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 NOX5 79400 broad.mit.edu 37 15 69331268 69331268 + Silent SNP C C A TCGA-CE-A3MD-01A-11D-A20C-08 TCGA-CE-A3MD-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 110e918d-199b-41f0-a655-4c3a1f6989c9 4cd738dc-c677-4206-a16e-f2977c086706 g.chr15:69331268C>A ENST00000260364.5 + 10 1690 c.1389C>A c.(1387-1389)atC>atA p.I463I RP11-809H16.4_ENST00000559495.1_RNA|NOX5_ENST00000448182.3_Silent_p.I435I|NOX5_ENST00000388866.3_Silent_p.I481I|NOX5_ENST00000530406.2_Silent_p.I453I|NOX5_ENST00000455873.3_Silent_p.I446I Q96PH1 NOX5_HUMAN NADPH oxidase, EF-hand calcium binding domain 5 481 C-terminal catalytic region.|FAD-binding FR-type. angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation endoplasmic reticulum|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 ATCTGAACATCCCCACCATTG 0.507000 100 210 7.97055e-49 1.05325e-48 0.870114 1 0 ERC1 23085 broad.mit.edu 37 12 1225197 1225197 + Nonsense_Mutation SNP G G T TCGA-CE-A3MD-01A-11D-A20C-08 TCGA-CE-A3MD-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 110e918d-199b-41f0-a655-4c3a1f6989c9 4cd738dc-c677-4206-a16e-f2977c086706 g.chr12:1225197G>T ENST00000397203.2 + 7 1973 c.1567G>T c.(1567-1569)Gag>Tag p.E523* ERC1_ENST00000536573.2_3'UTR|ERC1_ENST00000360905.4_Nonsense_Mutation_p.E523*|ERC1_ENST00000355446.5_Nonsense_Mutation_p.E523*|ERC1_ENST00000546231.2_Nonsense_Mutation_p.E523*|ERC1_ENST00000543086.3_Nonsense_Mutation_p.E495*|ERC1_ENST00000589028.1_Nonsense_Mutation_p.E523* Q8IUD2 RB6I2_HUMAN ELKS/RAB6-interacting/CAST family member 1 523 I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport Golgi membrane|IkappaB kinase complex|presynaptic membrane leucine zipper domain binding NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 all_epithelial(11;0.0698)|Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567) CCTGCAGACTGAGGTAGAAAC 0.428000 47 115 3.30226e-22 4.07279e-22 0.870114 1 0 NBPF10 100132406 broad.mit.edu 37 1 145367739 145367739 + Silent SNP A A G rs146714035 by1000genomes TCGA-CE-A3MD-01A-11D-A20C-08 TCGA-CE-A3MD-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 110e918d-199b-41f0-a655-4c3a1f6989c9 4cd738dc-c677-4206-a16e-f2977c086706 g.chr1:145367739A>G ENST00000342960.5 + 83 10370 c.10335A>G c.(10333-10335)aaA>aaG p.K3445K NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3445 p.K3445K(4) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) ggaaggggaaaaaaagaaggg 0.413000 3 84 0 0 0.115264 0 0 ADAMTS8 11095 broad.mit.edu 37 11 130275958 130275958 + Missense_Mutation SNP C C T TCGA-CE-A3MD-01A-11D-A20C-08 TCGA-CE-A3MD-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 110e918d-199b-41f0-a655-4c3a1f6989c9 4cd738dc-c677-4206-a16e-f2977c086706 g.chr11:130275958C>T ENST00000257359.6 - 9 2871 c.2165G>A c.(2164-2166)aGc>aAc p.S722N NM_007037.4 NP_008968.4 Q9UP79 ATS8_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 8 722 Spacer. negative regulation of cell proliferation|proteolysis proteinaceous extracellular matrix heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 10 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213) ACCCGGGTGGCTCCGCTGCTT 0.542000 92 132 0 0 0.870114 0 0 OR4N5 390437 broad.mit.edu 37 14 20612596 20612596 + Missense_Mutation SNP C C A TCGA-CE-A3MD-01A-11D-A20C-08 TCGA-CE-A3MD-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 110e918d-199b-41f0-a655-4c3a1f6989c9 4cd738dc-c677-4206-a16e-f2977c086706 g.chr14:20612596C>A ENST00000333629.1 + 1 702 c.702C>A c.