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 ABLIM3 22885 broad.mit.edu 37 5 148617131 148617131 + Missense_Mutation SNP T T C TCGA-HW-A5KK-01A-11D-A27K-08 TCGA-HW-A5KK-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b22eb7-4e33-40b3-876c-70db5f2803d1 255ac70b-b68b-4384-be0e-057217146e1e g.chr5:148617131T>C ENST00000506113.1 + 10 1491 c.1009T>C c.(1009-1011)Tcc>Ccc p.S337P ABLIM3_ENST00000326685.7_Intron|ABLIM3_ENST00000309868.7_Missense_Mutation_p.S337P|RP11-331K21.1_ENST00000512647.2_RNA|AC012613.2_ENST00000523176.1_RNA|ABLIM3_ENST00000356541.3_Intron|ABLIM3_ENST00000508983.1_Missense_Mutation_p.S337P|ABLIM3_ENST00000519549.1_3'UTR|ABLIM3_ENST00000504238.1_Intron|RP11-331K21.1_ENST00000522685.1_RNA O94929 ABLM3_HUMAN actin binding LIM protein family, member 3 337 axon guidance|cytoskeleton organization cytoplasm actin binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAGATACATGTCCGACGAGAT 0.522000 23 108 0 0 1 0 0 EHD2 30846 broad.mit.edu 37 19 48229108 48229108 + Missense_Mutation SNP G G A TCGA-HW-A5KK-01A-11D-A27K-08 TCGA-HW-A5KK-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b22eb7-4e33-40b3-876c-70db5f2803d1 255ac70b-b68b-4384-be0e-057217146e1e g.chr19:48229108G>A ENST00000263277.3 + 4 793 c.542G>A c.(541-543)cGc>cAc p.R181H CTD-2571L23.8_ENST00000599924.1_lincRNA|EHD2_ENST00000538399.1_Missense_Mutation_p.R45H NM_014601.3 NP_055416.2 Q9NZN4 EHD2_HUMAN EH-domain containing 2 181 blood coagulation|endocytic recycling nucleus|plasma membrane|recycling endosome membrane ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 19 all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086) OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537) TTCGCGGAGCGCGTGGACCTC 0.637000 10 43 0 0 1 0 0 AMER3 205147 broad.mit.edu 37 2 131521800 131521800 + Nonsense_Mutation SNP C C T TCGA-HW-A5KK-01A-11D-A27K-08 TCGA-HW-A5KK-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b22eb7-4e33-40b3-876c-70db5f2803d1 255ac70b-b68b-4384-be0e-057217146e1e g.chr2:131521800C>T ENST00000423981.1 + 2 2265 c.2155C>T c.(2155-2157)Cag>Tag p.Q719* AMER3_ENST00000321420.4_Nonsense_Mutation_p.Q719* NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2 NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2 APC membrane recruitment protein 3 CATGCTGGAGCAGAAACAGTC 0.632000 12 42 0 0 1 0 0 PKHD1 5314 broad.mit.edu 37 6 51897876 51897876 + Missense_Mutation SNP A A T TCGA-HW-A5KK-01A-11D-A27K-08 TCGA-HW-A5KK-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b22eb7-4e33-40b3-876c-70db5f2803d1 255ac70b-b68b-4384-be0e-057217146e1e g.chr6:51897876A>T ENST00000371117.3 - 29 3591 c.3316T>A c.(3316-3318)Tta>Ata p.L1106I PKHD1_ENST00000340994.4_Missense_Mutation_p.L1106I NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 1106 cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) ACTGGATTTAAGGAAGAGACA 0.383000 6 55 0 0 1 0 0 FHOD1 29109 broad.mit.edu 37 16 67268290 67268290 + Missense_Mutation SNP C C T TCGA-HW-A5KK-01A-11D-A27K-08 TCGA-HW-A5KK-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b22eb7-4e33-40b3-876c-70db5f2803d1 255ac70b-b68b-4384-be0e-057217146e1e g.chr16:67268290C>T ENST00000258201.4 - 12 1652 c.1405G>A c.(1405-1407)Gcc>Acc p.A469T FHOD1_ENST00000567687.1_Missense_Mutation_p.A48T NM_013241.2 NP_037373.2 Q9Y613 FHOD1_HUMAN formin homology 2 domain containing 1 469 actin cytoskeleton organization cytoplasm|cytoskeleton|nucleus actin binding breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 34 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434) TTGGGCATGGCCCCGGCAAGT 0.642000 3 31 0 0 1 0 0 ZNF426 79088 broad.mit.edu 37 19 9646905 9646905 + Missense_Mutation SNP C C T TCGA-HW-A5KK-01A-11D-A27K-08 TCGA-HW-A5KK-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b22eb7-4e33-40b3-876c-70db5f2803d1 255ac70b-b68b-4384-be0e-057217146e1e g.chr19:9646905C>T ENST00000535489.1 - 1 340 c.4G>A c.(4-6)Gca>Aca p.A2T ZNF426_ENST00000593003.1_5'UTR|ZNF426_ENST00000589289.1_Missense_Mutation_p.A2T|ZNF426_ENST00000253115.2_Missense_Mutation_p.A2T Q9BUY5 ZN426_HUMAN zinc finger protein 426 2 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 20 TCAGCAGCTGCCATCCCGCGA 0.463000 10 66 0 0 1 0 0 PGAP1 80055 broad.mit.edu 37 2 197708797 197708797 + Silent SNP A A G TCGA-HW-A5KK-01A-11D-A27K-08 TCGA-HW-A5KK-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b22eb7-4e33-40b3-876c-70db5f2803d1 255ac70b-b68b-4384-be0e-057217146e1e g.chr2:197708797A>G ENST00000354764.3 - 25 2454 c.2340T>C c.(2338-2340)aaT>aaC p.N780N NM_024989.3 NP_079265.2 Q75T13 PGAP1_HUMAN post-GPI attachment to proteins 1 780 attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport integral to membrane|intrinsic to endoplasmic reticulum membrane nuclease activity|phosphoric ester hydrolase activity breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1) 40 AGTGTTTGGGATTCTATAAAA 0.303000 4 21 0 0 1 0 0 ZNF521 25925 broad.mit.edu 37 18 22805969 22805969 + Missense_Mutation SNP T T G TCGA-HW-A5KK-01A-11D-A27K-08 TCGA-HW-A5KK-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b22eb7-4e33-40b3-876c-70db5f2803d1 255ac70b-b68b-4384-be0e-057217146e1e g.chr18:22805969T>G ENST00000361524.3 - 4 2061 c.1913A>C c.