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 RNF213 57674 broad.mit.edu 37 17 78345780 78345780 + Missense_Mutation SNP C C A TCGA-DU-7302-01A-11D-2086-08 TCGA-DU-7302-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda7efe2-081f-427a-b863-c894647a16cf 9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb g.chr17:78345780C>A ENST00000582970.1 + 47 12675 c.12532C>A c.(12532-12534)Ctg>Atg p.L4178M RNF213_ENST00000336301.6_Missense_Mutation_p.L2251M|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.L4227M|CTD-2047H16.4_ENST00000575034.1_RNA NM_001256071.1 NP_001243000.1 Q9HCF4 ALO17_HUMAN ring finger protein 213 0 NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) CATCAACTGCCTGGAGGTAAG 0.308000 3 32 1 1 1 1 0 FFAR3 2865 broad.mit.edu 37 19 35850577 35850577 + Missense_Mutation SNP C C T rs141433014 TCGA-DU-7302-01A-11D-2086-08 TCGA-DU-7302-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda7efe2-081f-427a-b863-c894647a16cf 9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb g.chr19:35850577C>T ENST00000327809.4 + 2 986 c.785C>T c.(784-786)aCg>aTg p.T262M FFAR3_ENST00000594310.1_Missense_Mutation_p.T262M NM_005304.3 NP_005295.1 O14843 FFAR3_HUMAN free fatty acid receptor 3 262 integral to plasma membrane G-protein coupled receptor activity|lipid binding endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1) 17 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221) ATCTACGTGACGCTTCTCAGC 0.567000 6 232 0 0 1 0 0 CDH23 64072 broad.mit.edu 37 10 73544798 73544798 + Missense_Mutation SNP C C T TCGA-DU-7302-01A-11D-2086-08 TCGA-DU-7302-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda7efe2-081f-427a-b863-c894647a16cf 9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb g.chr10:73544798C>T ENST00000224721.6 + 42 5673 c.5668C>T c.(5668-5670)Cgc>Tgc p.R1890C NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 1885 Cadherin 18. calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 CTGCAATGCACGCCTCACCTT 0.602000 10 105 0 0 1 0 0 PKN1 5585 broad.mit.edu 37 19 14574736 14574736 + Missense_Mutation SNP C C T TCGA-DU-7302-01A-11D-2086-08 TCGA-DU-7302-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda7efe2-081f-427a-b863-c894647a16cf 9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb g.chr19:14574736C>T ENST00000242783.6 + 11 1757 c.1592C>T c.(1591-1593)aCc>aTc p.T531I PKN1_ENST00000342216.4_Missense_Mutation_p.T537I NM_002741.3 NP_002732.3 Q16512 PKN1_HUMAN protein kinase N1 531 activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent endosome|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1) 31 GGCACAGGCACCTTTAGCCCT 0.667000 3 25 0 0 1 0 0 CCDC89 220388 broad.mit.edu 37 11 85397064 85397064 + Missense_Mutation SNP G G A TCGA-DU-7302-01A-11D-2086-08 TCGA-DU-7302-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda7efe2-081f-427a-b863-c894647a16cf 9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb g.chr11:85397064G>A ENST00000316398.3 - 1 256 c.110C>T c.(109-111)aCg>aTg p.T37M NM_152723.1 NP_689936.1 Q8N998 CCD89_HUMAN coiled-coil domain containing 89 37 cytoplasm|nucleus NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1) 15 Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572) CTTAAACTCCGTCTCCTCTTC 0.552000 5 57 0 0 1 0 0 RP11-368J21.3 0 broad.mit.edu 37 16 22587946 22587946 + RNA SNP G G A TCGA-DU-7302-01A-11D-2086-08 TCGA-DU-7302-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda7efe2-081f-427a-b863-c894647a16cf 9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb g.chr16:22587946G>A ENST00000550753.1 + 0 2421 NR_003676.2 CTCTCCAGTCGTGGGGTCTTT 0.527000 20 53 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21227213 21227213 + Silent SNP G G A TCGA-DU-7302-01A-11D-2086-08 TCGA-DU-7302-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda7efe2-081f-427a-b863-c894647a16cf 9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb g.chr2:21227213G>A ENST00000233242.1 - 28 12142 c.12015C>T c.(12013-12015)gcC>gcT p.A4005A NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 4005 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) CGGTGCCTACGGCTGGGGAGG 0.507000 37 38 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195511870 195511870 + Missense_Mutation SNP G G A TCGA-DU-7302-01A-11D-2086-08 TCGA-DU-7302-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda7efe2-081f-427a-b863-c894647a16cf 9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb g.chr3:195511870G>A ENST00000463781.3 - 2 7040 c.6581C>T c.(6580-6582)cCt>cTt p.P2194L MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.P2194L|MUC4_ENST00000346145.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 983 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GTCGGTGACAGGAAGAGGGGT 0.592000 4 7 0 0 1 0 0 CES3 23491 broad.mit.edu 37 16 66997813 66997813 + Missense_Mutation SNP C C T rs148620443 byFrequency TCGA-DU-7302-01A-11D-2086-08 TCGA-DU-7302-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda7efe2-081f-427a-b863-c894647a16cf 9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb g.chr16:66997813C>T ENST00000303334.4 + 4 606 c.535C>T c.(535-537)Cgc>Tgc p.R179C CES3_ENST00000394037.1_Missense_Mutation_p.R179C NM_024922.5 NP_079198.2 Q6UWW8 EST3_HUMAN carboxylesterase 3 179 endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1) 24 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127) AGTCCAGTACCGCCTTGGGGT 0.607000 57 59 0 0 1 0 0 TIMD4 91937 broad.mit.edu 37 5 156378778 156378778 + Missense_Mutation SNP C C T TCGA-DU-7302-01A-11D-2086-08 TCGA-DU-7302-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda7efe2-081f-427a-b863-c894647a16cf 9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb g.chr5:156378778C>T ENST00000274532.2 - 3 480 c.424G>A c.(424-426)Gca>Aca p.A142T TIMD4_ENST00000407087.3_Missense_Mutation_p.A142T NM_138379.2 NP_612388.2 Q96H15 TIMD4_HUMAN T-cell immunoglobulin and mucin domain containing 4 142 Thr-rich. integral to membrane NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2) 37 Renal(175;0.00488) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GTGGTGGTTGCTGTTCTGTGC 0.502000 15 401 0 0 1 0 0 KCNJ1 3758 broad.mit.edu 37 11 128710111 128710111 + Missense_Mutation SNP C C T TCGA-DU-7302-01A-11D-2086-08 TCGA-DU-7302-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda7efe2-081f-427a-b863-c894647a16cf 9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb g.chr11:128710111C>T ENST00000392665.2 - 2 172 c.28G>A c.