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 CPNE6 9362 broad.mit.edu 37 14 24546221 24546221 + Splice_Site SNP G G A TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr14:24546221G>A ENST00000397016.2 + 15 1610 c.1299G>A c.(1297-1299)acG>acA p.T433T CPNE6_ENST00000537691.1_Splice_Site_p.T488T|CPNE6_ENST00000216775.2_Splice_Site_p.T433T NM_001280558.1 NP_001267487.1 O95741 CPNE6_HUMAN copine VI (neuronal) 433 VWFA. lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport calcium ion binding|transporter activity endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 22 GBM - Glioblastoma multiforme(265;0.0184) GCCAAGCCACGGTAGGAAGAC 0.637000 5 12 0 0 1 0 0 MYO1D 4642 broad.mit.edu 37 17 30986217 30986217 + Missense_Mutation SNP C C T TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr17:30986217C>T ENST00000318217.5 - 17 2565 c.2261G>A c.(2260-2262)cGa>cAa p.R754Q MYO1D_ENST00000394649.4_Missense_Mutation_p.R666Q|MYO1D_ENST00000579584.1_Missense_Mutation_p.R754Q|RP11-220C2.1_ENST00000582272.1_RNA NM_015194.1 NP_056009.1 O94832 MYO1D_HUMAN myosin ID 754 myosin complex actin binding|ATP binding|calmodulin binding breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 BRCA - Breast invasive adenocarcinoma(9;0.0362) CCCGTAGTCTCGCATGGTCTT 0.532000 OREG0024311 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 29 94 0 0 1 0 0 LRRC7 57554 broad.mit.edu 37 1 70504189 70504189 + Silent SNP C C T TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr1:70504189C>T ENST00000310961.5 + 22 3001 c.2583C>T c.(2581-2583)acC>acT p.T861T LRRC7_ENST00000415775.2_Silent_p.T140T|LRRC7_ENST00000035383.5_Silent_p.T856T Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 856 centrosome|focal adhesion|nucleolus protein binding breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 AAGACAGGACCGCTTTTCCTT 0.463000 13 154 0 0 1 0 0 LOC100289333 100289333 broad.mit.edu 37 19 12318282 12318282 + RNA SNP G G A TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr19:12318282G>A ENST00000426044.1 + 0 127 AGGTGATGACGACAACATTCC 0.453000 4 42 0 0 1 0 0 WBP2NL 164684 broad.mit.edu 37 22 42415340 42415340 + Missense_Mutation SNP G G A TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr22:42415340G>A ENST00000328823.9 + 2 119 c.88G>A c.(88-90)Gag>Aag p.E30K NM_152613.2 NP_689826.2 Q6ICG8 WBP2L_HUMAN WBP2 N-terminal like 30 egg activation|male pronucleus assembly|meiosis perinuclear theca WW domain binding breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1) 14 TCCGAATGTGGAGCTCTCCTT 0.413000 6 75 0 0 1 0 0 BMP4 652 broad.mit.edu 37 14 54417548 54417548 + Silent SNP G G A TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr14:54417548G>A ENST00000245451.4 - 4 822 c.429C>T c.(427-429)aaC>aaT p.N143N BMP4_ENST00000417573.1_Silent_p.N143N|BMP4_ENST00000559087.1_Silent_p.N143N|BMP4_ENST00000558984.1_Silent_p.N143N NM_001202.3 NP_001193.2 P12644 BMP4_HUMAN bone morphogenetic protein 4 143 activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of MAP kinase activity|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|SMAD protein signal transduction|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway extracellular space|proteinaceous extracellular matrix BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1) 19 TGCTGCTGAGGTTAAAGAGGA 0.527000 16 43 0 0 1 0 0 OR2T10 127069 broad.mit.edu 37 1 248756267 248756267 + Missense_Mutation SNP G G A TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr1:248756267G>A ENST00000330500.2 - 1 833 c.803C>T c.(802-804)cCt>cTt p.P268L NM_001004693.1 NP_001004693.1 Q8NGZ9 O2T10_HUMAN olfactory receptor, family 2, subfamily T, member 10 268 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1) 26 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) ATCTTTCTCAGGAGTTTGGTA 0.438000 10 53 0 0 1 0 0 ZNF615 284370 broad.mit.edu 37 19 52497324 52497324 + Silent SNP C C T TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr19:52497324C>T ENST00000602063.1 - 6 1354 c.1005G>A c.(1003-1005)caG>caA p.Q335Q ZNF615_ENST00000391795.3_Silent_p.Q340Q|ZNF615_ENST00000376716.5_Silent_p.Q335Q|ZNF615_ENST00000594083.1_Silent_p.Q346Q|ZNF615_ENST00000598071.1_Silent_p.Q346Q Q8N8J6 ZN615_HUMAN zinc finger protein 615 335 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2) 42 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019) TATGAGTTTTCTGATGTGTAG 0.423000 33 101 0 0 1 0 0 ATP7A 538 broad.mit.edu 37 X 77275742 77275742 + Splice_Site SNP G G C rs150976855 TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chrX:77275742G>C ENST00000341514.6 + 13 2783 c.2628G>C c.(2626-2628)ggG>ggC p.G876G ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Splice_Site_p.G798G NM_000052.5 NP_000043.4 Q04656 ATP7A_HUMAN ATPase, Cu++ transporting, alpha polypeptide 876 G -> E (in MNKD).|G -> R (in MNKD). ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1) 53 TCCATACAGGGGAGGCAATGC 0.393000 10 46 0 0 1 0 0 CRABP1 1381 broad.mit.edu 37 15 78640302 78640302 + Missense_Mutation SNP A A G TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr15:78640302A>G ENST00000299529.6 + 4 502 c.397A>G c.(397-399)Att>Gtt p.I133V NM_004378.2 NP_004369.1 P29762 RABP1_HUMAN cellular retinoic acid binding protein 1 133 Retinoic acid binding (By similarity). multicellular organismal development|signal transduction cytoplasm retinal binding|retinol binding|transporter activity breast(1)|lung(4)|skin(1) 6 Alitretinoin(DB00523)|Etretinate(DB00926) CTGCACCAGAATTTATGTCCG 0.493000 10 63 0 0 1 0 0 DGCR8 54487 broad.mit.edu 37 22 20073753 20073753 + Silent SNP G G A TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr22:20073753G>A ENST00000351989.3 + 2 696 c.267G>A c.(265-267)ccG>ccA p.P89P DGCR8_ENST00000407755.1_Silent_p.P89P|DGCR8_ENST00000383024.2_Silent_p.P89P NM_022720.6 NP_073557.3 Q8WYQ5 DGCR8_HUMAN DGCR8 microprocessor complex subunit 89 Necessary for interaction with NCL.|Necessary for nuclear localization and retention. primary miRNA processing cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm double-stranded RNA binding|metal ion binding|protein binding NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 22 Colorectal(54;0.0993) TCATAGACCCGAACTGTAGTG 0.567000 9 66 0 0 1 0 0 COG4 25839 broad.mit.edu 37 16 70516007 70516007 + Missense_Mutation SNP C C G TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr16:70516007C>G ENST00000323786.5 - 16 2013 c.1992G>C c.(1990-1992)atG>atC p.M664I NM_001195139.1|NM_015386.2 NP_001182068.1|NP_056201.2 Q9H9E3 COG4_HUMAN component of oligomeric golgi complex 4 660 D domain. Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane|Golgi transport complex protein binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2) 33 Ovarian(137;0.0694) TGAACTCTGCCATTTGCTGCT 0.532000 10 55 0 0 1 0 0 SUSD3 203328 broad.mit.edu 37 9 95841805 95841805 + Missense_Mutation SNP G G A TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr9:95841805G>A ENST00000375472.3 + 4 514 c.478G>A c.(478-480)Gcc>Acc p.A160T SUSD3_ENST00000375469.1_Missense_Mutation_p.A147T NM_145006.2 NP_659443.1 Q96L08 SUSD3_HUMAN sushi domain containing 3 160 integral to membrane NS(1)|autonomic_ganglia(1)|breast(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2) 13 GACGGTGCAGGCCGCATACCT 0.612000 13 32 0 0 1 0 0 PCDHA8 56140 broad.mit.edu 37 5 140222221 140222221 + Missense_Mutation SNP G G A TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr5:140222221G>A ENST00000531613.1 + 1 1315 c.1315G>A c.(1315-1317)Gcc>Acc p.A439T PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.A439T|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron NM_018911.2 NP_061734.1 NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTGGGCCACCGCCAGCTTGTC 0.667000 17 108 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9087678 9087678 + Silent SNP C C T TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr19:9087678C>T ENST00000397910.4 - 1 4340 c.4137G>A c.(4135-4137)ccG>ccA p.P1379P NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 1379 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CTTTTGTGGCCGGACTGGTGA 0.458000 6 86 0 0 1 0 0 CELSR3 1951 broad.mit.edu 37 3 48694483 48694483 + Silent SNP G G A TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr3:48694483G>A ENST00000544264.1 - 2 4327 c.4047C>T c.(4045-4047)tcC>tcT p.S1349S CELSR3_ENST00000164024.4_Silent_p.S1349S Q9NYQ7 CELR3_HUMAN cadherin, EGF LAG seven-pass G-type receptor 3 1349 homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 83 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) GCAGCTCCTCGGAGCTGAACC 0.682000 5 40 0 0 1 0 0 ITGA7 3679 broad.mit.edu 37 12 56086673 56086673 + Silent SNP G G A TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr12:56086673G>A ENST00000257880.7 - 22 3150 c.2931C>T c.(2929-2931)tcC>tcT p.S977S ITGA7_ENST00000257879.6_Silent_p.S933S|ITGA7_ENST00000394230.2_Silent_p.S937S|ITGA7_ENST00000452168.2_Silent_p.S840S|ITGA7_ENST00000553804.1_Silent_p.S937S|ITGA7_ENST00000555728.1_Silent_p.S977S|ITGA7_ENST00000347027.6_Silent_p.S927S|ITGA7_ENST00000394229.2_Silent_p.S933S Q13683 ITA7_HUMAN integrin, alpha 7 977 cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape integrin complex receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 CTGGCCACCAGGACATGCTGG 0.642000 4 24 0 0 1 0 0 MAP1A 4130 broad.mit.edu 37 15 43817292 43817292 + Missense_Mutation SNP G G C TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr15:43817292G>C ENST00000382031.1 + 5 4366 c.4335G>C c.(4333-4335)gaG>gaC p.E1445D MAP1A_ENST00000399453.1_Missense_Mutation_p.E1207D|MAP1A_ENST00000300231.5_Missense_Mutation_p.E1207D P78559 MAP1A_HUMAN microtubule-associated protein 1A 1207 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity p.E1207E(1) breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 66 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) CCAGCAAGGAGACCTCCCTGG 0.522000 13 84 0 0 1 0 0 CCR10 2826 broad.mit.edu 37 17 40831910 40831910 + Silent SNP C C A TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr17:40831910C>A ENST00000591765.1 - 2 1469 c.84G>T c.(82-84)gtG>gtT p.V28V CCR10_ENST00000332438.4_Silent_p.V250V P46092 CCR10_HUMAN chemokine (C-C motif) receptor 10 250 integral to plasma membrane lung(1)|ovary(1)|skin(1) 3 Breast(137;0.000153) BRCA - Breast invasive adenocarcinoma(366;0.14) CCACCAGAGCCACCACGACGC 0.731000 3 9 0.004672 0.00475396 1 1 0 LRRFIP1 9208 broad.mit.edu 37 2 238626428 238626428 + Silent SNP A A G TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr2:238626428A>G ENST00000308482.9 + 4 294 c.225A>G c.(223-225)aaA>aaG p.K75K LRRFIP1_ENST00000392000.4_Intron|LRRFIP1_ENST00000289175.6_Intron|LRRFIP1_ENST00000244815.5_Intron NM_001137550.1 NP_001131022.1 Q32MZ4 LRRF1_HUMAN leucine rich repeat (in FLII) interacting protein 1 51 negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|cytoskeleton|nucleus DNA binding|double-stranded RNA binding|protein binding NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1) 29 Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182) Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228) TGGATACAAAATGGGGTGACA 0.373000 24 98 0 0 1 0 0 DENND6A 201627 broad.mit.edu 37 3 57658153 57658153 + Nonsense_Mutation SNP G G A TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr3:57658153G>A ENST00000311128.5 - 2 320 c.250C>T c.(250-252)Cag>Tag p.Q84* NM_152678.2 NP_689891.1 DENN/MADD domain containing 6A TTGGAATGCTGAGGATAAATT 0.318000 7 57 0 0 1 0 0 EHBP1L1 254102 broad.mit.edu 37 11 65349830 65349830 + Nonsense_Mutation SNP G G T TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr11:65349830G>T ENST00000309295.4 + 9 1952 c.1687G>T c.(1687-1689)Gaa>Taa p.E563* NM_001099409.1 NP_001092879.1 Q8N3D4 EH1L1_HUMAN EH domain binding protein 1-like 1 563 Glu-rich. central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 23 CTGGGAGGCAGAAGCTGGGGG 0.612000 3 30 6.4e-05 6.55059e-05 1 1 0 PSD4 23550 broad.mit.edu 37 2 113940254 113940254 + Missense_Mutation SNP A A G TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr2:113940254A>G ENST00000441564.3 + 2 390 c.221A>G c.