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 TOPBP1 11073 broad.mit.edu 37 3 133342926 133342926 + Silent SNP T T C TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr3:133342926T>C ENST00000260810.5 - 17 3029 c.2898A>G c.(2896-2898)gtA>gtG p.V966V NM_007027.3 NP_008958.2 Q92547 TOPB1_HUMAN topoisomerase (DNA) II binding protein 1 966 BRCT 6. DNA repair|response to ionizing radiation microtubule organizing center|PML body|spindle pole DNA binding|protein C-terminus binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 40 AAACAATGTGTACTCCTCTTT 0.383000 Other conserved DNA damage response genes 21 43 0 0 0.000229342 0 0 FAM188B 84182 broad.mit.edu 37 7 30825445 30825445 + Missense_Mutation SNP C C T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr7:30825445C>T ENST00000265299.6 + 4 577 c.500C>T c.(499-501)aCg>aTg p.T167M INMT-FAM188B_ENST00000458257.1_3'UTR NM_032222.2 NP_115598.2 Q4G0A6 F188B_HUMAN family with sequence similarity 188, member B 167 endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 CCCATGCAGACGGTCCCGGGT 0.458000 60 97 0 0 0.000147903 0 0 ANAPC1 64682 broad.mit.edu 37 2 112620054 112620054 + Missense_Mutation SNP T T C TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr2:112620054T>C ENST00000341068.3 - 10 1946 c.1174A>G c.(1174-1176)Aat>Gat p.N392D NM_022662.3 NP_073153.1 Q9H1A4 APC1_HUMAN anaphase promoting complex subunit 1 392 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 49 AAGGAGCCATTAGAATTACTA 0.378000 6 24 0 0 8.12818e-05 0 0 ROBO2 6092 broad.mit.edu 37 3 77614158 77614158 + Missense_Mutation SNP T T A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr3:77614158T>A ENST00000461745.1 + 12 2636 c.1736T>A c.(1735-1737)cTc>cAc p.L579H ROBO2_ENST00000332191.8_Missense_Mutation_p.L579H|ROBO2_ENST00000487694.3_Missense_Mutation_p.L595H NM_002942.4 NP_002933.1 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 (Drosophila) 579 Fibronectin type-III 1. apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) AAGACCACCCTCTATACTGTA 0.463000 33 44 0 0 0.000339439 0 0 GRK1 6011 broad.mit.edu 37 13 114325879 114325879 + Missense_Mutation SNP C C T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr13:114325879C>T ENST00000335678.6 + 3 1125 c.893C>T c.(892-894)aCg>aTg p.T298M NM_002929.2 NP_002920.1 Q15835 RK_HUMAN G protein-coupled receptor kinase 1 298 Protein kinase. T -> M (in patients with autosomal recessive retinitis pigmentosa; unclear pathological significance). regulation of G-protein coupled receptor protein signaling pathway|rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway membrane ATP binding|G-protein coupled receptor kinase activity|rhodopsin kinase activity|signal transducer activity p.T298M(1) ovary(2) 2 Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839) all cancers(43;0.234) CTCTTCTACACGGCGCAGATC 0.632000 13 43 0 0 0.000219431 0 0 NSA2 10412 broad.mit.edu 37 5 74066519 74066519 + Missense_Mutation SNP A A C TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr5:74066519A>C ENST00000296802.5 + 4 775 c.406A>C c.(406-408)Att>Ctt p.I136L NSA2_ENST00000513356.1_3'UTR NM_014886.3 NP_055701.1 O95478 NSA2_HUMAN NSA2 ribosome biogenesis homolog (S. cerevisiae) 136 Lys-rich. rRNA processing nucleolus|ribonucleoprotein complex breast(1)|endometrium(2)|kidney(1)|lung(1)|ovary(1)|skin(1) 7 ATTAAAAGTTATTCGAACAGG 0.368000 22 59 0 0 0.000375601 0 0 ARHGEF18 23370 broad.mit.edu 37 19 7535101 7535101 + Missense_Mutation SNP G G A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr19:7535101G>A ENST00000359920.6 + 19 3692 c.3439G>A c.(3439-3441)Ggg>Agg p.G1147R CTD-2207O23.3_ENST00000593531.1_Missense_Mutation_p.1104_1104insP|ARHGEF18_ENST00000319670.9_Missense_Mutation_p.G989R NM_001130955.1 NP_001124427.1 Q6ZSZ5 ARHGI_HUMAN Rho/Rac guanine nucleotide exchange factor (GEF) 18 1147 Pro-rich. actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1) 23 Renal(5;0.0902) CCTCCTGCCCGGGCCCCCAGC 0.672000 42 47 0 0 0.000589545 0 0 MECOM 2122 broad.mit.edu 37 3 168810878 168810878 + Missense_Mutation SNP G G A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr3:168810878G>A ENST00000464456.1 - 12 3641 c.2441C>T c.(2440-2442)tCg>tTg p.S814L MECOM_ENST00000264674.3_Missense_Mutation_p.S888L|MECOM_ENST00000433243.2_Missense_Mutation_p.S824L|MECOM_ENST00000460814.1_Missense_Mutation_p.S814L|MECOM_ENST00000472280.1_Missense_Mutation_p.S824L|MECOM_ENST00000494292.1_Missense_Mutation_p.S1002L|MECOM_ENST00000392736.3_Missense_Mutation_p.S823L|MECOM_ENST00000468789.1_Missense_Mutation_p.S823L NM_001164000.1 NP_001157472.1 Q13465 MDS1_HUMAN MDS1 and EVI1 complex locus 0 sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 85 ATGAGGCGACGATGTTGCTGT 0.388000 39 64 0 0 0.000319135 0 0 ZNF845 91664 broad.mit.edu 37 19 53856761 53856761 + Missense_Mutation SNP T T C TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr19:53856761T>C ENST00000458035.1 + 4 2950 c.2833T>C c.