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 IDS 3423 broad.mit.edu 37 X 148579704 148579704 + Silent SNP C C A TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chrX:148579704C>A ENST00000340855.6 - 5 851 c.642G>T c.(640-642)acG>acT p.T214T IDS_ENST00000370443.4_Silent_p.T214T|IDS_ENST00000490775.1_5'UTR|AF011889.5_ENST00000422081.1_RNA|IDS_ENST00000541269.1_Silent_p.T3T|IDS_ENST00000370441.4_Silent_p.T214T NM_000202.5|NM_001166550.1 NP_000193.1|NP_001160022.1 P22304 IDS_HUMAN iduronate 2-sulfatase 214 lysosome iduronate-2-sulfatase activity|metal ion binding NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1) 20 Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662) GACTGGCTGACGTTTTCATCT 0.532000 23 647 4.16121e-05 4.4034e-05 1 1 0 WHAMMP3 0 broad.mit.edu 37 15 23205094 23205094 + RNA SNP G G A TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr15:23205094G>A ENST00000400153.2 - 0 760 NR_003521.1 AGTACTGGAAGAACGTGGTTG 0.373000 5 75 0 0 1 0 0 APOL5 80831 broad.mit.edu 37 22 36124922 36124922 + Missense_Mutation SNP G G A TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr22:36124922G>A ENST00000249044.2 + 4 1279 c.1279G>A c.(1279-1281)Gcc>Acc p.A427T NM_030642.1 NP_085145.1 Q9BWW9 APOL5_HUMAN apolipoprotein L, 5 427 lipid metabolic process|lipid transport|lipoprotein metabolic process cytoplasm|extracellular region high-density lipoprotein particle binding|lipid binding|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1) 19 GGGGAGACAGGCCCCGGGAAG 0.612000 7 290 0 0 1 0 0 TIMM50 92609 broad.mit.edu 37 19 39980444 39980444 + Missense_Mutation SNP G G A TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr19:39980444G>A ENST00000314349.4 + 11 1488 c.1355G>A c.(1354-1356)cGc>cAc p.R452H TIMM50_ENST00000607714.1_Missense_Mutation_p.R349H|TIMM50_ENST00000599794.1_Missense_Mutation_p.R153H|TIMM50_ENST00000544017.1_Missense_Mutation_p.R236H NM_001001563.1 NP_001001563.1 Q3ZCQ8 TIM50_HUMAN translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae) 349 mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding|RNA binding p.R452H(1) NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1) 14 all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159) Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) TTGTGGCCTCGCTCCAAACAG 0.617000 3 43 0 0 1 0 0 KIAA1524 57650 broad.mit.edu 37 3 108270112 108270112 + Missense_Mutation SNP C C G TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr3:108270112C>G ENST00000295746.8 - 21 2678 c.2602G>C c.(2602-2604)Gag>Cag p.E868Q KIAA1524_ENST00000491772.1_Missense_Mutation_p.E709Q NM_020890.2 NP_065941.2 Q8TCG1 CIP2A_HUMAN KIAA1524 868 cytoplasm|integral to membrane protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 ACCAAGGACTCTTTCTCTTCC 0.418000 45 143 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126371342 126371342 + Missense_Mutation SNP C C G TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr4:126371342C>G ENST00000394329.3 + 9 9184 c.9171C>G c.(9169-9171)atC>atG p.I3057M FAT4_ENST00000335110.5_Missense_Mutation_p.I1355M NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 3057 Cadherin 29. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 ACTTTTTTATCACAGTCACTG 0.398000 8 397 0 0 1 0 0 MROH9 80133 broad.mit.edu 37 1 170967515 170967515 + Missense_Mutation SNP G G T TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr1:170967515G>T ENST00000367758.3 + 15 1795 c.1696G>T c.(1696-1698)Ggt>Tgt p.G566C MROH9_ENST00000367759.4_Intron NM_025063.2 NP_079339.2 maestro heat-like repeat family member 9 TCTGAATGTTGGTTCTTACCA 0.403000 45 281 3.43241e-23 3.87843e-23 1 1 0 OR9G1 390174 broad.mit.edu 37 11 56468064 56468064 + Silent SNP T T C TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr11:56468064T>C ENST00000312153.1 + 1 201 c.201T>C c.