(220-222)cAc>cGc p.H74R PSD4_ENST00000465917.1_3'UTR|PSD4_ENST00000245796.6_Missense_Mutation_p.H74R Q8NDX1 PSD4_HUMAN pleckstrin and Sec7 domain containing 4 regulation of ARF protein signal transduction cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 GAGCTCACACACCTGGGGAGC 0.617000 5 41 0 0 1 0 0 LDHC 3948 broad.mit.edu 37 11 18460094 18460094 + Silent SNP G G C TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr11:18460094G>C ENST00000541669.1 + 6 723 c.612G>C c.(610-612)gtG>gtC p.V204V LDHC_ENST00000546146.1_Silent_p.V146V|LDHC_ENST00000544105.1_Silent_p.V204V|LDHC_ENST00000280704.4_Silent_p.V204V|LDHC_ENST00000537486.1_Intron|LDHC_ENST00000535809.1_Intron|LDHC_ENST00000536880.1_Silent_p.V190V P07864 LDHC_HUMAN lactate dehydrogenase C 204 glycolysis cytoplasm binding|L-lactate dehydrogenase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 NADH(DB00157) GGAGTGGGGTGAATGTTGCTG 0.373000 12 74 0 0 1 0 0 AK9 221264 broad.mit.edu 37 6 109867162 109867162 + Missense_Mutation SNP C C G TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr6:109867162C>G ENST00000424296.2 - 26 3209 c.3133G>C c.(3133-3135)Gat>Cat p.D1045H AK9_ENST00000355283.1_Missense_Mutation_p.D124H|AK9_ENST00000341338.6_Missense_Mutation_p.D124H NM_001145128.2 NP_001138600.2 adenylate kinase 9 TTCTCAGAATCTTCCTCAAAT 0.358000 8 88 0 0 1 0 0 TCEB2 6923 broad.mit.edu 37 16 2821480 2821480 + Missense_Mutation SNP C C A TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr16:2821480C>A ENST00000262306.7 - 5 516 c.479G>T c.(478-480)gGg>gTg p.G160V TCEB2_ENST00000409477.1_3'UTR|TCEB2_ENST00000409906.4_3'UTR NM_207013.2 NP_996896.1 Q15370 ELOB_HUMAN transcription elongation factor B (SIII), polypeptide 2 (18kDa, elongin B) 0 positive regulation of viral transcription|protein complex assembly|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction cytosol|nucleoplasm protein binding endometrium(2)|prostate(1) 3 TGATTACAGCCCCCAGCGTGG 0.507000 27 62 3.65163e-15 4.09925e-15 1 1 0 PTENP1 11191 broad.mit.edu 37 9 33676347 33676347 + RNA SNP G G C TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr9:33676347G>C ENST00000532280.1 - 0 1150 NR_023917.1 AAAAGGGTTTGATAAGTTCTA 0.398000 37 77 0 0 1 0 0 TPP2 7174 broad.mit.edu 37 13 103326727 103326727 + Missense_Mutation SNP G G A TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr13:103326727G>A ENST00000376052.3 + 28 3482 c.3466G>A c.(3466-3468)Gga>Aga p.G1156R TPP2_ENST00000376065.4_Missense_Mutation_p.G1143R|TPP2_ENST00000466153.1_3'UTR P29144 TPP2_HUMAN tripeptidyl peptidase II 1143 proteolysis cytoplasm|nucleus aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 52 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) GGCTCAAGACGGAGCCATTTC 0.473000 17 62 0 0 1 0 0 ATRNL1 26033 broad.mit.edu 37 10 117228809 117228809 + Silent SNP C C T TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr10:117228809C>T ENST00000355044.3 + 24 3750 c.3624C>T c.(3622-3624)gtC>gtT p.V1208V ATRNL1_ENST00000303745.7_Intron|ATRNL1_ENST00000423111.2_Silent_p.V259V NM_207303.2 NP_997186.1 Q5VV63 ATRN1_HUMAN attractin-like 1 1208 integral to membrane sugar binding NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) ATGTGTACGTCAGCAACTTTT 0.294000 9 67 0 0 1 0 0 BMS1P20 96610 broad.mit.edu 37 22 22664141 22664141 + RNA SNP G G A TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr22:22664141G>A ENST00000426066.1 + 0 664 NR_027293.1 AAATTTGAAGGTGCTGTGATT 0.448000 5 82 0 0 1 0 0 STRAP 11171 broad.mit.edu 37 12 16052918 16052918 + Missense_Mutation SNP G G A TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr12:16052918G>A ENST00000419869.2 + 8 1169 c.856G>A c.(856-858)Gat>Aat p.D286N STRAP_ENST00000538352.1_Missense_Mutation_p.D192N|STRAP_ENST00000025399.6_Missense_Mutation_p.D299N NM_007178.3 NP_009109.3 Q9Y3F4 STRAP_HUMAN serine/threonine kinase receptor associated protein 286 mRNA processing|RNA splicing cell junction|mitochondrion|spliceosomal complex identical protein binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|skin(1) 15 Hepatocellular(102;0.121) TGGTTCAGAAGATGGAACATT 0.388000 18 82 0 0 1 0 0 HBS1L 10767 broad.mit.edu 37 6 135287557 135287557 + Missense_Mutation SNP T T C rs1139174 TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr6:135287557T>C ENST00000367837.5 - 17 2159 c.1953A>G c.(1951-1953)atA>atG p.I651M HBS1L_ENST00000527578.1_Missense_Mutation_p.I487M|HBS1L_ENST00000367824.4_Missense_Mutation_p.I487M|HBS1L_ENST00000367826.2_Missense_Mutation_p.I609M|HBS1L_ENST00000415177.2_Missense_Mutation_p.I586M|HBS1L_ENST00000445176.2_Missense_Mutation_p.I375M NM_001145158.1|NM_006620.3 NP_001138630.1|NP_006611.1 Q9Y450 HBS1L_HUMAN HBS1-like (S. cerevisiae) 651 signal transduction GTP binding|GTPase activity|translation elongation factor activity NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 20 Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702) GCTCAAGAGCTATTGGTCTTT 0.368000 27 85 0 0 1 0 0 CYP20A1 57404 broad.mit.edu 37 2 204144831 204144831 + Missense_Mutation SNP C C A TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr2:204144831C>A ENST00000356079.4 + 8 968 c.845C>A c.(844-846)gCa>gAa p.A282E CYP20A1_ENST00000461371.1_3'UTR|CYP20A1_ENST00000429815.2_Missense_Mutation_p.A290E NM_177538.2 NP_803882.1 Q6UW02 CP20A_HUMAN cytochrome P450, family 20, subfamily A, polypeptide 1 282 integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1) 11 ATAATAACTGCAAAATGTAAG 0.363000 8 20 5.68852e-11 6.26458e-11 1 1 0 LRFN1 57622 broad.mit.edu 37 19 39805227 39805227 + Silent SNP G G A TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr19:39805227G>A ENST00000248668.4 - 1 749 c.750C>T c.(748-750)ggC>ggT p.G250G NM_020862.1 NP_065913.1 Q9P244 LRFN1_HUMAN leucine rich repeat and fibronectin type III domain containing 1 250 cell junction|integral to membrane|postsynaptic density|postsynaptic membrane central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 18 all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512) Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335) GGGGGTTGCCGCCGAAGCTGA 0.697000 3 10 0 0 1 0 0 INPP4B 8821 broad.mit.edu 37 4 143044482 143044482 + Silent SNP C C A TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr4:143044482C>A ENST00000513000.1 - 21 2413 c.1980G>T c.(1978-1980)ggG>ggT p.G660G INPP4B_ENST00000508116.1_Silent_p.G660G|INPP4B_ENST00000509777.1_Silent_p.G660G|INPP4B_ENST00000262992.4_Silent_p.G660G|INPP4B_ENST00000308502.4_Silent_p.G660G NM_003866.2 NP_003857.2 O15327 INP4B_HUMAN inositol polyphosphate-4-phosphatase, type II, 105kDa 660 signal transduction phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 all_hematologic(180;0.158) GTACTATCAACCCCACTGTGT 0.363000 8 85 3.09899e-07 3.26802e-07 1 1 0 DGKG 1608 broad.mit.edu 37 3 186006620 186006620 + Silent SNP C C T TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr3:186006620C>T ENST00000265022.3 - 6 962 c.423G>A c.(421-423)gcG>gcA p.A141A DGKG_ENST00000344484.4_Silent_p.A141A|DGKG_ENST00000544847.1_Silent_p.A141A|DGKG_ENST00000382164.4_Silent_p.A141A NM_001080744.1|NM_001080745.1|NM_001346.2 NP_001074213.1|NP_001074214.1|NP_001337.2 P49619 DGKG_HUMAN diacylglycerol kinase, gamma 90kDa 141 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 42 all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) GBM - Glioblastoma multiforme(93;0.0657) Phosphatidylserine(DB00144) CCAGGGGGGTCGCAGCCACTT 0.512000 47 180 0 0 1 0 0 RFX5 5993 broad.mit.edu 37 1 151315450 151315450 + Missense_Mutation SNP G G T TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr1:151315450G>T ENST00000290524.4 - 11 1241 c.1063C>A c.(1063-1065)Ctt>Att p.L355I RFX5_ENST00000452513.2_Missense_Mutation_p.L315I|RFX5_ENST00000452671.2_Missense_Mutation_p.L355I|RFX5_ENST00000368870.2_Missense_Mutation_p.L355I NM_000449.3|NM_001025603.1 NP_000440.1|NP_001020774.1 P48382 RFX5_HUMAN regulatory factor X, 5 (influences HLA class II expression) 355 nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 20 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) CCTGAAGAAAGCCTGGGGGCC 0.587000 13 60 3.03607e-14 3.38639e-14 1 1 0 RLTPR 146206 broad.mit.edu 37 16 67679643 67679643 + Missense_Mutation SNP G G C TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr16:67679643G>C ENST00000334583.6 + 3 477 c.149G>C c.(148-150)aGa>aCa p.R50T RLTPR_ENST00000545661.1_Missense_Mutation_p.R50T NM_001013838.1 NP_001013860.1 Q6F5E8 LR16C_HUMAN RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing 50 p.R50K(1)|p.R90K(1) breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2) 18 Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232) CTACGATGGAGAGCCTACCTG 0.667000 10 77 0 0 1 0 0 ASB4 51666 broad.mit.edu 37 7 95125268 95125268 + Missense_Mutation SNP G G A rs141186023 TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr7:95125268G>A ENST00000325885.5 + 2 457 c.386G>A c.(385-387)cGt>cAt p.R129H ASB4_ENST00000257621.4_3'UTR|ASB4_ENST00000428113.1_Missense_Mutation_p.R129H NM_016116.2 NP_057200.1 Q9Y574 ASB4_HUMAN ankyrin repeat and SOCS box containing 4 129 intracellular signal transduction central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2) 20 all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246) STAD - Stomach adenocarcinoma(171;0.0151) CTCTGTGATCGTGGGGCAAAG 0.458000 14 64 0 0 1 0 0 GPR89A 653519 broad.mit.edu 37 1 145771648 145771648 + Missense_Mutation SNP C C T TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr1:145771648C>T ENST00000313835.9 - 11 1135 c.992G>A c.(991-993)gGa>gAa p.G331E GPR89A_ENST00000478703.1_5'UTR|GPR89A_ENST00000462900.2_Missense_Mutation_p.G306E|GPR89A_ENST00000534502.1_Missense_Mutation_p.G306E|GPR89A_ENST00000454423.3_Missense_Mutation_p.G211E B7ZAQ6 GPHRA_HUMAN G protein-coupled receptor 89A 331 intracellular pH reduction|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein transport Golgi cisterna membrane|Golgi-associated vesicle membrane|integral to membrane signal transducer activity|voltage-gated anion channel activity breast(1)|large_intestine(3)|lung(1)|skin(1) 6 all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786) KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229) AAATTGGATTCCCAGATAATT 0.343000 9 105 0 0 1 0 0 DEPDC5 9681 broad.mit.edu 37 22 32242867 32242867 + Silent SNP G G A TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr22:32242867G>A ENST00000400246.1 + 31 3211 c.3069G>A c.(3067-3069)acG>acA p.T1023T DEPDC5_ENST00000382105.2_Silent_p.T945T|DEPDC5_ENST00000266091.3_Silent_p.T1023T|DEPDC5_ENST00000400249.2_Silent_p.T1014T|DEPDC5_ENST00000382111.2_Silent_p.T1023T|DEPDC5_ENST00000382112.3_Silent_p.T1014T|DEPDC5_ENST00000400248.2_Silent_p.T1014T|DEPDC5_ENST00000535622.1_Silent_p.T945T O75140 DEPD5_HUMAN DEP domain containing 5 1014 intracellular signal transduction breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 63 CCATTTCCACGCATTCTCTGG 0.552000 16 53 0 0 1 0 0 RARB 5915 broad.mit.edu 37 3 25542729 25542729 + Missense_Mutation SNP G G C TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr3:25542729G>C ENST00000330688.4 + 3 784 c.363G>C c.(361-363)aaG>aaC p.K121N RARB_ENST00000462272.1_3'UTR|RARB_ENST00000437042.2_Missense_Mutation_p.K9N|RARB_ENST00000404969.1_Missense_Mutation_p.K128N|RARB_ENST00000458646.1_Missense_Mutation_p.K9N NM_000965.3 NP_000956.2 P10826 RARB_HUMAN retinoic acid receptor, beta 128 embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 28 Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799) ACCGAGATAAGAACTGTGTTA 0.393000 8 90 0 0 1 0 0 SLITRK6 84189 broad.mit.edu 37 13 86368575 86368575 + Missense_Mutation SNP T T C TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr13:86368575T>C ENST00000400286.2 - 2 2667 c.2069A>G c.(2068-2070)tAt>tGt p.Y690C NM_032229.2 NP_115605.2 Q9H5Y7 SLIK6_HUMAN SLIT and NTRK-like family, member 6 690 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_neural(89;0.117)|Medulloblastoma(90;0.163) GBM - Glioblastoma multiforme(99;0.0456) TGGACTTCTATAGACATGAAC 0.443000 50 255 0 0 1 0 0 VWF 7450 broad.mit.edu 37 12 6078422 6078422 + Nonsense_Mutation SNP G G A rs61751300 TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr12:6078422G>A ENST00000261405.5 - 45 7938 c.7684C>T c.