(2833-2835)Tgt>Cgt p.C945R ZNF845_ENST00000595091.1_Missense_Mutation_p.C945R NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 945 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.C945R(1) endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 ACCTTACAAGTGTAATGAATG 0.348000 3 29 0 0 6.4e-05 0 0 IDH1 3417 broad.mit.edu 37 2 209113113 209113113 + Missense_Mutation SNP G G C rs121913499 TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr2:209113113G>C ENST00000415913.1 - 4 775 c.394C>G c.(394-396)Cgt>Ggt p.R132G IDH1_ENST00000345146.2_Missense_Mutation_p.R132G|IDH1_ENST00000446179.1_Missense_Mutation_p.R132G O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) TAAGCATGACGACCTATGATG 0.398000 Mis gliobastoma 20 53 0 0 0.000295444 0 0 ZBTB48 3104 broad.mit.edu 37 1 6648255 6648255 + Splice_Site SNP A A T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr1:6648255A>T ENST00000377674.4 + 8 1673 c.1516_splice c.e8+1 p.Q505_splice NM_001278647.1|NM_001278648.1|NM_005341.2 NP_001265576.1|NP_001265577.1|NP_005332.1 P10074 ZBT48_HUMAN zinc finger and BTB domain containing 48 505 cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|urinary_tract(1) 11 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156) Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642) TCCGAACCCAAGGTGAGGTAC 0.622000 19 34 0 0 0.000132079 0 0 NOS1AP 9722 broad.mit.edu 37 1 162313729 162313729 + Silent SNP A A G TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr1:162313729A>G ENST00000361897.5 + 6 960 c.558A>G c.(556-558)ggA>ggG p.G186G NOS1AP_ENST00000530878.1_Silent_p.G181G NM_001164757.1|NM_014697.2 NP_001158229.1|NP_055512.1 O75052 CAPON_HUMAN nitric oxide synthase 1 (neuronal) adaptor protein 186 PID. regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity nitric-oxide synthase binding|PDZ domain binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2) 32 all_hematologic(112;0.203) BRCA - Breast invasive adenocarcinoma(70;0.0537) AGGAAGATGGAGAGAGCGAGA 0.587000 3 66 0 0 6.4e-05 0 0 SPAG5 10615 broad.mit.edu 37 17 26910636 26910636 + Nonsense_Mutation SNP G G A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr17:26910636G>A ENST00000321765.5 - 15 2910 c.2578C>T c.(2578-2580)Cag>Tag p.Q860* NM_006461.3 NP_006452.3 Q96R06 SPAG5_HUMAN sperm associated antigen 5 860 cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization condensed chromosome kinetochore|cytoplasm|spindle pole protein binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 43 Lung NSC(42;0.00431) TCTTGCTCCTGGTTATCTGCT 0.468000 4 107 0 0 1.23904e-05 0 0 CDH3 1001 broad.mit.edu 37 16 68713813 68713813 + Missense_Mutation SNP T T C TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr16:68713813T>C ENST00000264012.4 + 7 1347 c.803T>C c.(802-804)cTc>cCc p.L268P CDH3_ENST00000581171.1_Missense_Mutation_p.L213P|CDH3_ENST00000429102.2_Missense_Mutation_p.L268P NM_001793.4 NP_001784.2 P22223 CADH3_HUMAN cadherin 3, type 1, P-cadherin (placental) 268 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception integral to membrane calcium ion binding p.?(2) NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1) 25 Ovarian(137;0.0564) OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384) CCACACGACCTCATGTTCACC 0.552000 4 98 0 0 0.00024832 0 0 CEACAM20 125931 broad.mit.edu 37 19 45029262 45029262 + RNA SNP A A G TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr19:45029262A>G ENST00000454753.1 - 0 346 Q6UY09 CEA20_HUMAN carcinoembryonic antigen-related cell adhesion molecule 20 integral to membrane central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1) 15 Prostate(69;0.0352) AGGACTCCATACGGTACAAAG 0.587000 35 85 0 0 0.000270559 0 0 MCMBP 79892 broad.mit.edu 37 10 121595126 121595126 + Missense_Mutation SNP C C T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr10:121595126C>T ENST00000360003.3 - 14 1808 c.1639G>A c.(1639-1641)Gtg>Atg p.V547M MCMBP_ENST00000466047.1_5'UTR|MCMBP_ENST00000369077.3_Missense_Mutation_p.V545M NM_001256378.1|NM_001256379.1|NM_024834.3 NP_001243307.1|NP_001243308.1|NP_079110.1 Q9BTE3 MCMBP_HUMAN minichromosome maintenance complex binding protein 547 cell division|DNA-dependent DNA replication|mitosis|S phase of mitotic cell cycle|sister chromatid cohesion nucleus chromatin binding breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2) 21 TTGTTCAGCACGGAAGGCAGC 0.418000 38 72 0 0 0.000228196 0 0 MUC5B 727897 broad.mit.edu 37 11 1255481 1255481 + Silent SNP G G A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr11:1255481G>A ENST00000447027.1 + 20 2491 c.2433G>A c.(2431-2433)gcG>gcA p.A811A MUC5B_ENST00000529681.1_Silent_p.A808A Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 808 TIL 3. P -> L (in Ref. 2; AAC67545). cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) ACAGCTCGGCGGGCACCCCTG 0.692000 6 16 0 0 0.000157383 0 0 ALPI 248 broad.mit.edu 37 2 233322371 233322371 + Missense_Mutation SNP G G A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr2:233322371G>A ENST00000295463.3 + 6 822 c.745G>A c.(745-747)Ggg>Agg p.G249R NM_001631.3 NP_001622.2 P09923 PPBI_HUMAN alkaline phosphatase, intestinal 249 phosphorylation anchored to membrane|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1) 24 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746) CAGGCTGGACGGGAAGAACCT 0.622000 14 40 0 0 0.000308642 0 0 CLTCL1 8218 broad.mit.edu 37 22 19198013 19198013 + Silent SNP T T C TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr22:19198013T>C ENST00000263200.10 - 20 3144 c.3072A>G c.