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 FOXA1 3169 broad.mit.edu 37 14 38061592 38061592 + Missense_Mutation SNP C C T TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr14:38061592C>T ENST00000250448.2 - 2 458 c.397G>A c.(397-399)Gcc>Acc p.A133T FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Missense_Mutation_p.A100T NM_004496.3 NP_004487.2 P55317 FOXA1_HUMAN forkhead box A1 133 chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development transcription factor complex DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|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|transcription regulatory region DNA binding breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12) 19 Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213) Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239) GBM - Glioblastoma multiforme(112;0.0222) GGGTTCATGGCGGCCGCGTAG 0.736000 8 119 0 0 1 0 0 SECISBP2L 9728 broad.mit.edu 37 15 49288724 49288724 + Missense_Mutation SNP C C A TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr15:49288724C>A ENST00000559471.1 - 17 2726 c.2463G>T c.(2461-2463)atG>atT p.M821I SECISBP2L_ENST00000261847.3_Missense_Mutation_p.M776I NM_001193489.1 NP_001180418.1 Q93073 SBP2L_HUMAN SECIS binding protein 2-like 821 breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1) 46 TTGCTGCAACCATATCTTTAT 0.408000 42 954 1.30998e-17 1.45203e-17 1 1 0 QTRTD1 79691 broad.mit.edu 37 3 113804663 113804663 + Missense_Mutation SNP A A G TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr3:113804663A>G ENST00000281273.4 + 10 1417 c.1160A>G c.(1159-1161)tAc>tGc p.Y387C QTRTD1_ENST00000493014.1_Missense_Mutation_p.Y281C|QTRTD1_ENST00000485050.1_Missense_Mutation_p.Y399C|QTRTD1_ENST00000479882.1_Missense_Mutation_p.Y264C NM_024638.3 NP_078914.1 Q9H974 QTRD1_HUMAN queuine tRNA-ribosyltransferase domain containing 1 387 queuosine biosynthetic process mitochondrion metal ion binding|queuine tRNA-ribosyltransferase activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|skin(2) 10 TTTGAACACTACTTTGGGTTT 0.463000 30 565 0 0 1 0 0 CYP4F22 126410 broad.mit.edu 37 19 15662205 15662205 + Missense_Mutation SNP C C T TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr19:15662205C>T ENST00000269703.2 + 14 1718 c.1519C>T c.(1519-1521)Cgg>Tgg p.R507W CYP4F22_ENST00000601005.2_Missense_Mutation_p.R507W NM_173483.3 NP_775754.2 Q6NT55 CP4FN_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 22 507 endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1) 37 GCGCAAGGTGCGGCGGAAGCC 0.672000 5 75 0 0 1 0 0 SLC52A1 55065 broad.mit.edu 37 17 4937373 4937373 + Missense_Mutation SNP G G T TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr17:4937373G>T ENST00000512825.2 - 3 1822 c.411C>A c.(409-411)agC>agA p.S137R SLC52A1_ENST00000424747.1_Missense_Mutation_p.S137R|SLC52A1_ENST00000254853.5_Missense_Mutation_p.S137R Q9NWF4 RFT_HUMAN solute carrier family 52 (riboflavin transporter), member 1 137 integral to plasma membrane receptor activity|riboflavin transporter activity GTGGCAGGTGGCTCAGGAAGG 0.592000 47 519 6.87076e-12 7.52512e-12 1 1 0 TP53 7157 broad.mit.edu 37 17 7577046 7577046 + Nonsense_Mutation SNP C C A TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr17:7577046C>A ENST00000420246.2 - 8 1024 c.892G>T c.(892-894)Gag>Tag p.E298* TP53_ENST00000269305.4_Nonsense_Mutation_p.E298*|TP53_ENST00000359597.4_Nonsense_Mutation_p.E298*|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Nonsense_Mutation_p.E298*|TP53_ENST00000445888.2_Nonsense_Mutation_p.E298* NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 298 Interaction with HIPK1 (By similarity). E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.E298*(49)|p.0?(8)|p.?(2)|p.E298K(1)|p.L299fs*2(1)|p.L265_K305del41(1)|p.E298fs*53(1)|p.G293fs*1(1)|p.E298Q(1)|p.E298_P301delELPP(1)|p.H296_S303delHHELPPGS(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) GGGGGCAGCTCGTGGTGAGGC 0.567000 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) 36 340 6.97489e-18 7.82548e-18 1 1 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr1:16918653C>T ENST00000430580.2 - 6 853 c.e6+1 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418000 12 294 0 0 1 0 0 LCT 3938 broad.mit.edu 37 2 136564940 136564940 + Nonsense_Mutation SNP G G A TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr2:136564940G>A ENST00000264162.2 - 9 3941 c.3931C>T c.(3931-3933)Cga>Tga p.R1311* NM_002299.2 NP_002290.2 P09848 LPH_HUMAN lactase 1311 4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4) 124 BRCA - Breast invasive adenocarcinoma(221;0.169) ACATACCCTCGAAGGTCTATA 0.522000 36 444 0 0 1 0 0 RGS22 26166 broad.mit.edu 37 8 101076206 101076206 + Missense_Mutation SNP A A T TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr8:101076206A>T ENST00000360863.6 - 8 984 c.790T>A c.(790-792)Ttg>Atg p.L264M RGS22_ENST00000523287.1_Missense_Mutation_p.L83M|RGS22_ENST00000523437.1_Missense_Mutation_p.L252M NM_015668.3 NP_056483.3 Q8NE09 RGS22_HUMAN regulator of G-protein signaling 22 264 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity RGS22/SYCP1(2) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) TCAGAAATCAATTTGTTGGTT 0.343000 51 868 0 0 1 0 0 WHSC1L1 54904 broad.mit.edu 37 8 38187221 38187221 + Missense_Mutation SNP G G T TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr8:38187221G>T ENST00000317025.8 - 6 1773 c.1256C>A c.(1255-1257)aCc>aAc p.T419N WHSC1L1_ENST00000316985.3_Missense_Mutation_p.T419N|WHSC1L1_ENST00000527502.1_Missense_Mutation_p.T419N|WHSC1L1_ENST00000433384.2_Missense_Mutation_p.T419N NM_023034.1 NP_075447.1 Q9BZ95 NSD3_HUMAN Wolf-Hirschhorn syndrome candidate 1-like 1 419 cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome histone-lysine N-methyltransferase activity|zinc ion binding NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 24 Colorectal(12;0.000442)|Esophageal squamous(3;0.0725) all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065) Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511) TGGTCGTCGGGTTTTTTTAAC 0.433000 T NUP98 AML 19 425 8.34094e-07 8.72007e-07 1 1 0 TEPP 374739 broad.mit.edu 37 16 58010414 58010414 + Silent SNP G G A TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr16:58010414G>A ENST00000290871.5 + 1 76 c.39G>A c.(37-39)ctG>ctA p.L13L TEPP_ENST00000441824.2_Silent_p.L13L NM_199046.2 NP_950247.2 Q6URK8 TEPP_HUMAN testis, prostate and placenta expressed 13 extracellular region central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1) 8 TTATTCTGCTGCTGTCCATAA 0.517000 29 422 0 0 1 0 0 TMX4 56255 broad.mit.edu 37 20 7963022 7963022 + Missense_Mutation SNP C C T TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr20:7963022C>T ENST00000246024.2 - 8 1141 c.926G>A c.(925-927)cGg>cAg p.R309Q NM_021156.2 NP_066979.2 Q9H1E5 TMX4_HUMAN thioredoxin-related transmembrane protein 4 309 Glu-rich. cell redox homeostasis|electron transport chain|transport integral to membrane endometrium(3)|large_intestine(2)|lung(11)|skin(1) 17 TACTTCCTCCCGGGTCACACC 0.582000 21 455 0 0 1 0 0 BOD1L1 259282 broad.mit.edu 37 4 13615144 13615144 + Missense_Mutation SNP G G A TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr4:13615144G>A ENST00000040738.5 - 5 1451 c.1316C>T c.(1315-1317)aCg>aTg p.T439M NM_148894.2 NP_683692.2 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 1-like 1 439 Lys-rich. DNA binding ACCATCTGACGTAATCTCTCC 0.383000 37 427 0 0 1 0 0 TSHZ2 128553 broad.mit.edu 37 20 51872260 51872260 + Missense_Mutation SNP C C T TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr20:51872260C>T ENST00000371497.5 + 2 3150 c.2263C>T c.(2263-2265)Cgc>Tgc p.R755C TSHZ2_ENST00000329613.6_Missense_Mutation_p.R752C|TSHZ2_ENST00000603338.2_Missense_Mutation_p.R752C NM_001193421.1|NM_173485.5 NP_001180350.1|NP_775756.3 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 755 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) CGTGTCCAGGCGCTACCTGTT 0.512000 33 453 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9071237 9071237 + Silent SNP C C T TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr19:9071237C>T ENST00000397910.4 - 3 16412 c.16209G>A c.(16207-16209)ccG>ccA p.P5403P NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 5405 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.P5403P(2)|p.P1036P(1) NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGTAAGTGGCCGGTCTCTCAT 0.502000 84 1554 0 0 1 0 0 RIT1 6016 broad.mit.edu 37 1 155880296 155880296 + Splice_Site SNP G G T TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr1:155880296G>T ENST00000368323.3 - 3 312 c.106_splice c.e3-1 p.A36_splice RIT1_ENST00000539040.1_5'UTR|RIT1_ENST00000368322.3_Splice_Site_p.A53_splice|RIT1_ENST00000461050.1_5'UTR NM_006912.5 NP_008843.1 Q92963 RIT1_HUMAN Ras-like without CAAX 1 36 nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction intracellular|plasma membrane calmodulin binding|GTP binding|GTPase activity breast(1)|kidney(1)|large_intestine(3)|lung(12)|skin(1)|urinary_tract(1) 19 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;1.79e-05) GCATGGTCATGGCTTCAAAAG 0.393000 50 274 3.10996e-30 3.5323e-30 1 1 0 PKN3 29941 broad.mit.edu 37 9 131477728 131477728 + Silent SNP C C T TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr9:131477728C>T ENST00000291906.4 + 15 2190 c.1797C>T c.(1795-1797)gaC>gaT p.D599D PKN3_ENST00000485301.1_Intron NM_013355.3 NP_037487.2 Q6P5Z2 PKN3_HUMAN protein kinase N3 599 Protein kinase. signal transduction Golgi apparatus|nucleus|perinuclear region of cytoplasm ATP binding|protein binding|protein kinase C activity p.D599D(1) breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 24 TCAGCCGGGACGAGATAGAGA 0.612000 13 255 0 0 1 0 0 ZNF814 730051 broad.mit.edu 37 19 58385546 58385546 + Missense_Mutation SNP G G T TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr19:58385546G>T ENST00000435989.2 - 3 1446 c.1212C>A c.(1210-1212)gaC>gaA p.D404E ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000596604.1_Intron NM_001144989.1 NP_001138461.1 B7Z6K7 ZN814_HUMAN zinc finger protein 814 404 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.D404E(10) NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3) 25 AATGTTTTTTGTCAGTGTGAA 0.393000 15 60 6.31663e-08 6.75732e-08 1 1 0 MYOZ1 58529 broad.mit.edu 37 10 75391861 75391861 + Missense_Mutation SNP G G T TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr10:75391861G>T ENST00000359322.4 - 6 1091 c.727C>A c.(727-729)Ccc>Acc p.P243T NM_021245.3 NP_067068.1 Q9NP98 MYOZ1_HUMAN myozenin 1 243 myofibril assembly nucleus|pseudopodium FATZ binding central_nervous_system(1)|large_intestine(5)|lung(2)|ovary(2)|skin(2) 12 Prostate(51;0.0112) TCAAACTTGGGCATCTGGAAG 0.488000 13 335 1.49906e-05 1.53237e-05 1 1 0 DCT 1638 broad.mit.edu 37 13 95104903 95104903 + Missense_Mutation SNP C C T TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr13:95104903C>T ENST00000446125.1 - 7 1619 c.1193G>A c.(1192-1194)cGt>cAt p.R398H DCT_ENST00000377028.5_Intron NM_001129889.1 NP_001123361.1 P40126 TYRP2_HUMAN dopachrome tautomerase 394 epidermis development|melanin biosynthetic process from tyrosine cytosol|integral to membrane|melanosome membrane|microsome copper ion binding|dopachrome isomerase activity|oxidoreductase activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 50 all_neural(89;0.0684)|Medulloblastoma(90;0.163) all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988) COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472) gtaaagcaaacgattagaaat 0.274000 13 105 0 0 1 0 0 PRKG1 5592 broad.mit.edu 37 10 53564378 53564378 + Missense_Mutation SNP G G A TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr10:53564378G>A ENST00000373980.4 + 4 1043 c.626G>A c.(625-627)cGa>cAa p.R209Q PRKG1_ENST00000401604.2_Missense_Mutation_p.R194Q|PRKG1_ENST00000373985.1_Missense_Mutation_p.R182Q NM_006258.3 NP_006249.1 Q13976 KGP1_HUMAN protein kinase, cGMP-dependent, type I 194 actin cytoskeleton organization|platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 53 all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173) all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606) GCCATTGATCGACAATGTTTT 0.338000 31 267 0 0 1 0 0 NF1 4763 broad.mit.edu 37 17 29576089 29576089 + Silent SNP C C T TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr17:29576089C>T ENST00000358273.4 + 30 4445 c.4062C>T c.(4060-4062)tcC>tcT p.S1354S NF1_ENST00000356175.3_Silent_p.S1354S NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 1354 Poly-Ser.|Ras-GAP. actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(4) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) TCAGTTCCTCCTCAGAATTCC 0.398000 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 18 577 0 0 1 0 0 KIAA1199 57214 broad.mit.edu 37 15 81201475 81201475 + Missense_Mutation SNP C C T TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr15:81201475C>T ENST00000394685.3 + 14 2044 c.1625C>T c.(1624-1626)aCg>aTg p.T542M RP11-351M8.2_ENST00000560873.1_RNA|RP11-351M8.1_ENST00000560560.1_Intron|KIAA1199_ENST00000220244.3_Missense_Mutation_p.T542M|KIAA1199_ENST00000356249.5_Missense_Mutation_p.T542M Q8WUJ3 K1199_HUMAN KIAA1199 542 breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 TTGGAGGGCACGGAGCTGAAG 0.552000 16 288 0 0 1 0 0 GRIN2D 2906 broad.mit.edu 37 19 48919318 48919318 + Silent SNP C C T rs148340456 byFrequency TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr19:48919318C>T ENST00000263269.3 + 7 1729 c.1641C>T c.(1639-1641)tcC>tcT p.S547S NM_000836.2 NP_000827.2 O15399 NMDE4_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2D 547 cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|protein binding autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1) 37 all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161) L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173) AGGAGCGCTCCGAGATCGTGG 0.662000 26 423 0 0 1 0 0 PLA2G4E 123745 broad.mit.edu 37 15 42276761 42276761 + Silent SNP G G A TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr15:42276761G>A ENST00000399518.3 - 19 2745 c.2259C>T c.(2257-2259)taC>taT p.Y753Y CTD-2382E5.1_ENST00000499478.2_RNA|PLA2G4E_ENST00000413860.2_Silent_p.Y724Y NM_001206670.1 NP_001193599.1 Q3MJ16 PA24E_HUMAN phospholipase A2, group IVE 741 PLA2c. C -> Y (in Ref. 1; BAC87034). phospholipid catabolic process cytosol|lysosomal membrane metal ion binding|phospholipase A2 activity NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1) 16 all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273) OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06) CTGGCAGCTCGTATTTGGGGA 0.522000 11 241 0 0 1 0 0 EFCAB6 64800 broad.mit.edu 37 22 44083357 44083357 + Missense_Mutation SNP C C T TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr22:44083357C>T ENST00000262726.7 - 11 1389 c.1136G>A c.