(700-702)agC>agA p.S234R NM_001004724.1 NP_001004724.1 Q8IXE1 OR4N5_HUMAN olfactory receptor, family 4, subfamily N, member 5 234 S -> T (in dbSNP:rs10140908). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1) 29 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.84e-06) GBM - Glioblastoma multiforme(265;0.0143) AAGGAAAGAGCAAGGCTATTT 0.502000 60 164 3.77215e-22 4.50225e-22 0.870114 1 0 TSG101 7251 broad.mit.edu 37 11 18505466 18505466 + Missense_Mutation SNP T T C TCGA-CE-A3MD-01A-11D-A20C-08 TCGA-CE-A3MD-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 110e918d-199b-41f0-a655-4c3a1f6989c9 4cd738dc-c677-4206-a16e-f2977c086706 g.chr11:18505466T>C ENST00000536719.1 - 8 928 c.794A>G c.(793-795)aAg>aGg p.K265R TSG101_ENST00000357193.3_Missense_Mutation_p.K160R|TSG101_ENST00000251968.3_Missense_Mutation_p.K265R Q99816 TS101_HUMAN tumor susceptibility 101 265 cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane calcium-dependent protein binding|DNA binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 22 CTGGTGACCCTTTTTCAGGTC 0.438000 6 392 0 0 0.307466 0 0 C17orf97 400566 broad.mit.edu 37 17 263584 263584 + Missense_Mutation SNP C C T rs71369083 TCGA-CE-A3MD-01A-11D-A20C-08 TCGA-CE-A3MD-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 110e918d-199b-41f0-a655-4c3a1f6989c9 4cd738dc-c677-4206-a16e-f2977c086706 g.chr17:263584C>T ENST00000360127.6 + 2 966 c.950C>T c.(949-951)aCt>aTt p.T317I C17orf97_ENST00000571106.1_Intron|AC108004.3_ENST00000466740.2_RNA NM_001013672.4 NP_001013694.4 Q6ZQX7 CQ097_HUMAN chromosome 17 open reading frame 97 347 20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E. breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1) 14 GGTTTCCACACTGACCCCGAG 0.687000 4 84 0 0 0.150653 0 0 OR6K6 128371 broad.mit.edu 37 1 158725536 158725536 + Missense_Mutation SNP T T C TCGA-CE-A3MD-01A-11D-A20C-08 TCGA-CE-A3MD-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 110e918d-199b-41f0-a655-4c3a1f6989c9 4cd738dc-c677-4206-a16e-f2977c086706 g.chr1:158725536T>C ENST00000368144.2 + 1 1027 c.931T>C c.(931-933)Ttt>Ctt p.F311L NM_001005184.1 NP_001005184.1 Q8NGW6 OR6K6_HUMAN olfactory receptor, family 6, subfamily K, member 6 311 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_hematologic(112;0.0378) CCTTGCTCCCTTTTTCAACCC 0.438000 3 135 0 0 0.115264 0 0 ZNF737 100129842 broad.mit.edu 37 19 20728254 20728254 + Missense_Mutation SNP C C G TCGA-CE-A3MD-01A-11D-A20C-08 TCGA-CE-A3MD-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 110e918d-199b-41f0-a655-4c3a1f6989c9 4cd738dc-c677-4206-a16e-f2977c086706 g.chr19:20728254C>G ENST00000427401.4 - 4 849 c.755G>C c.