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 FSCB 84075 broad.mit.edu 37 14 44974999 44974999 + Missense_Mutation SNP G G A TCGA-EM-A3FQ-01A-11D-A21A-08 TCGA-EM-A3FQ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79133e29-ba0b-4e2f-a6d9-bf294c5144f0 2125f0b1-c6b9-4b65-a6db-9fd4422e7c7e g.chr14:44974999G>A ENST00000340446.4 - 1 1483 c.1192C>T c.(1192-1194)Cct>Tct p.P398S NM_032135.3 NP_115511.3 Q5H9T9 FSCB_HUMAN fibrous sheath CABYR binding protein 398 Pro-rich. cilium breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 89 GBM - Glioblastoma multiforme(112;0.128) GCTGGTAAAGGCTGTACTTCA 0.507000 9 75 0 0 0.307466 0 0 ADAMTS2 9509 broad.mit.edu 37 5 178553069 178553069 + Missense_Mutation SNP A A T TCGA-EM-A3FQ-01A-11D-A21A-08 TCGA-EM-A3FQ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79133e29-ba0b-4e2f-a6d9-bf294c5144f0 2125f0b1-c6b9-4b65-a6db-9fd4422e7c7e g.chr5:178553069A>T ENST00000251582.7 - 18 2781 c.2680T>A c.(2680-2682)Ttc>Atc p.F894I NM_014244.4 NP_055059.2 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 2 894 TSP type-1 2. collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7) 72 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) GCGGCACAGAAGCCACGGTGT 0.652000 6 217 0 0 0.278610 0 0 DNM1P34 0 broad.mit.edu 37 15 75594836 75594836 + RNA SNP A A G TCGA-EM-A3FQ-01A-11D-A21A-08 TCGA-EM-A3FQ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79133e29-ba0b-4e2f-a6d9-bf294c5144f0 2125f0b1-c6b9-4b65-a6db-9fd4422e7c7e g.chr15:75594836A>G ENST00000567292.1 - 0 470 GAGGTGCATGATGGTCTTGGG 0.592000 3 52 0 0 0.248553 0 0 RUNX2 860 broad.mit.edu 37 6 45390466 45390466 + Silent SNP A A G TCGA-EM-A3FQ-01A-11D-A21A-08 TCGA-EM-A3FQ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79133e29-ba0b-4e2f-a6d9-bf294c5144f0 2125f0b1-c6b9-4b65-a6db-9fd4422e7c7e g.chr6:45390466A>G ENST00000371438.1 + 2 553 c.195A>G c.(193-195)caA>caG p.Q65Q RUNX2_ENST00000371432.3_Silent_p.Q51Q|RUNX2_ENST00000576263.1_Silent_p.Q65Q|RUNX2_ENST00000541979.1_Silent_p.Q133Q|RUNX2_ENST00000465038.2_Silent_p.Q65Q|RUNX2_ENST00000371436.6_Silent_p.Q65Q|RUNX2_ENST00000359524.5_Silent_p.Q51Q|RUNX2_ENST00000352853.5_Silent_p.Q133Q 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 26 0 0 0.150653 0 0 MLLT3 4300 broad.mit.edu 37 9 20414346 20414346 + Silent SNP G G A TCGA-EM-A3FQ-01A-11D-A21A-08 TCGA-EM-A3FQ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79133e29-ba0b-4e2f-a6d9-bf294c5144f0 2125f0b1-c6b9-4b65-a6db-9fd4422e7c7e g.chr9:20414346G>A ENST00000380338.4 - 5 784 c.498C>T c.(496-498)agC>agT p.S166S MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S163S|MLLT3_ENST00000355930.6_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 166 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S166S(4) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctactgctgctgctgc 0.527000 T MLL ALL 3 13 0 0 0.115264 0 0 NT5E 4907 broad.mit.edu 37 6 86195042 86195042 + Missense_Mutation SNP T T C TCGA-EM-A3FQ-01A-11D-A21A-08 TCGA-EM-A3FQ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79133e29-ba0b-4e2f-a6d9-bf294c5144f0 2125f0b1-c6b9-4b65-a6db-9fd4422e7c7e g.chr6:86195042T>C ENST00000257770.3 + 4 890 c.841T>C c.