(1135-1137)aGa>aAa p.R379K EFCAB6_ENST00000358439.4_Intron|EFCAB6_ENST00000396231.2_Missense_Mutation_p.R227K NM_022785.3 NP_073622.2 Q5THR3 EFCB6_HUMAN EF-hand calcium binding domain 6 379 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 Ovarian(80;0.0247)|all_neural(38;0.025) ATACCTATTTCTTTTTGTCAG 0.308000 22 128 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176709307 176709307 + Missense_Mutation SNP G G A TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr1:176709307G>A ENST00000367662.3 + 14 5290 c.4126G>A c.(4126-4128)Gag>Aag p.E1376K NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 1376 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 CTCAGAGGACGAGGGGCAGAA 0.483000 29 277 0 0 1 0 0 MYOZ1 58529 broad.mit.edu 37 10 75391860 75391860 + Missense_Mutation SNP G G T TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr10:75391860G>T ENST00000359322.4 - 6 1092 c.728C>A c.(727-729)cCc>cAc p.P243H NM_021245.3 NP_067068.1 Q9NP98 MYOZ1_HUMAN myozenin 1 243 myofibril assembly nucleus|pseudopodium FATZ binding central_nervous_system(1)|large_intestine(5)|lung(2)|ovary(2)|skin(2) 12 Prostate(51;0.0112) GTCAAACTTGGGCATCTGGAA 0.493000 13 340 1.49906e-05 1.53237e-05 1 1 0 AMPD1 270 broad.mit.edu 37 1 115216697 115216697 + Missense_Mutation SNP C C T TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr1:115216697C>T ENST00000369538.3 - 13 1941 c.1894G>A c.(1894-1896)Gtg>Atg p.V632M AMPD1_ENST00000520113.2_Missense_Mutation_p.V636M|AMPD1_ENST00000353928.6_Missense_Mutation_p.V603M NM_001172626.1 NP_001166097.1 P23109 AMPD1_HUMAN adenosine monophosphate deaminase 1 603 purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 45 all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) Adenosine monophosphate(DB00131) TACTGTAGCACGGGACTCTGA 0.353000 9 163 0 0 1 0 0 ZAN 7455 broad.mit.edu 37 7 100377265 100377265 + RNA SNP A A T TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr7:100377265A>T ENST00000542585.1 + 0 6660 ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000348028.3_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) ACCCTCTGTGAGTTCGGAGGT 0.652000 7 43 0 0 1 0 0 OR10Q1 219960 broad.mit.edu 37 11 57995470 57995470 + Missense_Mutation SNP A A G TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr11:57995470A>G ENST00000316770.2 - 1 920 c.878T>C c.(877-879)tTg>tCg p.L293S NM_001004471.2 NP_001004471.1 Q8NGQ4 O10Q1_HUMAN olfactory receptor, family 10, subfamily Q, member 1 293 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2) 35 Breast(21;0.0589) GCTGTAAAGCAAAGGGTTGAG 0.547000 51 688 0 0 1 0 0 CDH20 28316 broad.mit.edu 37 18 59195270 59195270 + Missense_Mutation SNP G G A TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr18:59195270G>A ENST00000262717.4 + 7 1486 c.1088G>A c.(1087-1089)cGt>cAt p.R363H CDH20_ENST00000538374.1_Missense_Mutation_p.R363H|CDH20_ENST00000536675.2_Missense_Mutation_p.R363H Q9HBT6 CAD20_HUMAN cadherin 20, type 2 363 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3) 61 Colorectal(73;0.186) CTAGAGATGCGTTTTCTGAAC 0.473000 34 321 0 0 1 0 0 GGT1 2678 broad.mit.edu 37 22 25023843 25023843 + Silent SNP G G A TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr22:25023843G>A ENST00000400382.1 + 13 1988 c.1233G>A c.(1231-1233)ccG>ccA p.P411P GGT1_ENST00000400383.1_Silent_p.P411P|GGT1_ENST00000400380.1_Silent_p.P411P|GGT1_ENST00000466310.1_3'UTR|GGT1_ENST00000248923.4_Silent_p.P411P|GGT1_ENST00000401885.1_Silent_p.P67P|GGT1_ENST00000404920.1_Silent_p.P67P|GGT1_ENST00000403838.1_Silent_p.P67P|GGT1_ENST00000406383.2_Silent_p.P411P|GGT1_ENST00000404532.1_Silent_p.P67P|GGT1_ENST00000404223.1_Silent_p.P67P P19440 GGT1_HUMAN gamma-glutamyltransferase 1 411 glutathione biosynthetic process integral to membrane acyltransferase activity|gamma-glutamyltransferase activity|protein binding breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 40 Glutathione(DB00143) TCCGCTCCCCGGTCAGCGGGA 0.597000 15 312 0 0 1 0 0 NCAM2 4685 broad.mit.edu 37 21 22656721 22656721 + Splice_Site SNP G G A TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr21:22656721G>A ENST00000400546.1 + 3 586 c.e3+1 NCAM2_ENST00000535285.1_Splice_Site|NCAM2_ENST00000284894.7_Intron|NCAM2_ENST00000486367.1_Splice_Site NM_004540.3 NP_004531.2 O15394 NCAM2_HUMAN neural cell adhesion molecule 2 neuron cell-cell adhesion integral to membrane|plasma membrane p.?(1) breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 108 Lung NSC(9;0.195) all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174) GAAATTTACCGTAAGTAATGT 0.294000 6 121 0 0 1 0 0 BPTF 2186 broad.mit.edu 37 17 65850550 65850550 + Nonsense_Mutation SNP C C T TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr17:65850550C>T ENST00000321892.4 + 2 1169 c.1108C>T c.(1108-1110)Cag>Tag p.Q370* BPTF_ENST00000424123.3_Nonsense_Mutation_p.Q231*|BPTF_ENST00000306378.6_Nonsense_Mutation_p.Q370*|BPTF_ENST00000335221.5_Nonsense_Mutation_p.Q370* Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 370 brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) TCTAGTCGATCAGTTTCTTAC 0.418000 90 692 0 0 1 0 0 RP11-699L21.1 0 broad.mit.edu 37 3 193711182 193711182 + RNA SNP G G A rs6777021 by1000genomes TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr3:193711182G>A ENST00000397645.2 - 0 75 RP11-699L21.2_ENST00000426616.1_lincRNA NR_033944.1 GGCATAATATGTTATCTTCTA 0.438000 5 107 0 0 1 0 0 CCRN4L 25819 broad.mit.edu 37 4 139966043 139966043 + Silent SNP C C T TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr4:139966043C>T ENST00000280614.2 + 3 904 c.711C>T c.(709-711)gcC>gcT p.A237A ELF2_ENST00000515489.1_Intron NM_012118.2 NP_036250.2 Q9UK39 NOCT_HUMAN CCR4 carbon catabolite repression 4-like (S. cerevisiae) 237 rhythmic process|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding transcription factor activity kidney(2)|large_intestine(3)|lung(3)|ovary(1) 9 all_hematologic(180;0.162) ATGGTTGTGCCTTATTTTTTC 0.463000 29 386 0 0 1 0 0 H6PD 9563 broad.mit.edu 37 1 9324398 9324398 + Missense_Mutation SNP C C A TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr1:9324398C>A ENST00000377403.2 + 5 2148 c.1846C>A c.(1846-1848)Ctg>Atg p.L616M H6PD_ENST00000602477.1_Missense_Mutation_p.L627M NM_004285.3 NP_004276.2 O95479 G6PE_HUMAN hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) 616 6-phosphogluconolactonase. endoplasmic reticulum lumen 6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1) 23 all_lung(157;0.23) all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419) NADH(DB00157) CCACACGCACCTGTGGCTGGT 0.682000 7 153 0.000157383 0.000157383 1 1 0 LINC00303 0 broad.mit.edu 37 1 204006436 204006436 + RNA SNP G G A TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr1:204006436G>A ENST00000367207.3 - 0 584 AAACAGTCTCGGGGCGGGGGT 0.512000 8 64 0 0 1 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587526 43587526 + RNA SNP C C T TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr17:43587526C>T ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA gccgagatcgcgtcattgcac 0.488000 6 119 0 0 1 0 0 DRG2 1819 broad.mit.edu 37 17 18003681 18003681 + Silent SNP C C T TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr17:18003681C>T ENST00000225729.3 + 6 610 c.472C>T c.(472-474)Ctg>Ttg p.L158L DRG2_ENST00000395726.4_Silent_p.L158L|DRG2_ENST00000583355.1_Intron NM_001388.4 NP_001379.1 P55039 DRG2_HUMAN developmentally regulated GTP binding protein 2 158 G. signal transduction GTP binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 14 all_neural(463;0.228) TCCTAGGTCTCTGCTGGAGAA 0.577000 66 701 0 0 1 0 0 CADM3 57863 broad.mit.edu 37 1 159163257 159163257 + Missense_Mutation SNP C C T TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr1:159163257C>T ENST00000368125.4 + 4 584 c.427C>T c.(427-429)Cgg>Tgg p.R143W CADM3_ENST00000368124.4_Missense_Mutation_p.R177W NM_001127173.1 NP_001120645.1 Q8N126 CADM3_HUMAN cell adhesion molecule 3 143 Ig-like C2-type 1. adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion cell-cell junction|integral to membrane protein homodimerization activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 all_hematologic(112;0.0429) ATCTTCATTACGGGAAAAAGA 0.532000 84 345 0 0 1 0 0 CXCR4 0 broad.mit.edu 37 2 136872710 136872710 + Missense_Mutation SNP G G A TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr2:136872710G>A ENST00000409817.1 - 1 1103 c.800C>T c.(799-801)tCc>tTc p.S267F CXCR4_ENST00000466288.1_5'UTR|CXCR4_ENST00000241393.3_Missense_Mutation_p.S263F NM_001008540.1 NP_001008540.1 P61073 CXCR4_HUMAN chemokine (C-X-C motif) receptor 4 263 Involved in dimerization. activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane actin binding|C-X-C chemokine receptor activity|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 BRCA - Breast invasive adenocarcinoma(221;0.155) Framycetin(DB00452) GAGGATGAAGGAGTCGATGCT 0.517000 13 380 0 0 1 0 0 SLC28A1 9154 broad.mit.edu 37 15 85461805 85461805 + Silent SNP C C T TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr15:85461805C>T ENST00000394573.1 + 10 1048 c.846C>T c.(844-846)caC>caT p.H282H SLC28A1_ENST00000537624.1_Silent_p.H282H|SLC28A1_ENST00000538177.1_Silent_p.H282H|SLC28A1_ENST00000537216.1_Silent_p.H282H|SLC28A1_ENST00000537703.1_Silent_p.H204H|SLC28A1_ENST00000286749.3_Silent_p.H282H NM_004213.3 NP_004204.3 O00337 S28A1_HUMAN solute carrier family 28 (concentrative nucleoside transporter), member 1 282 nucleobase, nucleoside and nucleotide metabolic process integral to plasma membrane|membrane fraction nucleoside binding breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1) 41 BRCA - Breast invasive adenocarcinoma(143;0.0587) TTCTCTACCACGTGGGCCTCA 0.562000 41 752 0 0 1 0 0 ZNF716 441234 broad.mit.edu 37 7 57528604 57528604 + Missense_Mutation SNP A A T TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr7:57528604A>T ENST00000420713.1 + 4 549 c.437A>T c.(436-438)aAc>aTc p.N146I NM_001159279.1 NP_001152751.1 zinc finger protein 716 breast(1)|kidney(1)|lung(20)|ovary(2) 24 AATTATGTTAACCAATGTTTG 0.343000 8 148 0 0 1 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77353780 77353780 + Missense_Mutation SNP G G A rs147816593 TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr16:77353780G>A ENST00000282849.5 - 16 2916 c.2498C>T c.(2497-2499)gCg>gTg p.A833V NM_199355.2 NP_955387.1 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 18 833 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 GGGCCCTGGCGCGTACAGACG 0.542000 28 460 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90161902 90161902 + RNA SNP A A G rs6500471 by1000genomes TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr16:90161902A>G ENST00000567960.1 + 0 638 TUBB8P7_ENST00000564451.1_RNA p.K213R(8) ATATGTTCCAAGACCCTAAAA 0.537000 7 160 0 0 1 0 0 SYNPO2 171024 broad.mit.edu 37 4 119948009 119948009 + Missense_Mutation SNP C C T TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr4:119948009C>T ENST00000307142.4 + 3 681 c.485C>T c.(484-486)cCg>cTg p.P162L SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000429713.2_Missense_Mutation_p.P162L|SYNPO2_ENST00000434046.2_Missense_Mutation_p.P162L NM_133477.2 NP_597734.2 Q9UMS6 SYNP2_HUMAN synaptopodin 2 162 nucleus|Z disc 14-3-3 protein binding|actin binding|muscle alpha-actinin binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 GAAACAGGCCCGAGCTACCAA 0.547000 38 196 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29633900 29633900 + Missense_Mutation SNP A A G rs60081496 by1000genomes TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr20:29633900A>G ENST00000278882.3 + 9 919 c.539A>G c.(538-540)gAa>gGa p.E180G FRG1B_ENST00000358464.4_Missense_Mutation_p.E180G p.E180G(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TAAACAAGAGAACCAAATTGA 0.264000 13 219 0 0 1 0 0 RRN3P1 0 broad.mit.edu 37 16 21817457 21817457 + RNA SNP G G A rs150520281 by1000genomes TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr16:21817457G>A ENST00000546471.1 - 0 1601 CTTACATCCAGCTTGAGTAGT 0.259000 6 88 0 0 1 0 0 RRN3P2 0 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 14 193 0 0 1 0 0 RNF144A 9781 broad.mit.edu 37 2 7160800 7160800 + Silent SNP C C G TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr2:7160800C>G ENST00000320892.6 + 6 940 c.498C>G c.(496-498)ccC>ccG p.P166P RNF144A_ENST00000467276.1_3'UTR NM_014746.3 NP_055561.2 P50876 R144A_HUMAN ring finger protein 144A 166 Golgi apparatus|integral to membrane ligase activity|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1) 25 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) all_cancers(51;0.226) OV - Ovarian serous cystadenocarcinoma(76;0.195) CCTTCCTCCCCGGGGAGACCA 0.587000 59 489 0 0 1 0 0 IGSF9 57549 broad.mit.edu 37 1 159900160 159900160 + Missense_Mutation SNP C C T TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr1:159900160C>T ENST00000368094.1 - 15 2080 c.1883G>A c.(1882-1884)cGg>cAg p.R628Q IGSF9_ENST00000361509.3_Missense_Mutation_p.R612Q|IGSF9_ENST00000493195.1_5'UTR NM_001135050.1 NP_001128522.1 Q9P2J2 TUTLA_HUMAN immunoglobulin superfamily, member 9 628 Fibronectin type-III 2. cell junction|integral to membrane|synapse p.R612L(1) central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_hematologic(112;0.0597) Breast(1374;0.000126) BRCA - Breast invasive adenocarcinoma(70;0.111) CACCAGACCCCGCGGAGGGGA 0.652000 135 525 0 0 1 0 0 ST8SIA2 8128 broad.mit.edu 37 15 92981637 92981637 + Silent SNP A A G TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr15:92981637A>G ENST00000268164.3 + 4 582 c.345A>G c.(343-345)ggA>ggG p.G115G ST8SIA2_ENST00000539113.1_Silent_p.G94G NM_006011.3 NP_006002.1 Q92186 SIA8B_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 115 axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1) 20 Lung NSC(78;0.0893)|all_lung(78;0.125) BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203) TCCTAAAGGGAACCCTGAAGC 0.473000 130 918 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C A rs121913529 TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr12:25398284C>A ENST00000311936.3 - 2 226 c.35G>T c.(34-36)gGt>gTt p.G12V KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; 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.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1) 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) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 13 72 7.93312e-07 8.38905e-07 1 1 0 FOXQ1 94234 broad.mit.edu 37 6 1313384 1313384 + Missense_Mutation SNP C C T TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr6:1313384C>T ENST00000296839.2 + 1 710 c.445C>T c.