(754-756)aGt>aCt p.S252T NM_001159293.1 NP_001152765.1 C9JHM3 C9JHM3_HUMAN zinc finger protein 737 252 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1) 13 TTTCTCTCCACTATGAATTAT 0.403000 3 50 0 0 0.115264 0 0 AC093642.5 0 broad.mit.edu 37 2 243061183 243061183 + RNA SNP C C T TCGA-CE-A3MD-01A-11D-A20C-08 TCGA-CE-A3MD-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 110e918d-199b-41f0-a655-4c3a1f6989c9 4cd738dc-c677-4206-a16e-f2977c086706 g.chr2:243061183C>T ENST00000456398.1 + 0 531 ATTCAAGATACCCGAAGGTTC 0.358000 4 69 0 0 0.150653 0 0 WASH3P 0 broad.mit.edu 37 15 102515299 102515299 + RNA SNP G G A TCGA-CE-A3MD-01A-11D-A20C-08 TCGA-CE-A3MD-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 110e918d-199b-41f0-a655-4c3a1f6989c9 4cd738dc-c677-4206-a16e-f2977c086706 g.chr15:102515299G>A ENST00000557932.1 + 0 1145 p.G374S(10) central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1) 25 TGGGGGCATCGGCAAGGCCAA 0.652000 5 33 0 0 0.307466 0 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-CE-A3MD-01A-11D-A20C-08 TCGA-CE-A3MD-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 110e918d-199b-41f0-a655-4c3a1f6989c9 4cd738dc-c677-4206-a16e-f2977c086706 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 46 0 0 0.184627 0 0 LTBP2 4053 broad.mit.edu 37 14 74975354 74975354 + Missense_Mutation SNP A A G TCGA-CE-A3MD-01A-11D-A20C-08 TCGA-CE-A3MD-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 110e918d-199b-41f0-a655-4c3a1f6989c9 4cd738dc-c677-4206-a16e-f2977c086706 g.chr14:74975354A>G ENST00000261978.4 - 24 3991 c.3605T>C c.(3604-3606)cTg>cCg p.L1202P LTBP2_ENST00000556690.1_Missense_Mutation_p.L1202P NM_000428.2 NP_000419.1 Q14767 LTBP2_HUMAN latent transforming growth factor beta binding protein 2 1202 Cys-rich.|EGF-like 12; calcium-binding (Potential). protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) AGGCGCGCACAGACAGAAGAA 0.627000 4 81 0 0 0.150653 0 0 TG 7038 broad.mit.edu 37 8 133920500 133920500 + Missense_Mutation SNP G G C TCGA-CE-A3MD-01A-11D-A20C-08 TCGA-CE-A3MD-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 110e918d-199b-41f0-a655-4c3a1f6989c9 4cd738dc-c677-4206-a16e-f2977c086706 g.chr8:133920500G>C ENST00000220616.4 + 18 3957 c.3917G>C c.(3916-3918)tGc>tCc p.C1306S TG_ENST00000377869.1_Missense_Mutation_p.C1306S NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 1306 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) GGCAAGATGTGCAGTGCTGAC 0.597000 47 72 0 0 0.870114 0 0 OR56B4 196335 broad.mit.edu 37 11 6129771 6129771 + Missense_Mutation SNP C C A TCGA-CE-A3MD-01A-11D-A20C-08 TCGA-CE-A3MD-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 110e918d-199b-41f0-a655-4c3a1f6989c9 4cd738dc-c677-4206-a16e-f2977c086706 g.chr11:6129771C>A ENST00000316529.3 + 1 858 c.763C>A c.(763-765)Ctc>Atc p.L255I RP11-290F24.3_ENST00000529961.1_RNA NM_001005181.1 NP_001005181.1 Q8NH76 O56B4_HUMAN olfactory receptor, family 56, subfamily B, member 4 255 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2) 21 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) CATCCTCATCCTCTTCCACAC 0.478000 4 83 0.000602214 0.00067521 0.184627 1 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22663086 22663086 + RNA SNP T T G rs1054157 by1000genomes TCGA-CE-A3MD-01A-11D-A20C-08 TCGA-CE-A3MD-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 110e918d-199b-41f0-a655-4c3a1f6989c9 4cd738dc-c677-4206-a16e-f2977c086706 g.chr22:22663086T>G ENST00000426066.1 + 0 525 NR_027293.1 AGCTGCCACATAAGTTGTCCT 0.299000 3 46 0 0 0.115264 0 0 ZNF799 90576 broad.mit.edu 37 19 12501446 12501446 + Missense_Mutation SNP T T C TCGA-CE-A3MD-01A-11D-A20C-08 TCGA-CE-A3MD-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 110e918d-199b-41f0-a655-4c3a1f6989c9 4cd738dc-c677-4206-a16e-f2977c086706 g.chr19:12501446T>C ENST00000419318.1 - 4 2419 c.1670A>G c.