(7684-7686)Cag>Tag p.Q2562* NM_000552.3 NP_000543 P04275 VWF_HUMAN von Willebrand factor 2562 blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) CAGCTCAGCTGAAAGCCCGAG 0.592000 7 23 0 0 1 0 0 ARFGEF2 10564 broad.mit.edu 37 20 47639592 47639592 + Missense_Mutation SNP G G T TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr20:47639592G>T ENST00000371917.4 + 35 4629 c.4629G>T c.(4627-4629)caG>caT p.Q1543H NM_006420.2 NP_006411.2 Q9Y6D5 BIG2_HUMAN ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) 1543 exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction cytosol|Golgi membrane ARF guanyl-nucleotide exchange factor activity breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 63 BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198) ACATAGATCAGAAACTGTTTG 0.403000 9 120 3.07112e-06 3.19985e-06 1 1 0 ADCY9 115 broad.mit.edu 37 16 4016470 4016470 + Missense_Mutation SNP G G A TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr16:4016470G>A ENST00000294016.3 - 11 3906 c.3368C>T c.(3367-3369)gCg>gTg p.A1123V NM_001116.3 NP_001107.2 O60503 ADCY9_HUMAN adenylate cyclase 9 1123 Guanylate cyclase 2. activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to plasma membrane adenylate cyclase activity|ATP binding|metal ion binding breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 CTGGGCCTGCGCGGTGTTCAG 0.602000 8 81 0 0 1 0 0 THOC5 8563 broad.mit.edu 37 22 29917075 29917075 + Missense_Mutation SNP G G C TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr22:29917075G>C ENST00000490103.1 - 13 1311 c.1189C>G c.(1189-1191)Cct>Gct p.P397A THOC5_ENST00000397872.1_Missense_Mutation_p.P397A|THOC5_ENST00000397873.2_Missense_Mutation_p.P397A|CTA-256D12.11_ENST00000411969.1_RNA|THOC5_ENST00000397871.1_Missense_Mutation_p.P397A NM_003678.4 NP_003669.4 Q13769 THOC5_HUMAN THO complex 5 397 intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex protein binding|RNA binding NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 ACTGAGTCAGGAGACAGCAAG 0.453000 23 114 0 0 1 0 0 CYP4Z1 199974 broad.mit.edu 37 1 47548040 47548040 + Nonsense_Mutation SNP G G A TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr1:47548040G>A ENST00000334194.3 + 4 402 c.399G>A c.(397-399)tgG>tgA p.W133* NM_178134.2 NP_835235.1 Q86W10 CP4Z1_HUMAN cytochrome P450, family 4, subfamily Z, polypeptide 1 133 endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1) 11 GTTCTAAATGGAAAAAGCACC 0.458000 7 41 0 0 1 0 0 GBP1 2633 broad.mit.edu 37 1 89523877 89523877 + Silent SNP G G C TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr1:89523877G>C ENST00000370473.4 - 6 891 c.672C>G c.(670-672)ctC>ctG p.L224L NM_002053.2 NP_002044.2 P32455 GBP1_HUMAN guanylate binding protein 1, interferon-inducible 224 interferon-gamma-mediated signaling pathway plasma membrane GTP binding|GTPase activity endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 30 Lung NSC(277;0.123) all cancers(265;0.0156)|Epithelial(280;0.0291) TCCGGATACAGAGTCTGGGCA 0.393000 22 395 0 0 1 0 0 MFRP 83552 broad.mit.edu 37 11 119216184 119216184 + Missense_Mutation SNP G G T TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr11:119216184G>T ENST00000555262.1 - 5 746 c.587C>A c.(586-588)tCt>tAt p.S196Y C1QTNF5_ENST00000445041.2_5'UTR|MFRP_ENST00000529147.1_5'UTR|MFRP_ENST00000449574.2_Missense_Mutation_p.S196Y|MFRP_ENST00000530681.1_Missense_Mutation_p.S196Y|MFRP_ENST00000360167.4_Missense_Mutation_p.S196Y NM_001278431.1 NP_001265360.1 membrane frizzled-related protein autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1) 18 Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;3.84e-05) AAAAAGGCAAGAGGCCACACT 0.582000 4 45 3.59834e-05 3.7048e-05 1 1 0 XIRP2 129446 broad.mit.edu 37 2 168101824 168101824 + Missense_Mutation SNP G G A TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr2:168101824G>A ENST00000409195.1 + 9 4011 c.3922G>A c.(3922-3924)Gat>Aat p.D1308N XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.D1308N|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.D1086N NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 1133 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 AATACAGGGTGATGTAAAAAG 0.368000 14 73 0 0 1 0 0 MAP4 4134 broad.mit.edu 37 3 47908773 47908773 + Missense_Mutation SNP G G A TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr3:47908773G>A ENST00000426837.2 - 17 6551 c.6464C>T c.(6463-6465)tCc>tTc p.S2155F MAP4_ENST00000264724.11_Missense_Mutation_p.S745F|MAP4_ENST00000420772.2_Missense_Mutation_p.S703F|MAP4_ENST00000395734.3_Missense_Mutation_p.S1010F|MAP4_ENST00000441748.2_Missense_Mutation_p.S124F|MAP4_ENST00000383737.4_Intron|MAP4_ENST00000360240.6_Missense_Mutation_p.S1010F P27816 MAP4_HUMAN microtubule-associated protein 4 1010 negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2) 32 BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736) ATTGTCCTTGGAACCACACTT 0.438000 13 92 0 0 1 0 0 SNAPC4 6621 broad.mit.edu 37 9 139273423 139273423 + Silent SNP G G A TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr9:139273423G>A ENST00000298532.2 - 21 3224 c.2856C>T c.(2854-2856)ctC>ctT p.L952L NM_003086.2 NP_003077.2 Q5SXM2 SNPC4_HUMAN small nuclear RNA activating complex, polypeptide 4, 190kDa 952 Pro-rich. snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter snRNA-activating protein complex DNA binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1) 33 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06) CAGGCCCAGAGAGCGGTACAT 0.657000 5 6 0 0 1 0 0 SVIL 6840 broad.mit.edu 37 10 29821479 29821479 + Missense_Mutation SNP T T A TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr10:29821479T>A ENST00000375398.2 - 10 2266 c.1817A>T c.(1816-1818)aAc>aTc p.N606I SVIL_ENST00000375400.3_Intron|SVIL_ENST00000355867.4_Missense_Mutation_p.N606I O95425 SVIL_HUMAN supervillin 606 cytoskeleton organization|skeletal muscle tissue development cell junction|costamere|invadopodium|nucleus|podosome actin filament binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 112 Breast(68;0.103) CCTGCAGGCGTTGGCAGATGC 0.577000 8 27 0 0 1 0 0 RP11-50E11.3 0 broad.mit.edu 37 10 52389979 52389979 + RNA SNP C C T TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr10:52389979C>T ENST00000443374.2 + 0 1168 ATAGTCTCCCCGTAGGCCTTC 0.393000 7 21 0 0 1 0 0 PTPRF 5792 broad.mit.edu 37 1 44086513 44086513 + Missense_Mutation SNP G G A TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr1:44086513G>A ENST00000359947.4 + 32 5709 c.5369G>A c.(5368-5370)gGg>gAg p.G1790E PTPRF_ENST00000438120.1_Missense_Mutation_p.G1781E|PTPRF_ENST00000422171.2_Missense_Mutation_p.G1149E|PTPRF_ENST00000372413.3_Missense_Mutation_p.G1781E|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372414.3_Missense_Mutation_p.G1790E NM_002840.3 NP_002831.2 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 1790 Tyrosine-protein phosphatase 2. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3) 72 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) TCCCAGGATGGGCAGTCAAGG 0.557000 12 36 0 0 1 0 0 AXL 558 broad.mit.edu 37 19 41745178 41745178 + Missense_Mutation SNP G G C TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr19:41745178G>C ENST00000301178.4 + 9 1434 c.1244G>C c.(1243-1245)gGa>gCa p.G415A AXL_ENST00000359092.3_Missense_Mutation_p.G415A|AXL_ENST00000593513.1_Missense_Mutation_p.G147A NM_001278599.1|NM_021913.3 NP_001265528.1|NP_068713 P30530 UFO_HUMAN AXL receptor tyrosine kinase 415 Fibronectin type-III 2. integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1) 48 GCTGGGGATGGACCCTGGAGC 0.617000 19 55 0 0 1 0 0 NCOR1 9611 broad.mit.edu 37 17 16089958 16089958 + Missense_Mutation SNP C C T TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr17:16089958C>T ENST00000268712.3 - 3 409 c.152G>A c.(151-153)aGt>aAt p.S51N NCOR1_ENST00000395848.1_Intron|NCOR1_ENST00000395851.1_Missense_Mutation_p.S51N NM_006311.3 NP_006302.2 O75376 NCOR1_HUMAN nuclear receptor corepressor 1 51 Interaction with ZBTB33 and HEXIM1. cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10) 107 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) TGATGCCTGACTCACTTCAAG 0.413000 9 61 0 0 1 0 0 USHBP1 83878 broad.mit.edu 37 19 17367354 17367354 + Silent SNP G G A rs141680124 byFrequency TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr19:17367354G>A ENST00000252597.3 - 9 1569 c.1396C>T c.(1396-1398)Ctg>Ttg p.L466L USHBP1_ENST00000431146.2_Silent_p.L402L NM_031941.3 NP_114147.2 Q8N6Y0 USBP1_HUMAN Usher syndrome 1C binding protein 1 466 PDZ domain binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 44 TGGGTCCCCAGAATGGCCTGC 0.612000 21 85 0 0 1 0 0 SLC27A6 28965 broad.mit.edu 37 5 128368806 128368806 + Missense_Mutation SNP T T A TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr5:128368806T>A ENST00000262462.4 + 10 2701 c.1691T>A c.(1690-1692)aTg>aAg p.M564K SLC27A6_ENST00000506176.1_Missense_Mutation_p.M564K|SLC27A6_ENST00000395266.1_Missense_Mutation_p.M564K Q9Y2P4 S27A6_HUMAN solute carrier family 27 (fatty acid transporter), member 6 564 long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process integral to membrane|sarcolemma fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1) 44 all_cancers(142;0.0483)|Prostate(80;0.055) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186) CAGGAAAAAATGGAAGCAACA 0.289000 6 22 0 0 1 0 0 KDM6B 23135 broad.mit.edu 37 17 7751845 7751845 + Missense_Mutation SNP C C G TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr17:7751845C>G ENST00000254846.5 + 11 2628 c.2239C>G c.(2239-2241)Cct>Gct p.P747A KDM6B_ENST00000448097.2_Missense_Mutation_p.P747A NM_001080424.1 NP_001073893.1 O15054 KDM6B_HUMAN lysine (K)-specific demethylase 6B 747 Pro-rich.|Thr-rich. inflammatory response nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5) 37 CACTACTGCTCCTGCTGTCGC 0.652000 6 48 0 0 1 0 0 DIAPH2 1730 broad.mit.edu 37 X 96213049 96213049 + Missense_Mutation SNP C C T TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chrX:96213049C>T ENST00000324765.8 + 16 2184 c.1837C>T c.(1837-1839)Cct>Tct p.P613S DIAPH2_ENST00000355827.4_Missense_Mutation_p.P613S|DIAPH2_ENST00000373049.4_Missense_Mutation_p.P613S|DIAPH2_ENST00000373061.3_Missense_Mutation_p.P613S|DIAPH2_ENST00000373054.4_Missense_Mutation_p.P609S O60879 DIAP2_HUMAN diaphanous-related formin 2 613 FH1.|Poly-Pro. cell differentiation|cytokinesis|multicellular organismal development|oogenesis cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus receptor binding|Rho GTPase binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 51 TGGAGGAGTTCCTCCTCCCCC 0.478000 16 25 0 0 1 0 0 MRPS26 64949 broad.mit.edu 37 20 3028475 3028475 + Missense_Mutation SNP G G C TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr20:3028475G>C ENST00000380325.3 + 4 702 c.578G>C c.(577-579)aGa>aCa p.R193T NM_030811.3 NP_110438.1 Q9BYN8 RT26_HUMAN mitochondrial ribosomal protein S26 193 DNA damage response, detection of DNA damage mitochondrial small ribosomal subunit kidney(1)|lung(1) 2 GCCATCACCAGAGAGGGGCTG 0.582000 4 49 0 0 1 0 0 KDM5C 8242 broad.mit.edu 37 X 53228048 53228048 + Missense_Mutation SNP G G T TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chrX:53228048G>T ENST00000452825.3 - 14 2597 c.2065C>A c.(2065-2067)Ctt>Att p.L689I KDM5C_ENST00000375401.3_Missense_Mutation_p.L756I|KDM5C_ENST00000404049.3_Missense_Mutation_p.L755I|KDM5C_ENST00000375379.3_Missense_Mutation_p.L756I|KDM5C_ENST00000375383.3_Missense_Mutation_p.L715I NM_001146702.1 NP_001140174.1 P41229 KDM5C_HUMAN lysine (K)-specific demethylase 5C 756 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding p.L756I(3)|p.L689I(2) autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2) 82 ATGGCAGGAAGCTCATCCAAG 0.587000 """N, F, S""" clear cell renal carcinoma 7 48 0.0293803 0.0293803 1 1 0 C12orf74 338809 broad.mit.edu 37 12 93100779 93100779 + Silent SNP C C T TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr12:93100779C>T ENST00000544406.2 + 2 638 c.372C>T c.