(199-201)ttT>ttC p.F67F NM_001005213.1 NP_001005213.1 olfactory receptor, family 9, subfamily G, member 1 breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1) 31 ATCTGTCGTTTCTGGATCTCT 0.463000 28 303 0 0 1 0 0 HOMER2 0 broad.mit.edu 37 15 83527855 83527855 + Missense_Mutation SNP C C A TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr15:83527855C>A ENST00000304231.8 - 5 645 c.453G>T c.(451-453)aaG>aaT p.K151N HOMER2_ENST00000450735.2_Missense_Mutation_p.K140N|HOMER2_ENST00000399166.2_Missense_Mutation_p.K140N|HOMER2_ENST00000426485.1_Missense_Mutation_p.K151N NM_199330.2 NP_955362.1 Q9NSB8 HOME2_HUMAN homer homolog 2 (Drosophila) 151 metabotropic glutamate receptor signaling pathway cell junction|cytoplasm|postsynaptic density|postsynaptic membrane cervix(1)|endometrium(2)|lung(6) 9 CGTGAGAGGCCTTTTCATCGT 0.498000 134 713 3.45176e-74 4.0609e-74 1 1 0 LRRK1 79705 broad.mit.edu 37 15 101529485 101529485 + Missense_Mutation SNP G G A TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr15:101529485G>A ENST00000284395.5 + 7 1035 c.635G>A c.(634-636)cGg>cAg p.R212Q LRRK1_ENST00000532029.2_Missense_Mutation_p.R215Q|LRRK1_ENST00000388948.3_Missense_Mutation_p.R215Q Q38SD2 LRRK1_HUMAN leucine-rich repeat kinase 1 215 small GTPase mediated signal transduction mitochondrion ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1) 72 Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) TTCCTGCTTCGGCATGGGGCC 0.483000 98 554 0 0 1 0 0 SLCO6A1 133482 broad.mit.edu 37 5 101748803 101748803 + Missense_Mutation SNP C C T TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr5:101748803C>T ENST00000506729.1 - 9 1688 c.1517G>A c.(1516-1518)tGt>tAt p.C506Y SLCO6A1_ENST00000379810.1_Missense_Mutation_p.C253Y|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.C506Y|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.C253Y|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.C444Y Q86UG4 SO6A1_HUMAN solute carrier organic anion transporter family, member 6A1 506 Kazal-like. integral to membrane|plasma membrane transporter activity p.C506S(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323) Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113) TGAGCATCTACATTTTTCATT 0.333000 32 159 0 0 1 0 0 PCDH10 57575 broad.mit.edu 37 4 134072871 134072871 + Missense_Mutation SNP T T G TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr4:134072871T>G ENST00000264360.4 + 1 2402 c.1576T>G c.(1576-1578)Tac>Gac p.Y526D NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 526 Cadherin 5. 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) CGGCTACTTGTACGCCCTGCG 0.597000 79 407 0 0 1 0 0 DAB2IP 153090 broad.mit.edu 37 9 124535711 124535711 + Missense_Mutation SNP G G T TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr9:124535711G>T ENST00000408936.3 + 12 3086 c.2904G>T c.(2902-2904)agG>agT p.R968S DAB2IP_ENST00000309989.1_Missense_Mutation_p.R844S|DAB2IP_ENST00000259371.2_Missense_Mutation_p.R940S Q5VWQ8 DAB2P_HUMAN DAB2 interacting protein 968 activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter cytoplasm|intrinsic to internal side of plasma membrane 14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 27 CCCGCCTGAGGCAGCAGTCCT 0.652000 10 60 0.00010058 0.000104771 1 1 0 CAPN12 147968 broad.mit.edu 37 19 39221822 39221822 + Missense_Mutation SNP G G A rs143345899 byFrequency TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr19:39221822G>A ENST00000328867.4 - 19 2307 c.1999C>T c.