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 VCX 26609 broad.mit.edu 37 X 7812055 7812055 + Nonstop_Mutation SNP T T A TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chrX:7812055T>A ENST00000381059.3 + 3 838 c.619T>A c.(619-621)Tag>Aag p.*207K VCX_ENST00000341408.4_Nonstop_Mutation_p.*187K NM_013452.2 NP_038480.2 Q9H320 VCX1_HUMAN variable charge, X-linked 0 chromatin organization|ribosome assembly|spermatogenesis nucleolus chromatin binding NS(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 10 Colorectal(8;0.0136)|Medulloblastoma(8;0.184) ACCGAGTGTGTAGACGGCCAA 0.572000 10 266 0 0 1 0 0 TENM4 26011 broad.mit.edu 37 11 78381519 78381519 + Silent SNP C C T TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr11:78381519C>T ENST00000278550.7 - 32 6333 c.5871G>A c.(5869-5871)acG>acA p.T1957T NM_001098816.2 NP_001092286.2 teneurin transmembrane protein 4 CGTTGGGCATCGTCACAGAAG 0.537000 65 344 0 0 1 0 0 ANKRD36BP2 0 broad.mit.edu 37 2 89104958 89104958 + RNA SNP A A G TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr2:89104958A>G ENST00000393525.3 + 0 4898 AATTCAAATCATTGATTTCTG 0.289000 3 29 0 0 1 0 0 TBC1D2B 23102 broad.mit.edu 37 15 78290635 78290635 + Missense_Mutation SNP C C T rs117285325 by1000genomes TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr15:78290635C>T ENST00000409931.3 - 13 2778 c.2707G>A c.(2707-2709)Gac>Aac p.D903N TBC1D2B_ENST00000492078.1_5'UTR|TBC1D2B_ENST00000300584.3_Missense_Mutation_p.R920Q Q9UPU7 TBD2B_HUMAN TBC1 domain family, member 2B 0 intracellular protein binding|Rab GTPase activator activity p.D903N(3)|p.R920Q(1) breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 26 GTAGGCGCGTCGGTTCCGGAT 0.617000 10 108 0 0 1 0 0 EPN3 55040 broad.mit.edu 37 17 48613837 48613837 + Missense_Mutation SNP A A G rs3785915 by1000genomes TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr17:48613837A>G ENST00000537145.1 + 2 304 c.167A>G c.(166-168)cAa>cGa p.Q56R EPN3_ENST00000541226.1_5'UTR|EPN3_ENST00000268933.3_5'UTR Q9H201 EPN3_HUMAN epsin 3 0 ENTH. clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm lipid binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 14 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;2.88e-09) CCCATCCTTCAAGACTGTGAC 0.652000 5 117 0 0 1 0 0 AHR 196 broad.mit.edu 37 7 17378954 17378954 + Missense_Mutation SNP C C A TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr7:17378954C>A ENST00000242057.4 + 10 2148 c.1505C>A c.(1504-1506)cCg>cAg p.P502Q AHR_ENST00000492120.1_3'UTR NM_001621.4 NP_001612.1 P35869 AHR_HUMAN aryl hydrocarbon receptor 502 apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process cytosolic aryl hydrocarbon receptor complex|transcription factor complex Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding p.P502L(1) NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3) 33 Lung NSC(10;0.0392)|all_lung(11;0.0754) AATACTGCACCGATGGGAAAT 0.403000 150 638 2.96194e-67 3.40308e-67 1 1 0 ODF1 4956 broad.mit.edu 37 8 103564103 103564103 + Missense_Mutation SNP C C A TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr8:103564103C>A ENST00000285402.3 + 1 304 c.148C>A c.(148-150)Cac>Aac p.H50N NM_024410.3 NP_077721.2 Q14990 ODFP1_HUMAN outer dense fiber of sperm tails 1 50 2 X 5 AA repeats of [RC]-C-L-C-D. cell differentiation|multicellular organismal development|spermatogenesis outer dense fiber structural molecule activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 20 all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826) CTGTGACTTGCACCCATATCC 0.493000 116 1523 6.75472e-32 7.6522e-32 1 1 0 FLG 2312 broad.mit.edu 37 1 152277100 152277100 + Missense_Mutation SNP C C T rs139262132 byFrequency TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr1:152277100C>T ENST00000368799.1 - 3 10297 c.10262G>A c.(10261-10263)aGc>aAc p.S3421N FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 3421 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GTGCCTGGAGCTGTCTCGTGC 0.597000 Ichthyosis 26 1130 0 0 1 0 0 DCP1B 196513 broad.mit.edu 37 12 2062350 2062350 + Missense_Mutation SNP C C G TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr12:2062350C>G ENST00000280665.6 - 7 835 c.756G>C c.(754-756)caG>caC p.Q252H DCP1B_ENST00000540622.1_Missense_Mutation_p.Q126H|DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000397173.4_Missense_Mutation_p.Q150H NM_152640.3 NP_689853.3 Q8IZD4 DCP1B_HUMAN decapping mRNA 1B 252 Poly-Gln. exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytosol|nucleus hydrolase activity|protein binding p.Q252H(8) NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1) 24 OV - Ovarian serous cystadenocarcinoma(31;0.00193) gctgctgctgctgGTGGAGAG 0.552000 12 360 0 0 1 0 0 ENY2 56943 broad.mit.edu 37 8 110348356 110348356 + Splice_Site SNP G G A TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr8:110348356G>A ENST00000521688.1 + 2 151 c.e2-1 ENY2_ENST00000522407.1_Intron|ENY2_ENST00000520147.1_Splice_Site|ENY2_ENST00000521662.1_Splice_Site NM_001193557.1|NM_020189.5 NP_001180486.1|NP_064574.1 Q9NPA8 ENY2_HUMAN enhancer of yellow 2 homolog (Drosophila) histone deubiquitination|mRNA transport|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent SAGA complex ligand-dependent nuclear receptor transcription coactivator activity endometrium(2)|large_intestine(1)|lung(1) 4 all_neural(195;0.219) OV - Ovarian serous cystadenocarcinoma(57;9.05e-13) TTGATGTCCAGGTTAGCAAGA 0.363000 31 169 0 0 1 0 0 DSCAML1 57453 broad.mit.edu 37 11 117299205 117299205 + Missense_Mutation SNP C C T TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr11:117299205C>T ENST00000321322.6 - 33 6182 c.6181G>A c.(6181-6183)Gct>Act p.A2061T DSCAML1_ENST00000527706.1_Missense_Mutation_p.A1791T NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 2001 axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) GGAGGGGCAGCGCTGGGGGCG 0.731000 11 87 0 0 1 0 0 FABP12 646486 broad.mit.edu 37 8 82439272 82439272 + Missense_Mutation SNP C C T TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr8:82439272C>T ENST00000360464.4 - 3 393 c.331G>A c.(331-333)Gat>Aat p.D111N RP11-257P3.3_ENST00000523380.1_RNA NM_001105281.1 NP_001098751.1 A6NFH5 FBP12_HUMAN fatty acid binding protein 12 111 lipid binding|transporter activity large_intestine(1)|lung(3) 4 ATTTTCCCATCCACCAGCTTT 0.413000 8 101 0 0 1 0 0 AC015849.16 0 broad.mit.edu 37 17 34233871 34233871 + RNA SNP G G A rs9912793 by1000genomes TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr17:34233871G>A ENST00000587132.1 - 0 4156 AAATCTCAGTGTTGAACTTGA 0.517000 7 208 0 0 1 0 0 AZU1 566 broad.mit.edu 37 19 829611 829611 + Missense_Mutation SNP C C T TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr19:829611C>T ENST00000233997.2 + 3 286 c.265C>T c.(265-267)Cgg>Tgg p.R89W NM_001700.3 NP_001691.1 P20160 CAP7_HUMAN azurocidin 1 89 Peptidase S1. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cellular extravasation|defense response to Gram-negative bacterium|glial cell migration|induction of positive chemotaxis|inflammatory response|macrophage chemotaxis|microglial cell activation|monocyte activation|positive regulation of cell adhesion|positive regulation of fractalkine biosynthetic process|positive regulation of interleukin-1 beta biosynthetic process|positive regulation of MHC class II biosynthetic process|positive regulation of phagocytosis|positive regulation of tumor necrosis factor biosynthetic process|proteolysis|regulation of vascular permeability azurophil granule|extracellular region heparin binding|serine-type endopeptidase activity|toxin binding NS(1)|endometrium(1)|kidney(1)|lung(4)|pancreas(1)|upper_aerodigestive_tract(2) 10 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCTGAGGCGGCGGGAGAGGCA 0.632000 14 592 0 0 1 0 0 MYH4 4622 broad.mit.edu 37 17 10358056 10358056 + Missense_Mutation SNP A A G TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr17:10358056A>G ENST00000255381.2 - 22 2617 c.2507T>C c.(2506-2508)cTg>cCg p.L836P CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 836 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 CTTGAAATACAGCTTCATCCA 0.438000 100 424 0 0 1 0 0 SPTBN2 6712 broad.mit.edu 37 11 66468054 66468054 + Silent SNP G G A rs149829140 byFrequency TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr11:66468054G>A ENST00000533211.1 - 17 3847 c.3516C>T c.(3514-3516)caC>caT p.H1172H SPTBN2_ENST00000309996.2_Silent_p.H1172H|SPTBN2_ENST00000529997.1_Silent_p.H1172H O15020 SPTN2_HUMAN spectrin, beta, non-erythrocytic 2 1172 actin filament capping|axon guidance|cell death|vesicle-mediated transport cytosol|spectrin actin binding|structural constituent of cytoskeleton autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 74 CCTGGAAGCCGTGGGCCTGGG 0.647000 10 367 0 0 1 0 0 CXCR1 3577 broad.mit.edu 37 2 219029412 219029412 + Missense_Mutation SNP G G A TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr2:219029412G>A ENST00000295683.2 - 2 643 c.523C>T c.(523-525)Cgc>Tgc p.R175C NM_000634.2 NP_000625.1 P25024 CXCR1_HUMAN chemokine (C-X-C motif) receptor 1 175 dendritic cell chemotaxis|inflammatory response integral to membrane|plasma membrane interleukin-8 receptor activity p.R175C(1) endometrium(1)|large_intestine(2)|lung(7)|prostate(3) 13 TAAGCCTGGCGGAAAAGGAAG 0.522000 25 288 0 0 1 0 0 PTPRS 5802 broad.mit.edu 37 19 5219432 5219432 + Missense_Mutation SNP G G A TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr19:5219432G>A ENST00000372412.4 - 23 4048 c.3815C>T c.(3814-3816)cCg>cTg p.P1272L PTPRS_ENST00000592099.1_Missense_Mutation_p.P840L|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000587303.1_Missense_Mutation_p.P1271L|PTPRS_ENST00000588012.1_Missense_Mutation_p.P1249L|PTPRS_ENST00000353284.2_Missense_Mutation_p.P840L|PTPRS_ENST00000357368.4_Missense_Mutation_p.P1271L|PTPRS_ENST00000262963.6_Missense_Mutation_p.P1267L|PTPRS_ENST00000348075.2_Missense_Mutation_p.P1249L Q13332 PTPRS_HUMAN protein tyrosine phosphatase, receptor type, S 1271 cell adhesion integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1) 61 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182) CTGGGGGTCCGGGTTATCCAG 0.592000 83 389 0 0 1 0 0 KRT84 3890 broad.mit.edu 37 12 52779007 52779007 + Silent SNP G G C TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr12:52779007G>C ENST00000257951.3 - 1 429 c.363C>G c.(361-363)ggC>ggG p.G121G RP3-416H24.4_ENST00000547174.1_RNA NM_033045.3 NP_149034.2 Q9NSB2 KRT84_HUMAN keratin 84 121 Head. keratin filament structural constituent of epidermis breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3) 27 all_hematologic(5;0.12) BRCA - Breast invasive adenocarcinoma(357;0.189) TGTAACCAAAGCCAGGGCCAC 0.577000 88 1106 0 0 1 0 0 PRIMA1 145270 broad.mit.edu 37 14 94245551 94245551 + Missense_Mutation SNP G G A TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr14:94245551G>A ENST00000393140.1 - 3 302 c.200C>T c.(199-201)cCg>cTg p.P67L PRIMA1_ENST00000393143.1_Missense_Mutation_p.P67L|PRIMA1_ENST00000316227.3_Missense_Mutation_p.P67L NM_178013.3 NP_821092.1 Q86XR5 PRIMA_HUMAN proline rich membrane anchor 1 67 PRAD. neurotransmitter catabolic process cell junction|integral to membrane|synapse endometrium(1)|large_intestine(2)|lung(3)|skin(1) 7 all_cancers(154;0.127) Epithelial(152;0.138)|COAD - Colon adenocarcinoma(157;0.229) gggaggtggcgggggtggggg 0.632000 10 72 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55541791 55541791 + Silent SNP A A G TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr8:55541791A>G ENST00000220676.1 + 4 5497 c.5349A>G c.(5347-5349)gtA>gtG p.V1783V NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 1783 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) GCAGTGAGGTACCATATTCAC 0.443000 12 262 0 0 1 0 0 XKR7 343702 broad.mit.edu 37 20 30556116 30556116 + Silent SNP C C A TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr20:30556116C>A ENST00000217299.3 + 1 312 c.138C>A c.(136-138)ggC>ggA p.G46G NM_001011718.1 NP_001011718.1 Q5GH72 XKR7_HUMAN XK, Kell blood group complex subunit-related family, member 7 46 integral to membrane breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 34 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) tcggggcgggcggcccggggc 0.816000 7 48 0.0692343 0.0692343 1 1 0 KCNJ12 3768 broad.mit.edu 37 17 21318768 21318768 + Silent SNP G G A rs139060766 TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr17:21318768G>A ENST00000583088.1 + 3 1009 c.114G>A c.(112-114)acG>acA p.T38T KCNJ12_ENST00000331718.5_Silent_p.T38T NM_021012.4 NP_066292.2 potassium inwardly-rectifying channel, subfamily J, member 12 NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3) 70 Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732) AGGTGCACACGCGGCGCAGGT 0.622000 Prostate(3;0.18) 24 288 0 0 1 0 0 ANKRD30BP2 0 broad.mit.edu 37 21 14414844 14414844 + RNA SNP T T C rs148060711 by1000genomes TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr21:14414844T>C ENST00000507941.1 + 0 95 ACTGGGCCTGTGCCAATGGCC 0.433000 10 353 0 0 1 0 0 TENM3 55714 broad.mit.edu 37 4 183696229 183696229 + Missense_Mutation SNP G G A TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr4:183696229G>A ENST00000511685.1 + 24 5350 c.5227G>A c.(5227-5229)Ggt>Agt p.G1743S TENM3_ENST00000406950.2_Missense_Mutation_p.G1743S teneurin transmembrane protein 3 TGGCGAGAACGGTCAAAACTT 0.537000 86 315 0 0 1 0 0 OR10G9 219870 broad.mit.edu 37 11 123894473 123894473 + Missense_Mutation SNP G G A TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr11:123894473G>A ENST00000375024.1 + 1 754 c.754G>A c.(754-756)Gtt>Att p.V252I NM_001001953.1 NP_001001953.1 Q8NGN4 O10G9_HUMAN olfactory receptor, family 10, subfamily G, member 9 252 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1) 61 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) TTGCTTTTTTGTTCCCTGTGT 0.542000 119 575 0 0 1 0 0 MCM2 4171 broad.mit.edu 37 3 127325137 127325137 + Missense_Mutation SNP C C T TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr3:127325137C>T ENST00000265056.7 + 5 1094 c.850C>T c.(850-852)Cgc>Tgc p.R284C NM_004526.2 NP_004517.2 P49736 MCM2_HUMAN minichromosome maintenance complex component 2 284 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle chromatin|MCM complex ATP binding|helicase activity|metal ion binding ovary(3)|skin(2)|stomach(1) 6 CATCCATGTCCGCATCTCCCA 0.632000 313 807 0 0 1 0 0 DLGAP2 9228 broad.mit.edu 37 8 1497636 1497636 + Silent SNP C C T TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr8:1497636C>T ENST00000421627.2 + 2 911 c.777C>T c.(775-777)tcC>tcT p.S259S NM_004745.3 NP_004736.2 Q9P1A6 DLGP2_HUMAN discs, large (Drosophila) homolog-associated protein 2 338 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding breast(1)|endometrium(6)|lung(31)|prostate(3) 41 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) GGGACCTGTCCCTCAAGACCT 0.662000 13 501 0 0 1 0 0 TTI1 9675 broad.mit.edu 37 20 36641253 36641253 + Missense_Mutation SNP A A C TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr20:36641253A>C ENST00000373448.2 - 3 1204 c.966T>G c.(964-966)agT>agG p.S322R TTI1_ENST00000373447.3_Missense_Mutation_p.S322R|TTI1_ENST00000487362.1_Intron|TTI1_ENST00000449821.1_Missense_Mutation_p.S322R NM_014657.1 NP_055472.1 O43156 TTI1_HUMAN TELO2 interacting protein 1 322 binding breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3) 47 CCAATGATTGACTGCACTTCA 0.438000 241 629 0 0 1 0 0 CALN1 83698 broad.mit.edu 37 7 71252834 71252834 + Missense_Mutation SNP C C T TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr7:71252834C>T ENST00000395275.2 - 7 1100 c.712G>A c.(712-714)Gcc>Acc p.A238T CALN1_ENST00000329008.5_Missense_Mutation_p.A196T|CALN1_ENST00000431984.1_Missense_Mutation_p.A196T|CALN1_ENST00000412588.1_Missense_Mutation_p.A238T|CALN1_ENST00000405452.2_Missense_Mutation_p.A196T|CALN1_ENST00000395276.2_Missense_Mutation_p.A196T NM_031468.3 NP_113656.2 Q9BXU9 CABP8_HUMAN calneuron 1 196 Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane calcium ion binding biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2) 32 all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161) ATAGCAAAGGCGCATATGAGG 0.567000 26 438 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90162513 90162513 + RNA SNP T T C TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr16:90162513T>C ENST00000567960.1 + 0 1249 TUBB8P7_ENST00000564451.1_RNA p.N415N(2) GCAACATGAATGACCTGGTGT 0.537000 30 1194 0 0 1 0 0 KIF17 57576 broad.mit.edu 37 1 21031222 21031222 + Missense_Mutation SNP G G A rs150395335 TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr1:21031222G>A ENST00000247986.2 - 5 1151 c.841C>T c.(841-843)Cgc>Tgc p.R281C KIF17_ENST00000400463.3_Missense_Mutation_p.R281C|KIF17_ENST00000375044.1_Missense_Mutation_p.R181C Q9P2E2 KIF17_HUMAN kinesin family member 17 281 microtubule-based movement|protein transport cytoplasm|microtubule ATP binding NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209) TGCTTACAGCGCCCGTCCACC 0.662000 65 576 0 0 1 0 0 DYRK1A 1859 broad.mit.edu 37 21 38868512 38868512 + Missense_Mutation SNP G G T TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr21:38868512G>T ENST00000339659.3 + 8 2634 c.1164G>T c.(1162-1164)aaG>aaT p.K388N DYRK1A_ENST00000398960.2_Missense_Mutation_p.K397N|DYRK1A_ENST00000398956.2_Missense_Mutation_p.K397N|DYRK1A_ENST00000338785.3_Missense_Mutation_p.K397N|DYRK1A_ENST00000451934.1_Missense_Mutation_p.K397N|DYRK1A_ENST00000321219.8_Missense_Mutation_p.K397N|DYRK1A_ENST00000455387.2_Missense_Mutation_p.K169N NM_130436.2 NP_569120.1 Q13627 DYR1A_HUMAN dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A 397 Protein kinase. nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation nuclear speck ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 TCTTTGAGAAGTTGCCAGATG 0.353000 31 233 9.17885e-22 1.0255e-21 1 1 0 PTCH2 8643 broad.mit.edu 37 1 45294923 45294923 + Missense_Mutation SNP C C T TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr1:45294923C>T ENST00000447098.2 - 10 1288 c.1277G>A c.(1276-1278)gGc>gAc p.G426D PTCH2_ENST00000372192.3_Missense_Mutation_p.G426D NM_001166292.1 NP_001159764.1 Q9Y6C5 PTC2_HUMAN patched 2 426 SSD. protein complex assembly|spermatogenesis integral to plasma membrane hedgehog receptor activity NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 50 Acute lymphoblastic leukemia(166;0.155) CCCGGCAAGGCCCACGGAACC 0.677000 Basal Cell Nevus syndrome 62 224 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414346 20414346 + Silent SNP G G A TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr9:20414346G>A ENST00000380338.4 - 5 784 c.498C>T c.(496-498)agC>agT p.S166S MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S163S|MLLT3_ENST00000475957.1_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 166 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S166S(4) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctactgctgctgctgc 0.527000 T MLL ALL 8 296 0 0 1 0 0 EXD2 0 broad.mit.edu 37 14 69704529 69704529 + Silent SNP C C T TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr14:69704529C>T ENST00000409014.1 + 10 1812 c.1155C>T c.(1153-1155)ctC>ctT p.L385L EXD2_ENST00000409018.3_Silent_p.L510L|EXD2_ENST00000312994.5_Silent_p.L510L|EXD2_ENST00000492815.1_3'UTR|EXD2_ENST00000449989.1_Silent_p.L385L|EXD2_ENST00000409949.1_Silent_p.L385L|EXD2_ENST00000409675.1_Silent_p.L385L|EXD2_ENST00000409242.1_Silent_p.L385L NM_001193360.1 NP_001180289.1 Q9NVH0 EXD2_HUMAN exonuclease 3'-5' domain containing 2 385 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process intracellular 3'-5' exonuclease activity|nucleic acid binding breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1) 14 GGGCCCTGCTCAACGCGGAGA 0.612000 11 159 0 0 1 0 0 DENND5A 23258 broad.mit.edu 37 11 9166560 9166560 + Missense_Mutation SNP A A G TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr11:9166560A>G ENST00000328194.3 - 18 3424 c.3104T>C c.(3103-3105)aTc>aCc p.I1035T DENND5A_ENST00000530044.1_Missense_Mutation_p.I1035T|DENND5A_ENST00000527700.1_Missense_Mutation_p.I378T NM_001243254.1|NM_015213.3 NP_001230183.1|NP_056028.2 Q6IQ26 DEN5A_HUMAN DENN/MADD domain containing 5A 1035 PLAT. breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 ATGTCCTGTGATCTCATTCCT 0.493000 140 746 0 0 1 0 0 PSD 5662 broad.mit.edu 37 10 104163099 104163099 + Missense_Mutation SNP G G A TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr10:104163099G>A ENST00000020673.5 - 17 3459 c.2933C>T c.(2932-2934)gCc>gTc p.A978V PSD_ENST00000406432.1_Missense_Mutation_p.A978V NM_001270966.1|NM_002779.3 NP_001257895.1|NP_002770.3 A5PKW4 PSD1_HUMAN pleckstrin and Sec7 domain containing 978 regulation of ARF protein signal transduction cytoplasm|plasma membrane|ruffle ARF guanyl-nucleotide exchange factor activity|signal transducer activity breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Epithelial(162;1.27e-08)|all cancers(201;2.85e-07) CCCGGCCTGGGCCAGTGCTGC 0.642000 26 361 0 0 1 0 0 ZIC1 7545 broad.mit.edu 37 3 147128364 147128364 + Silent SNP G G A TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr3:147128364G>A ENST00000282928.4 + 1 1194 c.465G>A c.(463-465)tcG>tcA p.S155S NM_003412.3 NP_003403.2 Q15915 ZIC1_HUMAN Zic family member 1 155 behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 63 GCCACGCGTCGCCTAACGTGG 0.716000 55 98 0 0 1 0 0 SREBF2 6721 broad.mit.edu 37 22 42300961 42300961 + Missense_Mutation SNP C C T TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr22:42300961C>T ENST00000361204.4 + 18 3354 c.3188C>T c.(3187-3189)aCg>aTg p.T1063M SREBF2_ENST00000491541.1_3'UTR NM_004599.2 NP_004590.2 Q12772 SRBP2_HUMAN sterol regulatory element binding transcription factor 2 1063 cholesterol metabolic process ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex protein C-terminus binding NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 CGGCGCACCACGCAGAGCACC 0.697000 6 80 0 0 1 0 0 TNFRSF9 3604 broad.mit.edu 37 1 8000140 8000140 + Splice_Site SNP T T G TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr1:8000140T>G ENST00000377507.3 - 2 83 c.e2-2 NM_001561.5 NP_001552.2 Q07011 TNR9_HUMAN tumor necrosis factor receptor superfamily, member 9 induction of apoptosis|negative regulation of cell proliferation integral to plasma membrane binding|receptor activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 19 Ovarian(185;0.0634)|all_lung(157;0.151) all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649) AATGTCACTCTGCAAAAGATA 0.348000 7 47 0 0 1 0 0 HSP90AA1 3320 broad.mit.edu 37 14 102552342 102552342 + Silent SNP A A T TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr14:102552342A>T ENST00000334701.7 - 4 929 c.648T>A c.(646-648)acT>acA p.T216T HSP90AA1_ENST00000441629.2_Intron|HSP90AA1_ENST00000216281.8_Silent_p.T94T NM_001017963.2 NP_001017963.2 P07900 HS90A_HUMAN heat shock protein 90kDa alpha (cytosolic), class A member 1 94 axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction cytosol|melanosome|plasma membrane ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1) 28 Rifabutin(DB00615) TTCCAATTCCAGTATCCACAA 0.433000 66 393 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21238344 21238344 + Nonsense_Mutation SNP C C A TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr2:21238344C>A ENST00000233242.1 - 22 3533 c.3406G>T c.(3406-3408)Gag>Tag p.E1136* NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 1136 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) GCGAGGATCTCACTTCTGGCT 0.473000 35 481 1.08052e-11 1.18273e-11 1 1 0 OR5I1 10798 broad.mit.edu 37 11 55703122 55703122 + Missense_Mutation SNP A A T TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr11:55703122A>T ENST00000301532.3 - 1 754 c.755T>A c.(754-756)aTc>aAc p.I252N NM_006637.1 NP_006628.1 Q13606 OR5I1_HUMAN olfactory receptor, family 5, subfamily I, member 1 252 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 CCCTTGGTAGATCGTCACTGA 0.428000 9 160 0 0 1 0 0 TSSC2 0 broad.mit.edu 37 11 3427885 3427885 + RNA SNP A A G TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr11:3427885A>G ENST00000529482.1 + 0 1002 AGCTTCACAGATCCACCGCTG 0.587000 6 163 0 0 1 0 0 LHFPL2 10184 broad.mit.edu 37 5 77805805 77805805 + Missense_Mutation SNP G G A TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr5:77805805G>A ENST00000380345.2 - 4 907 c.232C>T c.(232-234)Cgg>Tgg p.R78W LHFPL2_ENST00000515007.2_Missense_Mutation_p.R78W NM_005779.2 NP_005770.1 Q6ZUX7 LHPL2_HUMAN lipoma HMGIC fusion partner-like 2 78 integral to membrane endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1) 6 all_lung(232;0.000409)|Lung NSC(167;0.00108)|Ovarian(174;0.0107)|Prostate(461;0.218) OV - Ovarian serous cystadenocarcinoma(54;6.48e-46)|Epithelial(54;8.43e-42)|all cancers(79;1.42e-36) AGCGTGTCCCGCTGGAAGTGC 0.687000 28 128 0 0 1 0 0 NPY5R 4889 broad.mit.edu 37 4 164272416 164272416 + Missense_Mutation SNP C C A TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr4:164272416C>A ENST00000515560.1 + 4 2513 c.991C>A c.(991-993)Cca>Aca p.P331T NPY5R_ENST00000506953.1_Missense_Mutation_p.P331T|NPY5R_ENST00000338566.3_Missense_Mutation_p.P331T Q15761 NPY5R_HUMAN neuropeptide Y receptor Y5 331 cardiac left ventricle morphogenesis|outflow tract morphogenesis integral to plasma membrane NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_hematologic(180;0.166) Prostate(90;0.109) TAAGTTCATACCAGGGGTCCC 0.403000 80 245 4.8811e-34 5.56858e-34 1 1 0 LGR6 59352 broad.mit.edu 37 1 202273709 202273709 + Missense_Mutation SNP C C T TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr1:202273709C>T ENST00000367278.3 + 11 1110 c.1021C>T c.(1021-1023)Cgg>Tgg p.R341W LGR6_ENST00000255432.7_Missense_Mutation_p.R289W|LGR6_ENST00000439764.2_Missense_Mutation_p.R202W|LGR6_ENST00000308543.3_3'UTR NM_001017403.1 NP_001017403.1 Q9HBX8 LGR6_HUMAN leucine-rich repeat containing G protein-coupled receptor 6 341 integral to membrane|plasma membrane protein-hormone receptor activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3) 36 CGCAGGCATCCGGCTGCTCCC 0.642000 25 319 0 0 1 0 0 RANBP3 8498 broad.mit.edu 37 19 5978075 5978075 + Missense_Mutation SNP C C G TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr19:5978075C>G ENST00000340578.6 - 1 76 c.19G>C c.(19-21)Gaa>Caa p.E7Q RANBP3_ENST00000541471.1_Missense_Mutation_p.E7Q|RANBP3_ENST00000591124.1_5'UTR|RANBP3_ENST00000034275.8_Missense_Mutation_p.E7Q|RANBP3_ENST00000591092.1_Missense_Mutation_p.E7Q|RANBP3_ENST00000439268.2_Missense_Mutation_p.E7Q NM_003624.2|NM_007320.2|NM_007322.2 NP_003615.2|NP_015559.2|NP_015561.1 Q9H6Z4 RANB3_HUMAN RAN binding protein 3 7 intracellular transport|protein transport cytoplasm|nucleus Ran GTPase binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1) 18 CCCCTACCTTCGTTCGCCAGG 0.701000 16 212 0 0 1 0 0 SEC31B 25956 broad.mit.edu 37 10 102249858 102249858 + Missense_Mutation SNP G G A TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr10:102249858G>A ENST00000370345.3 - 21 2969 c.2872C>T c.(2872-2874)Cct>Tct p.P958S NM_015490.3 NP_056305.1 Q9NQW1 SC31B_HUMAN SEC31 homolog B (S. cerevisiae) 958 Pro-rich. protein transport|vesicle-mediated transport endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1) 36 Colorectal(252;0.117) Epithelial(162;2.36e-10)|all cancers(201;2.09e-08) AAGCTTGCAGGAGGGGCTGGG 0.617000 102 450 0 0 1 0 0 TBC1D3P2 0 broad.mit.edu 37 17 60344525 60344525 + RNA SNP G G A rs72488592 by1000genomes TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr17:60344525G>A ENST00000581291.1 - 0 979 breast(2)|kidney(1)|lung(2) 5 TTTTGTTATCGGCATGAACGC 0.607000 29 1487 0 0 1 0 0 RNF182 221687 broad.mit.edu 37 6 13977539 13977539 + Silent SNP C C G TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr6:13977539C>G ENST00000488300.1 + 3 712 c.189C>G c.(187-189)gtC>gtG p.V63V RNF182_ENST00000544682.1_Silent_p.V63V|RNF182_ENST00000537663.1_Silent_p.V63V|RNF182_ENST00000537388.1_Silent_p.V63V NM_152737.3 NP_689950.1 Q8N6D2 RN182_HUMAN ring finger protein 182 63 cytoplasm|integral to membrane|intracellular membrane-bounded organelle protein binding|ubiquitin-protein ligase activity|zinc ion binding cervix(1)|large_intestine(7)|liver(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 15 Breast(50;0.00405)|Ovarian(93;0.0964) all_hematologic(90;0.135) Epithelial(50;0.195) GTGTCATTGTCTGTCCTTTCT 0.478000 160 805 0 0 1 0 0 STAU2 27067 broad.mit.edu 37 8 74516052 74516052 + Missense_Mutation SNP G G A TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr8:74516052G>A ENST00000355780.5 - 9 1060 c.842C>T c.(841-843)gCg>gTg p.A281V STAU2_ENST00000523558.1_Missense_Mutation_p.A141V|STAU2_ENST00000522695.1_Missense_Mutation_p.A281V|STAU2_ENST00000521451.1_Missense_Mutation_p.A93V|STAU2_ENST00000519961.1_Missense_Mutation_p.A313V|STAU2_ENST00000522509.1_Missense_Mutation_p.A281V|STAU2_ENST00000524300.1_Missense_Mutation_p.A313V|STAU2_ENST00000521727.1_Missense_Mutation_p.A293V|STAU2_ENST00000521210.1_Missense_Mutation_p.A209V|STAU2_ENST00000517542.1_Missense_Mutation_p.A275V NM_014393.2 NP_055208.2 Q9NUL3 STAU2_HUMAN staufen double-stranded RNA binding protein 2 313 transport endoplasmic reticulum|microtubule|nucleolus double-stranded RNA binding breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1) 19 Breast(64;0.0138) Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972) TTGAATTTGCGCCAGGCGGCT 0.403000 86 271 0 0 1 0 0 ERBB4 2066 broad.mit.edu 37 2 212578361 212578361 + Missense_Mutation SNP A A T TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr2:212578361A>T ENST00000342788.4 - 8 1206 c.896T>A c.(895-897)gTa>gAa p.V299E ERBB4_ENST00000402597.1_Missense_Mutation_p.V299E|ERBB4_ENST00000436443.1_Missense_Mutation_p.V299E NM_005235.2 NP_005226.1 Q15303 ERBB4_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 299 Cys-rich. cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 179 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) ACTGGAATCTACCACAAAGTT 0.328000 TSP Lung(8;0.080) 38 210 0 0 1 0 0 GJC3 349149 broad.mit.edu 37 7 99527179 99527179 + Missense_Mutation SNP C C T TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr7:99527179C>T ENST00000312891.2 - 1 64 c.65G>A c.(64-66)cGc>cAc p.R22H RP4-604G5.1_ENST00000456499.1_RNA NM_181538.2 NP_853516.1 Q8NFK1 CXG3_HUMAN gap junction protein, gamma 3, 30.2kDa 22 connexon complex|integral to membrane breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1) 9 Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323) AAGCAAGAGGCGCCCCACGGG 0.622000 14 223 0 0 1 0 0 MTMR11 10903 broad.mit.edu 37 1 149908108 149908108 + Silent SNP A A G rs1868992 byFrequency TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr1:149908108A>G ENST00000439741.2 - 2 331 c.81T>C c.(79-81)aaT>aaC p.N27N MTMR11_ENST00000369140.3_5'UTR|MTMR11_ENST00000406732.3_5'UTR|MTMR11_ENST00000361405.6_Silent_p.N27N|MTMR11_ENST00000492824.1_5'UTR NM_001145862.1 NP_001139334.1 A4FU01 MTMRB_HUMAN myotubularin related protein 11 27 phosphatase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4) 34 Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) CCGGCATCCTATTTTCCTGGA 0.557000 18 585 0 0 1 0 0 ELTD1 64123 broad.mit.edu 37 1 79387314 79387314 + Missense_Mutation SNP G G T TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr1:79387314G>T ENST00000370742.3 - 9 1304 c.1241C>A c.(1240-1242)tCc>tAc p.S414Y NM_022159.3 NP_071442.2 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain containing 1 414 GPS. neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 69 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) AGGACCAGAGGACATCAAAAT 0.383000 63 535 8.3131e-28 9.35224e-28 1 1 0 AC093838.4 0 broad.mit.edu 37 2 132277686 132277686 + RNA SNP C C T rs9287520 by1000genomes TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr2:132277686C>T ENST00000438378.2 + 0 2325 NR_026922.1 GGACAGATGGCGGCTCTGTGT 0.647000 5 155 0 0 1 0 0 RP11-867G23.8 0 broad.mit.edu 37 11 66130881 66130881 + Missense_Mutation SNP C C A TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr11:66130881C>A ENST00000531602.1 + 2 263 c.130C>A c.