(3070-3072)ctA>ctG p.L1024L CLTCL1_ENST00000353891.5_Silent_p.L1024L|CLTCL1_ENST00000427926.1_Silent_p.L1024L NM_007098.3 NP_009029.3 P53675 CLH2_HUMAN clathrin, heavy chain-like 1 1024 Heavy chain arm.|Proximal segment. anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network protein binding|signal transducer activity|structural molecule activity breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 Colorectal(54;0.0993) ACAGATTCTGTAGATTCCTGA 0.552000 T ? ALCL 3 47 0 0 1.23904e-05 0 0 FLT3 2322 broad.mit.edu 37 13 28610092 28610092 + Silent SNP C C T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr13:28610092C>T ENST00000380982.4 - 11 1479 c.1398G>A c.(1396-1398)aaG>aaA p.K466K FLT3_ENST00000537084.1_Silent_p.K466K|FLT3_ENST00000241453.7_Silent_p.K466K P36888 FLT3_HUMAN fms-related tyrosine kinase 3 466 positive regulation of cell proliferation integral to plasma membrane ATP binding|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 12390 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0156)|Ovarian(182;0.0392) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212) Sorafenib(DB00398)|Sunitinib(DB01268) TGTCTGAACACTTCTTCCAGG 0.423000 """Mis, O""" """AML, ALL""" 8 296 0 0 0.000442599 0 0 SMG1 23049 broad.mit.edu 37 16 18823153 18823153 + Missense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr16:18823153C>A ENST00000446231.2 - 62 11250 c.10838G>T c.(10837-10839)tGg>tTg p.W3613L RP11-1035H13.2_ENST00000569096.1_RNA|SMG1_ENST00000389467.3_Missense_Mutation_p.W3614L Q96Q15 SMG1_HUMAN SMG1 phosphatidylinositol 3-kinase-related kinase 3613 DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1) 92 CACTCTCTTCCACACACTCAC 0.418000 9 499 0.000274275 0.00701996 0.000274275 1 0 TMEM211 255349 broad.mit.edu 37 22 25331314 25331314 + Nonsense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr22:25331314C>A ENST00000407886.1 - 4 628 c.376G>T c.(376-378)Gaa>Taa p.E126* TMEM211_ENST00000423535.1_Nonsense_Mutation_p.E197*|TMEM211_ENST00000382744.1_Nonsense_Mutation_p.E126* Q6ICI0 TM211_HUMAN transmembrane protein 211 197 integral to membrane endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1) 8 TTGTTCATTTCTGGCACAAAG 0.493000 42 80 3.54909e-21 9.60282e-20 0.000589545 1 0 FOXS1 2307 broad.mit.edu 37 20 30432472 30432472 + Missense_Mutation SNP G G A rs2296917 TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr20:30432472G>A ENST00000375978.3 - 1 948 c.874C>T c.(874-876)Cca>Tca p.P292S NM_004118.3 NP_004109.1 O43638 FOXS1_HUMAN forkhead box S1 292 P -> A (in dbSNP:rs2296917). anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis transcription factor complex chromatin DNA binding|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 kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1) 9 TGGTCAGTTGGCAGGGGCAGT 0.687000 5 40 0 0 1.23904e-05 0 0 FAM211B 388886 broad.mit.edu 37 22 24982284 24982284 + Missense_Mutation SNP C C T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr22:24982284C>T ENST00000318753.8 - 4 541 c.518G>A c.(517-519)cGc>cAc p.R173H GGT1_ENST00000248923.4_Intron NM_207644.2 NP_997527.2 Q2VPJ9 LRC6X_HUMAN family with sequence similarity 211, member B 173 GCTCAGGTAGCGTGTGATGTG 0.627000 81 130 0 0 0.000147903 0 0 ARNT2 9915 broad.mit.edu 37 15 80866543 80866543 + Silent SNP A A T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr15:80866543A>T ENST00000533983.1 + 14 1677 c.1338A>T c.(1336-1338)tcA>tcT p.S446S ARNT2_ENST00000303329.4_Silent_p.S457S|ARNT2_ENST00000527771.1_Silent_p.S446S Q9HBZ2 ARNT2_HUMAN aryl-hydrocarbon receptor nuclear translocator 2 457 central nervous system development|in utero embryonic development|response to hypoxia aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1) 35 BRCA - Breast invasive adenocarcinoma(143;0.134) ATGGATTGTCATCGTATGACT 0.483000 29 58 0 0 0.000409698 0 0 SDK2 54549 broad.mit.edu 37 17 71334988 71334988 + Missense_Mutation SNP G G A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr17:71334988G>A ENST00000392650.3 - 45 6257 c.6257C>T c.(6256-6258)tCg>tTg p.S2086L SDK2_ENST00000388726.3_Missense_Mutation_p.S2067L|SDK2_ENST00000410094.1_5'UTR NM_001144952.1 NP_001138424.1 Q58EX2 SDK2_HUMAN sidekick cell adhesion molecule 2 2086 cell adhesion integral to membrane breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 86 TCGCCGCCACGAGTTGTAGTA 0.592000 14 40 0 0 0.000422831 0 0 COL15A1 1306 broad.mit.edu 37 9 101785643 101785643 + Missense_Mutation SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr9:101785643G>T ENST00000375001.3 + 14 2189 c.1766G>T c.(1765-1767)gGa>gTa p.G589V NM_001855.3 NP_001846.3 P39059 COFA1_HUMAN collagen, type XV, alpha 1 589 Nonhelical region 2 (NC2). angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 107 Acute lymphoblastic leukemia(62;0.0562) TTCCAGGCAGGAGCAGAAGCA 0.547000 25 43 6.32553e-13 1.66397e-11 9.22233e-05 1 0 ELAVL4 1996 broad.mit.edu 37 1 50642827 50642827 + Missense_Mutation SNP C C T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr1:50642827C>T ENST00000371824.1 + 3 574 c.317C>T c.