(445-447)Ctc>Ttc p.L149F NM_033260.3 NP_150285.3 Q9C009 FOXQ1_HUMAN forkhead box Q1 149 DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter 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|ubiquitin conjugating enzyme binding lung(1)|urinary_tract(1) 2 Ovarian(93;0.0733) Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18) CAACGAGTACCTCATGGGCAA 0.657000 14 259 0 0 1 0 0 ZNF761 388561 broad.mit.edu 37 19 53950474 53950474 + RNA SNP C C T TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr19:53950474C>T ENST00000454407.1 + 0 406 Q86XN6 ZN761_HUMAN zinc finger protein 761 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 30 GBM - Glioblastoma multiforme(134;0.00786) ACTCTTGGTACGTGAGGAAGA 0.433000 19 340 0 0 1 0 0 CACNA2D2 9254 broad.mit.edu 37 3 50405102 50405102 + Silent SNP G G A TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr3:50405102G>A ENST00000435965.1 - 27 2462 c.2289C>T c.(2287-2289)gaC>gaT p.D763D XXcos-LUCA11.4_ENST00000607088.1_RNA|CACNA2D2_ENST00000266039.3_Silent_p.D756D|XXcos-LUCA11.4_ENST00000607121.1_RNA|CACNA2D2_ENST00000424201.2_Silent_p.D756D|CACNA2D2_ENST00000395083.1_Silent_p.D756D|CACNA2D2_ENST00000423994.2_Silent_p.D763D|CACNA2D2_ENST00000360963.3_Silent_p.D687D|XXcos-LUCA11.4_ENST00000606665.1_RNA|CACNA2D2_ENST00000479441.1_Silent_p.D763D|XXcos-LUCA11.4_ENST00000607362.1_RNA|XXcos-LUCA11.4_ENST00000606259.1_RNA|CACNA2D2_ENST00000429770.1_Silent_p.D756D|XXcos-LUCA11.5_ENST00000606589.1_Intron Q9NY47 CA2D2_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 2 763 energy reserve metabolic process|regulation of insulin secretion integral to membrane|plasma membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1) 31 BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01) Gabapentin(DB00996) TGATGCCACCGTCTGTGGCAG 0.642000 23 253 0 0 1 0 0 SPAM1 0 broad.mit.edu 37 7 123599604 123599604 + Silent SNP C C T rs146075363 TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr7:123599604C>T ENST00000340011.5 + 5 1468 c.1111C>T c.(1111-1113)Cta>Tta p.L371L SPAM1_ENST00000223028.7_Silent_p.L371L|SPAM1_ENST00000402183.2_Silent_p.L371L|SPAM1_ENST00000439500.1_Silent_p.L371L|SPAM1_ENST00000460182.1_Silent_p.L371L NM_003117.4 NP_003108.2 P38567 HYALP_HUMAN sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) 371 binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane anchored to membrane|plasma membrane hyalurononglucosaminidase activity breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 Hyaluronidase(DB00070) CAACGTCACACTAGCAGCCAA 0.378000 37 304 0 0 1 0 0 PRKAR1B 5575 broad.mit.edu 37 7 720280 720280 + Silent SNP C C T TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr7:720280C>T ENST00000406797.1 - 3 435 c.261G>A c.(259-261)ccG>ccA p.P87P PRKAR1B_ENST00000403562.1_Silent_p.P87P|PRKAR1B_ENST00000537384.1_Silent_p.P87P|PRKAR1B_ENST00000360274.4_Silent_p.P87P|PRKAR1B_ENST00000544935.1_Silent_p.P87P NM_001164761.1 NP_001158233.1 P31321 KAP1_HUMAN protein kinase, cAMP-dependent, regulatory, type I, beta 87 Dimerization and phosphorylation. activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport cAMP-dependent protein kinase complex|cytosol cAMP binding|cAMP-dependent protein kinase regulator activity endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1) 17 Ovarian(82;0.0779) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152) CCACAGGGTTCGGGGGGGTGG 0.622000 52 424 0 0 1 0 0 CSNK1E 1454 broad.mit.edu 37 22 38690455 38690455 + Missense_Mutation SNP G G A TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr22:38690455G>A ENST00000396832.1 - 8 1231 c.971C>T c.(970-972)gCg>gTg p.A324V CSNK1E_ENST00000359867.3_Missense_Mutation_p.A324V|CSNK1E_ENST00000403904.1_Missense_Mutation_p.A324V|CSNK1E_ENST00000400206.2_Missense_Mutation_p.A324V NM_152221.2 NP_689407.1 P49674 KC1E_HUMAN casein kinase 1, epsilon 324 DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|signal transduction cytosol|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 22 Melanoma(58;0.045) GGCTCGGGTCGCGGACCCCCG 0.726000 3 27 0 0 1 0 0 FAM104B 90736 broad.mit.edu 37 X 55172537 55172537 + Nonsense_Mutation SNP G G A rs1047054 by1000genomes TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chrX:55172537G>A ENST00000425133.2 - 3 369 c.331C>T c.(331-333)Cga>Tga p.R111* FAM104B_ENST00000489298.1_Nonsense_Mutation_p.R109*|FAM104B_ENST00000358460.4_Intron|FAM104B_ENST00000477847.2_Nonsense_Mutation_p.R107*|FAM104B_ENST00000332132.4_Intron|FAM104B_ENST00000472571.2_3'UTR NM_001166700.1|NM_001166701.1|NM_001166704.1 NP_001160172.1|NP_001160173.1|NP_001160176.1 Q5XKR9 F104B_HUMAN family with sequence similarity 104, member B 0 p.R111*(5) endometrium(3)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 8 GCTTGCCCTCGCTGCTGCAGG 0.438000 8 202 0 0 1 0 0 CDKN2A 1029 broad.mit.edu 37 9 21971120 21971120 + Nonsense_Mutation SNP G G A rs121913388 TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr9:21971120G>A ENST00000304494.5 - 2 508 c.238C>T c.(238-240)Cga>Tga p.R80* RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L NM_000077.4 NP_000068.1 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 80 R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding). 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.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(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) TGCACGGGTCGGGTGAGAGTG 0.726000 R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN) 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 14 91 0 0 1 0 0 GPR182 11318 broad.mit.edu 37 12 57389416 57389416 + Silent SNP C C T TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr12:57389416C>T ENST00000300098.1 + 2 642 c.423C>T c.(421-423)atC>atT p.I141I NM_007264.3 NP_009195.1 O15218 GP182_HUMAN G protein-coupled receptor 182 141 integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 15 ATAGCAGCATCTTCTTCCTGG 0.592000 35 318 0 0 1 0 0 ADAMTSL4 54507 broad.mit.edu 37 1 150529196 150529196 + Missense_Mutation SNP G G A TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr1:150529196G>A ENST00000271643.4 + 10 1912 c.1676G>A c.(1675-1677)cGt>cAt p.R559H ADAMTSL4_ENST00000369038.2_Missense_Mutation_p.R559H|ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.R582H|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.R559H NM_019032.4 NP_061905.2 Q6UY14 ATL4_HUMAN ADAMTS-like 4 559 apoptosis|positive regulation of apoptosis metalloendopeptidase activity|protease binding breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3) 32 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) CGATATAACCGTCCTCCCAGG 0.647000 50 1038 0 0 1 0 0 SMAD4 4089 broad.mit.edu 37 18 48591918 48591918 + Missense_Mutation SNP C C T rs80338963 TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr18:48591918C>T ENST00000342988.3 + 9 1619 c.1081C>T c.(1081-1083)Cgc>Tgc p.R361C SMAD4_ENST00000398417.2_Missense_Mutation_p.R361C|SMAD4_ENST00000588745.1_Missense_Mutation_p.R265C NM_005359.5 NP_005350.1 Q13485 SMAD4_HUMAN SMAD family member 4 361 MH2. R -> C (in JPS).|R -> H (in a colorectal cancer sample; somatic mutation). BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway activin responsive factor complex|centrosome|cytosol I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity p.0?(36)|p.R361C(3)|p.R361S(2)|p.?(2) NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1) 454 all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336) Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155) TGGAGGAGATCGCTTTTGTTT 0.413000 34 268 0 0 1 0 0 BBS9 27241 broad.mit.edu 37 7 33407475 33407475 + Splice_Site SNP G G A TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr7:33407475G>A ENST00000242067.6 + 17 2310 c.e17+1 BBS9_ENST00000350941.3_Splice_Site|BBS9_ENST00000355070.2_Splice_Site|BBS9_ENST00000396127.2_Splice_Site|BBS9_ENST00000354265.4_Splice_Site NM_198428.2 NP_940820.1 Q3SYG4 PTHB1_HUMAN Bardet-Biedl syndrome 9 fat cell differentiation|response to stimulus|visual perception BBSome|cilium membrane|microtubule organizing center|nucleus protein binding BBS9/PKD1L1(2) NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 50 GBM - Glioblastoma multiforme(11;0.0894) AAAACTTCTCGTAAGTAAAAC 0.373000 Bardet-Biedl syndrome 14 265 0 0 1 0 0 GOLGA6L7P 0 broad.mit.edu 37 15 29092257 29092257 + RNA SNP C C T rs75388271 by1000genomes TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr15:29092257C>T ENST00000569815.1 - 0 258 NR_047567.1 TCAGGGTTAGCGCCATGATTT 0.547000 9 165 0 0 1 0 0 ASH2L 9070 broad.mit.edu 37 8 37964684 37964684 + Splice_Site SNP C C T TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr8:37964684C>T ENST00000343823.6 + 3 710 c.401_splice c.e3+1 p.S134_splice ASH2L_ENST00000521652.1_Splice_Site_p.S40_splice|ASH2L_ENST00000250635.7_Splice_Site_p.S40_splice|ASH2L_ENST00000545394.1_Intron|ASH2L_ENST00000428278.2_Splice_Site_p.S40_splice NM_004674.4 NP_004665.2 Q9UBL3 ASH2L_HUMAN ash2 (absent, small, or homeotic)-like (Drosophila) 134 hemopoiesis|histone H3-K4 methylation|positive regulation of cell proliferation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription from RNA polymerase II promoter Set1C/COMPASS complex metal ion binding|protein binding|transcription regulatory region DNA binding NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1) 19 Colorectal(12;0.000501) Lung NSC(58;0.0295)|all_lung(54;0.0413) ATAGATACCTCGTGAGTACTT 0.408000 33 453 0 0 1 0 0 TRPS1 7227 broad.mit.edu 37 8 116616325 116616325 + Missense_Mutation SNP C C T TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr8:116616325C>T ENST00000395715.3 - 4 2448 c.1871G>A c.(1870-1872)cGa>cAa p.R624Q TRPS1_ENST00000220888.5_Missense_Mutation_p.R611Q|TRPS1_ENST00000520276.1_Missense_Mutation_p.R615Q|TRPS1_ENST00000519674.1_Missense_Mutation_p.R611Q|TRPS1_ENST00000519076.1_Intron NM_014112.2 NP_054831.2 Q9UHF7 TRPS1_HUMAN trichorhinophalangeal syndrome I 611 negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2) 111 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) ATGTTTGACTCGCGAGCTTCC 0.478000 Langer-Giedion syndrome 56 305 0 0 1 0 0 KRTAP4-7 100132476 broad.mit.edu 37 17 39240504 39240504 + Missense_Mutation SNP A A G rs11655310 by1000genomes TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr17:39240504A>G ENST00000391417.4 + 1 46 c.46A>G c.(46-48)Agc>Ggc p.S16G NM_033061.3 NP_149050.3 keratin associated protein 4-7 p.S16G(2) NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1) 9 CCAGGGCTGCAGCCAAGACCT 0.607000 10 216 0 0 1 0 0 HSP90AA1 3320 broad.mit.edu 37 14 102551163 102551163 + Missense_Mutation SNP T T A rs55793809 byFrequency TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr14:102551163T>A ENST00000334701.7 - 6 1483 c.1202A>T c.(1201-1203)aAg>aTg p.K401M HSP90AA1_ENST00000441629.2_Missense_Mutation_p.K100M|HSP90AA1_ENST00000216281.8_Missense_Mutation_p.K279M NM_001017963.2 NP_001017963.2 P07900 HS90A_HUMAN heat shock protein 90kDa alpha (cytosolic), class A member 1 279 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) ttccttaatcttcttcttctt 0.393000 31 174 0 0 1 0 0 UBXN11 91544 broad.mit.edu 37 1 26608843 26608844 + In_Frame_Ins INS - - GGGACA rs6667693 by1000genomes TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr1:26608843_26608844insGGGACA ENST00000314675.7 - 11 1228_1229 c.1149_1150insTGTCCC c.(1147-1152)ccgtcc>ccTGTCCCgtcc p.382_383insPV UBXN11_ENST00000357089.4_In_Frame_Ins_p.469_470insPV|UBXN11_ENST00000374221.3_In_Frame_Ins_p.502_503insPV|UBXN11_ENST00000374217.2_In_Frame_Ins_p.469_470insPV|UBXN11_ENST00000374223.1_In_Frame_Ins_p.259_260insPV|UBXN11_ENST00000374222.1_In_Frame_Ins_p.502_503insPV NM_001077262.1 NP_001070730.1 Q5T124 UBX11_HUMAN UBX domain protein 11 502 cytoplasm|cytoskeleton p.P503_G504insCP(1)|p.G490_P515delGPGPSPGPGPGPSPGPGPGPSPCPGP(1) endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3) 23 ggaccgggaccgggactggggc 0.733 8 179 --- --- --- --- RP11-782C8.2 0 broad.mit.edu 37 1 143210446 143210446 + RNA DEL T T - TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr1:143210446delT ENST00000412204.2 - 0 624 RP11-782C8.1_ENST00000438000.1_lincRNA GTCCATATACTAAAAAGGTTA 0.284 8 102 --- --- --- --- HFE2 148738 broad.mit.edu 37 1 145415369 145415371 + In_Frame_Del DEL GAG GAG - TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr1:145415369_145415371delGAG ENST00000336751.5 + 3 426_428 c.188_190delGAG c.(187-192)cga>c p.RG63del HFE2_ENST00000357836.5_5'UTR|HFE2_ENST00000497365.1_Intron|HFE2_ENST00000475797.1_Intron 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 10 388 --- --- --- --- BCL9 607 broad.mit.edu 37 1 147091501 147091501 + Frame_Shift_Del DEL C C - TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr1:147091501delC ENST00000234739.3 + 8 2280 c.1540delC c.(1540-1542)ccfs p.P517fs NM_004326.2 NP_004317.2 O00512 BCL9_HUMAN B-cell CLL/lymphoma 9 517 Poly-Pro.|Pro-rich. Wnt receptor signaling pathway nucleus protein binding breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 7 all_hematologic(923;0.115) GGTCCGAGGACCCCCCCCTCC 0.582 T """IGH@, IGL@""" B-ALL 16 861 --- --- --- --- ISG20L2 81875 broad.mit.edu 37 1 156694023 156694023 + Frame_Shift_Del DEL G G - TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr1:156694023delG ENST00000313146.6 - 2 1647 c.865delC c.(865-867)tcfs p.L289fs ISG20L2_ENST00000472824.1_5'UTR|ISG20L2_ENST00000368219.1_Frame_Shift_Del_p.L289fs NM_030980.1 NP_112242.1 Q9H9L3 I20L2_HUMAN interferon stimulated exonuclease gene 20kDa-like 2 289 Exonuclease. ribosome biogenesis nucleolus exonuclease activity|nucleic acid binding|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1) 16 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TTCCGGTTGAGGGGGGGGATA 0.557 8 567 --- --- --- --- PCP4L1 654790 broad.mit.edu 37 1 161254154 161254156 + In_Frame_Del DEL GGA GGA - TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr1:161254154_161254156delGGA ENST00000504449.1 + 3 338_340 c.90_92delGGA c.(88-93)gcg>gc p.AE30del NM_001102566.1 NP_001096036.1 A6NKN8 PC4L1_HUMAN Purkinje cell protein 4 like 1 30 p.A30A(1)|p.E35delE(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(1) 4 all_cancers(52;4.16e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) TCAAGAAGGCGGAGGAGGAGGAG 0.488 9 467 --- --- --- --- POU2F1 5451 broad.mit.edu 37 1 167385016 167385018 + In_Frame_Del DEL CCA CCA - TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr1:167385016_167385018delCCA ENST00000367862.5 + 16 2472_2474 c.2237_2239delCCA c.(2236-2241)tcc>t p.ST746del POU2F1_ENST00000420254.3_Intron|POU2F1_ENST00000541643.3_In_Frame_Del_p.ST734del|POU2F1_ENST00000429375.2_In_Frame_Del_p.ST694del|POU2F1_ENST00000367866.2_In_Frame_Del_p.ST757del|POU2F1_ENST00000367865.1_3'UTR NM_001198783.1 NP_001185712.1 P14859 PO2F1_HUMAN POU class 2 homeobox 1 734 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 30 GGGGCTGCGTCCACCACCACCAC 0.601 9 1205 --- --- --- --- APOBEC4 403314 broad.mit.edu 37 1 183616826 183616828 + In_Frame_Del DEL TTC TTC - rs141411396 TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr1:183616826_183616828delTTC ENST00000308641.4 - 2 1360_1362 c.1089_1091delGAA c.