(130-132)Ctg>Atg p.L44M SLC29A2_ENST00000311161.7_3'UTR|SLC29A2_ENST00000357440.2_3'UTR|SLC29A2_ENST00000544554.1_3'UTR|SLC29A2_ENST00000546034.1_3'UTR|RP11-867G23.8_ENST00000580881.1_Intron p.L44M(1) kidney(1) 1 CGAGAAGAGGCTGCCAAAGAG 0.642000 9 122 1.08611e-07 1.12788e-07 1 1 0 SDHAP1 0 broad.mit.edu 37 3 195711423 195711423 + RNA SNP A A G TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr3:195711423A>G ENST00000427841.1 - 0 524 NR_003264.2 CTCTTGTACTAGAAACAGACC 0.552000 10 274 0 0 1 0 0 CCT6P1 0 broad.mit.edu 37 7 65222986 65222986 + RNA SNP G G T TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr7:65222986G>T ENST00000442266.1 + 0 578 GAATTCTGGCGTTTTTTACAA 0.289000 5 57 0.000157383 0.000159351 1 1 0 MLLT3 4300 broad.mit.edu 37 9 20414343 20414343 + Silent SNP A A G TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr9:20414343A>G ENST00000380338.4 - 5 787 c.501T>C c.(499-501)agT>agC p.S167S MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000475957.1_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 167 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S167S(19) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctactgctgctgc 0.532000 T MLL ALL 24 275 0 0 1 0 0 PCDH15 65217 broad.mit.edu 37 10 55566772 55566772 + Missense_Mutation SNP C C A TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr10:55566772C>A ENST00000373965.2 - 36 5016 c.4622G>T c.(4621-4623)aGt>aTt p.S1541I PCDH15_ENST00000414778.1_Missense_Mutation_p.S1538I NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 0 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding p.S1538N(1) NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) GTTGATATTACTGTGGATACT 0.453000 HNSCC(58;0.16) 23 242 1.10923e-09 1.19004e-09 1 1 0 MIB2 142678 broad.mit.edu 37 1 1565062 1565062 + Missense_Mutation SNP C C T TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr1:1565062C>T ENST00000378712.1 + 17 2555 c.2230C>T c.(2230-2232)Cgt>Tgt p.R744C MIB2_ENST00000378708.1_Silent_p.V833V|MIB2_ENST00000518681.1_Silent_p.V919V|MIB2_ENST00000360522.4_Silent_p.V892V|MIB2_ENST00000355826.5_Silent_p.V970V|MIB2_ENST00000504599.1_Silent_p.V883V|MIB2_ENST00000378710.3_Silent_p.V891V|MIB2_ENST00000357210.4_Silent_p.V927V|MIB2_ENST00000520777.1_Silent_p.V980V|MIB2_ENST00000505820.2_Silent_p.V984V NM_001170689.1 NP_001164160.1 Q96AX9 MIB2_HUMAN mindbomb E3 ubiquitin protein ligase 2 865 Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade endosome actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1) 18 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) GCCAGGTGGTCGTCAGCAAGA 0.697000 29 135 0 0 1 0 0 ACTL9 284382 broad.mit.edu 37 19 8808115 8808115 + Missense_Mutation SNP C C T TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr19:8808115C>T ENST00000324436.3 - 1 1057 c.937G>A c.(937-939)Gtc>Atc p.V313I NM_178525.3 NP_848620.2 Q8TC94 ACTL9_HUMAN actin-like 9 313 cytoplasm|cytoskeleton NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 36 GAGAGGCCGACGGGTGACAGC 0.647000 80 462 0 0 1 0 0 ASTN1 460 broad.mit.edu 37 1 177001821 177001821 + Silent SNP G G A TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr1:177001821G>A ENST00000367654.2 - 3 649 c.636C>T c.(634-636)caC>caT p.H212H ASTN1_ENST00000424564.2_Silent_p.H212H|ASTN1_ENST00000361833.2_Silent_p.H212H|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Silent_p.H212H O14525 ASTN1_HUMAN astrotactin 1 212 cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 TCTCCCGTCCGTGCCCGCCGA 0.627000 44 389 0 0 1 0 0 TCTE1 202500 broad.mit.edu 37 6 44255545 44255545 + Silent SNP C C A TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr6:44255545C>A ENST00000371505.4 - 2 140 c.18G>T c.(16-18)acG>acT p.T6T TMEM151B_ENST00000438774.2_Intron|TCTE1_ENST00000371503.3_5'UTR NM_182539.3 NP_872345.2 Q5JU00 TCTE1_HUMAN t-complex-associated-testis-expressed 1 6 breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) ATGCTGATGTCGTTACGGTAT 0.562000 10 251 7.48243e-07 7.72072e-07 1 1 0 KRTAP10-2 386679 broad.mit.edu 37 21 45971299 45971299 + Missense_Mutation SNP T T C rs233240 by1000genomes TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr21:45971299T>C ENST00000391621.1 - 1 89 c.43A>G c.(43-45)Aac>Gac p.N15D TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron|KRTAP10-2_ENST00000498210.1_5'UTR NM_198693.2 NP_941966.1 P60368 KR102_HUMAN keratin associated protein 10-2 15 N -> D (in dbSNP:rs233240). keratin filament p.N15D(1) large_intestine(1)|lung(4)|skin(1) 6 TGCCAGGAGTTGGTGCAGGCG 0.667000 18 710 0 0 1 0 0 TOR1AIP1 26092 broad.mit.edu 37 1 179887348 179887348 + Missense_Mutation SNP G G A TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr1:179887348G>A ENST00000435319.3 + 10 1917 c.1726G>A c.(1726-1728)Gcc>Acc p.A576T TOR1AIP1_ENST00000271583.3_Missense_Mutation_p.A592T NM_001267578.1|NM_015602.3 NP_001254507.1|NP_056417.2 Q5JTV8 TOIP1_HUMAN torsin A interacting protein 1 576 integral to membrane|nuclear inner membrane breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1) 18 ACCTGAAAATGCCCTGAAAAG 0.428000 65 270 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7576852 7576852 + Splice_Site SNP C C T rs11575997 TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr17:7576852C>T ENST00000420246.2 - 9 1126 c.e9+1 TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Splice_Site NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.?(24)|p.0?(8)|p.I332fs*49(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) AGACTTAGTACCTGAAGGGTG 0.458000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 57 297 0 0 1 0 0 TRAV9-2 0 broad.mit.edu 37 14 22409639 22409639 + RNA SNP G G A TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr14:22409639G>A ENST00000390441.2 + 0 185 TAAACTGCACGTACACAGCCA 0.488000 49 182 0 0 1 0 0 USP10 9100 broad.mit.edu 37 16 84812641 84812641 + Missense_Mutation SNP G G A TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr16:84812641G>A ENST00000219473.7 + 14 2463 c.2350G>A c.(2350-2352)Gaa>Aaa p.E784K USP10_ENST00000570191.1_Missense_Mutation_p.E788K NM_001272075.1|NM_005153.2 NP_001259004.1|NP_005144.2 Q14694 UBP10_HUMAN ubiquitin specific peptidase 10 784 DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process early endosome|intermediate filament cytoskeleton|nucleus cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1) 17 ACCAACTGCTGAACGCACAGC 0.572000 27 472 0 0 1 0 0 TLR4 7099 broad.mit.edu 37 9 120475078 120475078 + Silent SNP A A G TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr9:120475078A>G ENST00000355622.6 + 3 773 c.672A>G c.(670-672)aaA>aaG p.K224K TLR4_ENST00000394487.4_Silent_p.K184K|TLR4_ENST00000472304.1_3'UTR NM_138554.4|NM_138557.2 NP_612564.1|NP_612567.1 O00206 TLR4_HUMAN toll-like receptor 4 224 activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 103 GTGCATTTAAAGAAATTAGGC 0.373000 37 342 0 0 1 0 0 ZFAT 57623 broad.mit.edu 37 8 135545161 135545161 + Missense_Mutation SNP G G A TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr8:135545161G>A ENST00000520727.1 - 13 3294 c.2995C>T c.(2995-2997)Cgg>Tgg p.R999W ZFAT_ENST00000429442.2_Missense_Mutation_p.R999W|ZFAT_ENST00000523399.1_Missense_Mutation_p.R949W|ZFAT_ENST00000377838.3_Missense_Mutation_p.R1011W|ZFAT_ENST00000520356.1_Missense_Mutation_p.R999W|ZFAT_ENST00000517307.1_5'UTR|ZFAT_ENST00000520214.1_Missense_Mutation_p.R999W NM_001029939.3 NP_001025110.2 Q9P243 ZFAT_HUMAN zinc finger and AT hook domain containing 1011 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0432) TTGTAGTGCCGCTTCAGAGAG 0.592000 3 58 0 0 1 0 0 ACE 1636 broad.mit.edu 37 17 61561229 61561229 + Missense_Mutation SNP C C G TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr17:61561229C>G ENST00000290866.4 + 11 1630 c.1606C>G c.(1606-1608)Ctg>Gtg p.L536V ACE_ENST00000428043.1_Missense_Mutation_p.L536V NM_000789.3 NP_000780.1 P12821 ACE_HUMAN angiotensin I converting enzyme 536 Peptidase M2 1. arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) GAGTTTTGTCCTGCAGTTCCA 0.592000 150 592 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414340 20414340 + Silent SNP G G A TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr9:20414340G>A ENST00000380338.4 - 5 790 c.504C>T c.(502-504)agC>agT p.S168S MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000475957.1_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 168 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S168S(5) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctgctactgctgc 0.537000 T MLL ALL 9 304 0 0 1 0 0 NACA 4666 broad.mit.edu 37 12 57110765 57110765 + Missense_Mutation SNP G G C TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr12:57110765G>C ENST00000454682.1 - 3 4830 c.4549C>G c.(4549-4551)Cca>Gca p.P1517A NACA_ENST00000546392.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000550952.1_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 0 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 GGGGTAGCTGGGACCTCTTTG 0.587000 T BCL6 NHL 36 597 0 0 1 0 0 WNK4 65266 broad.mit.edu 37 17 40940393 40940393 + Missense_Mutation SNP C C T TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr17:40940393C>T ENST00000246914.5 + 10 2029 c.2008C>T c.(2008-2010)Cgc>Tgc p.R670C WNK4_ENST00000587705.1_3'UTR NM_032387.4 NP_115763.2 Q96J92 WNK4_HUMAN WNK lysine deficient protein kinase 4 670 intracellular protein kinase cascade tight junction ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1) 35 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.0749) GAATCTCCGGCGCAGACCCCG 0.577000 55 239 0 0 1 0 0 CDH8 1006 broad.mit.edu 37 16 61935231 61935231 + Silent SNP G G A TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr16:61935231G>A ENST00000577390.1 - 3 1353 c.399C>T c.(397-399)acC>acT p.T133T CDH8_ENST00000577730.1_Silent_p.T133T|CDH8_ENST00000584337.1_Silent_p.T133T|CDH8_ENST00000299345.6_Silent_p.T133T NM_001796.4 NP_001787.2 P55286 CADH8_HUMAN cadherin 8, type 2 133 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4) 112 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) GAGCTGTTAGGGTATACTCAG 0.418000 96 584 0 0 1 0 0 OR4S1 256148 broad.mit.edu 37 11 48328426 48328426 + Missense_Mutation SNP A A G TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr11:48328426A>G ENST00000319988.1 + 1 652 c.652A>G c.(652-654)Atc>Gtc p.I218V NM_001004725.1 NP_001004725.1 Q8NGB4 OR4S1_HUMAN olfactory receptor, family 4, subfamily S, member 1 218 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3) 21 TTCCTATGTTATCATCTTACT 0.468000 73 627 0 0 1 0 0 PPP2R1B 5519 broad.mit.edu 37 11 111624222 111624222 + Missense_Mutation SNP T T C TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr11:111624222T>C ENST00000527614.1 - 9 1174 c.1109A>G c.(1108-1110)aAa>aGa p.K370R PPP2R1B_ENST00000393055.2_Missense_Mutation_p.K243R|PPP2R1B_ENST00000427203.2_Missense_Mutation_p.K209R|PPP2R1B_ENST00000426998.2_Missense_Mutation_p.K306R|PPP2R1B_ENST00000341980.6_Intron|PPP2R1B_ENST00000311129.5_Missense_Mutation_p.K370R NM_001177562.1|NM_002716.4 NP_001171033.1|NP_002707.3 P30154 2AAB_HUMAN protein phosphatase 2, regulatory subunit A, beta 370 protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2) 22 all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761) GGTATTTTCTTTGCCCAAAAT 0.338000 39 198 0 0 1 0 0 SRRM1 10250 broad.mit.edu 37 1 24993374 24993374 + Missense_Mutation SNP C C A TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr1:24993374C>A ENST00000323848.9 + 13 2012 c.1697C>A c.(1696-1698)cCt>cAt p.P566H SRRM1_ENST00000447431.2_Missense_Mutation_p.P578H|SRRM1_ENST00000537199.1_3'UTR|SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000374389.4_Missense_Mutation_p.P575H NM_005839.3 NP_005830.2 Q8IYB3 SRRM1_HUMAN serine/arginine repetitive matrix 1 566 Arg-rich.|Necessary for speckles and matrix localization.|Pro-rich.|Ser-rich. mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck DNA binding|protein binding|RNA binding p.P566H(2) breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2) 36 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19) UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138) CCCGCCCCTCCTCCTCGACGG 0.542000 11 337 3.03874e-20 3.37175e-20 1 1 0 AREL1 9870 broad.mit.edu 37 14 75136745 75136745 + Missense_Mutation SNP C C G TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr14:75136745C>G ENST00000356357.4 - 14 2208 c.1693G>C c.(1693-1695)Gag>Cag p.E565Q AREL1_ENST00000557401.1_5'UTR NM_001039479.1 NP_001034568.1 apoptosis resistant E3 ubiquitin protein ligase 1 AGAGAGGACTCATAGAGACAC 0.537000 58 645 0 0 1 0 0 ZNF491 126069 broad.mit.edu 37 19 11917498 11917498 + Nonsense_Mutation SNP G G T TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr19:11917498G>T ENST00000323169.5 + 3 1061 c.730G>T c.(730-732)Gaa>Taa p.E244* ZNF491_ENST00000492230.1_Intron NM_152356.3 NP_689569.2 Q8N8L2 ZN491_HUMAN zinc finger protein 491 244 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1) 26 AAAACCCTATGAATGTAAACT 0.418000 11 320 3.86212e-05 3.95989e-05 1 1 0 KRAS 3845 broad.mit.edu 37 12 25380275 25380275 + Missense_Mutation SNP T T G rs17851045 TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr12:25380275T>G ENST00000311936.3 - 3 374 c.183A>C c.(181-183)caA>caC p.Q61H KRAS_ENST00000256078.4_Missense_Mutation_p.Q61H|KRAS_ENST00000557334.1_Intron NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 61 Q -> H (in lung carcinoma; dbSNP:rs17851045).|Q -> R (in a colorectal cancer sample; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.Q61H(153) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) TGTACTCCTCTTGACCTGCTG 0.423000 Q61H(CL11_LARGE_INTESTINE)|Q61H(HS766T_PANCREAS)|Q61H(NCIH1155_LUNG)|Q61H(NCIH460_LUNG)|Q61H(T3M4_PANCREAS) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 103 282 0 0 1 0 0 LIF 3976 broad.mit.edu 37 22 30639993 30639993 + Missense_Mutation SNP C C T rs41281637 byFrequency TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr22:30639993C>T ENST00000249075.3 - 3 411 c.256G>A c.(256-258)Gtg>Atg p.V86M LIF_ENST00000403987.3_Missense_Mutation_p.R26H NM_002309.4 NP_002300.1 P15018 LIF_HUMAN leukemia inhibitory factor 86 immune response|leukemia inhibitory factor signaling pathway|negative regulation of hormone secretion|positive regulation of cell proliferation|positive regulation of macrophage differentiation|positive regulation of MAPKKK cascade|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of metanephric nephron tubule epithelial cell differentiation cytokine activity|growth factor activity|leukemia inhibitory factor receptor binding breast(1)|lung(3)|skin(3) 7 Epithelial(10;0.171) AAGTCCGTCACGTTGGGGCCA 0.627000 12 350 0 0 1 0 0 DAAM1 23002 broad.mit.edu 37 14 59820665 59820665 + Missense_Mutation SNP T T C TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr14:59820665T>C ENST00000395125.1 + 19 2392 c.2369T>C c.(2368-2370)gTg>gCg p.V790A DAAM1_ENST00000351081.1_Missense_Mutation_p.V790A|DAAM1_ENST00000553966.1_Intron|DAAM1_ENST00000360909.3_Missense_Mutation_p.V780A NM_014992.2 NP_055807.1 Q9Y4D1 DAAM1_HUMAN dishevelled associated activator of morphogenesis 1 790 FH2. actin cytoskeleton organization cytoplasm|plasma membrane actin binding|Rho GTPase binding breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(108;0.165) GTGGCAGAAGTGAAACCTAAA 0.363000 44 169 0 0 1 0 0 ZFHX3 463 broad.mit.edu 37 16 72923765 72923765 + Nonsense_Mutation SNP G G A TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr16:72923765G>A ENST00000268489.5 - 4 3985 c.3313C>T c.(3313-3315)Cag>Tag p.Q1105* ZFHX3_ENST00000397992.5_Nonsense_Mutation_p.Q191* NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 1105 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) CGCACATGCTGGATGAGGTTG 0.592000 44 293 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr20:33345744C>T ENST00000374796.2 - 8 3377 c.807G>A c.(805-807)caG>caA p.Q269Q NCOA6_ENST00000359003.2_Silent_p.Q269Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 269 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.Q269Q(15) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gctgctgctgctgttgttgtt 0.537000 11 311 0 0 1 0 0 NFAM1 150372 broad.mit.edu 37 22 42781196 42781196 + Missense_Mutation SNP C C T rs145224229 TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr22:42781196C>T ENST00000329021.5 - 6 821 c.784G>A c.(784-786)Gaa>Aaa p.E262K NM_145912.5 NP_666017.1 Q8NET5 NFAM1_HUMAN NFAT activating protein with ITAM motif 1 262 B cell differentiation|inflammatory response|intracellular signal transduction|positive regulation of B cell receptor signaling pathway|positive regulation of cytokine production|positive regulation of sequence-specific DNA binding transcription factor activity integral to membrane|intracellular|plasma membrane transmembrane receptor activity large_intestine(1)|lung(3) 4 AGGTTAAGTTCGCCATCATCT 0.502000 75 1560 0 0 1 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803552 142803552 + RNA SNP T T A rs141013493 by1000genomes TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr1:142803552T>A ENST00000423385.1 - 0 1413 TCCTGATGAATCTGCAGTCAG 0.269000 31 846 0 0 1 0 0 RAD17 5884 broad.mit.edu 37 5 68692367 68692367 + Missense_Mutation SNP T T A TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr5:68692367T>A ENST00000509734.1 + 15 2277 c.1599T>A c.(1597-1599)aaT>aaA p.N533K RAD17_ENST00000504177.1_Intron|RAD17_ENST00000354312.3_Missense_Mutation_p.N522K|RAD17_ENST00000361732.2_Missense_Mutation_p.N522K|RAD17_ENST00000354868.5_Missense_Mutation_p.N522K|RAD17_ENST00000358030.2_Missense_Mutation_p.N357K|RAD17_ENST00000282891.6_Missense_Mutation_p.N436K|RAD17_ENST00000345306.6_Missense_Mutation_p.N522K|RAD17_ENST00000305138.4_Missense_Mutation_p.N522K|RAD17_ENST00000521422.1_Missense_Mutation_p.N357K|RAD17_ENST00000380774.3_Missense_Mutation_p.N533K O75943 RAD17_HUMAN RAD17 homolog (S. pombe) 533 Interaction with MCM7. cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation nucleoplasm ATP binding|nucleoside-triphosphatase activity|protein binding Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183) TTCTAATAAATAAAAAGGTAA 0.338000 Other conserved DNA damage response genes 12 89 0 0 1 0 0 PCDHB18 0 broad.mit.edu 37 5 140615861 140615861 + RNA SNP G G A rs6871453 by1000genomes TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr5:140615861G>A ENST00000526308.1 + 0 1924 NR_001281.1 endometrium(9)|lung(7)|ovary(1)|urinary_tract(1) 18 GGTACCTCGGGCGGCCGAGCC 0.701000 12 534 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158618345 158618345 + Missense_Mutation SNP C C T rs148714399 by1000genomes TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr1:158618345C>T ENST00000368148.3 - 26 3848 c.3668G>A c.(3667-3669)cGa>cAa p.R1223Q SPTA1_ENST00000368147.3_Missense_Mutation_p.R1223Q NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 1223 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton p.R1223Q(1) NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) CTCATGCCGTCGCTGAAGAGC 0.507000 64 521 0 0 1 0 0 GPRASP1 9737 broad.mit.edu 37 X 101910080 101910080 + Silent SNP C C T rs144058687 byFrequency TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chrX:101910080C>T ENST00000537097.1 + 6 2052 c.1239C>T c.(1237-1239)gaC>gaT p.D413D GPRASP1_ENST00000415986.1_Silent_p.D413D|GPRASP1_ENST00000361600.5_Silent_p.D413D|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000444152.1_Silent_p.D413D NM_001184727.1 NP_001171656.1 Q5JY77 GASP1_HUMAN G protein-coupled receptor associated sorting protein 1 413 cytoplasm protein binding NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 GGGCTACAGACGAGTCCAGCA 0.542000 112 236 0 0 1 0 0 PPIL1 51645 broad.mit.edu 37 6 36824364 36824364 + Missense_Mutation SNP G G A TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr6:36824364G>A ENST00000373699.5 - 3 529 c.278C>T c.(277-279)aCg>aTg p.T93M PPIL1_ENST00000483552.1_5'UTR NM_016059.4 NP_057143.1 Q9Y3C6 PPIL1_HUMAN peptidylprolyl isomerase (cyclophilin)-like 1 93 PPIase cyclophilin-type. protein folding catalytic step 2 spliceosome peptidyl-prolyl cis-trans isomerase activity lung(1)|ovary(1) 2 ACACTTACCCGTGAATTTCAA 0.463000 69 245 0 0 1 0 0 CNGA4 1262 broad.mit.edu 37 11 6265298 6265298 + Missense_Mutation SNP A A G TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr11:6265298A>G ENST00000379936.2 + 6 1502 c.1387A>G c.(1387-1389)Atc>Gtc p.I463V NM_001037329.3 NP_001032406.1 Q8IV77 CNGA4_HUMAN cyclic nucleotide gated channel alpha 4 463 response to stimulus|sensory perception of smell cAMP binding endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1) 40 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGCACAGACCATCATGGAGGA 0.552000 146 403 0 0 1 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 22 265 0 0 1 0 0 PLEKHG5 57449 broad.mit.edu 37 1 6536011 6536013 + In_Frame_Del DEL CTC CTC - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr1:6536011_6536013delCTC ENST00000377748.1 - 4 855_857 c.358_360delGAG c.(358-360)del p.E120del PLEKHG5_ENST00000377740.3_In_Frame_Del_p.E120del|PLEKHG5_ENST00000535355.1_In_Frame_Del_p.E112del|PLEKHG5_ENST00000377728.3_In_Frame_Del_p.E43del|PLEKHG5_ENST00000400915.3_In_Frame_Del_p.E99del|PLEKHG5_ENST00000544978.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000400913.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377732.1_In_Frame_Del_p.E80del|PLEKHG5_ENST00000537245.1_In_Frame_Del_p.E122del|PLEKHG5_ENST00000377725.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000340850.5_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377737.2_In_Frame_Del_p.E43del NM_198681.3 NP_941374.2 O94827 PKHG5_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 5 99 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|perinuclear region of cytoplasm Rho guanyl-nucleotide exchange factor activity|signal transducer activity liver(1) 1 Ovarian(185;0.02)|all_lung(157;0.154) all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448) Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419) CCACAGAGCTCTCCTCCTCCTCC 0.631 OREG0013041 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 771 --- --- --- --- TAS1R1 0 broad.mit.edu 37 1 6638843 6638845 + In_Frame_Del DEL GCT GCT - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr1:6638843_6638845delGCT ENST00000333172.6 + 6 1918_1920 c.1725_1727delGCT c.(1723-1728)acg>ac p.TL575del TAS1R1_ENST00000351136.3_In_Frame_Del_p.TL321del|TAS1R1_ENST00000328191.4_In_Frame_Del_p.RC464del NM_138697.3 NP_619642.2 Q7RTX1 TS1R1_HUMAN taste receptor, type 1, member 1 575 sensory perception of umami taste plasma membrane protein heterodimerization activity|taste receptor activity NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2) 29 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443) Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642) CAGCTAACACgctgctgctgctg 0.611 10 327 --- --- --- --- VAMP3 9341 broad.mit.edu 37 1 7838212 7838214 + In_Frame_Del DEL TCA TCA - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr1:7838212_7838214delTCA ENST00000054666.6 + 4 381_383 c.266_268delTCA c.(265-270)ttc>t p.FI89del VAMP3_ENST00000470357.1_In_Frame_Del_p.FI61del NM_004781.3 NP_004772.1 Q15836 VAMP3_HUMAN vesicle-associated membrane protein 3 89 cellular membrane fusion|positive regulation of receptor recycling|protein complex assembly|protein transport|retrograde transport, endosome to Golgi|substrate adhesion-dependent cell spreading|vesicle docking involved in exocytosis cell junction|clathrin-coated vesicle|integral to membrane|recycling endosome|synapse|synaptosome protein binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3) 6 Ovarian(185;0.0634)|all_lung(157;0.178) all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;6.33e-69)|GBM - Glioblastoma multiforme(8;2.07e-34)|Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.38e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000805)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642) CTGGTTATCTTCATCATCATCAT 0.365 11 1147 --- --- --- --- TNFRSF9 3604 broad.mit.edu 37 1 7980912 7980914 + In_Frame_Del DEL CTT CTT - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr1:7980912_7980914delCTT ENST00000377507.3 - 8 915_917 c.749_751delAAG c.(748-753)gga>g p.EG250del NM_001561.5 NP_001552.2 Q07011 TNR9_HUMAN tumor necrosis factor receptor superfamily, member 9 250 Interaction with LRR-1. E -> G (in a colorectal cancer sample; somatic mutation). induction of apoptosis|negative regulation of cell proliferation integral to plasma membrane binding|receptor activity p.E250G(1) NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 19 Ovarian(185;0.0634)|all_lung(157;0.151) all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649) TCACATCCTCCTTCTTCTTCTTC 0.379 7 863 --- --- --- --- CLSTN1 22883 broad.mit.edu 37 1 9790640 9790642 + In_Frame_Del DEL CCT CCT - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr1:9790640_9790642delCCT ENST00000377298.4 - 19 3662_3664 c.2870_2872delAGG c.(2869-2874)ggg>g p.EG957del CLSTN1_ENST00000361311.4_In_Frame_Del_p.EG947del|CLSTN1_ENST00000477264.1_5'UTR|CLSTN1_ENST00000377288.3_In_Frame_Del_p.EG938del NM_001009566.1 NP_001009566.1 O94985 CSTN1_HUMAN calsyntenin 1 957 Glu-rich (highly acidic). homophilic cell adhesion cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane calcium ion binding breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 36 all_lung(157;0.222) all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419) CCCTGCTCCCCCTCCTCCTCCTC 0.645 8 601 --- --- --- --- ESPNP 0 broad.mit.edu 37 1 17034125 17034126 + RNA INS - - AGCT rs141324796 by1000genomes TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr1:17034125_17034126insAGCT ENST00000492551.1 - 0 477_478 NR_026567.1 CAGCAGCAGCCAGCTGAGCACC 0.718 8 56 --- --- --- --- LDLRAP1 26119 broad.mit.edu 37 1 25889632 25889632 + Frame_Shift_Del DEL T T - rs6687605 byFrequency TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr1:25889632delT ENST00000374338.4 + 6 723 c.604delT c.(604-606)ccfs p.S202fs LDLRAP1_ENST00000488127.1_3'UTR NM_015627.2 NP_056442.2 Q5SW96 ARH_HUMAN low density lipoprotein receptor adaptor protein 1 202 S -> H (in ARH; Lebanon; requires 2 nucleotide substitutions).|S -> P (in dbSNP:rs6687605). amyloid precursor protein metabolic process|cholesterol homeostasis|cholesterol metabolic process|positive regulation of receptor-mediated endocytosis|receptor internalization|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport|regulation of establishment of protein localization in plasma membrane|regulation of protein binding basal plasma membrane|cytosol|early endosome|internal side of plasma membrane|neurofilament|recycling endosome beta-amyloid binding|clathrin binding|low-density lipoprotein particle receptor binding|phosphatidylinositol-4,5-bisphosphate binding|phosphotyrosine binding|protein binding, bridging|protein complex binding|receptor signaling complex scaffold activity|signaling adaptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)|urinary_tract(1) 9 Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.63e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|GBM - Glioblastoma multiforme(114;0.00914)|READ - Rectum adenocarcinoma(331;0.0649) CTGCACCCCCTCCTTGAAGAG 0.637 11 529 --- --- --- --- ARID1A 8289 broad.mit.edu 37 1 27057727 27057729 + In_Frame_Del DEL CAG CAG - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr1:27057727_27057729delCAG ENST00000324856.7 + 3 1806_1808 c.1435_1437delCAG c.(1435-1437)del p.Q482del ARID1A_ENST00000374152.2_In_Frame_Del_p.Q99del|ARID1A_ENST00000457599.2_In_Frame_Del_p.Q482del NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 482 Poly-Gln. androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding p.Q479*(2) ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) TCCTCACCCTCAGCAGCAGCAGC 0.557 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 8 2015 --- --- --- --- C1orf94 84970 broad.mit.edu 37 1 34666398 34666398 + Frame_Shift_Del DEL A A - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr1:34666398delA ENST00000488417.1 + 3 1155 c.1035delA c.(1033-1035)ccfs p.P345fs C1orf94_ENST00000373374.3_Frame_Shift_Del_p.P155fs NM_001134734.1 NP_001128206.1 Q6P1W5 CA094_HUMAN chromosome 1 open reading frame 94 155 protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2) 32 Myeloproliferative disorder(586;0.0393) CCAAGGAGCCAAAAAAGGGTC 0.572 8 641 --- --- --- --- RP5-1198O20.4 0 broad.mit.edu 37 1 44570056 44570058 + RNA DEL CTG CTG - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr1:44570056_44570058delCTG ENST00000434244.1 + 0 2053_2055 TCCCAGCCGTCTGCTGCTGCTGC 0.576 7 584 --- --- --- --- DMRTB1 63948 broad.mit.edu 37 1 53930351 53930353 + In_Frame_Del DEL GCC GCC - rs75818218 TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr1:53930351_53930353delGCC ENST00000371445.3 + 3 847_849 c.792_794delGCC c.(790-795)ctg>ct p.LP264del DMRTB1_ENST00000463126.1_3'UTR NM_033067.1 NP_149056.1 Q96MA1 DMRTB_HUMAN DMRT-like family B with proline-rich C-terminal, 1 264 Pro-rich. sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity large_intestine(3)|lung(5)|ovary(1)|skin(1) 10 GCTACTACCTgccgccgccgccg 0.670 7 383 --- --- --- --- SPATA1 100505741 broad.mit.edu 37 1 84988200 84988201 + RNA INS - - T TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr1:84988200_84988201insT ENST00000370638.2 + 0 526 spermatogenesis associated 1 breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|prostate(1) 10 Epithelial(280;4.36e-10)|all cancers(265;7.1e-09)|BRCA - Breast invasive adenocarcinoma(282;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(397;0.00286)|KIRC - Kidney renal clear cell carcinoma(1967;0.0111) GGTAAGTTTTCTTTTTTTTTCT 0.327 8 279 --- --- --- --- ZNF326 284695 broad.mit.edu 37 1 90470782 90470784 + In_Frame_Del DEL GTG GTG - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr1:90470782_90470784delGTG ENST00000340281.4 + 4 331_333 c.188_190delGTG c.(187-192)agt>a p.SG63del ZNF326_ENST00000361911.5_In_Frame_Del_p.SG63del|ZNF326_ENST00000455342.2_Intron|ZNF326_ENST00000370447.2_In_Frame_Del_p.SG63del NM_182976.2 NP_892021.1 Q5BKZ1 ZN326_HUMAN zinc finger protein 326 63 Gly-rich.|Mediates transcriptional activation (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear matrix DNA binding central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1) 25 all_lung(203;0.0116)|Lung NSC(277;0.0417) all cancers(265;0.00728)|Epithelial(280;0.0265) GACAATCACAGTGGTGGTGGTGG 0.409 8 682 --- --- --- --- BRDT 676 broad.mit.edu 37 1 92447228 92447230 + In_Frame_Del DEL AGC AGC - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr1:92447228_92447230delAGC ENST00000370389.2 + 12 2623_2625 c.1699_1701delAGC c.(1699-1701)del p.S575del BRDT_ENST00000402388.1_In_Frame_Del_p.S648del|BRDT_ENST00000399546.2_In_Frame_Del_p.S648del|BRDT_ENST00000362005.3_In_Frame_Del_p.S648del|BRDT_ENST00000394530.3_In_Frame_Del_p.S602del NM_001242810.1 NP_001229739.1 Q58F21 BRDT_HUMAN bromodomain, testis-specific 648 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein serine/threonine kinase activity|transcription coactivator activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2) 56 all_lung(203;0.00531)|Lung NSC(277;0.0194) all cancers(265;0.0228)|Epithelial(280;0.133) ACTGAGTGAGagcagcagcagca 0.419 10 624 --- --- --- --- HFE2 148738 broad.mit.edu 37 1 145415369 145415371 + In_Frame_Del DEL GAG GAG - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr1:145415369_145415371delGAG ENST00000336751.5 + 3 426_428 c.188_190delGAG c.(187-192)cga>c p.RG63del HFE2_ENST00000497365.1_Intron|HFE2_ENST00000475797.1_Intron|HFE2_ENST00000357836.5_5'UTR NM_213653.3 NP_998818.1 Q6ZVN8 RGMC_HUMAN hemochromatosis type 2 (juvenile) 63 axon guidance anchored to membrane central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1) 14 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) GGAGCACTTCGAGGAGGAGGAGG 0.626 10 558 --- --- --- --- KIAA0907 22889 broad.mit.edu 37 1 155886422 155886423 + Frame_Shift_Del DEL CT CT - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr1:155886422_155886423delCT ENST00000368320.3 - 12 1571_1572 c.1546_1547delAG c.