(316-318)aCt>aTt p.T106I ELAVL4_ENST00000492299.1_3'UTR|ELAVL4_ENST00000357083.4_Missense_Mutation_p.T123I|ELAVL4_ENST00000371823.4_Missense_Mutation_p.T106I|ELAVL4_ENST00000448907.2_Missense_Mutation_p.T109I|ELAVL4_ENST00000371827.1_Missense_Mutation_p.T106I|ELAVL4_ENST00000371821.1_Missense_Mutation_p.T111I|ELAVL4_ENST00000371819.1_Missense_Mutation_p.T111I P26378 ELAV4_HUMAN ELAV like neuron-specific RNA binding protein 4 106 RRM 1. mRNA processing AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 32 GCCATCAACACTTTAAATGGA 0.398000 22 47 0 0 0.000295444 0 0 CDH3 1001 broad.mit.edu 37 16 68713813 68713813 + Missense_Mutation SNP T T C TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 1085fb8c-f27d-4ae2-b012-a581900b5a02 g.chr16:68713813T>C ENST00000264012.4 + 7 1347 c.803T>C c.(802-804)cTc>cCc p.L268P CDH3_ENST00000581171.1_Missense_Mutation_p.L213P|CDH3_ENST00000429102.2_Missense_Mutation_p.L268P NM_001793.4 NP_001784.2 P22223 CADH3_HUMAN cadherin 3, type 1, P-cadherin (placental) 268 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception integral to membrane calcium ion binding p.?(2) NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1) 25 Ovarian(137;0.0564) OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384) CCACACGACCTCATGTTCACC 0.552000 4 98 0 0 0.00024832 0 0 TOPBP1 11073 broad.mit.edu 37 3 133342926 133342926 + Silent SNP T T C TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 1085fb8c-f27d-4ae2-b012-a581900b5a02 g.chr3:133342926T>C ENST00000260810.5 - 17 3029 c.2898A>G c.(2896-2898)gtA>gtG p.V966V NM_007027.3 NP_008958.2 Q92547 TOPB1_HUMAN topoisomerase (DNA) II binding protein 1 966 BRCT 6. DNA repair|response to ionizing radiation microtubule organizing center|PML body|spindle pole DNA binding|protein C-terminus binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 40 AAACAATGTGTACTCCTCTTT 0.383000 Other conserved DNA damage response genes 21 43 0 0 0.000229342 0 0 FAM188B 84182 broad.mit.edu 37 7 30825445 30825445 + Missense_Mutation SNP C C T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 1085fb8c-f27d-4ae2-b012-a581900b5a02 g.chr7:30825445C>T ENST00000265299.6 + 4 577 c.500C>T c.(499-501)aCg>aTg p.T167M INMT-FAM188B_ENST00000458257.1_3'UTR NM_032222.2 NP_115598.2 Q4G0A6 F188B_HUMAN family with sequence similarity 188, member B 167 endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 CCCATGCAGACGGTCCCGGGT 0.458000 60 97 0 0 0.000147903 0 0 ANAPC1 64682 broad.mit.edu 37 2 112620054 112620054 + Missense_Mutation SNP T T C TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 1085fb8c-f27d-4ae2-b012-a581900b5a02 g.chr2:112620054T>C ENST00000341068.3 - 10 1946 c.1174A>G c.(1174-1176)Aat>Gat p.N392D NM_022662.3 NP_073153.1 Q9H1A4 APC1_HUMAN anaphase promoting complex subunit 1 392 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 49 AAGGAGCCATTAGAATTACTA 0.378000 6 24 0 0 8.12818e-05 0 0 ROBO2 6092 broad.mit.edu 37 3 77614158 77614158 + Missense_Mutation SNP T T A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 1085fb8c-f27d-4ae2-b012-a581900b5a02 g.chr3:77614158T>A ENST00000461745.1 + 12 2636 c.1736T>A c.(1735-1737)cTc>cAc p.L579H ROBO2_ENST00000332191.8_Missense_Mutation_p.L579H|ROBO2_ENST00000487694.3_Missense_Mutation_p.L595H NM_002942.4 NP_002933.1 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 (Drosophila) 579 Fibronectin type-III 1. apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) AAGACCACCCTCTATACTGTA 0.463000 33 44 0 0 0.000339439 0 0 GRK1 6011 broad.mit.edu 37 13 114325879 114325879 + Missense_Mutation SNP C C T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 1085fb8c-f27d-4ae2-b012-a581900b5a02 g.chr13:114325879C>T ENST00000335678.6 + 3 1125 c.893C>T c.(892-894)aCg>aTg p.T298M NM_002929.2 NP_002920.1 Q15835 RK_HUMAN G protein-coupled receptor kinase 1 298 Protein kinase. T -> M (in patients with autosomal recessive retinitis pigmentosa; unclear pathological significance). regulation of G-protein coupled receptor protein signaling pathway|rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway membrane ATP binding|G-protein coupled receptor kinase activity|rhodopsin kinase activity|signal transducer activity p.T298M(1) ovary(2) 2 Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839) all cancers(43;0.234) CTCTTCTACACGGCGCAGATC 0.632000 13 43 0 0 0.000219431 0 0 MECOM 2122 broad.mit.edu 37 3 168810878 168810878 + Missense_Mutation SNP G G A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 1085fb8c-f27d-4ae2-b012-a581900b5a02 g.chr3:168810878G>A ENST00000464456.1 - 12 3641 c.2441C>T c.