(1669-1671)gAa>gGa p.E557G ZNF799_ENST00000430385.3_Missense_Mutation_p.E589G|CTD-3105H18.14_ENST00000435033.1_Intron Q96GE5 ZN799_HUMAN zinc finger protein 799 589 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2) 19 TTCCTTACATTCATACGGGTT 0.413000 4 87 0 0 0.150653 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22663087 22663087 + RNA SNP A A G rs1054158 TCGA-CE-A3MD-01A-11D-A20C-08 TCGA-CE-A3MD-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 110e918d-199b-41f0-a655-4c3a1f6989c9 4cd738dc-c677-4206-a16e-f2977c086706 g.chr22:22663087A>G ENST00000426066.1 + 0 526 NR_027293.1 GCTGCCACATAAGTTGTCCTT 0.303000 3 46 0 0 0.115264 0 0 MACF1 23499 broad.mit.edu 37 1 39847746 39847746 + Silent SNP G G A TCGA-CE-A3MD-01A-11D-A20C-08 TCGA-CE-A3MD-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 110e918d-199b-41f0-a655-4c3a1f6989c9 4cd738dc-c677-4206-a16e-f2977c086706 g.chr1:39847746G>A ENST00000564288.1 + 56 14547 c.13770G>A c.(13768-13770)gaG>gaA p.E4590E MACF1_ENST00000361689.2_Silent_p.E2528E|MACF1_ENST00000539005.1_Silent_p.E2507E|MACF1_ENST00000567887.1_Silent_p.E4627E|MACF1_ENST00000372915.3_Silent_p.E4595E|MACF1_ENST00000289893.4_Silent_p.E3030E|MACF1_ENST00000317713.7_Silent_p.E2528E|MACF1_ENST00000545844.1_Silent_p.E2528E Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 4595 R -> Q (in Ref. 1; BAA83821). cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) GGCTGATGGAGAAAGAACTGA 0.532000 3 64 0 0 0.115264 0 0 NBPF10 100132406 broad.mit.edu 37 1 145360640 145360640 + Missense_Mutation SNP C C G TCGA-CE-A3MD-01A-11D-A20C-08 TCGA-CE-A3MD-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 110e918d-199b-41f0-a655-4c3a1f6989c9 4cd738dc-c677-4206-a16e-f2977c086706 g.chr1:145360640C>G ENST00000342960.5 + 74 9300 c.9265C>G c.(9265-9267)Ctt>Gtt p.L3089V NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3089 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) TTCAGGTTGTCTTGAACTGTG 0.493000 2 6 0 0 0.115264 0 0 ARSI 340075 broad.mit.edu 37 5 149676882 149676882 + Missense_Mutation SNP C C A TCGA-CE-A3MD-01A-11D-A20C-08 TCGA-CE-A3MD-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 110e918d-199b-41f0-a655-4c3a1f6989c9 4cd738dc-c677-4206-a16e-f2977c086706 g.chr5:149676882C>A ENST00000328668.7 - 2 2184 c.1605G>T c.(1603-1605)agG>agT p.R535S NM_001012301.2 NP_001012301.1 Q5FYB1 ARSI_HUMAN arylsulfatase family, member I 535 endoplasmic reticulum|extracellular region arylsulfatase activity|metal ion binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 23 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AGCTTCGAGCCCTCCCTTCCT 0.552000 109 161 5.99808e-64 8.2196e-64 0.870114 1 0 NAA40 79829 broad.mit.edu 37 11 63720256 63720256 + Missense_Mutation SNP C C T TCGA-CE-A3MD-01A-11D-A20C-08 TCGA-CE-A3MD-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 110e918d-199b-41f0-a655-4c3a1f6989c9 4cd738dc-c677-4206-a16e-f2977c086706 g.chr11:63720256C>T ENST00000377793.4 + 6 540 c.439C>T c.