(1087-1092)aaa>aa p.KK363del APOBEC4_ENST00000481562.1_5'UTR|RGL1_ENST00000536277.1_Intron|RGL1_ENST00000304685.3_Intron|RGL1_ENST00000367531.1_Intron NM_203454.2 NP_982279.1 Q8WW27 ABEC4_HUMAN apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative) 363 mRNA processing hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1) 21 TTTCTTCCCTTTCTTCTTCTTCT 0.419 7 762 --- --- --- --- USP34 9736 broad.mit.edu 37 2 61575023 61575025 + In_Frame_Del DEL TGG TGG - TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr2:61575023_61575025delTGG ENST00000398571.2 - 15 2341_2343 c.2265_2267delCCA c.(2263-2268)cat>ca p.HH759del NM_014709.3 NP_055524.3 Q70CQ2 UBP34_HUMAN ubiquitin specific peptidase 34 759 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2) 138 Epithelial(17;0.229) gtggtggtgatggtggtggtggt 0.389 8 338 --- --- --- --- OTX1 5013 broad.mit.edu 37 2 63283259 63283261 + In_Frame_Del DEL CCA CCA - TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr2:63283259_63283261delCCA ENST00000282549.2 + 5 1149_1151 c.873_875delCCA c.(871-876)ggc>gg p.GH291del OTX1_ENST00000366671.3_In_Frame_Del_p.GH291del NM_014562.3 NP_055377.1 P32242 OTX1_HUMAN orthodenticle homeobox 1 291 His-rich. nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 20 Lung NSC(7;0.121)|all_lung(7;0.211) AGTCCTCAGGccaccaccaccac 0.640 11 479 --- --- --- --- IGKV1D-8 0 broad.mit.edu 37 2 90259860 90259861 + RNA INS - - C TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr2:90259860_90259861insC ENST00000471857.1 + 0 236 AATTTACTCAGCCAATGTGCTC 0.480 9 824 --- --- --- --- MAP4K4 9448 broad.mit.edu 37 2 102314997 102314998 + Frame_Shift_Ins INS - - A TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr2:102314997_102314998insA ENST00000413150.2 + 2 175_176 c.120_121insA c.(118-123)taagggfs p.G41fs MAP4K4_ENST00000425019.1_Frame_Shift_Ins_p.G41fs|MAP4K4_ENST00000347699.4_Frame_Shift_Ins_p.G41fs|MAP4K4_ENST00000456652.1_Frame_Shift_Ins_p.G41fs|MAP4K4_ENST00000302217.5_Frame_Shift_Ins_p.G41fs|MAP4K4_ENST00000324219.4_Frame_Shift_Ins_p.G41fs|MAP4K4_ENST00000350198.4_Frame_Shift_Ins_p.G41fs NM_001242560.1|NM_004834.4 NP_001229489.1|NP_004825.3 O95819 M4K4_HUMAN mitogen-activated protein kinase kinase kinase kinase 4 41 Protein kinase. intracellular protein kinase cascade|regulation of JNK cascade|response to stress cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 GACAAGTCTATAAGGTCGGTGT 0.515 75 1145 --- --- --- --- SULT1C3 442038 broad.mit.edu 37 2 108863685 108863685 + Frame_Shift_Del DEL A A - TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr2:108863685delA ENST00000376700.1 + 1 35 c.35delA c.(34-36)gafs p.E12fs SULT1C3_ENST00000329106.2_Frame_Shift_Del_p.E12fs Q6IMI6 ST1C3_HUMAN sulfotransferase family, cytosolic, 1C, member 3 12 cytoplasm alcohol sulfotransferase activity breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4) 16 CCCACGATGGAAAAAAAGCCA 0.353 8 489 --- --- --- --- ACVR2A 92 broad.mit.edu 37 2 148657040 148657041 + Frame_Shift_Ins INS - - A TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr2:148657040_148657041insA ENST00000241416.7 + 3 913_914 c.277_278insA c.(277-279)aaafs p.K93fs ACVR2A_ENST00000404590.1_Frame_Shift_Ins_p.K93fs|ACVR2A_ENST00000535787.1_5'UTR|AC009480.3_ENST00000402410.2_RNA NM_001278579.1|NM_001278580.1|NM_001616.3 NP_001265508.1|NP_001265509.1|NP_001607.1 P27037 AVR2A_HUMAN activin A receptor, type IIA 93 activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8) 45 BRCA - Breast invasive adenocarcinoma(221;0.0969) TGATTGTGTAGAAAAAAAAGAC 0.302 7 436 --- --- --- --- TNS1 7145 broad.mit.edu 37 2 218712887 218712889 + In_Frame_Del DEL GCT GCT - TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr2:218712887_218712889delGCT ENST00000171887.4 - 17 2428_2430 c.1976_1978delAGC c.(1975-1980)cct>c p.QP659del TNS1_ENST00000430930.1_In_Frame_Del_p.QP659del|TNS1_ENST00000419504.1_In_Frame_Del_p.QP659del NM_022648.4 NP_072174.3 Q9HBL0 TENS1_HUMAN tensin 1 659 Gln-rich. cytoplasm|cytoskeleton|focal adhesion actin binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 Renal(207;0.0483)|Lung NSC(271;0.213) Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013) GGTGGGCGAGgctgctgctgctg 0.660 9 174 --- --- --- --- GAL3ST2 64090 broad.mit.edu 37 2 242738494 242738496 + In_Frame_Del DEL TCC TCC - TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr2:242738494_242738496delTCC ENST00000192314.6 + 2 175_177 c.44_46delTCC c.(43-48)atc>a p.IL15del NM_022134.2 NP_071417.2 Q9H3Q3 G3ST2_HUMAN galactose-3-O-sulfotransferase 2 15 biosynthetic process Golgi cisterna membrane|integral to membrane galactosylceramide sulfotransferase activity p.L16I(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1) 14 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833) TTCCGGGTCATCCTCCTCCTCCT 0.631 8 421 --- --- --- --- QRICH1 54870 broad.mit.edu 37 3 49094314 49094316 + In_Frame_Del DEL TGC TGC - TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr3:49094314_49094316delTGC ENST00000395443.2 - 3 1789_1791 c.1317_1319delGCA c.(1315-1320)caa>ca p.QQ439del QRICH1_ENST00000357496.2_In_Frame_Del_p.QQ439del|QRICH1_ENST00000424300.1_In_Frame_Del_p.QQ439del|QRICH1_ENST00000479449.1_5'UTR NM_198880.1 NP_942581.1 Q2TAL8 QRIC1_HUMAN glutamine-rich 1 439 Gln-rich. breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1) 25 BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) AACTTGGAgttgctgctgctgct 0.562 7 476 --- --- --- --- MST1 4485 broad.mit.edu 37 3 49723112 49723112 + Frame_Shift_Del DEL T T - rs11288337 TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr3:49723112delT ENST00000449682.2 - 11 1665 c.1304delA c.(1303-1305)acfs p.N435fs MST1_ENST00000383728.3_3'UTR NM_020998.3 NP_066278.3 P26927 HGFL_HUMAN macrophage stimulating 1 (hepatocyte growth factor-like) 421 Kringle 4. proteolysis extracellular region serine-type endopeptidase activity NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) CCCATCTGGGTTCCGGCAGAA 0.587 8 337 --- --- --- --- ERC2 26059 broad.mit.edu 37 3 55733470 55733472 + In_Frame_Del DEL TGG TGG - TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc 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 10 1159 --- --- --- --- RP11-325B23.2 0 broad.mit.edu 37 3 98031434 98031434 + RNA DEL A A - TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr3:98031434delA ENST00000508616.1 + 0 149 OR5H8P_ENST00000394191.2_RNA TTACAATCTTAAAAAAAAAAG 0.333 8 132 --- --- --- --- TRMT10C 54931 broad.mit.edu 37 3 101284009 101284009 + Frame_Shift_Del DEL A A - TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr3:101284009delA ENST00000309922.6 + 2 538 c.384delA c.(382-384)gcfs p.A128fs NM_017819.2 NP_060289.2 tRNA methyltransferase 10 homolog C (S. cerevisiae) CTAACACAGCaaaaaaaaaat 0.343 8 159 --- --- --- --- DBR1 51163 broad.mit.edu 37 3 137880741 137880743 + In_Frame_Del DEL TCG TCG - rs2622736 byFrequency TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr3:137880741_137880743delTCG ENST00000260803.4 - 8 1776_1778 c.1623_1625delCGA c.(1621-1626)gat>ga p.DD541del DBR1_ENST00000505015.2_In_Frame_Del_p.DD307del NM_016216.3 NP_057300.2 Q9UK59 DBR1_HUMAN debranching RNA lariats 1 541 nucleus metal ion binding|RNA lariat debranching enzyme activity NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1) 15 TTAAGCTGCATCGTCATCATCAT 0.394 9 468 --- --- --- --- DBR1 51163 broad.mit.edu 37 3 137880744 137880746 + In_Frame_Del DEL TCA TCA - TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr3:137880744_137880746delTCA ENST00000260803.4 - 8 1773_1775 c.1620_1622delTGA c.(1618-1623)gac>ga p.DD540del DBR1_ENST00000505015.2_In_Frame_Del_p.DD306del NM_016216.3 NP_057300.2 Q9UK59 DBR1_HUMAN debranching RNA lariats 1 540 nucleus metal ion binding|RNA lariat debranching enzyme activity NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1) 15 AGCTGCATCGTCATCATCATCAT 0.399 8 497 --- --- --- --- MED12L 116931 broad.mit.edu 37 3 151148114 151148116 + In_Frame_Del DEL CAG CAG - TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc 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 10 500 --- --- --- --- EIF4G1 1981 broad.mit.edu 37 3 184039744 184039746 + In_Frame_Del DEL GAA GAA - TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr3:184039744_184039746delGAA ENST00000342981.4 + 9 1786_1788 c.1372_1374delGAA c.(1372-1374)del p.E465del EIF4G1_ENST00000319274.6_In_Frame_Del_p.E465del|EIF4G1_ENST00000414031.1_In_Frame_Del_p.E425del|EIF4G1_ENST00000352767.3_In_Frame_Del_p.E472del|EIF4G1_ENST00000392537.2_In_Frame_Del_p.E378del|EIF4G1_ENST00000434061.2_In_Frame_Del_p.E269del|EIF4G1_ENST00000427845.1_In_Frame_Del_p.E378del|EIF4G1_ENST00000441154.1_In_Frame_Del_p.E301del|EIF4G1_ENST00000411531.1_In_Frame_Del_p.E425del|EIF4G1_ENST00000346169.2_In_Frame_Del_p.E465del|EIF4G1_ENST00000424196.1_In_Frame_Del_p.E472del|EIF4G1_ENST00000435046.2_In_Frame_Del_p.E269del|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000382330.3_In_Frame_Del_p.E472del|EIF4G1_ENST00000350481.5_In_Frame_Del_p.E301del NM_182917.4 NP_886553.3 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 gamma, 1 465 Poly-Glu. insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 75 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GGAGGAAATGgaagaagaagaag 0.562 12 576 --- --- --- --- LIMCH1 22998 broad.mit.edu 37 4 41648508 41648509 + Frame_Shift_Del DEL GA GA - TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr4:41648508_41648509delGA ENST00000313860.7 + 12 1317_1318 c.1263_1264delGA c.(1261-1266)cggafs p.RR421fs LIMCH1_ENST00000509277.1_Frame_Shift_Del_p.RR255fs|LIMCH1_ENST00000396595.3_Frame_Shift_Del_p.RR267fs|LIMCH1_ENST00000512820.1_Frame_Shift_Del_p.RR409fs|LIMCH1_ENST00000503057.1_Frame_Shift_Del_p.RR806fs|LIMCH1_ENST00000514096.1_Frame_Shift_Del_p.RR262fs|LIMCH1_ENST00000513024.1_Frame_Shift_Del_p.RR250fs|LIMCH1_ENST00000381753.4_Frame_Shift_Del_p.RR255fs|LIMCH1_ENST00000512632.1_Frame_Shift_Del_p.RR421fs|LIMCH1_ENST00000508501.1_Frame_Shift_Del_p.RR421fs|LIMCH1_ENST00000512946.1_Frame_Shift_Del_p.RR421fs|LIMCH1_ENST00000511496.1_Frame_Shift_Del_p.RR262fs 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 8 531 --- --- --- --- BMP2K 55589 broad.mit.edu 37 4 79792161 79792169 + In_Frame_Del DEL CAGCACCAC CAGCACCAC - rs2114202 byFrequency TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr4:79792161_79792169delCAGCACCAC ENST00000335016.5 + 11 1622_1630 c.1456_1464delCAGCACCAC c.(1456-1464)del p.QHH486del BMP2K_ENST00000502871.1_In_Frame_Del_p.QHH486del NM_198892.1 NP_942595.1 Q9NSY1 BMP2K_HUMAN BMP2 inducible kinase 486 Gln/His-rich. Q -> H (in dbSNP:rs2114202). Missing (in Ref. 2; CAB70863). nucleus ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1) 13 gcagcagcagcagcaccaccaccaccacc 0.488 10 250 --- --- --- --- PRDM8 56978 broad.mit.edu 37 4 81123250 81123252 + In_Frame_Del DEL CAG CAG - TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr4:81123250_81123252delCAG ENST00000339711.4 + 10 1865_1867 c.634_636delCAG c.(634-636)del p.Q217del PRDM8_ENST00000504452.1_In_Frame_Del_p.Q217del|PRDM8_ENST00000415738.2_In_Frame_Del_p.Q217del NM_020226.3 NP_064611.3 Q9NQV8 PRDM8_HUMAN PR domain containing 8 217 Gly-rich.|Poly-Gln. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2) 10 tggcaaagaccagcagcagcagc 0.655 OREG0016246 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 361 --- --- --- --- PKD2 5311 broad.mit.edu 37 4 88986559 88986559 + Frame_Shift_Del DEL A A - TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr4:88986559delA ENST00000237596.2 + 11 2218 c.2152delA c.(2152-2154)aafs p.K719fs PKD2_ENST00000508588.1_Frame_Shift_Del_p.K137fs|PKD2_ENST00000502363.1_Frame_Shift_Del_p.K137fs|PKD2_ENST00000511337.1_3'UTR NM_000297.3 NP_000288.1 Q13563 PKD2_HUMAN polycystic kidney disease 2 (autosomal dominant) 719 EF-hand domain. basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1) 36 Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221) OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237) ACTAAAACTGAAAAAAAATAC 0.383 12 598 --- --- --- --- PCDH10 57575 broad.mit.edu 37 4 134073569 134073571 + In_Frame_Del DEL CTG CTG - TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr4:134073569_134073571delCTG ENST00000264360.4 + 1 3100_3102 c.2274_2276delCTG c.(2272-2277)ctc>ct p.LC758del NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 758 Cys-rich. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) ATTGCTGCCTCTGCTGCTGCTGC 0.581 8 314 --- --- --- --- SORBS2 8470 broad.mit.edu 37 4 186544620 186544622 + In_Frame_Del DEL GGT GGT - TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr4:186544620_186544622delGGT ENST00000431808.1 - 14 2512_2514 c.1949_1951delACC c.(1948-1953)cgc>c p.HR650del 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_ENST00000393528.3_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000355634.5_In_Frame_Del_p.HR750del|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 8 392 --- --- --- --- FAT1 2195 broad.mit.edu 37 4 187557935 187557935 + Frame_Shift_Del DEL T T - TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr4:187557935delT ENST00000441802.2 - 5 3985 c.3776delA c.(3775-3777)agfs p.K1259fs NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 1259 Cadherin 11. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 TCGGTCTGGCTTTTCCCGCTC 0.468 HNSCC(5;0.00058) 10 1301 --- --- --- --- CDH10 1008 broad.mit.edu 37 5 24492973 24492973 + Frame_Shift_Del DEL A A - TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr5:24492973delA ENST00000264463.4 - 10 2084 c.1577delT c.(1576-1578)tcfs p.F526fs CDH10_ENST00000502921.1_5'UTR NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 526 Cadherin 5. 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) AGCTAAACTGAAAAAAAATTT 0.313 HNSCC(23;0.051) 10 948 --- --- --- --- PDZD2 23037 broad.mit.edu 37 5 32089076 32089076 + Frame_Shift_Del DEL A A - TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr5:32089076delA ENST00000438447.1 + 20 5910 c.5522delA c.(5521-5523)cafs p.Q1841fs PDZD2_ENST00000282493.3_Frame_Shift_Del_p.Q1841fs O15018 PDZD2_HUMAN PDZ domain containing 2 1841 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus p.V1845fs*6(1) NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 AGTTCAAGCCAAAAAAAGGGC 0.478 8 478 --- --- --- --- PDZD2 23037 broad.mit.edu 37 5 32090059 32090061 + In_Frame_Del DEL TCC TCC - rs61744453 by1000genomes TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr5:32090059_32090061delTCC ENST00000438447.1 + 20 6893_6895 c.6505_6507delTCC c.