(2440-2442)tCg>tTg p.S814L MECOM_ENST00000433243.2_Missense_Mutation_p.S824L|MECOM_ENST00000264674.3_Missense_Mutation_p.S888L|MECOM_ENST00000460814.1_Missense_Mutation_p.S814L|MECOM_ENST00000392736.3_Missense_Mutation_p.S823L|MECOM_ENST00000472280.1_Missense_Mutation_p.S824L|MECOM_ENST00000468789.1_Missense_Mutation_p.S823L|MECOM_ENST00000494292.1_Missense_Mutation_p.S1002L NM_001164000.1 NP_001157472.1 Q13465 MDS1_HUMAN MDS1 and EVI1 complex locus 0 sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 85 ATGAGGCGACGATGTTGCTGT 0.388000 39 64 0 0 0.000319135 0 0 FAM211B 388886 broad.mit.edu 37 22 24982284 24982284 + Missense_Mutation SNP C C T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 1085fb8c-f27d-4ae2-b012-a581900b5a02 g.chr22:24982284C>T ENST00000318753.8 - 4 541 c.518G>A c.(517-519)cGc>cAc p.R173H GGT1_ENST00000248923.4_Intron NM_207644.2 NP_997527.2 Q2VPJ9 LRC6X_HUMAN family with sequence similarity 211, member B 173 GCTCAGGTAGCGTGTGATGTG 0.627000 81 130 0 0 0.000147903 0 0 ARHGEF18 23370 broad.mit.edu 37 19 7535101 7535101 + Missense_Mutation SNP G G A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 1085fb8c-f27d-4ae2-b012-a581900b5a02 g.chr19:7535101G>A ENST00000359920.6 + 19 3692 c.3439G>A c.(3439-3441)Ggg>Agg p.G1147R CTD-2207O23.3_ENST00000593531.1_Missense_Mutation_p.1104_1104insP|ARHGEF18_ENST00000319670.9_Missense_Mutation_p.G989R NM_001130955.1 NP_001124427.1 Q6ZSZ5 ARHGI_HUMAN Rho/Rac guanine nucleotide exchange factor (GEF) 18 1147 Pro-rich. actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1) 23 Renal(5;0.0902) CCTCCTGCCCGGGCCCCCAGC 0.672000 42 47 0 0 0.000589545 0 0 RRN3P1 0 broad.mit.edu 37 16 21817457 21817457 + RNA SNP G G A rs150520281 by1000genomes TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 1085fb8c-f27d-4ae2-b012-a581900b5a02 g.chr16:21817457G>A ENST00000546471.1 - 0 1601 CTTACATCCAGCTTGAGTAGT 0.259000 6 24 0 0 0.000157383 0 0 IDH1 3417 broad.mit.edu 37 2 209113113 209113113 + Missense_Mutation SNP G G C rs121913499 TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 1085fb8c-f27d-4ae2-b012-a581900b5a02 g.chr2:209113113G>C ENST00000415913.1 - 4 775 c.394C>G c.(394-396)Cgt>Ggt p.R132G IDH1_ENST00000345146.2_Missense_Mutation_p.R132G|IDH1_ENST00000446179.1_Missense_Mutation_p.R132G O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) TAAGCATGACGACCTATGATG 0.398000 Mis gliobastoma 20 53 0 0 0.000295444 0 0 SDK2 54549 broad.mit.edu 37 17 71334988 71334988 + Missense_Mutation SNP G G A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 1085fb8c-f27d-4ae2-b012-a581900b5a02 g.chr17:71334988G>A ENST00000392650.3 - 45 6257 c.6257C>T c.(6256-6258)tCg>tTg p.S2086L SDK2_ENST00000410094.1_5'UTR|SDK2_ENST00000388726.3_Missense_Mutation_p.S2067L NM_001144952.1 NP_001138424.1 Q58EX2 SDK2_HUMAN sidekick cell adhesion molecule 2 2086 cell adhesion integral to membrane breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 86 TCGCCGCCACGAGTTGTAGTA 0.592000 14 40 0 0 0.000422831 0 0 ZBTB48 3104 broad.mit.edu 37 1 6648255 6648255 + Splice_Site SNP A A T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 1085fb8c-f27d-4ae2-b012-a581900b5a02 g.chr1:6648255A>T ENST00000377674.4 + 8 1673 c.1516_splice c.e8+1 p.Q505_splice NM_001278647.1|NM_001278648.1|NM_005341.2 NP_001265576.1|NP_001265577.1|NP_005332.1 P10074 ZBT48_HUMAN zinc finger and BTB domain containing 48 505 cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|urinary_tract(1) 11 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156) Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642) TCCGAACCCAAGGTGAGGTAC 0.622000 19 34 0 0 0.000132079 0 0 ARNT2 9915 broad.mit.edu 37 15 80866543 80866543 + Silent SNP A A T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 1085fb8c-f27d-4ae2-b012-a581900b5a02 g.chr15:80866543A>T ENST00000533983.1 + 14 1677 c.1338A>T c.(1336-1338)tcA>tcT p.S446S ARNT2_ENST00000527771.1_Silent_p.S446S|ARNT2_ENST00000303329.4_Silent_p.S457S Q9HBZ2 ARNT2_HUMAN aryl-hydrocarbon receptor nuclear translocator 2 457 central nervous system development|in utero embryonic development|response to hypoxia aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1) 35 BRCA - Breast invasive adenocarcinoma(143;0.134) ATGGATTGTCATCGTATGACT 0.483000 29 58 0 0 0.000409698 0 0 SPAG5 10615 broad.mit.edu 37 17 26910636 26910636 + Nonsense_Mutation SNP G G A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 1085fb8c-f27d-4ae2-b012-a581900b5a02 g.chr17:26910636G>A ENST00000321765.5 - 15 2910 c.2578C>T c.(2578-2580)Cag>Tag p.Q860* NM_006461.3 NP_006452.3 Q96R06 SPAG5_HUMAN sperm associated antigen 5 860 cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization condensed chromosome kinetochore|cytoplasm|spindle pole protein binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 43 Lung NSC(42;0.00431) TCTTGCTCCTGGTTATCTGCT 0.468000 4 107 0 0 1.23904e-05 0 0 NSA2 10412 broad.mit.edu 37 5 74066519 74066519 + Missense_Mutation SNP A A C TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 1085fb8c-f27d-4ae2-b012-a581900b5a02 g.chr5:74066519A>C ENST00000296802.5 + 4 775 c.406A>C c.(406-408)Att>Ctt p.I136L NSA2_ENST00000513356.1_3'UTR NM_014886.3 NP_055701.1 O95478 NSA2_HUMAN NSA2 ribosome biogenesis homolog (S. cerevisiae) 136 Lys-rich. rRNA processing nucleolus|ribonucleoprotein complex breast(1)|endometrium(2)|kidney(1)|lung(1)|ovary(1)|skin(1) 7 ATTAAAAGTTATTCGAACAGG 0.368000 22 59 0 0 0.000375601 0 0 NOS1AP 9722 broad.mit.edu 37 1 162313729 162313729 + Silent SNP A A G TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 1085fb8c-f27d-4ae2-b012-a581900b5a02 g.chr1:162313729A>G ENST00000361897.5 + 6 960 c.558A>G c.