(28-30)Gtc>Atc p.V10I KCNJ1_ENST00000392664.2_Missense_Mutation_p.V29I|KCNJ1_ENST00000392666.1_Missense_Mutation_p.V10I|KCNJ1_ENST00000440599.2_Missense_Mutation_p.V10I|KCNJ1_ENST00000324036.3_Missense_Mutation_p.V10I NM_153764.2 NP_722448.1 P48048 IRK1_HUMAN potassium inwardly-rectifying channel, subfamily J, member 1 29 excretion voltage-gated potassium channel complex ATP binding|inward rectifier potassium channel activity breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1) 23 all_hematologic(175;0.0641) all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425) OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942) Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124) AAGCGAGTGACGACCCATTTC 0.408000 9 92 0 0 1 0 0 LRRC18 474354 broad.mit.edu 37 10 50122058 50122058 + Missense_Mutation SNP C C T TCGA-DU-7302-01A-11D-2086-08 TCGA-DU-7302-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda7efe2-081f-427a-b863-c894647a16cf 9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb g.chr10:50122058C>T ENST00000374160.3 - 1 219 c.143G>A c.(142-144)cGc>cAc p.R48H WDFY4_ENST00000325239.5_Intron|RP11-523O18.7_ENST00000430438.1_RNA|WDFY4_ENST00000413659.2_Intron|LRRC18_ENST00000298124.3_Missense_Mutation_p.R48H NM_001006939.3 NP_001006940.3 Q8N456 LRC18_HUMAN leucine rich repeat containing 18 48 cytoplasm NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 18 GTCACTAAGGCGCAGAATACA 0.507000 23 42 0 0 1 0 0 KRT16P2 0 broad.mit.edu 37 17 16734855 16734855 + RNA SNP C C T rs688852 by1000genomes TCGA-DU-7302-01A-11D-2086-08 TCGA-DU-7302-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda7efe2-081f-427a-b863-c894647a16cf 9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb g.chr17:16734855C>T ENST00000579062.1 - 0 460 p.R183Q(1) CACAGTCTGCCGCAGGGCCAG 0.632000 6 48 0 0 1 0 0 ADCY3 109 broad.mit.edu 37 2 25062839 25062839 + Missense_Mutation SNP C C T TCGA-DU-7302-01A-11D-2086-08 TCGA-DU-7302-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda7efe2-081f-427a-b863-c894647a16cf 9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb g.chr2:25062839C>T ENST00000260600.5 - 6 2109 c.1258G>A c.(1258-1260)Gtg>Atg p.V420M ADCY3_ENST00000405392.1_Missense_Mutation_p.V31M NM_004036.3 NP_004027.2 O60266 ADCY3_HUMAN adenylate cyclase 3 420 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|sensory perception of smell|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to plasma membrane ATP binding|calmodulin binding|metal ion binding p.V420M(1) NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2) 44 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203) CCCCCCAGCACGGTGCCCGTG 0.642000 16 106 0 0 1 0 0 ZNF878 729747 broad.mit.edu 37 19 12155757 12155757 + Missense_Mutation SNP C C A TCGA-DU-7302-01A-11D-2086-08 TCGA-DU-7302-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda7efe2-081f-427a-b863-c894647a16cf 9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb g.chr19:12155757C>A ENST00000602107.1 - 5 599 c.600G>T c.(598-600)agG>agT p.R200S CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA|ZNF878_ENST00000547628.1_Missense_Mutation_p.R153S|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron C9JN71 ZN878_HUMAN zinc finger protein 878 153 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1) 8 AACTGGGAAACCTGAATGCTT 0.423000 4 138 0.000602214 0.000679421 1 1 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-DU-7302-01A-11D-2086-08 TCGA-DU-7302-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda7efe2-081f-427a-b863-c894647a16cf 9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 33 56 0 0 1 0 0 TMEM8A 58986 broad.mit.edu 37 16 427459 427459 + Silent SNP G G A TCGA-DU-7302-01A-11D-2086-08 TCGA-DU-7302-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda7efe2-081f-427a-b863-c894647a16cf 9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb g.chr16:427459G>A ENST00000431232.2 - 3 586 c.426C>T c.(424-426)tcC>tcT p.S142S TMEM8A_ENST00000250930.3_5'UTR|TMEM8A_ENST00000476735.1_5'UTR NM_021259.2 NP_067082.2 Q9HCN3 TMM8A_HUMAN transmembrane protein 8A 142 cell adhesion integral to plasma membrane central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1) 14 AAACGTTGACGGAGGCATTGC 0.677000 OREG0003703 type=REGULATORY REGION|Gene=TMEM8|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 10 21 0 0 1 0 0 FAM50A 9130 broad.mit.edu 37 X 153678570 153678570 + Missense_Mutation SNP A A C TCGA-DU-7302-01A-11D-2086-08 TCGA-DU-7302-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda7efe2-081f-427a-b863-c894647a16cf 9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb g.chrX:153678570A>C ENST00000393600.3 + 12 1024 c.914A>C c.(913-915)aAg>aCg p.K305T NM_004699.3 NP_004690.1 Q14320 FA50A_HUMAN family with sequence similarity 50, member A 305 spermatogenesis nucleus breast(2)|central_nervous_system(1)|lung(9)|ovary(2)|skin(1) 15 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CATGCAGGCAAGGTGGTGCTG 0.607000 6 129 0 0 1 0 0 ACSBG1 23205 broad.mit.edu 37 15 78475123 78475123 + Nonsense_Mutation SNP C C T TCGA-DU-7302-01A-11D-2086-08 TCGA-DU-7302-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda7efe2-081f-427a-b863-c894647a16cf 9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb g.chr15:78475123C>T ENST00000258873.4 - 6 873 c.668G>A c.(667-669)tGg>tAg p.W223* ACSBG1_ENST00000541759.1_5'UTR|ACSBG1_ENST00000560817.1_5'UTR NM_001199377.1|NM_015162.4 NP_001186306.1|NP_055977.3 Q96GR2 ACBG1_HUMAN acyl-CoA synthetase bubblegum family member 1 223 long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity p.W223S(1)|p.W223*(1) endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 37 CAACTGTTTCCAGATCTGCAT 0.463000 24 37 0 0 1 0 0 RFXANK 8625 broad.mit.edu 37 19 19307810 19307810 + Missense_Mutation SNP C C T TCGA-DU-7302-01A-11D-2086-08 TCGA-DU-7302-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda7efe2-081f-427a-b863-c894647a16cf 9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb g.chr19:19307810C>T ENST00000303088.4 + 4 700 c.226C>T c.