(370-372)ccC>ccT p.P124P C12orf74_ENST00000397833.3_Silent_p.P124P Q32Q52 CL074_HUMAN chromosome 12 open reading frame 74 124 kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2) 10 CACTGGAGCCCCAAACCCGGC 0.557000 6 79 0 0 1 0 0 DSCAML1 57453 broad.mit.edu 37 11 117303215 117303215 + Missense_Mutation SNP C C T TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr11:117303215C>T ENST00000321322.6 - 30 5213 c.5212G>A c.(5212-5214)Gac>Aac p.D1738N DSCAML1_ENST00000527706.1_Missense_Mutation_p.D1468N NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 1678 axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) GTGGCCTTGTCATCTCCTGGG 0.463000 7 72 0 0 1 0 0 FRMPD3 84443 broad.mit.edu 37 X 106846360 106846360 + Silent SNP G G T TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chrX:106846360G>T ENST00000276185.4 + 16 5190 c.5190G>T c.(5188-5190)gtG>gtT p.V1730V Q5JV73 FRPD3_HUMAN FERM and PDZ domain containing 3 1730 cytoskeleton breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1) 28 AAGAGGTGGTGAGGAACTACA 0.582000 7 10 0.0293803 0.0293803 1 1 0 DHDH 27294 broad.mit.edu 37 19 49442919 49442919 + Missense_Mutation SNP C C G TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr19:49442919C>G ENST00000221403.2 + 4 620 c.580C>G c.(580-582)Cca>Gca p.P194A DHDH_ENST00000523250.1_Intron|DHDH_ENST00000522614.1_Missense_Mutation_p.P194A NM_014475.3 NP_055290.1 Q9UQ10 DHDH_HUMAN dihydrodiol dehydrogenase (dimeric) 194 carbohydrate metabolic process binding|D-xylose 1-dehydrogenase (NADP+) activity|electron carrier activity|NAD(P)+ transhydrogenase activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity central_nervous_system(1)|large_intestine(3)|lung(3)|ovary(1)|soft_tissue(1) 9 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000158)|all cancers(93;0.000258)|Epithelial(262;0.0173)|GBM - Glioblastoma multiforme(486;0.0179) AGGGCAGAAGCCAGAGAAGAT 0.562000 7 102 0 0 1 0 0 PRICKLE1 144165 broad.mit.edu 37 12 42853914 42853914 + Nonsense_Mutation SNP G G T rs137985321 byFrequency TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr12:42853914G>T ENST00000455697.1 - 8 2478 c.2193C>A c.(2191-2193)taC>taA p.Y731* PRICKLE1_ENST00000445766.2_Nonsense_Mutation_p.Y731*|PRICKLE1_ENST00000552240.1_Nonsense_Mutation_p.Y731*|RP11-328C8.4_ENST00000547824.1_RNA|PRICKLE1_ENST00000345127.3_Nonsense_Mutation_p.Y731*|PRICKLE1_ENST00000548696.1_Nonsense_Mutation_p.Y731* NM_001144882.1|NM_001144883.1 NP_001138354.1|NP_001138355.1 Q96MT3 PRIC1_HUMAN prickle homolog 1 (Drosophila) 731 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus cytosol|nuclear membrane zinc ion binding NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 47 all_cancers(12;4.25e-05)|Breast(8;0.176) GBM - Glioblastoma multiforme(48;0.2) CGTACTGTCCGTAGAGATCAG 0.493000 17 83 1.5739e-10 1.71161e-10 1 1 0 SEZ6 124925 broad.mit.edu 37 17 27308687 27308687 + Silent SNP C C T TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr17:27308687C>T ENST00000317338.12 - 2 854 c.426G>A c.(424-426)ccG>ccA p.P142P PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000360295.9_Silent_p.P142P|SEZ6_ENST00000442608.3_Silent_p.P142P|SEZ6_ENST00000335960.6_Silent_p.P142P Q53EL9 SEZ6_HUMAN seizure related 6 homolog (mouse) 142 Pro-rich. integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 29 Lung NSC(42;0.0137) Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111) ACTCTGACTCCGGACTCCAGG 0.647000 5 36 0 0 1 0 0 OXSM 54995 broad.mit.edu 37 3 25835785 25835785 + Missense_Mutation SNP G G A TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr3:25835785G>A ENST00000280701.3 + 3 1279 c.1180G>A c.(1180-1182)Gag>Aag p.E394K OXSM_ENST00000420173.2_Missense_Mutation_p.E311K NM_017897.2 NP_060367.1 Q9NWU1 OXSM_HUMAN 3-oxoacyl-ACP synthase, mitochondrial 394 acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process mitochondrion 3-oxoacyl-[acyl-carrier-protein] synthase activity breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 25 AGGGGCAGTCGAGGCAGCTTT 0.438000 16 88 0 0 1 0 0 EEA1 8411 broad.mit.edu 37 12 93244925 93244925 + Missense_Mutation SNP C C T TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr12:93244925C>T ENST00000322349.8 - 9 1024 c.760G>A c.(760-762)Gaa>Aaa p.E254K NM_003566.3 NP_003557 Q15075 EEA1_HUMAN early endosome antigen 1 254 early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction 1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 36 TTTTTGCATTCATCTTTGAGT 0.363000 8 48 0 0 1 0 0 MAGI2 9863 broad.mit.edu 37 7 79082591 79082591 + Missense_Mutation SNP G G A TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr7:79082591G>A ENST00000354212.4 - 1 299 c.46C>T c.(46-48)Cat>Tat p.H16Y MAGI2-AS3_ENST00000446159.1_RNA|MAGI2-AS3_ENST00000429408.1_RNA|MAGI2_ENST00000419488.1_Missense_Mutation_p.H16Y|MAGI2-AS3_ENST00000426835.1_RNA|MAGI2_ENST00000522391.1_Missense_Mutation_p.H16Y NM_012301.3 NP_036433.2 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 2 16 cell junction|synapse|synaptosome phosphatase binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3) 84 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) ACACTCTCATGGACTTTGCTA 0.592000 24 124 0 0 1 0 0 STRN4 29888 broad.mit.edu 37 19 47236403 47236403 + Silent SNP G G A rs146403716 TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr19:47236403G>A ENST00000391910.3 - 5 1080 c.630C>T c.(628-630)aaC>aaT p.N210N STRN4_ENST00000539396.1_Silent_p.N91N|STRN4_ENST00000263280.6_Silent_p.N210N Q9NRL3 STRN4_HUMAN striatin, calmodulin binding protein 4 210 cytoplasm|membrane armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035) CCACTGCCCCGTTGAGCTCCA 0.662000 7 34 0 0 1 0 0 LAMA2 3908 broad.mit.edu 37 6 129475825 129475825 + Silent SNP A A G TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr6:129475825A>G ENST00000421865.2 + 8 1252 c.1203A>G c.(1201-1203)aaA>aaG p.K401K NM_000426.3|NM_001079823.1 NP_000417|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 401 Laminin EGF-like 2. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) TCAGACCCAAAGGGGTAAAGT 0.333000 5 50 0 0 1 0 0 OR2L3 391192 broad.mit.edu 37 1 248224518 248224518 + Missense_Mutation SNP G G A TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr1:248224518G>A ENST00000359959.3 + 1 535 c.535G>A c.(535-537)Gat>Aat p.D179N OR2L13_ENST00000366478.2_Intron NM_001004687.1 NP_001004687.1 Q8NG85 OR2L3_HUMAN olfactory receptor, family 2, subfamily L, member 3 179 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1) 41 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) TTTCTTCTGTGATGTCCCAGC 0.478000 30 135 0 0 1 0 0 SMYD5 10322 broad.mit.edu 37 2 73446021 73446021 + Silent SNP G G A TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr2:73446021G>A ENST00000389501.4 + 2 174 c.129G>A c.(127-129)cgG>cgA p.R43R SMYD5_ENST00000474652.1_3'UTR NM_006062.2 NP_006053.2 Q6GMV2 SMYD5_HUMAN SMYD family member 5 43 metal ion binding NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1) 13 AGCTCATCCGGAAGGGGGAGA 0.542000 10 42 0 0 1 0 0 OR10R2 343406 broad.mit.edu 37 1 158449927 158449927 + Nonsense_Mutation SNP C C G TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr1:158449927C>G ENST00000368152.1 + 1 260 c.260C>G c.(259-261)tCa>tGa p.S87* RP11-144L1.4_ENST00000426251.1_RNA|RP11-144L1.4_ENST00000419738.1_RNA NM_001004472.1 NP_001004472.1 Q8NGX6 O10R2_HUMAN olfactory receptor, family 10, subfamily R, member 2 87 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S87L(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 41 all_hematologic(112;0.0378) GGCATTCTCTCAACATCTGAG 0.433000 27 172 0 0 1 0 0 PAN3 255967 broad.mit.edu 37 13 28794473 28794473 + Missense_Mutation SNP C C T TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr13:28794473C>T ENST00000399613.1 + 5 421 c.358C>T c.(358-360)Cac>Tac p.H120Y PAN3_ENST00000380958.3_Missense_Mutation_p.H320Y Q58A45 PAN3_HUMAN PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) 320 Interaction with polyadenylate-binding protein. nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening centrosome|cytosol ATP binding|protein kinase activity endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262) Colorectal(13;0.000334) all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174) AGTTTTCTCTCACCCATCCAT 0.458000 33 147 0 0 1 0 0 NOX4 50507 broad.mit.edu 37 11 89133385 89133385 + Nonsense_Mutation SNP G G A TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr11:89133385G>A ENST00000535633.1 - 10 1247 c.937C>T c.(937-939)Cag>Tag p.Q313* NOX4_ENST00000424319.1_Nonsense_Mutation_p.Q313*|NOX4_ENST00000532825.1_Nonsense_Mutation_p.Q313*|NOX4_ENST00000542487.1_Nonsense_Mutation_p.Q313*|NOX4_ENST00000528341.1_Nonsense_Mutation_p.Q312*|NOX4_ENST00000343727.5_Nonsense_Mutation_p.Q313*|NOX4_ENST00000375979.3_Intron|NOX4_ENST00000534731.1_Nonsense_Mutation_p.Q337*|NOX4_ENST00000531342.1_Intron|NOX4_ENST00000527956.1_Nonsense_Mutation_p.Q313*|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000263317.4_Nonsense_Mutation_p.Q337*|NOX4_ENST00000413594.2_Nonsense_Mutation_p.Q358*|NOX4_ENST00000527626.1_Nonsense_Mutation_p.Q171* NM_001143836.1|NM_016931.3 NP_001137308.1|NP_058627.1 Q9NPH5 NOX4_HUMAN NADPH oxidase 4 337 FAD-binding FR-type.|Mediates interaction with TLR4. cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2) 44 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011) TGACTCACCTGACCAGGTCTT 0.373000 9 98 0 0 1 0 0 MAMDC4 158056 broad.mit.edu 37 9 139754441 139754441 + Missense_Mutation SNP G G C TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr9:139754441G>C ENST00000445819.1 + 28 3584 c.3534G>C c.(3532-3534)caG>caC p.Q1178H MAMDC4_ENST00000485732.1_3'UTR|MAMDC4_ENST00000317446.2_Missense_Mutation_p.Q1099H Q6UXC1 AEGP_HUMAN MAM domain containing 4 1178 protein transport integral to membrane breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 19 all_cancers(76;0.0763)|all_epithelial(76;0.198) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171) GCTGGCTGCAGAAGAAGGGGA 0.632000 5 14 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49445170 49445170 + Missense_Mutation SNP C C T TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr12:49445170C>T ENST00000301067.7 - 10 2295 c.2296G>A c.(2296-2298)Gag>Aag p.E766K NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D TGTGGCTCCTCAGCCTGCGGA 0.697000 5 39 0 0 1 0 0 ST6GAL2 84620 broad.mit.edu 37 2 107446656 107446656 + Missense_Mutation SNP A A C TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr2:107446656A>C ENST00000409382.3 - 5 1794 c.1184T>G c.(1183-1185)aTt>aGt p.I395S ST6GAL2_ENST00000361686.4_Missense_Mutation_p.I395S|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.I395S NM_001142351.1 NP_001135823.1 Q96JF0 SIAT2_HUMAN ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 395 growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 65 ACGATGCTGAATATATGGAGT 0.368000 20 86 0 0 1 0 0 TRHDE 29953 broad.mit.edu 37 12 73046848 73046848 + Missense_Mutation SNP G G A TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr12:73046848G>A ENST00000261180.4 + 17 2857 c.2761G>A c.(2761-2763)Gat>Aat p.D921N NM_013381.2 NP_037513.1 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 921 cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 79 AGATGCAATTGATGTCATAAT 0.353000 6 59 0 0 1 0 0 CASP9 842 broad.mit.edu 37 1 15831211 15831211 + Missense_Mutation SNP C C T TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr1:15831211C>T ENST00000546424.1 - 6 1007 c.763G>A c.(763-765)Gga>Aga p.G255R CASP9_ENST00000348549.5_Intron|CASP9_ENST00000333868.5_Missense_Mutation_p.G255R|CASP9_ENST00000375890.4_Missense_Mutation_p.G172R P55211 CASP9_HUMAN caspase 9, apoptosis-related cysteine peptidase 255 activation of caspase activity by cytochrome c|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling cytosol cysteine-type endopeptidase activity|enzyme activator activity|protein binding central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|stomach(1) 18 Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655) ACAGGGCATCCATCTGTGCCG 0.552000 15 63 0 0 1 0 0 ASXL1 171023 broad.mit.edu 37 20 31021672 31021672 + Silent SNP C C G TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr20:31021672C>G ENST00000375687.4 + 12 2095 c.1671C>G c.