(439-441)Cgg>Tgg p.R147W NAA40_ENST00000539656.1_Intron|NAA40_ENST00000456907.2_Missense_Mutation_p.R107W|NAA40_ENST00000542163.1_Missense_Mutation_p.R126W NM_024771.2 NP_079047.2 Q86UY6 NAA40_HUMAN N(alpha)-acetyltransferase 40, NatD catalytic subunit 147 N-acetyltransferase. N-acetyltransferase activity NS(1)|endometrium(1)|lung(2)|prostate(1) 5 AAGCAAGGTGCGGCGGAAAGG 0.542000 4 118 0 0 0.217242 0 0 AC008103.5 0 broad.mit.edu 37 22 18846006 18846006 + RNA SNP A A G TCGA-CE-A3MD-01A-11D-A20C-08 TCGA-CE-A3MD-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 110e918d-199b-41f0-a655-4c3a1f6989c9 4cd738dc-c677-4206-a16e-f2977c086706 g.chr22:18846006A>G ENST00000412938.1 + 0 3364 GCGCAGGCCGACACTCACTGA 0.617000 4 137 0 0 0.248553 0 0 GOLGB1 2804 broad.mit.edu 37 3 121409980 121409980 + Missense_Mutation SNP G G A TCGA-CE-A3MD-01A-11D-A20C-08 TCGA-CE-A3MD-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 110e918d-199b-41f0-a655-4c3a1f6989c9 4cd738dc-c677-4206-a16e-f2977c086706 g.chr3:121409980G>A ENST00000393667.3 - 14 8341 c.8231C>T c.(8230-8232)tCt>tTt p.S2744F GOLGB1_ENST00000340645.5_Missense_Mutation_p.S2739F NM_001256486.1 NP_001243415.1 Q14789 GOGB1_HUMAN golgin B1 2739 Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13) 119 GBM - Glioblastoma multiforme(114;0.0989) GGAACTCATAGACCTTCCAAA 0.398000 6 176 0 0 0.278610 0 0 DNAH8 1769 broad.mit.edu 37 6 38775405 38775405 + Missense_Mutation SNP C C G TCGA-CE-A3MD-01A-11D-A20C-08 TCGA-CE-A3MD-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 110e918d-199b-41f0-a655-4c3a1f6989c9 4cd738dc-c677-4206-a16e-f2977c086706 g.chr6:38775405C>G ENST00000359357.3 + 22 2773 c.2519C>G c.(2518-2520)gCt>gGt p.A840G DNAH8_ENST00000441566.1_Missense_Mutation_p.A840G|DNAH8_ENST00000449981.2_Missense_Mutation_p.A1057G dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 GAGGTCTTTGCTTTTTTCTCT 0.343000 28 65 0 0 0.769981 0 0 TNNI3K 51086 broad.mit.edu 37 1 74957824 74957826 + In_Frame_Del DEL CTT CTT - TCGA-CE-A3MD-01A-11D-A20C-08 TCGA-CE-A3MD-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 110e918d-199b-41f0-a655-4c3a1f6989c9 4cd738dc-c677-4206-a16e-f2977c086706 g.chr1:74957824_74957826delCTT ENST00000370891.2 + 25 2544_2546 c.2528_2530delCTT c.(2527-2532)cct>c p.PS843del LRRC53_ENST00000294635.4_Intron|TNNI3K_ENST00000326637.3_In_Frame_Del_p.PS742del|FPGT-TNNI3K_ENST00000557284.1_In_Frame_Del_p.PS843del NM_001112808.2 NP_001106279.1 TNNI3 interacting kinase cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 76 TCTCTCTCACCTTCTTCTTCTTC 0.473 8 444 --- --- --- --- FOXP2 93986 broad.mit.edu 37 7 114270016 114270018 + In_Frame_Del DEL CAG CAG - TCGA-CE-A3MD-01A-11D-A20C-08 TCGA-CE-A3MD-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 110e918d-199b-41f0-a655-4c3a1f6989c9 4cd738dc-c677-4206-a16e-f2977c086706 g.chr7:114270016_114270018delCAG ENST00000393500.3 + 11 1148_1150 c.328_330delCAG c.(328-330)del p.Q116del FOXP2_ENST00000393494.2_In_Frame_Del_p.Q191del|FOXP2_ENST00000408937.3_In_Frame_Del_p.Q216del|FOXP2_ENST00000393498.2_In_Frame_Del_p.Q171del|FOXP2_ENST00000390668.3_In_Frame_Del_p.Q215del|FOXP2_ENST00000403559.4_In_Frame_Del_p.Q208del|FOXP2_ENST00000350908.