(1546-1548)gfs p.R516fs KIAA0907_ENST00000368321.3_Frame_Shift_Del_p.R516fs Q7Z7F0 K0907_HUMAN KIAA0907 516 p.R516fs*21(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1) 21 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;8.82e-06) TTACCTGTCCCTCTCTCTCTCT 0.396 33 1007 --- --- --- --- ATP1A4 480 broad.mit.edu 37 1 160134106 160134106 + Frame_Shift_Del DEL T T - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr1:160134106delT ENST00000368081.4 + 7 1410 c.939delT c.(937-939)acfs p.T313fs NM_144699.3 NP_653300.2 Q13733 AT1A4_HUMAN ATPase, Na+/K+ transporting, alpha 4 polypeptide 313 ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility sodium:potassium-exchanging ATPase complex ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 75 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) TTGGTGTCACTTTTTTTGCGC 0.537 9 1314 --- --- --- --- SLAMF7 57823 broad.mit.edu 37 1 160720196 160720197 + Frame_Shift_Del DEL AG AG - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr1:160720196_160720197delAG ENST00000368043.3 + 4 789_790 c.752_753delAG c.(751-753)afs p.K251fs SLAMF7_ENST00000368042.3_Frame_Shift_Del_p.K144fs|SLAMF7_ENST00000359331.4_Frame_Shift_Del_p.K251fs|SLAMF7_ENST00000444090.2_Intron|SLAMF7_ENST00000458104.2_Intron|SLAMF7_ENST00000458602.2_Intron|SLAMF7_ENST00000441662.2_Intron NM_021181.3 NP_067004.3 Q9NQ25 SLAF7_HUMAN SLAM family member 7 251 cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity integral to membrane receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4) 24 all_cancers(52;2.63e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) TGGTTTCTGAAGAGAGAGAGAC 0.475 7 1212 --- --- --- --- NOS1AP 9722 broad.mit.edu 37 1 162326888 162326890 + In_Frame_Del DEL CAG CAG - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr1:162326888_162326890delCAG ENST00000361897.5 + 8 1303_1305 c.901_903delCAG c.(901-903)del p.Q306del NOS1AP_ENST00000530878.1_In_Frame_Del_p.Q301del NM_001164757.1|NM_014697.2 NP_001158229.1|NP_055512.1 O75052 CAPON_HUMAN nitric oxide synthase 1 (neuronal) adaptor protein 306 Poly-Gln. regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity nitric-oxide synthase binding|PDZ domain binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2) 32 all_hematologic(112;0.203) BRCA - Breast invasive adenocarcinoma(70;0.0537) gcagctcctccagcagcAGCAGC 0.611 10 400 --- --- --- --- LMX1A 4009 broad.mit.edu 37 1 165177332 165177334 + In_Frame_Del DEL TGC TGC - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr1:165177332_165177334delTGC ENST00000342310.3 - 7 1165_1167 c.783_785delGCA c.(781-786)caa>ca p.QQ261del LMX1A_ENST00000489443.2_5'UTR|LMX1A_ENST00000294816.2_In_Frame_Del_p.QQ261del|LMX1A_ENST00000367893.4_In_Frame_Del_p.QQ261del NM_177398.3 NP_796372.1 Q8TE12 LMX1A_HUMAN LIM homeobox transcription factor 1, alpha 261 Gln-rich.|Poly-Gln. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4) 35 all_hematologic(923;0.248) CTGCTGATCTTGCTGCTGCTGCT 0.567 8 275 --- --- --- --- SCYL3 57147 broad.mit.edu 37 1 169833511 169833511 + Splice_Site DEL T T - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr1:169833511delT ENST00000367772.4 - 9 1151 c.955_splice c.e9+1 p.K318_splice SCYL3_ENST00000367770.1_Splice_Site_p.K318_splice|SCYL3_ENST00000367771.5_Splice_Site_p.K318_splice|SCYL3_ENST00000470238.1_5'UTR NM_181093.3 NP_851607.2 Q8IZE3 PACE1_HUMAN SCY1-like 3 (S. cerevisiae) 318 cell migration Golgi apparatus|lamellipodium ATP binding|protein binding|protein kinase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) AGCATTCACCTTTTTTGGGGC 0.393 7 647 --- --- --- --- PAPPA2 60676 broad.mit.edu 37 1 176762724 176762724 + Frame_Shift_Del DEL C C - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr1:176762724delC ENST00000367662.3 + 20 6213 c.5049delC c.(5047-5049)atfs p.I1683fs NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 1683 Sushi 5. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 TGTGTGTAATCCCCCCCAGTG 0.468 11 643 --- --- --- --- IPO9 55705 broad.mit.edu 37 1 201843998 201844000 + In_Frame_Del DEL GAG GAG - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr1:201843998_201844000delGAG ENST00000361565.4 + 22 2941_2943 c.2872_2874delGAG c.(2872-2874)del p.E962del NM_018085.4 NP_060555.2 Q96P70 IPO9_HUMAN importin 9 962 protein import into nucleus cytoplasm|nucleus histone binding|protein transporter activity cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 38 ggaggaggaagaggaggaggagg 0.443 15 628 --- --- --- --- REN 5972 broad.mit.edu 37 1 204135375 204135377 + In_Frame_Del DEL AGC AGC - rs142739309 TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr1:204135375_204135377delAGC ENST00000367195.2 - 1 88_90 c.45_47delGCT c.(43-48)ctc>ct p.LL15del REN_ENST00000272190.8_In_Frame_Del_p.LL15del P00797 RENI_HUMAN renin 15 angiotensin maturation|regulation of MAPKKK cascade extracellular space|membrane aspartic-type endopeptidase activity NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1) 19 all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109) Aliskiren(DB01258)|Remikiren(DB00212) GGAGCCCCAGAGCAGCAGCAGCA 0.581 7 679 --- --- --- --- RP11-739N20.2 0 broad.mit.edu 37 1 204363980 204363980 + RNA DEL A A - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr1:204363980delA ENST00000443515.1 + 0 146 tttgtttttcaaaaaaaaaaa 0.308 7 28 --- --- --- --- AGT 183 broad.mit.edu 37 1 230839055 230839055 + Frame_Shift_Del DEL A A - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr1:230839055delA ENST00000366667.4 - 5 1504 c.1290delT c.(1288-1290)ttfs p.F430fs NM_000029.3 NP_000020.1 P01019 ANGT_HUMAN angiotensinogen (serpin peptidase inhibitor, clade A, member 8) 430 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation extracellular space|soluble fraction acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5) 25 Breast(184;0.0735)|Ovarian(103;0.183) all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167) GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641) CTTCAAGCTCAAAAAAAATGC 0.562 9 511 --- --- --- --- ASXL2 55252 broad.mit.edu 37 2 26022304 26022306 + In_Frame_Del DEL CTG CTG - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr2:26022304_26022306delCTG ENST00000435504.4 - 5 644_646 c.351_353delCAG c.(349-354)agt>ag p.SS117del ASXL2_ENST00000497092.1_5'UTR|ASXL2_ENST00000336112.4_In_Frame_Del_p.SS89del|ASXL2_ENST00000272341.4_5'UTR Q76L83 ASXL2_HUMAN additional sex combs like 2 (Drosophila) 117 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3) 33 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCCACCATCACTGCTGCTGCTGC 0.463 18 1047 --- --- --- --- DHX57 90957 broad.mit.edu 37 2 39095411 39095413 + In_Frame_Del DEL CCA CCA - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr2:39095411_39095413delCCA ENST00000295373.6 - 2 261_263 c.135_137delTGG c.(133-138)gga>gg p.GG47del NM_198963.1 NP_945314.1 Q6P158 DHX57_HUMAN DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 47 Gly-rich. ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_hematologic(82;0.248) Gccgccacctccaccaccaccac 0.532 11 687 --- --- --- --- PSME4 23198 broad.mit.edu 37 2 54093344 54093345 + Frame_Shift_Ins INS - - T TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr2:54093344_54093345insT ENST00000404125.1 - 46 5468_5469 c.5413_5414insA c.(5413-5415)cttfs p.L1805fs PSME4_ENST00000421748.2_Frame_Shift_Ins_p.L949fs|PSME4_ENST00000476586.1_5'UTR NM_014614.2 NP_055429.2 Q14997 PSME4_HUMAN proteasome (prosome, macropain) activator subunit 4 1805 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction nuclear speck|proteasome complex binding p.T1691fs*>39(1) breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2) 60 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) ATTGGATAAGGTTTTTTTTACA 0.401 12 826 --- --- --- --- MTIF2 4528 broad.mit.edu 37 2 55464461 55464461 + Frame_Shift_Del DEL T T - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr2:55464461delT ENST00000394600.3 - 16 2710 c.1974delA c.(1972-1974)aafs p.K658fs MTIF2_ENST00000403721.1_Frame_Shift_Del_p.K658fs|MTIF2_ENST00000263629.4_Frame_Shift_Del_p.K658fs NM_001005369.1 NP_001005369.1 P46199 IF2M_HUMAN mitochondrial translational initiation factor 2 658 regulation of translational initiation mitochondrion GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 24 TTAGTTTAAATTTTTTTTGTT 0.378 9 408 --- --- --- --- AC007092.1 0 broad.mit.edu 37 2 58688842 58688843 + RNA DEL CT CT - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr2:58688842_58688843delCT ENST00000452840.1 + 0 127 TCTCTGCTAGCTCTCTCTCTCT 0.465 9 257 --- --- --- --- EHBP1 23301 broad.mit.edu 37 2 63101604 63101604 + Frame_Shift_Del DEL A A - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr2:63101604delA ENST00000263991.5 + 11 1709 c.1227delA c.(1225-1227)ccfs p.P409fs EHBP1_ENST00000431489.1_Frame_Shift_Del_p.P374fs|EHBP1_ENST00000405015.3_Frame_Shift_Del_p.P374fs|EHBP1_ENST00000405289.1_Frame_Shift_Del_p.P374fs|EHBP1_ENST00000354487.3_Frame_Shift_Del_p.P374fs NM_015252.3 NP_056067.2 Q8NDI1 EHBP1_HUMAN EH domain binding protein 1 409 cytoplasm|membrane biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 47 Lung NSC(7;0.0951)|all_lung(7;0.169) LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189) TCCTCTCACCAAAAACAGGAG 0.373 7 1089 --- --- --- --- DYSF 8291 broad.mit.edu 37 2 71801420 71801422 + In_Frame_Del DEL CCG CCG - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr2:71801420_71801422delCCG ENST00000258104.3 + 30 3544_3546 c.3267_3269delCCG c.(3265-3270)ttc>tt p.FR1089del DYSF_ENST00000409366.1_In_Frame_Del_p.FR1090del|DYSF_ENST00000409744.1_In_Frame_Del_p.FR1076del|DYSF_ENST00000410020.3_In_Frame_Del_p.FR1107del|DYSF_ENST00000429174.2_In_Frame_Del_p.FR1089del|DYSF_ENST00000409651.1_In_Frame_Del_p.FR1121del|DYSF_ENST00000413539.2_In_Frame_Del_p.FR1120del|DYSF_ENST00000410041.1_In_Frame_Del_p.FR1107del|DYSF_ENST00000409762.1_In_Frame_Del_p.FR1106del|DYSF_ENST00000394120.2_In_Frame_Del_p.FR1090del|DYSF_ENST00000409582.3_In_Frame_Del_p.FR1106del NM_001130976.1|NM_003494.3 NP_001124448.1|NP_003485.1 O75923 DYSF_HUMAN dysferlin 1089 Arg-rich. cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 CAGATGCCTTCCGCCGCCGCCGC 0.655 9 1075 --- --- --- --- RAB11FIP5 26056 broad.mit.edu 37 2 73315337 73315339 + In_Frame_Del DEL TGG TGG - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr2:73315337_73315339delTGG ENST00000258098.6 - 3 1647_1649 c.1407_1409delCCA c.(1405-1410)caa>ca p.HQ469del RAB11FIP5_ENST00000493523.2_5'UTR NM_015470.2 NP_056285.1 Q9BXF6 RFIP5_HUMAN RAB11 family interacting protein 5 (class I) 469 protein transport mitochondrial outer membrane|recycling endosome membrane gamma-tubulin binding biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 23 ACTTAGGCCTTGGTGGTGGTGGT 0.635 10 1206 --- --- --- --- SMYD5 10322 broad.mit.edu 37 2 73453009 73453011 + In_Frame_Del DEL GAG GAG - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr2:73453009_73453011delGAG ENST00000389501.4 + 13 1237_1239 c.1192_1194delGAG c.(1192-1194)del p.E403del NM_006062.2 NP_006053.2 Q6GMV2 SMYD5_HUMAN SMYD family member 5 403 Glu-rich. metal ion binding NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1) 13 ggaagaggaagaggaggaggagg 0.562 7 648 --- --- --- --- TMEM127 55654 broad.mit.edu 37 2 96919781 96919783 + In_Frame_Del DEL TGC TGC - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr2:96919781_96919783delTGC ENST00000258439.2 - 4 736_738 c.480_482delGCA c.(478-483)cat>ca p.QH160del TMEM127_ENST00000435268.1_In_Frame_Del_p.QH76del|TMEM127_ENST00000432959.1_In_Frame_Del_p.QH160del NM_001193304.2|NM_017849.3 NP_001180233.1|NP_060319.1 O75204 TM127_HUMAN transmembrane protein 127 160 negative regulation of cell proliferation|negative regulation of TOR signaling cascade cytoplasm|integral to membrane|plasma membrane endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1) 5 GTACTTCTTATGCTGCTGCTGCT 0.557 9 641 --- --- --- --- SEPT10 151011 broad.mit.edu 37 2 110301827 110301828 + Frame_Shift_Ins INS - - T TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr2:110301827_110301828insT ENST00000356688.4 - 12 1821_1822 c.1506_1507insA c.(1504-1509)aatagafs p.NR502fs SEPT10_ENST00000437928.1_3'UTR|SEPT10_ENST00000397712.2_3'UTR|SEPT10_ENST00000397714.2_3'UTR|SEPT10_ENST00000334001.6_3'UTR Q9P0V9 SEP10_HUMAN septin 10 0 cell cycle|cell division septin complex GTP binding breast(2)|endometrium(3)|large_intestine(4)|lung(8)|prostate(1) 18 CACACTTCTAGTTTTTTTTTAA 0.317 9 247 --- --- --- --- SLC20A1 6574 broad.mit.edu 37 2 113416607 113416608 + Frame_Shift_Del DEL AG AG - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr2:113416607_113416608delAG ENST00000272542.3 + 7 1523_1524 c.984_985delAG c.(982-987)ccagfs p.PE328fs SLC20A1_ENST00000480984.1_3'UTR NM_005415.4 NP_005406.3 Q8WUM9 S20A1_HUMAN solute carrier family 20 (phosphate transporter), member 1 328 phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade integral to plasma membrane inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity p.R332fs*14(1) breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3) 28 AGGAAGCTCCAGAGAGAGAGAG 0.515 9 503 --- --- --- --- CIR1 9541 broad.mit.edu 37 2 175213712 175213713 + Frame_Shift_Ins INS - - T TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr2:175213712_175213713insT ENST00000342016.3 - 10 957_958 c.865_866insA c.(865-867)acafs p.T289fs CIR1_ENST00000362053.5_3'UTR NM_004882.3 NP_004873.3 Q86X95 CIR1_HUMAN corepressor interacting with RBPJ, 1 289 Lys/Ser-rich. mRNA processing|negative regulation of transcription, DNA-dependent|RNA splicing nuclear speck protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1) 15 cttcctttgtatttttttttct 0.381 7 296 --- --- --- --- DNAH7 56171 broad.mit.edu 37 2 196788374 196788374 + Frame_Shift_Del DEL T T - rs140194798 TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr2:196788374delT ENST00000312428.6 - 23 3870 c.3770delA c.(3769-3771)atfs p.N1257fs NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 1257 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 ATCGCTAATATTTTTTTTTAC 0.418 14 477 --- --- --- --- ANKRD44 91526 broad.mit.edu 37 2 197943383 197943384 + Frame_Shift_Del DEL TG TG - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr2:197943383_197943384delTG ENST00000409153.1 - 16 1875_1876 c.1693_1694delCA c.(1693-1695)tfs p.H565fs ANKRD44_ENST00000450567.1_Intron|ANKRD44_ENST00000328737.2_Intron|ANKRD44_ENST00000539527.1_Frame_Shift_Del_p.H493fs|ANKRD44_ENST00000282272.8_Intron|ANKRD44_ENST00000337207.5_Intron Q8N8A2 ANR44_HUMAN ankyrin repeat domain 44 811 protein binding NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 45 OV - Ovarian serous cystadenocarcinoma(117;0.246) ATTTGGGGTATGTGTGTGTGTG 0.411 13 85 --- --- --- --- ALS2CR11 151254 broad.mit.edu 37 2 202352352 202352352 + Frame_Shift_Del DEL T T - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr2:202352352delT ENST00000439140.1 - 16 5490 c.5446delA c.(5446-5448)ttfs p.I1816fs ALS2CR11_ENST00000439802.1_3'UTR|ALS2CR11_ENST00000286195.3_Frame_Shift_Del_p.I619fs NM_001168221.1 NP_001161693.1 Q53TS8 AL2SA_HUMAN amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11 619 NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3) 33 CCTCTTTTAATTTTTTTTGGC 0.323 14 510 --- --- --- --- RQCD1 9125 broad.mit.edu 37 2 219449364 219449364 + Frame_Shift_Del DEL T T - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr2:219449364delT ENST00000273064.6 + 4 725 c.350delT c.(349-351)ctfs p.L117fs RQCD1_ENST00000295701.5_Frame_Shift_Del_p.L117fs|RQCD1_ENST00000509807.2_Frame_Shift_Del_p.L117fs|RQCD1_ENST00000542068.1_Frame_Shift_Del_p.L117fs NM_005444.2 NP_005435.1 Q92600 RCD1_HUMAN RCD1 required for cell differentiation1 homolog (S. pombe) 117 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|sex differentiation|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|nucleus protein binding endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1) 15 Renal(207;0.0915) Epithelial(149;1.13e-06)|all cancers(144;0.000192)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CACATCCCACTTTTTTTGTAC 0.413 9 1591 --- --- --- --- FAM134A 79137 broad.mit.edu 37 2 220046969 220046969 + Frame_Shift_Del DEL C C - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr2:220046969delC ENST00000430297.2 + 9 1386 c.1250delC c.(1249-1251)tcfs p.S417fs NM_024293.4 NP_077269.3 Q8NC44 F134A_HUMAN family with sequence similarity 134, member A 417 endoplasmic reticulum|integral to membrane central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2) 19 Renal(207;0.0915) Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGGGCAGGGTCCCCCCCAGAT 0.602 9 1387 --- --- --- --- EFHD1 80303 broad.mit.edu 37 2 233546363 233546365 + In_Frame_Del DEL GGA GGA - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr2:233546363_233546365delGGA ENST00000264059.3 + 4 1131_1133 c.654_656delGGA c.(652-657)cgg>cg p.RE218del EFHD1_ENST00000409613.1_In_Frame_Del_p.RE122del|EFHD1_ENST00000409708.1_In_Frame_Del_p.RE106del|EFHD1_ENST00000410095.1_In_Frame_Del_p.RE106del NM_025202.3 NP_079478.1 Q9BUP0 EFHD1_HUMAN EF-hand domain family, member D1 218 calcium ion binding|protein binding NS(1)|breast(1)|large_intestine(2)|lung(3) 7 all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Breast(86;0.0199)|Renal(207;0.025) Epithelial(121;2.08e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00825)|Lung(119;0.0101) AGCGGAAGCGGGAGGAGGAGGAG 0.547 8 723 --- --- --- --- GIGYF2 26058 broad.mit.edu 37 2 233620985 233620987 + In_Frame_Del DEL GAG GAG - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr2:233620985_233620987delGAG ENST00000373566.3 + 6 517_519 c.320_322delGAG c.(319-324)cga>c p.RG107del GIGYF2_ENST00000409547.1_In_Frame_Del_p.RG107del|GIGYF2_ENST00000409480.1_In_Frame_Del_p.RG107del|GIGYF2_ENST00000409196.3_In_Frame_Del_p.RG107del|GIGYF2_ENST00000373563.4_In_Frame_Del_p.RG107del|GIGYF2_ENST00000409451.3_In_Frame_Del_p.RG107del Q6Y7W6 PERQ2_HUMAN GRB10 interacting GYF protein 2 107 Poly-Gly. cell death protein binding p.G108R(2) NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 63 Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145) TTGACAGGACGAGGAGGAGGAGG 0.424 7 524 --- --- --- --- TATDN2 9797 broad.mit.edu 37 3 10291121 10291123 + In_Frame_Del DEL CTC CTC - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr3:10291121_10291123delCTC ENST00000287652.4 + 2 1288_1290 c.237_239delCTC c.(235-240)aac>aa p.NS79del TATDN2_ENST00000448281.2_In_Frame_Del_p.NS79del|RP11-438J1.1_ENST00000450534.1_In_Frame_Del_p.NS22del NM_014760.3 NP_055575.3 Q93075 TATD2_HUMAN TatD DNase domain containing 2 79 nucleus endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2) 28 GCAGAAATAACTCCTCCTCCTCC 0.635 11 1599 --- --- --- --- TMEM40 55287 broad.mit.edu 37 3 12790198 12790200 + In_Frame_Del DEL GAG GAG - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr3:12790198_12790200delGAG ENST00000314124.7 - 3 521_523 c.165_167delCTC c.(163-168)tct>tc p.SS69del TMEM40_ENST00000435575.1_Intron|TMEM40_ENST00000435218.2_In_Frame_Del_p.SS69del|TMEM40_ENST00000431022.2_In_Frame_Del_p.SS85del|TMEM40_ENST00000264728.8_In_Frame_Del_p.SS69del NM_018306.2 NP_060776.2 Q8WWA1 TMM40_HUMAN transmembrane protein 40 69 Ser-rich. integral to membrane breast(1)|large_intestine(3)|lung(5)|urinary_tract(1) 10 tgaggaggaagaggaggaggagg 0.419 9 1018 --- --- --- --- NKTR 4820 broad.mit.edu 37 3 42679035 42679036 + Frame_Shift_Ins INS - - C TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr3:42679035_42679036insC ENST00000232978.8 + 13 2027_2028 c.1839_1840insC c.(1837-1842)agccccfs p.SP613fs RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA NM_005385.3 NP_005376.2 P30414 NKTR_HUMAN natural killer-tumor recognition sequence 613 protein folding membrane cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 41 KIRC - Kidney renal clear cell carcinoma(284;0.24) TGAGTGACAGTCCCCCCCCTTC 0.421 7 1032 --- --- --- --- LIMD1 8994 broad.mit.edu 37 3 45636543 45636545 + In_Frame_Del DEL CAG CAG - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr3:45636543_45636545delCAG ENST00000273317.4 + 1 193_195 c.172_174delCAG c.(172-174)del p.Q63del LIMD1_ENST00000465039.1_Intron|LIMD1_ENST00000440097.1_In_Frame_Del_p.Q63del NM_014240.2 NP_055055.1 Q9UGP4 LIMD1_HUMAN LIM domains containing 1 63 Mediates nuclear export. cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent cytoplasmic mRNA processing body|nucleus|RNA-induced silencing complex protein binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1) 10 BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315) AATCCACCTCCAGCAGCAGCAGC 0.626 10 285 --- --- --- --- CCR3 1232 broad.mit.edu 37 3 46306948 46306948 + Frame_Shift_Del DEL T T - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr3:46306948delT ENST00000357422.2 + 4 842 c.299delT c.(298-300)gtfs p.V100fs CCR3_ENST00000541018.1_Frame_Shift_Del_p.V100fs|CCR3_ENST00000395942.2_Frame_Shift_Del_p.V100fs|CCR3_ENST00000545097.1_Frame_Shift_Del_p.V121fs|CCR3_ENST00000395940.2_Frame_Shift_Del_p.V100fs P51677 CCR3_HUMAN chemokine (C-C motif) receptor 3 100 cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis integral to plasma membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216) CATAACTGGGTTTTTGGCCAT 0.488 7 1616 --- --- --- --- CDC25A 993 broad.mit.edu 37 3 48200922 48200923 + Frame_Shift_Del DEL TC TC - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr3:48200922_48200923delTC ENST00000302506.3 - 14 1753_1754 c.1345_1346delGA c.(1345-1347)tfs p.D449fs CDC25A_ENST00000351231.3_Frame_Shift_Del_p.D409fs NM_001789.2 NP_001780.2 P30304 MPIP1_HUMAN cell division cycle 25A 449 Rhodanese. cell cycle checkpoint|cell division|cell proliferation|cellular response to UV|DNA replication|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle cytosol|nucleoplasm protein binding|protein tyrosine phosphatase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1) 20 BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684) ACCCAGGCGATCTCTCTCTCTC 0.515 8 437 --- --- --- --- RBM15B 29890 broad.mit.edu 37 3 51430822 51430824 + In_Frame_Del DEL CCA CCA - rs147738916 byFrequency TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr3:51430822_51430824delCCA ENST00000323686.4 + 1 2092_2094 c.1992_1994delCCA c.(1990-1995)ggc>gg p.GH664del NM_013286.4 NP_037418.3 Q8NDT2 RB15B_HUMAN RNA binding motif protein 15B 664 His-rich. interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent nucleoplasm nucleotide binding|protein binding|RNA binding endometrium(4)|large_intestine(5)|lung(3) 12 BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) AGGAACGGGGCCACCACCACCAC 0.635 12 246 --- --- --- --- ERC2 26059 broad.mit.edu 37 3 55733470 55733472 + In_Frame_Del DEL TGG TGG - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr3:55733470_55733472delTGG ENST00000288221.6 - 16 3036_3038 c.2781_2783delCCA c.(2779-2784)cat>ca p.HH931del NM_015576.1 NP_056391.1 O15083 ERC2_HUMAN ELKS/RAB6-interacting/CAST family member 2 931 Poly-His. cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1) 31 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) gtggtggtgatggtggtggtggt 0.502 21 1538 --- --- --- --- PDE12 201626 broad.mit.edu 37 3 57542768 57542770 + In_Frame_Del DEL CTT CTT - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr3:57542768_57542770delCTT ENST00000311180.8 + 1 765_767 c.662_664delCTT c.(661-666)cct>c p.PS221del PDE12_ENST00000487257.1_In_Frame_Del_p.PS221del NM_177966.5 NP_808881.3 Q6L8Q7 PDE12_HUMAN phosphodiesterase 12 221 hydrolase activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 20 KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127) CCCTCCTCACCTTCTTCTTCTTG 0.616 7 1237 --- --- --- --- FOXP1 27086 broad.mit.edu 37 3 71247357 71247359 + In_Frame_Del DEL TGC TGC - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr3:71247357_71247359delTGC ENST00000318789.4 - 6 699_701 c.174_176delGCA c.(172-177)caa>ca p.QQ58del FOXP1_ENST00000318779.3_In_Frame_Del_p.QQ58del|FOXP1_ENST00000498215.1_In_Frame_Del_p.QQ58del|FOXP1_ENST00000493089.1_In_Frame_Del_p.QQ58del|FOXP1_ENST00000468577.1_In_Frame_Del_p.QQ58del|FOXP1_ENST00000475937.1_In_Frame_Del_p.QQ58del|FOXP1_ENST00000484350.1_In_Frame_Del_p.QQ58del NM_001244810.1|NM_001244813.1|NM_032682.5 NP_001231739.1|NP_001231742.1|NP_116071.2 Q9H334 FOXP1_HUMAN forkhead box P1 58 Gln-rich. cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209) BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05) CAGTACCTGTTGCTGCTGCTGCT 0.586 T PAX5 ALL 11 693 --- --- --- --- DPPA4 55211 broad.mit.edu 37 3 109049606 109049606 + Frame_Shift_Del DEL T T - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr3:109049606delT ENST00000335658.6 - 5 498 c.444delA c.(442-444)aafs p.K148fs DPPA4_ENST00000478791.1_5'UTR NM_018189.3 NP_060659.3 Q7L190 DPPA4_HUMAN developmental pluripotency associated 4 148 nucleus protein binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 CCACCTTTAATTTTTTTTGCA 0.413 9 596 --- --- --- --- STXBP5L 9515 broad.mit.edu 37 3 121100250 121100250 + Frame_Shift_Del DEL A A - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr3:121100250delA ENST00000273666.6 + 23 2801 c.2530delA c.(2530-2532)aafs p.K844fs STXBP5L_ENST00000492541.1_Frame_Shift_Del_p.K844fs|STXBP5L_ENST00000497029.1_Frame_Shift_Del_p.K818fs|STXBP5L_ENST00000472879.1_Frame_Shift_Del_p.K820fs|STXBP5L_ENST00000471454.1_Frame_Shift_Del_p.K820fs NM_014980.2 NP_055795.1 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 844 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 GBM - Glioblastoma multiforme(114;0.0694) CTTTGCACGGAAAAATGACTC 0.388 7 1504 --- --- --- --- TMCC1 23023 broad.mit.edu 37 3 129370576 129370578 + In_Frame_Del DEL CTG CTG - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr3:129370576_129370578delCTG ENST00000393238.3 - 6 2048_2050 c.1708_1710delCAG c.(1708-1710)del p.Q570del TMCC1_ENST00000426664.2_In_Frame_Del_p.Q456del|TMCC1_ENST00000329333.5_In_Frame_Del_p.Q391del|TMCC1_ENST00000432054.2_In_Frame_Del_p.Q246del NM_001017395.3 NP_001017395.2 O94876 TMCC1_HUMAN transmembrane and coiled-coil domain family 1 570 integral to membrane PLXND1/TMCC1(4) breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1) 25 GCTGCACCACCTGCTGCTGCTGC 0.581 22 813 --- --- --- --- TMCC1 23023 broad.mit.edu 37 3 129546680 129546682 + In_Frame_Del DEL GCA GCA - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr3:129546680_129546682delGCA ENST00000393238.3 - 3 880_882 c.540_542delTGC c.(538-543)gca>gc p.AA180del TMCC1_ENST00000426664.2_In_Frame_Del_p.AA66del NM_001017395.3 NP_001017395.2 O94876 TMCC1_HUMAN transmembrane and coiled-coil domain family 1 180 integral to membrane PLXND1/TMCC1(4) breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1) 25 TGGTAGACATgcagcagcagcag 0.483 13 473 --- --- --- --- MRAS 22808 broad.mit.edu 37 3 138121035 138121037 + In_Frame_Del DEL AGA AGA - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr3:138121035_138121037delAGA ENST00000289104.4 + 6 1198_1200 c.551_553delAGA c.(550-555)cag>c p.QK184del MRAS_ENST00000474559.1_In_Frame_Del_p.QK184del|MRAS_ENST00000423968.2_In_Frame_Del_p.QK184del|MRAS_ENST00000464896.1_In_Frame_Del_p.QK108del NM_001085049.2|NM_001252090.1|NM_001252091.1|NM_012219.4 NP_001078518.1|NP_001239019.1|NP_001239020.1|NP_036351.3 O14807 RASM_HUMAN muscle RAS oncogene homolog 184 actin cytoskeleton organization|muscle organ development|Ras protein signal transduction intracellular|plasma membrane GTP binding|GTP-dependent protein binding|GTPase activity kidney(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 14 GAAAAAAGCCAGAAGAAGAAGAA 0.522 8 671 --- --- --- --- PIK3CB 5291 broad.mit.edu 37 3 138382756 138382756 + Frame_Shift_Del DEL T T - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr3:138382756delT ENST00000477593.1 - 20 2861 c.2788delA c.(2788-2790)ctfs p.T930fs PIK3CB_ENST00000544716.1_Frame_Shift_Del_p.T381fs|PIK3CB_ENST00000289153.2_Frame_Shift_Del_p.T930fs P42338 PK3CB_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta 930 PI3K/PI4K. activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 41 ACCTGGCCAGTTTTTTTGACC 0.443 7 474 --- --- --- --- GRK7 131890 broad.mit.edu 37 3 141535708 141535708 + Frame_Shift_Del DEL G G - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr3:141535708delG ENST00000264952.2 + 4 1615 c.1478delG c.(1477-1479)cgfs p.R493fs NM_139209.2 NP_631948.1 Q8WTQ7 GRK7_HUMAN G protein-coupled receptor kinase 7 493 AGC-kinase C-terminal. visual perception membrane ATP binding|G-protein coupled receptor kinase activity|signal transducer activity p.R493L(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 26 TCTGAGGTTCGGGGGGTGGAA 0.463 13 1855 --- --- --- --- CP 1356 broad.mit.edu 37 3 148930287 148930287 + Frame_Shift_Del DEL C C - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr3:148930287delC ENST00000264613.6 - 2 607 c.345delG c.(343-345)agfs p.R115fs NM_000096.3 NP_000087.1 P00450 CERU_HUMAN ceruloplasmin (ferroxidase) 115 F5/8 type A 1.|Plastocyanin-like 1. cellular iron ion homeostasis|copper ion transport|transmembrane transport extracellular space chaperone binding|ferroxidase activity breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152) LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) Drotrecogin alfa(DB00055) AGGTGTAGGGCCTAGAGGCAA 0.388 9 359 --- --- --- --- RP11-167H9.4 0 broad.mit.edu 37 3 149769296 149769296 + RNA DEL C C - rs59377959 TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr3:149769296delC ENST00000487840.1 + 0 46 TTCCTGGTGTCtttttttttt 0.463 7 310 --- --- --- --- RP11-167H9.4 0 broad.mit.edu 37 3 149769297 149769297 + RNA DEL T T - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr3:149769297delT ENST00000487840.1 + 0 46 TCCTGGTGTCttttttttttt 0.458 7 379 --- --- --- --- MED12L 116931 broad.mit.edu 37 3 151148114 151148116 + In_Frame_Del DEL CAG CAG - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr3:151148114_151148116delCAG ENST00000474524.1 + 42 6369_6371 c.6331_6333delCAG c.(6331-6333)del p.Q2115del MED12L_ENST00000273432.4_In_Frame_Del_p.Q1779del NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 2115 Gln-rich. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex p.Q2111E(1) NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GCAGCAGACCCAGCAGCAGCAGC 0.527 35 740 --- --- --- --- SMC4 10051 broad.mit.edu 37 3 160137290 160137291 + Frame_Shift_Ins INS - - A TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr3:160137290_160137291insA ENST00000357388.3 + 12 2267_2268 c.1816_1817insA c.(1816-1818)aaafs p.K606fs RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000360111.2_Frame_Shift_Ins_p.K606fs|SMC4_ENST00000344722.5_Frame_Shift_Ins_p.K606fs|SMC4_ENST00000462787.1_Frame_Shift_Ins_p.K606fs|SMC4_ENST00000469762.1_Frame_Shift_Ins_p.K581fs NM_001002800.1 NP_001002800.1 Q9NTJ3 SMC4_HUMAN structural maintenance of chromosomes 4 606 Flexible hinge. cell division|mitotic chromosome condensation condensin complex|cytoplasm|nucleus ATP binding|protein heterodimerization activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) AATAATTCAAGAAAAAAAATCT 0.337 7 718 --- --- --- --- GOLIM4 27333 broad.mit.edu 37 3 167747642 167747644 + In_Frame_Del DEL CTG CTG - rs61743912 byFrequency TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr3:167747642_167747644delCTG ENST00000470487.1 - 10 2046_2048 c.1357_1359delCAG c.(1357-1359)del p.Q453del GOLIM4_ENST00000309027.4_In_Frame_Del_p.Q425del NM_014498.3 NP_055313.1 O00461 GOLI4_HUMAN golgi integral membrane protein 4 453 Gln-rich.