(841-843)Tat>Cat p.Y281H NT5E_ENST00000369651.3_Missense_Mutation_p.Y281H NM_002526.3 NP_002517.1 P21589 5NTD_HUMAN 5'-nucleotidase, ecto (CD73) 281 DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process anchored to membrane|cytoplasm|membrane fraction|plasma membrane 5'-nucleotidase activity|nucleotide binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427) BRCA - Breast invasive adenocarcinoma(108;0.0417) Pentoxifylline(DB00806) AGTCCAGGCCTATGCTTTTGG 0.453000 3 83 0 0 0.150653 0 0 NPTX2 4885 broad.mit.edu 37 7 98254301 98254301 + Nonsense_Mutation SNP C C G TCGA-EM-A3FQ-01A-11D-A21A-08 TCGA-EM-A3FQ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79133e29-ba0b-4e2f-a6d9-bf294c5144f0 2125f0b1-c6b9-4b65-a6db-9fd4422e7c7e g.chr7:98254301C>G ENST00000265634.3 + 3 876 c.711C>G c.(709-711)taC>taG p.Y237* NM_002523.2 NP_002514.1 P47972 NPTX2_HUMAN neuronal pentraxin II 237 Pentaxin. synaptic transmission extracellular region metal ion binding|sugar binding breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 18 all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142) STAD - Stomach adenocarcinoma(171;0.215) ACTACCTATACGGCAAGATCA 0.587000 4 286 0 0 0.184627 0 0 TMEM132B 114795 broad.mit.edu 37 12 126138656 126138656 + Silent SNP G G A TCGA-EM-A3FQ-01A-11D-A21A-08 TCGA-EM-A3FQ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79133e29-ba0b-4e2f-a6d9-bf294c5144f0 2125f0b1-c6b9-4b65-a6db-9fd4422e7c7e g.chr12:126138656G>A ENST00000299308.3 + 9 2645 c.2637G>A c.(2635-2637)ccG>ccA p.P879P TMEM132B_ENST00000535886.1_Silent_p.P391P NM_052907.2 NP_443139.2 Q14DG7 T132B_HUMAN transmembrane protein 132B 879 integral to membrane NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1) 107 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) GGAAGTCACCGGACCCCAATA 0.517000 17 38 0 0 0.539581 0 0 ZNF780A 284323 broad.mit.edu 37 19 40580552 40580552 + Missense_Mutation SNP T T G TCGA-EM-A3FQ-01A-11D-A21A-08 TCGA-EM-A3FQ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79133e29-ba0b-4e2f-a6d9-bf294c5144f0 2125f0b1-c6b9-4b65-a6db-9fd4422e7c7e g.chr19:40580552T>G ENST00000450241.2 - 6 2006 c.1695A>C c.(1693-1695)caA>caC p.Q565H ZNF780A_ENST00000595687.2_Missense_Mutation_p.Q599H|ZNF780A_ENST00000414720.2_Intron|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000455521.1_Missense_Mutation_p.Q600H|ZNF780A_ENST00000340963.5_Missense_Mutation_p.Q599H|ZNF780A_ENST00000594395.1_Missense_Mutation_p.Q600H O75290 Z780A_HUMAN zinc finger protein 780A 599 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1) 31 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) GTCGAATAAGTTGCATATGAA 0.403000 3 132 0 0 0.150653 0 0 PCDH11X 27328 broad.mit.edu 37 X 91133712 91133712 + Missense_Mutation SNP G G A TCGA-EM-A3FQ-01A-11D-A21A-08 TCGA-EM-A3FQ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79133e29-ba0b-4e2f-a6d9-bf294c5144f0 2125f0b1-c6b9-4b65-a6db-9fd4422e7c7e g.chrX:91133712G>A ENST00000373094.1 + 2 3318 c.2473G>A c.(2473-2475)Gtt>Att p.V825I PCDH11X_ENST00000361655.2_Missense_Mutation_p.V825I|PCDH11X_ENST00000406881.1_Missense_Mutation_p.V825I|PCDH11X_ENST00000373097.1_Missense_Mutation_p.V825I|PCDH11X_ENST00000504220.1_Missense_Mutation_p.V825I|PCDH11X_ENST00000361724.1_Missense_Mutation_p.V825I|PCDH11X_ENST00000298274.8_Missense_Mutation_p.V825I|PCDH11X_ENST00000395337.2_Missense_Mutation_p.V825I|PCDH11X_ENST00000373088.1_Missense_Mutation_p.V825I NM_032968.3 NP_116750.