + Missense_Mutation SNP G G A TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chr7:6175578G>A ENST00000306177.5 + 4 707 c.549G>A c.(547-549)atG>atA p.M183I NM_032172.2 NP_115548.1 Q9H9J4 UBP42_HUMAN ubiquitin specific peptidase 42 183 cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 35 Ovarian(82;0.0423) UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14) TCAATGAGATGCGGCGTAAGT 0.348000 8 12 0 0 1 0 0 CCR7 1236 broad.mit.edu 37 17 38711153 38711153 + Silent SNP G G A TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chr17:38711153G>A ENST00000246657.2 - 3 1040 c.978C>T c.(976-978)taC>taT p.Y326Y CCR7_ENST00000579344.1_Silent_p.Y320Y NM_001838.3 NP_001829.1 P32248 CCR7_HUMAN chemokine (C-C motif) receptor 7 326 cell maturation|immunological synapse formation|inflammatory response|interleukin-12 secretion|lymphocyte migration into lymph node|positive regulation of dendritic cell antigen processing and presentation|positive regulation of glycoprotein biosynthetic process|positive regulation of humoral immune response|positive regulation of hypersensitivity|positive regulation of interleukin-12 production|positive regulation of neutrophil chemotaxis|regulation of interferon-gamma production|regulation of interleukin-1 beta secretion|T cell costimulation integral to membrane|intracellular C-C chemokine receptor activity|chemokine (C-C motif) ligand 19 binding|chemokine (C-C motif) ligand 21 binding breast(1)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 Breast(137;0.000496) CGATGAAGGCGTACAAGAAAG 0.587000 14 45 0 0 1 0 0 PTPRD 5789 broad.mit.edu 37 9 8331734 8331734 + Silent SNP G G A rs143526425 byFrequency TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chr9:8331734G>A ENST00000381196.4 - 41 5925 c.5382C>T c.(5380-5382)gaC>gaT p.D1794D PTPRD_ENST00000355233.5_Silent_p.D1388D|PTPRD_ENST00000397606.3_Silent_p.D1387D|PTPRD_ENST00000537002.1_Silent_p.D1384D|PTPRD_ENST00000397611.3_Silent_p.D1384D|PTPRD_ENST00000358503.5_Silent_p.D1772D|PTPRD_ENST00000540109.1_Silent_p.D1794D|PTPRD_ENST00000360074.4_Silent_p.D1781D|PTPRD_ENST00000397617.3_Silent_p.D1387D|PTPRD_ENST00000486161.1_Silent_p.D1387D|PTPRD_ENST00000356435.5_Silent_p.D1794D NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1794 Tyrosine-protein phosphatase 2. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) GGGACTGGCCGTCCTTTAGAA 0.512000 TSP Lung(15;0.13) 13 32 0 0 1 0 0 TEX2 55852 broad.mit.edu 37 17 62272447 62272447 + Missense_Mutation SNP C C A TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chr17:62272447C>A ENST00000258991.3 - 3 1737 c.1653G>T c.(1651-1653)atG>atT p.M551I TEX2_ENST00000583097.1_Missense_Mutation_p.M551I|TEX2_ENST00000584379.1_Missense_Mutation_p.M551I Q8IWB9 TEX2_HUMAN testis expressed 2 551 signal transduction|sphingolipid metabolic process integral to membrane breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(8;1.33e-10) READ - Rectum adenocarcinoma(1115;0.0689) AAATCTCATTCATCCATCCCT 0.383000 6 56 5.9392e-07 6.66645e-07 1 1 0 MAG 4099 broad.mit.edu 37 19 35791110 35791110 + Missense_Mutation SNP G G T TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chr19:35791110G>T ENST00000361922.4 + 6 923 c.773G>T c.(772-774)aGc>aTc p.S258I MAG_ENST00000392213.3_Missense_Mutation_p.S258I|MAG_ENST00000537831.2_Missense_Mutation_p.S233I NM_080600.2 NP_542167.1 P20916 MAG_HUMAN myelin associated glycoprotein 258 Ig-like C2-type 2. blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway integral to membrane|plasma membrane sugar binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2) 34 all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162) Renal(1328;0.242) Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417) TCCCACGTGAGCCTGCTCTGT 0.677000 7 9 0.00198382 0.00202056 1 1 0 AC024560.3 0 broad.mit.edu 37 3 197348646 197348646 + RNA SNP T T C rs138265355 by1000genomes TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chr3:197348646T>C ENST00000418868.1 - 0 613 NR_003266.2 TGGGCCTGCCTGCCCTTTCCA 0.532000 6 91 0 0 1 0 0 PPP2R2D 55844 broad.mit.edu 37 10 133758848 133758848 + Silent SNP C C A TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chr10:133758848C>A ENST00000422256.2 + 4 509 c.24C>A c.