(1999-2001)Cgc>Tgc p.R667C ACTN4_ENST00000252699.2_3'UTR|CAPN12_ENST00000601953.1_Missense_Mutation_p.R518C NM_144691.3 NP_653292.2 Q6ZSI9 CAN12_HUMAN calpain 12 667 Domain IV. proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 20 all_cancers(60;2.87e-05)|Ovarian(47;0.0454) Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741) TCCCGGTAGCGGCTGGTGAGG 0.627000 4 162 0 0 1 0 0 GRSF1 2926 broad.mit.edu 37 4 71691088 71691088 + Missense_Mutation SNP T T C TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr4:71691088T>C ENST00000254799.6 - 8 1435 c.1318A>G c.(1318-1320)Act>Gct p.T440A GRSF1_ENST00000545193.1_Missense_Mutation_p.T322A|GRSF1_ENST00000508091.1_Intron|GRSF1_ENST00000502323.1_Missense_Mutation_p.T278A|GRSF1_ENST00000439371.1_Missense_Mutation_p.T278A NM_002092.3 NP_002083.3 Q12849 GRSF1_HUMAN G-rich RNA sequence binding factor 1 440 RRM 3. mRNA polyadenylation mRNA binding|nucleotide binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2) 17 all_hematologic(202;0.21) Lung(101;0.235) GCTTCTCCAGTGGCCTTCCCA 0.488000 23 108 0 0 1 0 0 EGR1 1958 broad.mit.edu 37 5 137803753 137803753 + Missense_Mutation SNP A A G TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr5:137803753A>G ENST00000239938.4 + 2 1887 c.1615A>G c.(1615-1617)Aca>Gca p.T539A NM_001964.2 NP_001955.1 P18146 EGR1_HUMAN early growth response 1 539 cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytoplasm|nucleus histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) TTCTCCCAGGACAATTGAAAT 0.502000 80 508 0 0 1 0 0 CSNK2A3 283106 broad.mit.edu 37 11 11373917 11373917 + Silent SNP C C G TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr11:11373917C>G ENST00000528848.2 - 1 987 c.750G>C c.(748-750)ggG>ggC p.G250G GALNT18_ENST00000227756.4_Intron NM_001256686.1 NP_001243615.1 casein kinase 2, alpha 3 polypeptide AATCTTCTGTCCCCAGAAACT 0.418000 44 524 0 0 1 0 0 KIAA1217 56243 broad.mit.edu 37 10 24762714 24762714 + Silent SNP C C A TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr10:24762714C>A ENST00000376451.2 + 2 818 c.558C>A c.(556-558)tcC>tcA p.S186S KIAA1217_ENST00000458595.1_Silent_p.S468S|KIAA1217_ENST00000396445.1_Silent_p.S186S|KIAA1217_ENST00000376452.3_Silent_p.S468S|KIAA1217_ENST00000376462.1_Silent_p.S388S|KIAA1217_ENST00000376454.3_Silent_p.S468S|KIAA1217_ENST00000430453.2_Silent_p.S389S|KIAA1217_ENST00000396446.1_Silent_p.S186S|KIAA1217_ENST00000307544.6_Silent_p.S186S Q5T5P2 SKT_HUMAN KIAA1217 468 embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 CACTGGGCTCCAAAACACCCC 0.507000 78 348 3.1711e-36 3.62411e-36 1 1 0 HMGN2P46 0 broad.mit.edu 37 15 45848224 45848224 + RNA SNP G G T TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr15:45848224G>T ENST00000409454.1 + 0 1219 TGCAGATTTTGTTTAGCTTTT 0.318000 26 108 2.91434e-09 3.15063e-09 1 1 0 MYOZ1 58529 broad.mit.edu 37 10 75399731 75399731 + Silent SNP G G A TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr10:75399731G>A ENST00000359322.4 - 2 409 c.45C>T c.(43-45)tcC>tcT p.S15S NM_021245.3 NP_067068.1 Q9NP98 MYOZ1_HUMAN myozenin 1 15 myofibril assembly nucleus|pseudopodium FATZ binding central_nervous_system(1)|large_intestine(5)|lung(2)|ovary(2)|skin(2) 12 Prostate(51;0.0112) TCAGCTTGCTGGATTTCCTCT 0.517000 74 339 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152284997 152284997 + Missense_Mutation SNP G G A TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr1:152284997G>A ENST00000368799.1 - 3 2400 c.2365C>T c.(2365-2367)Cgt>Tgt p.R789C FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 789 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GACCCTGAACGTCGAGACCTT 0.567000 Ichthyosis 40 1782 0 0 1 0 0 PCDH11X 27328 broad.mit.edu 37 X 91090988 91090988 + Missense_Mutation SNP C C T TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chrX:91090988C>T ENST00000373094.1 + 1 1330 c.485C>T c.