(1912-1914)cAa>cCa p.Q638P ZNF521_ENST00000584787.1_Missense_Mutation_p.Q418P|ZNF521_ENST00000538137.2_Missense_Mutation_p.Q638P NM_015461.2 NP_056276.1 Q96K83 ZN521_HUMAN zinc finger protein 521 638 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 149 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) AGCACCACATTGATTACAGAT 0.478000 T PAX5 ALL 23 136 0 0 1 0 0 FN1 2335 broad.mit.edu 37 2 216288193 216288193 + Missense_Mutation SNP G G C TCGA-HW-A5KK-01A-11D-A27K-08 TCGA-HW-A5KK-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b22eb7-4e33-40b3-876c-70db5f2803d1 255ac70b-b68b-4384-be0e-057217146e1e g.chr2:216288193G>C ENST00000354785.4 - 9 1642 c.1273C>G c.(1273-1275)Cta>Gta p.L425V FN1_ENST00000359671.1_Missense_Mutation_p.L425V|FN1_ENST00000357867.4_Missense_Mutation_p.L425V|FN1_ENST00000346544.3_Missense_Mutation_p.L425V|FN1_ENST00000357009.2_Missense_Mutation_p.L425V|FN1_ENST00000356005.4_Missense_Mutation_p.L425V|FN1_ENST00000345488.5_Missense_Mutation_p.L425V|FN1_ENST00000323926.6_Missense_Mutation_p.L425V|FN1_ENST00000336916.4_Missense_Mutation_p.L425V|FN1_ENST00000446046.1_Missense_Mutation_p.L425V|FN1_ENST00000426059.1_Missense_Mutation_p.L425V|FN1_ENST00000443816.1_Missense_Mutation_p.L425V|FN1_ENST00000432072.2_Missense_Mutation_p.L425V|FN1_ENST00000421182.1_Missense_Mutation_p.L425V P02751 FINC_HUMAN fibronectin 1 425 Collagen-binding.|Fibronectin type-II 2. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding FN1/ALK(2) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 109 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TTGTTGTATAGGAAGGGGAAG 0.463000 6 54 0 0 1 0 0 DNAJB14 79982 broad.mit.edu 37 4 100822294 100822294 + Missense_Mutation SNP T T C TCGA-HW-A5KK-01A-11D-A27K-08 TCGA-HW-A5KK-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b22eb7-4e33-40b3-876c-70db5f2803d1 255ac70b-b68b-4384-be0e-057217146e1e g.chr4:100822294T>C ENST00000442697.2 - 8 1185 c.1031A>G c.(1030-1032)tAt>tGt p.Y344C NM_001031723.2|NM_001278310.1 NP_001026893.1|NP_001265239.1 Q8TBM8 DJB14_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 14 344 protein folding integral to membrane heat shock protein binding|unfolded protein binding kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1) 5 OV - Ovarian serous cystadenocarcinoma(123;4.59e-09) TTTTGCTGCATACTGCATATC 0.373000 7 53 0 0 1 0 0 MAP7 9053 broad.mit.edu 37 6 136710581 136710581 + Nonsense_Mutation SNP T T A TCGA-HW-A5KK-01A-11D-A27K-08 TCGA-HW-A5KK-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b22eb7-4e33-40b3-876c-70db5f2803d1 255ac70b-b68b-4384-be0e-057217146e1e g.chr6:136710581T>A ENST00000354570.3 - 4 729 c.319A>T c.(319-321)Aag>Tag p.K107* MAP7_ENST00000432797.2_5'UTR|MAP7_ENST00000544465.1_Nonsense_Mutation_p.K92*|MAP7_ENST00000454590.1_Nonsense_Mutation_p.K129*|MAP7_ENST00000438100.2_Nonsense_Mutation_p.K129* NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4 NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1 Q14244 MAP7_HUMAN microtubule-associated protein 7 107 establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm receptor binding|structural molecule activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643) AACCTCTTCTTCCGCTCTTCC 0.542000 22 128 0 0 1 0 0 TCP10 6953 broad.mit.edu 37 6 167786722 167786722 + Missense_Mutation SNP C C T TCGA-HW-A5KK-01A-11D-A27K-08 TCGA-HW-A5KK-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b22eb7-4e33-40b3-876c-70db5f2803d1 255ac70b-b68b-4384-be0e-057217146e1e g.chr6:167786722C>T ENST00000397829.4 - 8 1083 c.916G>A c.(916-918)Ggt>Agt p.G306S TCP10_ENST00000366827.2_Intron NM_004610.3 NP_004601.3 Q12799 TCP10_HUMAN t-complex 10 333 cytosol NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6) 18 Breast(66;1.53e-05)|Ovarian(120;0.024) OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386) CTCGGGAAACCGGACCGCCGG 0.557000 6 69 0 0 1 0 0 CELSR3 1951 broad.mit.edu 37 3 48678778 48678778 + Missense_Mutation SNP G G A TCGA-HW-A5KK-01A-11D-A27K-08 TCGA-HW-A5KK-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b22eb7-4e33-40b3-876c-70db5f2803d1 255ac70b-b68b-4384-be0e-057217146e1e g.chr3:48678778G>A ENST00000544264.1 - 34 9299 c.9019C>T c.(9019-9021)Cgg>Tgg p.R3007W CELSR3_ENST00000164024.4_Missense_Mutation_p.R3002W Q9NYQ7 CELR3_HUMAN cadherin, EGF LAG seven-pass G-type receptor 3 3002 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) CGCTGGGCCCGGCCCAGAGAA 0.652000 23 110 0 0 1 0 0 SLC24A2 25769 broad.mit.edu 37 9 19786146 19786146 + Missense_Mutation SNP C C G TCGA-HW-A5KK-01A-11D-A27K-08 TCGA-HW-A5KK-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b22eb7-4e33-40b3-876c-70db5f2803d1 255ac70b-b68b-4384-be0e-057217146e1e g.chr9:19786146C>G ENST00000341998.2 - 1 780 c.719G>C c.(718-720)cGa>cCa p.R240P SLC24A2_ENST00000286344.3_Missense_Mutation_p.R240P NM_001193288.2|NM_020344.3 NP_001180217.1|NP_065077.1 Q9UI40 NCKX2_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 2 240 visual perception integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 33 GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443) AGACACATCTCGAAAGAGCGG 0.393000 10 82 0 0 1 0 0 SLC13A2 9058 broad.mit.edu 37 17 26817446 26817446 + Missense_Mutation SNP C C T TCGA-HW-A5KK-01A-11D-A27K-08 TCGA-HW-A5KK-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b22eb7-4e33-40b3-876c-70db5f2803d1 255ac70b-b68b-4384-be0e-057217146e1e g.chr17:26817446C>T ENST00000444914.3 + 3 773 c.353C>T c.