(22-24)atC>atA p.I8I PPP2R2D_ENST00000470416.1_3'UTR Q66LE6 2ABD_HUMAN protein phosphatase 2, regulatory subunit B, delta 235 Poly-Gly. cell division|exit from mitosis|mitosis|signal transduction cytoplasm|protein phosphatase type 2A complex protein phosphatase type 2A regulator activity endometrium(3)|large_intestine(3)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 13 all_cancers(35;2.16e-12)|all_epithelial(44;2.77e-09)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Colorectal(31;0.0124)|Breast(234;0.023)|all_neural(114;0.0299)|Melanoma(40;0.123)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;7.86e-05)|Epithelial(32;8.82e-05)|all cancers(32;0.000106)|BRCA - Breast invasive adenocarcinoma(275;0.21) CCGAAGTCATCACTGCAGCCG 0.562000 15 97 2.31682e-05 2.5485e-05 1 1 0 FCGBP 8857 broad.mit.edu 37 19 40374023 40374023 + Missense_Mutation SNP C C T TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chr19:40374023C>T ENST00000221347.6 - 26 12062 c.12055G>A c.(12055-12057)Gtg>Atg p.V4019M NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 4019 Cys-rich. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) TGGCACACCACGACTTTACCC 0.642000 3 18 0 0 1 0 0 ZKSCAN7 55888 broad.mit.edu 37 3 44611529 44611529 + Silent SNP A A T TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chr3:44611529A>T ENST00000273320.3 + 6 1356 c.927A>T c.(925-927)gcA>gcT p.A309A ZKSCAN7_ENST00000341840.3_Intron|ZKSCAN7_ENST00000426540.1_Silent_p.A309A|RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000431636.1_Intron NM_018651.2 NP_061121.2 zinc finger with KRAB and SCAN domains 7 CTGGGGCAGCAGAGACTGGAG 0.438000 28 116 0 0 1 0 0 CDH9 1007 broad.mit.edu 37 5 26886102 26886102 + Missense_Mutation SNP G G C TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chr5:26886102G>C ENST00000231021.4 - 10 1775 c.1603C>G c.(1603-1605)Ccg>Gcg p.P535A NM_016279.3 NP_057363.3 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 (T1-cadherin) 535 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.P535T(1) breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 137 GTGAAATTCGGATTGAGAGTA 0.318000 4 94 0 0 1 0 0 FZD1 8321 broad.mit.edu 37 7 90895680 90895680 + Silent SNP C C G TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chr7:90895680C>G ENST00000287934.2 + 1 1898 c.1485C>G c.(1483-1485)ctC>ctG p.L495L NM_003505.1 NP_003496.1 Q9UP38 FZD1_HUMAN frizzled family receptor 1 495 autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215) STAD - Stomach adenocarcinoma(171;0.0134) TGGCGCCCCTCTTCGTGTACC 0.622000 74 100 0 0 1 0 0 TAS2R1 50834 broad.mit.edu 37 5 9630016 9630016 + Silent SNP C C T TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chr5:9630016C>T ENST00000382492.2 - 1 447 c.129G>A c.(127-129)ccG>ccA p.P43P CTD-2001E22.1_ENST00000504182.2_RNA NM_019599.2 NP_062545.1 Q9NYW7 TA2R1_HUMAN taste receptor, type 2, member 1 43 chemosensory behavior|sensory perception of taste integral to membrane taste receptor activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1) 39 GGAGATCCAGCGGAGCCATTT 0.378000 8 72 0 0 1 0 0 SCN8A 6334 broad.mit.edu 37 12 52139791 52139791 + Missense_Mutation SNP G G A TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chr12:52139791G>A ENST00000354534.5 + 13 2281 c.2103G>A c.(2101-2103)atG>atA p.M701I SCN8A_ENST00000545061.1_Missense_Mutation_p.M701I|SCN8A_ENST00000550891.1_Missense_Mutation_p.M701I NM_001177984.2|NM_014191.3 NP_001171455.1|NP_055006.1 Q9UQD0 SCN8A_HUMAN sodium channel, voltage gated, type VIII, alpha subunit 701 axon guidance|myelination|peripheral nervous system development cytoplasmic membrane-bounded vesicle|node of Ranvier ATP binding|voltage-gated sodium channel activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 BRCA - Breast invasive adenocarcinoma(357;0.181) Lamotrigine(DB00555) ACAGTATAATGAGTGTTGTTA 0.403000 22 19 0 0 1 0 0 NFATC2 4773 broad.mit.edu 37 20 50139907 50139907 + Silent SNP C C T TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chr20:50139907C>T ENST00000371564.3 - 2 1092 c.873G>A c.