(484-486)gCg>gTg p.A162V PCDH11X_ENST00000406881.1_Missense_Mutation_p.A162V|PCDH11X_ENST00000373097.1_Missense_Mutation_p.A162V|PCDH11X_ENST00000373088.1_Missense_Mutation_p.A162V|PCDH11X_ENST00000395337.2_Missense_Mutation_p.A162V|PCDH11X_ENST00000504220.1_Missense_Mutation_p.A162V|PCDH11X_ENST00000361724.1_Missense_Mutation_p.A162V|PCDH11X_ENST00000361655.2_Missense_Mutation_p.A162V|PCDH11X_ENST00000298274.8_Missense_Mutation_p.A162V NM_032968.3 NP_116750.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked 162 Cadherin 2. homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 ACTCTCCCAGCGGCTGTTGAT 0.343000 67 422 0 0 1 0 0 DMD 1756 broad.mit.edu 37 X 31198512 31198512 + Missense_Mutation SNP T T A TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chrX:31198512T>A ENST00000357033.4 - 69 10267 c.10061A>T c.(10060-10062)tAt>tTt p.Y3354F DMD_ENST00000343523.2_Missense_Mutation_p.Y894F|DMD_ENST00000361471.4_Missense_Mutation_p.Y286F|DMD_ENST00000541735.1_Missense_Mutation_p.Y894F|DMD_ENST00000378702.4_Missense_Mutation_p.Y286F|DMD_ENST00000378680.2_Missense_Mutation_p.Y286F|DMD_ENST00000378707.3_Missense_Mutation_p.Y894F|DMD_ENST00000378723.3_Missense_Mutation_p.Y286F|DMD_ENST00000378677.2_Missense_Mutation_p.Y3350F|DMD_ENST00000359836.1_Missense_Mutation_p.Y894F|DMD_ENST00000474231.1_Missense_Mutation_p.Y894F NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 3354 Interaction with SYNM (By similarity). muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) CACCATGGGATAGTGCATTTT 0.418000 16 409 0 0 1 0 0 COL5A3 50509 broad.mit.edu 37 19 10081324 10081324 + Missense_Mutation SNP C C T TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr19:10081324C>T ENST00000264828.3 - 54 3995 c.3910G>A c.(3910-3912)Ggc>Agc p.G1304S NM_015719.3 NP_056534.2 P25940 CO5A3_HUMAN collagen, type V, alpha 3 1304 Triple-helical region. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) ccgggggcgccgggcTCCCCA 0.607000 5 26 0 0 1 0 0 KCNA2 3737 broad.mit.edu 37 1 111147355 111147355 + Missense_Mutation SNP C C A TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr1:111147355C>A ENST00000485317.1 - 3 723 c.50G>T c.(49-51)gGg>gTg p.G17V KCNA2_ENST00000525120.1_Intron|KCNA2_ENST00000440270.1_Missense_Mutation_p.G17V|KCNA2_ENST00000369770.3_Missense_Mutation_p.G17V|KCNA2_ENST00000316361.4_Missense_Mutation_p.G17V P16389 KCNA2_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 2 17 juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 32 all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191) CTGTGGGTGCCCAGGGAGGGC 0.597000 149 764 2.2932e-79 2.71384e-79 1 1 0 NPAT 4863 broad.mit.edu 37 11 108032080 108032080 + Missense_Mutation SNP C C T TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr11:108032080C>T ENST00000278612.8 - 17 3838 c.3733G>A c.(3733-3735)Gaa>Aaa p.E1245K NM_002519.2 NP_002510.2 Q14207 NPAT_HUMAN nuclear protein, ataxia-telangiectasia locus 1245 Required for acceleration of G1 phase. positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle Cajal body protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5) 46 all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116) TGTAACATTTCTGTGGTAATC 0.433000 39 1394 0 0 1 0 0 FLNB 2317 broad.mit.edu 37 3 58134060 58134060 + Nonsense_Mutation SNP T T A TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr3:58134060T>A ENST00000357272.4 + 35 6021 c.5856T>A c.