|Glu-rich. transport cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 CTCTTGCCACctgctgctgctgc 0.640 12 465 --- --- --- --- MECOM 2122 broad.mit.edu 37 3 168833257 168833257 + Frame_Shift_Del DEL T T - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr3:168833257delT ENST00000464456.1 - 7 3039 c.1839delA c.(1837-1839)aafs p.K613fs MECOM_ENST00000264674.3_Frame_Shift_Del_p.K678fs|MECOM_ENST00000472280.1_Frame_Shift_Del_p.K614fs|MECOM_ENST00000494292.1_Frame_Shift_Del_p.K801fs|MECOM_ENST00000460814.1_Frame_Shift_Del_p.K613fs|MECOM_ENST00000392736.3_Frame_Shift_Del_p.K613fs|MECOM_ENST00000468789.1_Frame_Shift_Del_p.K613fs|MECOM_ENST00000433243.2_Frame_Shift_Del_p.K614fs NM_001164000.1 NP_001157472.1 Q13465 MDS1_HUMAN MDS1 and EVI1 complex locus 22 sequence-specific DNA binding transcription factor activity p.G614fs*30(2) NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 85 CGTTGCTTCCTTTTTTTCCCC 0.498 9 434 --- --- --- --- PHC3 80012 broad.mit.edu 37 3 169896635 169896637 + In_Frame_Del DEL TGG TGG - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr3:169896635_169896637delTGG ENST00000494943.1 - 2 136_138 c.68_70delCCA c.(67-72)atc>a p.TI23del PHC3_ENST00000495893.1_In_Frame_Del_p.TI35del|PHC3_ENST00000481639.1_In_Frame_Del_p.TI35del|PHC3_ENST00000467570.1_In_Frame_Del_p.TI35del|PHC3_ENST00000497658.1_In_Frame_Del_p.TI35del|PHC3_ENST00000474275.1_In_Frame_Del_p.TI23del Q8NDX5 PHC3_HUMAN polyhomeotic homolog 3 (Drosophila) 23 Poly-Thr. multicellular organismal development PcG protein complex DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2) 26 all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655) GAAgtggtgatggtggtggtggt 0.493 27 2127 --- --- --- --- FXR1 0 broad.mit.edu 37 3 180666228 180666228 + Frame_Shift_Del DEL A A - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr3:180666228delA ENST00000357559.4 + 5 748 c.364delA c.(364-366)aafs p.K123fs FXR1_ENST00000491062.1_Frame_Shift_Del_p.K74fs|FXR1_ENST00000468861.1_Frame_Shift_Del_p.K38fs|FXR1_ENST00000445140.2_Frame_Shift_Del_p.K123fs|FXR1_ENST00000305586.7_Frame_Shift_Del_p.K38fs|FXR1_ENST00000480918.1_Frame_Shift_Del_p.K110fs NM_001013438.2|NM_005087.3 NP_001013456.1|NP_005078.2 P51114 FXR1_HUMAN fragile X mental retardation, autosomal homolog 1 123 apoptosis|cell differentiation|muscle organ development nucleolus|polysome p.N124fs*14(1) breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2) 26 all_cancers(143;6.07e-14)|Ovarian(172;0.0212) Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22) TAAAACTGTCAAAAAAAATAC 0.333 11 491 --- --- --- --- YEATS2 55689 broad.mit.edu 37 3 183493803 183493805 + In_Frame_Del DEL AGG AGG - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr3:183493803_183493805delAGG ENST00000305135.5 + 18 2664_2666 c.2469_2471delAGG c.(2467-2472)aca>ac p.TG823del NM_018023.4 NP_060493.3 Q9ULM3 YETS2_HUMAN YEATS domain containing 2 823 Gly-rich. histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex TBP-class protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3) 49 all_cancers(143;6.55e-10)|Ovarian(172;0.0303) all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) gcggcagcacaggaggaggagga 0.601 8 354 --- --- --- --- TRA2B 6434 broad.mit.edu 37 3 185637260 185637262 + In_Frame_Del DEL TCC TCC - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr3:185637260_185637262delTCC ENST00000453386.2 - 7 1020_1022 c.745_747delGGA c.(745-747)del p.G249del TRA2B_ENST00000382191.4_In_Frame_Del_p.G149del NM_004593.2 NP_004584.1 P62995 TRA2B_HUMAN transformer 2 beta homolog (Drosophila) 249 Arg/Ser-rich (RS2 domain). nuclear mRNA splicing, via spliceosome nucleus nucleotide binding|protein binding|RNA binding breast(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1) 18 CAGCTCTCCAtcctcctcctcct 0.404 7 483 --- --- --- --- ATP13A3 79572 broad.mit.edu 37 3 194181471 194181473 + In_Frame_Del DEL GAG GAG - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr3:194181471_194181473delGAG ENST00000439040.1 - 4 930_932 c.139_141delCTC c.(139-141)del p.L47del ATP13A3_ENST00000256031.4_In_Frame_Del_p.L47del Q9H7F0 AT133_HUMAN ATPase type 13A3 47 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 24 all_cancers(143;6.01e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;5.98e-05) GCATCCAATAGAGGAGGAGGAGG 0.463 12 1074 --- --- --- --- PDE6B 5158 broad.mit.edu 37 4 661763 661765 + In_Frame_Del DEL AGG AGG - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr4:661763_661765delAGG ENST00000255622.6 + 21 2514_2516 c.2471_2473delAGG c.(2470-2475)aag>a p.KE824del PDE6B_ENST00000429163.2_In_Frame_Del_p.KE545del|PDE6B_ENST00000496514.1_In_Frame_Del_p.KE824del NM_000283.3|NM_001145291.1 NP_000274.2|NP_001138763.1 P35913 PDE6B_HUMAN phosphodiesterase 6B, cGMP-specific, rod, beta 824 cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception cytosol|membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1) 30 CTGGAGGAGAAGGAGGAGGAGGA 0.562 15 1090 --- --- --- --- RGS12 6002 broad.mit.edu 37 4 3430398 3430399 + Frame_Shift_Ins INS - - A TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr4:3430398_3430399insA ENST00000336727.3 + 16 4429_4430 c.3525_3526insA c.(3523-3528)ggaaaafs p.GK1175fs RGS12_ENST00000382788.3_Frame_Shift_Ins_p.GK1175fs|RGS12_ENST00000344733.5_Frame_Shift_Ins_p.GK1175fs|RGS12_ENST00000338806.4_Frame_Shift_Ins_p.GK527fs|RGS12_ENST00000306648.7_Intron|RGS12_ENST00000538395.1_Intron NM_002926.3 NP_002917.1 O14924 RGS12_HUMAN regulator of G-protein signaling 12 1175 condensed nuclear chromosome|cytoplasm|plasma membrane GTPase activator activity|receptor signaling protein activity autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) CAAAGATTGGGAAAAAAAAATA 0.332 15 410 --- --- --- --- LRPAP1 4043 broad.mit.edu 37 4 3516576 3516582 + Frame_Shift_Del DEL AGCTTCT AGCTTCT - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr4:3516576_3516582delAGCTTCT ENST00000500728.2 - 7 1054_1060 c.908_914delAGAAGCT c.(907-915)ggfs p.EKL303fs LRPAP1_ENST00000296325.5_5'UTR NM_002337.3 NP_002328.1 P30533 AMRP_HUMAN low density lipoprotein receptor-related protein associated protein 1 303 LDL receptor binding (Potential). negative regulation of protein binding|negative regulation of very-low-density lipoprotein particle clearance|protein folding|vesicle-mediated transport cell surface|integral to membrane|plasma membrane asialoglycoprotein receptor activity|heparin binding|low-density lipoprotein particle receptor binding|receptor antagonist activity|unfolded protein binding|very-low-density lipoprotein particle receptor binding breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2) 14 UCEC - Uterine corpus endometrioid carcinoma (64;0.165) TGCGTGCCTCAGCTTCTCGTGCGCAAT 0.614 7 881 --- --- --- --- TLR10 81793 broad.mit.edu 37 4 38774956 38774956 + Frame_Shift_Del DEL T T - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr4:38774956delT ENST00000308973.4 - 4 2861 c.2256delA c.(2254-2256)aafs p.K752fs TLR10_ENST00000506111.1_Frame_Shift_Del_p.K752fs|TLR10_ENST00000361424.2_Frame_Shift_Del_p.K752fs|TLR10_ENST00000508334.1_Frame_Shift_Del_p.K752fs NM_001017388.2|NM_001195107.1|NM_030956.3 NP_001017388.1|NP_001182036.1|NP_112218.2 Q9BXR5 TLR10_HUMAN toll-like receptor 10 752 TIR. inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway integral to membrane|plasma membrane transmembrane receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2) 25 CCAAGTATGCTTTTTTTTCCA 0.388 7 473 --- --- --- --- KLB 152831 broad.mit.edu 37 4 39448946 39448946 + Frame_Shift_Del DEL G G - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr4:39448946delG ENST00000257408.4 + 4 2697 c.2600delG c.(2599-2601)tgfs p.W867fs NM_175737.3 NP_783864.1 Q86Z14 KLOTB_HUMAN klotho beta 867 Glycosyl hydrolase-1 2. carbohydrate metabolic process integral to membrane|plasma membrane cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6) 29 GTGATTCCCTGGGGGGTGCGC 0.647 7 958 --- --- --- --- LIMCH1 22998 broad.mit.edu 37 4 41648508 41648509 + Frame_Shift_Del DEL GA GA - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr4:41648508_41648509delGA ENST00000313860.7 + 12 1317_1318 c.1263_1264delGA c.(1261-1266)cggafs p.RR421fs LIMCH1_ENST00000512820.1_Frame_Shift_Del_p.RR409fs|LIMCH1_ENST00000514096.1_Frame_Shift_Del_p.RR262fs|LIMCH1_ENST00000508501.1_Frame_Shift_Del_p.RR421fs|LIMCH1_ENST00000503057.1_Frame_Shift_Del_p.RR806fs|LIMCH1_ENST00000512632.1_Frame_Shift_Del_p.RR421fs|LIMCH1_ENST00000396595.3_Frame_Shift_Del_p.RR267fs|LIMCH1_ENST00000513024.1_Frame_Shift_Del_p.RR250fs|LIMCH1_ENST00000381753.4_Frame_Shift_Del_p.RR255fs|LIMCH1_ENST00000511496.1_Frame_Shift_Del_p.RR262fs|LIMCH1_ENST00000509277.1_Frame_Shift_Del_p.RR255fs|LIMCH1_ENST00000512946.1_Frame_Shift_Del_p.RR421fs NM_014988.2 NP_055803.2 Q9UPQ0 LIMC1_HUMAN LIM and calponin homology domains 1 421 actomyosin structure organization actin binding|zinc ion binding p.E810fs*3(1)|p.E425fs*3(1) central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5) 41 TTAGAGAGCGGAGAGAGAGAGA 0.465 12 698 --- --- --- --- GABRG1 2565 broad.mit.edu 37 4 46060358 46060358 + Frame_Shift_Del DEL A A - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr4:46060358delA ENST00000295452.4 - 7 959 c.792delT c.(790-792)ttfs p.F264fs NM_173536.3 NP_775807.2 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 1 264 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity p.F264fs*3(1) breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) TGCTCAGGTCAAAAAAAATTG 0.294 11 442 --- --- --- --- UTP3 57050 broad.mit.edu 37 4 71554620 71554622 + In_Frame_Del DEL GAG GAG - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr4:71554620_71554622delGAG ENST00000254803.2 + 1 425_427 c.226_228delGAG c.(226-228)del p.E81del NM_020368.2 NP_065101.1 Q9NQZ2 SAS10_HUMAN UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae) 81 Glu-rich. brain development|chromatin modification|gene silencing nucleolus endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4) 18 Lung(101;0.235) ggaggatggcgaggaggaggagg 0.567 21 336 --- --- --- --- FGF5 2250 broad.mit.edu 37 4 81187992 81187994 + In_Frame_Del DEL TCC TCC - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr4:81187992_81187994delTCC ENST00000456523.3 + 1 200_202 c.14_16delTCC c.(13-18)ttc>t p.FL5del FGF5_ENST00000312465.7_In_Frame_Del_p.FL5del NM_033143.2 NP_149134.1 P12034 FGF5_HUMAN fibroblast growth factor 5 5 cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation extracellular space fibroblast growth factor receptor binding|growth factor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 22 AGCTTGTCCTTCCTCCTCCTCCT 0.631 7 568 --- --- --- --- NUDT9 53343 broad.mit.edu 37 4 88344097 88344098 + Frame_Shift_Del DEL TC TC - rs151296797 TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr4:88344097_88344098delTC ENST00000302174.4 + 1 364_365 c.40_41delTC c.(40-42)tfs p.S14fs NUDT9_ENST00000473942.1_Intron NM_024047.4 NP_076952.1 Q9BW91 NUDT9_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 9 14 mitochondrion ADP-ribose diphosphatase activity endometrium(1)|large_intestine(4)|lung(6) 11 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.000937) AGCCGCGGTGTCTCTCTCTCTG 0.649 7 717 --- --- --- --- MMRN1 22915 broad.mit.edu 37 4 90844391 90844393 + In_Frame_Del DEL AGC AGC - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr4:90844391_90844393delAGC ENST00000394980.1 + 5 1242_1244 c.923_925delAGC c.(922-927)gag>g p.EQ308del MMRN1_ENST00000264790.2_In_Frame_Del_p.EQ308del|MMRN1_ENST00000508372.1_In_Frame_Del_p.EQ50del|MMRN1_ENST00000394981.1_In_Frame_Del_p.EQ274del Q13201 MMRN1_HUMAN multimerin 1 308 cell adhesion|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2) 72 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;6.96e-05) GGAGTAGCTGAGCAGCAGCAGCA 0.448 7 1788 --- --- --- --- LEF1 51176 broad.mit.edu 37 4 109088884 109088884 + Frame_Shift_Del DEL C C - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr4:109088884delC ENST00000379951.2 - 1 1228 c.40delG c.(40-42)acfs p.D14fs LEF1-AS1_ENST00000436413.1_RNA|LEF1_ENST00000265165.1_Frame_Shift_Del_p.D14fs|LEF1_ENST00000438313.2_Frame_Shift_Del_p.D14fs NM_001130713.2|NM_001130714.2 NP_001124185.1|NP_001124186.1 Q9UJU2 LEF1_HUMAN lymphoid enhancer-binding factor 1 14 Asp/Glu-rich (acidic).|CTNNB1-binding (By similarity). canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation cytoplasm|protein-DNA complex|transcription factor complex armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1) 25 OV - Ovarian serous cystadenocarcinoma(123;0.000224) AGTTCCGGGTCCCCCCCGCCG 0.637 7 1136 --- --- --- --- ADAD1 132612 broad.mit.edu 37 4 123302211 123302211 + Frame_Shift_Del DEL A A - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr4:123302211delA ENST00000296513.2 + 4 422 c.237delA c.(235-237)ccfs p.P79fs ADAD1_ENST00000388725.2_Frame_Shift_Del_p.P61fs|ADAD1_ENST00000388724.2_Frame_Shift_Del_p.P79fs|ADAD1_ENST00000492454.1_3'UTR NM_139243.3 NP_640336.1 Q96M93 ADAD1_HUMAN adenosine deaminase domain containing 1 (testis-specific) 79 multicellular organismal development|RNA processing nucleus adenosine deaminase activity|double-stranded RNA binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 35 TCCTTCCTCCAAAAAAAATAC 0.358 16 443 --- --- --- --- LRBA 987 broad.mit.edu 37 4 151509211 151509211 + Frame_Shift_Del DEL T T - rs34237929 TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr4:151509211delT ENST00000535741.1 - 40 6792 c.6319delA c.(6319-6321)tcfs p.I2107fs LRBA_ENST00000357115.3_Frame_Shift_Del_p.I2118fs|LRBA_ENST00000507224.1_Frame_Shift_Del_p.I2107fs|LRBA_ENST00000510413.1_Frame_Shift_Del_p.I2107fs P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and anchor containing 2118 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 all_hematologic(180;0.151) TTGGGGTCGATTTTTTTGAAG 0.453 8 1458 --- --- --- --- HMGB2 3148 broad.mit.edu 37 4 174253277 174253279 + In_Frame_Del DEL TCC TCC - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr4:174253277_174253279delTCC ENST00000296503.5 - 5 1455_1457 c.582_584delGGA c.(580-585)gaa>ga p.EE196del HMGB2_ENST00000438704.2_In_Frame_Del_p.EE196del|HMGB2_ENST00000446922.2_In_Frame_Del_p.EE196del P26583 HMGB2_HUMAN high mobility group box 2 196 Asp/Glu-rich (acidic). base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding p.E194E(1) endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3) 14 Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122) all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249) atcttcttcttcctcctcctcct 0.468 16 578 --- --- --- --- TENM3 55714 broad.mit.edu 37 4 183609359 183609359 + Frame_Shift_Del DEL G G - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr4:183609359delG ENST00000511685.1 + 12 2199 c.2076delG c.(2074-2076)atfs p.M692fs TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Frame_Shift_Del_p.M692fs teneurin transmembrane protein 3 GCGTTTGCATGGGGGGGACGT 0.592 8 1351 --- --- --- --- SORBS2 8470 broad.mit.edu 37 4 186544620 186544622 + In_Frame_Del DEL GGT GGT - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr4:186544620_186544622delGGT ENST00000431808.1 - 14 2512_2514 c.1949_1951delACC c.(1948-1953)cgc>c p.HR650del SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000355634.5_In_Frame_Del_p.HR750del|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000284776.7_In_Frame_Del_p.HR650del|SORBS2_ENST00000418609.1_In_Frame_Del_p.HR554del|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron O94875 SRBS2_HUMAN sorbin and SH3 domain containing 2 650 His-rich. actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1) 53 all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244) OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205) ATGAggtggcggtggtggtggtg 0.522 12 447 --- --- --- --- CDH10 1008 broad.mit.edu 37 5 24511437 24511437 + Splice_Site DEL T T - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr5:24511437delT ENST00000264463.4 - 6 1508 c.1002_splice c.e6+1 p.K334_splice NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 334 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) GCTGTGCACCTTTTTCACAGT 0.403 HNSCC(23;0.051) 7 1028 --- --- --- --- MRPS30 10884 broad.mit.edu 37 5 44815246 44815255 + Frame_Shift_Del DEL TAGTTCACTT TAGTTCACTT - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr5:44815246_44815255delTAGTTCACTT ENST00000507110.1 + 5 1300_1309 c.1262_1271delTAGTTCACTT c.(1261-1272)atfs p.IVHF421fs NM_016640.3 NP_057724.2 Q9NP92 RT30_HUMAN mitochondrial ribosomal protein S30 421 apoptosis|translation mitochondrion|ribosome structural constituent of ribosome central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1) 20 Lung NSC(6;8.08e-07) CTACTTCAGATAGTTCACTTTCTACTGAAT 0.319 23 215 --- --- --- --- JMY 133746 broad.mit.edu 37 5 78610476 78610478 + In_Frame_Del DEL CCA CCA - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr5:78610476_78610478delCCA ENST00000396137.4 + 9 2923_2925 c.2461_2463delCCA c.(2461-2463)del p.P825del JMY_ENST00000412001.1_Intron NM_152405.4 NP_689618.4 Q8N9B5 JMY_HUMAN junction mediating and regulatory protein, p53 cofactor 825 Pro-rich. 'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter cell leading edge|cytoplasm|cytoskeleton|nucleus actin binding|transcription coactivator activity endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1) 16 all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191) OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35) tccccctcccccaccaccaccac 0.537 9 384 --- --- --- --- THBS4 7060 broad.mit.edu 37 5 79355567 79355567 + Frame_Shift_Del DEL C C - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr5:79355567delC ENST00000350881.2 + 7 1016 c.826delC c.(826-828)ccfs p.P277fs THBS4_ENST00000511733.1_Frame_Shift_Del_p.P186fs|CTD-2201I18.1_ENST00000503007.1_RNA NM_003248.4 NP_003239.2 P35443 TSP4_HUMAN thrombospondin 4 277 endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation basement membrane|extracellular space calcium ion binding|heparin binding|integrin binding|structural molecule activity breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3) 34 Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34) CACGGTGGTGCCCCCGGCTCC 0.562 8 1536 --- --- --- --- MEGF10 84466 broad.mit.edu 37 5 126792989 126792991 + In_Frame_Del DEL CAG CAG - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr5:126792989_126792991delCAG ENST00000274473.6 + 26 3669_3671 c.3402_3404delCAG c.(3400-3405)aac>aa p.NS1134del MEGF10_ENST00000503335.2_In_Frame_Del_p.NS1134del NM_032446.2 NP_115822.1 Q96KG7 MEG10_HUMAN multiple EGF-like-domains 10 1134 Necessary for formation of large intracellular vacuoles.|Ser-rich. cell adhesion|phagocytosis basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123) gcagcagcaacagcagcagcagc 0.512 7 326 --- --- --- --- HNRNPA0 10949 broad.mit.edu 37 5 137088929 137088931 + In_Frame_Del DEL CCG CCG - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr5:137088929_137088931delCCG ENST00000314940.4 - 1 1108_1110 c.825_827delCGG c.(823-828)ggt>gg p.GG277del NM_006805.3 NP_006796.1 Q13151 ROA0_HUMAN heterogeneous nuclear ribonucleoprotein A0 277 Gly-rich. nuclear mRNA splicing, via spliceosome heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|RNA binding p.G275G(1) large_intestine(1)|lung(2)|skin(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) ACTgcctccaccgccgccgccgc 0.626 7 213 --- --- --- --- EGR1 1958 broad.mit.edu 37 5 137801633 137801635 + In_Frame_Del DEL CAG CAG - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr5:137801633_137801635delCAG ENST00000239938.4 + 1 455_457 c.183_185delCAG c.(181-186)aac>aa p.NS61del NM_001964.2 NP_001955.1 P18146 EGR1_HUMAN early growth response 1 61 Gly/Ser-rich. cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytoplasm|nucleus histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) gcggcagcaacagcagcagcagc 0.700 11 257 --- --- --- --- IK 3550 broad.mit.edu 37 5 140032593 140032594 + Frame_Shift_Del DEL GA GA - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr5:140032593_140032594delGA ENST00000417647.2 + 5 407_408 c.268_269delGA c.(268-270)gfs p.E90fs IK_ENST00000523672.1_3'UTR NM_006083.3 NP_006074.2 Q13123 RED_HUMAN IK cytokine, down-regulator of HLA II 90 cell-cell signaling|immune response extracellular space|nucleus|soluble fraction large_intestine(1) 1 all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACAAGAAATTGAGAGAGAGAGA 0.460 10 293 --- --- --- --- CPLX2 10814 broad.mit.edu 37 5 175306965 175306967 + In_Frame_Del DEL GAG GAG - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr5:175306965_175306967delGAG ENST00000359546.4 + 5 965_967 c.322_324delGAG c.(322-324)del p.E114del CPLX2_ENST00000393745.3_In_Frame_Del_p.E114del|CPLX2_ENST00000515094.1_In_Frame_Del_p.E114del NM_001008220.1|NM_006650.3 NP_001008221.1|NP_006641.1 Q6PUV4 CPLX2_HUMAN complexin 2 114 mast cell degranulation|positive regulation of synaptic plasticity|vesicle docking involved in exocytosis cytosol endometrium(3)|kidney(2)|lung(3)|ovary(2) 10 all_cancers(89;0.004)|Renal(175;0.000269)|Lung NSC(126;0.00441)|all_lung(126;0.00747) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) CTGCGGGGACGAGGAGGAGGAGG 0.645 9 208 --- --- --- --- CANX 821 broad.mit.edu 37 5 179149920 179149920 + Frame_Shift_Del DEL T T - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr5:179149920delT ENST00000247461.4 + 11 1498 c.1298delT c.(1297-1299)atfs p.I433fs CANX_ENST00000512607.2_Frame_Shift_Del_p.I325fs|CANX_ENST00000504734.1_Frame_Shift_Del_p.I433fs|CANX_ENST00000415618.2_Frame_Shift_Del_p.I468fs|CANX_ENST00000452673.2_Frame_Shift_Del_p.I433fs NM_001746.3 NP_001737.1 P27824 CALX_HUMAN calnexin 433 SDI -> LTF (in Ref. 9; AAA35696). post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein secretion endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome calcium ion binding|sugar binding|unfolded protein binding breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3) 22 all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218) all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031) ACCTCTGACATTTTTTTTGAC 0.423 7 580 --- --- --- --- CTC-338M12.9 0 broad.mit.edu 37 5 180708659 180708659 + RNA DEL G G - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr5:180708659delG ENST00000412295.2 + 0 238 AGCGGTAGGAGgggggctgga 0.711 11 118 --- --- --- --- ATXN1 6310 broad.mit.edu 37 6 16327900 16327901 + In_Frame_Ins INS - - TGC rs66949327 TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr6:16327900_16327901insTGC ENST00000244769.4 - 8 1577_1578 c.641_642insGCA c.(640-642)cca>cGCAca p.214_214P>RT ATXN1_ENST00000436367.1_In_Frame_Ins_p.214_214P>RT NM_000332.3 NP_000323.2 P54253 ATX1_HUMAN ataxin 1 214 Poly-Gln. cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2) 44 Breast(50;0.063)|Ovarian(93;0.0733) all_hematologic(90;0.000682)|Ovarian(999;0.00973) gctgctgctgctgctgctgatg 0.668 8 134 --- --- --- --- DEK 7913 broad.mit.edu 37 6 18264079 18264081 + In_Frame_Del DEL TCC TCC - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr6:18264079_18264081delTCC ENST00000397239.3 - 2 585_587 c.138_140delGGA c.(136-141)gaa>ga p.EE46del DEK_ENST00000244776.7_In_Frame_Del_p.EE46del NM_003472.3 NP_003463.1 P35659 DEK_HUMAN DEK oncogene 46 Asp/Glu-rich (highly acidic). chromatin modification|regulation of transcription from RNA polymerase II promoter|signal transduction|transcription from RNA polymerase II promoter|viral genome replication nucleus DNA binding|histone binding endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 7 Ovarian(93;0.00769)|Breast(50;0.0495) all_hematologic(90;0.053) OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332) CCCACCTTTTtcctcctcctcct 0.532 T NUP214 AML 9 499 --- --- --- --- HIST1H1E 3008 broad.mit.edu 37 6 26157161 26157161 + Frame_Shift_Del DEL A A - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr6:26157161delA ENST00000304218.3 + 1 603 c.543delA c.(541-543)ccfs p.P181fs NM_005321.2 NP_005312.1 P10412 H14_HUMAN histone cluster 1, H1e 181 nucleosome assembly nucleosome|nucleus DNA binding|protein binding NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 26 CAGCCAAGCCAAAAAAGGCGC 0.567 7 190 --- --- --- --- SLC26A8 116369 broad.mit.edu 37 6 35912065 35912065 + Frame_Shift_Del DEL T T - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr6:35912065delT ENST00000490799.1 - 20 2878 c.2525delA c.(2524-2526)atfs p.N842fs SLC26A8_ENST00000355574.2_Frame_Shift_Del_p.N842fs|SLC26A8_ENST00000394602.2_Frame_Shift_Del_p.N737fs NM_052961.3 NP_443193.1 Q96RN1 S26A8_HUMAN solute carrier family 26 (anion exchanger), member 8 842 Interaction with RACGAP1. cell differentiation|meiosis|multicellular organismal development|spermatogenesis integral to membrane|plasma membrane anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 46 TGGACTTACATTTTTTTGGCT 0.398 10 684 --- --- --- --- DNAH8 1769 broad.mit.edu 37 6 38816440 38816440 + Frame_Shift_Del DEL A A - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr6:38816440delA ENST00000359357.3 + 35 4665 c.4411delA c.(4411-4413)aafs p.K1472fs DNAH8_ENST00000449981.2_Frame_Shift_Del_p.K1689fs|DNAH8_ENST00000441566.1_Frame_Shift_Del_p.K1472fs dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 TGCTCCATTTAAAAAAAATAT 0.343 7 312 --- --- --- --- CNPY3 10695 broad.mit.edu 37 6 42897358 42897360 + In_Frame_Del DEL TGC TGC - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr6:42897358_42897360delTGC ENST00000372836.4 + 1 421_423 c.50_52delTGC c.(49-54)ttg>t p.LL23del CNPY3_ENST00000394142.3_In_Frame_Del_p.LL23del NM_006586.3 NP_006577.2 Q9BT09 CNPY3_HUMAN canopy FGF signaling regulator 3 23 innate immune response endoplasmic reticulum p.L25delL(1) central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1) 6 Colorectal(47;0.196) all cancers(41;0.000954)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388) CTTCTTCCCTtgctgctgctgct 0.695 7 48 --- --- --- --- GSTA1 2938 broad.mit.edu 37 6 52664097 52664100 + Splice_Site DEL TGAA TGAA - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr6:52664097_52664100delTGAA ENST00000334575.5 - 2 126 c.e2-2 NM_145740.3 NP_665683.1 P08263 GSTA1_HUMAN glutathione S-transferase alpha 1 glutathione metabolic process|xenobiotic metabolic process cytosol glutathione transferase activity large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 12 Lung NSC(77;0.118) Amsacrine(DB00276)|Busulfan(DB01008)|Glutathione(DB00143) TCTCTAAGCCtgaatgaatgaatg 0.431 8 363 --- --- --- --- HCRTR2 3062 broad.mit.edu 37 6 55039411 55039411 + Frame_Shift_Del DEL C C - rs76774128 TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr6:55039411delC ENST00000370862.3 + 1 362 c.26delC c.(25-27)tcfs p.S9fs NM_001526.3 NP_001517.2 O43614 OX2R_HUMAN hypocretin (orexin) receptor 2 9 feeding behavior integral to plasma membrane neuropeptide receptor activity p.P11fs*11(1) breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 Lung NSC(77;0.107)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) TTGGAGGACTCCCCCCCTTGT 0.567 8 1127 --- --- --- --- COL12A1 1303 broad.mit.edu 37 6 75899298 75899298 + Frame_Shift_Del DEL T T - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr6:75899298delT ENST00000322507.8 - 6 937 c.628delA c.(628-630)ttfs p.I210fs COL12A1_ENST00000483888.2_Frame_Shift_Del_p.I210fs|COL12A1_ENST00000416123.2_Frame_Shift_Del_p.I210fs|COL12A1_ENST00000345356.6_Intron NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 210 VWFA 1. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 TTATATGGAATTTTTTTTATT 0.323 10 805 --- --- --- --- CASP8AP2 9994 broad.mit.edu 37 6 90556398 90556398 + RNA DEL T T - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr6:90556398delT ENST00000551025.1 + 0 1492 Q9UKL3 C8AP2_HUMAN caspase 8 associated protein 2 cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent cytoplasm|nucleus caspase activator activity|death receptor binding|transcription corepressor activity NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2) 51 all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0953) TCTAAtttccttttttttttt 0.418 10 46 --- --- --- --- MAP3K4 4216 broad.mit.edu 37 6 161469776 161469776 + Frame_Shift_Del DEL A A - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr6:161469776delA ENST00000392142.4 + 3 620 c.472delA c.(472-474)aafs p.K159fs MAP3K4_ENST00000366920.2_Frame_Shift_Del_p.K159fs|MAP3K4_ENST00000446500.1_3'UTR|MAP3K4_ENST00000348824.7_Frame_Shift_Del_p.K159fs|MAP3K4_ENST00000366919.2_Frame_Shift_Del_p.K159fs NM_005922.2 NP_005913.2 Q9Y6R4 M3K4_HUMAN mitogen-activated protein kinase kinase kinase 4 159 activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity perinuclear region of cytoplasm ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding p.N160fs*8(2) breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1) 77 Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771) OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05) GCGTGATCGTAAAAAAAATGT 0.403 11 663 --- --- --- --- CARD11 84433 broad.mit.edu 37 7 2963941 2963943 + In_Frame_Del DEL GGA GGA - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr7:2963941_2963943delGGA ENST00000396946.4 - 15 2267_2269 c.1864_1866delTCC c.(1864-1866)del p.S622del NM_032415.4 NP_115791.3 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 622 positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) CGGATTGGTGGGAGGAGGAGGAG 0.616 Mis DLBCL 8 605 --- --- --- --- HOXA1 3198 broad.mit.edu 37 7 27135314 27135316 + In_Frame_Del DEL CGA CGA - rs10951154 byFrequency TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr7:27135314_27135316delCGA ENST00000343060.4 - 1 277_279 c.216_218delTCG c.(214-219)cac>ca p.HR72del HOTAIRM1_ENST00000495032.1_RNA|HOXA1_ENST00000355633.5_In_Frame_Del_p.HR72del NM_005522.4 NP_005513.1 P49639 HXA1_HUMAN homeobox A1 72 Poly-His. nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Ctgggggtggcgatggtggtggt 0.650 OREG0003750 type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 15 588 --- --- --- --- TRGC1 0 broad.mit.edu 37 7 38301855 38301856 + RNA DEL GT GT - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr7:38301855_38301856delGT ENST00000443402.2 - 0 330 NM_001003799.1|NM_001003806.1 NP_001003799.1|NP_001003806.1 TCAATTGTTCGTGTGTGTGTGT 0.356 20 865 --- --- --- --- AEBP1 165 broad.mit.edu 37 7 44153778 44153780 + In_Frame_Del DEL AGA AGA - rs13928 byFrequency TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr7:44153778_44153780delAGA ENST00000223357.3 + 21 3700_3702 c.3395_3397delAGA c.(3394-3399)gaa>g p.EK1132del AEBP1_ENST00000450684.2_In_Frame_Del_p.EK707del NM_001129.3 NP_001120.3 Q8IUX7 AEBP1_HUMAN AE binding protein 1 1132 Glu-rich.|Interaction with MAPK1 and MAPK3 (By similarity).|Required for transcriptional repression (By similarity). cell adhesion|muscle organ development|proteolysis|skeletal system development cytoplasm|extracellular space|nucleus DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2) 33 gaggaggaggagaaagaggagga 0.552 7 439 --- --- --- --- ABCA13 154664 broad.mit.edu 37 7 48318519 48318519 + Frame_Shift_Del DEL A A - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr7:48318519delA ENST00000435803.1 + 18 7752 c.7728delA c.(7726-7728)ttfs p.L2576fs NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 2576 transport integral to membrane ATP binding|ATPase activity p.L2576F(3)|p.L2521F(2) breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 TAGCTACTTTAAAAAAAATAG 0.313 7 574 --- --- --- --- GTF2IRD2P1 0 broad.mit.edu 37 7 72664015 72664016 + RNA INS - - G TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr7:72664015_72664016insG ENST00000425256.1 - 0 884_885 NR_002164.1 ATACCACCCCCGGGGCATGCCA 0.505 7 115 --- --- --- --- DTX2 113878 broad.mit.edu 37 7 76112249 76112249 + Frame_Shift_Del DEL A A - rs147779783 byFrequency TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr7:76112249delA ENST00000324432.5 + 5 1203 c.693delA c.