(6505-6507)del p.S2173del PDZD2_ENST00000282493.3_In_Frame_Del_p.S2173del O15018 PDZD2_HUMAN PDZ domain containing 2 2173 Ser-rich. cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 AAAACTGGCGTCCTCCTCCTCCT 0.527 7 851 --- --- --- --- ZFR 51663 broad.mit.edu 37 5 32419951 32419953 + In_Frame_Del DEL GGT GGT - TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr5:32419951_32419953delGGT ENST00000265069.8 - 3 495_497 c.393_395delACC c.(391-396)ccc>cc p.PP131del NM_016107.3 NP_057191.2 Q96KR1 ZFR_HUMAN zinc finger RNA binding protein 131 Ala-rich. multicellular organismal development chromosome|cytoplasm|nucleus DNA binding|RNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2) 32 STAD - Stomach adenocarcinoma(35;0.19) AGTAGCTGGGGGTGGTGGTGGTG 0.483 13 1070 --- --- --- --- FGF10 2255 broad.mit.edu 37 5 44388715 44388717 + In_Frame_Del DEL AGC AGC - TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr5:44388715_44388717delAGC ENST00000264664.4 - 1 182_184 c.68_70delGCT c.(67-72)ttt>t p.CF23del NM_004465.1 NP_004456.1 O15520 FGF10_HUMAN fibroblast growth factor 10 23 actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation cell surface|extracellular space|nucleus|plasma membrane chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1) 13 Lung NSC(6;1.12e-06) AGCAACAAAAAGCAGCAGCAGCA 0.537 8 320 --- --- --- --- EPB41L4A 64097 broad.mit.edu 37 5 111506659 111506660 + Frame_Shift_Del DEL CT CT - TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr5:111506659_111506660delCT ENST00000261486.5 - 19 1928_1929 c.1652_1653delAG c.(1651-1653)gfs p.E551fs EPB41L4A_ENST00000507810.1_5'UTR NM_022140.3 NP_071423.3 Q9HCS5 E41LA_HUMAN erythrocyte membrane protein band 4.1 like 4A 551 cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1) 34 all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135) OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791) GCTTCCATAACTCTTCTTTTGC 0.347 15 326 --- --- --- --- ZNF608 57507 broad.mit.edu 37 5 124079813 124079815 + In_Frame_Del DEL CTC CTC - TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr5:124079813_124079815delCTC ENST00000306315.5 - 1 1303_1305 c.868_870delGAG c.(868-870)del p.E290del ZNF608_ENST00000504926.1_Intron NM_020747.2 NP_065798.2 Q9ULD9 ZN608_HUMAN zinc finger protein 608 290 intracellular zinc ion binding breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1) 46 all_cancers(142;0.186)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783) GCCTGTGGCTCTCCTCCTCCTCC 0.522 8 1240 --- --- --- --- SLC22A4 6583 broad.mit.edu 37 5 131676327 131676327 + Frame_Shift_Del DEL T T - rs72552721 TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr5:131676327delT ENST00000200652.3 + 9 1688 c.1514delT c.(1513-1515)ctfs p.L505fs AC034220.3_ENST00000437091.1_RNA|AC034220.3_ENST00000417795.1_RNA NM_003059.2 NP_003050.2 Q9H015 S22A4_HUMAN solute carrier family 22 (organic cation/zwitterion transporter), member 4 505 body fluid secretion|sodium ion transport apical plasma membrane|integral to plasma membrane|mitochondrion ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity p.E509fs*1(1) endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1) 16 all_cancers(142;0.0752)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) L-Carnitine(DB00583) ATCCTCACCCTTTTTTTCCCT 0.418 10 777 --- --- --- --- PCDHB4 0 broad.mit.edu 37 5 140502486 140502487 + Frame_Shift_Ins INS - - A TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr5:140502486_140502487insA ENST00000194152.1 + 1 906_907 c.906_907insA c.(904-909)ttaaaafs p.LK302fs NM_018938.2 NP_061761.1 Q9Y5E5 PCDB4_HUMAN 302 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding p.K305fs*12(1) autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 67 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AAATACTGTTGAAAAAAAAATT 0.366 11 746 --- --- --- --- RBM24 221662 broad.mit.edu 37 6 17292126 17292128 + In_Frame_Del DEL GCT GCT - TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr6:17292126_17292128delGCT ENST00000379052.5 + 4 723_725 c.487_489delGCT c.(487-489)del p.A172del RBM24_ENST00000508508.1_3'UTR|RBM24_ENST00000318204.5_In_Frame_Del_p.A127del|RBM24_ENST00000425446.2_In_Frame_Del_p.A114del NM_001143942.1 NP_001137414.1 Q9BX46 RBM24_HUMAN RNA binding motif protein 24 172 Ala-rich. cell differentiation|regulation of mRNA stability|regulation of myotube differentiation cytoplasm|nucleus mRNA 3'-UTR binding|nucleotide binding endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1) 13 Breast(50;0.0615)|Ovarian(93;0.0733) all_hematologic(90;0.062) all cancers(50;0.131)|Epithelial(50;0.15) ATACTCAGCAgctgctgctgctg 0.606 7 470 --- --- --- --- MDFI 4188 broad.mit.edu 37 6 41621169 41621171 + In_Frame_Del DEL CTG CTG - TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr6:41621169_41621171delCTG ENST00000373050.4 + 4 601_603 c.414_416delCTG c.(412-417)ctc>ct p.LC138del Q99750 MDFI_HUMAN MyoD family inhibitor 199 cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway cytoplasm|nucleus endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1) 8 Ovarian(28;0.0327)|Colorectal(47;0.121) Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138) ACTCGTGCCTCTGCTGCTGCTGC 0.655 9 600 --- --- --- --- RUNX2 860 broad.mit.edu 37 6 45390446 45390448 + In_Frame_Del DEL CAG CAG - TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr6:45390446_45390448delCAG ENST00000371438.1 + 2 533_535 c.175_177delCAG c.(175-177)del p.Q71del RUNX2_ENST00000576263.1_In_Frame_Del_p.Q71del|RUNX2_ENST00000352853.5_In_Frame_Del_p.Q139del|RUNX2_ENST00000541979.1_In_Frame_Del_p.Q139del|RUNX2_ENST00000465038.2_In_Frame_Del_p.Q71del|RUNX2_ENST00000371432.3_In_Frame_Del_p.Q57del|RUNX2_ENST00000359524.5_In_Frame_Del_p.Q57del|RUNX2_ENST00000371436.6_In_Frame_Del_p.Q71del NM_001024630.3 NP_001019801.3 Q13950 RUNX2_HUMAN runt-related transcription factor 2 71 Poly-Gln. negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 gcagcagcaacagcagcagcagc 0.729 12 229 --- --- --- --- MAP3K7 6885 broad.mit.edu 37 6 91296568 91296570 + In_Frame_Del DEL GAG GAG - TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr6:91296568_91296570delGAG ENST00000369329.3 - 1 194_196 c.33_35delCTC c.(31-36)tcg>tc p.SS13del MAP3K7_ENST00000369327.3_In_Frame_Del_p.SS13del|MAP3K7_ENST00000369325.3_In_Frame_Del_p.SS13del|MAP3K7_ENST00000369332.3_In_Frame_Del_p.SS13del NM_145331.2 NP_663304.1 O43318 M3K7_HUMAN mitogen-activated protein kinase kinase kinase 7 13 Poly-Ser. activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 28 all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164) OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429) GGCCGAAGACGAGGAGGAGGAGG 0.655 8 136 --- --- --- --- MCHR2 84539 broad.mit.edu 37 6 100382358 100382358 + Frame_Shift_Del DEL A A - TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr6:100382358delA ENST00000281806.2 - 5 937 c.623delT c.(622-624)tcfs p.F208fs MCHR2_ENST00000445970.1_Frame_Shift_Del_p.F208fs|MCHR2_ENST00000369212.1_Frame_Shift_Del_p.F208fs NM_001040179.1 NP_001035269.1 Q969V1 MCHR2_HUMAN melanin-concentrating hormone receptor 2 208 integral to membrane|plasma membrane G-protein coupled receptor activity p.F208fs*5(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 39 all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069) BRCA - Breast invasive adenocarcinoma(108;0.0429) GGGTAGAGGGAAAAAAAAAGT 0.343 7 419 --- --- --- --- NOX3 50508 broad.mit.edu 37 6 155743925 155743926 + Frame_Shift_Del DEL CA CA - TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr6:155743925_155743926delCA ENST00000159060.2 - 10 1312_1313 c.1210_1211delTG c.(1210-1212)cfs p.C404fs NM_015718.2 NP_056533.1 Q9HBY0 NOX3_HUMAN NADPH oxidase 3 404 electron carrier activity|flavin adenine dinucleotide binding|iron ion binding cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1) 45 Breast(66;0.0183) OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815) CGCGGCAACGCACACACACACT 0.530 7 823 --- --- --- --- HOXA1 3198 broad.mit.edu 37 7 27135314 27135316 + In_Frame_Del DEL CGA CGA - rs10951154 byFrequency TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr7:27135314_27135316delCGA ENST00000343060.4 - 1 277_279 c.216_218delTCG c.(214-219)cac>ca p.HR72del HOXA1_ENST00000355633.5_In_Frame_Del_p.HR72del|HOTAIRM1_ENST00000495032.1_RNA 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 8 439 --- --- --- --- ZNF733P 0 broad.mit.edu 37 7 62752415 62752416 + RNA INS - - C TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr7:62752415_62752416insC ENST00000331425.6 - 0 1019_1020 NR_003952.1 GCATAGGGTTTTCTCTAGTATG 0.421 7 104 --- --- --- --- TYW1B 441250 broad.mit.edu 37 7 72040750 72040751 + RNA INS - - A rs72347331 TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr7:72040750_72040751insA ENST00000438125.1 - 0 1399 Q6NUM6 TYW1B_HUMAN tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae) tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity AACATCCCTAGAAAAAAAAAAT 0.332 7 136 --- --- --- --- TYW1B 441250 broad.mit.edu 37 7 72280990 72280991 + RNA DEL AC AC - rs6960315 TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr7:72280990_72280991delAC ENST00000438125.1 - 0 336 Q6NUM6 TYW1B_HUMAN tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae) tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity gtgtgtgtgtacgtgtgtgtgc 0.381 7 306 --- --- --- --- GTF2IRD2P1 0 broad.mit.edu 37 7 72683455 72683456 + RNA INS - - T TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr7:72683455_72683456insT ENST00000425256.1 - 0 120 NR_002164.1 CGTTCTACCAgtttttttttgt 0.441 7 551 --- --- --- --- MEPCE 56257 broad.mit.edu 37 7 100028823 100028825 + In_Frame_Del DEL CCA CCA - rs71555278 TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr7:100028823_100028825delCCA ENST00000310512.2 + 1 1570_1572 c.1182_1184delCCA c.(1180-1185)cgc>cg p.RH394del MEPCE_ENST00000414441.1_5'UTR NM_019606.5 NP_062552.2 Q7L2J0 MEPCE_HUMAN methylphosphate capping enzyme 394 methyltransferase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 24 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GGGGAGGCCGCCACCACCACCAC 0.581 12 445 --- --- --- --- TRBV7-8 0 broad.mit.edu 37 7 142099805 142099806 + RNA DEL AC AC - TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr7:142099805_142099806delAC ENST00000390359.3 - 0 88 TAGTCATcatacacacacacac 0.441 12 306 --- --- --- --- TRBV7-6 0 broad.mit.edu 37 7 142139663 142139664 + RNA DEL CG CG - TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr7:142139663_142139664delCG ENST00000390374.3 - 0 94 cacacacacacgcccacacgcc 0.470 7 262 --- --- --- --- PRSS3P2 0 broad.mit.edu 37 7 142481743 142481745 + RNA DEL CTA CTA - TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr7:142481743_142481745delCTA ENST00000603901.1 + 0 454 NR_001296.3 ACCCACATTTCTACTTTCTTTAT 0.517 10 282 --- --- --- --- PRSS3P2 0 broad.mit.edu 37 7 142482025 142482025 + RNA DEL A A - TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr7:142482025delA ENST00000603901.1 + 0 591 NR_001296.3 TGCAGTGCCCACATGGAGAAG 0.572 11 56 --- --- --- --- FAM66B 0 broad.mit.edu 37 8 7191540 7191541 + RNA DEL CA CA - TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr8:7191540_7191541delCA ENST00000606573.1 - 0 703 GGGGTGcacgcacacacacaca 0.530 18 178 --- --- --- --- SFRP1 6422 broad.mit.edu 37 8 41166638 41166640 + In_Frame_Del DEL GCT GCT - rs3055861 TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr8:41166638_41166640delGCT ENST00000220772.3 - 1 376_378 c.39_41delAGC c.(37-42)gcc>gc p.AA13del NM_003012.4 NP_003003.3 Q8N474 SFRP1_HUMAN secreted frizzled-related protein 1 13 brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|DNA fragmentation involved in apoptotic nuclear change|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of androgen receptor signaling pathway|negative regulation of B cell differentiation|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|osteoblast differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of Rac GTPase activity|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding|PDZ domain binding|Wnt receptor activity|Wnt-protein binding breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1) 7 Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211) all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559) BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174) CACGCCCAGGGCTGCCCCGCGGC 0.764 12 18 --- --- --- --- KAT6A 7994 broad.mit.edu 37 8 41798420 41798422 + In_Frame_Del DEL CTC CTC - TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr8:41798420_41798422delCTC ENST00000396930.3 - 16 3520_3522 c.2977_2979delGAG c.(2977-2979)del p.E993del KAT6A_ENST00000406337.1_In_Frame_Del_p.E993del|KAT6A_ENST00000265713.2_In_Frame_Del_p.E993del NM_001099412.1 NP_001092882.1 Q92794 MYST3_HUMAN K(lysine) acetyltransferase 6A 993 Poly-Glu. histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding GGCTTTCCGGCTCCTCCTCCTCC 0.567 16 939 --- --- --- --- PRKDC 5591 broad.mit.edu 37 8 48746799 48746799 + Frame_Shift_Del DEL T T - TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr8:48746799delT ENST00000314191.2 - 60 8163 c.8107delA c.(8107-8109)ggfs p.R2703fs PRKDC_ENST00000338368.3_Frame_Shift_Del_p.R2703fs|PRKDC_ENST00000523565.1_5'UTR NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 2704 KIP-binding. cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) AGGCCCAGCCTTTTTTTCCCA 0.498 Non-homologous end-joining 8 1891 --- --- --- --- TP53INP1 0 broad.mit.edu 37 8 95952409 95952411 + In_Frame_Del DEL TCT TCT - TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr8:95952409_95952411delTCT ENST00000342697.4 - 3 557_559 c.150_152delAGA c.(148-153)gag>ga p.EE50del TP53INP1_ENST00000448464.2_In_Frame_Del_p.EE50del|TP53INP1_ENST00000378776.4_In_Frame_Del_p.EE50del|NDUFAF6_ENST00000396113.1_Intron 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 8 263 --- --- --- --- PABPC1 26986 broad.mit.edu 37 8 101724994 101724995 + Frame_Shift_Ins INS - - A rs140822921 by1000genomes TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr8:101724994_101724995insA ENST00000318607.5 - 6 1889_1890 c.761_762insT c.(760-762)agafs p.R254fs PABPC1_ENST00000519596.1_5'UTR|PABPC1_ENST00000519004.1_Frame_Shift_Ins_p.R209fs|PABPC1_ENST00000522387.1_Frame_Shift_Ins_p.R222fs 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 9 307 --- --- --- --- PKHD1L1 93035 broad.mit.edu 37 8 110455173 110455174 + Splice_Site INS - - G TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr8:110455173_110455174insG ENST00000378402.5 + 36 4497 c.e36-1 NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) ATTTTATGGCAGGTTCATTTTC 0.322 HNSCC(38;0.096) 11 442 --- --- --- --- NR4A3 0 broad.mit.edu 37 9 102590616 102590618 + In_Frame_Del DEL CAC CAC - TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr9:102590616_102590618delCAC ENST00000330847.1 + 2 369_371 c.325_327delCAC c.