(5854-5856)tgT>tgA p.C1952* FLNB_ENST00000493452.1_Nonsense_Mutation_p.C1759*|FLNB_ENST00000419752.2_Nonsense_Mutation_p.C1772*|FLNB_ENST00000348383.5_Nonsense_Mutation_p.C1952*|FLNB_ENST00000429972.2_Nonsense_Mutation_p.C1941*|FLNB_ENST00000490882.1_Nonsense_Mutation_p.C1983*|FLNB_ENST00000358537.3_Nonsense_Mutation_p.C1928*|FLNB_ENST00000295956.4_Nonsense_Mutation_p.C1952* O75369 FLNB_HUMAN filamin B, beta 1952 Interaction with the cytoplasmic tail of GP1BA. actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5) 120 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) ACGAGCCCTGTCTCCTGAAGA 0.602000 11 122 0 0 1 0 0 FLNA 0 broad.mit.edu 37 X 153577233 153577233 + Missense_Mutation SNP C C T TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chrX:153577233C>T ENST00000422373.1 - 47 8152 c.7904G>A c.(7903-7905)cGc>cAc p.R2635H FLNA_ENST00000344736.4_Missense_Mutation_p.R2603H|FLNA_ENST00000369856.3_Missense_Mutation_p.R776H|FLNA_ENST00000369850.3_Missense_Mutation_p.R2643H|FLNA_ENST00000360319.4_Missense_Mutation_p.R2635H NM_001456.3 NP_001447.2 P21333 FLNA_HUMAN filamin A, alpha 2643 Self-association site, tail. actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CACCACAACGCGGTAGGGGCT 0.687000 12 384 0 0 1 0 0 PTGS1 5742 broad.mit.edu 37 9 125140773 125140773 + Silent SNP G G T TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr9:125140773G>T ENST00000362012.2 + 4 278 c.273G>T c.(271-273)ctG>ctT p.L91L PTGS1_ENST00000223423.4_Silent_p.L91L|PTGS1_ENST00000540753.1_Silent_p.L66L|PTGS1_ENST00000373698.5_5'UTR NM_000962.2|NM_001271164.1|NM_080591.1 NP_000953.2|NP_001258093.1|NP_542158.1 P23219 PGH1_HUMAN prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) 91 cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 8 Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500) CCCACTTCCTGCTCACTCACG 0.622000 117 580 2.51308e-46 2.90529e-46 1 1 0 ASB9 140462 broad.mit.edu 37 X 15266926 15266926 + Missense_Mutation SNP G G A TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chrX:15266926G>A ENST00000546332.1 - 7 1183 c.700C>T c.(700-702)Cgt>Tgt p.R234C ASB9_ENST00000473862.1_5'UTR|ASB9_ENST00000380483.3_Missense_Mutation_p.R224C|ASB9_ENST00000380488.4_Missense_Mutation_p.R234C|ASB9_ENST00000380485.3_Missense_Mutation_p.R234C NM_001168531.1 NP_001162003.1 Q96DX5 ASB9_HUMAN ankyrin repeat and SOCS box containing 9 234 intracellular signal transduction breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10) 15 Hepatocellular(33;0.183) TCCACAGGACGTTTGCCTTCA 0.557000 75 394 0 0 1 0 0 DAAM1 23002 broad.mit.edu 37 14 59789651 59789651 + Missense_Mutation SNP T T G TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr14:59789651T>G ENST00000395125.1 + 5 505 c.482T>G c.(481-483)aTc>aGc p.I161S DAAM1_ENST00000351081.1_Missense_Mutation_p.I161S|DAAM1_ENST00000360909.3_Missense_Mutation_p.I161S NM_014992.2 NP_055807.1 Q9Y4D1 DAAM1_HUMAN dishevelled associated activator of morphogenesis 1 161 GBD/FH3. actin cytoskeleton organization cytoplasm|plasma membrane actin binding|Rho GTPase binding breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(108;0.165) CTATCATGTATCCTCAACTTT 0.418000 99 503 0 0 1 0 0 PTPN13 0 broad.mit.edu 37 4 87684337 87684337 + Silent SNP A A T TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr4:87684337A>T ENST00000436978.1 + 24 4491 c.4011A>T c.