(871-873)ccG>ccA p.P291P NFATC2_ENST00000414705.1_Silent_p.P271P|NFATC2_ENST00000396009.3_Silent_p.P291P NM_001258296.1|NM_012340.4 NP_001245225.1|NP_036472.2 Q13469 NFAC2_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 291 B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug actin cytoskeleton|nucleus|plasma membrane protein binding|sequence-specific DNA binding transcription factor activity EWSR1/NFATC2(9) breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 53 Hepatocellular(150;0.248) GGTACCCAGCCGGGGAGCCGT 0.697000 16 17 0 0 1 0 0 DYSF 8291 broad.mit.edu 37 2 71780304 71780304 + Missense_Mutation SNP G G C rs150417363 TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chr2:71780304G>C ENST00000258104.3 + 20 2193 c.1916G>C c.(1915-1917)cGt>cCt p.R639P DYSF_ENST00000394120.2_Missense_Mutation_p.R640P|DYSF_ENST00000409366.1_Missense_Mutation_p.R640P|DYSF_ENST00000429174.2_Missense_Mutation_p.R639P|DYSF_ENST00000409744.1_Missense_Mutation_p.R626P|DYSF_ENST00000413539.2_Missense_Mutation_p.R670P|DYSF_ENST00000410020.3_Missense_Mutation_p.R657P|DYSF_ENST00000409762.1_Missense_Mutation_p.R656P|DYSF_ENST00000410041.1_Missense_Mutation_p.R657P|DYSF_ENST00000409582.3_Missense_Mutation_p.R656P|DYSF_ENST00000409651.1_Missense_Mutation_p.R671P NM_001130976.1|NM_003494.3 NP_001124448.1|NP_003485.1 O75923 DYSF_HUMAN dysferlin 639 cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 CAGTACAGCCGTGCAGTCTTT 0.582000 10 113 0 0 1 0 0 CNTN3 5067 broad.mit.edu 37 3 74411041 74411041 + Splice_Site SNP C C T TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chr3:74411041C>T ENST00000263665.6 - 10 1391 c.1364_splice c.e10+1 p.R455_splice NM_020872.1 NP_065923.1 Q9P232 CNTN3_HUMAN contactin 3 (plasmacytoma associated) 455 Ig-like C2-type 5. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 83 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) ATCAAAATACCTTTCATGCTC 0.448000 27 21 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chr20:33345744C>T ENST00000374796.2 - 8 3377 c.807G>A c.(805-807)caG>caA p.Q269Q NCOA6_ENST00000359003.2_Silent_p.Q269Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 269 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.Q269Q(15) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gctgctgctgctgttgttgtt 0.537000 4 94 0 0 1 0 0 MKI67 4288 broad.mit.edu 37 10 129905829 129905829 + Silent SNP T T C TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chr10:129905829T>C ENST00000368654.3 - 13 4650 c.4275A>G c.(4273-4275)ggA>ggG p.G1425G MKI67_ENST00000368653.3_Silent_p.G1065G NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 1425 16 X 122 AA approximate repeats. cell proliferation nucleolus ATP binding|protein C-terminus binding NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) TATCCTCACCTCCTGGTACTT 0.483000 5 241 0 0 1 0 0 RAB42 115273 broad.mit.edu 37 1 28920318 28920318 + Missense_Mutation SNP A A T TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chr1:28920318A>T ENST00000373826.3 + 2 313 c.7A>T c.(7-9)Act>Tct p.T3S TAF12_ENST00000471683.1_Intron|RAB42_ENST00000465518.1_3'UTR NM_152304.1 NP_689517.1 Q8N4Z0 RAB42_HUMAN RAB42, member RAS oncogene family 3 small GTPase mediated signal transduction membrane GTP binding breast(1)|endometrium(1)|large_intestine(1)|lung(2) 5 Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00618)|all_lung(284;0.00909)|Breast(348;0.0249)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0577)|Ovarian(437;0.127)|Medulloblastoma(700;0.151) Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00298)|KIRC - Kidney renal clear cell carcinoma(1967;0.00948)|BRCA - Breast invasive adenocarcinoma(304;0.0213)|READ - Rectum adenocarcinoma(331;0.0649) GGTCATGGCCACTCAGGGCCC 0.577000 7 6 0 0 1 0 0 RP11-782C8.2 0 broad.mit.edu 37 1 143146075 143146076 + RNA INS - - T rs151057799 TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chr1:143146075_143146076insT ENST00000412204.2 - 0 2503 RP11-782C8.1_ENST00000438000.1_lincRNA aagactctgtctcaaaaaaaaa 0.411 3 4 --- --- --- --- CD34 947 broad.mit.edu 37 1 208070903 208070903 + Frame_Shift_Del DEL A A - TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chr1:208070903delA ENST00000356522.4 - 4 853 c.532delT c.