(325-327)del p.H119del NR4A3_ENST00000338488.4_In_Frame_Del_p.H108del|NR4A3_ENST00000395097.2_In_Frame_Del_p.H108del Q92570 NR4A3_HUMAN nuclear receptor subfamily 4, group A, member 3 108 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2) Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189) ccatcaccatcaccaccaccacc 0.616 T EWSR1 extraskeletal myxoid chondrosarcoma 7 241 --- --- --- --- PALM2-AKAP2 0 broad.mit.edu 37 9 112899370 112899372 + In_Frame_Del DEL CAG CAG - TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr9:112899370_112899372delCAG ENST00000374530.3 + 8 1726_1728 c.1546_1548delCAG c.(1546-1548)del p.Q521del AKAP2_ENST00000374525.1_In_Frame_Del_p.Q379del|AKAP2_ENST00000510514.5_In_Frame_Del_p.Q521del|AKAP2_ENST00000434623.2_In_Frame_Del_p.Q379del|AKAP2_ENST00000259318.7_In_Frame_Del_p.Q290del|PALM2-AKAP2_ENST00000302798.7_In_Frame_Del_p.Q521del|AKAP2_ENST00000555236.1_In_Frame_Del_p.Q521del NM_007203.4|NM_147150.2 NP_009134.1|NP_671492.1 Q9Y2D5 AKAP2_HUMAN 290 enzyme binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 44 gaagcagttacagcagcagcagc 0.552 7 188 --- --- --- --- CNTRL 11064 broad.mit.edu 37 9 123875984 123875985 + Frame_Shift_Ins INS - - A TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr9:123875984_123875985insA ENST00000373855.1 + 10 1587_1588 c.1327_1328insA c.(1327-1329)aaafs p.K443fs CNTRL_ENST00000238341.5_Frame_Shift_Ins_p.K443fs|CNTRL_ENST00000373865.2_Frame_Shift_Ins_p.K443fs Q7Z7A1 CNTRL_HUMAN centriolin 443 cell division|G2/M transition of mitotic cell cycle centrosome|cytosol protein binding haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3) 20 GGAAGACAAAGAAAAAAAAATA 0.322 7 185 --- --- --- --- GOLGA2 2801 broad.mit.edu 37 9 131022880 131022881 + Frame_Shift_Ins INS - - A TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr9:131022880_131022881insA ENST00000421699.2 - 17 1552_1553 c.1540_1541insT c.(1540-1542)gggfs p.G514fs NM_004486.4 NP_004477.3 Q08379 GOGA2_HUMAN golgin A2 514 Golgi cisterna membrane protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 34 CTGCTCCCCCCAGAGCTCGGCC 0.653 96 1013 --- --- --- --- TSC1 0 broad.mit.edu 37 9 135771988 135771990 + In_Frame_Del DEL GCT GCT - TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr9:135771988_135771990delGCT ENST00000298552.3 - 23 3348_3350 c.3127_3129delAGC c.(3127-3129)del p.S1043del TSC1_ENST00000440111.2_In_Frame_Del_p.S1043del|TSC1_ENST00000545250.1_In_Frame_Del_p.S992del NM_000368.4|NM_001162426.1|NM_001162427.1 NP_000359.1|NP_001155898.1|NP_001155899.1 Q92574 TSC1_HUMAN tuberous sclerosis 1 1043 Poly-Ser. activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus cell cortex|lamellipodium|membrane|TSC1-TSC2 complex chaperone binding|protein N-terminus binding p.S1043N(1)|p.?(1) NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 65 OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06) TAGAAAGCTCgctgctgctgctg 0.640 """D, Mis, N, F, S""" """hamartoma, renal cell""" Tuberous Sclerosis 7 292 --- --- --- --- SYT15 83849 broad.mit.edu 37 10 46969401 46969403 + In_Frame_Del DEL CAG CAG - TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr10:46969401_46969403delCAG ENST00000374325.3 - 2 210_212 c.58_60delCTG c.(58-60)del p.L21del SYT15_ENST00000503753.1_In_Frame_Del_p.L21del|SYT15_ENST00000374323.3_Intron|SYT15_ENST00000374321.4_In_Frame_Del_p.L21del NM_181519.2 NP_852660.1 Q9BQS2 SYT15_HUMAN synaptotagmin XV 21 integral to membrane|plasma membrane cervix(1)|endometrium(5)|kidney(2)|lung(5) 13 CCCCGATCAACAGCAGCAGCAGC 0.631 8 231 --- --- --- --- PCDH15 65217 broad.mit.edu 37 10 55587198 55587200 + In_Frame_Del DEL GGC GGC - rs12246234 TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr10:55587198_55587200delGGC ENST00000373965.2 - 33 4735_4737 c.4341_4343delGCC c.(4339-4344)cct>cc p.PP1449del PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395430.1_In_Frame_Del_p.PP1439del|PCDH15_ENST00000414778.1_In_Frame_Del_p.PP1444del|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395432.2_In_Frame_Del_p.PP1402del|PCDH15_ENST00000395438.1_In_Frame_Del_p.PP1442del|PCDH15_ENST00000409834.1_In_Frame_Del_p.PP1053del|PCDH15_ENST00000395433.1_In_Frame_Del_p.PP1417del|PCDH15_ENST00000361849.3_In_Frame_Del_p.PP1442del|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000437009.1_In_Frame_Del_p.PP1371del|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000320301.6_In_Frame_Del_p.PP1442del|PCDH15_ENST00000395445.1_In_Frame_Del_p.PP1449del NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 1442 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 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) ACCTggcggaggcggcggcggcg 0.571 HNSCC(58;0.16) 7 474 --- --- --- --- RUFY2 55680 broad.mit.edu 37 10 70156583 70156583 + Frame_Shift_Del DEL T T - TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr10:70156583delT ENST00000388768.2 - 4 783 c.457delA c.(457-459)tgfs p.M153fs RUFY2_ENST00000399200.2_Intron|RUFY2_ENST00000602465.1_Frame_Shift_Del_p.M118fs|RUFY2_ENST00000454950.2_Frame_Shift_Del_p.M60fs|RUFY2_ENST00000342616.4_Frame_Shift_Del_p.M118fs|RUFY2_ENST00000472394.2_5'UTR NM_017987.4 NP_060457.4 Q8WXA3 RUFY2_HUMAN RUN and FYVE domain containing 2 167 RUN. nucleus metal ion binding NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2) 20 TAATCGGCCATTTTTTTTTGC 0.398 13 325 --- --- --- --- DNA2 1763 broad.mit.edu 37 10 70182521 70182521 + Frame_Shift_Del DEL A A - TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr10:70182521delA ENST00000399180.2 - 15 2592 c.2593delT c.(2593-2595)cafs p.S865fs DNA2_ENST00000358410.3_Frame_Shift_Del_p.S779fs|DNA2_ENST00000399179.2_Intron P51530 DNA2L_HUMAN DNA replication helicase/nuclease 2 779 base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication mitochondrial nucleoid|nucleoplasm 5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base p.S779fs*6(1)|p.S865fs*6(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1) 20 AATCTCCGTGAAAAAAAAAGG 0.403 7 168 --- --- --- --- LZTS2 84445 broad.mit.edu 37 10 102763415 102763417 + In_Frame_Del DEL CCT CCT - TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc 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 11 1252 --- --- --- --- NT5C2 22978 broad.mit.edu 37 10 104849436 104849438 + In_Frame_Del DEL TCC TCC - TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr10:104849436_104849438delTCC ENST00000343289.5 - 18 1764_1766 c.1677_1679delGGA c.(1675-1680)gaa>ga p.EE559del NT5C2_ENST00000423468.2_In_Frame_Del_p.EE530del|NT5C2_ENST00000404739.3_In_Frame_Del_p.EE559del|NT5C2_ENST00000369857.4_5'UTR NM_001134373.2|NM_012229.4 NP_001127845.1|NP_036361.1 P49902 5NTC_HUMAN 5'-nucleotidase, cytosolic II 559 Asp/Glu-rich (acidic). purine base metabolic process|purine nucleotide catabolic process cytosol 5'-nucleotidase activity|metal ion binding|nucleotide binding|protein binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|urinary_tract(1) 16 all_hematologic(284;0.176)|Colorectal(252;0.178) Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159) Adenosine triphosphate(DB00171)|Ribavirin(DB00811) tccttattcttcctcctcctcct 0.502 7 186 --- --- --- --- CPXM2 119587 broad.mit.edu 37 10 125528165 125528167 + In_Frame_Del DEL CAG CAG - TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc 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 8 972 --- --- --- --- NAV2 89797 broad.mit.edu 37 11 19901475 19901477 + In_Frame_Del DEL AGC AGC - TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr11:19901475_19901477delAGC ENST00000396085.1 + 5 933_935 c.572_574delAGC c.(571-576)aag>a p.KQ191del NAV2_ENST00000527559.2_In_Frame_Del_p.KQ120del|NAV2_ENST00000360655.4_In_Frame_Del_p.KQ127del|NAV2_ENST00000396087.3_In_Frame_Del_p.KQ191del|NAV2_ENST00000540292.1_In_Frame_Del_p.KQ122del|NAV2_ENST00000534229.1_3'UTR|NAV2_ENST00000349880.4_In_Frame_Del_p.KQ191del NM_182964.5 NP_892009.3 Q8IVL1 NAV2_HUMAN neuron navigator 2 191 CH. nucleus ATP binding|helicase activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 116 TCCCGATACAagcagcagcagca 0.611 12 462 --- --- --- --- RSF1 51773 broad.mit.edu 37 11 77412696 77412696 + Frame_Shift_Del DEL T T - TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr11:77412696delT ENST00000308488.6 - 6 1880 c.1578delA c.(1576-1578)aafs p.K526fs RSF1_ENST00000360355.2_Frame_Shift_Del_p.K495fs|RSF1_ENST00000480887.1_Frame_Shift_Del_p.K274fs Q96T23 RSF1_HUMAN remodeling and spacing factor 1 526 CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent RSF complex histone binding|protein binding|zinc ion binding breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152) Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31) CTATTTGTGCTTTTTGACTAT 0.393 47 838 --- --- --- --- MMP12 4321 broad.mit.edu 37 11 102738793 102738794 + RNA INS - - T rs35342965 by1000genomes TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr11:102738793_102738794insT ENST00000532855.1 - 0 727_728 P39900 MMP12_HUMAN matrix metallopeptidase 12 (macrophage elastase) positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 26 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.014) Acetohydroxamic Acid(DB00551) TGAGGAACAAGTGGTGCCTAAG 0.416 12 48 --- --- --- --- OR8D4 338662 broad.mit.edu 37 11 123777441 123777442 + Frame_Shift_Ins INS - - T rs79561639 byFrequency TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr11:123777441_123777442insT ENST00000321355.2 + 1 333_334 c.303_304insT c.(301-306)ctttttfs p.LF101fs NM_001005197.1 NP_001005197.1 Q8NGM9 OR8D4_HUMAN olfactory receptor, family 8, subfamily D, member 4 101 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 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;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409) TGATTCAGCTGTTTTTTTTCTG 0.436 11 1286 --- --- --- --- SCAF11 9169 broad.mit.edu 37 12 46320707 46320708 + Frame_Shift_Del DEL TC TC - TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr12:46320707_46320708delTC ENST00000465950.1 - 1 3040_3041 c.1831_1832delGA c.(1831-1833)afs p.E611fs SCAF11_ENST00000419565.2_Frame_Shift_Del_p.E926fs|SCAF11_ENST00000369367.3_Frame_Shift_Del_p.E926fs|SCAF11_ENST00000549162.1_Frame_Shift_Del_p.E734fs Q99590 SCAFB_HUMAN SR-related CTD-associated factor 11 926 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 GGTTCTCCTTTCTCTCTCTCTC 0.446 10 722 --- --- --- --- R3HDM2 22864 broad.mit.edu 37 12 57674205 57674207 + In_Frame_Del DEL TGC TGC - TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr12:57674205_57674207delTGC ENST00000402412.1 - 14 1668_1670 c.1278_1280delGCA c.(1276-1281)caa>ca p.QQ426del R3HDM2_ENST00000413953.2_In_Frame_Del_p.QQ139del|RP11-123K3.4_ENST00000548184.1_RNA|R3HDM2_ENST00000347140.3_In_Frame_Del_p.QQ412del|R3HDM2_ENST00000393811.2_In_Frame_Del_p.QQ139del|R3HDM2_ENST00000358907.2_In_Frame_Del_p.QQ412del|R3HDM2_ENST00000441731.2_In_Frame_Del_p.QQ73del|R3HDM2_ENST00000403821.2_In_Frame_Del_p.QQ412del 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 7 505 --- --- --- --- MBD6 0 broad.mit.edu 37 12 57919302 57919302 + Frame_Shift_Del DEL T T - TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr12:57919302delT ENST00000355673.3 + 6 907 c.551delT c.(550-552)ctfs p.L184fs MBD6_ENST00000431731.2_Frame_Shift_Del_p.L184fs NM_052897.3 NP_443129.3 Q96DN6 MBD6_HUMAN methyl-CpG binding domain protein 6 184 Pro-rich. chromosome|nucleus chromatin binding|DNA binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1) 31 CCTGGGGGGCTTTTCCCCCCA 0.637 7 879 --- --- --- --- MBD6 0 broad.mit.edu 37 12 57921401 57921401 + Frame_Shift_Del DEL C C - TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr12:57921401delC ENST00000355673.3 + 8 2550 c.2194delC c.(2194-2196)ccfs p.P733fs MBD6_ENST00000431731.2_Frame_Shift_Del_p.P733fs NM_052897.3 NP_443129.3 Q96DN6 MBD6_HUMAN methyl-CpG binding domain protein 6 733 Pro-rich. chromosome|nucleus chromatin binding|DNA binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1) 31 CTCAGGGAGACCCCCCCAACT 0.602 9 1087 --- --- --- --- ZFC3H1 196441 broad.mit.edu 37 12 72057256 72057258 + In_Frame_Del DEL GCT GCT - TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr12:72057256_72057258delGCT ENST00000378743.3 - 1 491_493 c.133_135delAGC c.(133-135)del p.S45del ZFC3H1_ENST00000548100.1_In_Frame_Del_p.S45del|THAP2_ENST00000308086.2_5'UTR|ZFC3H1_ENST00000552037.1_In_Frame_Del_p.S45del NM_144982.4 NP_659419.3 O60293 ZC3H1_HUMAN zinc finger, C3H1-type containing 45 Ser-rich. RNA processing intracellular metal ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 GCCCGCCGCCGCTGCTGCTGCTG 0.631 OREG0021993 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 799 --- --- --- --- DDX55 57696 broad.mit.edu 37 12 124103201 124103202 + Translation_Start_Site DEL TG TG - TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr12:124103201_124103202delTG ENST00000421670.3 + 0 639_640 DDX55_ENST00000238146.4_Intron|DDX55_ENST00000541259.1_Intron|DDX55_ENST00000538744.1_Intron Q8NHQ9 DDX55_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 55 ATP binding|ATP-dependent helicase activity|RNA binding autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1) 14 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772) GAATGTGGTATGTGTGTGTGTG 0.520 OREG0022230 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 274 --- --- --- --- TSC22D1 8848 broad.mit.edu 37 13 45010700 45010701 + Frame_Shift_Ins INS - - A TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr13:45010700_45010701insA ENST00000261489.2 - 1 280_281 c.64_65insT c.(64-66)aatfs p.N22fs TSC22D1_ENST00000501704.2_Intron|TSC22D1_ENST00000458659.2_Intron NM_006022.3 NP_006013.1 Q15714 T22D1_HUMAN TSC22 domain family, member 1 818 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) GAAAGAAATTGAAAAATGTCTC 0.396 93 1110 --- --- --- --- KIAA1704 0 broad.mit.edu 37 13 45580365 45580367 + In_Frame_Del DEL GAT GAT - rs138421508 TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr13:45580365_45580367delGAT ENST00000361121.2 + 3 285_287 c.250_252delGAT c.(250-252)del p.D88del KIAA1704_ENST00000357537.3_De_novo_Start_InFrame|RP11-321C24.1_ENST00000437748.2_lincRNA|KIAA1704_ENST00000379151.4_In_Frame_Del_p.D88del Q8IXQ4 K1704_HUMAN 88 Poly-Asp. breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|prostate(2)|skin(1) 12 Lung NSC(96;0.00143)|Prostate(109;0.0137)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000313)|BRCA - Breast invasive adenocarcinoma(63;0.126) Ggatgatgacgatgatgatgatg 0.335 16 948 --- --- --- --- CKAP2 0 broad.mit.edu 37 13 53049034 53049034 + Frame_Shift_Del DEL A A - TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr13:53049034delA ENST00000378037.5 + 9 1900 c.1810delA c.