(1669-1671)acC>acG p.T557T ASXL1_ENST00000306058.5_Silent_p.T552T NM_015338.5 NP_056153 Q8IXJ9 ASXL1_HUMAN additional sex combs like 1 (Drosophila) 557 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent PR-DUB complex metal ion binding|protein binding NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 722 GTGTTCACACCGAAAAGCCAC 0.537000 """F, N, Mis""" """MDS, CMML""" 24 128 0 0 1 0 0 VWF 7450 broad.mit.edu 37 12 6078430 6078430 + Missense_Mutation SNP G G A TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr12:6078430G>A ENST00000261405.5 - 45 7930 c.7676C>T c.(7675-7677)tCg>tTg p.S2559L NM_000552.3 NP_000543 P04275 VWF_HUMAN von Willebrand factor 2559 blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding p.S2559L(1) NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) CTGAAAGCCCGAGGGGCAGAC 0.592000 9 25 0 0 1 0 0 SALL1 6299 broad.mit.edu 37 16 51174110 51174110 + Missense_Mutation SNP G G C TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr16:51174110G>C ENST00000440970.1 - 2 2163 c.1732C>G c.(1732-1734)Cct>Gct p.P578A SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.P675A NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 675 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.P675S(1) NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) CCCCCAAAAGGAAACTTGGCC 0.582000 11 80 0 0 1 0 0 GPX1 2876 broad.mit.edu 37 3 49394857 49394857 + Silent SNP G G T TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr3:49394857G>T ENST00000419783.1 - 2 897 c.576C>A c.(574-576)atC>atA p.I192I GPX1_ENST00000419349.1_3'UTR NM_000581.2 NP_000572.2 P07203 GPX1_HUMAN glutathione peroxidase 1 192 anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion|UV protection cytosol|mitochondrion endopeptidase inhibitor activity|glutathione peroxidase activity|SH3 domain binding breast(1)|large_intestine(2)|lung(1) 4 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) Glutathione(DB00143) GCAGGGCTTCGATGTCAGGCT 0.617000 7 45 2.7689e-08 2.974e-08 1 1 0 AKAP9 10142 broad.mit.edu 37 7 91625086 91625086 + Missense_Mutation SNP T T C TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr7:91625086T>C ENST00000359028.2 + 8 1163 c.938T>C c.(937-939)tTg>tCg p.L313S AKAP9_ENST00000394564.1_Missense_Mutation_p.L301S|AKAP9_ENST00000358100.2_Missense_Mutation_p.L313S|AKAP9_ENST00000356239.3_Missense_Mutation_p.L301S Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 313 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) ATTAGTTTCTTGCAAGAGAAA 0.318000 T BRAF papillary thyroid 8 27 0 0 1 0 0 TRPC4 7223 broad.mit.edu 37 13 38213252 38213252 + Missense_Mutation SNP G G T TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr13:38213252G>T ENST00000379705.3 - 10 2993 c.2136C>A c.(2134-2136)aaC>aaA p.N712K TRPC4_ENST00000355779.2_Missense_Mutation_p.N712K|TRPC4_ENST00000379679.1_Missense_Mutation_p.N539K|TRPC4_ENST00000379673.2_Missense_Mutation_p.N647K|TRPC4_ENST00000358477.2_Missense_Mutation_p.N712K|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000447043.1_Missense_Mutation_p.N712K|TRPC4_ENST00000338947.5_Missense_Mutation_p.N539K|TRPC4_ENST00000379681.3_Missense_Mutation_p.N717K Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, subfamily C, member 4 712 Binds to ITPR1, ITPR2 and ITPR3. axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 83 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) GCTTCACCAGGTTCCTCATAA 0.398000 18 174 2.94398e-08 3.14266e-08 1 1 0 CX3CL1 6376 broad.mit.edu 37 16 57416922 57416922 + Missense_Mutation SNP C C T TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr16:57416922C>T ENST00000565912.1 + 2 3764 c.1058C>T c.(1057-1059)tCa>tTa p.S353L CX3CL1_ENST00000006053.6_Missense_Mutation_p.S391L|CX3CL1_ENST00000563383.1_Missense_Mutation_p.S397L P78423 X3CL1_HUMAN chemokine (C-X3-C motif) ligand 1 391 cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response cell surface|extracellular space|integral to membrane|plasma membrane chemokine activity breast(1)|endometrium(1)|large_intestine(1)|lung(2) 5 GGTAGTAATTCATATGTCCTG 0.577000 11 84 0 0 1 0 0 LARP6 55323 broad.mit.edu 37 15 71125360 71125360 + Missense_Mutation SNP C C G TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr15:71125360C>G ENST00000299213.8 - 3 577 c.507G>C c.(505-507)agG>agC p.R169S NM_018357.2 NP_060827.2 Q9BRS8 LARP6_HUMAN La ribonucleoprotein domain family, member 6 169 HTH La-type RNA-binding. RNA processing Golgi apparatus|nucleus|ribonucleoprotein complex nucleotide binding|RNA binding breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 19 CGGGGGTGGTCCTCCTCACCT 0.547000 6 42 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179542881 179542881 + Missense_Mutation SNP G G A TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr2:179542881G>A ENST00000589042.1 - 145 34189 c.33965C>T c.(33964-33966)cCg>cTg p.P11322L TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.P11005L|TTN_ENST00000342992.6_Missense_Mutation_p.P10078L|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 11005 Glu-rich.|Pro-rich. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.P10078L(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CACTTTTTTCGGAACAGGTGT 0.358000 7 79 0 0 1 0 0 PTPRK 5796 broad.mit.edu 37 6 128302401 128302401 + Missense_Mutation SNP C C T TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr6:128302401C>T ENST00000368227.3 - 26 3988 c.3622G>A c.(3622-3624)Gaa>Aaa p.E1208K PTPRK_ENST00000368226.4_Missense_Mutation_p.E1191K|PTPRK_ENST00000368215.3_Missense_Mutation_p.E1190K|PTPRK_ENST00000368210.3_Missense_Mutation_p.E1209K|PTPRK_ENST00000368213.5_Missense_Mutation_p.E1197K|PTPRK_ENST00000368207.3_Missense_Mutation_p.E1223K|PTPRK_ENST00000532331.1_Missense_Mutation_p.E1213K Q15262 PTPRK_HUMAN protein tyrosine phosphatase, receptor type, K 1190 Tyrosine-protein phosphatase 2. cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity PTPRK/RSPO3(10) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24) CTGCAGTCTTCAGCTTGTAGT 0.428000 5 25 0 0 1 0 0 PSG9 5678 broad.mit.edu 37 19 43763021 43763021 + Silent SNP G G A TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr19:43763021G>A ENST00000418820.2 - 3 795 c.697C>T c.(697-699)Cta>Tta p.L233L PSG9_ENST00000593948.1_Intron|PSG9_ENST00000596730.1_Intron|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000443718.3_Silent_p.L233L|PSG9_ENST00000270077.3_Silent_p.L326L|PSG9_ENST00000244293.7_Intron Q00887 PSG9_HUMAN pregnancy specific beta-1-glycoprotein 9 233 Ig-like C2-type 1. female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Prostate(69;0.00682) AGGACATTTAGGATGACTGGG 0.507000 11 140 0 0 1 0 0 ADARB2 105 broad.mit.edu 37 10 1405298 1405298 + Silent SNP G G A TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr10:1405298G>A ENST00000381312.1 - 3 1327 c.1002C>T c.(1000-1002)gcC>gcT p.A334A NM_018702.3 NP_061172.1 Q9NS39 RED2_HUMAN adenosine deaminase, RNA-specific, B2 (non-functional) 334 DRBM 2. mRNA processing mitochondrion|nucleus adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1) 41 all_epithelial(10;0.059)|Colorectal(49;0.0815) all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165) CCTGCAGTGCGGCCTGCGCGG 0.746000 3 9 0 0 1 0 0 NYAP2 57624 broad.mit.edu 37 2 226447640 226447640 + Missense_Mutation SNP C C T TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr2:226447640C>T ENST00000272907.6 + 4 1920 c.1507C>T c.(1507-1509)Cgg>Tgg p.R503W NYAP2_ENST00000409269.2_Intron NM_020864.1 NP_065915.1 Q9P242 K1486_HUMAN neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 503 GGGTGGCTCCCGGTCCCGGAC 0.687000 6 24 0 0 1 0 0 LIG4 3981 broad.mit.edu 37 13 108860901 108860901 + Missense_Mutation SNP C C T TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr13:108860901C>T ENST00000356922.4 - 2 2988 c.2716G>A c.(2716-2718)Gaa>Aaa p.E906K LIG4_ENST00000405925.1_Missense_Mutation_p.E906K|LIG4_ENST00000442234.1_Missense_Mutation_p.E906K NM_002312.3|NM_206937.1 NP_002303.2|NP_996820.1 P49917 DNLI4_HUMAN ligase IV, DNA, ATP-dependent 906 BRCT 2. cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104) TACTGGTTTTCTTCTTGTAAT 0.333000 Non-homologous end-joining 11 25 0 0 1 0 0 NDUFS4 4724 broad.mit.edu 37 5 52856471 52856471 + Translation_Start_Site SNP C C A rs144843461 by1000genomes TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr5:52856471C>A ENST00000296684.5 + 0 7 NM_002495.2 NP_002486.1 O43181 NDUS4_HUMAN NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase) brain development|cAMP-mediated signaling|mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|positive regulation of fibroblast proliferation|reactive oxygen species metabolic process|regulation of protein phosphorylation|response to cAMP|transport mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(3) 10 Lung NSC(810;8.27e-05)|Breast(144;0.0848) NADH(DB00157) GTCCTTTCATCCTGGCGTTTG 0.507000 22 56 4.35082e-09 4.70212e-09 1 1 0 KMT2D 8085 broad.mit.edu 37 12 49444391 49444391 + Nonsense_Mutation SNP C C A TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr12:49444391C>A ENST00000301067.7 - 11 2979 c.2980G>T c.(2980-2982)Gag>Tag p.E994* NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D GGGACAGGCTCAGGGTCAGTG 0.622000 6 35 5.9392e-07 6.22543e-07 1 1 0 PPP6R1 22870 broad.mit.edu 37 19 55758399 55758399 + Missense_Mutation SNP G G A TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr19:55758399G>A ENST00000412770.2 - 2 639 c.73C>T c.(73-75)Ccc>Tcc p.P25S PPP6R1_ENST00000587283.1_Missense_Mutation_p.P25S NM_014931.3 NP_055746.3 Q9UPN7 PP6R1_HUMAN protein phosphatase 6, regulatory subunit 1 25 Interaction with PPP6C. regulation of phosphoprotein phosphatase activity cytoplasm protein phosphatase binding breast(1) 1 AGCAGCTCGGGCAGGCTCAGG 0.612000 7 101 0 0 1 0 0 PDE5A 8654 broad.mit.edu 37 4 120549736 120549736 + Missense_Mutation SNP C C T TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr4:120549736C>T ENST00000354960.3 - 1 410 c.91G>A c.(91-93)Gaa>Aaa p.E31K NM_001083.3 NP_001074.2 O76074 PDE5A_HUMAN phosphodiesterase 5A, cGMP-specific 31 platelet activation|signal transduction cytosol 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 27 Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862) AGCCATGCTTCGACCGAGTCC 0.597000 OREG0016307 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 77 0 0 1 0 0 KRT14 3861 broad.mit.edu 37 17 39740032 39740032 + Missense_Mutation SNP C C T TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr17:39740032C>T ENST00000167586.6 - 4 993 c.907G>A c.(907-909)Gag>Aag p.E303K NM_000526.4 NP_000517 P02533 K1C14_HUMAN keratin 14 303 Coil 2.|Rod. epidermis development|hemidesmosome assembly|intermediate filament bundle assembly cytosol|keratin filament|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1) 25 Breast(137;0.000307) AACCATTCCTCGGCATCCTTG 0.542000 28 249 0 0 1 0 0 RPS6 6194 broad.mit.edu 37 9 19376294 19376294 + Silent SNP T T C TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr9:19376294T>C ENST00000380394.4 - 6 805 c.747A>G c.(745-747)aaA>aaG p.K249K RPS6_ENST00000498815.1_5'UTR|RPS6_ENST00000315377.4_Silent_p.K218K|RPS6_ENST00000380384.1_Silent_p.K218K NM_001010.2 NP_001001.2 P62753 RS6_HUMAN ribosomal protein S6 249 endocrine pancreas development|glucose homeostasis|insulin receptor signaling pathway|positive regulation of apoptosis|rRNA processing|TOR signaling cascade|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit|nucleolus protein binding endometrium(3)|lung(2)|ovary(1)|urinary_tract(1) 7 Colorectal(97;3.46e-05)|Myeloproliferative disorder(762;0.0255) Lung(42;0.161)|LUSC - Lung squamous cell carcinoma(42;0.234) AAAAATCTTATTTCTGACTGG 0.383000 8 76 0 0 1 0 0 ZNF311 282890 broad.mit.edu 37 6 28967310 28967310 + Silent SNP G G A TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr6:28967310G>A ENST00000377179.3 - 5 776 c.264C>T c.