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000378237.3_In_Frame_Del_p.Q191del|FOXP2_ENST00000393489.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000360232.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000393491.3_In_Frame_Del_p.Q99del O15409 FOXP2_HUMAN forkhead box P2 191 Gln-rich. camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding p.Q210Q(2) breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 gcagcagcaacagcagcagcagc 0.507 7 74 --- --- --- --- DLC1 10395 broad.mit.edu 37 8 12957611 12957613 + In_Frame_Del DEL GCT GCT - rs137989738 TCGA-CE-A3MD-01A-11D-A20C-08 TCGA-CE-A3MD-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 110e918d-199b-41f0-a655-4c3a1f6989c9 4cd738dc-c677-4206-a16e-f2977c086706 g.chr8:12957611_12957613delGCT ENST00000276297.4 - 9 2642_2644 c.2233_2235delAGC c.(2233-2235)del p.S745del DLC1_ENST00000358919.2_In_Frame_Del_p.S308del|DLC1_ENST00000512044.2_In_Frame_Del_p.S342del|DLC1_ENST00000520226.1_In_Frame_Del_p.S234del NM_182643.2 NP_872584.2 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 745 Poly-Ser. actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 110 TCTCCGACTGGCTGCTGCTGCTG 0.621 8 106 --- --- --- --- KCNB2 9312 broad.mit.edu 37 8 73480396 73480397 + Frame_Shift_Ins INS - - A TCGA-CE-A3MD-01A-11D-A20C-08 TCGA-CE-A3MD-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 110e918d-199b-41f0-a655-4c3a1f6989c9 4cd738dc-c677-4206-a16e-f2977c086706 g.chr8:73480396_73480397insA ENST00000523207.1 + 2 1015_1016 c.427_428insA c.(427-429)aaafs p.K143fs NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 143 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding p.Q143K(1)|p.E146fs*3(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) CAGATATCATCAAAAAAAAGAA 0.446 7 207 --- --- --- --- CCDC26 0 broad.mit.edu 37 8 130495364 130495366 + RNA DEL GAA GAA - TCGA-CE-A3MD-01A-11D-A20C-08 TCGA-CE-A3MD-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 110e918d-199b-41f0-a655-4c3a1f6989c9 4cd738dc-c677-4206-a16e-f2977c086706 g.chr8:130495364_130495366delGAA ENST00000446592.3 - 0 312 agaggaagaggaagaagaagaag 0.537 2 4 --- --- --- --- PTENP1 0 broad.mit.edu 37 9 33675364 33675365 + RNA INS - - A TCGA-CE-A3MD-01A-11D-A20C-08 TCGA-CE-A3MD-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 110e918d-199b-41f0-a655-4c3a1f6989c9 4cd738dc-c677-4206-a16e-f2977c086706 g.chr9:33675364_33675365insA ENST00000532280.1 - 0 2132_2133 NR_023917.1 CTATTGCCATTAAAAAAAAAGG 0.322 3 4 --- --- --- --- CEL 1056 broad.mit.edu 37 9 135946921 135946921 + Frame_Shift_Del DEL C C - rs490954 TCGA-CE-A3MD-01A-11D-A20C-08 TCGA-CE-A3MD-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 110e918d-199b-41f0-a655-4c3a1f6989c9 4cd738dc-c677-4206-a16e-f2977c086706 g.chr9:135946921delC ENST00000372080.4 + 11 2057 c.2041delC c.(2041-2043)ccfs p.P683fs CEL_ENST00000351304.7_Frame_Shift_Del_p.P614fs NM_001807.3 NP_001798.2 P19835 CEL_HUMAN carboxyl ester lipase 680 17 X 11 AA tandem repeats, glycodomain, O-linked (mucin type). cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification cytosol|extracellular space acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1) 20 OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196) tgacgccgggcccccccccgt 0.841 2 4 --- --- --- --- EBLN1 340900 broad.mit.edu 37 10 22498484 22498485 + In_Frame_Ins INS - - AGA rs145490621 by1000genomes TCGA-CE-A3MD-01A-11D-A20C-08 TCGA-CE-A3MD-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 110e918d-199b-41f0-a655-4c3a1f6989c9 4cd738dc-c677-4206-a16e-f2977c086706 g.chr10:22498484_22498485insAGA ENST00000422359.2 - 1 465_466 c.428_429insTCT c.