(1810-1812)aafs p.K606fs CKAP2_ENST00000258607.5_Frame_Shift_Del_p.K605fs|CKAP2_ENST00000490903.1_Frame_Shift_Del_p.K557fs NM_001098525.1|NM_018204.3 NP_001091995.1|NP_060674.3 Q8WWK9 CKAP2_HUMAN cytoskeleton associated protein 2 606 apoptosis|cell cycle centrosome|microtubule|spindle pole p.K605fs*14(2) breast(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(3)|skin(1)|urinary_tract(1) 20 Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.6e-08) TTTCAGTGTGAAAAAAAAGGT 0.318 7 224 --- --- --- --- TRAV24 0 broad.mit.edu 37 14 22573824 22573825 + RNA INS - - A rs112427980 by1000genomes TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr14:22573824_22573825insA ENST00000390453.1 + 0 55 TGACTCTTTTTTAAAAAAACAG 0.450 7 48 --- --- --- --- RBM25 58517 broad.mit.edu 37 14 73572607 73572608 + Frame_Shift_Del DEL AG AG - TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr14:73572607_73572608delAG ENST00000261973.7 + 11 1480_1481 c.1195_1196delAG c.(1195-1197)afs p.R399fs RBM25_ENST00000527432.1_Frame_Shift_Del_p.R399fs NM_021239.2 NP_067062.1 P49756 RBM25_HUMAN RNA binding motif protein 25 399 Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization. apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing cytoplasm|nuclear speck mRNA binding|nucleotide binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1) 31 BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688) agagcgggaaagagagagagag 0.446 15 130 --- --- --- --- BTBD7 55727 broad.mit.edu 37 14 93712186 93712188 + In_Frame_Del DEL TGC TGC - TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr14:93712186_93712188delTGC ENST00000334746.5 - 10 2873_2875 c.2566_2568delGCA c.(2566-2568)del p.A856del BTBD7_ENST00000554565.1_In_Frame_Del_p.A505del|BTBD7_ENST00000393170.2_In_Frame_Del_p.A430del NM_001002860.2 NP_001002860.2 Q9P203 BTBD7_HUMAN BTB (POZ) domain containing 7 856 Poly-Ala. breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1) 35 all_cancers(154;0.08) Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223) GCTTCTCAGAtgctgctgctgct 0.537 8 270 --- --- --- --- GOLGA8DP 0 broad.mit.edu 37 15 22709287 22709288 + RNA DEL AG AG - TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr15:22709287_22709288delAG ENST00000314246.8 - 0 1157 CAaaaaaaaaagaaaagaaaag 0.515 9 201 --- --- --- --- HERC2P2 0 broad.mit.edu 37 15 23331163 23331163 + RNA DEL A A - TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr15:23331163delA ENST00000560464.1 - 0 908 AATAAATACTAAAAAAAAAAA 0.368 7 61 --- --- --- --- SRP14 6727 broad.mit.edu 37 15 40328597 40328599 + In_Frame_Del DEL TGC TGC - TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr15:40328597_40328599delTGC ENST00000267884.6 - 5 417_419 c.346_348delGCA c.(346-348)del p.A116del SRP14_ENST00000558527.1_5'UTR|SRP14_ENST00000558720.1_In_Frame_Del_p.A36del|SRP14_ENST00000560773.1_In_Frame_Del_p.A36del NM_003134.4 NP_003125.3 P37108 SRP14_HUMAN signal recognition particle 14kDa (homologous Alu RNA binding protein) 116 Ala/Thr-rich. negative regulation of translational elongation|response to drug|SRP-dependent cotranslational protein targeting to membrane cytosol|signal recognition particle, endoplasmic reticulum targeting 7S RNA binding|endoplasmic reticulum signal peptide binding|protein binding endometrium(1)|skin(1)|upper_aerodigestive_tract(1) 3 all_cancers(109;7.56e-18)|all_epithelial(112;4.02e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;1.84e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0505) ctgcggcaggtgctgctgctgct 0.478 7 414 --- --- --- --- PLA2G4F 255189 broad.mit.edu 37 15 42439919 42439920 + Frame_Shift_Ins INS - - C rs139732075 by1000genomes TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr15:42439919_42439920insC ENST00000397272.3 - 12 1197_1198 c.1106_1107insG c.(1105-1107)cgcfs p.R369fs PLA2G4F_ENST00000382396.4_Frame_Shift_Ins_p.R367fs NM_213600.3 NP_998765.3 Q68DD2 PA24F_HUMAN phospholipase A2, group IVF 367 PLA2c. phospholipid catabolic process cytosol|lysosomal membrane metal ion binding|phospholipase A2 activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 32 all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(94;8.97e-07) AAGACATGGCTCGGGTTCCACC 0.554 8 607 --- --- --- --- HMGN2P46 0 broad.mit.edu 37 15 45848231 45848231 + RNA DEL T T - TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr15:45848231delT ENST00000409454.1 + 0 1226 TTTGTTTAGCTTTTTTTTTTT 0.323 11 76 --- --- --- --- MTFMT 123263 broad.mit.edu 37 15 65312612 65312613 + Splice_Site INS - - A TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr15:65312612_65312613insA ENST00000220058.4 - 5 659 c.e5-2 NM_139242.3 NP_640335.2 Q96DP5 FMT_HUMAN mitochondrial methionyl-tRNA formyltransferase mitochondrion methionyl-tRNA formyltransferase activity|methyltransferase activity endometrium(1)|large_intestine(3)|lung(3)|ovary(3) 10 Tetrahydrofolic acid(DB00116) TGAAATGAGCTACAAAAAAAAA 0.381 7 104 --- --- --- --- CPLX3 594855 broad.mit.edu 37 15 75122558 75122560 + In_Frame_Del DEL GAG GAG - TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr15:75122558_75122560delGAG ENST00000395018.4 + 3 497_499 c.340_342delGAG c.(340-342)del p.E118del RP11-414J4.2_ENST00000564823.1_RNA NM_001030005.2 NP_001025176.1 Q8WVH0 CPLX3_HUMAN complexin 3 118 cell junction|synapse syntaxin binding large_intestine(2)|lung(2) 4 GGAGGACACAGAGGAGGAGGAGG 0.616 7 391 --- --- --- --- RP11-266O8.1 0 broad.mit.edu 37 15 93974509 93974510 + RNA DEL TC TC - rs57286078 TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr15:93974509_93974510delTC ENST00000543286.1 + 0 545 TTGGCTGGGTTCtttttttttt 0.431 8 176 --- --- --- --- C16orf62 57020 broad.mit.edu 37 16 19580800 19580802 + In_Frame_Del DEL TCC TCC - TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr16:19580800_19580802delTCC ENST00000438132.3 + 3 487_489 c.439_441delTCC c.(439-441)del p.S153del C16orf62_ENST00000251143.5_In_Frame_Del_p.S64del|C16orf62_ENST00000542263.1_In_Frame_Del_p.S153del|C16orf62_ENST00000417362.2_In_Frame_Del_p.S64del|C16orf62_ENST00000538853.1_In_Frame_Del_p.S153del NM_020314.5 NP_064710.4 Q7Z3J2 CP062_HUMAN chromosome 16 open reading frame 62 64 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 36 TTCTTCCACGTCCTCCTCCTCCT 0.562 8 381 --- --- --- --- RRN3P2 0 broad.mit.edu 37 16 29110406 29110406 + RNA DEL T T - TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr16:29110406delT ENST00000564580.1 + 0 1098 TTAAAAAATCTTTTTTTTTTT 0.299 8 79 --- --- --- --- ITGAL 0 broad.mit.edu 37 16 30531249 30531251 + In_Frame_Del DEL GCT GCT - TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr16:30531249_30531251delGCT ENST00000356798.6 + 30 3480_3482 c.3300_3302delGCT c.(3298-3303)ggg>gg p.GL1100del ITGAL_ENST00000433423.2_In_Frame_Del_p.GL334del|ITGAL_ENST00000358164.5_In_Frame_Del_p.GL1016del NM_002209.2 NP_002200.2 P20701 ITAL_HUMAN integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) 1100 blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell integrin complex cell adhesion molecule binding|receptor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 76 Efalizumab(DB00095) GCATCGGGGGGCTGCTGCTGCTG 0.601 8 993 --- --- --- --- SRCAP 10847 broad.mit.edu 37 16 30736370 30736371 + Frame_Shift_Ins INS - - C TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr16:30736370_30736371insC ENST00000262518.4 + 25 6010_6011 c.5625_5626insC c.(5623-5628)caccccfs p.HP1875fs SRCAP_ENST00000344771.4_Frame_Shift_Ins_p.HP1717fs|SRCAP_ENST00000395059.2_Frame_Shift_Ins_p.HP1813fs NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 1875 Pro-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) CTCGACGCCAGCCCCCCCCACC 0.569 13 789 --- --- --- --- RP11-23E10.4 0 broad.mit.edu 37 16 33365420 33365420 + RNA DEL A A - TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr16:33365420delA ENST00000568520.1 - 0 249 TACAAACTATAAAAAAACAGA 0.358 10 107 --- --- --- --- CDH3 1001 broad.mit.edu 37 16 68718504 68718504 + Frame_Shift_Del DEL A A - TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc 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 8 1717 --- --- --- --- ZFHX3 463 broad.mit.edu 37 16 72991713 72991715 + In_Frame_Del DEL CCA CCA - rs4788682 by1000genomes TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc 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 8 383 --- --- --- --- GSE1 23199 broad.mit.edu 37 16 85682289 85682290 + Frame_Shift_Ins INS - - C TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr16:85682289_85682290insC ENST00000253458.7 + 3 534_535 c.358_359insC c.(358-360)cccfs p.P120fs GSE1_ENST00000393243.1_Frame_Shift_Ins_p.P47fs|GSE1_ENST00000405402.2_Frame_Shift_Ins_p.P16fs NM_014615.2 NP_055430.1 Gse1 coiled-coil protein p.V123fs*2(1) CGTGCCCAGCACCCCCCCCGTG 0.688 14 528 --- --- --- --- FXR2 9513 broad.mit.edu 37 17 7495872 7495874 + In_Frame_Del DEL CGG CGG - TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr17:7495872_7495874delCGG ENST00000250113.7 - 15 2107_2109 c.1773_1775delCCG c.(1771-1776)cgt>cg p.RR591del MPDU1_ENST00000423172.2_3'UTR NM_004860.3 NP_004851.2 P51116 FXR2_HUMAN fragile X mental retardation, autosomal homolog 2 591 Poly-Arg. R -> P (in dbSNP:rs36013555). cytosolic large ribosomal subunit protein binding|RNA binding NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1) 26 READ - Rectum adenocarcinoma(115;0.17) ACCACGGTTACGGCGGCGGCGGC 0.547 7 1349 --- --- --- --- CNTROB 116840 broad.mit.edu 37 17 7843518 7843519 + Frame_Shift_Del DEL GA GA - TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr17:7843518_7843519delGA ENST00000380262.3 + 9 2194_2195 c.1269_1270delGA c.(1267-1272)cggafs p.RR423fs CNTROB_ENST00000380255.3_Frame_Shift_Del_p.RR423fs|CNTROB_ENST00000565740.1_Frame_Shift_Del_p.RR423fs|CNTROB_ENST00000563694.1_Frame_Shift_Del_p.RR423fs NM_001037144.5 NP_001032221.1 Q8N137 CNTRB_HUMAN centrobin, centrosomal BRCA2 interacting protein 423 Required for centrosome localization. centriole replication|centrosome separation|cytokinesis centriole protein domain specific binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9) 25 Prostate(122;0.173) ATACAGCTCGGAGAGAGAGAGA 0.579 8 627 --- --- --- --- MED9 55090 broad.mit.edu 37 17 17394705 17394707 + In_Frame_Del DEL CAG CAG - TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc 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 8 976 --- --- --- --- POLDIP2 26073 broad.mit.edu 37 17 26684394 26684395 + Splice_Site INS - - G rs113730440 TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr17:26684394_26684395insG ENST00000540200.1 - 1 78 c.e1+1 POLDIP2_ENST00000003607.4_5'UTR NM_015584.3 NP_056399.1 Q9Y2S7 PDIP2_HUMAN polymerase (DNA-directed), delta interacting protein 2 mitochondrial nucleoid|nucleus all_lung(13;0.000354)|Lung NSC(42;0.00115) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) AGAGCGGCTTTGCCACCGGGCC 0.762 8 43 --- --- --- --- SSH2 85464 broad.mit.edu 37 17 27959374 27959375 + Frame_Shift_Ins INS - - G TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr17:27959374_27959375insG ENST00000269033.3 - 15 2907_2908 c.2756_2757insC c.(2755-2757)cgafs p.R919fs RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Frame_Shift_Ins_p.R946fs NM_033389.2 NP_203747.2 Q76I76 SSH2_HUMAN slingshot protein phosphatase 2 919 actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity SSH2/SUZ12(2) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 ATGAATGTTCTGGGGGGGCTTC 0.480 7 1525 --- --- --- --- KRTAP9-1 0 broad.mit.edu 37 17 39346425 39346427 + In_Frame_Del DEL GTG GTG - TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr17:39346425_39346427delGTG ENST00000398470.1 + 1 287_289 c.287_289delGTG c.(286-291)tgc>t p.CG96del KRTAP9-1_ENST00000318329.5_Splice_Site_p.CG46_splice|KRTAP9-1_ENST00000377723.3_Intron NM_001190460.1 NP_001177389.1 A8MXZ3 KRA91_HUMAN keratin associated protein 9-1 96 30 X 5 AA repeats of C-C-[CGSVRQH]- [SQTNP]-[PTSI]. keratin filament breast(1)|lung(3) 4 TCCAGCTGCTGTGGCCAAACCAG 0.606 14 147 --- --- --- --- STAT5B 6777 broad.mit.edu 37 17 40370236 40370236 + Frame_Shift_Del DEL G G - rs144993426 TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr17:40370236delG ENST00000293328.3 - 9 1270 c.1102delC c.(1102-1104)agfs p.Q368fs NM_012448.3 NP_036580.2 P51692 STA5B_HUMAN signal transducer and activator of transcription 5B 368 2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cytosol|nucleoplasm calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.135) Dasatinib(DB01254) GCCTTCACCTGGGGGGGGTTC 0.577 8 324 --- --- --- --- TOB1 10140 broad.mit.edu 37 17 48940610 48940612 + In_Frame_Del DEL GTG GTG - TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr17:48940610_48940612delGTG ENST00000499247.2 - 2 1200_1202 c.767_769delCAC c.(766-771)cag>c p.PQ256del TOB1_ENST00000268957.3_In_Frame_Del_p.PQ256del NM_001243885.1|NM_005749.3 NP_001230814.1|NP_005740.1 P50616 TOB1_HUMAN transducer of ERBB2, 1 256 Poly-Pro. negative regulation of cell proliferation SH3/SH2 adaptor activity breast(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 BRCA - Breast invasive adenocarcinoma(22;1.09e-08) tgttgctgctgtggtggtggtgg 0.517 9 275 --- --- --- --- AKAP1 8165 broad.mit.edu 37 17 55183460 55183460 + Frame_Shift_Del DEL A A - TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr17:55183460delA ENST00000337714.3 + 2 868 c.635delA c.(634-636)gafs p.E212fs AKAP1_ENST00000539273.1_Frame_Shift_Del_p.E212fs|AKAP1_ENST00000572557.1_Frame_Shift_Del_p.E212fs|AKAP1_ENST00000571629.1_Frame_Shift_Del_p.E212fs|AKAP1_ENST00000314126.3_Frame_Shift_Del_p.E212fs NM_003488.3 NP_003479.1 Q92667 AKAP1_HUMAN A kinase (PRKA) anchor protein 1 212 blood coagulation cytosol|integral to membrane|mitochondrial outer membrane protein binding|RNA binding endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1) 14 Breast(9;5.46e-08) GTGTTGGGGGAAAAGGTGCTT 0.587 7 597 --- --- --- --- NEDD4L 0 broad.mit.edu 37 18 55992284 55992286 + In_Frame_Del DEL TCC TCC - TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr18:55992284_55992286delTCC ENST00000456986.1 + 9 807_809 c.207_209delTCC c.(205-210)ctt>ct p.LP69del NEDD4L_ENST00000435432.2_In_Frame_Del_p.LP69del|NEDD4L_ENST00000357895.5_In_Frame_Del_p.LP182del|NEDD4L_ENST00000256832.7_In_Frame_Del_p.LP69del|NEDD4L_ENST00000586263.1_In_Frame_Del_p.LP182del|NEDD4L_ENST00000400345.3_In_Frame_Del_p.LP190del|NEDD4L_ENST00000256830.9_In_Frame_Del_p.LP190del|NEDD4L_ENST00000382850.4_In_Frame_Del_p.LP190del|NEDD4L_ENST00000456173.2_In_Frame_Del_p.LP69del|NEDD4L_ENST00000431212.2_In_Frame_Del_p.LP69del|NEDD4L_ENST00000356462.6_In_Frame_Del_p.LP190del|NEDD4L_ENST00000589054.1_Intron NM_001144964.1 NP_001138436.1 Q96PU5 NED4L_HUMAN neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase 190 C2. cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis cytoplasm protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4) 37 AAGAGGAACTTCCTCCTCCTCCT 0.498 11 856 --- --- --- --- DNMT1 1786 broad.mit.edu 37 19 10262139 10262139 + Frame_Shift_Del DEL T T - TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr19:10262139delT ENST00000340748.4 - 23 2387 c.2152delA c.