(262-264)ctC>ctT p.L88L ZNF311_ENST00000483450.1_5'UTR NM_001010877.2 NP_001010877.2 Q5JNZ3 ZN311_HUMAN zinc finger protein 311 88 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2) 28 CATCCTTATAGAGATGCCTTT 0.398000 7 88 0 0 1 0 0 RNF182 221687 broad.mit.edu 37 6 13977507 13977507 + Missense_Mutation SNP G G C TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr6:13977507G>C ENST00000488300.1 + 3 680 c.157G>C c.(157-159)Gac>Cac p.D53H RNF182_ENST00000537388.1_Missense_Mutation_p.D53H|RNF182_ENST00000537663.1_Missense_Mutation_p.D53H|RNF182_ENST00000544682.1_Missense_Mutation_p.D53H NM_152737.3 NP_689950.1 Q8N6D2 RN182_HUMAN ring finger protein 182 53 cytoplasm|integral to membrane|intracellular membrane-bounded organelle protein binding|ubiquitin-protein ligase activity|zinc ion binding p.D53Y(1) cervix(1)|large_intestine(7)|liver(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 15 Breast(50;0.00405)|Ovarian(93;0.0964) all_hematologic(90;0.135) Epithelial(50;0.195) CAAGATCATAGACTTTGGGGA 0.463000 11 164 0 0 1 0 0 RCOR3 55758 broad.mit.edu 37 1 211433478 211433478 + Nonsense_Mutation SNP C C A rs145681038 byFrequency TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr1:211433478C>A ENST00000367005.4 + 1 162 c.21C>A c.(19-21)taC>taA p.Y7* RCOR3_ENST00000452621.2_Nonsense_Mutation_p.Y65*|RCOR3_ENST00000419091.2_Nonsense_Mutation_p.Y65*|RCOR3_ENST00000367006.4_Nonsense_Mutation_p.Y65* NM_018254.3 NP_060724.1 Q9P2K3 RCOR3_HUMAN REST corepressor 3 7 ELM2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171) GAGCCGAATACCAAGCTCGGA 0.403000 25 27 9.39395e-14 1.04111e-13 1 1 0 DAB2 1601 broad.mit.edu 37 5 39377092 39377092 + Silent SNP A A G TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr5:39377092A>G ENST00000320816.6 - 12 2264 c.1797T>C c.(1795-1797)ttT>ttC p.F599F DAB2_ENST00000339788.6_Silent_p.F381F|DAB2_ENST00000509337.1_Silent_p.F578F|DAB2_ENST00000545653.1_Silent_p.F578F NM_001343.3 NP_001334.2 P98082 DAB2_HUMAN Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila) 599 cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway clathrin coated vesicle membrane|coated pit protein C-terminus binding autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 47 all_lung(31;0.000197) Epithelial(62;0.137) CAGGAGCTGGAAAAATATTGC 0.572000 OREG0016586 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 151 0 0 1 0 0 CNTROB 116840 broad.mit.edu 37 17 7836462 7836462 + Missense_Mutation SNP C C T TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr17:7836462C>T ENST00000380262.3 + 1 990 c.65C>T c.(64-66)tCa>tTa p.S22L CNTROB_ENST00000565740.1_Missense_Mutation_p.S22L|CNTROB_ENST00000563694.1_Missense_Mutation_p.S22L|CNTROB_ENST00000380255.3_Missense_Mutation_p.S22L NM_001037144.5 NP_001032221.1 Q8N137 CNTRB_HUMAN centrobin, centrosomal BRCA2 interacting protein 22 centriole replication|centrosome separation|cytokinesis centriole protein domain specific binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9) 25 Prostate(122;0.173) AGTGATTCATCAGAACCCCCT 0.602000 14 145 0 0 1 0 0 NSD1 64324 broad.mit.edu 37 5 176665484 176665484 + Missense_Mutation SNP G G C TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr5:176665484G>C ENST00000439151.2 + 7 4213 c.4168G>C c.(4168-4170)Gag>Cag p.E1390Q NSD1_ENST00000347982.4_Missense_Mutation_p.E1121Q|NSD1_ENST00000361032.4_Missense_Mutation_p.E1287Q|NSD1_ENST00000354179.4_Missense_Mutation_p.E1121Q NM_022455.4 NP_071900.2 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 1390 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3) 96 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) CCTTGAGTCTGAGGAATTGCT 0.507000 T NUP98 AML Sotos Syndrome Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome HNSCC(47;0.14) 23 71 0 0 1 0 0 COL6A3 1293 broad.mit.edu 37 2 238296565 238296565 + Silent SNP G G A TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr2:238296565G>A ENST00000295550.4 - 4 1424 c.972C>T c.(970-972)ctC>ctT p.L324L COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000392003.2_Intron|COL6A3_ENST00000409809.1_Silent_p.L118L|COL6A3_ENST00000353578.4_Silent_p.L118L|COL6A3_ENST00000346358.4_Silent_p.L324L|COL6A3_ENST00000347401.3_Intron|COL6A3_ENST00000392004.3_Silent_p.L118L NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 324 Nonhelical region.|VWFA 2. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) AATCAAGGGCGAGGCCGATAT 0.617000 7 41 0 0 1 0 0 VIL1 7429 broad.mit.edu 37 2 219292748 219292748 + Silent SNP C C T TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr2:219292748C>T ENST00000248444.5 + 5 496 c.408C>T c.(406-408)gtC>gtT p.V136V VIL1_ENST00000440053.1_Silent_p.V136V|VIL1_ENST00000392114.2_Intron NM_007127.2 NP_009058.2 P09327 VILI_HUMAN villin 1 136 Core. actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Renal(207;0.0474) Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CCTATGACGTCCAGAGGCTGC 0.622000 19 146 0 0 1 0 0 ELOVL5 60481 broad.mit.edu 37 6 53160459 53160459 + Missense_Mutation SNP C C G TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr6:53160459C>G ENST00000542638.1 - 2 486 c.39G>C c.(37-39)aaG>aaC p.K13N ELOVL5_ENST00000541407.1_Missense_Mutation_p.K13N|ELOVL5_ENST00000370913.5_Missense_Mutation_p.K13N|ELOVL5_ENST00000304434.6_Missense_Mutation_p.K13N|ELOVL5_ENST00000486973.1_5'UTR|ELOVL5_ENST00000370918.4_Missense_Mutation_p.K13N Q9NYP7 ELOV5_HUMAN ELOVL fatty acid elongase 5 13 fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane fatty acid elongase activity|protein binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4) 7 Lung NSC(77;0.116) CTAGCAATGCCTTGAAATAGG 0.363000 3 11 0 0 1 0 0 TREML3P 340206 broad.mit.edu 37 6 41185458 41185458 + RNA SNP A A C rs9367097 by1000genomes TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr6:41185458A>C ENST00000564680.1 - 0 227 TGTAGATTTCACACCAGTAGG 0.448000 4 23 0 0 1 0 0 MRPL3 11222 broad.mit.edu 37 3 131190094 131190094 + Missense_Mutation SNP T T C TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr3:131190094T>C ENST00000264995.3 - 7 806 c.659A>G c.(658-660)aAa>aGa p.K220R MRPL3_ENST00000425847.2_Missense_Mutation_p.K247R NM_007208.3 NP_009139.1 P09001 RM03_HUMAN mitochondrial ribosomal protein L3 220 translation mitochondrial large ribosomal subunit RNA binding|structural constituent of ribosome endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1) 10 TCCCCATCTTTTCATGACACC 0.408000 9 83 0 0 1 0 0 CELSR2 1952 broad.mit.edu 37 1 109793320 109793320 + Missense_Mutation SNP G G C TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr1:109793320G>C ENST00000271332.3 + 1 680 c.619G>C c.(619-621)Gac>Cac p.D207H NM_001408.2 NP_001399.1 Q9HCU4 CELR2_HUMAN cadherin, EGF LAG seven-pass G-type receptor 2 207 Cadherin 1. dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2) 82 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) GAGGGCCATCGACCCGGACGA 0.617000 5 59 0 0 1 0 0 PRX 57716 broad.mit.edu 37 19 40902543 40902543 + Silent SNP C C T TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr19:40902543C>T ENST00000324001.7 - 7 1986 c.1716G>A c.(1714-1716)gtG>gtA p.V572V PRX_ENST00000291825.7_3'UTR NM_181882.2 NP_870998.2 Q9BXM0 PRAX_HUMAN periaxin 572 55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER]. axon ensheathment cytoplasm|nucleus|plasma membrane protein binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9) 47 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) TCGGCAGCTGCACCTCTGGAA 0.552000 13 225 0 0 1 0 0 EMP2 2013 broad.mit.edu 37 16 10631801 10631801 + Silent SNP G G A TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr16:10631801G>A ENST00000359543.3 - 4 509 c.300C>T c.(298-300)atC>atT p.I100I EMP2_ENST00000536829.1_Silent_p.I100I NM_001424.4 NP_001415.1 P54851 EMP2_HUMAN epithelial membrane protein 2 100 cell proliferation integral to membrane NS(1)|endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 6 TTAGCTGGATGATGGAGGTTA 0.542000 22 79 0 0 1 0 0 PIP5K1C 23396 broad.mit.edu 37 19 3642935 3642935 + Missense_Mutation SNP C C T TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr19:3642935C>T ENST00000335312.3 - 14 1740 c.1652G>A c.(1651-1653)cGg>cAg p.R551Q PIP5K1C_ENST00000589578.1_Missense_Mutation_p.R551Q|PIP5K1C_ENST00000537021.1_Missense_Mutation_p.R551Q|PIP5K1C_ENST00000539785.1_Missense_Mutation_p.R551Q NM_001195733.1|NM_012398.2 NP_001182662.1|NP_036530.1 O60331 PI51C_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type I, gamma 551 axon guidance cytosol|plasma membrane 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding p.R551L(1) large_intestine(3)|ovary(1)|skin(3)|stomach(2) 9 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183) CTGTGTGCGCCGCCTGCAGAG 0.637000 11 80 0 0 1 0 0 NCOA2 10499 broad.mit.edu 37 8 71126156 71126156 + Missense_Mutation SNP G G A TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr8:71126156G>A ENST00000452400.2 - 4 422 c.241C>T c.(241-243)Cgt>Tgt p.R81C NM_006540.2 NP_006531.1 Q15596 NCOA2_HUMAN nuclear receptor coactivator 2 81 cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity PAX3/NCOA2(4)|HEY1/NCOA2(10) NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4) 60 Breast(64;0.201) Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606) TTGATCTGACGAATTTGCTTC 0.343000 T """RUNXBP2, HEY1""" """AML, Chondrosarcoma""" 10 21 0 0 1 0 0 UBE2J1 51465 broad.mit.edu 37 6 90053459 90053459 + Missense_Mutation SNP C C T TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr6:90053459C>T ENST00000435041.2 - 2 326 c.48G>A c.(46-48)atG>atA p.M16I NM_016021.2 NP_057105.2 Q9Y385 UB2J1_HUMAN ubiquitin-conjugating enzyme E2, J1 16 endoplasmic reticulum membrane|integral to membrane ATP binding|ubiquitin-protein ligase activity NS(1)|breast(2)|kidney(1)|large_intestine(2)|lung(11)|stomach(1) 18 all_cancers(76;1.65e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;2.5e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0139) CCGCTTCTTTCATTAAACGTT 0.299000 4 32 0 0 1 0 0 SLC6A20 54716 broad.mit.edu 37 3 45800507 45800507 + Missense_Mutation SNP C C T TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr3:45800507C>T ENST00000358525.4 - 11 1857 c.1742G>A c.(1741-1743)cGt>cAt p.R581H SLC6A20_ENST00000456124.2_Intron|SLC6A20_ENST00000353278.4_Missense_Mutation_p.R544H NM_020208.3 NP_064593.1 Q9NP91 S6A20_HUMAN solute carrier family 6 (proline IMINO transporter), member 20 581 cellular nitrogen compound metabolic process|glycine transport|proline transport apical plasma membrane|integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1) 13 BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267) CTTGAGGCGACGCTGAACAAA 0.602000 13 43 0 0 1 0 0 SMC2 10592 broad.mit.edu 37 9 106900437 106900437 + Silent SNP A A G TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr9:106900437A>G ENST00000286398.7 + 24 3696 c.3408A>G c.(3406-3408)acA>acG p.T1136T SMC2_ENST00000374787.3_Silent_p.T1136T|SMC2_ENST00000374793.3_Silent_p.T1136T NM_001042551.1|NM_001265602.1|NM_006444.2 NP_001036016.1|NP_001252531.1|NP_006435.2 O95347 SMC2_HUMAN structural maintenance of chromosomes 2 1136 cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism condensin complex|cytoplasm|nuclear chromosome ATP binding|protein heterodimerization activity breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 48 CTCATTTCACACATTCTCAGG 0.343000 22 39 0 0 1 0 0 PMF1 11243 broad.mit.edu 37 1 156203509 156203509 + Missense_Mutation SNP G G A TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr1:156203509G>A ENST00000368277.3 + 3 367 c.358G>A c.(358-360)Gag>Aag p.E120K PMF1_ENST00000368273.4_Missense_Mutation_p.E122K|PMF1_ENST00000368279.3_Missense_Mutation_p.E120K|PMF1-BGLAP_ENST00000368276.4_Missense_Mutation_p.E120K|PMF1-BGLAP_ENST00000490491.1_Missense_Mutation_p.E120K|PMF1_ENST00000567140.1_Missense_Mutation_p.E120K|PMF1-BGLAP_ENST00000320139.5_Missense_Mutation_p.E120K|PMF1_ENST00000565805.1_Missense_Mutation_p.E120K NM_007221.3 NP_009152.2 polyamine-modulated factor 1 kidney(1)|large_intestine(2)|lung(3) 6 Hepatocellular(266;0.158) AGTCCGCAAAGAGCCAGCCTG 0.458000 6 121 0 0 1 0 0 QARS 5859 broad.mit.edu 37 3 49136834 49136834 + Silent SNP G G A TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr3:49136834G>A ENST00000306125.6 - 17 1894 c.1557C>T c.