(226-228)Cgg>Tgg p.R76W RFXANK_ENST00000407360.3_Missense_Mutation_p.R76W|RFXANK_ENST00000456252.3_Missense_Mutation_p.R76W|RFXANK_ENST00000392324.4_Missense_Mutation_p.R75W|RFXANK_ENST00000353145.1_Missense_Mutation_p.R75W NM_003721.2 NP_003712.1 O14593 RFXK_HUMAN regulatory factor X-associated ankyrin-containing protein 76 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity NS(1)|breast(1)|endometrium(1)|lung(8)|ovary(2)|prostate(1) 14 Epithelial(12;0.00228) TCTCACCAACCGGCAGCGAGG 0.617000 23 185 0 0 1 0 0 TRIM54 57159 broad.mit.edu 37 2 27522276 27522276 + Missense_Mutation SNP C C T TCGA-DU-7302-01A-11D-2086-08 TCGA-DU-7302-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda7efe2-081f-427a-b863-c894647a16cf 9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb g.chr2:27522276C>T ENST00000296098.4 + 3 775 c.505C>T c.(505-507)Cgc>Tgc p.R169C TRIM54_ENST00000380075.2_Missense_Mutation_p.R169C NM_032546.3 NP_115935.3 Q9BYV2 TRI54_HUMAN tripartite motif containing 54 169 Mediates microtubule-binding and homooligomerization (By similarity). cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization microtubule|sarcomere signal transducer activity|zinc ion binding cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CATTTACAAACGCCAGAAGGT 0.522000 13 21 0 0 1 0 0 FLNA 0 broad.mit.edu 37 X 153593776 153593776 + Missense_Mutation SNP A A T TCGA-DU-7302-01A-11D-2086-08 TCGA-DU-7302-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda7efe2-081f-427a-b863-c894647a16cf 9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb g.chrX:153593776A>T ENST00000422373.1 - 10 1756 c.1508T>A c.(1507-1509)tTc>tAc p.F503Y FLNA_ENST00000360319.4_Missense_Mutation_p.F503Y|FLNA_ENST00000344736.4_Missense_Mutation_p.F503Y|FLNA_ENST00000369850.3_Missense_Mutation_p.F503Y NM_001456.3 NP_001447.2 P21333 FLNA_HUMAN filamin A, alpha 503 actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GTACACCTTGAAGTCAGCTGT 0.672000 8 85 0 0 1 0 0 MYH2 4620 broad.mit.edu 37 17 10432336 10432336 + Missense_Mutation SNP C C T TCGA-DU-7302-01A-11D-2086-08 TCGA-DU-7302-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda7efe2-081f-427a-b863-c894647a16cf 9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb g.chr17:10432336C>T ENST00000245503.5 - 27 3799 c.3415G>A c.(3415-3417)Gag>Aag p.E1139K MYH2_ENST00000397183.2_Missense_Mutation_p.E1139K|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000532183.1_Intron NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 1139 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 CGCTGCTTCTCTGCTTTGGCC 0.582000 34 70 0 0 1 0 0 FASLG 356 broad.mit.edu 37 1 172628634 172628634 + Missense_Mutation SNP G G T TCGA-DU-7302-01A-11D-2086-08 TCGA-DU-7302-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda7efe2-081f-427a-b863-c894647a16cf 9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb g.chr1:172628634G>T ENST00000367721.2 + 1 477 c.293G>T c.(292-294)gGc>gTc p.G98V FASLG_ENST00000340030.3_Missense_Mutation_p.G98V NM_000639.1 NP_000630.1 P48023 TNFL6_HUMAN Fas ligand (TNF superfamily, member 6) 98 activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction extracellular space|integral to plasma membrane cytokine activity breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1) 19 GTAGGATTGGGCCTGGGGATG 0.572000 5 41 0.014758 0.0162338 1 1 0 CNNM2 54805 broad.mit.edu 37 10 104809481 104809481 + Missense_Mutation SNP A A G TCGA-DU-7302-01A-11D-2086-08 TCGA-DU-7302-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda7efe2-081f-427a-b863-c894647a16cf 9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb g.chr10:104809481A>G ENST00000369878.3 + 2 1763 c.1639A>G c.(1639-1641)Atc>Gtc p.I547V CNNM2_ENST00000457502.2_Missense_Mutation_p.I305V|CNNM2_ENST00000433628.2_Missense_Mutation_p.I547V NM_017649.4 NP_060119.3 Q9H8M5 CNNM2_HUMAN cyclin M2 547 CBS 2. ion transport integral to membrane central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1) 19 Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198) Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) TCACCTGGCTATCGTGCAGCG 0.378000 7 128 0 0 1 0 0 SUMF2 25870 broad.mit.edu 37 7 56145816 56145816 + Nonsense_Mutation SNP A A T TCGA-DU-7302-01A-11D-2086-08 TCGA-DU-7302-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda7efe2-081f-427a-b863-c894647a16cf 9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb g.chr7:56145816A>T ENST00000434526.2 + 7 701 c.670A>T c.(670-672)Aaa>Taa p.K224* SUMF2_ENST00000275607.9_Nonsense_Mutation_p.K117*|SUMF2_ENST00000437307.2_Nonsense_Mutation_p.K136*|SUMF2_ENST00000342190.6_Nonsense_Mutation_p.K224*|SUMF2_ENST00000395435.2_Nonsense_Mutation_p.K140*|SUMF2_ENST00000395436.2_Nonsense_Mutation_p.K209*|SUMF2_ENST00000413756.1_Nonsense_Mutation_p.K205* NM_001042469.1|NM_015411.2 NP_001035934.2|NP_056226.2 Q8NBJ7 SUMF2_HUMAN sulfatase modifying factor 2 205 endoplasmic reticulum lumen metal ion binding breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1) 14 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) CAAGGGAGACAAAGCTGAGGA 0.532000 16 117 0 0 1 0 0 GLUD1 2746 broad.mit.edu 37 10 88819949 88819949 + Missense_Mutation SNP A A C TCGA-DU-7302-01A-11D-2086-08 TCGA-DU-7302-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda7efe2-081f-427a-b863-c894647a16cf 9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb g.chr10:88819949A>C ENST00000277865.4 - 9 1343 c.1247T>G c.(1246-1248)aTc>aGc p.I416S GLUD1_ENST00000537649.1_Missense_Mutation_p.I249S|GLUD1_ENST00000544149.1_Missense_Mutation_p.I283S NM_005271.3 NP_005262.1 P00367 DHE3_HUMAN glutamate dehydrogenase 1 416 glutamate biosynthetic process|glutamate catabolic process|positive regulation of insulin secretion mitochondrial matrix ADP binding|ATP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|identical protein binding|leucine binding|NAD+ binding endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1) 22 L-Glutamic Acid(DB00142)|NADH(DB00157) CTCCAGGAAGATCTTGTCAGC 0.398000 7 157 0 0 1 0 0 SOX3 6658 broad.mit.edu 37 X 139586763 139586763 + Missense_Mutation SNP G G A TCGA-DU-7302-01A-11D-2086-08 TCGA-DU-7302-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda7efe2-081f-427a-b863-c894647a16cf 9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb g.chrX:139586763G>A ENST00000370536.2 - 1 462 c.463C>T c.