(352-354)cCg>cTg p.P118L SLC13A2_ENST00000314669.5_Intron|SLC13A2_ENST00000545060.1_Intron|SLC13A2_ENST00000537681.1_Intron NM_001145975.1 NP_001139447.1 Q13183 S13A2_HUMAN solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 69 integral to plasma membrane|membrane fraction low affinity sodium:dicarboxylate symporter activity breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 all_lung(13;0.000871)|Lung NSC(42;0.0027) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) Succinic acid(DB00139) GTCTTCCCGCCGCTCAGCCAT 0.612000 36 194 0 0 1 0 0 PRB3 5544 broad.mit.edu 37 12 11420209 11420209 + RNA SNP G G A TCGA-HW-A5KK-01A-11D-A27K-08 TCGA-HW-A5KK-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b22eb7-4e33-40b3-876c-70db5f2803d1 255ac70b-b68b-4384-be0e-057217146e1e g.chr12:11420209G>A ENST00000381842.3 - 0 884 PRB3_ENST00000440870.3_RNA|PRB3_ENST00000538488.1_RNA|PRB3_ENST00000279573.6_RNA NM_006249.4 NP_006240.4 Q04118 PRB3_HUMAN proline-rich protein BstNI subfamily 3 extracellular region Gram-negative bacterial cell surface binding breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5) 25 OV - Ovarian serous cystadenocarcinoma(49;0.201) TTTCCAGCGGGAGGTGGCAGA 0.622000 36 208 0 0 1 0 0 ZNRD1-AS1 0 broad.mit.edu 37 6 29977359 29977359 + RNA SNP G G A rs3831361 by1000genomes TCGA-HW-A5KK-01A-11D-A27K-08 TCGA-HW-A5KK-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b22eb7-4e33-40b3-876c-70db5f2803d1 255ac70b-b68b-4384-be0e-057217146e1e g.chr6:29977359G>A ENST00000376797.3 - 0 731 ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|HLA-J_ENST00000462773.1_RNA ATTTGTTCATGCCTTCCCTTT 0.453000 4 55 0 0 1 0 0 ADAMTS15 170689 broad.mit.edu 37 11 130332501 130332501 + Silent SNP C C T TCGA-HW-A5KK-01A-11D-A27K-08 TCGA-HW-A5KK-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b22eb7-4e33-40b3-876c-70db5f2803d1 255ac70b-b68b-4384-be0e-057217146e1e g.chr11:130332501C>T ENST00000299164.2 + 4 1368 c.1368C>T c.(1366-1368)tcC>tcT p.S456S NM_139055.2 NP_620686.1 Q8TE58 ATS15_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 15 456 Disintegrin. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1) 36 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215) GCGTGGGCTCCAAGCCCTGTC 0.647000 17 121 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228430986 228430986 + Missense_Mutation SNP C C T TCGA-HW-A5KK-01A-11D-A27K-08 TCGA-HW-A5KK-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b22eb7-4e33-40b3-876c-70db5f2803d1 255ac70b-b68b-4384-be0e-057217146e1e g.chr1:228430986C>T ENST00000570156.2 + 11 3382 c.3308C>T c.(3307-3309)aCg>aTg p.T1103M OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.T1011M|OBSCN_ENST00000422127.1_Missense_Mutation_p.T1011M NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 38 Ig-like 11. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) CAGGCCCAGACGGAGGTGATG 0.622000 7 55 0 0 1 0 0 SPTB 6710 broad.mit.edu 37 14 65239642 65239642 + Missense_Mutation SNP G G A rs149727354 TCGA-HW-A5KK-01A-11D-A27K-08 TCGA-HW-A5KK-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b22eb7-4e33-40b3-876c-70db5f2803d1 255ac70b-b68b-4384-be0e-057217146e1e g.chr14:65239642G>A ENST00000389722.3 - 25 5262 c.5209C>T c.(5209-5211)Cgg>Tgg p.R1737W SPTB_ENST00000542895.1_Missense_Mutation_p.R1737W|SPTB_ENST00000389721.5_Missense_Mutation_p.R1737W|SPTB_ENST00000389720.3_Missense_Mutation_p.R1737W|SPTB_ENST00000556626.1_Missense_Mutation_p.R1737W NM_001024858.2 NP_001020029.1 P11277 SPTB1_HUMAN spectrin, beta, erythrocytic 1737 actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3) 106 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) CCGGTCTCCCGGGCAAAGTCC 0.622000 5 42 0 0 1 0 0 MGAT4C 25834 broad.mit.edu 37 12 86374059 86374059 + Missense_Mutation SNP G G A TCGA-HW-A5KK-01A-11D-A27K-08 TCGA-HW-A5KK-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b22eb7-4e33-40b3-876c-70db5f2803d1 255ac70b-b68b-4384-be0e-057217146e1e g.chr12:86374059G>A ENST00000604798.1 - 8 1649 c.445C>T c.(445-447)Cgt>Tgt p.R149C MGAT4C_ENST00000393205.2_Missense_Mutation_p.R178C|MGAT4C_ENST00000332156.1_Missense_Mutation_p.R149C|MGAT4C_ENST00000549405.2_Missense_Mutation_p.R149C|MGAT4C_ENST00000552435.2_Intron|MGAT4C_ENST00000552808.2_Missense_Mutation_p.R149C|MGAT4C_ENST00000548651.1_Missense_Mutation_p.R149C Q9UBM8 MGT4C_HUMAN mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative) 149 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 ATGGCATCACGCCAGGAAGAA 0.398000 12 72 0 0 1 0 0 AJ271736.10 0 broad.mit.edu 37 X 155255043 155255043 + RNA SNP G G A TCGA-HW-A5KK-01A-11D-A27K-08 TCGA-HW-A5KK-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b22eb7-4e33-40b3-876c-70db5f2803d1 255ac70b-b68b-4384-be0e-057217146e1e g.chrX:155255043G>A ENST00000285718.7 + 0 1348 WASH6P_ENST00000461007.1_RNA ATCCTAGGGGGCTCCATGACA 0.642000 4 32 0 0 1 0 0 KIAA0754 643314 broad.mit.edu 37 1 39876726 39876726 + Silent SNP A A G TCGA-HW-A5KK-01A-11D-A27K-08 TCGA-HW-A5KK-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b22eb7-4e33-40b3-876c-70db5f2803d1 255ac70b-b68b-4384-be0e-057217146e1e g.chr1:39876726A>G ENST00000530275.1 + 1 576 c.381A>G c.