(1555-1557)ctC>ctT p.L519L QARS_ENST00000414533.1_Silent_p.L508L P47897 SYQ_HUMAN glutaminyl-tRNA synthetase 519 glutaminyl-tRNA aminoacylation cytosol|mitochondrial matrix ATP binding|glutamine-tRNA ligase activity|protein binding breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1) 19 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) L-Glutamine(DB00130) GCAGGGCCGTGAGTGTAAAGA 0.557000 10 70 0 0 1 0 0 CREBBP 1387 broad.mit.edu 37 16 3788618 3788618 + Missense_Mutation SNP G G A TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr16:3788618G>A ENST00000262367.5 - 26 5145 c.4336C>T c.(4336-4338)Cgc>Tgc p.R1446C CREBBP_ENST00000382070.3_Missense_Mutation_p.R1408C NM_004380.2 NP_004371.2 Q92793 CBP_HUMAN CREB binding protein 1446 Cys/His-rich. cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding p.R1446C(6)|p.R1446G(1) NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21) 295 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) ACGGCTGTGCGGAGGCAACGT 0.413000 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome 5 21 0 0 1 0 0 VPS13D 55187 broad.mit.edu 37 1 12460316 12460316 + Missense_Mutation SNP G G A TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr1:12460316G>A ENST00000358136.3 + 61 11843 c.11713G>A c.(11713-11715)Gag>Aag p.E3905K VPS13D_ENST00000356315.4_Missense_Mutation_p.E3880K|VPS13D_ENST00000496628.1_3'UTR NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 3904 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) TGAGGTCATCGAGACCGGCCC 0.552000 14 32 0 0 1 0 0 MAMDC4 158056 broad.mit.edu 37 9 139752992 139752992 + Missense_Mutation SNP G G A TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr9:139752992G>A ENST00000445819.1 + 24 3102 c.3052G>A c.(3052-3054)Gag>Aag p.E1018K MAMDC4_ENST00000485732.1_3'UTR|MAMDC4_ENST00000317446.2_Missense_Mutation_p.E939K Q6UXC1 AEGP_HUMAN MAM domain containing 4 1018 MAM 6. protein transport integral to membrane breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 19 all_cancers(76;0.0763)|all_epithelial(76;0.198) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171) CCTGGGCACAGAGGCAGGTAC 0.706000 3 12 0 0 1 0 0 NTRK1 4914 broad.mit.edu 37 1 156845927 156845927 + Silent SNP C C T TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr1:156845927C>T ENST00000368196.3 + 12 1659 c.1539C>T c.(1537-1539)ggC>ggT p.G513G NTRK1_ENST00000524377.1_Silent_p.G519G|NTRK1_ENST00000392302.2_Silent_p.G483G|NTRK1_ENST00000358660.3_Silent_p.G516G NM_001012331.1 NP_001012331.1 P04629 NTRK1_HUMAN neurotrophic tyrosine kinase, receptor, type 1 519 Protein kinase. activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction endosome|integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) Imatinib(DB00619) TGGGGGAGGGCGCCTTTGGGA 0.632000 T """TPM3, TPR, TFG""" papillary thyroid TSP Lung(10;0.080) 5 69 0 0 1 0 0 OMP 4975 broad.mit.edu 37 11 76814355 76814355 + Missense_Mutation SNP C C T TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr11:76814355C>T ENST00000529803.1 + 1 470 c.470C>T c.(469-471)tCc>tTc p.S157F CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000529629.1_Intron|CAPN5_ENST00000456580.2_Intron|CAPN5_ENST00000278559.3_Intron NM_006189.1 NP_006180.1 P47874 OMP_HUMAN olfactory marker protein 157 sensory perception of smell|synaptic transmission endometrium(1)|kidney(1)|large_intestine(2)|lung(1) 5 CTCAAGGCCTCCGTGGTTTTT 0.602000 11 76 0 0 1 0 0 DYNC2LI1 51626 broad.mit.edu 37 2 44023913 44023913 + Missense_Mutation SNP T T G TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr2:44023913T>G ENST00000260605.8 + 8 733 c.633T>G c.(631-633)caT>caG p.H211Q DYNC2LI1_ENST00000489222.2_3'UTR|DYNC2LI1_ENST00000443170.3_Missense_Mutation_p.H85Q|DYNC2LI1_ENST00000605786.1_Missense_Mutation_p.H212Q NM_001193464.1|NM_016008.3 NP_001180393.1|NP_057092.2 Q8TCX1 DC2L1_HUMAN dynein, cytoplasmic 2, light intermediate chain 1 211 apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium motor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|skin(1) 26 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) TTGTTGCACATTATTATGGAG 0.353000 15 59 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577099 7577099 + Missense_Mutation SNP C C G rs121912660 TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr17:7577099C>G ENST00000420246.2 - 8 971 c.839G>C c.(838-840)aGa>aCa p.R280T TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R280T|TP53_ENST00000445888.2_Missense_Mutation_p.R280T|TP53_ENST00000359597.4_Missense_Mutation_p.R280T|TP53_ENST00000269305.4_Missense_Mutation_p.R280T NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 280 Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity). R -> G (in sporadic cancers; somatic mutation).|R -> I (in sporadic cancers; somatic mutation).|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> T (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R280T(65)|p.R280K(49)|p.R280I(16)|p.0?(8)|p.?(2)|p.R280_D281delRD(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.G279_R280delGR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.D281fs*24(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GCGCCGGTCTCTCCCAGGACA 0.542000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 13 25 0 0 1 0 0 CKAP5 9793 broad.mit.edu 37 11 46786765 46786765 + Silent SNP C C T TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr11:46786765C>T ENST00000529230.1 - 28 3499 c.3453G>A c.(3451-3453)aaG>aaA p.K1151K CKAP5_ENST00000354558.3_Silent_p.K1151K|CKAP5_ENST00000415402.1_Silent_p.K1151K|CKAP5_ENST00000312055.5_Silent_p.K1151K Q14008 CKAP5_HUMAN cytoskeleton associated protein 5 1151 cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization centrosome|cytosol protein binding breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 43 CTTCATCCTCCTTTAAGCTGG 0.398000 27 81 0 0 1 0 0 MFRP 83552 broad.mit.edu 37 11 119216543 119216543 + Missense_Mutation SNP G G C TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr11:119216543G>C ENST00000555262.1 - 4 526 c.367C>G c.(367-369)Cag>Gag p.Q123E C1QTNF5_ENST00000445041.2_5'UTR|MFRP_ENST00000529147.1_5'UTR|MFRP_ENST00000449574.2_Missense_Mutation_p.Q123E|MFRP_ENST00000530681.1_Missense_Mutation_p.Q123E|MFRP_ENST00000360167.4_Missense_Mutation_p.Q123E NM_001278431.1 NP_001265360.1 membrane frizzled-related protein autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1) 18 Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;3.84e-05) CCAGCTGCCTGAGAggtggtg 0.662000 10 60 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7576886 7576886 + Silent SNP C C T TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr17:7576886C>T ENST00000420246.2 - 9 1092 c.960G>A c.(958-960)aaG>aaA p.K320K TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Silent_p.K320K|TP53_ENST00000445888.2_Silent_p.K320K|TP53_ENST00000359597.4_Silent_p.K320K|TP53_ENST00000269305.4_Silent_p.K320K NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 320 Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2. K -> N (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(8)|p.K320N(3)|p.P318fs*15(2)|p.P318fs*21(1)|p.S315fs*22(1)|p.?(1)|p.L308fs*15(1)|p.K320K(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CCAGTGGTTTCTTCTTTGGCT 0.458000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 26 41 0 0 1 0 0 PPP1R1B 84152 broad.mit.edu 37 17 37790282 37790282 + Missense_Mutation SNP G G C TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr17:37790282G>C ENST00000254079.4 + 5 857 c.388G>C c.(388-390)Gaa>Caa p.E130Q PPP1R1B_ENST00000394265.1_Missense_Mutation_p.E94Q|PPP1R1B_ENST00000579000.1_Missense_Mutation_p.E97Q|PPP1R1B_ENST00000580825.1_Missense_Mutation_p.E130Q|PPP1R1B_ENST00000394267.2_Missense_Mutation_p.E94Q NM_032192.3 NP_115568.2 Q9UD71 PPR1B_HUMAN protein phosphatase 1, regulatory (inhibitor) subunit 1B 130 Asp/Glu-rich (acidic). signal transduction cytosol protein kinase inhibitor activity|protein phosphatase inhibitor activity kidney(1)|large_intestine(1)|liver(1)|lung(2) 5 Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) ggatgatgaagaagaggaaga 0.547000 13 103 0 0 1 0 0 MUC15 143662 broad.mit.edu 37 11 26587103 26587103 + Silent SNP T T C TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr11:26587103T>C ENST00000436318.2 - 2 517 c.384A>G c.(382-384)aaA>aaG p.K128K ANO3_ENST00000525139.1_Intron|ANO3_ENST00000537978.1_Intron|ANO3_ENST00000531568.1_Intron|ANO3_ENST00000256737.3_Intron|MUC15_ENST00000527569.1_Silent_p.K128K|MUC15_ENST00000529533.1_Silent_p.K128K|MUC15_ENST00000455601.2_Silent_p.K101K|MUC15_ENST00000281268.8_Silent_p.K128K Q8N387 MUC15_HUMAN mucin 15, cell surface associated 101 extracellular region|integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 25 TAGATGTGGGTTTTAGACTGC 0.453000 20 89 0 0 1 0 0 FCRL5 83416 broad.mit.edu 37 1 157514227 157514227 + Silent SNP C C T TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr1:157514227C>T ENST00000361835.3 - 5 826 c.669G>A c.(667-669)ccG>ccA p.P223P FCRL5_ENST00000368189.3_Silent_p.P223P|FCRL5_ENST00000368191.3_Silent_p.P138P|FCRL5_ENST00000356953.4_Silent_p.P223P|FCRL5_ENST00000368190.3_Silent_p.P223P NM_001195388.1|NM_031281.2 NP_001182317.1|NP_112571.2 Q96RD9 FCRL5_HUMAN Fc receptor-like 5 223 Ig-like C2-type 2. integral to membrane|plasma membrane receptor activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 85 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.231) GGAACCGGAGCGGGACATCTG 0.567000 19 114 0 0 1 0 0 PGM5 5239 broad.mit.edu 37 9 71098912 71098912 + Missense_Mutation SNP C C T TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr9:71098912C>T ENST00000396396.1 + 9 1656 c.1427C>T c.(1426-1428)aCg>aTg p.T476M NM_021965.3 NP_068800.2 Q15124 PGM5_HUMAN phosphoglucomutase 5 476 cell adhesion|cellular calcium ion homeostasis|glucose metabolic process costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1) 34 GTGGCGAAGACGGATAGTTTT 0.502000 17 68 0 0 1 0 0 ACSM5 54988 broad.mit.edu 37 16 20448621 20448621 + Missense_Mutation SNP G G T TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr16:20448621G>T ENST00000331849.4 + 12 1615 c.1468G>T c.(1468-1470)Gcc>Tcc p.A490S NM_017888.2 NP_060358.2 Q6NUN0 ACSM5_HUMAN acyl-CoA synthetase medium-chain family member 5 490 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1) 51 AGTGGAAAGTGCCCTGGCAGA 0.567000 10 63 0.00829132 0.00838773 1 1 0 MFRP 83552 broad.mit.edu 37 11 119216325 119216325 + Missense_Mutation SNP G G C TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr11:119216325G>C ENST00000555262.1 - 5 605 c.446C>G c.(445-447)tCt>tGt p.S149C C1QTNF5_ENST00000445041.2_5'UTR|MFRP_ENST00000529147.1_5'UTR|MFRP_ENST00000449574.2_Missense_Mutation_p.S149C|MFRP_ENST00000530681.1_Missense_Mutation_p.S149C|MFRP_ENST00000360167.4_Missense_Mutation_p.S149C NM_001278431.1 NP_001265360.1 membrane frizzled-related protein autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1) 18 Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;3.84e-05) CCTTGGGCCAGAGAGGAGGCC 0.567000 7 29 0 0 1 0 0 PCDHA8 56140 broad.mit.edu 37 5 140222946 140222946 + Silent SNP G G A TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr5:140222946G>A ENST00000531613.1 + 1 2040 c.2040G>A c.(2038-2040)tcG>tcA p.S680S PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000378123.3_Silent_p.S680S|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron NM_018911.2 NP_061734.1 NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AAGCGTCATCGAGGCAGTCGG 0.627000 12 99 0 0 1 0 0 BCAP29 55973 broad.mit.edu 37 7 107253835 107253835 + Silent SNP G G A TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr7:107253835G>A ENST00000379119.2 + 6 662 c.648G>A c.