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked 825 homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 CATAACTGTCGTTGTAGTTAT 0.463000 29 67 0 0 0.834066 0 0 TANC1 85461 broad.mit.edu 37 2 160080795 160080795 + Missense_Mutation SNP G G A TCGA-EM-A3FQ-01A-11D-A21A-08 TCGA-EM-A3FQ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79133e29-ba0b-4e2f-a6d9-bf294c5144f0 2125f0b1-c6b9-4b65-a6db-9fd4422e7c7e g.chr2:160080795G>A ENST00000263635.6 + 23 3968 c.3731G>A c.(3730-3732)gGg>gAg p.G1244E TANC1_ENST00000454300.1_Missense_Mutation_p.G1138E NM_001145909.1|NM_033394.2 NP_001139381.1|NP_203752.2 Q9C0D5 TANC1_HUMAN tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 1244 cell junction|postsynaptic density|postsynaptic membrane binding breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 77 GACCACAGCGGGATGCGGCCC 0.592000 3 101 0 0 0.115264 0 0 SALL1 6299 broad.mit.edu 37 16 51173859 51173859 + Silent SNP A A G TCGA-EM-A3FQ-01A-11D-A21A-08 TCGA-EM-A3FQ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79133e29-ba0b-4e2f-a6d9-bf294c5144f0 2125f0b1-c6b9-4b65-a6db-9fd4422e7c7e g.chr16:51173859A>G ENST00000440970.1 - 2 2414 c.1983T>C c.(1981-1983)gcT>gcC p.A661A SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Silent_p.A758A|SALL1_ENST00000566102.1_Intron NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 758 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) GCGGGGGCATAGCACGATGGA 0.552000 3 93 0 0 0.150653 0 0 PFAS 5198 broad.mit.edu 37 17 8158830 8158830 + Missense_Mutation SNP C C A TCGA-EM-A3FQ-01A-11D-A21A-08 TCGA-EM-A3FQ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79133e29-ba0b-4e2f-a6d9-bf294c5144f0 2125f0b1-c6b9-4b65-a6db-9fd4422e7c7e g.chr17:8158830C>A ENST00000314666.6 + 5 528 c.395C>A c.(394-396)cCc>cAc p.P132H PFAS_ENST00000545834.1_Intron NM_012393.2 NP_036525.1 O15067 PUR4_HUMAN phosphoribosylformylglycinamidine synthase 132 'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process cytosol ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 35 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) TTTGCCCACCCCCCGTCAGCT 0.567000 4 139 0.150653 0.168732 0.150653 1 0 MCF2L 23263 broad.mit.edu 37 13 113728878 113728878 + Splice_Site SNP G G A TCGA-EM-A3FQ-01A-11D-A21A-08 TCGA-EM-A3FQ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79133e29-ba0b-4e2f-a6d9-bf294c5144f0 2125f0b1-c6b9-4b65-a6db-9fd4422e7c7e g.chr13:113728878G>A ENST00000397030.1 + 10 1252 c.e10+1 MCF2L_ENST00000421756.1_Splice_Site|MCF2L_ENST00000434480.2_Splice_Site|MCF2L_ENST00000375608.3_Splice_Site|MCF2L_ENST00000442652.2_Splice_Site|MCF2L_ENST00000535094.2_Splice_Site|MCF2L_ENST00000375601.3_Splice_Site|MCF2L_ENST00000423482.2_Splice_Site|MCF2L_ENST00000375604.2_Splice_Site|MCF2L_ENST00000375597.4_Splice_Site O15068 MCF2L_HUMAN MCF.2 cell line derived transforming sequence-like apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane Rho guanyl-nucleotide exchange factor activity kidney(1)|large_intestine(5)|ovary(1)|stomach(1) 8 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188) GAAATCAGGCGTAAGGCGGGG 0.642000 4 108 0 0 0.150653 0 0 POTEE 445582 broad.mit.edu 37 2 131976198 131976198 + Missense_Mutation SNP A A G TCGA-EM-A3FQ-01A-11D-A21A-08 TCGA-EM-A3FQ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79133e29-ba0b-4e2f-a6d9-bf294c5144f0 2125f0b1-c6b9-4b65-a6db-9fd4422e7c7e g.chr2:131976198A>G ENST00000356920.5 + 1 317 c.223A>G c.