(379-381)acA>acG p.T127T MACF1_ENST00000567887.1_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000372915.3_Intron NM_015038.1 NP_055853.1 O94854 K0754_HUMAN KIAA0754 127 central_nervous_system(1)|large_intestine(6)|skin(1) 8 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) CGAGGGCCACAAAAAGTTTAG 0.512000 OREG0013393 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 29 0 0 1 0 0 YTHDF1 54915 broad.mit.edu 37 20 61833842 61833842 + Missense_Mutation SNP C C T TCGA-HW-A5KK-01A-11D-A27K-08 TCGA-HW-A5KK-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b22eb7-4e33-40b3-876c-70db5f2803d1 255ac70b-b68b-4384-be0e-057217146e1e g.chr20:61833842C>T ENST00000370339.3 - 4 1791 c.1450G>A c.(1450-1452)Gta>Ata p.V484I YTHDF1_ENST00000370333.4_Missense_Mutation_p.V434I|YTHDF1_ENST00000370334.4_Intron NM_017798.3 NP_060268.2 Q9BYJ9 YTHD1_HUMAN YTH domain family, member 1 484 YTH. NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2) 24 TTATTGGGTACATCCTTAACA 0.537000 15 81 0 0 1 0 0 GLE1 2733 broad.mit.edu 37 9 131298722 131298722 + Missense_Mutation SNP G G A TCGA-HW-A5KK-01A-11D-A27K-08 TCGA-HW-A5KK-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b22eb7-4e33-40b3-876c-70db5f2803d1 255ac70b-b68b-4384-be0e-057217146e1e g.chr9:131298722G>A ENST00000309971.4 + 12 1841 c.1735G>A c.(1735-1737)Gct>Act p.A579T GLE1_ENST00000539582.1_Missense_Mutation_p.A325T|GLE1_ENST00000372770.4_Missense_Mutation_p.A579T|RP11-216B9.6_ENST00000434999.1_RNA NM_001003722.1 NP_001003722.1 Q53GS7 GLE1_HUMAN GLE1 RNA export mediator 579 poly(A)+ mRNA export from nucleus|protein transport|transmembrane transport cytoplasm|nuclear pore protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|skin(2)|upper_aerodigestive_tract(1) 16 TCTCTACGCTGCTATCATCCA 0.468000 4 55 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152651648 152651648 + Silent SNP C C T TCGA-HW-A5KK-01A-11D-A27K-08 TCGA-HW-A5KK-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b22eb7-4e33-40b3-876c-70db5f2803d1 255ac70b-b68b-4384-be0e-057217146e1e g.chr6:152651648C>T ENST00000367255.5 - 78 14773 c.14172G>A c.(14170-14172)gcG>gcA p.A4724A SYNE1_ENST00000423061.1_Silent_p.A4653A|SYNE1_ENST00000265368.4_Silent_p.A4724A|SYNE1_ENST00000448038.1_Silent_p.A4653A|SYNE1_ENST00000341594.5_Silent_p.A4471A NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 4724 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CCCCAAGGCCCGCCACCTCGT 0.552000 HNSCC(10;0.0054) 10 57 0 0 1 0 0 EXTL1 2134 broad.mit.edu 37 1 26360306 26360306 + Silent SNP C C T rs137944707 byFrequency TCGA-HW-A5KK-01A-11D-A27K-08 TCGA-HW-A5KK-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b22eb7-4e33-40b3-876c-70db5f2803d1 255ac70b-b68b-4384-be0e-057217146e1e g.chr1:26360306C>T ENST00000374280.3 + 9 2505 c.1638C>T c.(1636-1638)aaC>aaT p.N546N NM_004455.2 NP_004446.2 Q92935 EXTL1_HUMAN exostosin-like glycosyltransferase 1 546 skeletal system development integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1) 23 Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649) AGAGGACCAACGAATTCTCCA 0.597000 17 78 0 0 1 0 0 ATP10B 23120 broad.mit.edu 37 5 160049524 160049524 + Silent SNP G G T TCGA-HW-A5KK-01A-11D-A27K-08 TCGA-HW-A5KK-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b22eb7-4e33-40b3-876c-70db5f2803d1 255ac70b-b68b-4384-be0e-057217146e1e g.chr5:160049524G>T ENST00000327245.5 - 14 2535 c.1689C>A c.(1687-1689)acC>acA p.T563T CTC-348L5.1_ENST00000523598.1_RNA NM_025153.2 NP_079429.2 O94823 AT10B_HUMAN ATPase, class V, type 10B 563 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1) 75 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TGTCTGACAAGGTCTCCAACC 0.488000 17 78 1.02788e-11 1.11214e-11 1 1 0 OR11H12 440153 broad.mit.edu 37 14 19378084 19378084 + Missense_Mutation SNP G G T TCGA-HW-A5KK-01A-11D-A27K-08 TCGA-HW-A5KK-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b22eb7-4e33-40b3-876c-70db5f2803d1 255ac70b-b68b-4384-be0e-057217146e1e g.chr14:19378084G>T ENST00000550708.1 + 1 563 c.491G>T c.(490-492)tGg>tTg p.W164L NM_001013354.1|NM_001197287.1 NP_001013372.1|NP_001184216.1 B2RN74 O11HC_HUMAN olfactory receptor, family 11, subfamily H, member 12 164 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) ATACTGTGCTGGGTTTGTGGA 0.488000 9 580 0.00621372 0.00640789 1 1 0 NAV2 89797 broad.mit.edu 37 11 19970369 19970369 + Silent SNP C C T TCGA-HW-A5KK-01A-11D-A27K-08 TCGA-HW-A5KK-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b22eb7-4e33-40b3-876c-70db5f2803d1 255ac70b-b68b-4384-be0e-057217146e1e g.chr11:19970369C>T ENST00000396085.1 + 10 2749 c.2388C>T c.(2386-2388)gaC>gaT p.D796D NAV2_ENST00000349880.4_Silent_p.D796D|NAV2_ENST00000396087.3_Silent_p.D819D|NAV2_ENST00000540292.1_Silent_p.D750D|NAV2_ENST00000360655.4_Silent_p.D732D|NAV2_ENST00000527559.2_Silent_p.D748D NM_182964.5 NP_892009.3 Q8IVL1 NAV2_HUMAN neuron navigator 2 819 nucleus ATP binding|helicase activity p.D819D(1) NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 116 AAGCAGGAGACGCCCCCTCAA 0.617000 11 73 0 0 1 0 0 CACNA1E 777 broad.mit.edu 37 1 181724388 181724388 + Missense_Mutation SNP G G A TCGA-HW-A5KK-01A-11D-A27K-08 TCGA-HW-A5KK-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b22eb7-4e33-40b3-876c-70db5f2803d1 255ac70b-b68b-4384-be0e-057217146e1e g.chr1:181724388G>A ENST00000526775.1 + 27 3952 c.3787G>A c.