(691-693)ccfs p.P231fs DTX2_ENST00000446820.2_Frame_Shift_Del_p.P231fs|DTX2_ENST00000430490.2_Frame_Shift_Del_p.P231fs|DTX2_ENST00000413936.2_Frame_Shift_Del_p.P231fs|DTX2_ENST00000307569.8_Frame_Shift_Del_p.P231fs|DTX2_ENST00000446600.1_Frame_Shift_Del_p.P140fs NM_020892.2 NP_065943.2 Q86UW9 DTX2_HUMAN deltex homolog 2 (Drosophila) 231 Notch signaling pathway cytoplasm|nucleus protein binding|zinc ion binding NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2) 27 AGCACCCCCCACACAGGACCG 0.657 8 2307 --- --- --- --- RSBN1L 222194 broad.mit.edu 37 7 77326220 77326222 + In_Frame_Del DEL CCG CCG - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr7:77326220_77326222delCCG ENST00000334955.7 + 1 461_463 c.434_436delCCG c.(433-438)ccc>c p.PA145del NM_198467.2 NP_940869.2 Q6PCB5 RSBNL_HUMAN round spermatid basic protein 1-like 145 nucleus central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 CTCCTCCTGCCCGCCGCCGCCGC 0.685 7 261 --- --- --- --- STEAP2 261729 broad.mit.edu 37 7 89856465 89856465 + Frame_Shift_Del DEL T T - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr7:89856465delT ENST00000287908.3 + 3 1066 c.673delT c.(673-675)ttfs p.F227fs STEAP2_ENST00000394622.2_Frame_Shift_Del_p.F227fs|STEAP2_ENST00000394629.2_Frame_Shift_Del_p.F227fs|STEAP2_ENST00000394632.1_Frame_Shift_Del_p.F227fs|STEAP2_ENST00000394621.2_Frame_Shift_Del_p.F227fs|STEAP2_ENST00000402625.2_Frame_Shift_Del_p.F227fs|STEAP2_ENST00000394626.1_Frame_Shift_Del_p.F227fs NM_001244944.1|NM_152999.3 NP_001231873.1|NP_694544.2 Q8NFT2 STEA2_HUMAN STEAP family member 2, metalloreductase 227 electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1) 15 all_hematologic(106;0.112) CTTGGCCACATTTTTTTTCCT 0.393 7 461 --- --- --- --- CASD1 64921 broad.mit.edu 37 7 94174999 94174999 + Frame_Shift_Del DEL A A - rs74907120 TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr7:94174999delA ENST00000297273.4 + 12 1906 c.1619delA c.(1618-1620)cafs p.Q540fs NM_022900.4 NP_075051.4 Q96PB1 CASD1_HUMAN CAS1 domain containing 1 540 integral to membrane NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1) 31 all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215) STAD - Stomach adenocarcinoma(171;0.0031) CAAATAATCCAAAAAAAAGCA 0.294 7 184 --- --- --- --- PTCD1 26024 broad.mit.edu 37 7 99032605 99032607 + In_Frame_Del DEL CTC CTC - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr7:99032605_99032607delCTC ENST00000292478.4 - 2 509_511 c.259_261delGAG c.(259-261)del p.E87del ATP5J2-PTCD1_ENST00000413834.1_In_Frame_Del_p.E136del|PTCD1_ENST00000485746.1_5'UTR|PTCD1_ENST00000555673.1_In_Frame_Del_p.E136del NM_015545.3 NP_056360.2 pentatricopeptide repeat domain 1 p.E87K(1) endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1) 27 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) STAD - Stomach adenocarcinoma(171;0.215) TCCCAAAACTCTCCTCCTCCTCC 0.606 11 943 --- --- --- --- GIGYF1 64599 broad.mit.edu 37 7 100281686 100281688 + In_Frame_Del DEL GCT GCT - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr7:100281686_100281688delGCT ENST00000275732.5 - 15 3032_3034 c.1823_1825delAGC c.(1822-1827)ctc>c p.QL608del NM_022574.4 NP_072096.2 O75420 PERQ1_HUMAN GRB10 interacting GYF protein 1 608 Gln-rich.|Poly-Gln. central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) AATGCCGTGAGCTGCTGCTGCTG 0.690 7 197 --- --- --- --- GIGYF1 64599 broad.mit.edu 37 7 100283635 100283637 + In_Frame_Del DEL TCC TCC - rs142340746 TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr7:100283635_100283637delTCC ENST00000275732.5 - 9 2223_2225 c.1014_1016delGGA c.(1012-1017)gaa>ga p.EE338del GIGYF1_ENST00000471340.2_Intron NM_022574.4 NP_072096.2 O75420 PERQ1_HUMAN GRB10 interacting GYF protein 1 338 Poly-Glu. central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) TTCGGAAGGTTCCTCCTCCTCCT 0.675 7 416 --- --- --- --- ZAN 7455 broad.mit.edu 37 7 100361581 100361581 + RNA DEL G G - rs3215394 TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr7:100361581delG ENST00000542585.1 + 0 4245 ZAN_ENST00000546213.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) GGCGATGCTTGGCACCTGGGC 0.627 14 545 --- --- --- --- SRRT 51593 broad.mit.edu 37 7 100479332 100479332 + Frame_Shift_Del DEL G G - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr7:100479332delG ENST00000388793.4 + 4 524 c.304delG c.(304-306)ggfs p.G106fs SRRT_ENST00000432932.1_Frame_Shift_Del_p.G106fs|SRRT_ENST00000457580.2_Frame_Shift_Del_p.G106fs|SRRT_ENST00000347433.4_Frame_Shift_Del_p.G106fs NM_001128852.1|NM_015908.5 NP_001122324.1|NP_056992.4 Q9BXP5 SRRT_HUMAN serrate RNA effector molecule homolog (Arabidopsis) 106 G -> GG (in Ref. 3; CAB46374). cell proliferation|primary miRNA processing|response to arsenic-containing substance cytoplasm|nucleoplasm protein binding p.G104fs*45(1) breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 GCCCTATGCTGGGGGGGGTGG 0.607 10 420 --- --- --- --- SRRT 51593 broad.mit.edu 37 7 100482040 100482042 + In_Frame_Del DEL AGG AGG - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr7:100482040_100482042delAGG ENST00000388793.4 + 7 1029_1031 c.809_811delAGG c.(808-813)cag>c p.QE270del SRRT_ENST00000432932.1_In_Frame_Del_p.QE270del|SRRT_ENST00000457580.2_In_Frame_Del_p.QE270del|SRRT_ENST00000347433.4_In_Frame_Del_p.QE270del NM_001128852.1|NM_015908.5 NP_001122324.1|NP_056992.4 Q9BXP5 SRRT_HUMAN serrate RNA effector molecule homolog (Arabidopsis) 270 Glu-rich. cell proliferation|primary miRNA processing|response to arsenic-containing substance cytoplasm|nucleoplasm protein binding breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 ATCCTGGAGCAGGAGGAGGAGGA 0.596 12 190 --- --- --- --- SRPK2 6733 broad.mit.edu 37 7 104844170 104844172 + In_Frame_Del DEL GGT GGT - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr7:104844170_104844172delGGT ENST00000357311.3 - 2 270_272 c.99_101delACC c.(97-102)ccg>cc p.PP35del SRPK2_ENST00000393651.3_In_Frame_Del_p.PP46del|SRPK2_ENST00000489828.1_In_Frame_Del_p.PP35del NM_001278273.1|NM_182691.1 NP_001265202.1|NP_872633.1 P78362 SRPK2_HUMAN SRSF protein kinase 2 35 angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly cytoplasm|nucleolus 14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.P33P(1) NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 35 CAAAggtggcggtggtggtggtg 0.552 8 192 --- --- --- --- FOXP2 93986 broad.mit.edu 37 7 114271580 114271582 + Splice_Site DEL CAG CAG - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr7:114271580_114271582delCAG ENST00000393500.3 + 12 1192 c.e12-1 FOXP2_ENST00000350908.4_Splice_Site|FOXP2_ENST00000403559.4_Splice_Site|FOXP2_ENST00000378237.3_Splice_Site|FOXP2_ENST00000393489.3_Splice_Site|FOXP2_ENST00000393491.3_Splice_Site|FOXP2_ENST00000390668.3_Splice_Site|FOXP2_ENST00000393494.2_Splice_Site|FOXP2_ENST00000408937.3_Splice_Site|FOXP2_ENST00000393498.2_Intron|FOXP2_ENST00000360232.4_Splice_Site O15409 FOXP2_HUMAN forkhead box P2 camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding p.?(3) breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 TTTCTGATACcagcagcagcagc 0.512 8 64 --- --- --- --- WASL 8976 broad.mit.edu 37 7 123332839 123332841 + In_Frame_Del DEL AGG AGG - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr7:123332839_123332841delAGG ENST00000223023.4 - 9 1239_1241 c.907_909delCCT c.(907-909)del p.P303del NM_003941.2 NP_003932.3 O00401 WASL_HUMAN Wiskott-Aldrich syndrome-like 303 Pro-rich. actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent actin cytoskeleton|cytosol|nucleolus|plasma membrane actin binding|small GTPase regulator activity p.P303A(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 TTCCCCTagcaggaggaggagga 0.616 13 680 --- --- --- --- WASL 8976 broad.mit.edu 37 7 123332873 123332875 + In_Frame_Del DEL GGA GGA - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr7:123332873_123332875delGGA ENST00000223023.4 - 9 1205_1207 c.873_875delTCC c.(871-876)ccc>cc p.PP293del NM_003941.2 NP_003932.3 O00401 WASL_HUMAN Wiskott-Aldrich syndrome-like 293 Pro-rich. actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent actin cytoskeleton|cytosol|nucleolus|plasma membrane actin binding|small GTPase regulator activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 gtgtggagggggaggaggaggag 0.567 7 671 --- --- --- --- FLNC 2318 broad.mit.edu 37 7 128486812 128486812 + Frame_Shift_Del DEL G G - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr7:128486812delG ENST00000325888.8 + 24 4402 c.4141delG c.(4141-4143)ggfs p.G1382fs FLNC_ENST00000346177.6_Frame_Shift_Del_p.G1382fs NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 1382 cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 AGCGGGCACCGGGGGCCTTGG 0.587 8 503 --- --- --- --- PRSS3P2 0 broad.mit.edu 37 7 142481996 142481997 + RNA INS - - C TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr7:142481996_142481997insC ENST00000603901.1 + 0 591 NR_001296.3 TCCCAAGGTGGGGGGCTGAGGA 0.564 21 176 --- --- --- --- KIAA1967 0 broad.mit.edu 37 8 22472975 22472975 + Frame_Shift_Del DEL C C - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr8:22472975delC ENST00000308511.4 + 12 1492 c.1243delC c.(1243-1245)ccfs p.P416fs RP11-582J16.5_ENST00000521025.1_RNA|KIAA1967_ENST00000520861.1_Frame_Shift_Del_p.P91fs|KIAA1967_ENST00000389279.3_Frame_Shift_Del_p.P416fs Q8N163 K1967_HUMAN 416 apoptosis|positive regulation of apoptosis mitochondrial matrix|nucleus enzyme binding|enzyme inhibitor activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(5) 25 Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142) BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064) GCAGCCGGGACCCCCCCGGCG 0.582 8 895 --- --- --- --- PXDNL 137902 broad.mit.edu 37 8 52359596 52359596 + Frame_Shift_Del DEL T T - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr8:52359596delT ENST00000356297.4 - 12 1593 c.1493delA c.(1492-1494)agfs p.K498fs PXDNL_ENST00000543296.1_Frame_Shift_Del_p.K498fs NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 498 Ig-like C2-type 3. hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) CACAGACACCTTTTTCACCCC 0.448 7 1350 --- --- --- --- TOX 9760 broad.mit.edu 37 8 59750796 59750798 + In_Frame_Del DEL CTT CTT - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr8:59750796_59750798delCTT ENST00000361421.1 - 5 986_988 c.766_768delAAG c.(766-768)del p.K256del NM_014729.2 NP_055544.1 O94900 TOX_HUMAN thymocyte selection-associated high mobility group box 256 nucleus DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1) 33 all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607) CATTGGGATCCTTCTTCTTCTTC 0.453 17 987 --- --- --- --- NCOA2 10499 broad.mit.edu 37 8 71071800 71071803 + Frame_Shift_Del DEL AGTT AGTT - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr8:71071800_71071803delAGTT ENST00000452400.2 - 10 1242_1245 c.1061_1064delAACT c.(1060-1065)acfs p.KL354fs NM_006540.2 NP_006531.1 Q15596 NCOA2_HUMAN nuclear receptor coactivator 2 354 cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity PAX3/NCOA2(4)|HEY1/NCOA2(10) NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4) 60 Breast(64;0.201) Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606) AGAACGGATGAGTTTGCTCTTCGT 0.402 T """RUNXBP2, HEY1""" """AML, Chondrosarcoma""" 191 732 --- --- --- --- RP11-586K2.1 0 broad.mit.edu 37 8 89498121 89498122 + RNA INS - - A TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr8:89498121_89498122insA ENST00000521433.1 + 0 179 RP11-586K2.1_ENST00000523254.1_RNA gaacagctatgaaaaaaaaaac 0.386 7 54 --- --- --- --- SLC26A7 115111 broad.mit.edu 37 8 92406218 92406218 + Frame_Shift_Del DEL T T - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr8:92406218delT ENST00000276609.3 + 18 2125 c.1886delT c.(1885-1887)atfs p.I629fs SLC26A7_ENST00000309536.2_Frame_Shift_Del_p.I629fs|SLC26A7_ENST00000523719.1_Frame_Shift_Del_p.I629fs|SLC26A7_ENST00000520249.1_3'UTR NM_052832.2 NP_439897.1 Q8TE54 S26A7_HUMAN solute carrier family 26 (anion exchanger), member 7 629 STAS. basolateral plasma membrane|integral to membrane|recycling endosome membrane anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 50 BRCA - Breast invasive adenocarcinoma(11;0.00802) GAGAAACCAATTTTTTTTGAA 0.343 9 500 --- --- --- --- TP53INP1 0 broad.mit.edu 37 8 95952409 95952411 + In_Frame_Del DEL TCT TCT - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr8:95952409_95952411delTCT ENST00000342697.4 - 3 557_559 c.150_152delAGA c.(148-153)gag>ga p.EE50del TP53INP1_ENST00000378776.4_In_Frame_Del_p.EE50del|NDUFAF6_ENST00000396113.1_Intron|TP53INP1_ENST00000448464.2_In_Frame_Del_p.EE50del NM_033285.3 NP_150601.1 Q96A56 T53I1_HUMAN tumor protein p53 inducible nuclear protein 1 50 Glu-rich. apoptosis PML body p.E50E(1) kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 9 Breast(36;8.75e-07) GATGTCCTCCTCTTCTTCTTCTT 0.458 13 385 --- --- --- --- PABPC1 26986 broad.mit.edu 37 8 101724994 101724995 + Frame_Shift_Ins INS - - A rs140822921 by1000genomes TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr8:101724994_101724995insA ENST00000318607.5 - 6 1889_1890 c.761_762insT c.(760-762)agafs p.R254fs PABPC1_ENST00000522387.1_Frame_Shift_Ins_p.R222fs|PABPC1_ENST00000519596.1_5'UTR|PABPC1_ENST00000519004.1_Frame_Shift_Ins_p.R209fs NM_002568.3 NP_002559.2 P11940 PABP1_HUMAN poly(A) binding protein, cytoplasmic 1 254 CSDE1-binding.|RRM 3. mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation catalytic step 2 spliceosome|cytosol nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1) 40 all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125) Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206) CATTGAGCTCCTTTCCGTTCAT 0.371 8 352 --- --- --- --- TSNARE1 203062 broad.mit.edu 37 8 143310866 143310868 + In_Frame_Del DEL GAT GAT - rs142964918 TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr8:143310866_143310868delGAT ENST00000524325.1 - 13 1691_1693 c.1516_1518delATC c.(1516-1518)del p.I506del TSNARE1_ENST00000307180.3_In_Frame_Del_p.I507del|TSNARE1_ENST00000520166.1_In_Frame_Del_p.I507del Q96NA8 TSNA1_HUMAN t-SNARE domain containing 1 507 Poly-Ile. vesicle-mediated transport integral to membrane breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1) 20 all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) CAGAGGTGGCGATGATGATGATG 0.512 14 532 --- --- --- --- CYP11B2 1585 broad.mit.edu 37 8 143993951 143993953 + In_Frame_Del DEL GCA GCA - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr8:143993951_143993953delGCA ENST00000323110.2 - 8 1393_1395 c.1391_1393delTGC c.(1390-1395)cac>c p.LH464del NM_000498.3 NP_000489.3 P19099 C11B2_HUMAN cytochrome P450, family 11, subfamily B, polypeptide 2 464 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3) 39 all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Candesartan(DB00796)|Metyrapone(DB01011) CTTACGTGGTGCAGCAGCAGCAG 0.685 Familial Hyperaldosteronism type I 8 467 --- --- --- --- ZC3H3 23144 broad.mit.edu 37 8 144522387 144522389 + In_Frame_Del DEL GAG GAG - rs2272753 byFrequency TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr8:144522387_144522389delGAG ENST00000262577.5 - 11 2668_2670 c.2637_2639delCTC c.(2635-2640)tca>tc p.SS879del NM_015117.2 NP_055932.2 Q8IXZ2 ZC3H3_HUMAN zinc finger CCCH-type containing 3 879 Poly-Ser. mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus nucleus nucleic acid binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 23 all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107) Gggaggggatgaggaggaggagg 0.655 14 132 --- --- --- --- SCRIB 23513 broad.mit.edu 37 8 144890900 144890902 + In_Frame_Del DEL TCC TCC - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr8:144890900_144890902delTCC ENST00000356994.2 - 15 1998_2000 c.1992_1994delGGA c.(1990-1995)gaa>ga p.EE664del SCRIB_ENST00000377533.3_In_Frame_Del_p.EE583del|SCRIB_ENST00000320476.3_In_Frame_Del_p.EE664del NM_182706.4 NP_874365.3 Q14160 SCRIB_HUMAN scribbled planar cell polarity protein 664 Glu-rich.|Sufficient for targeting to adherens junction and to inhibit cell proliferation. activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction cell-cell adherens junction|Scrib-APC-beta-catenin complex protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 42 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) actaccctcttcctcctcctcct 0.665 9 339 --- --- --- --- PUF60 22827 broad.mit.edu 37 8 144906520 144906522 + In_Frame_Del DEL GCC GCC - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr8:144906520_144906522delGCC ENST00000526683.1 - 2 627_629 c.72_74delGGC c.(70-75)gca>gc p.AA24del PUF60_ENST00000453551.2_5'UTR|PUF60_ENST00000349157.6_In_Frame_Del_p.AA24del|PUF60_ENST00000456095.2_Intron|PUF60_ENST00000527197.1_Intron|PUF60_ENST00000313352.7_5'UTR NM_001271098.1|NM_078480.1 NP_001258027.1|NP_510965.1 Q9UHX1 PUF60_HUMAN poly-U binding splicing factor 60KDa 24 Inhibits homodimerization. apoptosis|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent nucleus|ribonucleoprotein complex DNA binding|nucleotide binding|protein binding|RNA binding NS(1)|endometrium(1)|kidney(3)|lung(7)|prostate(2) 14 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) tgccaccactgccgccgccgccg 0.690 8 273 --- --- --- --- ADCK5 203054 broad.mit.edu 37 8 145617535 145617549 + Splice_Site DEL GGGGGTGCAAGGTGA GGGGGTGCAAGGTGA - rs11270020 TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr8:145617535_145617549delGGGGGTGCAAGGTGA ENST00000308860.6 + 12 1301_1311 c.1267_splice c.e12+1 p.L419_splice NM_174922.3 NP_777582.3 Q3MIX3 ADCK5_HUMAN aarF domain containing kinase 5 419 Protein kinase. integral to membrane protein serine/threonine kinase activity p.?(2) endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2) 8 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055) CAGCCGCACTGGGGGTGCAAGGTGAGGGGGTGCAA 0.730 9 23 --- --- --- --- KANK1 23189 broad.mit.edu 37 9 732475 732477 + In_Frame_Del DEL GAG GAG - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr9:732475_732477delGAG ENST00000382303.1 + 10 3755_3757 c.3103_3105delGAG c.(3103-3105)del p.E1039del KANK1_ENST00000382297.2_In_Frame_Del_p.E1039del|KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382293.3_In_Frame_Del_p.E881del NM_001256876.1 NP_001243805.1 Q14678 KANK1_HUMAN KN motif and ankyrin repeat domains 1 1039 negative regulation of actin filament polymerization cytoplasm autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1) 43 Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128) Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222) TCTTGAAGAAGAGGAGGAGGAGG 0.463 20 845 --- --- --- --- KIAA0020 9933 broad.mit.edu 37 9 2837296 2837296 + Frame_Shift_Del DEL T T - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr9:2837296delT ENST00000397885.2 - 3 394 c.188delA c.(187-189)agfs p.K63fs NM_014878.4 NP_055693.4 Q15397 K0020_HUMAN KIAA0020 63 endoplasmic reticulum|nucleolus RNA binding NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1) 21 GBM - Glioblastoma multiforme(50;0.0319) CTTTACACCCTTTTTCCCAAG 0.388 8 1292 --- --- --- --- MLLT3 4300 broad.mit.edu 37 9 20414377 20414379 + In_Frame_Del DEL CTG CTG - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr9:20414377_20414379delCTG ENST00000380338.4 - 5 751_753 c.465_467delCAG c.(463-468)agt>ag p.SS189del MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_In_Frame_Del_p.SS186del|MLLT3_ENST00000475957.1_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 189 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S155S(4) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) gctgctgctactgctgctgctgc 0.532 T MLL ALL 20 265 --- --- --- --- CDKN2A 1029 broad.mit.edu 37 9 21971143 21971144 + Frame_Shift_Ins INS - - A TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr9:21971143_21971144insA ENST00000579755.1 - 2 549_550 c.257_258insT c.(256-258)ccgfs p.P86fs CDKN2A_ENST00000497750.1_Frame_Shift_Ins_p.R21fs|CDKN2A_ENST00000494262.1_Frame_Shift_Ins_p.R21fs|CDKN2A_ENST00000304494.5_Frame_Shift_Ins_p.R72fs|CDKN2A_ENST00000530628.2_Frame_Shift_Ins_p.P86fs|CDKN2A_ENST00000446177.1_Frame_Shift_Ins_p.R72fs|CDKN2A_ENST00000498628.2_Frame_Shift_Ins_p.R21fs|CDKN2A_ENST00000361570.3_Frame_Shift_Ins_p.P127fs|CDKN2A_ENST00000579122.1_Frame_Shift_Ins_p.R72fs|CDKN2A_ENST00000578845.2_Frame_Shift_Ins_p.R21fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000479692.2_Frame_Shift_Ins_p.R21fs|CDKN2A_ENST00000498124.1_Frame_Shift_Ins_p.R72fs P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 62 cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.?(44)|p.E61_L94del(1)|p.0(1)|p.C72S(1)|p.C72Y(1)|p.V59fs*45(1)|p.L65fs*38(1)|p.C72G(1)|p.A68fs*3(1)|p.C72fs*71(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) GGGGTCGGCGCAGTTGGGCTCC 0.713 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 19 80 --- --- --- --- HRCT1 646962 broad.mit.edu 37 9 35906348 35906350 + In_Frame_Del DEL CTG CTG - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr9:35906348_35906350delCTG ENST00000354323.2 + 1 160_162 c.64_66delCTG c.(64-66)del p.L28del NM_001039792.1 NP_001034881.1 Q6UXD1 HRCT1_HUMAN histidine rich carboxyl terminus 1 28 integral to membrane NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1) 4 TGTGGCGGTCctgctgctgctgc 0.670 15 185 --- --- --- --- TLE1 7088 broad.mit.edu 37 9 84208132 84208132 + Frame_Shift_Del DEL G G - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr9:84208132delG ENST00000376499.3 - 15 2453 c.1389delC c.(1387-1389)ccfs p.P463fs NM_005077.3 NP_005068.2 Q04724 TLE1_HUMAN transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila) 463 negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway transcription factor binding NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 29 TGAGGGCGTCGGGGGGAAAAG 0.562 7 630 --- --- --- --- ECM2 1842 broad.mit.edu 37 9 95277146 95277148 + In_Frame_Del DEL TCC TCC - rs137929518 byFrequency TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr9:95277146_95277148delTCC ENST00000344604.5 - 4 968_970 c.819_821delGGA c.(817-822)gat>ga p.ED273del CENPP_ENST00000375587.3_Intron|ECM2_ENST00000444490.2_In_Frame_Del_p.ED251del NM_001197295.1|NM_001393.3 NP_001184224.1|NP_001384.1 O94769 ECM2_HUMAN extracellular matrix protein 2, female organ and adipocyte specific 273 Poly-Glu. cell-matrix adhesion integrin binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 ctcctcctcatcctcctcctcct 0.606 14 823 --- --- --- --- FKBP15 23307 broad.mit.edu 37 9 115969556 115969556 + Frame_Shift_Del DEL T T - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr9:115969556delT ENST00000238256.3 - 3 307 c.190delA c.(190-192)cafs p.T64fs FKBP15_ENST00000493847.1_5'UTR NM_015258.1 NP_056073.1 Q5T1M5 FKB15_HUMAN FK506 binding protein 15, 133kDa 64 endocytosis|protein folding axon|early endosome actin binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1) 26 GCTGGTGCTGTTTTTGGTGTT 0.418 12 1800 --- --- --- --- DAB2IP 153090 broad.mit.edu 37 9 124522389 124522391 + In_Frame_Del DEL AAG AAG - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr9:124522389_124522391delAAG ENST00000408936.3 + 6 1023_1025 c.841_843delAAG c.(841-843)del p.K285del DAB2IP_ENST00000309989.1_In_Frame_Del_p.K161del|DAB2IP_ENST00000259371.2_In_Frame_Del_p.K257del Q5VWQ8 DAB2P_HUMAN DAB2 interacting protein 285 C2. activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter cytoplasm|intrinsic to internal side of plasma membrane 14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 27 GGAGACCGACAAGAAGAAGAAGA 0.601 12 460 --- --- --- --- TPRN 286262 broad.mit.edu 37 9 140087025 140087027 + In_Frame_Del DEL TCC TCC - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr9:140087025_140087027delTCC ENST00000409012.4 - 2 1928_1930 c.1842_1844delGGA c.(1840-1845)gaa>ga p.EE620del TPRN_ENST00000321773.2_In_Frame_Del_p.EE559del NM_001128228.2 NP_001121700.2 Q4KMQ1 TPRN_HUMAN taperin 620 Glu-rich. sensory perception of sound stereocilium p.E315delE(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2) 8 ctcttcctcttcctcctcctcct 0.596 9 163 --- --- --- --- SFMBT2 57713 broad.mit.edu 37 10 7212995 7212997 + In_Frame_Del DEL CTC CTC - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr10:7212995_7212997delCTC ENST00000361972.4 - 20 2527_2529 c.2437_2439delGAG c.(2437-2439)del p.E813del SFMBT2_ENST00000397167.1_In_Frame_Del_p.E813del NM_001018039.1 NP_001018049.1 Q5VUG0 SMBT2_HUMAN Scm-like with four mbt domains 2 813 regulation of transcription, DNA-dependent nucleus NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 99 GAACCAGTCTCTCCTCCTCCTCC 0.596 9 1049 --- --- --- --- C10orf68 79741 broad.mit.edu 37 10 33018277 33018277 + Frame_Shift_Del DEL A A - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr10:33018277delA ENST00000375030.2 + 13 1360 c.742delA c.(742-744)aafs p.K250fs C10orf68_ENST00000375028.3_Frame_Shift_Del_p.K218fs|C10orf68_ENST00000375025.4_Frame_Shift_Del_p.K242fs Q9H943 CJ068_HUMAN chromosome 10 open reading frame 68 242 breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4) 29 TTTAGAAATCAAAAAAAAGGA 0.323 9 384 --- --- --- --- A1CF 29974 broad.mit.edu 37 10 52569667 52569669 + In_Frame_Del DEL AGC AGC - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr10:52569667_52569669delAGC ENST00000395489.2 - 14 1993_1995 c.1597_1599delGCT c.(1597-1599)del p.A533del A1CF_ENST00000373995.3_In_Frame_Del_p.A540del|A1CF_ENST00000395495.1_In_Frame_Del_p.A485del|A1CF_ENST00000374001.1_In_Frame_Del_p.A532del|A1CF_ENST00000373993.1_In_Frame_Del_p.A540del|A1CF_ENST00000373997.3_In_Frame_Del_p.A532del|A1CF_ENST00000282641.2_In_Frame_Del_p.A540del|ASAH2B_ENST00000483649.1_Intron NM_001198819.1 NP_001185748.1 Q9NQ94 A1CF_HUMAN APOBEC1 complementation factor 540 cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm nucleotide binding|protein binding|single-stranded RNA binding NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3) 29 GGAAagcagtagcagcagcagca 0.512 8 492 --- --- --- --- ZNF365 22891 broad.mit.edu 37 10 64159366 64159366 + Frame_Shift_Del DEL A A - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr10:64159366delA ENST00000395254.3 + 5 1322 c.1042delA c.(1042-1044)aafs p.K349fs ZNF365_ENST00000395255.3_Intron|ZNF365_ENST00000466727.1_3'UTR|ZNF365_ENST00000410046.3_Intron NM_014951.2 NP_055766.2 Q70YC4 TALAN_HUMAN zinc finger protein 365 0 breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 Prostate(12;0.0297)|all_hematologic(501;0.228) GAACCACCTGAAAAAGGCCAA 0.567 8 1363 --- --- --- --- JMJD1C 221037 broad.mit.edu 37 10 64952699 64952699 + Splice_Site DEL T T - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr10:64952699delT ENST00000399262.2 - 16 6293 c.6076_splice c.e16+1 p.K2025_splice JMJD1C_ENST00000542921.1_Splice_Site_p.K1843_splice|JMJD1C_ENST00000399251.1_3'UTR|JMJD1C_ENST00000402544.1_Splice_Site_p.K1788_splice NM_032776.1 NP_116165.1 Q15652 JHD2C_HUMAN jumonji domain containing 1C 2025 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 77 Prostate(12;0.0119)|all_hematologic(501;0.191) TATGTTTACCTTTTTTTTCCT 0.373 7 567 --- --- --- --- CCAR1 55749 broad.mit.edu 37 10 70509285 70509286 + Frame_Shift_Del DEL GA GA - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr10:70509285_70509286delGA ENST00000265872.6 + 10 1080_1081 c.961_962delGA c.(961-963)gfs p.E321fs CCAR1_ENST00000535016.1_Frame_Shift_Del_p.E306fs|CCAR1_ENST00000543719.1_Frame_Shift_Del_p.E306fs NM_018237.2 NP_060707.2 Q8IX12 CCAR1_HUMAN cell division cycle and apoptosis regulator 1 321 Arg-rich. apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm|perinuclear region of cytoplasm calcium ion binding|nucleic acid binding|protein binding NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3) 56 TTTCAGTCGTGAGAGAGAGAGA 0.391 15 266 --- --- --- --- DLG5 9231 broad.mit.edu 37 10 79565520 79565520 + Frame_Shift_Del DEL A A - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr10:79565520delA ENST00000372391.2 - 27 5072 c.5067delT c.(5065-5067)ttfs p.F1689fs DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Frame_Shift_Del_p.F1349fs NM_004747.3 NP_004738.3 Q8TDM6 DLG5_HUMAN discs, large homolog 5 (Drosophila) 1689 cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis cell junction|cytoplasm beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146) Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446) GTTTCCTCCGAAAAAAGGACC 0.537 8 770 --- --- --- --- ZMIZ1 57178 broad.mit.edu 37 10 81072446 81072446 + Frame_Shift_Del DEL C C - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr10:81072446delC ENST00000334512.5 + 25 3716 c.3144delC c.(3142-3144)gafs p.D1048fs ZMIZ1_ENST00000446377.2_Frame_Shift_Del_p.D114fs NM_020338.3 NP_065071.1 Q9ULJ6 ZMIZ1_HUMAN zinc finger, MIZ-type containing 1 1048 transcription, DNA-dependent cytoplasm|nuclear speck zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1) 30 all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985) Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229) CTTATCTGGACCCCCCCGACC 0.557 8 1534 --- --- --- --- LZTS2 84445 broad.mit.edu 37 10 102763415 102763417 + In_Frame_Del DEL CCT CCT - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr10:102763415_102763417delCCT ENST00000370220.1 + 2 3623_3625 c.560_562delCCT c.(559-564)gcc>g p.AS187del LZTS2_ENST00000370223.3_In_Frame_Del_p.AS187del Q9BRK4 LZTS2_HUMAN leucine zipper, putative tumor suppressor 2 187 Required for centrosomal localization (By similarity). cell division|mitosis|Wnt receptor signaling pathway membrane|microtubule|microtubule organizing center breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 22 Epithelial(162;7.3e-09)|all cancers(201;3.72e-07) GGGGGCCCTGcctcctcctcctc 0.650 26 1342 --- --- --- --- NOLC1 9221 broad.mit.edu 37 10 103919000 103919002 + In_Frame_Del DEL AGC AGC - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr10:103919000_103919002delAGC ENST00000405356.1 + 6 893_895 c.658_660delAGC c.(658-660)del p.S227del NOLC1_ENST00000488254.2_In_Frame_Del_p.S228del|NOLC1_ENST00000605788.1_In_Frame_Del_p.S227del|NOLC1_ENST00000603742.1_5'UTR Q14978 NOLC1_HUMAN nucleolar and coiled-body phosphoprotein 1 227 11 X 12 AA approximate repeats of an acidic serine cluster.|Interacts with RPA194. mitosis|rRNA processing cytoplasm|nucleolus ATP binding|GTP binding|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 31 Colorectal(252;0.122) Epithelial(162;5.19e-08)|all cancers(201;9.43e-07) tagcagcagtagcagcagcagca 0.517 11 882 --- --- --- --- CUEDC2 79004 broad.mit.edu 37 10 104184037 104184039 + In_Frame_Del DEL GCA GCA - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr10:104184037_104184039delGCA ENST00000369937.4 - 5 538_540 c.393_395delTGC c.(391-396)gca>gc p.AA131del CUEDC2_ENST00000465409.1_5'UTR NM_024040.2 NP_076945.2 Q9H467 CUED2_HUMAN CUE domain containing 2 131 cytoplasm|nucleus protein binding autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(1)|stomach(1)|upper_aerodigestive_tract(1) 8 Colorectal(252;0.122) Epithelial(162;9.17e-09)|all cancers(201;2.16e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) TTGGGTGTCTGCAGCAGCAGCAG 0.581 8 730 --- --- --- --- CPXM2 119587 broad.mit.edu 37 10 125528165 125528167 + In_Frame_Del DEL CAG CAG - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr10:125528165_125528167delCAG ENST00000241305.3 - 9 1328_1330 c.1174_1176delCTG c.(1174-1176)del p.L392del CPXM2_ENST00000368854.3_5'UTR NM_198148.2 NP_937791.2 Q8N436 CPXM2_HUMAN carboxypeptidase X (M14 family), member 2 392 Poly-Leu. cell adhesion|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3) 47 all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233) COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237) CGAACTGCACCAGCAGCAGCAGC 0.626 16 1256 --- --- --- --- ATHL1 80162 broad.mit.edu 37 11 293126 293127 + Frame_Shift_Del DEL CT CT - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr11:293126_293127delCT ENST00000409479.1 + 7 1573_1574 c.1315_1316delCT c.(1315-1317)cfs p.L439fs ATHL1_ENST00000409548.2_Intron|ATHL1_ENST00000409655.1_Intron Q32M88 ATHL1_HUMAN ATH1, acid trehalase-like 1 (yeast) 419 carbohydrate metabolic process hydrolase activity, acting on glycosyl bonds breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|skin(3) 17 all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122) GCCTCTGAGACTCTGCACTGAG 0.579 7 1491 --- --- --- --- PHRF1 57661 broad.mit.edu 37 11 592586 592588 + In_Frame_Del DEL GAG GAG - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr11:592586_592588delGAG ENST00000264555.5 + 6 660_662 c.532_534delGAG c.