(532-534)cafs p.S178fs CD34_ENST00000310833.7_Frame_Shift_Del_p.S178fs|CD34_ENST00000537704.1_Frame_Shift_Del_p.S43fs|CD34_ENST00000485761.1_5'UTR NM_001773.2 NP_001764.1 P28906 CD34_HUMAN CD34 molecule 178 cell-cell adhesion|leukocyte migration|regulation of immune response integral to membrane carbohydrate binding kidney(2)|large_intestine(2)|lung(8)|ovary(1) 13 CTGATGCCTGAACATTTGATT 0.418 2 4 --- --- --- --- AC016995.3 0 broad.mit.edu 37 2 38710017 38710019 + RNA DEL AAT AAT - rs2005502 by1000genomes TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chr2:38710017_38710019delAAT ENST00000417039.1 - 0 696 TTCTTtaaaaaataaataaataa 0.246 4 9 --- --- --- --- LINC00884 0 broad.mit.edu 37 3 194230007 194230008 + RNA INS - - T rs71882311 TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chr3:194230007_194230008insT ENST00000448892.1 + 0 1471 LINC00884_ENST00000437597.1_RNA NR_033929.1 TTCCTCTCttcttttttttttt 0.455 2 4 --- --- --- --- SRP72 6731 broad.mit.edu 37 4 57333819 57333820 + Frame_Shift_Ins INS - - G rs17524437 by1000genomes TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chr4:57333819_57333820insG ENST00000342756.5 + 1 739_740 c.18_19insG c.(16-21)agggggfs p.RG6fs SRP72_ENST00000504757.1_Frame_Shift_Ins_p.RG6fs|SRP72_ENST00000510663.1_Frame_Shift_Ins_p.RG6fs NM_006947.3 NP_008878.3 O76094 SRP72_HUMAN signal recognition particle 72kDa 6 response to drug|SRP-dependent cotranslational protein targeting to membrane cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting 7S RNA binding|signal recognition particle binding breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2) 22 Glioma(25;0.08)|all_neural(26;0.101) GCGGCGGCAGCGGGGGGGTGTC 0.639 10 21 --- --- --- --- CTB-12O2.1 0 broad.mit.edu 37 5 151498883 151498883 + RNA DEL G G - TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chr5:151498883delG ENST00000524295.1 + 0 199 CAGTTGGAGTGGGATGAGACA 0.522 2 4 --- --- --- --- STAG3L4 0 broad.mit.edu 37 7 66772495 66772495 + RNA DEL T T - TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chr7:66772495delT ENST00000416602.2 + 0 362 NR_040586.1 Q8TBR4 STG34_HUMAN endometrium(2)|lung(5) 7 Lung NSC(55;0.0839)|all_lung(88;0.181) GCTTGATTCCTTTTTTTTTTT 0.423 3 3 --- --- --- --- ZNF252P-AS1 0 broad.mit.edu 37 8 146228843 146228843 + RNA DEL G G - TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chr8:146228843delG ENST00000527067.1 + 0 647 NR_026974.1 GGCGGCGGGCGGGGGTGAAGC 0.652 2 4 --- --- --- --- RP11-262H14.1 0 broad.mit.edu 37 9 66460027 66460027 + RNA DEL T T - rs112286776 TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chr9:66460027delT ENST00000424345.1 + 0 224 ttgggaaggcttttcacatat 0.343 4 3 --- --- --- --- RP11-764K9.1 0 broad.mit.edu 37 9 68406889 68406889 + RNA DEL G G - rs141841413 by1000genomes TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chr9:68406889delG ENST00000417843.2 - 0 224 atccagggcagtcatagtggt 0.498 3 5 --- --- --- --- RP11-229P13.20 0 broad.mit.edu 37 9 139931682 139931683 + RNA INS - - GTGGGC rs149732889 by1000genomes TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chr9:139931682_139931683insGTGGGC ENST00000457302.2 + 0 191_192 AGTGAAGGATGGTGGGCGTGGG 0.678 4 2 --- --- --- --- RP11-405A12.2 0 broad.mit.edu 37 12 20103413 20103414 + RNA INS - - TTC rs35481088 TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chr12:20103413_20103414insTTC ENST00000535764.1 + 0 378 ggttaatttctttttttttttt 0.510 4 2 --- --- --- --- IGHV4-61 0 broad.mit.edu 37 14 107095573 107095573 + RNA DEL G G - TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chr14:107095573delG