(3787-3789)Gta>Ata p.V1263I CACNA1E_ENST00000367567.4_Missense_Mutation_p.V889I|CACNA1E_ENST00000367570.1_Missense_Mutation_p.V1282I|CACNA1E_ENST00000358338.5_Missense_Mutation_p.V1214I|CACNA1E_ENST00000360108.3_Missense_Mutation_p.V1263I|CACNA1E_ENST00000357570.5_Missense_Mutation_p.V1233I|CACNA1E_ENST00000367573.2_Missense_Mutation_p.V1282I NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 1282 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 CTTCGACTGCGTAGTGACCTC 0.502000 13 62 0 0 1 0 0 LRRC37B 114659 broad.mit.edu 37 17 30349672 30349672 + Missense_Mutation SNP G G A TCGA-HW-A5KK-01A-11D-A27K-08 TCGA-HW-A5KK-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b22eb7-4e33-40b3-876c-70db5f2803d1 255ac70b-b68b-4384-be0e-057217146e1e g.chr17:30349672G>A ENST00000327564.7 + 1 1649 c.1588G>A c.(1588-1590)Gtg>Atg p.V530M LRRC37B_ENST00000581786.1_3'UTR|LRRC37B_ENST00000584368.1_Missense_Mutation_p.V515M|LRRC37B_ENST00000394713.3_Missense_Mutation_p.V503M|LRRC37B_ENST00000543378.2_Missense_Mutation_p.V421M|LRRC37B_ENST00000341671.7_Missense_Mutation_p.V503M Q96QE4 LR37B_HUMAN leucine rich repeat containing 37B 503 integral to membrane endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 29 Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244) GGATTCATTGGTGCAGTCTGA 0.507000 23 111 0 0 1 0 0 VDAC3 7419 broad.mit.edu 37 8 42259491 42259491 + Missense_Mutation SNP C C T TCGA-HW-A5KK-01A-11D-A27K-08 TCGA-HW-A5KK-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b22eb7-4e33-40b3-876c-70db5f2803d1 255ac70b-b68b-4384-be0e-057217146e1e g.chr8:42259491C>T ENST00000392935.3 + 7 655 c.512C>T c.(511-513)gCc>gTc p.A171V VDAC3_ENST00000521158.1_Missense_Mutation_p.A171V|VDAC3_ENST00000522572.1_Intron|VDAC3_ENST00000022615.4_Missense_Mutation_p.A170V NM_001135694.2|NM_005662.6 NP_001129166.1|NP_005653.3 Q9Y277 VDAC3_HUMAN voltage-dependent anion channel 3 170 adenine transport mitochondrial outer membrane|pore complex nucleotide binding|porin activity|protein binding|voltage-gated anion channel activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1) 7 all_cancers(6;3.86e-23)|all_lung(13;6.47e-12)|Lung NSC(13;1.08e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Lung SC(25;0.211) all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151) BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00266)|Lung(22;0.00849)|LUSC - Lung squamous cell carcinoma(45;0.024) Dihydroxyaluminium(DB01375) AATAATTTCGCCCTGGGTTAC 0.463000 8 55 0 0 1 0 0 GSDMD 79792 broad.mit.edu 37 8 144642132 144642132 + Missense_Mutation SNP C C T TCGA-HW-A5KK-01A-11D-A27K-08 TCGA-HW-A5KK-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b22eb7-4e33-40b3-876c-70db5f2803d1 255ac70b-b68b-4384-be0e-057217146e1e g.chr8:144642132C>T ENST00000526406.1 + 6 1286 c.403C>T c.(403-405)Cat>Tat p.H135Y GSDMD_ENST00000533063.1_Missense_Mutation_p.H183Y|GSDMD_ENST00000262580.4_Missense_Mutation_p.H135Y NM_001166237.1 NP_001159709.1 P57764 GSDMD_HUMAN gasdermin D 135 breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 12 GACTCTGCTCCATGAGAGGTG 0.537000 8 50 0 0 1 0 0 RRN3P2 0 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-HW-A5KK-01A-11D-A27K-08 TCGA-HW-A5KK-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b22eb7-4e33-40b3-876c-70db5f2803d1 255ac70b-b68b-4384-be0e-057217146e1e g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 3 48 0 0 1 0 0 SPRYD3 84926 broad.mit.edu 37 12 53468957 53468957 + Missense_Mutation SNP A A C TCGA-HW-A5KK-01A-11D-A27K-08 TCGA-HW-A5KK-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b22eb7-4e33-40b3-876c-70db5f2803d1 255ac70b-b68b-4384-be0e-057217146e1e g.chr12:53468957A>C ENST00000301463.4 - 4 379 c.293T>G c.(292-294)cTg>cGg p.L98R SPRYD3_ENST00000547837.1_Missense_Mutation_p.L135R NM_032840.2 NP_116229.1 Q8NCJ5 SPRY3_HUMAN SPRY domain containing 3 98 B30.2/SPRY. central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 CTGAGGGACCAGCCCCACAGC 0.562000 27 167 0 0 1 0 0 COPB2 9276 broad.mit.edu 37 3 139085462 139085462 + Missense_Mutation SNP G G A TCGA-HW-A5KK-01A-11D-A27K-08 TCGA-HW-A5KK-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b22eb7-4e33-40b3-876c-70db5f2803d1 255ac70b-b68b-4384-be0e-057217146e1e g.chr3:139085462G>A ENST00000333188.5 - 15 2013 c.1832C>T c.(1831-1833)cCt>cTt p.P611L COPB2_ENST00000507777.1_Missense_Mutation_p.P582L NM_004766.2 NP_004757.1 P35606 COPB2_HUMAN coatomer protein complex, subunit beta 2 (beta prime) 611 COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol protein binding|structural molecule activity breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 24 TGGAATGGTAGGAAGGACCTT 0.398000 9 43 0 0 1 0 0 TRIM51HP 0 broad.mit.edu 37 11 55065601 55065601 + RNA SNP C C G rs4100282 TCGA-HW-A5KK-01A-11D-A27K-08 TCGA-HW-A5KK-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b22eb7-4e33-40b3-876c-70db5f2803d1 255ac70b-b68b-4384-be0e-057217146e1e g.chr11:55065601C>G ENST00000526016.1 - 0 107 NR_038174.2 CACTGAGCAACAACTGCCATG 0.488000 6 52 0 0 1 0 0 POM121L12 285877 broad.mit.edu 37 7 53103839 53103839 + Missense_Mutation SNP C C T TCGA-HW-A5KK-01A-11D-A27K-08 TCGA-HW-A5KK-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b22eb7-4e33-40b3-876c-70db5f2803d1 255ac70b-b68b-4384-be0e-057217146e1e g.chr7:53103839C>T ENST00000408890.4 + 1 491 c.475C>T c.