(556-558)ggA>ggG p.G186G NOS1AP_ENST00000530878.1_Silent_p.G181G NM_001164757.1|NM_014697.2 NP_001158229.1|NP_055512.1 O75052 CAPON_HUMAN nitric oxide synthase 1 (neuronal) adaptor protein 186 PID. regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity nitric-oxide synthase binding|PDZ domain binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2) 32 all_hematologic(112;0.203) BRCA - Breast invasive adenocarcinoma(70;0.0537) AGGAAGATGGAGAGAGCGAGA 0.587000 3 66 0 0 6.4e-05 0 0 TMEM211 255349 broad.mit.edu 37 22 25331314 25331314 + Nonsense_Mutation SNP C C A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 1085fb8c-f27d-4ae2-b012-a581900b5a02 g.chr22:25331314C>A ENST00000407886.1 - 4 628 c.376G>T c.(376-378)Gaa>Taa p.E126* TMEM211_ENST00000382744.1_Nonsense_Mutation_p.E126*|TMEM211_ENST00000423535.1_Nonsense_Mutation_p.E197* Q6ICI0 TM211_HUMAN transmembrane protein 211 197 integral to membrane endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1) 8 TTGTTCATTTCTGGCACAAAG 0.493000 42 80 3.54909e-21 8.63264e-20 0.000589545 1 0 FOXS1 2307 broad.mit.edu 37 20 30432472 30432472 + Missense_Mutation SNP G G A rs2296917 TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 1085fb8c-f27d-4ae2-b012-a581900b5a02 g.chr20:30432472G>A ENST00000375978.3 - 1 948 c.874C>T c.(874-876)Cca>Tca p.P292S NM_004118.3 NP_004109.1 O43638 FOXS1_HUMAN forkhead box S1 292 P -> A (in dbSNP:rs2296917). anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis transcription factor complex chromatin DNA binding|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 kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1) 9 TGGTCAGTTGGCAGGGGCAGT 0.687000 5 40 0 0 1.23904e-05 0 0 CEACAM20 125931 broad.mit.edu 37 19 45029262 45029262 + RNA SNP A A G TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 1085fb8c-f27d-4ae2-b012-a581900b5a02 g.chr19:45029262A>G ENST00000454753.1 - 0 346 Q6UY09 CEA20_HUMAN carcinoembryonic antigen-related cell adhesion molecule 20 integral to membrane central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1) 15 Prostate(69;0.0352) AGGACTCCATACGGTACAAAG 0.587000 35 85 0 0 0.000270559 0 0 MCMBP 79892 broad.mit.edu 37 10 121595126 121595126 + Missense_Mutation SNP C C T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 1085fb8c-f27d-4ae2-b012-a581900b5a02 g.chr10:121595126C>T ENST00000360003.3 - 14 1808 c.1639G>A c.(1639-1641)Gtg>Atg p.V547M MCMBP_ENST00000466047.1_5'UTR|MCMBP_ENST00000369077.3_Missense_Mutation_p.V545M NM_001256378.1|NM_001256379.1|NM_024834.3 NP_001243307.1|NP_001243308.1|NP_079110.1 Q9BTE3 MCMBP_HUMAN minichromosome maintenance complex binding protein 547 cell division|DNA-dependent DNA replication|mitosis|S phase of mitotic cell cycle|sister chromatid cohesion nucleus chromatin binding breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2) 21 TTGTTCAGCACGGAAGGCAGC 0.418000 38 72 0 0 0.000228196 0 0 MUC5B 727897 broad.mit.edu 37 11 1255481 1255481 + Silent SNP G G A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 1085fb8c-f27d-4ae2-b012-a581900b5a02 g.chr11:1255481G>A ENST00000447027.1 + 20 2491 c.2433G>A c.(2431-2433)gcG>gcA p.A811A MUC5B_ENST00000529681.1_Silent_p.A808A Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 808 TIL 3. P -> L (in Ref. 2; AAC67545). cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) ACAGCTCGGCGGGCACCCCTG 0.692000 6 16 0 0 0.000157383 0 0 ALPI 248 broad.mit.edu 37 2 233322371 233322371 + Missense_Mutation SNP G G A TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 1085fb8c-f27d-4ae2-b012-a581900b5a02 g.chr2:233322371G>A ENST00000295463.3 + 6 822 c.745G>A c.(745-747)Ggg>Agg p.G249R NM_001631.3 NP_001622.2 P09923 PPBI_HUMAN alkaline phosphatase, intestinal 249 phosphorylation anchored to membrane|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1) 24 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746) CAGGCTGGACGGGAAGAACCT 0.622000 14 40 0 0 0.000308642 0 0 FLT3 2322 broad.mit.edu 37 13 28610092 28610092 + Silent SNP C C T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 1085fb8c-f27d-4ae2-b012-a581900b5a02 g.chr13:28610092C>T ENST00000380982.4 - 11 1479 c.1398G>A c.(1396-1398)aaG>aaA p.K466K FLT3_ENST00000241453.7_Silent_p.K466K|FLT3_ENST00000537084.1_Silent_p.K466K P36888 FLT3_HUMAN fms-related tyrosine kinase 3 466 positive regulation of cell proliferation integral to plasma membrane ATP binding|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 12390 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0156)|Ovarian(182;0.0392) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212) Sorafenib(DB00398)|Sunitinib(DB01268) TGTCTGAACACTTCTTCCAGG 0.423000 """Mis, O""" """AML, ALL""" 8 296 0 0 0.000442599 0 0 COL15A1 1306 broad.mit.edu 37 9 101785643 101785643 + Missense_Mutation SNP G G T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 1085fb8c-f27d-4ae2-b012-a581900b5a02 g.chr9:101785643G>T ENST00000375001.3 + 14 2189 c.1766G>T c.