(463-465)Cgc>Tgc p.R155C NM_005634.2 NP_005625.2 P41225 SOX3_HUMAN SRY (sex determining region Y)-box 3 155 face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent nucleus DNA binding p.R155C(1) haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1) 10 Acute lymphoblastic leukemia(192;7.65e-05) GCCATTTTGCGCCGCTGCCCG 0.632000 35 36 0 0 1 0 0 TGM7 116179 broad.mit.edu 37 15 43584939 43584939 + Missense_Mutation SNP G G A TCGA-DU-7302-01A-11D-2086-08 TCGA-DU-7302-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda7efe2-081f-427a-b863-c894647a16cf 9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb g.chr15:43584939G>A ENST00000452443.2 - 3 411 c.407C>T c.(406-408)aCt>aTt p.T136I NM_052955.2 NP_443187.1 Q96PF1 TGM7_HUMAN transglutaminase 7 136 peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1) 39 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;9.14e-07) L-Glutamine(DB00130) TAGGATGAAAGTTCCCAGCGG 0.478000 66 86 0 0 1 0 0 RRN3P2 0 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-DU-7302-01A-11D-2086-08 TCGA-DU-7302-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda7efe2-081f-427a-b863-c894647a16cf 9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 12 60 0 0 1 0 0 MVD 4597 broad.mit.edu 37 16 88719764 88719764 + Missense_Mutation SNP C C A TCGA-DU-7302-01A-11D-2086-08 TCGA-DU-7302-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda7efe2-081f-427a-b863-c894647a16cf 9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb g.chr16:88719764C>A ENST00000301012.3 - 9 1095 c.1066G>T c.(1066-1068)Gct>Tct p.A356S NM_002461.1 NP_002452.1 P53602 MVD1_HUMAN mevalonate (diphospho) decarboxylase 356 cholesterol biosynthetic process|positive regulation of cell proliferation cytosol ATP binding|diphosphomevalonate decarboxylase activity|Hsp70 protein binding|kinase activity|protein homodimerization activity endometrium(3)|large_intestine(1)|lung(7)|ovary(1) 12 BRCA - Breast invasive adenocarcinoma(80;0.0478) GCCAGCGCAGCCTGAAGCTCA 0.617000 3 35 1 1 1 1 0 FLNB 2317 broad.mit.edu 37 3 58095050 58095050 + Splice_Site SNP G G C TCGA-DU-7302-01A-11D-2086-08 TCGA-DU-7302-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda7efe2-081f-427a-b863-c894647a16cf 9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb g.chr3:58095050G>C ENST00000357272.4 + 14 2364 c.e14+1 FLNB_ENST00000429972.2_Splice_Site|FLNB_ENST00000419752.2_Splice_Site|FLNB_ENST00000493452.1_Splice_Site|FLNB_ENST00000490882.1_Splice_Site|FLNB_ENST00000358537.3_Splice_Site|FLNB_ENST00000348383.5_Splice_Site|FLNB_ENST00000295956.4_Splice_Site O75369 FLNB_HUMAN filamin B, beta actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5) 120 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) CCCCTACAGGGTAGGTTGTGA 0.552000 7 13 0 0 1 0 0 AL021546.6 0 broad.mit.edu 37 12 120894951 120894951 + Missense_Mutation SNP C C T TCGA-DU-7302-01A-11D-2086-08 TCGA-DU-7302-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda7efe2-081f-427a-b863-c894647a16cf 9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb g.chr12:120894951C>T ENST00000551806.1 + 4 421 c.421C>T c.(421-423)Cgt>Tgt p.R141C GATC_ENST00000551765.1_Silent_p.R109R ACTCCCATCGCGTCGTGGAGG 0.478000 OREG0022192 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 29 0 0 1 0 0 HSPG2 3339 broad.mit.edu 37 1 22198783 22198783 + Missense_Mutation SNP C C T TCGA-DU-7302-01A-11D-2086-08 TCGA-DU-7302-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda7efe2-081f-427a-b863-c894647a16cf 9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb g.chr1:22198783C>T ENST00000374695.3 - 33 4196 c.4117G>A c.(4117-4119)Gtg>Atg p.V1373M NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 1373 Laminin IV type A 3. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) ACGGGTTCCACAGTGAATTCT 0.592000 2 1 0 0 1 0 0 KLHL15 80311 broad.mit.edu 37 X 24006740 24006740 + Silent SNP T T C TCGA-DU-7302-01A-11D-2086-08 TCGA-DU-7302-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda7efe2-081f-427a-b863-c894647a16cf 9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb g.chrX:24006740T>C ENST00000328046.8 - 4 1368 c.1113A>G c.(1111-1113)gaA>gaG p.E371E NM_030624.2 NP_085127.2 Q96M94 KLH15_HUMAN kelch-like family member 15 371 autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1) 22 CTACAGCAAATTCAGAGCGTG 0.458000 87 109 0 0 1 0 0 VWF 7450 broad.mit.edu 37 12 6128787 6128787 + Missense_Mutation SNP G G A rs61749370 TCGA-DU-7302-01A-11D-2086-08 TCGA-DU-7302-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda7efe2-081f-427a-b863-c894647a16cf 9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb g.chr12:6128787G>A ENST00000261405.5 - 28 4051 c.3797C>T c.(3796-3798)cCg>cTg p.P1266L NM_000552.3 NP_000543.2 P04275 VWF_HUMAN von Willebrand factor 1266 P -> L (in VWD2). 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) ATCGTGCAACGGCGGTTCCGA 0.612000 24 44 0 0 1 0 0 ZBTB18 10472 broad.mit.edu 37 1 244217153 244217154 + Frame_Shift_Del DEL AG AG - TCGA-DU-7302-01A-11D-2086-08 TCGA-DU-7302-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda7efe2-081f-427a-b863-c894647a16cf 9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb g.chr1:244217153_244217154delAG ENST00000358704.4 + 2 226_227 c.77_78delAG c.(76-78)cfs p.Q26fs NM_001278196.1|NM_006352.4|NM_205768.2 NP_001265125.1|NP_006343.2|NP_991331.1 zinc finger and BTB domain containing 18 CTGAGCGAGCAGAGACACCAGG 0.505 7 76 --- --- --- --- BRE 9577 broad.mit.edu 37 2 28210865 28210865 + Frame_Shift_Del DEL A A - TCGA-DU-7302-01A-11D-2086-08 TCGA-DU-7302-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda7efe2-081f-427a-b863-c894647a16cf 9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb g.chr2:28210865delA ENST00000344773.2 + 4 349 c.211delA c.