(532-534)del p.E181del PHRF1_ENST00000416188.2_In_Frame_Del_p.E181del|PHRF1_ENST00000533464.1_In_Frame_Del_p.E177del|PHRF1_ENST00000413872.2_In_Frame_Del_p.E180del NM_020901.2 NP_065952.2 Q9P1Y6 PHRF1_HUMAN PHD and ring finger domains 1 181 Poly-Glu. RNA polymerase binding|zinc ion binding breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2) 28 CAAAGCGAGCGAGGAGGAGGAGG 0.616 7 1272 --- --- --- --- APBB1 322 broad.mit.edu 37 11 6432090 6432092 + In_Frame_Del DEL TCC TCC - rs145320037 TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr11:6432090_6432092delTCC ENST00000389906.2 - 2 585_587 c.486_488delGGA c.(484-489)gat>ga p.ED162del APBB1_ENST00000311051.3_In_Frame_Del_p.ED162del|APBB1_ENST00000299402.6_In_Frame_Del_p.ED162del|APBB1_ENST00000533407.1_Intron NM_001257325.1 NP_001244254.1 O00213 APBB1_HUMAN amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65) 162 Glu-rich. apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding p.E162D(1) breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1) 24 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194) atcatcatcatcctcctcctcct 0.635 12 296 --- --- --- --- OR10A2 341276 broad.mit.edu 37 11 6891253 6891255 + In_Frame_Del DEL TTC TTC - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr11:6891253_6891255delTTC ENST00000307322.4 + 1 330_332 c.268_270delTTC c.(268-270)del p.F94del NM_001004460.1 NP_001004460.1 Q9H208 O10A2_HUMAN olfactory receptor, family 10, subfamily A, member 2 94 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1) 24 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) TCAGATGTATTTCTTCTTCTTCT 0.517 16 1076 --- --- --- --- KCNA4 3739 broad.mit.edu 37 11 30034029 30034031 + In_Frame_Del DEL TGG TGG - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr11:30034029_30034031delTGG ENST00000328224.6 - 2 1428_1430 c.195_197delCCA c.(193-198)cag>ca p.HQ65del NM_002233.3 NP_002224.1 P22459 KCNA4_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 4 65 Poly-His. voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 CCCGCGTGACTGGTGGTGGTGGT 0.660 7 532 --- --- --- --- ARL14EP 120534 broad.mit.edu 37 11 30352754 30352754 + Frame_Shift_Del DEL A A - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr11:30352754delA ENST00000282032.3 + 2 474 c.259delA c.(259-261)aafs p.K88fs NM_152316.1 NP_689529.1 ADP-ribosylation factor-like 14 effector protein GAAATTAGCCAAAAAAAATTT 0.338 9 655 --- --- --- --- ARHGAP1 392 broad.mit.edu 37 11 46702224 46702224 + Frame_Shift_Del DEL G G - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr11:46702224delG ENST00000311956.4 - 8 806 c.709delC c.(709-711)tgfs p.L237fs NM_004308.2 NP_004299.1 Q07960 RHG01_HUMAN Rho GTPase activating protein 1 237 Rho protein signal transduction cytosol|intracellular membrane-bounded organelle SH3 domain binding|SH3/SH2 adaptor activity endometrium(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 11 Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11) GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153) TGGTTGGGCAGGGGGGGCCGT 0.642 8 603 --- --- --- --- ARFGAP2 84364 broad.mit.edu 37 11 47196853 47196853 + Frame_Shift_Del DEL A A - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr11:47196853delA ENST00000524782.1 - 4 504 c.276delT c.(274-276)ttfs p.F92fs ARFGAP2_ENST00000419701.2_Frame_Shift_Del_p.F13fs|ARFGAP2_ENST00000395449.3_5'UTR|ARFGAP2_ENST00000319543.6_Intron|ARFGAP2_ENST00000426335.2_Intron NM_001242832.1|NM_032389.4 NP_001229761.1|NP_115765.2 Q8N6H7 ARFG2_HUMAN ADP-ribosylation factor GTPase activating protein 2 92 Arf-GAP. protein transport|regulation of ARF GTPase activity|vesicle-mediated transport Golgi membrane|nucleolus|plasma membrane ARF GTPase activator activity|zinc ion binding breast(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 CATGTTGGCGAAAAAAAGCCG 0.537 8 800 --- --- --- --- MYBPC3 4607 broad.mit.edu 37 11 47359101 47359103 + In_Frame_Del DEL TCT TCT - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr11:47359101_47359103delTCT ENST00000545968.1 - 25 2495_2497 c.2441_2443delAGA c.(2440-2445)agc>a p.KS814del MYBPC3_ENST00000256993.4_In_Frame_Del_p.KS813del|MYBPC3_ENST00000399249.2_In_Frame_Del_p.KS814del NM_000256.3 NP_000247.2 Q14896 MYPC3_HUMAN myosin binding protein C, cardiac 813 Fibronectin type-III 1. cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis C zone|cytosol|striated muscle myosin thick filament actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2) 42 Lung(87;0.176) CACCGGTAGCTCTTCTTCTTCTT 0.601 12 429 --- --- --- --- TMEM132A 54972 broad.mit.edu 37 11 60703785 60703787 + In_Frame_Del DEL GGA GGA - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr11:60703785_60703787delGGA ENST00000005286.4 + 11 2634_2636 c.2481_2483delGGA c.(2479-2484)agg>ag p.RE827del TMEM132A_ENST00000453848.2_In_Frame_Del_p.RE826del NM_017870.3|NM_178031.2 NP_060340.2|NP_821174.1 Q24JP5 T132A_HUMAN transmembrane protein 132A 826 Binds to HSPA5/GRP78 (By similarity).|Confers cellular localization similar to full-length form (By similarity).|Glu-rich. endoplasmic reticulum membrane|Golgi membrane|integral to membrane breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3) 32 CCGAAGCCAGggaggaggaggag 0.635 13 733 --- --- --- --- SLC22A10 387775 broad.mit.edu 37 11 63071638 63071638 + Frame_Shift_Del DEL T T - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr11:63071638delT ENST00000544661.1 + 9 1168 c.740delT c.(739-741)ctfs p.L247fs SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000332793.6_Frame_Shift_Del_p.T448fs|SLC22A10_ENST00000526800.1_Intron|SLC22A10_ENST00000535888.1_Intron Q63ZE4 S22AA_HUMAN solute carrier family 22, member 10 0 integral to membrane transmembrane transporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 CTGCTGCTACTTTTTCCAGTG 0.483 7 1567 --- --- --- --- C11orf95 65998 broad.mit.edu 37 11 63533335 63533337 + RNA DEL TCC TCC - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr11:63533335_63533337delTCC ENST00000433688.1 - 0 597_599 C9JLR9 CK095_HUMAN chromosome 11 open reading frame 95 intracellular zinc ion binding ctcctcttcttcctcctcctcct 0.670 8 19 --- --- --- --- KAT5 10524 broad.mit.edu 37 11 65480517 65480518 + Frame_Shift_Del DEL AG AG - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr11:65480517_65480518delAG ENST00000341318.4 + 3 606_607 c.372_373delAG c.(370-375)ccagfs p.PE124fs KAT5_ENST00000534650.1_5'UTR|KAT5_ENST00000525204.1_3'UTR|KAT5_ENST00000352980.4_Frame_Shift_Del_p.PE91fs|KAT5_ENST00000377046.3_Frame_Shift_Del_p.PE91fs|KAT5_ENST00000530446.1_Frame_Shift_Del_p.PE124fs NM_182710.2 NP_874369.1 Q92993 KAT5_HUMAN K(lysine) acetyltransferase 5 91 androgen receptor signaling pathway|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm|Piccolo NuA4 histone acetyltransferase complex androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9) 21 CTGGCTCTCCAGAGAGAGAGGT 0.564 8 975 --- --- --- --- KDM2A 22992 broad.mit.edu 37 11 67018079 67018081 + In_Frame_Del DEL GAG GAG - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr11:67018079_67018081delGAG ENST00000529006.2 + 17 3024_3026 c.2578_2580delGAG c.(2578-2580)del p.E866del KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000308783.5_In_Frame_Del_p.E324del|KDM2A_ENST00000398645.2_Intron|KDM2A_ENST00000530342.1_In_Frame_Del_p.E427del NM_012308.2 NP_036440.1 Q9Y2K7 KDM2A_HUMAN lysine (K)-specific demethylase 2A 866 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2) 36 ggaggaggaagaggaggaggagg 0.655 7 208 --- --- --- --- C11orf54 28970 broad.mit.edu 37 11 93486914 93486914 + Frame_Shift_Del DEL A A - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr11:93486914delA ENST00000528288.1 + 4 456 c.221delA c.(220-222)cafs p.Q74fs C11orf54_ENST00000354421.3_Frame_Shift_Del_p.Q74fs|C11orf54_ENST00000331239.4_Frame_Shift_Del_p.Q74fs|C11orf54_ENST00000528099.1_Frame_Shift_Del_p.Q74fs|C11orf54_ENST00000540113.1_Frame_Shift_Del_p.Q55fs NM_014039.2 NP_054758.2 Q9H0W9 CK054_HUMAN chromosome 11 open reading frame 54 74 nucleus hydrolase activity, acting on ester bonds|protein binding|zinc ion binding NS(1)|endometrium(1)|large_intestine(1)|lung(5) 8 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) CTTGTAAACCAAAAAAAAGTA 0.353 7 215 --- --- --- --- CASP1 834 broad.mit.edu 37 11 104901070 104901070 + Frame_Shift_Del DEL T T - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr11:104901070delT ENST00000533400.1 - 5 649 c.614delA c.(613-615)atfs p.N205fs CASP1_ENST00000353247.5_Intron|CASP1_ENST00000527979.1_Frame_Shift_Del_p.N168fs|CASP1_ENST00000598974.1_Frame_Shift_Del_p.N205fs|CASP1_ENST00000526568.1_Frame_Shift_Del_p.N112fs|CASP1_ENST00000525825.1_Frame_Shift_Del_p.N184fs|CASP1_ENST00000393136.4_Frame_Shift_Del_p.N184fs|CASP1_ENST00000594519.1_Frame_Shift_Del_p.N112fs|CASP1_ENST00000593315.1_Frame_Shift_Del_p.N184fs|CASP1_ENST00000534497.1_Frame_Shift_Del_p.N112fs|CASP1_ENST00000446369.1_Frame_Shift_Del_p.N112fs|CASP1_ENST00000436863.3_Frame_Shift_Del_p.N205fs|CASP1_ENST00000531166.1_Intron|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000528974.1_Frame_Shift_Del_p.N166fs NM_001257118.1 NP_001244047.1 P29466 CASP1_HUMAN caspase 1, apoptosis-related cysteine peptidase 205 cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction cytosol caspase activator activity|cysteine-type endopeptidase activity|protein binding p.N205I(1) haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2) 5 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047) BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482) Minocycline(DB01017)|Penicillamine(DB00859) AGCAGTGAGATTTTTTTTCAC 0.378 7 881 --- --- --- --- SIK2 23235 broad.mit.edu 37 11 111594527 111594529 + In_Frame_Del DEL CAG CAG - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr11:111594527_111594529delCAG ENST00000304987.3 + 15 2628_2630 c.2455_2457delCAG c.(2455-2457)del p.Q822del NM_015191.1 NP_056006.1 Q9H0K1 SIK2_HUMAN salt-inducible kinase 2 822 intracellular protein kinase cascade|regulation of insulin receptor signaling pathway Golgi apparatus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3) 30 CACGCAGCTACAGCAGCAGCAGc 0.640 7 848 --- --- --- --- CD3G 917 broad.mit.edu 37 11 118220583 118220583 + Frame_Shift_Del DEL A A - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr11:118220583delA ENST00000532917.1 + 3 273 c.205delA c.(205-207)aafs p.K71fs CD3G_ENST00000532903.1_3'UTR|CD3G_ENST00000392883.2_Frame_Shift_Del_p.K11fs NM_000073.2 NP_000064.1 P09693 CD3G_HUMAN CD3g molecule, gamma (CD3-TCR complex) 71 Ig-like. establishment or maintenance of cell polarity|protein complex assembly|protein transport|regulation of apoptosis|T cell activation|T cell costimulation|T cell receptor signaling pathway integral to plasma membrane|T cell receptor complex protein heterodimerization activity|receptor signaling complex scaffold activity|T cell receptor binding|transmembrane receptor activity breast(2)|kidney(1)|large_intestine(2)|skin(1) 6 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.04e-05) AACTGAAGATAAAAAAAAATG 0.403 7 470 --- --- --- --- DPAGT1 1798 broad.mit.edu 37 11 118967854 118967856 + In_Frame_Del DEL GCA GCA - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr11:118967854_118967856delGCA ENST00000409993.2 - 10 2708_2710 c.1157_1159delTGC c.(1156-1161)cag>c p.LQ386del DPAGT1_ENST00000432443.2_In_Frame_Del_p.LQ279del|DPAGT1_ENST00000354202.4_In_Frame_Del_p.LQ386del Q9H3H5 GPT_HUMAN dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase) 386 dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization integral to endoplasmic reticulum membrane|microsome phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2) 17 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.55e-05) ATCCTCACCTGCAGCAGCAGCAG 0.488 10 897 --- --- --- --- CBL 867 broad.mit.edu 37 11 119149356 119149358 + In_Frame_Del DEL ATG ATG - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr11:119149356_119149358delATG ENST00000264033.4 + 9 1740_1742 c.1364_1366delATG c.(1363-1368)tat>t p.YD455del NM_005188.3 NP_005179.2 P22681 CBL_HUMAN Cbl proto-oncogene, E3 ubiquitin protein ligase 455 Asp/Glu-rich (acidic). epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis cytosol|nucleus calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding p.E366_K477del(1) breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 251 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784) TCCCCAAATTATGATGATGATGA 0.473 """T, Mis S, O""" MLL """AML, JMML, MDS""" Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies 9 415 --- --- --- --- SLC37A2 219855 broad.mit.edu 37 11 124949013 124949013 + Frame_Shift_Del DEL T T - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr11:124949013delT ENST00000403796.2 + 5 621 c.320delT c.(319-321)gtfs p.V107fs SLC37A2_ENST00000407458.1_Frame_Shift_Del_p.V107fs|SLC37A2_ENST00000308074.4_Frame_Shift_Del_p.V107fs|SLC37A2_ENST00000298280.5_Frame_Shift_Del_p.V107fs NM_001145290.1 NP_001138762.1 Q8TED4 SPX2_HUMAN solute carrier family 37 (glucose-6-phosphate transporter), member 2 107 carbohydrate transport|transmembrane transport integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1) 27 all_hematologic(175;0.215) Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384) CCCAGTGGGGTTTTTGGGGAG 0.552 9 1549 --- --- --- --- IFFO1 25900 broad.mit.edu 37 12 6649704 6649706 + In_Frame_Del DEL GGC GGC - rs144019095 TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr12:6649704_6649706delGGC ENST00000436152.2 - 11 1273_1275 c.714_716delGCC c.(712-717)cca>cc p.PP238del IFFO1_ENST00000336604.4_In_Frame_Del_p.PP544del|IFFO1_ENST00000356896.4_In_Frame_Del_p.PP545del|IFFO1_ENST00000396840.2_In_Frame_Del_p.PP541del|IFFO1_ENST00000465801.1_In_Frame_Del_p.PP237del Q0D2I5 IFFO1_HUMAN intermediate filament family orphan 1 541 intermediate filament central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 20 AGCCTCGCTTGGCGGCGGCGGCG 0.601 9 649 --- --- --- --- CHD4 1108 broad.mit.edu 37 12 6711145 6711147 + In_Frame_Del DEL TCC TCC - rs71584865 byFrequency TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr12:6711145_6711147delTCC ENST00000309577.6 - 4 580_582 c.417_419delGGA c.(415-420)gat>ga p.ED139del CHD4_ENST00000544484.1_In_Frame_Del_p.ED136del|CHD4_ENST00000544040.1_In_Frame_Del_p.ED132del|CHD4_ENST00000357008.2_In_Frame_Del_p.ED139del Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 139 Poly-Asp. E -> D (in dbSNP:rs1639122). chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 ATCATCATCAtcctcctcctcct 0.453 12 339 --- --- --- --- LINC00987 0 broad.mit.edu 37 12 9392739 9392740 + RNA INS - - TCTTCCTCCTCC rs71045240 TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr12:9392739_9392740insTCTTCCTCCTCC ENST00000427111.3 + 0 141_142 NR_036466.1 caccatcaccttcttcctcccc 0.545 9 102 --- --- --- --- GPRC5A 0 broad.mit.edu 37 12 13061365 13061365 + Frame_Shift_Del DEL G G - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr12:13061365delG ENST00000014914.5 + 2 1072 c.182delG c.(181-183)agfs p.R62fs GPRC5A_ENST00000542056.1_Intron NM_003979.3 NP_003970.1 Q8NFJ5 RAI3_HUMAN G protein-coupled receptor, family C, group 5, member A 62 cytoplasmic vesicle membrane|Golgi apparatus|integral to plasma membrane G-protein coupled receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 18 Prostate(47;0.141) BRCA - Breast invasive adenocarcinoma(232;0.0708) Tretinoin(DB00755) GACTCCAACAGGCGAAAAATG 0.587 11 945 --- --- --- --- RP11-551L14.1 0 broad.mit.edu 37 12 31269189 31269190 + RNA INS - - ATCAT rs35880498 TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr12:31269189_31269190insATCAT ENST00000542490.1 - 0 165 central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1) 41 CATGAGAACTCATTACCATGAT 0.351 15 27 --- --- --- --- SCAF11 9169 broad.mit.edu 37 12 46318575 46318577 + In_Frame_Del DEL GGT GGT - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr12:46318575_46318577delGGT ENST00000465950.1 - 2 4104_4106 c.2895_2897delACC c.(2893-2898)ccc>cc p.PP969del SCAF11_ENST00000369367.3_In_Frame_Del_p.PP1284del|SCAF11_ENST00000549162.1_In_Frame_Del_p.PP1092del|SCAF11_ENST00000419565.2_In_Frame_Del_p.PP1284del Q99590 SCAFB_HUMAN SR-related CTD-associated factor 11 1284 Arg-rich. spliceosome assembly nucleus protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 69 TGGGGGAGGGGGTGGTGGTGGTG 0.483 11 861 --- --- --- --- KMT2D 8085 broad.mit.edu 37 12 49444933 49444933 + Frame_Shift_Del DEL G G - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr12:49444933delG ENST00000301067.7 - 10 2532 c.2533delC c.(2533-2535)ggfs p.R845fs NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D TCCTCAGGCCGGGGGGACAGG 0.647 11 1181 --- --- --- --- ASIC1 41 broad.mit.edu 37 12 50452565 50452567 + In_Frame_Del DEL GAG GAG - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr12:50452565_50452567delGAG ENST00000228468.4 + 2 401_403 c.16_18delGAG c.(16-18)del p.E9del ASIC1_ENST00000447966.2_In_Frame_Del_p.E9del NM_020039.3 NP_064423.2 P78348 ACCN2_HUMAN acid-sensing (proton-gated) ion channel 1 9 calcium ion transport|response to pH|signal transduction integral to plasma membrane ligand-gated sodium channel activity|protein binding Amiloride(DB00594) ACTGAAGGCCGAGGAGGAGGAGG 0.616 10 756 --- --- --- --- AMHR2 269 broad.mit.edu 37 12 53818999 53819001 + In_Frame_Del DEL CTG CTG - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr12:53818999_53819001delCTG ENST00000257863.4 + 4 555_557 c.475_477delCTG c.(475-477)del p.L162del AMHR2_ENST00000379791.3_In_Frame_Del_p.L162del|AMHR2_ENST00000550311.1_In_Frame_Del_p.L162del NM_001164690.1|NM_020547.2 NP_001158162.1|NP_065434.1 Q16671 AMHR2_HUMAN anti-Mullerian hormone receptor, type II 162 Mullerian duct regression ATP binding|hormone binding|metal ion binding breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2) 34 Adenosine triphosphate(DB00171) CCTCCTCCTCCTGCTGCTGCTGG 0.591 7 909 --- --- --- --- OR10A7 121364 broad.mit.edu 37 12 55615114 55615116 + In_Frame_Del DEL CTT CTT - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr12:55615114_55615116delCTT ENST00000326258.1 + 1 306_308 c.306_308delCTT c.(304-309)tac>ta p.YF102del NM_001005280.1 NP_001005280.1 Q8NGE5 O10A7_HUMAN olfactory receptor, family 10, subfamily A, member 7 102 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3) 24 CCCAGATGTACTTCTTCTTCTTC 0.414 16 1196 --- --- --- --- OR6C75 390323 broad.mit.edu 37 12 55759486 55759486 + Frame_Shift_Del DEL T T - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr12:55759486delT ENST00000343399.3 + 1 592 c.592delT c.(592-594)ttfs p.F199fs NM_001005497.1 NP_001005497.1 A6NL08 O6C75_HUMAN olfactory receptor, family 6, subfamily C, member 75 199 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L200fs*1(1) endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2) 25 ACTCATGGCATTTTTTTTAGC 0.393 10 643 --- --- --- --- OR6C65 403282 broad.mit.edu 37 12 55794610 55794610 + Frame_Shift_Del DEL T T - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr12:55794610delT ENST00000379665.2 + 1 397 c.298delT c.(298-300)ttfs p.F101fs NM_001005518.1 NP_001005518.1 A6NJZ3 O6C65_HUMAN olfactory receptor, family 6, subfamily C, member 65 101 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L102fs*1(1) cervix(1)|endometrium(2)|large_intestine(3)|lung(9) 15 GGCCCAAGTATTTTTTTTAAT 0.358 7 663 --- --- --- --- SMARCC2 6601 broad.mit.edu 37 12 56558379 56558381 + In_Frame_Del DEL AGG AGG - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr12:56558379_56558381delAGG ENST00000550164.1 - 28 3381_3383 c.3367_3369delCCT c.(3367-3369)del p.P1123del SMARCC2_ENST00000347471.4_Intron|SMARCC2_ENST00000394023.3_Intron|SMARCC2_ENST00000267064.4_In_Frame_Del_p.P1092del|RP11-977G19.5_ENST00000553176.1_RNA Q8TAQ2 SMRC2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 1092 Pro-rich. HGHHHHLPFA -> MGSPPSPVR (in Ref. 1; AAC50694). 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) TGGATGGAGCAGGAGGAGGAGGA 0.591 17 349 --- --- --- --- R3HDM2 22864 broad.mit.edu 37 12 57674205 57674207 + In_Frame_Del DEL TGC TGC - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr12:57674205_57674207delTGC ENST00000402412.1 - 14 1668_1670 c.1278_1280delGCA c.(1276-1281)caa>ca p.QQ426del R3HDM2_ENST00000347140.3_In_Frame_Del_p.QQ412del|R3HDM2_ENST00000441731.2_In_Frame_Del_p.QQ73del|RP11-123K3.4_ENST00000548184.1_RNA|R3HDM2_ENST00000393811.2_In_Frame_Del_p.QQ139del|R3HDM2_ENST00000358907.2_In_Frame_Del_p.QQ412del|R3HDM2_ENST00000403821.2_In_Frame_Del_p.QQ412del|R3HDM2_ENST00000413953.2_In_Frame_Del_p.QQ139del Q9Y2K5 R3HD2_HUMAN R3H domain containing 2 412 Gln-rich. nucleus nucleic acid binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 22 AGCAGGAAGTtgctgctgctgct 0.576 14 627 --- --- --- --- TSFM 10102 broad.mit.edu 37 12 58177067 58177068 + Splice_Site DEL GT GT - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr12:58177067_58177068delGT ENST00000454289.3 + 2 444 c.e2+1 RP11-571M6.15_ENST00000553083.1_Splice_Site|TSFM_ENST00000543727.1_Splice_Site|TSFM_ENST00000350762.5_Splice_Site|TSFM_ENST00000323833.8_Splice_Site|RP11-571M6.15_ENST00000471530.1_Splice_Site|TSFM_ENST00000548851.1_Splice_Site|TSFM_ENST00000540550.1_Splice_Site|TSFM_ENST00000497617.1_Splice_Site|TSFM_ENST00000550559.1_Splice_Site NM_005726.5 NP_005717.3 P43897 EFTS_HUMAN Ts translation elongation factor, mitochondrial regulation of transcription elongation, DNA-dependent mitochondrion|nucleus translation elongation factor activity endometrium(1)|kidney(1)|large_intestine(5)|prostate(1) 8 all_cancers(7;6.31e-80)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) CCTCAAACAGGTGTGTGTGTGG 0.559 7 1162 --- --- --- --- CEP290 80184 broad.mit.edu 37 12 88524078 88524079 + Frame_Shift_Ins INS - - T TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr12:88524078_88524079insT ENST00000552810.1 - 9 978_979 c.635_636insA c.(634-636)atafs p.I212fs CEP290_ENST00000309041.7_Frame_Shift_Ins_p.I212fs NM_025114.3 NP_079390.3 O15078 CE290_HUMAN centrosomal protein 290kDa 212 cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium protein binding breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 73 TAAGCTCATAGTTTTTTTTAGA 0.317 8 918 --- --- --- --- SYCP3 50511 broad.mit.edu 37 12 102122901 102122901 + Frame_Shift_Del DEL T T - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr12:102122901delT ENST00000392927.3 - 8 774 c.643delA c.(643-645)ttfs p.I215fs SYCP3_ENST00000392924.1_Frame_Shift_Del_p.I215fs|SYCP3_ENST00000266743.2_Frame_Shift_Del_p.I215fs NM_001177948.1|NM_001177949.1|NM_153694.4 NP_001171419.1|NP_001171420.1|NP_710161.1 Q8IZU3 SYCP3_HUMAN synaptonemal complex protein 3 215 Gln-rich. cell division|male meiosis I|spermatogenesis, exchange of chromosomal proteins nucleus DNA binding endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(1) 11 TCCATCATAATTTTTTTTTGC 0.259 7 224 --- --- --- --- C12orf42 374470 broad.mit.edu 37 12 103695960 103695960 + Frame_Shift_Del DEL G G - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr12:103695960delG ENST00000548048.1 - 9 1304 c.808delC c.(808-810)gcfs p.R270fs C12orf42_ENST00000315192.8_Intron|C12orf42_ENST00000378113.2_Frame_Shift_Del_p.R337fs|C12orf42_ENST00000548883.1_Frame_Shift_Del_p.R337fs Q96LP6 CL042_HUMAN chromosome 12 open reading frame 42 337 NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1) 22 CGGGTTGGGCGGGGGGGTGCT 0.587 11 975 --- --- --- --- GCN1L1 10985 broad.mit.edu 37 12 120595737 120595739 + In_Frame_Del DEL CTC CTC - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr12:120595737_120595739delCTC ENST00000300648.6 - 26 3013_3015 c.3001_3003delGAG c.(3001-3003)del p.E1001del NM_006836.1 NP_006827.1 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 1-like 1 (yeast) 1001 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 94 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GGGCCATCCACTCCTCCTCCTCC 0.631 9 554 --- --- --- --- RSRC2 65117 broad.mit.edu 37 12 123003584 123003584 + Frame_Shift_Del DEL A A - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr12:123003584delA ENST00000354654.2 - 4 367 c.56delT c.(55-57)tafs p.L19fs RSRC2_ENST00000331738.7_Intron Q7L4I2 RSRC2_HUMAN arginine/serine-rich coiled-coil 2 67 breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2) 24 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201) TCCCTGTTTTAAGAAGAAGTT 0.348 90 262 --- --- --- --- WASF3 10810 broad.mit.edu 37 13 27250862 27250863 + Splice_Site DEL GT GT - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr13:27250862_27250863delGT ENST00000335327.5 + 7 894 c.e7+1 WASF3_ENST00000361042.4_Intron NM_006646.5 NP_006637.2 Q9UPY6 WASF3_HUMAN WAS protein family, member 3 actin filament polymerization cytoplasm|cytoskeleton actin binding breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2) 22 Colorectal(5;0.000247) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155) CAGATACTAGGTGTGTGTGTGT 0.475 7 517 --- --- --- --- GSX1 219409 broad.mit.edu 37 13 28367927 28367929 + In_Frame_Del DEL GGC GGC - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr13:28367927_28367929delGGC ENST00000302945.2 + 2 685_687 c.637_639delGGC c.(637-639)del p.G218del NM_145657.1 NP_663632.1 Q9H4S2 GSX1_HUMAN GS homeobox 1 218 Poly-Gly. positive regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(1)|lung(1)|ovary(1) 4 Lung SC(185;0.0161) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197) CAACCATCgtggcggcggcggcg 0.631 9 414 --- --- --- --- SUPT20H 55578 broad.mit.edu 37 13 37583899 37583901 + In_Frame_Del DEL TGC TGC - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr13:37583899_37583901delTGC ENST00000360252.4 - 25 2394_2396 c.2147_2149delGCA c.(2146-2151)aca>a p.ST716del SUPT20H_ENST00000475892.1_In_Frame_Del_p.ST794del|SUPT20H_ENST00000356185.3_In_Frame_Del_p.ST716del|SUPT20H_ENST00000350612.6_In_Frame_Del_p.A750del|SUPT20H_ENST00000464744.1_In_Frame_Del_p.ST716del NM_001278481.1|NM_001278482.1|NM_017569.3 NP_001265410.1|NP_001265411.1|NP_060039.1 suppressor of Ty 20 homolog (S. cerevisiae) GAGCTGTTTGTGCTGCTGCTGCT 0.448 7 737 --- --- --- --- TSC22D1 8848 broad.mit.edu 37 13 45148691 45148693 + In_Frame_Del DEL TGT TGT - rs148625973 TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr13:45148691_45148693delTGT ENST00000458659.2 - 1 2008_2010 c.1518_1520delACA c.(1516-1521)cag>ca p.QQ508del TSC22D1_ENST00000501704.2_In_Frame_Del_p.QQ508del NM_183422.3 NP_904358.2 Q15714 T22D1_HUMAN TSC22 domain family, member 1 508 Gln-rich. transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding transcription factor activity breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118) TGgttgttgctgttgttgttgtt 0.502 9 813 --- --- --- --- TSC22D1 8848 broad.mit.edu 37 13 45148706 45148708 + In_Frame_Del DEL TGC TGC - rs112613609 TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr13:45148706_45148708delTGC ENST00000458659.2 - 1 1993_1995 c.1503_1505delGCA c.(1501-1506)caa>ca p.QQ507del TSC22D1_ENST00000501704.2_In_Frame_Del_p.QQ507del NM_183422.3 NP_904358.2 Q15714 T22D1_HUMAN TSC22 domain family, member 1 507 Gln-rich. transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding transcription factor activity breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118) ttgttgttgttgctgctgctgct 0.507 10 772 --- --- --- --- DIS3 22894 broad.mit.edu 37 13 73337684 73337684 + Frame_Shift_Del DEL T T - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr13:73337684delT ENST00000377767.4 - 16 2132 c.2032delA c.(2032-2034)ttfs p.I678fs DIS3_ENST00000377780.4_Frame_Shift_Del_p.I648fs|DIS3_ENST00000545453.1_Frame_Shift_Del_p.I516fs NM_014953.3 NP_055768.3 Q9Y2L1 RRP44_HUMAN DIS3 mitotic control homolog (S. cerevisiae) 678 CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing cytosol|exosome (RNase complex)|nucleolus|nucleoplasm 3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1) 35 Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195) GBM - Glioblastoma multiforme(99;0.000181) TCCTCATGAATTTTTTTTGCA 0.358 Multiple Myeloma(4;0.011) 7 430 --- --- --- --- LMO7 4008 broad.mit.edu 37 13 76415307 76415308 + Frame_Shift_Del DEL AG AG - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr13:76415307_76415308delAG ENST00000357063.3 + 24 5061_5062 c.3801_3802delAG c.(3799-3804)gcagfs p.AE1267fs LMO7_ENST00000321797.8_Frame_Shift_Del_p.AE982fs|LMO7_ENST00000341547.4_Frame_Shift_Del_p.AE933fs|LMO7_ENST00000526202.1_Frame_Shift_Del_p.AE859fs|LMO7_ENST00000377534.3_Frame_Shift_Del_p.AE1267fs|LMO7_ENST00000465261.2_Frame_Shift_Del_p.AE982fs Q8WWI1 LMO7_HUMAN LIM domain 7 1267 cytoplasm|nucleus|ubiquitin ligase complex ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 Breast(118;0.0992) GBM - Glioblastoma multiforme(99;0.0109) AACAGGAGGCAGAGAGAGAGAA 0.386 7 496 --- --- --- --- KDELC1 79070 broad.mit.edu 37 13 103443722 103443722 + Frame_Shift_Del DEL T T - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr13:103443722delT ENST00000376004.4 - 5 1067 c.731delA c.(730-732)agfs p.K245fs KDELC1_ENST00000460338.1_5'UTR NM_024089.2 NP_076994.2 Q6UW63 KDEL1_HUMAN KDEL (Lys-Asp-Glu-Leu) containing 1 245 endoplasmic reticulum lumen central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1) 19 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) ATTGGATTTCTTTTTTTCCAA 0.418 7 1682 --- --- --- --- TOX4 9878 broad.mit.edu 37 14 21961060 21961062 + In_Frame_Del DEL GCT GCT - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr14:21961060_21961062delGCT ENST00000405508.1 + 8 1561_1563 c.1285_1287delGCT c.(1285-1287)del p.A434del TOX4_ENST00000448790.2_In_Frame_Del_p.A411del|TOX4_ENST00000262709.3_In_Frame_Del_p.A434del O94842 TOX4_HUMAN TOX high mobility group box family member 4 434 Gln/Pro-rich.|Poly-Ala. chromatin|nucleus|PTW/PP1 phosphatase complex DNA binding|protein binding p.A429A(1) large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_cancers(95;0.000465) Epithelial(56;6.61e-06)|all cancers(55;5.15e-05) GBM - Glioblastoma multiforme(265;0.0149) GGCAGCAGCAGCTGCTGCTGCTG 0.581 8 1162 --- --- --- --- LRP10 26020 broad.mit.edu 37 14 23341527 23341529 + In_Frame_Del DEL CCT CCT - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr14:23341527_23341529delCCT ENST00000359591.4 + 1 706_708 c.15_17delCCT c.(13-18)acc>ac p.TL5del LRP10_ENST00000546834.1_In_Frame_Del_p.TL5del NM_014045.3 NP_054764.2 Q7Z4F1 LRP10_HUMAN low density lipoprotein receptor-related protein 10 5 endocytosis coated pit|integral to membrane central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2) 32 all_cancers(95;4.69e-05) GBM - Glioblastoma multiforme(265;0.00549) TGTTGGCCACCCTCCTCCTCCTC 0.670 30 660 --- --- --- --- ACIN1 22985 broad.mit.edu 37 14 23528607 23528609 + In_Frame_Del DEL TCT TCT - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr14:23528607_23528609delTCT ENST00000262710.1 - 19 4101_4103 c.3774_3776delAGA c.(3772-3777)gag>ga p.EE1258del ACIN1_ENST00000605057.1_In_Frame_Del_p.EE1200del|ACIN1_ENST00000555053.1_In_Frame_Del_p.EE1245del|ACIN1_ENST00000557515.1_In_Frame_Del_p.EE499del|ACIN1_ENST00000338631.6_In_Frame_Del_p.EE531del|ACIN1_ENST00000357481.2_In_Frame_Del_p.EE500del|ACIN1_ENST00000397341.3_In_Frame_Del_p.EE500del|ACIN1_ENST00000457657.1_In_Frame_Del_p.EE1218del NM_001164814.1|NM_014977.3 NP_001158286.1|NP_055792.1 Q9UKV3 ACINU_HUMAN apoptotic chromatin condensation inducer 1 1258 Arg/Asp/Glu/Lys-rich. apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation cytosol ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 37 all_cancers(95;1.36e-05) GBM - Glioblastoma multiforme(265;0.00816) ctccttttgctcttcttcttctt 0.601 7 377 --- --- --- --- KIAA0391 9692 broad.mit.edu 37 14 35592700 35592700 + Frame_Shift_Del DEL T T - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr14:35592700delT ENST00000557565.1 + 2 630 c.249delT c.