(1765-1767)gGa>gTa p.G589V NM_001855.3 NP_001846.3 P39059 COFA1_HUMAN collagen, type XV, alpha 1 589 Nonhelical region 2 (NC2). angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 107 Acute lymphoblastic leukemia(62;0.0562) TTCCAGGCAGGAGCAGAAGCA 0.547000 25 43 6.32553e-13 1.49463e-11 9.22233e-05 1 0 CLTCL1 8218 broad.mit.edu 37 22 19198013 19198013 + Silent SNP T T C TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 1085fb8c-f27d-4ae2-b012-a581900b5a02 g.chr22:19198013T>C ENST00000263200.10 - 20 3144 c.3072A>G c.(3070-3072)ctA>ctG p.L1024L CLTCL1_ENST00000353891.5_Silent_p.L1024L|CLTCL1_ENST00000427926.1_Silent_p.L1024L NM_007098.3 NP_009029.3 P53675 CLH2_HUMAN clathrin, heavy chain-like 1 1024 Heavy chain arm.|Proximal segment. anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network protein binding|signal transducer activity|structural molecule activity breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 Colorectal(54;0.0993) ACAGATTCTGTAGATTCCTGA 0.552000 T ? ALCL 3 47 0 0 1.23904e-05 0 0 ELAVL4 1996 broad.mit.edu 37 1 50642827 50642827 + Missense_Mutation SNP C C T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 1085fb8c-f27d-4ae2-b012-a581900b5a02 g.chr1:50642827C>T ENST00000371824.1 + 3 574 c.317C>T c.(316-318)aCt>aTt p.T106I ELAVL4_ENST00000357083.4_Missense_Mutation_p.T123I|ELAVL4_ENST00000371819.1_Missense_Mutation_p.T111I|ELAVL4_ENST00000448907.2_Missense_Mutation_p.T109I|ELAVL4_ENST00000371823.4_Missense_Mutation_p.T106I|ELAVL4_ENST00000371821.1_Missense_Mutation_p.T111I|ELAVL4_ENST00000371827.1_Missense_Mutation_p.T106I|ELAVL4_ENST00000492299.1_3'UTR P26378 ELAV4_HUMAN ELAV like neuron-specific RNA binding protein 4 106 RRM 1. mRNA processing AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 32 GCCATCAACACTTTAAATGGA 0.398000 22 47 0 0 0.000295444 0 0 SDHAP1 0 broad.mit.edu 37 3 195713385 195713386 + RNA INS - - T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr3:195713385_195713386insT ENST00000427841.1 - 0 176 NR_003264.2 AAAGCATGAACTTACGGAATCT 0.401 4 9 --- --- --- --- DPY19L2P1 0 broad.mit.edu 37 7 35145789 35145793 + RNA DEL CTAAA CTAAA - rs76141590 TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr7:35145789_35145793delCTAAA ENST00000436258.1 - 0 1553_1557 GTGACTATCTCTAAACTACTTAGGA 0.190 2 4 --- --- --- --- SLC26A7 115111 broad.mit.edu 37 8 92406217 92406218 + Frame_Shift_Ins INS - - T rs149495064 TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr8:92406217_92406218insT ENST00000276609.3 + 18 2124_2125 c.1885_1886insT c.(1885-1887)tttfs p.F629fs SLC26A7_ENST00000520249.1_3'UTR|SLC26A7_ENST00000523719.1_Frame_Shift_Ins_p.F629fs|SLC26A7_ENST00000309536.2_Frame_Shift_Ins_p.F629fs NM_052832.2 NP_439897.1 Q8TE54 S26A7_HUMAN solute carrier family 26 (anion exchanger), member 7 629 STAS. basolateral plasma membrane|integral to membrane|recycling endosome membrane anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 50 BRCA - Breast invasive adenocarcinoma(11;0.00802) AGAGAAACCAATTTTTTTTGAA 0.342 14 84 --- --- --- --- FAM111B 374393 broad.mit.edu 37 11 58892377 58892377 + Frame_Shift_Del DEL A A - TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr11:58892377delA ENST00000343597.3 + 4 998 c.807delA c.(805-807)tcfs p.S269fs FAM111B_ENST00000411426.1_Frame_Shift_Del_p.S239fs|FAM111B_ENST00000529618.1_Frame_Shift_Del_p.S239fs NM_198947.3 NP_945185.1 Q6SJ93 F111B_HUMAN family with sequence similarity 111, member B 269 catalytic activity p.A273fs*9(1)|p.K272delK(1)|p.A273fs*26(1) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1) 40 TGGACATTTCAAAAAAAAAAG 0.313 7 36 --- --- --- --- MALAT1 0 broad.mit.edu 37 11 65273529 65273531 + RNA DEL TTG TTG - TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr11:65273529_65273531delTTG ENST00000534336.1 + 0 8297_8299 NR_002819.2 ACAACACGTATTGTTTTCTCAGG 0.414 21 66 --- --- --- --- TOX4 9878 broad.mit.edu 37 14 21961060 21961062 + In_Frame_Del DEL GCT GCT - TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr14:21961060_21961062delGCT ENST00000405508.1 + 8 1561_1563 c.1285_1287delGCT c.(1285-1287)del p.A434del TOX4_ENST00000262709.3_In_Frame_Del_p.A434del|TOX4_ENST00000448790.2_In_Frame_Del_p.A411del O94842 TOX4_HUMAN TOX high mobility group box family member 4 434 Gln/Pro-rich.|Poly-Ala. chromatin|nucleus|PTW/PP1 phosphatase complex DNA binding|protein binding p.A429A(1) large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_cancers(95;0.000465) Epithelial(56;6.61e-06)|all cancers(55;5.15e-05) GBM - Glioblastoma multiforme(265;0.0149) GGCAGCAGCAGCTGCTGCTGCTG 0.581 8 321 --- --- --- --- SNHG14 0 broad.mit.edu 37 15 25453558 25453560 + RNA DEL CTT CTT - rs71418028 TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr15:25453558_25453560delCTT ENST00000424208.1 + 0 2384 SNHG14_ENST00000450809.1_RNA|SNHG14_ENST00000424333.1_RNA NR_003305.1 CTTTGAGTGACTTCTTCTGCCCA 0.631 3 3 --- --- --- --- MIB1 57534 broad.mit.edu 37 18 19395662 19395663 + Frame_Shift_Ins INS - - T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr18:19395662_19395663insT ENST00000261537.6 + 11 1829_1830 c.1565_1566insT c.