(211-213)tcfs p.I72fs BRE_ENST00000379632.2_Frame_Shift_Del_p.I72fs|BRE_ENST00000361704.2_Frame_Shift_Del_p.I72fs|BRE_ENST00000603461.1_3'UTR|BRE_ENST00000342045.2_Frame_Shift_Del_p.I72fs|BRE_ENST00000379624.1_Frame_Shift_Del_p.I72fs NM_004899.4 NP_004890.2 Q9NXR7 BRE_HUMAN brain and reproductive organ-expressed (TNFRSF1A modulator) 72 UEV-like 1. apoptosis|chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of anti-apoptosis|positive regulation of DNA repair|response to ionizing radiation|signal transduction BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2) 23 Acute lymphoblastic leukemia(172;0.155) TTCAGGGGATATCATTTTCAA 0.378 12 237 --- --- --- --- AC018730.1 0 broad.mit.edu 37 2 105440965 105440966 + RNA INS - - TGG rs150937258 by1000genomes TCGA-DU-7302-01A-11D-2086-08 TCGA-DU-7302-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda7efe2-081f-427a-b863-c894647a16cf 9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb g.chr2:105440965_105440966insTGG ENST00000458253.1 - 0 147 AC018730.1_ENST00000447876.1_RNA|AC018730.1_ENST00000413121.1_RNA|AC018730.1_ENST00000454729.1_RNA|AC018730.1_ENST00000443988.1_RNA gatggtggtgatggtggtggtg 0.569 3 4 --- --- --- --- GBX2 2637 broad.mit.edu 37 2 237076427 237076429 + In_Frame_Del DEL GGC GGC - TCGA-DU-7302-01A-11D-2086-08 TCGA-DU-7302-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda7efe2-081f-427a-b863-c894647a16cf 9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb g.chr2:237076427_237076429delGGC ENST00000306318.4 - 1 583_585 c.186_188delGCC c.(184-189)ccc>cc p.PP62del AC079135.1_ENST00000415226.1_RNA|GBX2_ENST00000551105.1_In_Frame_Del_p.PP62del|AC079135.1_ENST00000483218.1_RNA NM_001485.2 NP_001476.2 P52951 GBX2_HUMAN gastrulation brain homeobox 2 62 Poly-Pro. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(4) 7 Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179) Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471) GGGCAGCGCGggcggcggcggcg 0.754 2 4 --- --- --- --- FETUB 26998 broad.mit.edu 37 3 186362544 186362544 + Frame_Shift_Del DEL A A - TCGA-DU-7302-01A-11D-2086-08 TCGA-DU-7302-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda7efe2-081f-427a-b863-c894647a16cf 9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb g.chr3:186362544delA ENST00000265029.3 + 4 530 c.429delA c.(427-429)tcfs p.S143fs FETUB_ENST00000450521.1_Frame_Shift_Del_p.S143fs|RP11-134F2.2_ENST00000455926.1_RNA|FETUB_ENST00000539949.1_5'UTR|FETUB_ENST00000382134.3_Frame_Shift_Del_p.S78fs|FETUB_ENST00000382136.3_Frame_Shift_Del_p.S106fs|FETUB_ENST00000488561.1_3'UTR|RP11-134F2.2_ENST00000428501.1_RNA NM_014375.2 NP_055190.2 Q9UGM5 FETUB_HUMAN fetuin B 143 extracellular space cysteine-type endopeptidase inhibitor activity endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1) 20 all_cancers(143;6.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.73e-20) GBM - Glioblastoma multiforme(93;0.0479) CAACAGTTTCAAAAAAAAAGA 0.418 9 122 --- --- --- --- JARID2 3720 broad.mit.edu 37 6 15504753 15504755 + In_Frame_Del DEL CTT CTT - TCGA-DU-7302-01A-11D-2086-08 TCGA-DU-7302-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda7efe2-081f-427a-b863-c894647a16cf 9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb g.chr6:15504753_15504755delCTT ENST00000341776.2 + 9 2715_2717 c.2471_2473delCTT c.(2470-2475)att>a p.TF824del JARID2_ENST00000474854.1_3'UTR|JARID2_ENST00000397311.3_In_Frame_Del_p.TF652del|JARID2_ENST00000541660.1_In_Frame_Del_p.TF786del NM_004973.3 NP_004964.2 Q92833 JARD2_HUMAN jumonji, AT rich interactive domain 2 824 central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent chromatin binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1) 59 Breast(50;0.0142)|Ovarian(93;0.103) all_hematologic(90;0.00612) TCTCTAACAACTTTTTATCGAAC 0.483 11 70 --- --- --- --- ZNF292 23036 broad.mit.edu 37 6 87965943 87965944 + Frame_Shift_Del DEL GA GA - TCGA-DU-7302-01A-11D-2086-08 TCGA-DU-7302-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda7efe2-081f-427a-b863-c894647a16cf 9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb g.chr6:87965943_87965944delGA ENST00000369577.3 + 8 2639_2640 c.2596_2597delGA c.(2596-2598)gfs p.E866fs ZNF292_ENST00000339907.4_Frame_Shift_Del_p.E861fs NM_015021.1 NP_055836.1 O60281 ZN292_HUMAN zinc finger protein 292 866 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 89 all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05) BRCA - Breast invasive adenocarcinoma(108;0.0199) AGAGAATATTGAGAAAGAAAGA 0.401 7 54 --- --- --- --- ZNF292 23036 broad.mit.edu 37 6 87966376 87966377 + Frame_Shift_Del DEL CT CT - TCGA-DU-7302-01A-11D-2086-08 TCGA-DU-7302-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda7efe2-081f-427a-b863-c894647a16cf 9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb g.chr6:87966376_87966377delCT ENST00000369577.3 + 8 3072_3073 c.3029_3030delCT c.(3028-3030)afs p.T1010fs ZNF292_ENST00000339907.4_Frame_Shift_Del_p.T1005fs NM_015021.1 NP_055836.1 O60281 ZN292_HUMAN zinc finger protein 292 1010 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 89 all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05) BRCA - Breast invasive adenocarcinoma(108;0.0199) AATTCAGAAACTCTCAAAATAG 0.356 11 29 --- --- --- --- SPDYE1 285955 broad.mit.edu 37 7 44042300 44042301 + Frame_Shift_Del DEL CT CT - TCGA-DU-7302-01A-11D-2086-08 TCGA-DU-7302-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda7efe2-081f-427a-b863-c894647a16cf 9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb g.chr7:44042300_44042301delCT ENST00000258704.3 + 2 508_509 c.371_372delCT c.(370-372)cfs p.P124fs POLR2J4_ENST00000427076.1_RNA NM_001099435.2|NM_175064.2 NP_001092905.2|NP_778234.2 Q8NFV5 SPDE1_HUMAN speedy/RINGO cell cycle regulator family member E1 124 endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(1)|prostate(1) 11 GTGCTCGCCCCTGAGCCTGAGG 0.614 19 25 --- --- --- --- ASL 435 broad.mit.edu 37 7 65554152 65554155 + Frame_Shift_Del DEL TGTT TGTT - TCGA-DU-7302-01A-11D-2086-08 TCGA-DU-7302-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda7efe2-081f-427a-b863-c894647a16cf 9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb g.chr7:65554152_65554155delTGTT ENST00000304874.9 + 12 1010_1013 c.908_911delTGTT c.