(475-477)Cgc>Tgc p.R159C NM_182595.3 NP_872401.3 Q8N7R1 P1L12_HUMAN POM121 transmembrane nucleoporin-like 12 159 endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 ACAGAGAgcccgccccgcagg 0.721000 10 45 0 0 1 0 0 SERPINB2 5055 broad.mit.edu 37 18 61569789 61569789 + Missense_Mutation SNP C C G TCGA-HW-A5KK-01A-11D-A27K-08 TCGA-HW-A5KK-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b22eb7-4e33-40b3-876c-70db5f2803d1 255ac70b-b68b-4384-be0e-057217146e1e g.chr18:61569789C>G ENST00000457692.1 + 8 1163 c.830C>G c.(829-831)aCt>aGt p.T277S SERPINB2_ENST00000299502.4_Missense_Mutation_p.T277S NM_001143818.1 NP_001137290.1 P05120 PAI2_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 2 277 anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis extracellular space|Golgi apparatus|plasma membrane serine-type endopeptidase inhibitor activity NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1) 32 Esophageal squamous(42;0.131) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013) GATGTGTCCACTGGCTTGGAG 0.418000 9 118 0 0 1 0 0 VAMP5 10791 broad.mit.edu 37 2 85818866 85818866 + Missense_Mutation SNP C C T TCGA-HW-A5KK-01A-11D-A27K-08 TCGA-HW-A5KK-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b22eb7-4e33-40b3-876c-70db5f2803d1 255ac70b-b68b-4384-be0e-057217146e1e g.chr2:85818866C>T ENST00000306384.4 + 2 105 c.22C>T c.(22-24)Cgg>Tgg p.R8W NM_006634.2 NP_006625.1 O95183 VAMP5_HUMAN vesicle-associated membrane protein 5 8 v-SNARE coiled-coil homology. cell differentiation|vesicle-mediated transport endomembrane system p.R8W(1) NS(1)|large_intestine(3)|lung(1) 5 AGAGTTGGAGCGGTGCCAGCA 0.602000 19 98 0 0 1 0 0 CDK13 8621 broad.mit.edu 37 7 40102644 40102644 + Missense_Mutation SNP A A G TCGA-HW-A5KK-01A-11D-A27K-08 TCGA-HW-A5KK-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b22eb7-4e33-40b3-876c-70db5f2803d1 255ac70b-b68b-4384-be0e-057217146e1e g.chr7:40102644A>G ENST00000181839.4 + 9 3330 c.2725A>G c.(2725-2727)Act>Gct p.T909A CDK13_ENST00000484589.1_3'UTR|CDK13_ENST00000340829.5_Missense_Mutation_p.T909A NM_003718.4|NM_031267.3 NP_003709.3|NP_112557.2 Q14004 CDK13_HUMAN cyclin-dependent kinase 13 909 Protein kinase. alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1) 49 CGAACTCTTCACTAAAAAACC 0.333000 14 66 0 0 1 0 0 RARB 5915 broad.mit.edu 37 3 25470378 25470378 + Splice_Site SNP A A G TCGA-HW-A5KK-01A-11D-A27K-08 TCGA-HW-A5KK-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b22eb7-4e33-40b3-876c-70db5f2803d1 255ac70b-b68b-4384-be0e-057217146e1e g.chr3:25470378A>G ENST00000330688.4 + 1 577 c.157_splice c.e1+1 p.Q52_splice RARB_ENST00000462272.1_3'UTR|RARB_ENST00000404969.1_Intron|RARB_ENST00000437042.2_Intron NM_000965.3 NP_000956.2 P10826 RARB_HUMAN retinoic acid receptor, beta 0 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) ACACTGCTCAATGTAGGTTTA 0.433000 6 37 0 0 1 0 0 FN1 2335 broad.mit.edu 37 2 216288199 216288199 + Missense_Mutation SNP G G T TCGA-HW-A5KK-01A-11D-A27K-08 TCGA-HW-A5KK-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b22eb7-4e33-40b3-876c-70db5f2803d1 255ac70b-b68b-4384-be0e-057217146e1e g.chr2:216288199G>T ENST00000354785.4 - 9 1636 c.1267C>A c.(1267-1269)Ccc>Acc p.P423T FN1_ENST00000359671.1_Missense_Mutation_p.P423T|FN1_ENST00000357867.4_Missense_Mutation_p.P423T|FN1_ENST00000346544.3_Missense_Mutation_p.P423T|FN1_ENST00000357009.2_Missense_Mutation_p.P423T|FN1_ENST00000356005.4_Missense_Mutation_p.P423T|FN1_ENST00000345488.5_Missense_Mutation_p.P423T|FN1_ENST00000323926.6_Missense_Mutation_p.P423T|FN1_ENST00000336916.4_Missense_Mutation_p.P423T|FN1_ENST00000446046.1_Missense_Mutation_p.P423T|FN1_ENST00000426059.1_Missense_Mutation_p.P423T|FN1_ENST00000443816.1_Missense_Mutation_p.P423T|FN1_ENST00000432072.2_Missense_Mutation_p.P423T|FN1_ENST00000421182.1_Missense_Mutation_p.P423T P02751 FINC_HUMAN fibronectin 1 423 Collagen-binding.|Fibronectin type-II 2. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding FN1/ALK(2) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 109 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TATAGGAAGGGGAAGTGGCAC 0.463000 6 57 0.0215528 0.0215528 1 1 0 RAC2 5880 broad.mit.edu 37 22 37637140 37637140 + Silent SNP C C T TCGA-HW-A5KK-01A-11D-A27K-08 TCGA-HW-A5KK-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b22eb7-4e33-40b3-876c-70db5f2803d1 255ac70b-b68b-4384-be0e-057217146e1e g.chr22:37637140C>T ENST00000401529.3 - 3 273 c.174G>A c.(172-174)gcG>gcA p.A58A RAC2_ENST00000406508.1_Intron|RAC2_ENST00000249071.6_Intron|RAC2_ENST00000405484.1_Intron P15153 RAC2_HUMAN ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2) 0 axon guidance|platelet activation|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane GTP binding|GTPase activity|protein binding breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1) 12 GACACCAACACGCTCCCTCCA 0.647000 4 20 0 0 1 0 0 CEP250 11190 broad.mit.edu 37 20 34059913 34059913 + Silent SNP T T C TCGA-HW-A5KK-01A-11D-A27K-08 TCGA-HW-A5KK-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b22eb7-4e33-40b3-876c-70db5f2803d1 255ac70b-b68b-4384-be0e-057217146e1e g.chr20:34059913T>C ENST00000397527.1 + 11 1707 c.987T>C c.