(1564-1566)gttfs p.V522fs MIB1_ENST00000578646.1_3'UTR NM_020774.2 NP_065825.1 Q86YT6 MIB1_HUMAN mindbomb E3 ubiquitin protein ligase 1 522 Notch signaling pathway centrosome|nuclear membrane|plasma membrane ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5) 27 STAD - Stomach adenocarcinoma(5;0.212) GGTAGTGCTGATTTGAATGCTC 0.411 21 61 --- --- --- --- RP5-1043L13.1 0 broad.mit.edu 37 20 58883399 58883400 + RNA INS - - T rs149794923 by1000genomes TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 dfd72dae-c8b6-4f2c-aedc-173dff182937 g.chr20:58883399_58883400insT ENST00000432910.1 + 0 332 NR_046099.1 ggaccgggaaacagatgcttac 0.569 3 3 --- --- --- --- MCC 4163 broad.mit.edu 37 5 112824048 112824049 + In_Frame_Ins INS - - GCC rs35336557 TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 1085fb8c-f27d-4ae2-b012-a581900b5a02 g.chr5:112824048_112824049insGCC ENST00000408903.3 - 1 478_479 c.63_64insGGC c.(61-66)gggcgg>ggGGCgcgg p.21_22GR>GAR NM_001085377.1 NP_001078846.1 P23508 CRCM_HUMAN mutated in colorectal cancers 549 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane protein binding|receptor activity endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766) ctgctgccgctgccgccgccgc 0.738 5 10 --- --- --- --- SLC26A7 115111 broad.mit.edu 37 8 92406217 92406218 + Frame_Shift_Ins INS - - T rs149495064 TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 1085fb8c-f27d-4ae2-b012-a581900b5a02 g.chr8:92406217_92406218insT ENST00000276609.3 + 18 2124_2125 c.1885_1886insT c.(1885-1887)tttfs p.F629fs SLC26A7_ENST00000309536.2_Frame_Shift_Ins_p.F629fs|SLC26A7_ENST00000520249.1_3'UTR|SLC26A7_ENST00000523719.1_Frame_Shift_Ins_p.F629fs NM_052832.2 NP_439897.1 Q8TE54 S26A7_HUMAN solute carrier family 26 (anion exchanger), member 7 629 STAS. basolateral plasma membrane|integral to membrane|recycling endosome membrane anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 50 BRCA - Breast invasive adenocarcinoma(11;0.00802) AGAGAAACCAATTTTTTTTGAA 0.342 14 84 --- --- --- --- TYSND1 219743 broad.mit.edu 37 10 71905802 71905819 + In_Frame_Del DEL CTCTCAGTTGATCCGCCT CTCTCAGTTGATCCGCCT - TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 1085fb8c-f27d-4ae2-b012-a581900b5a02 g.chr10:71905802_71905819delCTCTCAGTTGATCCGCCT ENST00000287078.6 - 1 523_540 c.524_541delAGGCGGATCAACTGAGAG c.(523-543)gcg>g p.EADQLRA175del TYSND1_ENST00000335494.5_In_Frame_Del_p.EADQLRA175del NM_173555.2 NP_775826.2 Q2T9J0 TYSD1_HUMAN trypsin domain containing 1 175 proteolysis peroxisome serine-type endopeptidase activity endometrium(2)|large_intestine(2)|liver(1)|lung(3)|prostate(1) 9 CAGCCCAGCGCTCTCAGTTGATCCGCCTCCTCGTCCTC 0.711 3 4 --- --- --- --- MALAT1 0 broad.mit.edu 37 11 65273529 65273531 + RNA DEL TTG TTG - TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 1085fb8c-f27d-4ae2-b012-a581900b5a02 g.chr11:65273529_65273531delTTG ENST00000534336.1 + 0 8297_8299 NR_002819.2 ACAACACGTATTGTTTTCTCAGG 0.414 21 66 --- --- --- --- TOX4 9878 broad.mit.edu 37 14 21961060 21961062 + In_Frame_Del DEL GCT GCT - TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 1085fb8c-f27d-4ae2-b012-a581900b5a02 g.chr14:21961060_21961062delGCT ENST00000405508.1 + 8 1561_1563 c.1285_1287delGCT c.(1285-1287)del p.A434del TOX4_ENST00000262709.3_In_Frame_Del_p.A434del|TOX4_ENST00000448790.2_In_Frame_Del_p.A411del O94842 TOX4_HUMAN TOX high mobility group box family member 4 434 Gln/Pro-rich.|Poly-Ala. chromatin|nucleus|PTW/PP1 phosphatase complex DNA binding|protein binding p.A429A(1) large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_cancers(95;0.000465) Epithelial(56;6.61e-06)|all cancers(55;5.15e-05) GBM - Glioblastoma multiforme(265;0.0149) GGCAGCAGCAGCTGCTGCTGCTG 0.581 8 321 --- --- --- --- MIB1 57534 broad.mit.edu 37 18 19395662 19395663 + Frame_Shift_Ins INS - - T TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 1085fb8c-f27d-4ae2-b012-a581900b5a02 g.chr18:19395662_19395663insT ENST00000261537.6 + 11 1829_1830 c.1565_1566insT c.(1564-1566)gttfs p.V522fs MIB1_ENST00000578646.1_3'UTR NM_020774.2 NP_065825.1 Q86YT6 MIB1_HUMAN mindbomb E3 ubiquitin protein ligase 1 522 Notch signaling pathway centrosome|nuclear membrane|plasma membrane ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5) 27 STAD - Stomach adenocarcinoma(5;0.212) GGTAGTGCTGATTTGAATGCTC 0.411 21 61 --- --- --- --- SF3A1 10291 broad.mit.edu 37 22 30742328 30742330 + In_Frame_Del DEL CTG CTG - rs141985009 byFrequency TCGA-EJ-7125-01A-11D-1961-08 TCGA-EJ-7125-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3b6ef37-9e52-418b-816f-a2b670b1fda9 1085fb8c-f27d-4ae2-b012-a581900b5a02 g.chr22:30742328_30742330delCTG ENST00000215793.7 - 3 518_520 c.364_366delCAG c.(364-366)del p.Q122del SF3A1_ENST00000439242.1_Intron NM_005877.4 NP_005868.1 Q15459 SF3A1_HUMAN splicing factor 3a, subunit 1, 120kDa 122 Poly-Gln. nuclear mRNA 3'-splice site recognition catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex protein binding|RNA binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1) 29 GCTGGGTGGTCTGCTGCTGCTGC 0.606 7 165 --- --- --- ---