(907-912)gtfs p.VF303fs ASL_ENST00000395331.3_Frame_Shift_Del_p.VF303fs|ASL_ENST00000395332.3_Frame_Shift_Del_p.VF303fs|AC068533.7_ENST00000450043.1_Frame_Shift_Del_p.CV71fs|ASL_ENST00000380839.4_Frame_Shift_Del_p.VF277fs NM_000048.3 NP_000039.2 P04424 ARLY_HUMAN argininosuccinate lyase 303 arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle cytosol argininosuccinate lyase activity breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1) 18 L-Arginine(DB00125) GCTGGGCGTGTGTTTGGGCGGGTG 0.672 10 88 --- --- --- --- GNAI1 2770 broad.mit.edu 37 7 79846804 79846805 + Frame_Shift_Del DEL TT TT - TCGA-DU-7302-01A-11D-2086-08 TCGA-DU-7302-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda7efe2-081f-427a-b863-c894647a16cf 9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb g.chr7:79846804_79846805delTT ENST00000351004.3 + 8 1433_1434 c.1060_1061delTT c.(1060-1062)tfs p.F354fs GNAI1_ENST00000457358.2_Frame_Shift_Del_p.F302fs NM_002069.5 NP_002060.4 P63096 GNAI1_HUMAN guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1 354 cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission centrosome|heterotrimeric G-protein complex|midbody|nucleus G-protein beta/gamma-subunit complex binding|GTP binding|metabotropic serotonin receptor binding|signal transducer activity NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 19 TTGTGGTCTCTTTTAAGTTTTG 0.342 13 28 --- --- --- --- CLU 1191 broad.mit.edu 37 8 27466456 27466459 + Splice_Site DEL TCTT TCTT - TCGA-DU-7302-01A-11D-2086-08 TCGA-DU-7302-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda7efe2-081f-427a-b863-c894647a16cf 9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb g.chr8:27466456_27466459delTCTT ENST00000316403.10 - 3 647_650 c.246_splice c.e3+1 p.KE81_splice CLU_ENST00000405140.3_Splice_Site_p.KE81_splice|CLU_ENST00000560366.1_Splice_Site_p.KE133_splice|CLU_ENST00000546343.1_Splice_Site_p.KE92_splice|CLU_ENST00000523500.1_Splice_Site_p.KE81_splice P10909 CLUS_HUMAN clusterin 81 chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle misfolded protein binding|ubiquitin protein ligase binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2) 21 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132) CCTCCTGACCTCTTTCTTCTTCTT 0.559 7 151 --- --- --- --- NOTCH1 4851 broad.mit.edu 37 9 139413070 139413072 + In_Frame_Del DEL AGA AGA - TCGA-DU-7302-01A-11D-2086-08 TCGA-DU-7302-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda7efe2-081f-427a-b863-c894647a16cf 9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb g.chr9:139413070_139413072delAGA ENST00000277541.6 - 6 1145_1147 c.1070_1072delTCT c.(1069-1074)tac>t p.FY357del NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 357 EGF-like 9; calcium-binding (Potential). aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity p.F357delF(4) breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) CACTCGCAGTAGAAGGAGGCCAC 0.655 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 10 20 --- --- --- --- KAT6B 23522 broad.mit.edu 37 10 76788369 76788370 + Frame_Shift_Del DEL AA AA - TCGA-DU-7302-01A-11D-2086-08 TCGA-DU-7302-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda7efe2-081f-427a-b863-c894647a16cf 9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb g.chr10:76788369_76788370delAA ENST00000287239.4 + 18 4276_4277 c.3787_3788delAA c.(3787-3789)afs p.K1263fs KAT6B_ENST00000372724.1_Frame_Shift_Del_p.K971fs|KAT6B_ENST00000372725.1_Frame_Shift_Del_p.K971fs|KAT6B_ENST00000372711.1_Frame_Shift_Del_p.K1080fs|KAT6B_ENST00000372714.1_Frame_Shift_Del_p.K971fs NM_001256468.1|NM_012330.3 NP_001243397.1|NP_036462.2 Q8WYB5 MYST4_HUMAN K(lysine) acetyltransferase 6B 1263 histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding GAGGCAAAACAAAGAGAGGAAG 0.460 7 79 --- --- --- --- ANO9 338440 broad.mit.edu 37 11 418481 418483 + In_Frame_Del DEL TCT TCT - TCGA-DU-7302-01A-11D-2086-08 TCGA-DU-7302-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda7efe2-081f-427a-b863-c894647a16cf 9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb g.chr11:418481_418483delTCT ENST00000332826.6 - 23 2321_2323 c.2237_2239delAGA c.(2236-2241)atg>a p.KM746del NM_001012302.2 NP_001012302.2 A1A5B4 ANO9_HUMAN anoctamin 9 746 chloride channel complex chloride channel activity central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4) 21 CCATGCCACATCTTCTCACGCAG 0.621 51 105 --- --- --- --- NDUFS3 4722 broad.mit.edu 37 11 47603920 47603922 + In_Frame_Del DEL TCT TCT - TCGA-DU-7302-01A-11D-2086-08 TCGA-DU-7302-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda7efe2-081f-427a-b863-c894647a16cf 9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb g.chr11:47603920_47603922delTCT ENST00000263774.4 + 6 609_611 c.527_529delTCT c.(526-531)gtc>g p.VF176del NDUFS3_ENST00000533507.1_3'UTR NM_004551.2 NP_004542.1 O75489 NDUS3_HUMAN NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase) 176 induction of apoptosis|mitochondrial electron transport, NADH to ubiquinone|negative regulation of cell growth|reactive oxygen species metabolic process|transport mitochondrial respiratory chain complex I electron carrier activity|NADH dehydrogenase (ubiquinone) activity|protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2) 9 NADH(DB00157) ATGTTTGGAGTCTTCTTTGCTAA 0.483 38 365 --- --- --- --- SNX32 254122 broad.mit.edu 37 11 65618541 65618543 + In_Frame_Del DEL TTT TTT - TCGA-DU-7302-01A-11D-2086-08 TCGA-DU-7302-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda7efe2-081f-427a-b863-c894647a16cf 9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb g.chr11:65618541_65618543delTTT ENST00000308342.6 + 7 1044_1046 c.619_621delTTT c.(619-621)del p.F207del NM_152760.2 NP_689973.2 Q86XE0 SNX32_HUMAN sorting nexin 32 207 cell communication|protein transport phosphatidylinositol binding endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 READ - Rectum adenocarcinoma(159;0.171) GGATGACTTCTTTGAGCATGAGA 0.596 14 228 --- --- --- --- CREBZF 58487 broad.mit.edu 37 11 85375242 85375244 + In_Frame_Del DEL CTT CTT - TCGA-DU-7302-01A-11D-2086-08 TCGA-DU-7302-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda7efe2-081f-427a-b863-c894647a16cf 9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb g.chr11:85375242_85375244delCTT ENST00000527447.1 - 1 902_904 c.676_678delAAG c.