(985-987)tcT>tcC p.S329S CEP250_ENST00000342580.4_Silent_p.S329S NM_007186.3 NP_009117.2 Q9BV73 CP250_HUMAN centrosomal protein 250kDa 329 centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex protein C-terminus binding|protein kinase binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Lung NSC(9;0.00156)|all_lung(11;0.00243) BRCA - Breast invasive adenocarcinoma(18;0.0106) ATGAAGCATCTCTTAGTAGGA 0.423000 25 166 0 0 1 0 0 LZTR1 8216 broad.mit.edu 37 22 21347144 21347144 + Missense_Mutation SNP G G A TCGA-HW-A5KK-01A-11D-A27K-08 TCGA-HW-A5KK-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b22eb7-4e33-40b3-876c-70db5f2803d1 255ac70b-b68b-4384-be0e-057217146e1e g.chr22:21347144G>A ENST00000215739.8 + 11 1570 c.1211G>A c.(1210-1212)gGg>gAg p.G404E LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Missense_Mutation_p.G385E NM_006767.3 NP_006758.2 Q8N653 LZTR1_HUMAN leucine-zipper-like transcription regulator 1 404 anatomical structure morphogenesis sequence-specific DNA binding transcription factor activity breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3) 42 all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) TACATCTTCGGGGGCACGGTG 0.652000 4 12 0 0 1 0 0 GSDMD 79792 broad.mit.edu 37 8 144645068 144645068 + Silent SNP C C A TCGA-HW-A5KK-01A-11D-A27K-08 TCGA-HW-A5KK-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b22eb7-4e33-40b3-876c-70db5f2803d1 255ac70b-b68b-4384-be0e-057217146e1e g.chr8:144645068C>A ENST00000526406.1 + 14 2332 c.1449C>A c.(1447-1449)ccC>ccA p.P483P GSDMD_ENST00000533063.1_Silent_p.P531P|GSDMD_ENST00000262580.4_Silent_p.P483P NM_001166237.1 NP_001159709.1 P57764 GSDMD_HUMAN gasdermin D 483 SGMLVPELAIPVVYLLGALTMLSETQHKLLAEALESQTLLG PLELVGSLLEQSAPWQERSTMSLPPGLLGNSWGEGAPAWVL LDECGLELGEDTPHVCWEPQAQGRMCALYASLALLSGLSQE P -> PECWCRNSLSLLSTCWG (in Ref. 1; AAG22861). breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 12 GCCAGGAGCCCCACTAGCCTG 0.667000 5 29 0.00116845 0.00122409 1 1 0 SUGP1 57794 broad.mit.edu 37 19 19414813 19414813 + Missense_Mutation SNP G G A TCGA-HW-A5KK-01A-11D-A27K-08 TCGA-HW-A5KK-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b22eb7-4e33-40b3-876c-70db5f2803d1 255ac70b-b68b-4384-be0e-057217146e1e g.chr19:19414813G>A ENST00000334782.5 - 5 590 c.578C>T c.(577-579)tCa>tTa p.S193L SUGP1_ENST00000585763.1_Intron|SUGP1_ENST00000247001.5_Intron Q8IWZ8 SUGP1_HUMAN SURP and G patch domain containing 1 116 nuclear mRNA splicing, via spliceosome nucleoplasm|spliceosomal complex RNA binding NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2) 22 AAAACACCATGACGAGGGGGG 0.577000 7 294 0 0 1 0 0 TSACC 128229 broad.mit.edu 37 1 156314492 156314492 + Frame_Shift_Del DEL G G - TCGA-HW-A5KK-01A-11D-A27K-08 TCGA-HW-A5KK-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b22eb7-4e33-40b3-876c-70db5f2803d1 255ac70b-b68b-4384-be0e-057217146e1e g.chr1:156314492delG ENST00000368255.3 + 3 516 c.156delG c.(154-156)ctfs p.L52fs TSACC_ENST00000368253.1_Frame_Shift_Del_p.L52fs|TSACC_ENST00000481479.1_3'UTR|TSACC_ENST00000368251.1_Frame_Shift_Del_p.L52fs|TSACC_ENST00000368254.1_Frame_Shift_Del_p.L52fs|TSACC_ENST00000368252.1_Frame_Shift_Del_p.L52fs NM_144627.3 NP_653228.1 TSSK6 activating co-chaperone CAACAAAGCTGCCCTCGGGTA 0.512 15 128 --- --- --- --- BMPR1B 658 broad.mit.edu 37 4 96046194 96046194 + Frame_Shift_Del DEL C C - TCGA-HW-A5KK-01A-11D-A27K-08 TCGA-HW-A5KK-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b22eb7-4e33-40b3-876c-70db5f2803d1 255ac70b-b68b-4384-be0e-057217146e1e g.chr4:96046194delC ENST00000515059.1 + 8 790 c.507delC c.(505-507)tafs p.Y169fs BMPR1B_ENST00000264568.4_Frame_Shift_Del_p.Y169fs|BMPR1B_ENST00000394931.1_Frame_Shift_Del_p.Y169fs|BMPR1B_ENST00000440890.2_Frame_Shift_Del_p.Y199fs NM_001203.2 NP_001194.1 O00238 BMR1B_HUMAN bone morphogenetic protein receptor, type IB 169 BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation receptor complex ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta receptor activity breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;6.51e-07) ATGAAACTTACATTCCTCCTG 0.408 15 50 --- --- --- --- ELL2 22936 broad.mit.edu 37 5 95233957 95233961 + Frame_Shift_Del DEL TGGAC TGGAC - TCGA-HW-A5KK-01A-11D-A27K-08 TCGA-HW-A5KK-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b22eb7-4e33-40b3-876c-70db5f2803d1 255ac70b-b68b-4384-be0e-057217146e1e g.chr5:95233957_95233961delTGGAC ENST00000237853.4 - 8 1857_1861 c.1508_1512delGTCCA c.(1507-1512)afs p.SP503fs ELL2_ENST00000431061.2_Frame_Shift_Del_p.SP253fs NM_012081.5 NP_036213.2 O00472 ELL2_HUMAN elongation factor, RNA polymerase II, 2 503 regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter transcription elongation factor complex breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2) 24 all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198) all cancers(79;2.16e-15) CACTGGAATTTGGACTGGAGTTATT 0.346 8 89 --- --- --- --- NANOS1 340719 broad.mit.edu 37 10 120789635 120789637 + In_Frame_Del DEL GAC GAC - TCGA-HW-A5KK-01A-11D-A27K-08 TCGA-HW-A5KK-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b22eb7-4e33-40b3-876c-70db5f2803d1 255ac70b-b68b-4384-be0e-057217146e1e g.chr10:120789635_120789637delGAC ENST00000425699.1 + 1 408_410 c.322_324delGAC c.