(4009-4011)ccA>ccT p.P1337P PTPN13_ENST00000316707.6_Silent_p.P1146P|PTPN13_ENST00000411767.2_Silent_p.P1337P|PTPN13_ENST00000511467.1_Silent_p.P1337P|PTPN13_ENST00000427191.2_Silent_p.P1318P NM_080683.2|NM_080685.2 NP_542414.1|NP_542416.1 Q12923 PTN13_HUMAN protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) 1337 cytoplasm|cytoskeleton|plasma membrane protein binding|protein tyrosine phosphatase activity NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.00082) ATCAAACACCAAAACAGGCAT 0.363000 94 462 0 0 1 0 0 ZFYVE9 9372 broad.mit.edu 37 1 52740258 52740258 + Splice_Site SNP T T C TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr1:52740258T>C ENST00000287727.3 + 8 2918 c.e8+2 ZFYVE9_ENST00000357206.2_Splice_Site|ZFYVE9_ENST00000371591.1_Splice_Site NM_004799.2 NP_004790.2 O95405 ZFYV9_HUMAN zinc finger, FYVE domain containing 9 endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway early endosome membrane metal ion binding|protein binding|receptor activity|serine-type peptidase activity breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 53 TAAAAGGAGGTAAGTGGACTA 0.398000 83 400 0 0 1 0 0 LINC00969 0 broad.mit.edu 37 3 195400795 195400795 + RNA SNP C C T rs7615357 by1000genomes TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr3:195400795C>T ENST00000445430.1 + 0 1391 GGGGCAAACTCGCTGTTGGAC 0.592000 6 153 0 0 1 0 0 TERT 0 broad.mit.edu 37 5 1253880 1253880 + Missense_Mutation SNP G G T TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr5:1253880G>T ENST00000310581.5 - 16 3419 c.3362C>A c.(3361-3363)cCg>cAg p.P1121Q TERT_ENST00000296820.5_3'UTR|TERT_ENST00000334602.6_Missense_Mutation_p.P1058Q NM_001193376.1|NM_198253.2 NP_001180305.1|NP_937983.2 O14746 TERT_HUMAN telomerase reverse transcriptase 1121 CTE. anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase cytoplasm|nucleolus|PML body|telomerase holoenzyme complex protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 41 all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10) Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) GGGCAGTGCCGGGTTGGCTGC 0.662000 TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis 17 69 2.37509e-13 2.62441e-13 1 1 0 FLNB 2317 broad.mit.edu 37 3 58107201 58107201 + Missense_Mutation SNP G G A TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr3:58107201G>A ENST00000357272.4 + 20 3262 c.3097G>A c.(3097-3099)Gag>Aag p.E1033K FLNB_ENST00000493452.1_Missense_Mutation_p.E864K|FLNB_ENST00000419752.2_Missense_Mutation_p.E864K|FLNB_ENST00000348383.5_Missense_Mutation_p.E1033K|FLNB_ENST00000429972.2_Missense_Mutation_p.E1033K|FLNB_ENST00000490882.1_Missense_Mutation_p.E1033K|FLNB_ENST00000358537.3_Missense_Mutation_p.E1033K|FLNB_ENST00000295956.4_Missense_Mutation_p.E1033K O75369 FLNB_HUMAN filamin B, beta 1033 actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5) 120 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) CTACACAGTGGAGGCCTCGCT 0.567000 119 534 0 0 1 0 0 DLGAP2 9228 broad.mit.edu 37 8 1497384 1497384 + Silent SNP C C T TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr8:1497384C>T ENST00000421627.2 + 2 659 c.525C>T c.(523-525)aaC>aaT p.N175N NM_004745.3 NP_004736.2 Q9P1A6 DLGP2_HUMAN discs, large (Drosophila) homolog-associated protein 2 254 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding breast(1)|endometrium(6)|lung(31)|prostate(3) 41 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) GCAACGCCAACGGCACCAAGG 0.672000 18 53 0 0 1 0 0 CCSER2 54462 broad.mit.edu 37 10 86131917 86131917 + Missense_Mutation SNP A A T TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr10:86131917A>T ENST00000224756.8 + 2 1294 c.1109A>T c.(1108-1110)aAt>aTt p.N370I CCSER2_ENST00000372088.2_Missense_Mutation_p.N370I|CCSER2_ENST00000359979.4_Missense_Mutation_p.N370I NM_018999.2 NP_061872.2 coiled-coil serine-rich protein 2 CTGATTGAAAATGAAAGTTAT 0.378000 114 411 0 0 1 0 0 PRSS35 167681 broad.mit.edu 37 6 84233558 84233558 + Missense_Mutation SNP T T C TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr6:84233558T>C ENST00000536636.1 + 3 743 c.398T>C c.