(676-678)del p.K226del CREBZF_ENST00000534224.1_Intron|CREBZF_ENST00000398294.2_In_Frame_Del_p.K144del|CREBZF_ENST00000531515.1_Intron NM_001039618.2 NP_001034707.1 Q9NS37 ZHANG_HUMAN CREB/ATF bZIP transcription factor 226 negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.K226delK(1) cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 9 Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033) TCACGTACTCCTTCTTCTTCAGT 0.665 OREG0021274 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 173 --- --- --- --- RBM7 10179 broad.mit.edu 37 11 114278270 114278273 + Frame_Shift_Del DEL TCAA TCAA - TCGA-DU-7302-01A-11D-2086-08 TCGA-DU-7302-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda7efe2-081f-427a-b863-c894647a16cf 9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb g.chr11:114278270_114278273delTCAA ENST00000540163.1 + 5 1184_1187 c.542_545delTCAA c.(541-546)ttfs p.FN181fs RP11-212D19.4_ENST00000544347.1_Intron|RBM7_ENST00000375490.5_Frame_Shift_Del_p.FN182fs|RBM7_ENST00000541475.1_3'UTR|RBM7_ENST00000545678.1_Frame_Shift_Del_p.FN61fs|RBM7_ENST00000544582.1_Intron Q9Y580 RBM7_HUMAN RNA binding motif protein 7 181 meiosis nucleotide binding|protein binding|RNA binding NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 17 all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104) BRCA - Breast invasive adenocarcinoma(274;2.56e-06)|Epithelial(105;4.17e-05)|all cancers(92;0.000348) AGTCATAGTTTCAATCAGTCTTCA 0.422 12 201 --- --- --- --- CIT 11113 broad.mit.edu 37 12 120151451 120151455 + Splice_Site DEL ATTCT ATTCT - TCGA-DU-7302-01A-11D-2086-08 TCGA-DU-7302-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda7efe2-081f-427a-b863-c894647a16cf 9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb g.chr12:120151451_120151455delATTCT ENST00000392521.2 - 34 4362_4364 c.4306_splice c.e34-1 p.D1436_splice MIR1178_ENST00000408396.1_RNA|CIT_ENST00000261833.7_Splice_Site_p.D1394_splice|CIT_ENST00000537607.1_5'UTR NM_001206999.1 NP_001193928.1 O14578 CTRO_HUMAN citron (rho-interacting, serine/threonine kinase 21) 1394 intracellular signal transduction ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 86 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(302;0.211) ATCACCTGACATTCTAGGGAAGAAC 0.610 9 99 --- --- --- --- LRCOL1 100507055 broad.mit.edu 37 12 133182784 133182786 + RNA DEL CAG CAG - TCGA-DU-7302-01A-11D-2086-08 TCGA-DU-7302-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda7efe2-081f-427a-b863-c894647a16cf 9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb g.chr12:133182784_133182786delCAG ENST00000545517.1 - 0 64_66 leucine rich colipase-like 1 CCATGGACCCcagcagcagcagc 0.650 3 6 --- --- --- --- METTL3 56339 broad.mit.edu 37 14 21971404 21971406 + In_Frame_Del DEL TTC TTC - TCGA-DU-7302-01A-11D-2086-08 TCGA-DU-7302-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda7efe2-081f-427a-b863-c894647a16cf 9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb g.chr14:21971404_21971406delTTC ENST00000298717.4 - 3 784_786 c.633_635delGAA c.(631-636)aaa>aa p.KK211del METTL3_ENST00000538267.1_In_Frame_Del_p.RN140del NM_019852.3 NP_062826.2 Q86U44 MTA70_HUMAN methyltransferase like 3 211 gene expression nuclear speck mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 20 all_cancers(95;0.000628) Epithelial(56;6.61e-06) GBM - Glioblastoma multiforme(265;0.0146) TTTCCTTGATTTCTTGGCTGGCT 0.502 34 229 --- --- --- --- GALC 2581 broad.mit.edu 37 14 88406276 88406276 + Frame_Shift_Del DEL T T - TCGA-DU-7302-01A-11D-2086-08 TCGA-DU-7302-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda7efe2-081f-427a-b863-c894647a16cf 9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb g.chr14:88406276delT ENST00000261304.2 - 16 1990 c.1884delA c.(1882-1884)aafs p.K628fs GALC_ENST00000544807.2_Frame_Shift_Del_p.K572fs|GALC_ENST00000393569.2_Frame_Shift_Del_p.K602fs|GALC_ENST00000393568.4_Frame_Shift_Del_p.K605fs NM_000153.3|NM_001201401.1 NP_000144.2|NP_001188330.1 P54803 GALC_HUMAN galactosylceramidase 628 carbohydrate metabolic process|galactosylceramide catabolic process lysosome cation binding|galactosylceramidase activity endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 GTGTATACCATTTTTTTGCTG 0.308 7 185 --- --- --- --- RP11-352D13.6 0 broad.mit.edu 37 15 69589411 69589411 + RNA DEL C C - rs56210952 by1000genomes TCGA-DU-7302-01A-11D-2086-08 TCGA-DU-7302-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda7efe2-081f-427a-b863-c894647a16cf 9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb g.chr15:69589411delC ENST00000563004.1 - 0 281 GGTCTAAGTACCCCCCTCCCC 0.537 2 4 --- --- --- --- CLUH 23277 broad.mit.edu 37 17 2601759 2601761 + In_Frame_Del DEL GAA GAA - TCGA-DU-7302-01A-11D-2086-08 TCGA-DU-7302-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda7efe2-081f-427a-b863-c894647a16cf 9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb g.chr17:2601759_2601761delGAA ENST00000570628.1 - 10 1381_1383 c.1276_1278delTTC c.(1276-1278)del p.F426del CLUH_ENST00000575014.1_In_Frame_Del_p.F358del|CLUH_ENST00000538975.1_In_Frame_Del_p.F426del|CLUH_ENST00000435359.1_In_Frame_Del_p.F426del clustered mitochondria (cluA/CLU1) homolog AGCCCAGGCTGAAGAAGATGTTG 0.611 11 48 --- --- --- --- VAT1 10493 broad.mit.edu 37 17 41168124 41168126 + In_Frame_Del DEL TTC TTC - TCGA-DU-7302-01A-11D-2086-08 TCGA-DU-7302-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda7efe2-081f-427a-b863-c894647a16cf 9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb g.chr17:41168124_41168126delTTC ENST00000355653.3 - 6 1229_1231 c.1134_1136delGAA c.(1132-1137)aat>aa p.KN378del VAT1_ENST00000587173.1_In_Frame_Del_p.KN310del|VAT1_ENST00000420567.3_In_Frame_Del_p.KN244del NM_006373.3 NP_006364.2 Q99536 VAT1_HUMAN vesicle amine transport 1 378 cytoplasm|integral to membrane oxidoreductase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1) 9 Breast(137;0.000717) BRCA - Breast invasive adenocarcinoma(366;0.156) CTTGCCCACATTCTTCTTCTCCT 0.557 40 474 --- --- --- --- SRSF2 6427 broad.mit.edu 37 17 74732390 74732395 + In_Frame_Del DEL GGACTT GGACTT - TCGA-DU-7302-01A-11D-2086-08 TCGA-DU-7302-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda7efe2-081f-427a-b863-c894647a16cf 9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb g.chr17:74732390_74732395delGGACTT ENST00000392485.2 - 2 686_691 c.514_519delAAGTCC c.