(427-429)cat>cTCTat p.143_143H>LY NM_001199938.1 NP_001186867.1 endogenous Bornavirus-like nucleoprotein 1 CAATGCCTATCAGATCACAGCA 0.455 4 2 --- --- --- --- RP11-167N24.4 0 broad.mit.edu 37 12 95794449 95794450 + RNA DEL CT CT - TCGA-CE-A3MD-01A-11D-A20C-08 TCGA-CE-A3MD-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 110e918d-199b-41f0-a655-4c3a1f6989c9 4cd738dc-c677-4206-a16e-f2977c086706 g.chr12:95794449_95794450delCT ENST00000548194.1 - 0 150 TGCCTTCTCCCTCTCTCTCTCT 0.505 3 6 --- --- --- --- B3GALTL 145173 broad.mit.edu 37 13 31803392 31803392 + Frame_Shift_Del DEL A A - rs141154947 TCGA-CE-A3MD-01A-11D-A20C-08 TCGA-CE-A3MD-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 110e918d-199b-41f0-a655-4c3a1f6989c9 4cd738dc-c677-4206-a16e-f2977c086706 g.chr13:31803392delA ENST00000343307.4 + 4 380 c.231delA c.(229-231)ttfs p.L77fs NM_194318.3 NP_919299.3 Q6Y288 B3GLT_HUMAN beta 1,3-galactosyltransferase-like 77 fucose metabolic process endoplasmic reticulum membrane|integral to membrane transferase activity, transferring glycosyl groups breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 Lung SC(185;0.0257) all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184) CAGAGCAGTTAAAAAAAAGCA 0.373 7 114 --- --- --- --- RP11-519G16.3 0 broad.mit.edu 37 15 45755478 45755478 + RNA DEL C C - TCGA-CE-A3MD-01A-11D-A20C-08 TCGA-CE-A3MD-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 110e918d-199b-41f0-a655-4c3a1f6989c9 4cd738dc-c677-4206-a16e-f2977c086706 g.chr15:45755478delC ENST00000560077.1 + 0 41 RP11-519G16.3_ENST00000558536.1_RNA|RP11-519G16.3_ENST00000560647.1_RNA atcaccaccaccaccaccacc 0.567 2 4 --- --- --- --- REXO1 57455 broad.mit.edu 37 19 1827020 1827021 + In_Frame_Ins INS - - GGA rs3052937 by1000genomes TCGA-CE-A3MD-01A-11D-A20C-08 TCGA-CE-A3MD-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 110e918d-199b-41f0-a655-4c3a1f6989c9 4cd738dc-c677-4206-a16e-f2977c086706 g.chr19:1827020_1827021insGGA ENST00000170168.4 - 2 1861_1862 c.1767_1768insTCC c.(1765-1770)tccctc>tcTCCcctc p.589_590SL>SPL NM_020695.3 NP_065746.3 Q8N1G1 REXO1_HUMAN REX1, RNA exonuclease 1 homolog (S. cerevisiae) 589 Ser-rich. nucleus exonuclease activity|nucleic acid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 16 Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCGCTggaggtggaggaggagg 0.703 5 9 --- --- --- --- GAGE2D 729408 broad.mit.edu 37 X 49208295 49208296 + In_Frame_Ins INS - - TAT TCGA-CE-A3MD-01A-11D-A20C-08 TCGA-CE-A3MD-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 110e918d-199b-41f0-a655-4c3a1f6989c9 4cd738dc-c677-4206-a16e-f2977c086706 g.chrX:49208295_49208296insTAT ENST00000404720.2 + 2 96_97 c.24_25insTAT c.(22-27)acatcg>acTATatcg p.8_9TS>TIS NM_001098407.1|NM_012196.1 NP_001091877.1|NP_036328.1 G antigen 2D GAAGATCGACCTATCGGCCTAG 0.465 2 4 --- --- --- ---