ENST00000390630.2 - 0 89 TTCTTGCACAGGAGGTCCAGG 0.507 5 9 --- --- --- --- HERC2P9 0 broad.mit.edu 37 15 28929261 28929261 + RNA DEL T T - TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chr15:28929261delT ENST00000528584.1 + 0 1811 NR_036443.1 TAAAGTCCAGTTTTTTTCCTG 0.303 2 4 --- --- --- --- DNM1P47 0 broad.mit.edu 37 15 102294302 102294304 + RNA DEL GCT GCT - TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chr15:102294302_102294304delGCT ENST00000561463.1 + 0 2348_2350 TCTTCTCAGAGCTGCTGTCCAAC 0.591 2 4 --- --- --- --- RP11-1166P10.6 0 broad.mit.edu 37 16 32031891 32031892 + RNA INS - - G rs138909480 by1000genomes TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chr16:32031891_32031892insG ENST00000566806.1 - 0 499 GAAAATGCCCAGGGGGGCCCAG 0.574 2 4 --- --- --- --- CTB-171A8.1 0 broad.mit.edu 37 19 45193191 45193191 + RNA DEL C C - TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chr19:45193191delC ENST00000590796.1 - 0 408 cccttgcacacccccaggcac 0.572 2 4 --- --- --- --- FAM182A 0 broad.mit.edu 37 20 26054752 26054754 + RNA DEL ATC ATC - rs112967123 TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chr20:26054752_26054754delATC ENST00000376398.2 + 0 819 NR_026713.1 breast(1)|endometrium(2)|kidney(1) 4 caccatcattatcatcattacta 0.399 3 4 --- --- --- --- GNAS-AS1 0 broad.mit.edu 37 20 57405511 57405513 + RNA DEL CAC CAC - TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chr20:57405511_57405513delCAC ENST00000424094.2 - 0 819 GNAS-AS1_ENST00000598163.1_RNA NR_002785.2 ccaccaccatcaccaccaccaca 0.557 3 5 --- --- --- --- RP5-1043L13.1 0 broad.mit.edu 37 20 58720112 58720114 + RNA DEL CTC CTC - TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chr20:58720112_58720114delCTC ENST00000432910.1 + 0 153 NR_046099.1 ATTTTTCCCACTCCTCCTTCCCC 0.379 4 4 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11048361 11048361 + RNA DEL A A - rs71293628 TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chr21:11048361delA ENST00000470054.1 - 0 659 B melanoma antigen family, member 2 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) AGGGGAAGAGAAAAAAACAGG 0.408 3 4 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11062343 11062344 + RNA INS - - AG rs148978863 TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chr21:11062343_11062344insAG ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 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) TAGTAAAAGACAGCAACTTTCA 0.267 4 6 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11066883 11066884 + RNA INS - - AA rs147216020 TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chr21:11066883_11066884insAA ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 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) TTAGAATCCATAATACTCTCAG 0.366 3 3 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11069012 11069013 + RNA INS - - C rs150046862 TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chr21:11069012_11069013insC ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 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) tttttcaacttcaaaaaattaa 0.272 4 6 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11088487 11088488 + RNA DEL TG TG - rs113519528 by1000genomes TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chr21:11088487_11088488delTG ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 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) tttgtttttttgttgttgttgt 0.401 2 4 --- --- --- --- LINC00478 0 broad.mit.edu 37 21 17741884 17741884 + RNA DEL A A - rs77858910 TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chr21:17741884delA ENST00000458468.1 + 0 469 NR_027790.1 CCCCCTGGCCAAAAAAAAGCC 0.458 2 4 --- --- --- --- GGT3P 0 broad.mit.edu 37 22 18771547 18771547 + RNA DEL G G - rs149629602 TCGA-N8-A4PQ-01A-11D-A28R-08 TCGA-N8-A4PQ-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f cab88f55-36e4-4645-a74e-6e3a2911e9c8 g.chr22:18771547delG ENST00000412448.1 - 0 834 TTTTTGttttgtttttttttt 0.433 3 6 --- --- --- ---