(223-225)Agt>Ggt p.S75G PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_Missense_Mutation_p.S75G|PLEKHB2_ENST00000303908.3_Intron NM_001083538.1 NP_001077007.1 Q6S8J3 POTEE_HUMAN POTE ankyrin domain family, member E 75 ATP binding CTGCAGGGGGAGTGGCAAGAG 0.587000 4 223 0 0 0.184627 0 0 TBP 6908 broad.mit.edu 37 6 170871082 170871082 + Silent SNP G G A TCGA-EM-A3FQ-01A-11D-A21A-08 TCGA-EM-A3FQ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79133e29-ba0b-4e2f-a6d9-bf294c5144f0 2125f0b1-c6b9-4b65-a6db-9fd4422e7c7e g.chr6:170871082G>A ENST00000392092.2 + 3 537 c.258G>A c.(256-258)caG>caA p.Q86Q TBP_ENST00000230354.6_Silent_p.Q86Q|TBP_ENST00000540980.1_Silent_p.Q66Q NM_003194.4 NP_003185.1 P20226 TBP_HUMAN TATA box binding protein 86 Poly-Gln. cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding p.Q86Q(2) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1) 26 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) agcagcagcagcagcagcagc 0.612000 3 29 0 0 0.217242 0 0 RUNX2 860 broad.mit.edu 37 6 45390469 45390469 + Silent SNP G G A TCGA-EM-A3FQ-01A-11D-A21A-08 TCGA-EM-A3FQ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79133e29-ba0b-4e2f-a6d9-bf294c5144f0 2125f0b1-c6b9-4b65-a6db-9fd4422e7c7e g.chr6:45390469G>A ENST00000371438.1 + 2 556 c.198G>A c.(196-198)caG>caA p.Q66Q RUNX2_ENST00000371432.3_Silent_p.Q52Q|RUNX2_ENST00000576263.1_Silent_p.Q66Q|RUNX2_ENST00000541979.1_Silent_p.Q134Q|RUNX2_ENST00000465038.2_Silent_p.Q66Q|RUNX2_ENST00000371436.6_Silent_p.Q66Q|RUNX2_ENST00000359524.5_Silent_p.Q52Q|RUNX2_ENST00000352853.5_Silent_p.Q134Q NM_001024630.3 NP_001019801.3 Q13950 RUNX2_HUMAN runt-related transcription factor 2 66 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 agcagcaacagcagcagcagc 0.731000 3 23 0 0 0.150653 0 0 LINC00969 0 broad.mit.edu 37 3 195392916 195392917 + RNA INS - - T TCGA-EM-A3FQ-01A-11D-A21A-08 TCGA-EM-A3FQ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79133e29-ba0b-4e2f-a6d9-bf294c5144f0 2125f0b1-c6b9-4b65-a6db-9fd4422e7c7e g.chr3:195392916_195392917insT ENST00000445430.1 + 0 647 ACTTCTTGCCCTTTTTTTTTCT 0.416 2 4 --- --- --- --- LURAP1L 286343 broad.mit.edu 37 9 12775861 12775862 + In_Frame_Ins INS - - GGCGGCGGC rs3833707 by1000genomes TCGA-EM-A3FQ-01A-11D-A21A-08 TCGA-EM-A3FQ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79133e29-ba0b-4e2f-a6d9-bf294c5144f0 2125f0b1-c6b9-4b65-a6db-9fd4422e7c7e g.chr9:12775861_12775862insGGCGGCGGC ENST00000319264.3 + 1 842_843 c.147_148insGGCGGCGGC c.(145-150)gggcgg>ggGGCGGCGGCgcgg p.49_50GR>GAAAR RP11-3L8.3_ENST00000417638.1_RNA|LURAP1L_ENST00000489107.1_3'UTR NM_203403.1 NP_981948.1 Q8IV03 CI150_HUMAN leucine rich adaptor protein 1-like 49 Gly-rich. Missing. p.G49_G50insGGG(2)|p.G50_G52delGGG(1) gcggtggtggtggcggcggcgg 0.688 3 5 --- --- --- ---