(514-519)del p.KS172del MFSD11_ENST00000586622.1_5'UTR|SRSF2_ENST00000508921.3_In_Frame_Del_p.KS160del|SRSF2_ENST00000359995.5_In_Frame_Del_p.KS172del|MFSD11_ENST00000588460.1_5'UTR|RP11-318A15.7_ENST00000587459.1_Intron NM_003016.4 NP_003007.2 Q01130 SRSF2_HUMAN serine/arginine-rich splicing factor 2 172 Arg/Ser-rich (RS domain). mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nuclear speck nucleotide binding|protein binding|RNA binding|transcription corepressor activity haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2) 329 AGACCGACGAGGACTTGGACTTGGAC 0.617 Mis """MDS, CLL""" 17 104 --- --- --- --- ALPK2 115701 broad.mit.edu 37 18 56171248 56171252 + Frame_Shift_Del DEL TTCTC TTCTC - TCGA-DU-7302-01A-11D-2086-08 TCGA-DU-7302-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda7efe2-081f-427a-b863-c894647a16cf 9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb g.chr18:56171248_56171252delTTCTC ENST00000361673.3 - 11 6371_6375 c.6158_6162delGAGAA c.(6157-6162)afs p.RE2053fs NM_052947.3 NP_443179.3 Q86TB3 ALPK2_HUMAN alpha-kinase 2 2053 Alpha-type protein kinase. ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 CAGCTTCTGATTCTCTTCTCAAGAA 0.473 7 207 --- --- --- --- BRD4 23476 broad.mit.edu 37 19 15349706 15349708 + In_Frame_Del DEL GCT GCT - TCGA-DU-7302-01A-11D-2086-08 TCGA-DU-7302-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda7efe2-081f-427a-b863-c894647a16cf 9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb g.chr19:15349706_15349708delGCT ENST00000263377.2 - 19 4087_4089 c.3866_3868delAGC c.(3865-3870)cgc>c p.QR1289del NM_058243.2 NP_490597.1 O60885 BRD4_HUMAN bromodomain containing 4 1289 Poly-Gln. interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle condensed nuclear chromosome|cytoplasm protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18) tgctcctggcgctgctgctgctg 0.709 T C15orf55 lethal midline carcinoma of young people 3 4 --- --- --- --- CIC 23152 broad.mit.edu 37 19 42798099 42798100 + Frame_Shift_Del DEL AG AG - TCGA-DU-7302-01A-11D-2086-08 TCGA-DU-7302-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda7efe2-081f-427a-b863-c894647a16cf 9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb g.chr19:42798099_42798100delAG ENST00000572681.2 + 18 6839_6840 c.6771_6772delAG c.(6769-6774)tcaafs p.SE2257fs CIC_ENST00000160740.3_Frame_Shift_Del_p.SE1349fs|CIC_ENST00000575354.2_Frame_Shift_Del_p.SE1351fs Q96RK0 CIC_HUMAN capicua transcriptional repressor 1351 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) GGGTCCTGTCAGAAGTGGACTT 0.678 """Mis, F, S""" oligodendroglioma 64 73 --- --- --- --- NKX2-2 4821 broad.mit.edu 37 20 21492574 21492574 + Frame_Shift_Del DEL T T - TCGA-DU-7302-01A-11D-2086-08 TCGA-DU-7302-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda7efe2-081f-427a-b863-c894647a16cf 9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb g.chr20:21492574delT ENST00000377142.4 - 2 1165 c.809delA c.(808-810)cgfs p.Q270fs NKX2-2-AS1_ENST00000549659.1_RNA NM_002509.3 NP_002500.1 O95096 NKX22_HUMAN NK2 homeobox 2 270 brain development|positive regulation of sequence-specific DNA binding transcription factor activity nucleus chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 21 CCAAGTCCACTGCTGGGCCTG 0.706 34 37 --- --- --- --- RGS19 10287 broad.mit.edu 37 20 62705360 62705362 + In_Frame_Del DEL TTG TTG - TCGA-DU-7302-01A-11D-2086-08 TCGA-DU-7302-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda7efe2-081f-427a-b863-c894647a16cf 9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb g.chr20:62705360_62705362delTTG ENST00000395042.1 - 6 764_766 c.498_500delCAA c.(496-501)aag>aa p.NK166del RGS19_ENST00000332298.5_In_Frame_Del_p.NK166del NM_005873.2 NP_005864.1 P49795 RGS19_HUMAN regulator of G-protein signaling 19 166 RGS. autophagy|G-protein coupled receptor protein signaling pathway|negative regulation of signal transduction|small GTPase mediated signal transduction Golgi apparatus|membrane fraction|plasma membrane GTPase activator activity|protein binding|signal transducer activity lung(1)|prostate(1)|skin(1) 3 all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09) CTGCATCTTCTTGTTGATGCCCT 0.640 7 115 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11085531 11085533 + RNA DEL AAA AAA - TCGA-DU-7302-01A-11D-2086-08 TCGA-DU-7302-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda7efe2-081f-427a-b863-c894647a16cf 9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb g.chr21:11085531_11085533delAAA ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) caccaccactaaaaccacgacca 0.596 3 4 --- --- --- --- CNKSR2 22866 broad.mit.edu 37 X 21627678 21627680 + In_Frame_Del DEL GAG GAG - TCGA-DU-7302-01A-11D-2086-08 TCGA-DU-7302-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda7efe2-081f-427a-b863-c894647a16cf 9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb g.chrX:21627678_21627680delGAG ENST00000425654.2 + 19 3025_3027 c.2545_2547delGAG c.(2545-2547)del p.E856del CNKSR2_ENST00000279451.4_In_Frame_Del_p.E886del|CNKSR2_ENST00000379510.3_In_Frame_Del_p.E886del|CNKSR2_ENST00000543067.1_In_Frame_Del_p.E837del NM_001168647.1 NP_001162118.1 Q8WXI2 CNKR2_HUMAN connector enhancer of kinase suppressor of Ras 2 886 regulation of signal transduction cytoplasm|membrane protein binding breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3) 61 ggtggaggaagaggaggaggagg 0.517 7 73 --- --- --- --- BCOR 54880 broad.mit.edu 37 X 39932365 39932366 + Frame_Shift_Del DEL CT CT - TCGA-DU-7302-01A-11D-2086-08 TCGA-DU-7302-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx cda7efe2-081f-427a-b863-c894647a16cf 9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb g.chrX:39932365_39932366delCT ENST00000342274.4 - 4 2595_2596 c.2233_2234delAG c.(2233-2235)gfs p.R746fs BCOR_ENST00000378455.4_Frame_Shift_Del_p.R746fs|BCOR_ENST00000397354.3_Frame_Shift_Del_p.R746fs|BCOR_ENST00000378444.4_Frame_Shift_Del_p.R746fs NM_001123383.1 NP_001116855.1 Q6W2J9 BCOR_HUMAN BCL6 corepressor 746 heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent nucleus heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 126 CCGGGATCTCCTCTCTGGTTTC 0.515 """F, N, S, T""" RARA """retinoblastoma, AML, APL(translocation)""" oculo-facio-cardio-dental genetic 53 132 --- --- --- ---