(646-648)tcG>tcA p.S216S BCAP29_ENST00000445771.2_Silent_p.S216S|BCAP29_ENST00000379117.2_Silent_p.S216S|BCAP29_ENST00000465919.1_Silent_p.S122S|BCAP29_ENST00000379121.2_Silent_p.S122S|BCAP29_ENST00000005259.4_Silent_p.S216S|BCAP29_ENST00000494086.1_3'UTR NM_001008405.2 NP_001008405.1 Q9UHQ4 BAP29_HUMAN B-cell receptor-associated protein 29 216 apoptosis|intracellular protein transport|vesicle-mediated transport endoplasmic reticulum membrane|integral to membrane cervix(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)|urinary_tract(1) 14 AGAGACTTTCGAAAGAATATG 0.333000 10 38 0 0 1 0 0 ANGPTL4 51129 broad.mit.edu 37 19 8429403 8429403 + Silent SNP G G C TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr19:8429403G>C ENST00000301455.2 + 1 369 c.198G>C c.(196-198)ctG>ctC p.L66L ANGPTL4_ENST00000541807.1_5'UTR|ANGPTL4_ENST00000393962.2_Silent_p.L66L NM_139314.1 NP_647475.1 Q9BY76 ANGL4_HUMAN angiopoietin-like 4 66 LREHAERTRSQLSALER -> CANTGAHPQSAERAGA (in Ref. 5; AAD41088). angiogenesis|cell differentiation|cellular lipid metabolic process|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|positive regulation of angiogenesis|response to hypoxia|signal transduction|triglyceride homeostasis extracellular space|proteinaceous extracellular matrix enzyme inhibitor activity|receptor binding large_intestine(1)|lung(1)|ovary(2)|skin(2) 6 GCAGTCAGCTGAGCGCGCTGG 0.716000 3 5 0 0 1 0 0 TRPM7 54822 broad.mit.edu 37 15 50866552 50866552 + Missense_Mutation SNP T T A TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr15:50866552T>A ENST00000313478.7 - 36 5508 c.5227A>T c.(5227-5229)Act>Tct p.T1743S TRPM7_ENST00000560955.1_Missense_Mutation_p.T1742S|TRPM7_ENST00000561443.1_5'UTR NM_017672.4 NP_060142.3 Q96QT4 TRPM7_HUMAN transient receptor potential cation channel, subfamily M, member 7 1743 Alpha-type protein kinase. cell death integral to membrane ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3) 52 all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045) TCTTCCAGAGTATTAGTTGGA 0.358000 6 88 0 0 1 0 0 RANBP2 5903 broad.mit.edu 37 2 109400167 109400167 + Missense_Mutation SNP A A G rs141352150 TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr2:109400167A>G ENST00000283195.6 + 29 9611 c.9485A>G c.(9484-9486)aAt>aGt p.N3162S NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 3162 PPIase cyclophilin-type. carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 TCCATGGCCAATCAAGGCCAG 0.368000 10 88 0 0 1 0 0 ULK2 9706 broad.mit.edu 37 17 19685248 19685248 + Missense_Mutation SNP C C G TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr17:19685248C>G ENST00000395544.4 - 23 3092 c.2593G>C c.(2593-2595)Gag>Cag p.E865Q ULK2_ENST00000361658.2_Missense_Mutation_p.E865Q NM_014683.3 NP_055498.3 Q8IYT8 ULK2_HUMAN unc-51 like autophagy activating kinase 2 865 signal transduction ATP binding|protein binding|protein serine/threonine kinase activity large_intestine(1)|skin(4)|stomach(1) 6 all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186) ACCACACTCTCCTGGATCTGG 0.522000 13 102 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152282251 152282251 + Missense_Mutation SNP G G C TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr1:152282251G>C ENST00000368799.1 - 3 5146 c.5111C>G c.(5110-5112)tCt>tGt p.S1704C FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1704 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TCCGACTACAGATGAATCTTG 0.572000 Ichthyosis 30 349 0 0 1 0 0 SECISBP2L 9728 broad.mit.edu 37 15 49329879 49329879 + Missense_Mutation SNP C C T TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr15:49329879C>T ENST00000559471.1 - 2 375 c.112G>A c.(112-114)Gat>Aat p.D38N SECISBP2L_ENST00000261847.3_Missense_Mutation_p.D38N NM_001193489.1 NP_001180418.1 Q93073 SBP2L_HUMAN SECIS binding protein 2-like 38 breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1) 46 CTTCCATTATCATTTGGGAGA 0.423000 5 32 0 0 1 0 0 CYFIP1 23191 broad.mit.edu 37 15 22929892 22929892 + Missense_Mutation SNP A A G TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr15:22929892A>G ENST00000313077.7 + 6 691 c.566A>G c.(565-567)aAg>aGg p.K189R CYFIP1_ENST00000560848.1_Missense_Mutation_p.K189R NM_014608.2 NP_055423.1 Q7L576 CYFP1_HUMAN cytoplasmic FMR1 interacting protein 1 189 axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome actin filament binding|Rac GTPase binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101) TCAGCGTACAAGAGGTGAGCA 0.567000 8 26 0 0 1 0 0 PAX3 5077 broad.mit.edu 37 2 223096999 223096999 + Missense_Mutation SNP G G A TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr2:223096999G>A ENST00000350526.4 - 5 726 c.590C>T c.(589-591)tCa>tTa p.S197L PAX3_ENST00000392069.2_Missense_Mutation_p.S197L|PAX3_ENST00000344493.4_Missense_Mutation_p.S197L|PAX3_ENST00000409551.3_Missense_Mutation_p.S196L|PAX3_ENST00000336840.6_Missense_Mutation_p.S197L|PAX3_ENST00000392070.2_Missense_Mutation_p.S197L NM_181457.3 NP_852122.1 P23760 PAX3_HUMAN paired box 3 197 apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749) NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 38 Renal(207;0.0183) Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TTGGGGTGCTGAGGCTAAAAG 0.413000 T """FOXO1A, NCOA1""" alveolar rhabdomyosarcoma Waardenburg syndrome; craniofacial-deafness-hand syndrome 10 92 0 0 1 0 0 TRIL 9865 broad.mit.edu 37 7 28996417 28996417 + RNA SNP C C T TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr7:28996417C>T ENST00000322982.3 - 0 1517 Q7L0X0 TRIL_HUMAN TLR4 interactor with leucine-rich repeats inflammatory response|innate immune response|regulation of cytokine production involved in immune response|toll-like receptor 4 signaling pathway lipopolysaccharide receptor complex lipopolysaccharide binding GGCGAGGGATCCGCGCAGGAT 0.662000 15 42 0 0 1 0 0 ARID1A 8289 broad.mit.edu 37 1 27101322 27101326 + Frame_Shift_Del DEL CAGAT CAGAT - TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr1:27101322_27101326delCAGAT ENST00000324856.7 + 18 4975_4979 c.4604_4608delCAGAT c.(4603-4608)acagatfs p.TD1535fs ARID1A_ENST00000540690.1_Intron|ARID1A_ENST00000457599.2_Intron|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.TD1152fs NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 1535 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) ATGCTGCACACAGATCAGAGGGCCA 0.605 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 13 76 --- --- --- --- ZZZ3 26009 broad.mit.edu 37 1 78098224 78098224 + Frame_Shift_Del DEL T T - TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr1:78098224delT ENST00000370801.3 - 5 1291 c.816delA c.(814-816)caafs p.Q272fs ZZZ3_ENST00000370798.1_Intron|ZZZ3_ENST00000476275.1_5'UTR NM_015534.4 NP_056349.1 Q8IYH5 ZZZ3_HUMAN zinc finger, ZZ-type containing 3 272 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2) 39 TGACCTGCACTTGTGAATCTG 0.458 37 246 --- --- --- --- RP11-353N4.5 0 broad.mit.edu 37 1 149649078 149649079 + RNA INS - - A rs140263023 TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr1:149649078_149649079insA ENST00000608683.1 - 0 533_534 AGAGAGCCTTCAAAACCTCTTA 0.426 8 23 --- --- --- --- SMC6 79677 broad.mit.edu 37 2 17898126 17898126 + Frame_Shift_Del DEL T T - TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr2:17898126delT ENST00000448223.2 - 14 1497 c.1228delA c.(1228-1230)atafs p.I410fs SMC6_ENST00000381272.4_Frame_Shift_Del_p.I436fs|SMC6_ENST00000351948.4_Frame_Shift_Del_p.I410fs|SMC6_ENST00000402989.1_Frame_Shift_Del_p.I410fs NM_001142286.1 NP_001135758.1 Q96SB8 SMC6_HUMAN structural maintenance of chromosomes 6 410 DNA recombination|DNA repair chromosome|nucleus ATP binding NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 43 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) AACCAAGATATTTTTTTTTGT 0.343 7 116 --- --- --- --- SDC1 6382 broad.mit.edu 37 2 20405159 20405160 + Frame_Shift_Ins INS - - G TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr2:20405159_20405160insG ENST00000381150.1 - 3 482_483 c.92_93insC c.(91-93)cctfs p.P31fs SDC1_ENST00000482879.1_5'UTR|SDC1_ENST00000403076.1_Frame_Shift_Ins_p.P31fs|SDC1_ENST00000254351.4_Frame_Shift_Ins_p.P31fs NM_001006946.1 NP_001006947 P18827 SDC1_HUMAN syndecan 1 31 lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development cytoplasm|extracellular region|focal adhesion|integral to plasma membrane cytoskeletal protein binding|protein C-terminus binding NS(1)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|skin(2) 21 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) OV - Ovarian serous cystadenocarcinoma(76;0.221) CTTGATCTTCAGGGGGCAAATT 0.550 7 106 --- --- --- --- RARB 5915 broad.mit.edu 37 3 25216052 25216053 + Frame_Shift_Del DEL CC CC - TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr3:25216052_25216053delCC ENST00000404969.1 + 1 164_165 c.164_165delCC c.(163-165)accfs p.T55fs P10826 RARB_HUMAN retinoic acid receptor, beta 55 Modulating. embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 28 Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799) GGATGCAGCACCCCGTCGCCGG 0.559 13 42 --- --- --- --- ALS2CL 259173 broad.mit.edu 37 3 46714826 46714827 + Splice_Site DEL CA CA - TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr3:46714826_46714827delCA ENST00000318962.4 - 22 2556 c.e22+1 ALS2CL_ENST00000383742.3_Splice_Site|ALS2CL_ENST00000415953.1_Splice_Site NM_147129.3 NP_667340.2 Q60I27 AL2CL_HUMAN ALS2 C-terminal like endosome organization|regulation of Rho protein signal transduction GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2) 29 BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202) GCCTCCCTCTCACCTGATTGCT 0.609 2 4 --- --- --- --- CTC-338M12.9 0 broad.mit.edu 37 5 180708776 180708777 + RNA INS - - G rs140221514 TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr5:180708776_180708777insG ENST00000412295.2 + 0 238 gggcggtaggagggggctggag 0.728 2 4 --- --- --- --- BTN2A3P 54718 broad.mit.edu 37 6 26430817 26430817 + RNA DEL A A - rs143133904 TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr6:26430817delA ENST00000466808.2 + 0 1447 gctcagtctcaaaaaaaaaaa 0.537 3 3 --- --- --- --- AZGP1P1 646282 broad.mit.edu 37 7 99578706 99578706 + RNA DEL A A - TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr7:99578706delA ENST00000425474.1 + 0 87 NR_036679.1 cttagtttacagtgaaaacaa 0.522 2 4 --- --- --- --- PNLIPRP2 5408 broad.mit.edu 37 10 118396277 118396278 + RNA INS - - T rs148140777 by1000genomes TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr10:118396277_118396278insT ENST00000537242.1 + 0 962 PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000298771.7_RNA NM_005396.4 NP_005387.2 P54317 LIPR2_HUMAN pancreatic lipase-related protein 2 galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process extracellular space acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity endometrium(1)|large_intestine(1)|lung(11)|prostate(3) 16 all cancers(201;0.015) GACAAATTATGGTTTTTTTTTT 0.421 6 4 --- --- --- --- TACC2 10579 broad.mit.edu 37 10 123844356 123844356 + Frame_Shift_Del DEL C C - TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr10:123844356delC ENST00000369005.1 + 4 2681 c.2341delC c.(2341-2343)cccfs p.P782fs TACC2_ENST00000515603.1_Frame_Shift_Del_p.P782fs|TACC2_ENST00000453444.2_Frame_Shift_Del_p.P782fs|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000334433.3_Frame_Shift_Del_p.P782fs|TACC2_ENST00000515273.1_Frame_Shift_Del_p.P782fs NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 782 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) GGTGCCACATCCCCCCCAGGG 0.642 10 93 --- --- --- --- DNAH3 55567 broad.mit.edu 37 16 20952843 20952844 + Frame_Shift_Ins INS - - G TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr16:20952843_20952844insG ENST00000261383.3 - 59 11532_11533 c.11533_11534insC c.(11533-11535)caafs p.Q3845fs DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 3845 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) GAGAATGTCTTGTGCCAACTCC 0.475 36 124 --- --- --- --- CTB-186H2.2 0 broad.mit.edu 37 17 34292045 34292046 + RNA INS - - AAAAAAAAAAA TCGA-FD-A3SP-01A-31D-A22Z-08 TCGA-FD-A3SP-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d838ad09-33b5-4ead-b405-6ce558a5ed59 14d4450c-5966-46b9-91fe-d4b745a678ff g.chr17:34292045_34292046insAAAAAAAAAAA ENST00000586205.1 - 0 283 gactccgtttcaaaaaaaaaaa 0.441 5 5 --- --- --- ---