(247-249)cafs p.H83fs KIAA0391_ENST00000534898.4_Frame_Shift_Del_p.H83fs|KIAA0391_ENST00000605870.1_Intron|KIAA0391_ENST00000604948.1_Intron|KIAA0391_ENST00000603544.1_Frame_Shift_Del_p.H83fs|KIAA0391_ENST00000603588.1_Intron|KIAA0391_ENST00000321130.10_Frame_Shift_Del_p.H83fs|KIAA0391_ENST00000250377.7_5'UTR O15091 MRRP3_HUMAN KIAA0391 83 tRNA processing mitochondrion central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 14 Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184) Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277) GBM - Glioblastoma multiforme(112;0.0593) CTGTTCCTCATTTTTTTTTAG 0.423 13 331 --- --- --- --- FANCM 57697 broad.mit.edu 37 14 45642288 45642289 + Frame_Shift_Del DEL CT CT - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr14:45642288_45642289delCT ENST00000267430.5 + 13 2276_2277 c.2191_2192delCT c.(2191-2193)cfs p.L731fs FANCM_ENST00000542564.2_Frame_Shift_Del_p.L705fs NM_020937.2 NP_065988.1 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M 731 DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 85 AATTCATCAACTCTCTCTCTCT 0.347 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 10 462 --- --- --- --- GALC 2581 broad.mit.edu 37 14 88406276 88406276 + Frame_Shift_Del DEL T T - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr14:88406276delT ENST00000261304.2 - 16 1990 c.1884delA c.(1882-1884)aafs p.K628fs GALC_ENST00000393568.4_Frame_Shift_Del_p.K605fs|GALC_ENST00000544807.2_Frame_Shift_Del_p.K572fs|GALC_ENST00000393569.2_Frame_Shift_Del_p.K602fs 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 1127 --- --- --- --- FOXN3 1112 broad.mit.edu 37 14 89629149 89629151 + In_Frame_Del DEL GAG GAG - rs139532153 TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr14:89629149_89629151delGAG ENST00000345097.4 - 7 1196_1198 c.1080_1082delCTC c.(1078-1083)tca>tc p.SS360del FOXN3_ENST00000261302.5_In_Frame_Del_p.SS360del|FOXN3_ENST00000555353.1_In_Frame_Del_p.SS338del|FOXN3_ENST00000557258.1_In_Frame_Del_p.SS338del NM_001085471.1 NP_001078940.1 O00409 FOXN3_HUMAN forkhead box N3 360 DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 GTCGTCGGCTGAGGAGGAGGAGG 0.650 13 314 --- --- --- --- CHGA 1113 broad.mit.edu 37 14 93397924 93397926 + In_Frame_Del DEL GAG GAG - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr14:93397924_93397926delGAG ENST00000216492.5 + 6 965_967 c.685_687delGAG c.(685-687)del p.E236del CHGA_ENST00000553866.1_3'UTR|CHGA_ENST00000334654.4_Intron NM_001275.3 NP_001266.1 P10645 CMGA_HUMAN chromogranin A (parathyroid secretory protein 1) 236 regulation of blood pressure extracellular region|stored secretory granule cervix(1)|large_intestine(1)|lung(3)|skin(3) 8 all_cancers(154;0.0843) Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224) AAAGAGAgaagaggaggaggagg 0.645 8 230 --- --- --- --- DDX24 57062 broad.mit.edu 37 14 94517596 94517598 + In_Frame_Del DEL TCT TCT - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr14:94517596_94517598delTCT ENST00000330836.5 - 9 2650_2652 c.2519_2521delAGA c.(2518-2523)aca>a p.KT840del DDX24_ENST00000553400.1_5'UTR|DDX24_ENST00000544005.1_In_Frame_Del_p.KT590del|DDX24_ENST00000555054.1_In_Frame_Del_p.KT797del NM_020414.3 NP_065147.1 Q9GZR7 DDX24_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 24 840 Poly-Lys. RNA metabolic process cytoplasm|nucleolus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1) 23 all_cancers(154;0.12) Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207) GGCTTCTTTGTCTTCTTCTTCTT 0.512 OREG0022891 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 636 --- --- --- --- DDX24 57062 broad.mit.edu 37 14 94545821 94545823 + In_Frame_Del DEL CCT CCT - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr14:94545821_94545823delCCT ENST00000330836.5 - 2 397_399 c.266_268delAGG c.(265-270)gga>g p.EG89del DDX24_ENST00000544005.1_Intron|DDX24_ENST00000555054.1_In_Frame_Del_p.EG46del NM_020414.3 NP_065147.1 Q9GZR7 DDX24_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 24 89 Poly-Glu. RNA metabolic process cytoplasm|nucleolus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1) 23 all_cancers(154;0.12) Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207) CTAGACTTTCCCTCCTCCTCCTC 0.443 8 805 --- --- --- --- SYNE3 161176 broad.mit.edu 37 14 95921888 95921890 + In_Frame_Del DEL CTC CTC - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr14:95921888_95921890delCTC ENST00000334258.5 - 5 975_977 c.961_963delGAG c.(961-963)del p.E321del SYNE3_ENST00000554873.1_In_Frame_Del_p.E78del|SYNE3_ENST00000553340.1_In_Frame_Del_p.E321del|SYNE3_ENST00000557275.1_In_Frame_Del_p.E321del NM_152592.3 NP_689805.3 spectrin repeat containing, nuclear envelope family member 3 breast(1)|endometrium(2)|lung(25) 28 CCCGCAGCCGCTCCTCCTCCTCC 0.616 15 851 --- --- --- --- INF2 64423 broad.mit.edu 37 14 105174270 105174271 + Frame_Shift_Ins INS - - G TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr14:105174270_105174271insG ENST00000392634.4 + 8 1778_1779 c.1666_1667insG c.(1666-1668)ggtfs p.G556fs INF2_ENST00000330634.7_Frame_Shift_Ins_p.G556fs NM_022489.3 NP_071934.3 Q27J81 INF2_HUMAN inverted formin, FH2 and WH2 domain containing 556 FH2. actin cytoskeleton organization endoplasmic reticulum|nucleus|perinuclear region of cytoplasm actin binding|Rho GTPase binding large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172) all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116) Epithelial(152;0.176) CAGCCATCGGCGGGTGAACCCA 0.663 7 464 --- --- --- --- RP11-69H14.6 0 broad.mit.edu 37 15 22332412 22332413 + RNA INS - - A TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr15:22332412_22332413insA ENST00000558896.1 + 0 219_220 TTGGCTTGATGAAAAAAAACAA 0.322 8 547 --- --- --- --- SNHG14 0 broad.mit.edu 37 15 25456925 25456925 + RNA DEL G G - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr15:25456925delG ENST00000424208.1 + 0 2516 SNHG14_ENST00000450809.1_RNA|SNHG14_ENST00000424333.1_RNA NR_003305.1 TGTGTGGGCAGGGGGGGTGCC 0.557 13 1315 --- --- --- --- APBA2 321 broad.mit.edu 37 15 29346361 29346363 + In_Frame_Del DEL GAG GAG - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr15:29346361_29346363delGAG ENST00000558402.1 + 5 873_875 c.274_276delGAG c.(274-276)del p.E95del APBA2_ENST00000558330.1_In_Frame_Del_p.E95del|APBA2_ENST00000558259.1_In_Frame_Del_p.E95del|APBA2_ENST00000411764.1_In_Frame_Del_p.E95del|APBA2_ENST00000561069.1_In_Frame_Del_p.E95del Q99767 APBA2_HUMAN amyloid beta (A4) precursor protein-binding, family A, member 2 95 Poly-Glu. nervous system development|protein transport protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1) 59 all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234) all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24) GGGCCTCCCTGAGGAGGAGGAGG 0.601 7 1111 --- --- --- --- RYR3 6263 broad.mit.edu 37 15 33962735 33962737 + In_Frame_Del DEL GGA GGA - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr15:33962735_33962737delGGA ENST00000389232.4 + 38 5908_5910 c.5838_5840delGGA c.(5836-5841)acg>ac p.TE1946del RYR3_ENST00000415757.3_In_Frame_Del_p.TE1946del NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 1946 4 X approximate repeats. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity p.T1946T(1) NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) AGCAGCCGACGGAGGAGGAGGAG 0.453 7 540 --- --- --- --- C15orf52 388115 broad.mit.edu 37 15 40631782 40631782 + Frame_Shift_Del DEL C C - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr15:40631782delC ENST00000559313.1 - 3 309 c.294delG c.(292-294)ggfs p.G98fs NM_207380.2 NP_997263.2 Q6ZUT6 CO052_HUMAN chromosome 15 open reading frame 52 98 p.M99fs*3(1) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1) 19 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841) TCACAGCCATCCCCCCCTGCT 0.647 8 639 --- --- --- --- SECISBP2L 9728 broad.mit.edu 37 15 49309051 49309051 + Frame_Shift_Del DEL T T - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr15:49309051delT ENST00000559471.1 - 10 1676 c.1413delA c.(1411-1413)aafs p.K471fs SECISBP2L_ENST00000261847.3_Frame_Shift_Del_p.K426fs NM_001193489.1 NP_001180418.1 Q93073 SBP2L_HUMAN SECIS binding protein 2-like 471 breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1) 46 GTACCTGTAATTTTTTTTGCT 0.353 7 271 --- --- --- --- SLTM 79811 broad.mit.edu 37 15 59182525 59182526 + Frame_Shift_Del DEL TC TC - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr15:59182525_59182526delTC ENST00000380516.2 - 15 2120_2121 c.2033_2034delGA c.(2032-2034)afs p.R678fs SLTM_ENST00000536328.1_Frame_Shift_Del_p.R247fs|AC025918.2_ENST00000452467.1_RNA NM_001013843.1|NM_024755.2 NP_001013865.1|NP_079031.2 Q9NWH9 SLTM_HUMAN SAFB-like, transcription modulator 678 Arg/Glu-rich. apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 CGCGTTCCATTCTCTCTCTCTC 0.431 23 1162 --- --- --- --- ZNF609 23060 broad.mit.edu 37 15 64967247 64967247 + Frame_Shift_Del DEL A A - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr15:64967247delA ENST00000326648.3 + 4 2322 c.2194delA c.(2194-2196)aafs p.K735fs NM_015042.1 NP_055857.1 O15014 ZN609_HUMAN zinc finger protein 609 735 Poly-Lys. nucleus zinc ion binding p.K734fs*12(1) breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 AAAGAAAGACAAAAAAAAGAA 0.488 12 1085 --- --- --- --- SNAPC5 10302 broad.mit.edu 37 15 66786799 66786801 + In_Frame_Del DEL TCC TCC - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr15:66786799_66786801delTCC ENST00000316634.5 - 3 351_353 c.270_272delGGA c.(268-273)gaa>ga p.EE94del SNAPC5_ENST00000563480.2_In_Frame_Del_p.EE94del|SNAPC5_ENST00000395589.2_In_Frame_Del_p.EE94del|SNAPC5_ENST00000307979.7_In_Frame_Del_p.EE64del|SNAPC5_ENST00000566658.1_3'UTR O75971 SNPC5_HUMAN small nuclear RNA activating complex, polypeptide 5, 19kDa 94 Poly-Glu. transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase III promoter nucleoplasm sequence-specific DNA binding transcription factor activity breast(1)|large_intestine(1) 2 ttcttcctcttcctcctcctcct 0.463 7 786 --- --- --- --- MESDC2 23184 broad.mit.edu 37 15 81271633 81271633 + Frame_Shift_Del DEL T T - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr15:81271633delT ENST00000261758.4 - 3 718 c.632delA c.(631-633)agfs p.K212fs NM_015154.1 NP_055969.1 Q14696 MESD_HUMAN mesoderm development candidate 2 212 mesoderm development|protein folding|Wnt receptor signaling pathway endoplasmic reticulum p.K211fs*6(1) cervix(1)|large_intestine(5)|ovary(1)|urinary_tract(1) 8 TCCTTCCTTCTTTTTTTTGCC 0.493 10 539 --- --- --- --- VPS33B 26276 broad.mit.edu 37 15 91550236 91550238 + In_Frame_Del DEL TCC TCC - rs147271815 TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr15:91550236_91550238delTCC ENST00000333371.3 - 9 995_997 c.642_644delGGA c.(640-645)gat>ga p.ED214del VPS33B_ENST00000535906.1_In_Frame_Del_p.ED187del|VPS33B_ENST00000535843.1_In_Frame_Del_p.ED123del NM_018668.3 NP_061138.3 Q9H267 VP33B_HUMAN vacuolar protein sorting 33 homolog B (yeast) 214 cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule protein binding central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2) 16 Lung NSC(78;0.0987)|all_lung(78;0.175) GGTTTCGCCATCCTCCTCCTCCT 0.522 9 1075 --- --- --- --- RP11-266O8.1 0 broad.mit.edu 37 15 93974510 93974510 + RNA DEL C C - rs57286078 TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr15:93974510delC ENST00000543286.1 + 0 545 TGGCTGGGTTCtttttttttt 0.433 19 190 --- --- --- --- CHSY1 22856 broad.mit.edu 37 15 101717648 101717648 + Frame_Shift_Del DEL T T - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr15:101717648delT ENST00000254190.3 - 3 2829 c.2354delA c.(2353-2355)atfs p.N785fs CHSY1_ENST00000543813.1_5'UTR NM_014918.4 NP_055733.2 Q86X52 CHSS1_HUMAN chondroitin sulfate synthase 1 785 chondroitin sulfate biosynthetic process Golgi cisterna membrane|integral to membrane glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1) 24 Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) ACTTGGATCATTTTTTTCCAG 0.428 9 595 --- --- --- --- WDR90 197335 broad.mit.edu 37 16 709106 709106 + Frame_Shift_Del DEL C C - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr16:709106delC ENST00000549091.1 + 25 3124 c.3032delC c.(3031-3033)gcfs p.A1011fs WDR90_ENST00000293879.4_Frame_Shift_Del_p.A1011fs NM_145294.4 NP_660337.3 Q96KV7 WDR90_HUMAN WD repeat domain 90 1011 endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 37 Hepatocellular(780;0.0218) TTCCCCGGGGCCCCCCCAGCC 0.657 9 826 --- --- --- --- NAGPA 51172 broad.mit.edu 37 16 5083678 5083679 + Frame_Shift_Del DEL GC GC - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr16:5083678_5083679delGC ENST00000312251.3 - 2 156_157 c.137_138delGC c.(136-138)cfs p.R46fs NAGPA_ENST00000381955.3_Frame_Shift_Del_p.R46fs|RP11-165E7.1_ENST00000588778.1_RNA|NAGPA_ENST00000564922.1_5'UTR NM_016256.3 NP_057340.2 Q9UK23 NAGPA_HUMAN N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase 46 carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome Golgi cisterna membrane|integral to membrane N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1) 12 N-Acetyl-D-glucosamine(DB00141) CCCGGGGGAGGCGCGCGCGCGC 0.767 9 141 --- --- --- --- KIAA0430 9665 broad.mit.edu 37 16 15729982 15729984 + In_Frame_Del DEL CCA CCA - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr16:15729982_15729984delCCA ENST00000396368.3 - 3 566_568 c.360_362delTGG c.(358-363)ggc>gg p.GG120del KIAA0430_ENST00000540441.2_In_Frame_Del_p.GG120del|KIAA0430_ENST00000344181.3_5'UTR|KIAA0430_ENST00000551742.1_In_Frame_Del_p.GG120del|KIAA0430_ENST00000548025.1_In_Frame_Del_p.GG120del|KIAA0430_ENST00000602337.1_In_Frame_Del_p.GG120del NM_001184998.1|NM_001184999.1|NM_014647.3 NP_001171927.1|NP_001171928.1|NP_055462.2 Q9Y4F3 LKAP_HUMAN KIAA0430 119 Poly-Gly. peroxisome nucleotide binding|RNA binding breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1) 40 TCCGCTACCGCCACCACCACCAC 0.532 8 945 --- --- --- --- RP11-368J21.3 0 broad.mit.edu 37 16 22579763 22579764 + RNA DEL TT TT - rs112473041 by1000genomes TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr16:22579763_22579764delTT ENST00000550753.1 + 0 1976 NR_003676.2 tgtgtgtgtgtttgtttgtTTT 0.505 7 357 --- --- --- --- CD2BP2 10421 broad.mit.edu 37 16 30365550 30365552 + In_Frame_Del DEL CAT CAT - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr16:30365550_30365552delCAT ENST00000305596.3 - 3 345_347 c.170_172delATG c.(169-174)ggg>g p.DG57del CD2BP2_ENST00000569466.1_In_Frame_Del_p.DG57del NM_006110.2 NP_006101.1 O95400 CD2B2_HUMAN CD2 (cytoplasmic tail) binding protein 2 57 assembly of spliceosomal tri-snRNP cytoplasm|nucleoplasm|U5 snRNP protein binding|ribonucleoprotein binding breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1) 15 CTGGACCCCCCATCATCATCATC 0.532 10 2253 --- --- --- --- IRX6 79190 broad.mit.edu 37 16 55362674 55362676 + In_Frame_Del DEL GAG GAG - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr16:55362674_55362676delGAG ENST00000290552.7 + 5 2116_2118 c.784_786delGAG c.(784-786)del p.E268del RP11-26L20.3_ENST00000558730.2_RNA NM_024335.2 NP_077311.2 P78412 IRX6_HUMAN iroquois homeobox 6 268 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 33 CCTggaggaagaggaggaggagg 0.626 16 533 --- --- --- --- MT1L 4500 broad.mit.edu 37 16 56652490 56652490 + RNA DEL T T - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr16:56652490delT ENST00000565768.1 + 0 181 NR_001447.2 metallothionein 1L (gene/pseudogene) TCACTCTCCCTTTTCCCCCAG 0.607 8 1598 --- --- --- --- COQ9 57017 broad.mit.edu 37 16 57486732 57486734 + In_Frame_Del DEL GAG GAG - rs149029279 TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr16:57486732_57486734delGAG ENST00000262507.6 + 3 331_333 c.262_264delGAG c.(262-264)del p.E91del COQ9_ENST00000567384.1_3'UTR|COQ9_ENST00000567072.1_In_Frame_Del_p.E91del|COQ9_ENST00000567933.1_In_Frame_Del_p.E91del NM_020312.3 NP_064708.1 O75208 COQ9_HUMAN coenzyme Q9 91 ubiquinone biosynthetic process mitochondrion breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1) 16 CCAGGGCGGCGAGGAGGAGGAGG 0.576 18 959 --- --- --- --- RANBP10 57610 broad.mit.edu 37 16 67763279 67763281 + In_Frame_Del DEL GAG GAG - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr16:67763279_67763281delGAG ENST00000317506.3 - 10 1369_1371 c.1254_1256delCTC c.(1252-1257)tcg>tc p.SS420del RANBP10_ENST00000448631.2_In_Frame_Del_p.SS364del|RANBP10_ENST00000536251.1_In_Frame_Del_p.SS191del|RANBP10_ENST00000602677.1_In_Frame_Del_p.SS420del|RANBP10_ENST00000411657.2_In_Frame_Del_p.SS303del NM_020850.1 NP_065901.1 Q6VN20 RBP10_HUMAN RAN binding protein 10 420 Ser-rich. p.S418S(2) endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1) 23 Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157) ggaagaggacgaggaggaggagg 0.567 11 412 --- --- --- --- EDC4 23644 broad.mit.edu 37 16 67913786 67913788 + In_Frame_Del DEL AGC AGC - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr16:67913786_67913788delAGC ENST00000358933.5 + 16 2094_2096 c.1855_1857delAGC c.(1855-1857)del p.S629del NM_014329.4 NP_055144.3 Q6P2E9 EDC4_HUMAN enhancer of mRNA decapping 4 629 Ser-rich. exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|nucleus protein binding breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) cagcagcggtagcagcagcagca 0.616 10 546 --- --- --- --- PSMB10 5699 broad.mit.edu 37 16 67968781 67968781 + Frame_Shift_Del DEL C C - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr16:67968781delC ENST00000358514.4 - 7 966 c.629delG c.(628-630)gcfs p.G210fs CTC-479C5.12_ENST00000573493.1_3'UTR NM_002801.3 NP_002792.1 P40306 PSB10_HUMAN proteasome (prosome, macropain) subunit, beta type, 10 210 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|humoral immune response|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex threonine-type endopeptidase activity NS(2)|endometrium(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 6 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00415)|Epithelial(162;0.0182)|all cancers(182;0.119) GTCCACATTGCCCCCGGAGCC 0.637 7 1755 --- --- --- --- CDH3 1001 broad.mit.edu 37 16 68718504 68718504 + Frame_Shift_Del DEL A A - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr16:68718504delA ENST00000264012.4 + 10 1745 c.1201delA c.(1201-1203)aafs p.K401fs CDH3_ENST00000429102.2_Frame_Shift_Del_p.K401fs|CDH3_ENST00000581171.1_Frame_Shift_Del_p.K346fs NM_001793.4 NP_001784.2 P22223 CADH3_HUMAN cadherin 3, type 1, P-cadherin (placental) 401 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception integral to membrane calcium ion binding p.?(2) NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1) 25 Ovarian(137;0.0564) OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384) TTTTGAGGCCAAAAACCAGCA 0.522 7 2480 --- --- --- --- HYDIN 54768 broad.mit.edu 37 16 71220808 71220808 + Frame_Shift_Del DEL T T - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr16:71220808delT ENST00000538248.1 - 2 106 c.72delA c.(70-72)aafs p.K24fs HYDIN_ENST00000288168.10_Frame_Shift_Del_p.K14fs|HYDIN_ENST00000393567.2_5'UTR|HYDIN_ENST00000448089.2_5'UTR|HYDIN_ENST00000321489.5_5'UTR|HYDIN_ENST00000393550.2_5'UTR|HYDIN_ENST00000541601.1_Frame_Shift_Del_p.K14fs|HYDIN_ENST00000448691.1_5'UTR NM_001198542.1 NP_001185471.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 0 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) TTTTTAGTAATTTTTTTTTCT 0.333 10 441 --- --- --- --- ZFHX3 463 broad.mit.edu 37 16 72831197 72831199 + In_Frame_Del DEL TGC TGC - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr16:72831197_72831199delTGC ENST00000268489.5 - 9 6054_6056 c.5382_5384delGCA c.(5380-5385)cac>ca p.QH1794del ZFHX3_ENST00000397992.5_In_Frame_Del_p.QH880del NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 1794 Poly-Gln. muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) GAAGAGGAGGTGCTGCTGCTGCT 0.576 11 944 --- --- --- --- ZFHX3 463 broad.mit.edu 37 16 72991713 72991715 + In_Frame_Del DEL CCA CCA - rs4788682 by1000genomes TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr16:72991713_72991715delCCA ENST00000268489.5 - 2 3002_3004 c.2330_2332delTGG c.(2329-2334)gct>g p.VA777del ZFHX3_ENST00000397992.5_Intron NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 777 Poly-Ala. V -> A (in dbSNP:rs4788682). muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding p.V777V(1) NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) gccgccgcagccaccgccgccgc 0.635 7 425 --- --- --- --- ZCCHC14 23174 broad.mit.edu 37 16 87445610 87445612 + In_Frame_Del DEL TGG TGG - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr16:87445610_87445612delTGG ENST00000268616.4 - 12 2521_2523 c.2304_2306delCCA c.(2302-2307)cat>ca p.HH768del NM_015144.2 NP_055959.1 Q8WYQ9 ZCH14_HUMAN zinc finger, CCHC domain containing 14 768 His-rich. cell communication nucleic acid binding|phosphatidylinositol binding|zinc ion binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 BRCA - Breast invasive adenocarcinoma(80;0.0285) GGGCTGCtgatggtggtggtggt 0.665 18 542 --- --- --- --- RP11-863P13.2 0 broad.mit.edu 37 16 88226611 88226611 + RNA DEL G G - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr16:88226611delG ENST00000568587.1 - 0 91 tggtggtgatggtggtgatgg 0.522 7 79 --- --- --- --- C17orf74 201243 broad.mit.edu 37 17 7329686 7329688 + In_Frame_Del DEL CGC CGC - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr17:7329686_7329688delCGC ENST00000333870.3 + 3 450_452 c.376_378delCGC c.(376-378)del p.R130del RP11-104H15.7_ENST00000575310.1_RNA|C17orf74_ENST00000574034.1_Intron NM_175734.4 NP_783861.3 Q0P670 CQ074_HUMAN chromosome 17 open reading frame 74 130 Arg-rich. integral to membrane cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 22 Prostate(122;0.157) CTGTGTTcgtcgccgccgccgcc 0.606 8 610 --- --- --- --- PIK3R5 23533 broad.mit.edu 37 17 8792116 8792118 + In_Frame_Del DEL CCT CCT - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr17:8792116_8792118delCCT ENST00000447110.1 - 10 1110_1112 c.986_988delAGG c.(985-990)gtg>g p.EV329del PIK3R5_ENST00000584803.1_In_Frame_Del_p.EV329del|PIK3R5_ENST00000581552.1_In_Frame_Del_p.EV329del NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1 NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1 Q8WYR1 PI3R5_HUMAN phosphoinositide-3-kinase, regulatory subunit 5 329 DILQEILLKEQELLQPGILGDDEEEEEEEEEVEEDLETDGH CAERDSLLSTSSLASHDSTLSLASSQASG -> GNIEGDPG PRRPDSAGLASLQTSCRKSCSRNRSYSSQGSWEMMKRRERR RRRWRRTWKLTGTVPREIPCS (in Ref. 6; AAW63121). platelet activation cytosol|membrane|nucleus breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1) 34 tcctcctccacctcctcctcctc 0.571 9 193 --- --- --- --- MYOCD 93649 broad.mit.edu 37 17 12647692 12647694 + In_Frame_Del DEL CAG CAG - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr17:12647692_12647694delCAG ENST00000425538.1 + 8 1110_1112 c.910_912delCAG c.(910-912)del p.Q310del MYOCD_ENST00000395988.1_In_Frame_Del_p.Q214del|MYOCD_ENST00000343344.4_In_Frame_Del_p.Q310del NM_001146312.1|NM_153604.2 NP_001139784.1|NP_705832.1 Q8IZQ8 MYCD_HUMAN myocardin 310 Gln-rich. cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) AATCCTCAGCcagcagcagcagc 0.596 8 232 --- --- --- --- MED9 55090 broad.mit.edu 37 17 17394705 17394707 + In_Frame_Del DEL CAG CAG - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr17:17394705_17394707delCAG ENST00000268711.3 + 2 393_395 c.337_339delCAG c.(337-339)del p.Q117del NM_018019.2 NP_060489.1 Q9NWA0 MED9_HUMAN mediator complex subunit 9 117 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent protein binding cervix(1)|endometrium(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 7 GAGCCCCGAACAGCAGCAGCAGC 0.581 7 652 --- --- --- --- TIAF1 9220 broad.mit.edu 37 17 27401055 27401056 + Frame_Shift_Del DEL CA CA - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr17:27401055_27401056delCA ENST00000359450.6 - 1 4819_4820 c.162_163delTG c.(160-165)tggafs p.CG54fs MYO18A_ENST00000533112.1_3'UTR|MYO18A_ENST00000527372.1_3'UTR|MYO18A_ENST00000354329.4_3'UTR|TIAF1_ENST00000408971.2_Frame_Shift_Del_p.CG54fs|MYO18A_ENST00000531253.1_3'UTR|MYO18A_ENST00000529578.1_5'UTR NM_004740.3 NP_004731.2 O95411 TIAF1_HUMAN TGFB1-induced anti-apoptotic factor 1 54 anti-apoptosis|apoptosis|I-kappaB kinase/NF-kappaB cascade nucleus kidney(1)|lung(1)|urinary_tract(1) 3 Lung NSC(42;0.015) Epithelial(11;1.19e-05)|all cancers(11;6.57e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000153)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031) GCGGATGGTCCACACACACACT 0.564 9 723 --- --- --- --- NUFIP2 57532 broad.mit.edu 37 17 27620990 27620992 + In_Frame_Del DEL GCT GCT - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr17:27620990_27620992delGCT ENST00000225388.4 - 1 144_146 c.86_88delAGC c.(85-90)ccg>c p.QP29del NUFIP2_ENST00000579665.1_In_Frame_Del_p.QP29del NM_020772.2 NP_065823.1 Q7Z417 NUFP2_HUMAN nuclear fragile X mental retardation protein interacting protein 2 29 His-rich. nucleus|polysomal ribosome protein binding|RNA binding breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1) 24 BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551) tggtggtgcggctgctgctgctg 0.591 17 511 --- --- --- --- KRTAP4-1 85285 broad.mit.edu 37 17 39340796 39340852 + In_Frame_Del DEL CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG - rs483929 by1000genomes TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr17:39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG ENST00000398472.1 - 1 742_798 c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG c.(253-312)cgt>cg p.RPLCCQTTCHPSCGMSSCCR85del Q9BYQ7 KRA41_HUMAN keratin associated protein 4-1 85 18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL]. Missing (in allele KAP4.10). keratin filament p.H90_C108delHPSCGMSSCCRPLCCQTTC(2)|p.H94_C112delHPSCGMSSCCRPLCCQTTC(2) kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 5 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000449) ACAGAGTGGACGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGGCGGCAGCAGC 0.646 111 593 --- --- --- --- RP11-156P1.3 0 broad.mit.edu 37 17 45127218 45127219 + RNA DEL AC AC - rs114929602 by1000genomes TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr17:45127218_45127219delAC ENST00000575173.1 - 0 418 TGGAAAGACAACACACACACTA 0.455 38 510 --- --- --- --- HOXB2 3212 broad.mit.edu 37 17 46622130 46622132 + In_Frame_Del DEL AGG AGG - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr17:46622130_46622132delAGG ENST00000330070.4 - 1 1309_1311 c.142_144delCCT c.(142-144)del p.P48del HOXB-AS1_ENST00000504972.3_RNA|HOXB-AS1_ENST00000435312.1_RNA NM_002145.3 NP_002136.1 P14652 HXB2_HUMAN homeobox B2 48 blood circulation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 11 TTTGCTCGAAAGGAGGAGGAGGA 0.596 7 676 --- --- --- --- BZRAP1 9256 broad.mit.edu 37 17 56387404 56387406 + In_Frame_Del DEL TCC TCC - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr17:56387404_56387406delTCC ENST00000355701.3 - 21 4683_4685 c.3813_3815delGGA c.(3811-3816)gaa>ga p.EE1273del BZRAP1_ENST00000343736.4_In_Frame_Del_p.EE1273del|BZRAP1_ENST00000268893.6_In_Frame_Del_p.EE1213del NM_001261835.1|NM_004758.3 NP_001248764.1|NP_004749.2 O95153 RIMB1_HUMAN benzodiazapine receptor (peripheral) associated protein 1 1273 Poly-Glu. mitochondrion benzodiazepine receptor binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Medulloblastoma(34;0.127)|all_neural(34;0.237) CAGctcctcttcctcctcctcct 0.586 9 433 --- --- --- --- LRRC37A16P 0 broad.mit.edu 37 17 66141015 66141016 + RNA INS - - A TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr17:66141015_66141016insA ENST00000590019.1 - 0 70 CCAAGATTTCTACAAAAAAAAA 0.322 9 238 --- --- --- --- CDC42EP4 23580 broad.mit.edu 37 17 71281585 71281587 + In_Frame_Del DEL TCC TCC - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr17:71281585_71281587delTCC ENST00000335793.3 - 2 1447_1449 c.1053_1055delGGA c.(1051-1056)gat>ga p.ED351del CDC42EP4_ENST00000581014.1_3'UTR|CDC42EP4_ENST00000439510.2_In_Frame_Del_p.ED281del Q9H3Q1 BORG4_HUMAN CDC42 effector protein (Rho GTPase binding) 4 351 positive regulation of pseudopodium assembly|regulation of cell shape actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton GTP-Rho binding cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1) 14 LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711) ACGGATTTCATCCTCCTCCTCCT 0.640 12 815 --- --- --- --- GPRC5C 0 broad.mit.edu 37 17 72436565 72436567 + In_Frame_Del DEL TGC TGC - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr17:72436565_72436567delTGC ENST00000392627.1 + 2 1911_1913 c.785_787delTGC c.(784-789)atg>a p.ML262del GPRC5C_ENST00000481232.1_Intron|GPRC5C_ENST00000392629.2_In_Frame_Del_p.ML229del|GPRC5C_ENST00000342648.5_Intron NM_022036.2 NP_071319.2 Q9NQ84 GPC5C_HUMAN G protein-coupled receptor, family C, group 5, member C 217 cytoplasmic vesicle membrane|integral to plasma membrane G-protein coupled receptor activity|protein binding central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1) 17 ATCTACGTCATGCTGCTGCTGCT 0.665 7 309 --- --- --- --- HEXDC 284004 broad.mit.edu 37 17 80398933 80398933 + Frame_Shift_Del DEL A A - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr17:80398933delA ENST00000337014.6 + 10 1517 c.1043delA c.(1042-1044)gafs p.E348fs HEXDC_ENST00000577944.1_Frame_Shift_Del_p.E348fs|HEXDC_ENST00000327949.9_Frame_Shift_Del_p.E348fs NM_173620.2 NP_775891.2 Q8WVB3 HEXDC_HUMAN hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing 348 carbohydrate metabolic process cytoplasm|nucleus beta-N-acetylhexosaminidase activity|cation binding breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1) 16 Breast(20;0.00106)|all_neural(118;0.0804) OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369) TCCAGCCTGGAAAAAACGGAC 0.577 8 2076 --- --- --- --- ROCK1 6093 broad.mit.edu 37 18 18608802 18608802 + Frame_Shift_Del DEL A A - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr18:18608802delA ENST00000399799.1 - 10 2086 c.1146delT c.(1144-1146)ccfs p.P382fs NM_005406.2 NP_005397.1 Q13464 ROCK1_HUMAN Rho-associated, coiled-coil containing protein kinase 1 382 AGC-kinase C-terminal.|Interaction with FHOD1. actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction centriole|cytosol|Golgi membrane ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2) 16 Melanoma(1;0.165) CTTTAGGAATAGGGAATGTTT 0.358 100 497 --- --- --- --- TRAPPC8 22878 broad.mit.edu 37 18 29453418 29453418 + Frame_Shift_Del DEL A A - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr18:29453418delA ENST00000283351.4 - 14 2372 c.2037delT c.(2035-2037)ttfs p.F679fs TRAPPC8_ENST00000582539.1_Frame_Shift_Del_p.F625fs NM_014939.3 NP_055754.2 Q9Y2L5 TPPC8_HUMAN trafficking protein particle complex 8 679 ER to Golgi vesicle-mediated transport cis-Golgi network breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 TGTCATGGCCAAAAAAAACCC 0.358 8 252 --- --- --- --- ONECUT2 9480 broad.mit.edu 37 18 55103477 55103479 + In_Frame_Del DEL CAC CAC - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr18:55103477_55103479delCAC ENST00000491143.2 + 1 561_563 c.529_531delCAC c.(529-531)del p.H184del NM_004852.2 NP_004843.2 O95948 ONEC2_HUMAN one cut homeobox 2 184 Poly-His. organ morphogenesis nucleus sequence-specific DNA binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1) 15 Colorectal(73;0.234) READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245) ccaccatccgcaccaccaccacc 0.655 8 88 --- --- --- --- MBD3 53615 broad.mit.edu 37 19 1578372 1578374 + In_Frame_Del DEL CTC CTC - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr19:1578372_1578374delCTC ENST00000590550.2 - 5 1046_1048 c.673_675delGAG c.