(322-324)del p.D112del NM_199461.2 NP_955631.1 Q8WY41 NANO1_HUMAN nanos homolog 1 (Drosophila) 112 epithelial cell migration perinuclear region of cytoplasm protein binding|RNA binding|translation repressor activity|zinc ion binding lung(1) 1 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.0193) ctacgacgaggacgacgacgacg 0.788 2 4 --- --- --- --- SMARCC2 6601 broad.mit.edu 37 12 56559113 56559113 + Frame_Shift_Del DEL G G - TCGA-HW-A5KK-01A-11D-A27K-08 TCGA-HW-A5KK-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b22eb7-4e33-40b3-876c-70db5f2803d1 255ac70b-b68b-4384-be0e-057217146e1e g.chr12:56559113delG ENST00000394023.3 - 27 3326 c.3221delC c.(3220-3222)ctfs p.P1074fs SMARCC2_ENST00000347471.4_Frame_Shift_Del_p.P1074fs|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000550164.1_Frame_Shift_Del_p.P1074fs|SMARCC2_ENST00000267064.4_Frame_Shift_Del_p.P1043fs NM_001130420.1 NP_001123892.1 Q8TAQ2 SMRC2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 1043 Pro-rich. chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex DNA binding|protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(18;0.123) ATGGGGTCCAGGGGGGGGAAC 0.577 8 138 --- --- --- --- NCOR2 9612 broad.mit.edu 37 12 124829298 124829298 + Frame_Shift_Del DEL C C - TCGA-HW-A5KK-01A-11D-A27K-08 TCGA-HW-A5KK-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b22eb7-4e33-40b3-876c-70db5f2803d1 255ac70b-b68b-4384-be0e-057217146e1e g.chr12:124829298delC ENST00000356219.3 - 33 4735 c.4580delG c.(4579-4581)gcfs p.G1527fs NCOR2_ENST00000429285.2_Frame_Shift_Del_p.G1510fs|NCOR2_ENST00000404621.1_Frame_Shift_Del_p.G1510fs|NCOR2_ENST00000404121.2_Frame_Shift_Del_p.G1081fs|NCOR2_ENST00000397355.1_Frame_Shift_Del_p.G1511fs|NCOR2_ENST00000405201.1_Frame_Shift_Del_p.G1520fs NM_006312.5 NP_006303.4 Q9Y618 NCOR2_HUMAN nuclear receptor corepressor 2 1528 cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) CGCAATGGAGCCCCCCGAGCT 0.706 2 4 --- --- --- --- MESP2 145873 broad.mit.edu 37 15 90320121 90320144 + In_Frame_Del DEL AGGGGCAGGGGCAAGGGCAGGGGC AGGGGCAGGGGCAAGGGCAGGGGC - rs56192595 TCGA-HW-A5KK-01A-11D-A27K-08 TCGA-HW-A5KK-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b22eb7-4e33-40b3-876c-70db5f2803d1 255ac70b-b68b-4384-be0e-057217146e1e g.chr15:90320121_90320144delAGGGGCAGGGGCAAGGGCAGGGGC ENST00000341735.3 + 1 533_556 c.533_556delAGGGGCAGGGGCAAGGGCAGGGGC c.(532-558)gag>g p.EGQGQGQGQ178del MESP2_ENST00000560219.1_Intron|MESP2_ENST00000558723.1_Intron NM_001039958.1 NP_001035047.1 Q0VG99 MESP2_HUMAN mesoderm posterior 2 homolog (mouse) 178 Notch signaling pathway nucleus DNA binding p.Q198_G205delQGQGQGQG(1) kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 6 Lung NSC(78;0.0221)|all_lung(78;0.0448) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514) ACGCaggcggaggggcaggggcaagggcaggggcaggggcaggg 0.777 6 11 --- --- --- --- NPIPA5 100288332 broad.mit.edu 37 16 15457598 15457609 + In_Frame_Del DEL GCTGAGGGTGGA GCTGAGGGTGGA - TCGA-HW-A5KK-01A-11D-A27K-08 TCGA-HW-A5KK-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b22eb7-4e33-40b3-876c-70db5f2803d1 255ac70b-b68b-4384-be0e-057217146e1e g.chr16:15457598_15457609delGCTGAGGGTGGA ENST00000360151.4 - 8 959_970 c.960_971delTCCACCCTCAGC c.(958-972)gcg>gc p.APPSA320del NM_001277325.1 NP_001264254.1 nuclear pore complex interacting protein family, member A5 ATTATCATCCGCTGAGGGTGGAGCTGAGGGTG 0.509 7 85 --- --- --- --- PHOSPHO1 0 broad.mit.edu 37 17 47302390 47302392 + In_Frame_Del DEL AGG AGG - TCGA-HW-A5KK-01A-11D-A27K-08 TCGA-HW-A5KK-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b22eb7-4e33-40b3-876c-70db5f2803d1 255ac70b-b68b-4384-be0e-057217146e1e g.chr17:47302390_47302392delAGG ENST00000413580.1 - 3 512_514 c.95_97delCCT c.(94-99)tgc>t p.SC32del PHOSPHO1_ENST00000514112.1_In_Frame_Del_p.SC32del|PHOSPHO1_ENST00000310544.4_Intron NM_001143804.1|NM_178500.3 NP_001137276.1|NP_848595.1 Q8TCT1 PHOP1_HUMAN phosphatase, orphan 1 0 regulation of bone mineralization metal ion binding|phosphoethanolamine/phosphocholine phosphatase activity Epithelial(5;8.1e-06)|all cancers(6;7.71e-05) Choline(DB00122) ggagagcagcaggaggaggagga 0.700 4 7 --- --- --- --- TPTEP1 0 broad.mit.edu 37 22 17131536 17131537 + RNA INS - - CTG rs34452519 TCGA-HW-A5KK-01A-11D-A27K-08 TCGA-HW-A5KK-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b22eb7-4e33-40b3-876c-70db5f2803d1 255ac70b-b68b-4384-be0e-057217146e1e g.chr22:17131536_17131537insCTG ENST00000426585.1 + 0 2562_2563 TGCCCACTCTTCTGGTCTCATG 0.540 3 2 --- --- --- --- RP1-272J12.1 0 broad.mit.edu 37 22 35411457 35411457 + RNA DEL A A - TCGA-HW-A5KK-01A-11D-A27K-08 TCGA-HW-A5KK-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b22eb7-4e33-40b3-876c-70db5f2803d1 255ac70b-b68b-4384-be0e-057217146e1e g.chr22:35411457delA ENST00000448318.4 - 0 836 tggatcctggaagagaaaaag 0.512 2 4 --- --- --- ---