(2152-2154)tgfs p.M718fs DNMT1_ENST00000359526.4_Frame_Shift_Del_p.M734fs|DNMT1_ENST00000540357.1_Frame_Shift_Del_p.M718fs P26358 DNMT1_HUMAN DNA (cytosine-5-)-methyltransferase 1 718 chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent nucleus DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06) Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035) CCCTGGTGCATTTTTTTGGGT 0.507 12 815 --- --- --- --- ZNF44 51710 broad.mit.edu 37 19 12384448 12384448 + Frame_Shift_Del DEL A A - TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr19:12384448delA ENST00000356109.5 - 5 884 c.766delT c.(766-768)ggfs p.W256fs ZNF44_ENST00000355684.5_Frame_Shift_Del_p.W208fs NM_001164276.1 NP_001157748.1 P15621 ZNF44_HUMAN zinc finger protein 44 256 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton|nucleus DNA binding|protein binding|zinc ion binding ovary(1) 1 Renal(1328;0.157) GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179) AAACTGGGCCAAAAAAAGGCT 0.398 7 510 --- --- --- --- ZNF563 147837 broad.mit.edu 37 19 12430217 12430217 + Frame_Shift_Del DEL A A - TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr19:12430217delA ENST00000293725.5 - 4 827 c.622delT c.(622-624)ggfs p.W208fs ZNF563_ENST00000595977.1_Intron NM_145276.2 NP_660319.1 Q8TA94 ZN563_HUMAN zinc finger protein 563 208 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 AAACTGGGCCAAAAAAAAGCT 0.393 9 698 --- --- --- --- HAMP 57817 broad.mit.edu 37 19 35773520 35773522 + In_Frame_Del DEL CTC CTC - TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr19:35773520_35773522delCTC ENST00000598398.1 + 2 336_338 c.40_42delCTC c.(40-42)del p.L18del HAMP_ENST00000222304.3_In_Frame_Del_p.L18del NM_021175.2 NP_066998.1 P81172 HEPC_HUMAN hepcidin antimicrobial peptide 18 defense response to bacterium|defense response to fungus|immune response|killing of cells of other organism extracellular region hormone activity breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1) 4 all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162) Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417) TTGCCTCCTGCTCCTCCTCCTCC 0.640 11 1009 --- --- --- --- C19orf55 148137 broad.mit.edu 37 19 36255947 36255949 + In_Frame_Del DEL CTC CTC - TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc 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 7 1270 --- --- --- --- LIPE-AS1 0 broad.mit.edu 37 19 43136362 43136363 + RNA DEL TG TG - TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr19:43136362_43136363delTG ENST00000594688.1 + 0 1450 LIPE-AS1_ENST00000594624.2_RNA NR_073179.1 TGAGTATGTATGTGTGTGTGTG 0.505 8 144 --- --- --- --- MAMSTR 284358 broad.mit.edu 37 19 49218105 49218106 + Frame_Shift_Ins INS - - G TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr19:49218105_49218106insG ENST00000318083.6 - 6 548_549 c.485_486insC c.(484-486)ccafs p.P162fs MAMSTR_ENST00000419611.1_Frame_Shift_Ins_p.P59fs|MAMSTR_ENST00000377367.3_Frame_Shift_Ins_p.P59fs|MAMSTR_ENST00000356751.4_Frame_Shift_Ins_p.P59fs|MAMSTR_ENST00000594582.1_Frame_Shift_Ins_p.P59fs Q6ZN01 MASTR_HUMAN MEF2 activating motif and SAP domain containing transcriptional regulator 162 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding endometrium(1)|ovary(1) 2 CCAACTTGTGTGGGGGGGGCGA 0.569 11 633 --- --- --- --- RP4-777D9.2 0 broad.mit.edu 37 20 21146805 21146805 + RNA DEL G G - TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr20:21146805delG ENST00000591761.1 - 0 5051 PLK1S1_ENST00000457464.1_RNA TTTTTTTTTTGTCCATGAGGC 0.383 7 78 --- --- --- --- GZF1 64412 broad.mit.edu 37 20 23345921 23345923 + In_Frame_Del DEL GAG GAG - TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr20:23345921_23345923delGAG ENST00000338121.5 + 2 978_980 c.901_903delGAG c.(901-903)del p.E306del GZF1_ENST00000461789.1_3'UTR|GZF1_ENST00000544236.1_Intron|GZF1_ENST00000542987.1_Intron|GZF1_ENST00000377051.2_In_Frame_Del_p.E306del 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 11 415 --- --- --- --- KCNB1 3745 broad.mit.edu 37 20 47989771 47989772 + Frame_Shift_Ins INS - - G TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr20:47989771_47989772insG ENST00000371741.4 - 2 2491_2492 c.2325_2326insC c.(2323-2328)ccaaagfs p.PK775fs NM_004975.2 NP_004966.1 Q14721 KCNB1_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 1 775 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1) 53 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) GGGAGGCTTTTGGGGGGGCTGG 0.545 8 2096 --- --- --- --- SALL4 57167 broad.mit.edu 37 20 50408346 50408348 + In_Frame_Del DEL GCT GCT - TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr20:50408346_50408348delGCT ENST00000217086.4 - 2 785_787 c.674_676delAGC c.(673-678)cta>c p.QL225del SALL4_ENST00000395997.3_In_Frame_Del_p.QL225del|SALL4_ENST00000371539.3_Intron NM_020436.3 NP_065169.1 Q9UJQ4 SALL4_HUMAN spalt-like transcription factor 4 225 transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 ATCTGCTGTAGCTGCTGCTGCTG 0.645 7 500 --- --- --- --- DIDO1 11083 broad.mit.edu 37 20 61537401 61537402 + Frame_Shift_Ins INS - - T rs140153728 TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr20:61537401_61537402insT ENST00000266070.4 - 6 1750_1751 c.1425_1426insA c.(1423-1428)aaagacfs p.D476fs DIDO1_ENST00000354665.4_Frame_Shift_Ins_p.D476fs|DIDO1_ENST00000395340.1_Frame_Shift_Ins_p.D476fs|DIDO1_ENST00000370368.1_Frame_Shift_Ins_p.D476fs|DIDO1_ENST00000370366.1_Frame_Shift_Ins_p.D476fs|DIDO1_ENST00000370371.4_Frame_Shift_Ins_p.D476fs|DIDO1_ENST00000266071.5_Frame_Shift_Ins_p.D476fs|DIDO1_ENST00000395343.1_Frame_Shift_Ins_p.D476fs|DIDO1_ENST00000395335.2_Frame_Shift_Ins_p.D476fs NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 476 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) ACTGTGGTCTCTTTTTTTTCTG 0.490 11 727 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11049306 11049307 + RNA INS - - T rs57143135 TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr21:11049306_11049307insT ENST00000470054.1 - 0 659 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ATATCCAGTAATTTTTTTAAGT 0.272 18 174 --- --- --- --- PRDM15 63977 broad.mit.edu 37 21 43221415 43221417 + In_Frame_Del DEL CTG CTG - TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr21:43221415_43221417delCTG ENST00000422911.1 - 25 3681_3683 c.3580_3582delCAG c.(3580-3582)del p.Q1194del PRDM15_ENST00000538201.1_In_Frame_Del_p.Q1157del|PRDM15_ENST00000269844.3_In_Frame_Del_p.Q1503del|PRDM15_ENST00000470586.1_5'UTR|PRDM15_ENST00000398548.1_In_Frame_Del_p.Q1174del|PRDM15_ENST00000447207.2_In_Frame_Del_p.Q1137del 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 8 560 --- --- --- --- PTTG1IP 754 broad.mit.edu 37 21 46276194 46276196 + In_Frame_Del DEL GCA GCA - TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr21:46276194_46276196delGCA ENST00000330938.3 - 4 581_583 c.361_363delTGC c.(361-363)del p.C121del PTTG1IP_ENST00000445724.2_Intron|PTTG1IP_ENST00000397887.3_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 9 397 --- --- --- --- SF3A1 10291 broad.mit.edu 37 22 30742328 30742330 + In_Frame_Del DEL CTG CTG - rs141985009 byFrequency TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr22:30742328_30742330delCTG ENST00000215793.7 - 3 518_520 c.364_366delCAG c.(364-366)del p.Q122del SF3A1_ENST00000439242.1_Intron NM_005877.4 NP_005868.1 Q15459 SF3A1_HUMAN splicing factor 3a, subunit 1, 120kDa 122 Poly-Gln. nuclear mRNA 3'-splice site recognition catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex protein binding|RNA binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1) 29 GCTGGGTGGTCTGCTGCTGCTGC 0.606 9 714 --- --- --- --- RANGAP1 5905 broad.mit.edu 37 22 41650469 41650471 + In_Frame_Del DEL TCC TCC - TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr22:41650469_41650471delTCC ENST00000455915.2 - 10 2570_2572 c.1101_1103delGGA c.(1099-1104)gaa>ga p.EE367del RANGAP1_ENST00000407260.4_In_Frame_Del_p.EE312del|RANGAP1_ENST00000356244.3_In_Frame_Del_p.EE367del|RANGAP1_ENST00000405486.1_In_Frame_Del_p.EE367del P46060 RAGP1_HUMAN Ran GTPase activating protein 1 367 Asp/Glu-rich (highly acidic). mitotic prometaphase|signal transduction condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole protein binding|Ran GTPase activator activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 ctcttctccttcctcctcctcct 0.562 17 617 --- --- --- --- ARFGAP3 26286 broad.mit.edu 37 22 43213780 43213780 + Frame_Shift_Del DEL T T - TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chr22:43213780delT ENST00000263245.5 - 10 1115 c.896delA c.(895-897)atfs p.N299fs ARFGAP3_ENST00000429508.2_Frame_Shift_Del_p.N227fs|ARFGAP3_ENST00000437119.2_Frame_Shift_Del_p.N255fs NM_001142293.1|NM_014570.4 NP_001135765.1|NP_055385.3 Q9NP61 ARFG3_HUMAN ADP-ribosylation factor GTPase activating protein 3 299 intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport cytosol|Golgi membrane ARF GTPase activator activity|protein transporter activity|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1) 11 TGAGTCAACATTTTTTTTGCC 0.363 8 797 --- --- --- --- OFD1 8481 broad.mit.edu 37 X 13764946 13764946 + Frame_Shift_Del DEL A A - TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chrX:13764946delA ENST00000380567.1 + 9 1154 c.282delA c.(280-282)gcfs p.A94fs OFD1_ENST00000398395.3_Frame_Shift_Del_p.A234fs|OFD1_ENST00000340096.6_Frame_Shift_Del_p.A234fs|OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000380550.3_Frame_Shift_Del_p.A234fs O75665 OFD1_HUMAN oral-facial-digital syndrome 1 234 LisH. cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle centriole|cilium|cytosol|microtubule basal body|nuclear membrane alpha-tubulin binding|gamma-tubulin binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 25 AAATGGAAGCAAAAAAAAAGT 0.299 8 293 --- --- --- --- TXLNG 55787 broad.mit.edu 37 X 16850849 16850850 + Frame_Shift_Del DEL AG AG - TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc 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 8 477 --- --- --- --- CNKSR2 22866 broad.mit.edu 37 X 21627678 21627680 + In_Frame_Del DEL GAG GAG - TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chrX:21627678_21627680delGAG ENST00000425654.2 + 19 3025_3027 c.2545_2547delGAG c.(2545-2547)del p.E856del CNKSR2_ENST00000279451.4_In_Frame_Del_p.E886del|CNKSR2_ENST00000379510.3_In_Frame_Del_p.E886del|CNKSR2_ENST00000543067.1_In_Frame_Del_p.E837del NM_001168647.1 NP_001162118.1 Q8WXI2 CNKR2_HUMAN connector enhancer of kinase suppressor of Ras 2 886 regulation of signal transduction cytoplasm|membrane protein binding breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3) 61 ggtggaggaagaggaggaggagg 0.517 8 288 --- --- --- --- PHF8 23133 broad.mit.edu 37 X 54011405 54011407 + In_Frame_Del DEL CTC CTC - TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chrX:54011405_54011407delCTC ENST00000338154.6 - 18 2887_2889 c.2383_2385delGAG c.(2383-2385)del p.E795del PHF8_ENST00000338946.6_In_Frame_Del_p.E694del|PHF8_ENST00000322659.8_In_Frame_Del_p.E778del|PHF8_ENST00000357988.5_In_Frame_Del_p.E831del NM_015107.2 NP_055922.1 Q9UPP1 PHF8_HUMAN PHD finger protein 8 831 Ser-rich. brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent nucleolus chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 40 GACTGGCGTTCTCCTCCTCCTCC 0.591 12 886 --- --- --- --- GNL3L 54552 broad.mit.edu 37 X 54578339 54578341 + In_Frame_Del DEL GAA GAA - TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chrX:54578339_54578341delGAA ENST00000336470.4 + 12 1252_1254 c.1113_1115delGAA c.(1111-1116)ggg>gg p.GK371del GNL3L_ENST00000360845.2_In_Frame_Del_p.GK371del NM_019067.5 NP_061940.1 Q9NVN8 GNL3L_HUMAN guanine nucleotide binding protein-like 3 (nucleolar)-like 371 ribosome biogenesis nucleolus GTP binding NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 30 ACCGTTTGGGGAAGAAGAAGAAG 0.557 7 471 --- --- --- --- CUL4B 8450 broad.mit.edu 37 X 119694117 119694119 + In_Frame_Del DEL GAG GAG - TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chrX:119694117_119694119delGAG ENST00000371322.5 - 1 436_438 c.375_377delCTC c.(373-378)tca>tc p.SS127del CUL4B_ENST00000336592.6_In_Frame_Del_p.SS132del|CUL4B_ENST00000404115.3_In_Frame_Del_p.SS145del NM_001079872.1 NP_001073341.1 Q13620 CUL4B_HUMAN cullin 4B 145 Ser-rich. cell cycle|DNA repair|ubiquitin-dependent protein catabolic process Cul4B-RING ubiquitin ligase complex|nucleus protein binding|ubiquitin protein ligase binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 TGGTGAAGATgaggaggaggagg 0.488 10 396 --- --- --- --- MAMLD1 10046 broad.mit.edu 37 X 149639325 149639327 + In_Frame_Del DEL CAG CAG - TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chrX:149639325_149639327delCAG ENST00000370401.2 + 4 1790_1792 c.1480_1482delCAG c.(1480-1482)del p.Q502del MAMLD1_ENST00000262858.5_In_Frame_Del_p.Q502del|MAMLD1_ENST00000432680.2_In_Frame_Del_p.Q477del|MAMLD1_ENST00000455522.2_5'UTR|MAMLD1_ENST00000426613.2_In_Frame_Del_p.Q477del Q13495 MAMD1_HUMAN mastermind-like domain containing 1 502 Poly-Gln. male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus p.Q469Q(1)|p.Q494Q(1)|p.Q421Q(1) breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2) 37 Acute lymphoblastic leukemia(192;6.56e-05) AAGCcagcaacagcagcagcagc 0.532 14 440 --- --- --- --- ZNF185 7739 broad.mit.edu 37 X 152087570 152087572 + In_Frame_Del DEL GAG GAG - TCGA-IB-7889-01A-11D-2154-08 TCGA-IB-7889-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01ca4fa5-629f-433d-ab6a-e0a8b2417ddc 273e3c23-c89d-4142-a9c3-59c5ec1224dc g.chrX:152087570_152087572delGAG ENST00000535861.1 + 7 523_525 c.475_477delGAG c.(475-477)del p.E165del ZNF185_ENST00000370268.4_In_Frame_Del_p.E165del|ZNF185_ENST00000318529.8_In_Frame_Del_p.E30del|ZNF185_ENST00000449285.2_In_Frame_Del_p.E165del|ZNF185_ENST00000370270.1_In_Frame_Del_p.E25del|ZNF185_ENST00000324823.6_In_Frame_Del_p.E30del|ZNF185_ENST00000539731.1_In_Frame_Del_p.E165del|ZNF185_ENST00000318504.7_In_Frame_Del_p.E165del NM_001178106.1 NP_001171577.1 O15231 ZN185_HUMAN zinc finger protein 185 (LIM domain) 165 Poly-Glu. cytoplasm|cytoskeleton|focal adhesion zinc ion binding NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3) 12 Acute lymphoblastic leukemia(192;6.56e-05) AGGGGACACCgaggaggaggagg 0.596 7 150 --- --- --- ---