(673-675)del p.E225del MBD3_ENST00000156825.1_In_Frame_Del_p.E281del|MBD3_ENST00000434436.3_In_Frame_Del_p.E281del|MBD3_ENST00000592012.1_In_Frame_Del_p.E249del O95983 MBD3_HUMAN methyl-CpG binding domain protein 3 281 transcription, DNA-dependent NuRD complex DNA binding|protein binding central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 8 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18) CCGGGTCGGGctcctcctcctcc 0.714 9 225 --- --- --- --- RETN 56729 broad.mit.edu 37 19 7734228 7734230 + In_Frame_Del DEL CTC CTC - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr19:7734228_7734230delCTC ENST00000221515.2 + 2 104_106 c.16_18delCTC c.(16-18)del p.L9del RETN_ENST00000381324.2_In_Frame_Del_p.L9del NM_001193374.1|NM_020415.3 NP_001180303.1|NP_065148.1 Q9HD89 RETN_HUMAN resistin 9 hormone activity ovary(1) 1 AGCTCTCTGTCTCCTCCTCCTCC 0.596 8 1207 --- --- --- --- CCDC151 115948 broad.mit.edu 37 19 11541818 11541818 + Frame_Shift_Del DEL A A - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr19:11541818delA ENST00000356392.4 - 2 354 c.267delT c.(265-267)ttfs p.F89fs CCDC151_ENST00000591179.1_Frame_Shift_Del_p.F89fs|CCDC151_ENST00000586836.1_5'UTR|CCDC151_ENST00000545100.1_Frame_Shift_Del_p.F35fs NM_145045.4 NP_659482.3 A5D8V7 CC151_HUMAN coiled-coil domain containing 151 89 endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1) 12 GAGAGCTCTCAAAAAAAGCCT 0.537 7 1207 --- --- --- --- ZNF442 79973 broad.mit.edu 37 19 12461741 12461741 + Frame_Shift_Del DEL A A - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr19:12461741delA ENST00000242804.4 - 6 1240 c.658delT c.(658-660)ggfs p.W220fs ZNF442_ENST00000438182.1_Frame_Shift_Del_p.W151fs NM_030824.2 NP_110451.1 Q9H7R0 ZN442_HUMAN zinc finger protein 442 220 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 31 AAACTAGGCCAAAAAAAGGCT 0.403 9 927 --- --- --- --- CCDC130 81576 broad.mit.edu 37 19 13873132 13873134 + In_Frame_Del DEL AGG AGG - rs148655062 byFrequency TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr19:13873132_13873134delAGG ENST00000586600.1 + 10 1096_1098 c.593_595delAGG c.(592-597)cag>c p.QE198del CCDC130_ENST00000221554.8_In_Frame_Del_p.QE198del|CCDC130_ENST00000587019.1_3'UTR P13994 CC130_HUMAN coiled-coil domain containing 130 198 response to virus protein binding endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1) 10 OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18) AAAGCCATCCAGGAGGAGGAGGA 0.586 9 864 --- --- --- --- CHERP 10523 broad.mit.edu 37 19 16633994 16633994 + Frame_Shift_Del DEL G G - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr19:16633994delG ENST00000546361.2 - 11 2000 c.1849delC c.(1849-1851)atfs p.H617fs CHERP_ENST00000544299.1_5'UTR|CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000198939.6_Frame_Shift_Del_p.H628fs NM_006387.5 NP_006378.3 Q8IWX8 CHERP_HUMAN calcium homeostasis endoplasmic reticulum protein 617 Pro-rich. cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing endoplasmic reticulum|perinuclear region of cytoplasm RNA binding endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3) 24 TTGAAGCCATGGGGGGGAGGG 0.672 8 885 --- --- --- --- SUGP2 10147 broad.mit.edu 37 19 19136394 19136394 + Frame_Shift_Del DEL T T - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr19:19136394delT ENST00000601879.1 - 3 1060 c.763delA c.(763-765)tafs p.I255fs SUGP2_ENST00000337018.6_Frame_Shift_Del_p.I255fs|SUGP2_ENST00000598202.1_5'UTR|SUGP2_ENST00000452918.2_Frame_Shift_Del_p.I255fs|SUGP2_ENST00000600377.1_Frame_Shift_Del_p.I269fs|SUGP2_ENST00000456085.2_Intron Q8IX01 SUGP2_HUMAN SURP and G patch domain containing 2 255 mRNA processing|RNA splicing nucleus RNA binding NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 ACGGTGGGTATTTTTTTTGTG 0.502 15 1053 --- --- --- --- C19orf12 83636 broad.mit.edu 37 19 30193878 30193879 + Frame_Shift_Ins INS - - C TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr19:30193878_30193879insC ENST00000323670.9 - 3 305_306 c.166_167insG c.(166-168)tgtfs p.C56fs C19orf12_ENST00000392276.1_5'UTR|C19orf12_ENST00000392275.1_5'UTR|C19orf12_ENST00000392278.2_Frame_Shift_Ins_p.C67fs|C19orf12_ENST00000592153.1_Frame_Shift_Ins_p.C56fs NM_001256047.1|NM_031448.4 NP_001242976.1|NP_113636.2 Q9NSK7 CS012_HUMAN chromosome 19 open reading frame 12 56 integral to membrane Ovarian(5;0.000567)|Breast(6;0.0203)|Esophageal squamous(110;0.239) UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0435)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.183) CCCCCCGACAGCCCCCCCTAGA 0.525 12 723 --- --- --- --- WDR88 126248 broad.mit.edu 37 19 33666419 33666421 + In_Frame_Del DEL TCA TCA - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr19:33666419_33666421delTCA ENST00000355868.3 + 11 1436_1438 c.1360_1362delTCA c.(1360-1362)del p.S458del WDR88_ENST00000361680.2_3'UTR NM_173479.3 NP_775750.3 Q6ZMY6 WDR88_HUMAN WD repeat domain 88 458 Poly-Ser. breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 25 Esophageal squamous(110;0.137) TACTTCATCGTCATCATCATCAT 0.527 7 854 --- --- --- --- SBSN 374897 broad.mit.edu 37 19 36019046 36019047 + Frame_Shift_Del DEL CT CT - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr19:36019046_36019047delCT ENST00000452271.2 - 1 165_166 c.137_138delAG c.(136-138)gfs p.E46fs SBSN_ENST00000518157.1_Frame_Shift_Del_p.E46fs NM_001166034.1 NP_001159506.1 Q6UWP8 SBSN_HUMAN suprabasin 46 extracellular region p.E46fs*27(1) large_intestine(5)|lung(6)|ovary(1)|prostate(2) 14 all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) CCTTGCCCACCTCTCTCTCTGC 0.579 7 1126 --- --- --- --- ATP4A 495 broad.mit.edu 37 19 36054349 36054351 + In_Frame_Del DEL CTT CTT - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr19:36054349_36054351delCTT ENST00000262623.3 - 2 119_121 c.91_93delAAG c.(91-93)del p.K31del NM_000704.2 NP_000695.2 P20648 ATP4A_HUMAN ATPase, H+/K+ exchanging, alpha polypeptide 31 ATP biosynthetic process|ATP hydrolysis coupled proton transport integral to plasma membrane ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 53 all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831) CGCCACCCGCCTTCTTCTTCTTG 0.601 7 1876 --- --- --- --- C19orf55 148137 broad.mit.edu 37 19 36255947 36255949 + In_Frame_Del DEL CTC CTC - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr19:36255947_36255949delCTC ENST00000544099.1 + 7 702_704 c.639_641delCTC c.(637-642)atc>at p.IS213del C19orf55_ENST00000396908.4_In_Frame_Del_p.IS213del Q2NL68 CS055_HUMAN chromosome 19 open reading frame 55 213 Ser-rich. cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1) 15 all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) AAGCCTCCATCTCCTCCTCCTCC 0.631 10 1491 --- --- --- --- ZNF585B 92285 broad.mit.edu 37 19 37681158 37681158 + Translation_Start_Site DEL T T - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr19:37681158delT ENST00000531805.1 - 0 220 ZNF585B_ENST00000532828.2_Intron|ZNF585B_ENST00000586320.1_Intron|ZNF585B_ENST00000527838.1_Intron|CTC-454I21.3_ENST00000585860.2_Intron Q52M93 Z585B_HUMAN zinc finger protein 585B regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1) 29 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) ATTTACTTCAttttttttttg 0.463 7 90 --- --- --- --- ZNF570 148268 broad.mit.edu 37 19 37975121 37975122 + Frame_Shift_Ins INS - - A TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr19:37975121_37975122insA ENST00000330173.1 + 5 1126_1127 c.597_598insA c.(595-600)ttaaaafs p.LK199fs ZNF570_ENST00000388801.3_5'UTR|ZNF570_ENST00000586475.1_Frame_Shift_Ins_p.LK255fs NM_144694.1 NP_653295.1 Q96NI8 ZN570_HUMAN zinc finger protein 570 199 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1) 27 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) AGAGAAGCTTTAAAAAAAATTT 0.366 12 951 --- --- --- --- RYR1 6261 broad.mit.edu 37 19 38948159 38948160 + Frame_Shift_Del DEL TG TG - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr19:38948159_38948160delTG ENST00000355481.4 + 17 1945_1946 c.1814_1815delTG c.(1813-1815)cfs p.L605fs RYR1_ENST00000360985.3_Frame_Shift_Del_p.L605fs|RYR1_ENST00000359596.3_Frame_Shift_Del_p.L605fs NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 605 B30.2/SPRY 1. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) CTATGCTCCCTGTGTGTGTGTA 0.530 12 1496 --- --- --- --- ZFP36 7538 broad.mit.edu 37 19 39898948 39898950 + In_Frame_Del DEL CAC CAC - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr19:39898948_39898950delCAC ENST00000597629.1 + 2 682_684 c.608_610delCAC c.(607-612)tca>t p.SP203del ZFP36_ENST00000248673.3_In_Frame_Del_p.SP197del P26651 TTP_HUMAN ZFP36 ring finger protein 197 positive regulation of nuclear-transcribed mRNA poly(A) tail shortening cytosol|nucleus AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding large_intestine(1)|lung(5)|pancreas(1) 7 all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512) Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657) CGCCGGACCTCACCACCACCACC 0.685 10 1564 --- --- --- --- C19orf47 126526 broad.mit.edu 37 19 40834399 40834399 + Frame_Shift_Del DEL G G - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr19:40834399delG ENST00000582783.1 - 6 483 c.471delC c.(469-471)ccfs p.P157fs C19orf47_ENST00000392035.2_Frame_Shift_Del_p.P90fs NM_001256440.1 NP_001243369.1 Q8N9M1 CS047_HUMAN chromosome 19 open reading frame 47 157 endometrium(5)|kidney(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 20 Lung(22;0.000636) CCGGGCGCCTGGGGGGTGTGC 0.612 7 1478 --- --- --- --- PRX 57716 broad.mit.edu 37 19 40900180 40900182 + In_Frame_Del DEL TCC TCC - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr19:40900180_40900182delTCC ENST00000324001.7 - 7 4347_4349 c.4077_4079delGGA c.(4075-4080)gaa>ga p.EE1359del PRX_ENST00000291825.7_3'UTR NM_181882.2 NP_870998.2 Q9BXM0 PRAX_HUMAN periaxin 1359 Poly-Glu. Missing. axon ensheathment cytoplasm|nucleus|plasma membrane protein binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9) 47 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) ACTGCcctcttcctcctcctcct 0.695 10 171 --- --- --- --- ERF 2077 broad.mit.edu 37 19 42753149 42753151 + In_Frame_Del DEL GAA GAA - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr19:42753149_42753151delGAA ENST00000222329.4 - 4 1270_1272 c.1113_1115delTTC c.(1111-1116)tcc>tc p.SS371del AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000440177.2_In_Frame_Del_p.SS296del NM_006494.2 NP_006485.2 P50548 ERF_HUMAN Ets2 repressor factor 371 Poly-Ser. cell proliferation|regulation of transcription from RNA polymerase II promoter nucleus ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1) 17 Prostate(69;0.00682) GAATGGGGAGGAAGAAGAAGAAG 0.680 7 661 --- --- --- --- LYPD3 27076 broad.mit.edu 37 19 43969653 43969655 + In_Frame_Del DEL AGC AGC - rs141441894 byFrequency TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr19:43969653_43969655delAGC ENST00000244333.3 - 1 157_159 c.69_71delGCT c.(67-72)ctt>ct p.LL23del NM_014400.2 NP_055215.2 O95274 LYPD3_HUMAN LY6/PLAUR domain containing 3 23 anchored to plasma membrane cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2) 11 Prostate(69;0.0153) ACCTCCGCGAAGCAGCAGCAGCA 0.675 13 957 --- --- --- --- ZNF428 126299 broad.mit.edu 37 19 44111875 44111877 + In_Frame_Del DEL TCC TCC - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr19:44111875_44111877delTCC ENST00000300811.3 - 3 905_907 c.459_461delGGA c.(457-462)gaa>ga p.EE157del SRRM5_ENST00000607544.1_Intron|SRRM5_ENST00000526798.1_Intron NM_182498.3 NP_872304.2 Q96B54 ZN428_HUMAN zinc finger protein 428 157 Glu-rich. intracellular zinc ion binding endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1) 5 Prostate(69;0.0153) ctcctcctcttcctcctcctcct 0.660 7 225 --- --- --- --- DHX34 9704 broad.mit.edu 37 19 47883158 47883160 + In_Frame_Del DEL GGA GGA - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr19:47883158_47883160delGGA ENST00000328771.4 + 14 3247_3249 c.2898_2900delGGA c.(2896-2901)ctg>ct p.LE966del NM_014681.5 NP_055496.2 Q14147 DHX34_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 34 966 intracellular ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132) AGCAGCAGCTGGAGGAGGAGGAG 0.660 13 356 --- --- --- --- NUCB1 4924 broad.mit.edu 37 19 49425109 49425111 + In_Frame_Del DEL AGC AGC - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr19:49425109_49425111delAGC ENST00000405315.4 + 12 1533_1535 c.1199_1201delAGC c.(1198-1203)aag>a p.KQ400del NUCB1_ENST00000407032.1_In_Frame_Del_p.KQ400del|NUCB1_ENST00000263273.5_In_Frame_Del_p.KQ400del|NUCB1_ENST00000485798.1_3'UTR NM_006184.5 NP_006175.2 Q02818 NUCB1_HUMAN nucleobindin 1 400 ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|membrane|microtubule cytoskeleton calcium ion binding|DNA binding cervix(1)|endometrium(4)|large_intestine(4)|lung(8) 17 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244) Gagcagcggaagcagcagcagca 0.640 8 349 --- --- --- --- HRC 3270 broad.mit.edu 37 19 49656769 49656771 + In_Frame_Del DEL CCT CCT - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr19:49656769_49656771delCCT ENST00000252825.4 - 1 1910_1912 c.1724_1726delAGG c.(1723-1728)ggg>g p.EG575del HRC_ENST00000595625.1_In_Frame_Del_p.EG575del NM_002152.2 NP_002143.1 P23327 SRCH_HUMAN histidine rich calcium binding protein 575 muscle contraction sarcoplasmic reticulum lumen calcium ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2) 34 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622) tcctccagcccctcctcctcctc 0.635 7 149 --- --- --- --- U2AF2 11338 broad.mit.edu 37 19 56171899 56171901 + In_Frame_Del DEL AGA AGA - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr19:56171899_56171901delAGA ENST00000450554.2 + 4 1207_1209 c.248_250delAGA c.(247-252)gag>g p.EK83del U2AF2_ENST00000308924.4_In_Frame_Del_p.EK83del NM_001012478.1|NM_007279.2 NP_001012496.1|NP_009210.1 P26368 U2AF2_HUMAN U2 small nuclear RNA auxiliary factor 2 83 mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription nucleoplasm|spliceosomal complex enzyme binding|nucleotide binding|RNA binding biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2) 21 Colorectal(82;0.00244)|Ovarian(87;0.133) BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.107) CCCCGCCACGAGAAGAAGAAGAA 0.645 8 352 --- --- --- --- ZNF211 0 broad.mit.edu 37 19 58153483 58153484 + Frame_Shift_Ins INS - - A TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr19:58153483_58153484insA ENST00000544273.1 + 5 1992_1993 c.1665_1666insA c.(1663-1668)ggaatcfs p.I556fs ZNF211_ENST00000254182.7_Frame_Shift_Ins_p.I535fs|ZNF211_ENST00000391703.3_Frame_Shift_Ins_p.I483fs|ZNF211_ENST00000347302.3_Frame_Shift_Ins_p.I544fs|ZNF211_ENST00000240731.4_Frame_Shift_Ins_p.I557fs|ZNF211_ENST00000299871.5_Frame_Shift_Ins_p.I609fs|ZNF211_ENST00000420680.1_Frame_Shift_Ins_p.I548fs|ZNF211_ENST00000541801.1_Frame_Shift_Ins_p.I535fs Q13398 ZN211_HUMAN zinc finger protein 211 544 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.K557E(1) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) GTCAATGTGGGAAATCCTTTGG 0.431 7 1033 --- --- --- --- CHGB 1114 broad.mit.edu 37 20 5903283 5903285 + In_Frame_Del DEL GAG GAG - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr20:5903283_5903285delGAG ENST00000378961.4 + 4 697_699 c.493_495delGAG c.(493-495)del p.E169del NM_001819.2 NP_001810.2 P05060 SCG1_HUMAN chromogranin B (secretogranin 1) 169 Poly-Glu. extracellular region hormone activity breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 47 GAGAGAGGATGAGGAGGAGGAGG 0.532 10 416 --- --- --- --- GZF1 64412 broad.mit.edu 37 20 23345921 23345923 + In_Frame_Del DEL GAG GAG - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr20:23345921_23345923delGAG ENST00000338121.5 + 2 978_980 c.901_903delGAG c.(901-903)del p.E306del GZF1_ENST00000544236.1_Intron|GZF1_ENST00000377051.2_In_Frame_Del_p.E306del|GZF1_ENST00000461789.1_3'UTR|GZF1_ENST00000542987.1_Intron Q9H116 GZF1_HUMAN GDNF-inducible zinc finger protein 1 306 transcription, DNA-dependent nucleolus|nucleoplasm sequence-specific DNA binding|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2) 24 Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135) ggaggaggaagaggaggaggagg 0.532 33 506 --- --- --- --- MAP1LC3A 84557 broad.mit.edu 37 20 33147601 33147604 + Frame_Shift_Del DEL GTGA GTGA - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr20:33147601_33147604delGTGA ENST00000360668.3 + 4 1026_1029 c.265_268delGTGA c.(265-270)gtfs p.VS91fs MAP1LC3A_ENST00000476428.1_3'UTR|MAP1LC3A_ENST00000374837.3_Frame_Shift_Del_p.VS95fs|MAP1LC3A_ENST00000397709.1_Frame_Shift_Del_p.VS91fs Q9H492 MLP3A_HUMAN microtubule-associated protein 1 light chain 3 alpha 91 autophagic vacuole assembly autophagic vacuole membrane|cytoplasmic vesicle|cytosol|endomembrane system|microtubule phosphatidylethanolamine binding|protein binding cervix(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(2) 5 GCACAGCATGGTGAGTGTGTCCAC 0.618 210 583 --- --- --- --- ACSS2 55902 broad.mit.edu 37 20 33508844 33508844 + Frame_Shift_Del DEL C C - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr20:33508844delC ENST00000360596.2 + 10 1390 c.1179delC c.(1177-1179)cgfs p.R393fs ACSS2_ENST00000253382.5_Frame_Shift_Del_p.R406fs|ACSS2_ENST00000336325.4_Frame_Shift_Del_p.R343fs|ACSS2_ENST00000476922.1_Intron NM_018677.3 NP_061147.1 Q9NR19 ACSA_HUMAN acyl-CoA synthetase short-chain family member 2 393 ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process cytosol|nucleus acetate-CoA ligase activity|ATP binding|protein binding cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9) 21 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) ACGTGAACCGCCTGTGGAGCA 0.502 13 1624 --- --- --- --- RTEL1 51750 broad.mit.edu 37 20 62292822 62292824 + In_Frame_Del DEL GCT GCT - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr20:62292822_62292824delGCT ENST00000318100.4 + 3 1101_1103 c.274_276delGCT c.(274-276)del p.A96del RTEL1_ENST00000488316.1_3'UTR|RTEL1-TNFRSF6B_ENST00000482936.1_In_Frame_Del_p.A96del|RTEL1_ENST00000370018.3_In_Frame_Del_p.A96del|RTEL1_ENST00000360203.5_In_Frame_Del_p.A96del|RTEL1_ENST00000508582.2_In_Frame_Del_p.A96del Q9NZ71 RTEL1_HUMAN regulator of telomere elongation helicase 1 96 Helicase ATP-binding. DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13) Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107) CTGGGGCAACGCTGCTGCTGCTG 0.645 9 300 --- --- --- --- PRDM15 63977 broad.mit.edu 37 21 43221415 43221417 + In_Frame_Del DEL CTG CTG - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr21:43221415_43221417delCTG ENST00000422911.1 - 25 3681_3683 c.3580_3582delCAG c.(3580-3582)del p.Q1194del PRDM15_ENST00000269844.3_In_Frame_Del_p.Q1503del|PRDM15_ENST00000398548.1_In_Frame_Del_p.Q1174del|PRDM15_ENST00000447207.2_In_Frame_Del_p.Q1137del|PRDM15_ENST00000538201.1_In_Frame_Del_p.Q1157del|PRDM15_ENST00000470586.1_5'UTR P57071 PRD15_HUMAN PR domain containing 15 1503 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1) 43 AGCTGTACATCTGCTGCTGCTGC 0.611 7 653 --- --- --- --- TRAPPC10 7109 broad.mit.edu 37 21 45472274 45472275 + Frame_Shift_Ins INS - - A rs149217788 byFrequency TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr21:45472274_45472275insA ENST00000291574.4 + 4 574_575 c.399_400insA c.(397-402)aaaaaafs p.KK133fs TRAPPC10_ENST00000380221.3_Frame_Shift_Ins_p.KK133fs NM_003274.4 NP_003265.3 P48553 TPC10_HUMAN trafficking protein particle complex 10 133 vesicle-mediated transport Golgi apparatus|integral to membrane binding|sodium ion transmembrane transporter activity p.K133N(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4) 41 ATGATGCCAAGAAAAAAAACAA 0.356 8 534 --- --- --- --- PTTG1IP 754 broad.mit.edu 37 21 46276194 46276196 + In_Frame_Del DEL GCA GCA - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr21:46276194_46276196delGCA ENST00000330938.3 - 4 581_583 c.361_363delTGC c.(361-363)del p.C121del PTTG1IP_ENST00000397887.3_Intron|PTTG1IP_ENST00000445724.2_Intron|PTTG1IP_ENST00000494690.1_5'UTR|PTTG1IP_ENST00000397886.3_In_Frame_Del_p.C100del NM_004339.3 NP_004330.1 P53801 PTTG_HUMAN pituitary tumor-transforming 1 interacting protein 121 Poly-Cys. protein import into nucleus cytoplasm|integral to membrane|nucleus ovary(1)|prostate(1) 2 Colorectal(79;0.0659) TCTTCCTCCTGCAGCAGCAGCAG 0.616 12 479 --- --- --- --- SLC19A1 6573 broad.mit.edu 37 21 46951916 46951918 + In_Frame_Del DEL CAG CAG - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr21:46951916_46951918delCAG ENST00000311124.4 - 3 486_488 c.334_336delCTG c.(334-336)del p.L112del SLC19A1_ENST00000485649.2_In_Frame_Del_p.L72del|SLC19A1_ENST00000380010.4_In_Frame_Del_p.L112del|SLC19A1_ENST00000567670.1_In_Frame_Del_p.L112del NM_194255.2 NP_919231.1 P41440 S19A1_HUMAN solute carrier family 19 (folate transporter), member 1 112 folic acid metabolic process integral to plasma membrane|membrane fraction folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1) 10 Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172) CCGAGTGGCCCAGCAGCAGCAGC 0.645 7 197 --- --- --- --- NF2 4771 broad.mit.edu 37 22 30050682 30050682 + Frame_Shift_Del DEL T T - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr22:30050682delT ENST00000338641.4 + 5 925 c.484delT c.(484-486)ttfs p.F162fs NF2_ENST00000397789.3_Frame_Shift_Del_p.F162fs|NF2_ENST00000361452.4_Frame_Shift_Del_p.F121fs|NF2_ENST00000361676.4_Frame_Shift_Del_p.F120fs|NF2_ENST00000347330.5_Intron|NF2_ENST00000353887.4_Frame_Shift_Del_p.F79fs|NF2_ENST00000361166.4_Frame_Shift_Del_p.F162fs|NF2_ENST00000413209.2_Intron|NF2_ENST00000403435.1_Frame_Shift_Del_p.F162fs|NF2_ENST00000403999.3_Frame_Shift_Del_p.F162fs|NF2_ENST00000334961.7_Frame_Shift_Del_p.F79fs NM_000268.3|NM_016418.5|NM_181832.2 NP_000259.1|NP_057502.2|NP_861970.1 P35240 MERL_HUMAN neurofibromin 2 (merlin) 162 FERM. actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane cytoskeletal protein binding|protein binding p.?(3) NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 776 CAAGCGGGGATTTTTGGCCCA 0.423 """D, Mis, N, F, S, O""" """meningioma, acoustic neuroma, renal """ """meningioma, acoustic neuroma""" Neurofibromatosis, type 2 7 1028 --- --- --- --- MYH9 4627 broad.mit.edu 37 22 36689419 36689421 + In_Frame_Del DEL CCT CCT - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr22:36689419_36689421delCCT ENST00000216181.5 - 30 4279_4281 c.4049_4051delAGG c.(4048-4053)gcc>g p.EA1350del NM_002473.4 NP_002464.1 P35579 MYH9_HUMAN myosin, heavy chain 9, non-muscle 1350 E -> EE (in Ref. 7). actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3) 86 TTGTGCTTGGCCTCCTCCTCCTC 0.650 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated 20 654 --- --- --- --- BAIAP2L2 80115 broad.mit.edu 37 22 38482353 38482394 + In_Frame_Del DEL TGCGGGAGCGGGACTGGCCATCCCAGTACTCCGAGGGTGCTA TGCGGGAGCGGGACTGGCCATCCCAGTACTCCGAGGGTGCTA - rs113792005 by1000genomes TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr22:38482353_38482394delTGCGGGAGCGGGACTGGCCATCCCAGTACTCCGAGGGTGCTA ENST00000381669.3 - 12 1466_1507 c.1322_1363delTAGCACCCTCGGAGTACTGGGATGGCCAGTCCCGCTCCCGCA c.(1321-1365)acc>a p.IAPSEYWDGQSRSRT441del NM_025045.4 NP_079321.3 Q6UXY1 BI2L2_HUMAN BAI1-associated protein 2-like 2 441 filopodium assembly|signal transduction cytoskeletal adaptor activity|SH3 domain binding large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1) 8 Melanoma(58;0.045) CGGCTTGGGGTGCGGGAGCGGGACTGGCCATCCCAGTACTCCGAGGGTGCTATGGAGTTGCC 0.674 13 113 --- --- --- --- SGSM3 27352 broad.mit.edu 37 22 40801679 40801681 + In_Frame_Del DEL GGA GGA - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr22:40801679_40801681delGGA ENST00000248929.9 + 8 834_836 c.645_647delGGA c.(643-648)ctg>ct p.LE215del SGSM3_ENST00000454798.2_In_Frame_Del_p.LE148del NM_015705.4 NP_056520.2 Q96HU1 SGSM3_HUMAN small G protein signaling modulator 3 215 Rab-GAP TBC. cell cycle arrest|Rap protein signal transduction cytoplasm Rab GTPase activator activity|Rab GTPase binding cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6) 19 TGCTGTTCCTGGAGGAGGAGGAC 0.621 7 1935 --- --- --- --- SREBF2 6721 broad.mit.edu 37 22 42262949 42262951 + In_Frame_Del DEL GCA GCA - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr22:42262949_42262951delGCA ENST00000361204.4 + 2 369_371 c.203_205delGCA c.(202-207)ggc>g p.GS68del NM_004599.2 NP_004590.2 Q12772 SRBP2_HUMAN sterol regulatory element binding transcription factor 2 68 Gly/Pro/Ser-rich. cholesterol metabolic process ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex protein C-terminus binding NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 ggcagcagtggcagcagcagcag 0.567 16 575 --- --- --- --- TCF20 6942 broad.mit.edu 37 22 42605990 42605992 + In_Frame_Del DEL CTG CTG - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr22:42605990_42605992delCTG ENST00000359486.3 - 1 5456_5458 c.5320_5322delCAG c.(5320-5322)del p.Q1774del TCF20_ENST00000404876.1_In_Frame_Del_p.Q75del|TCF20_ENST00000335626.4_In_Frame_Del_p.Q1774del NM_005650.1 NP_005641.1 Q9UGU0 TCF20_HUMAN transcription factor 20 (AR1) 1774 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5) 66 TCTGCTCCTTCTGCTGCTGCTGC 0.601 15 971 --- --- --- --- TCF20 6942 broad.mit.edu 37 22 42610573 42610575 + In_Frame_Del DEL AGG AGG - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr22:42610573_42610575delAGG ENST00000359486.3 - 1 873_875 c.737_739delCCT c.(736-741)ttc>t p.SF246del TCF20_ENST00000335626.4_In_Frame_Del_p.SF246del NM_005650.1 NP_005641.1 Q9UGU0 TCF20_HUMAN transcription factor 20 (AR1) 246 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5) 66 GGTGAAGGGAaggaggaggagga 0.507 37 881 --- --- --- --- TCF20 6942 broad.mit.edu 37 22 42610776 42610778 + In_Frame_Del DEL TGC TGC - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr22:42610776_42610778delTGC ENST00000359486.3 - 1 670_672 c.534_536delGCA c.(532-537)caa>ca p.QQ178del TCF20_ENST00000335626.4_In_Frame_Del_p.QQ178del NM_005650.1 NP_005641.1 Q9UGU0 TCF20_HUMAN transcription factor 20 (AR1) 178 Poly-Gln. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5) 66 CTGCTGGACTTGCTGCTGCTGCT 0.571 24 760 --- --- --- --- BIK 638 broad.mit.edu 37 22 43525245 43525247 + In_Frame_Del DEL GCT GCT - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr22:43525245_43525247delGCT ENST00000216115.2 + 5 480_482 c.417_419delGCT c.(415-420)gcg>gc p.AL139del NM_001197.4 NP_001188.1 Q13323 BIK_HUMAN BCL2-interacting killer (apoptosis-inducing) 139 Leucine-zipper (Potential). apoptosis|induction of apoptosis|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria endomembrane system|integral to membrane breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|urinary_tract(1) 5 Ovarian(80;0.0694) tgctgctggcgctgctgctgctg 0.724 13 376 --- --- --- --- TXLNG 55787 broad.mit.edu 37 X 16850849 16850850 + Frame_Shift_Del DEL AG AG - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chrX:16850849_16850850delAG ENST00000380122.5 + 6 1029_1030 c.968_969delAG c.(967-969)cfs p.Q323fs TXLNG_ENST00000398155.4_Frame_Shift_Del_p.Q191fs NM_018360.2 NP_060830.2 Q9NUQ3 TXLNG_HUMAN taxilin gamma 323 cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nuclear membrane breast(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 15 GAAAAACATCAGAGAGAGAGAG 0.386 7 275 --- --- --- --- CNKSR2 22866 broad.mit.edu 37 X 21627678 21627680 + In_Frame_Del DEL GAG GAG - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chrX:21627678_21627680delGAG ENST00000425654.2 + 19 3025_3027 c.2545_2547delGAG c.(2545-2547)del p.E856del CNKSR2_ENST00000543067.1_In_Frame_Del_p.E837del|CNKSR2_ENST00000279451.4_In_Frame_Del_p.E886del|CNKSR2_ENST00000379510.3_In_Frame_Del_p.E886del 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 8 218 --- --- --- --- BHLHB9 80823 broad.mit.edu 37 X 102004419 102004421 + In_Frame_Del DEL GAG GAG - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chrX:102004419_102004421delGAG ENST00000372735.1 + 4 1081_1083 c.496_498delGAG c.(496-498)del p.E171del BHLHB9_ENST00000361229.4_In_Frame_Del_p.E171del|BHLHB9_ENST00000457056.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000448867.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000447531.1_In_Frame_Del_p.E171del Q6PI77 BHLH9_HUMAN basic helix-loop-helix domain containing, class B, 9 171 Poly-Glu. cytoplasm|nucleus binding cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 GTCAGGGGCTGAGGAGGAGGAGG 0.488 20 768 --- --- --- --- PAK3 5063 broad.mit.edu 37 X 110406206 110406208 + In_Frame_Del DEL GAA GAA - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chrX:110406206_110406208delGAA ENST00000519681.1 + 10 1037_1039 c.595_597delGAA c.(595-597)del p.E203del PAK3_ENST00000425146.1_In_Frame_Del_p.E182del|PAK3_ENST00000262836.4_In_Frame_Del_p.E197del|PAK3_ENST00000417227.1_In_Frame_Del_p.E203del|PAK3_ENST00000372007.4_In_Frame_Del_p.E182del|PAK3_ENST00000360648.4_In_Frame_Del_p.E218del|PAK3_ENST00000446737.1_In_Frame_Del_p.E182del|PAK3_ENST00000372010.1_In_Frame_Del_p.E197del|PAK3_ENST00000518291.1_In_Frame_Del_p.E218del O75914 PAK3_HUMAN p21 protein (Cdc42/Rac)-activated kinase 3 197 Linker. multicellular organismal development ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 41 agatgaagaggaagaagaagaag 0.394 TSP Lung(19;0.15) 7 388 --- --- --- --- HTATSF1 27336 broad.mit.edu 37 X 135585048 135585050 + In_Frame_Del DEL AAG AAG - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chrX:135585048_135585050delAAG ENST00000535601.1 + 6 1104_1106 c.682_684delAAG c.(682-684)del p.K232del HTATSF1_ENST00000218364.4_In_Frame_Del_p.K232del NM_001163280.1 NP_001156752.1 O43719 HTSF1_HUMAN HIV-1 Tat specific factor 1 232 Poly-Lys. regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication nucleus nucleotide binding|protein binding|RNA binding NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1) 30 Acute lymphoblastic leukemia(192;0.000127) TGATGCCTCAAAGAAGAAGAAGA 0.335 7 325 --- --- --- --- SPANXN3 139067 broad.mit.edu 37 X 142605149 142605149 + Frame_Shift_Del DEL T T - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chrX:142605149delT ENST00000370503.2 - 1 154 c.71delA c.(70-72)atfs p.N24fs NM_001009609.2 NP_001009609.1 Q5MJ09 SPXN3_HUMAN SPANX family, member N3 24 endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1) 14 Acute lymphoblastic leukemia(192;6.56e-05) TACCTCATCATTTTTTTTGTT 0.453 12 534 --- --- --- --- CD99L2 83692 broad.mit.edu 37 X 149937526 149937528 + In_Frame_Del DEL GGC GGC - rs7877654 byFrequency TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chrX:149937526_149937528delGGC ENST00000370377.3 - 11 885_887 c.768_770delGCC c.(766-771)ccc>cc p.PP256del CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000355149.3_In_Frame_Del_p.PP184del|CD99L2_ENST00000437787.2_In_Frame_Del_p.PP183del|CD99L2_ENST00000466436.1_In_Frame_Del_p.PP207del NM_001242614.1|NM_031462.3 NP_001229543.1|NP_113650.2 Q8TCZ2 C99L2_HUMAN CD99 molecule-like 2 256 Poly-Pro. cell adhesion cell junction|integral to membrane endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) GGCTGGTTCGGGCGGCGGCGGCG 0.611 7 778 --- --- --- --- CD99L2 83692 broad.mit.edu 37 X 149984524 149984526 + In_Frame_Del DEL GTG GTG - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chrX:149984524_149984526delGTG ENST00000370377.3 - 3 273_275 c.156_158delCAC c.(154-159)aca>ac p.TT52del CD99L2_ENST00000466436.1_Intron|CD99L2_ENST00000437787.2_In_Frame_Del_p.TT52del|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000355149.3_Intron NM_001242614.1|NM_031462.3 NP_001229543.1|NP_113650.2 Q8TCZ2 C99L2_HUMAN CD99 molecule-like 2 52 Poly-Thr. cell adhesion cell junction|integral to membrane endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) CCTATTGGTTGTGGTGGTGGTGG 0.552 10 889 --- --- --- --- PASD1 139135 broad.mit.edu 37 X 150817142 150817144 + In_Frame_Del DEL GCT GCT - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chrX:150817142_150817144delGCT ENST00000370357.4 + 9 930_932 c.685_687delGCT c.(685-687)del p.A236del NM_173493.2 NP_775764.2 Q8IV76 PASD1_HUMAN PAS domain containing 1 236 Poly-Ala. nucleus signal transducer activity p.A229A(2) breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 Acute lymphoblastic leukemia(192;6.56e-05) CGTTGAACCCgctgctgctgctg 0.433 13 535 --- --- --- ---