(397-399)aTc>aCc p.I133T PRSS35_ENST00000369700.3_Missense_Mutation_p.I133T NM_001170423.1 NP_001163894.1 Q8N3Z0 PRS35_HUMAN protease, serine, 35 133 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 32 all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0768) AGGTTCAGCATCTTGGACAAA 0.458000 105 421 0 0 1 0 0 ADAMTSL2 9719 broad.mit.edu 37 9 136402618 136402618 + Missense_Mutation SNP G G A TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr9:136402618G>A ENST00000393061.3 + 3 941 c.509G>A c.(508-510)cGc>cAc p.R170H ADAMTSL2_ENST00000393060.1_Missense_Mutation_p.R61H|ADAMTSL2_ENST00000354484.4_Missense_Mutation_p.R61H Q86TH1 ATL2_HUMAN ADAMTS-like 2 61 negative regulation of transforming growth factor beta receptor signaling pathway proteinaceous extracellular matrix metalloendopeptidase activity|protein binding|zinc ion binding kidney(2)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06) GCGTGTTCCCGCAGTTGCGGG 0.672000 51 244 0 0 1 0 0 AC096579.13 0 broad.mit.edu 37 2 89111197 89111197 + RNA SNP C C T TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr2:89111197C>T ENST00000452230.1 - 0 207 AGCATGGTGACGAAGGCGAAG 0.562000 27 89 0 0 1 0 0 ZNF733P 0 broad.mit.edu 37 7 62752443 62752443 + RNA SNP G G C TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr7:62752443G>C ENST00000331425.6 - 0 992 NR_003952.1 CTTATGTCTAGTAAGGTTTGA 0.438000 10 186 0 0 1 0 0 ITK 3702 broad.mit.edu 37 5 156608099 156608099 + Silent SNP C C T TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr5:156608099C>T ENST00000422843.3 + 1 263 c.111C>T c.(109-111)agC>agT p.S37S NM_005546.3 NP_005537.3 Q08881 ITK_HUMAN IL2-inducible T-cell kinase 37 PH. cellular defense response|intracellular signal transduction|T cell receptor signaling pathway cytosol|plasma membrane ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 70 Renal(175;0.00212) Medulloblastoma(196;0.0354)|all_neural(177;0.1) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CCAAAGCCAGCCTGGCATACT 0.398000 T SYK peripheral T-cell lymphoma 121 636 0 0 1 0 0 GLUD1P2 0 broad.mit.edu 37 10 48968566 48968566 + RNA SNP A A G TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr10:48968566A>G ENST00000594520.1 + 0 723 ACAGGATAACAAACTGGAAAA 0.318000 18 176 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578406 7578406 + Missense_Mutation SNP C C T rs28934578 TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr17:7578406C>T ENST00000420246.2 - 5 656 c.524G>A c.(523-525)cGc>cAc p.R175H TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000269305.4_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 175 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (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.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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) GTGGGGGCAGCGCCTCACAAC 0.652000 R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY) 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) 51 162 0 0 1 0 0 CXorf22 170063 broad.mit.edu 37 X 35989882 35989882 + Missense_Mutation SNP G G A TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chrX:35989882G>A ENST00000297866.5 + 12 2216 c.2150G>A c.(2149-2151)aGa>aAa p.R717K NM_152632.3 NP_689845.2 Q6ZTR5 CX022_HUMAN chromosome X open reading frame 22 717 breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3) 44 GAGTCTGTGAGAAGAAAGGCA 0.368000 70 331 0 0 1 0 0 FLT4 2324 broad.mit.edu 37 5 180057054 180057054 + Missense_Mutation SNP G G A TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr5:180057054G>A ENST00000261937.6 - 5 643 c.565C>T c.(565-567)Cgg>Tgg p.R189W FLT4_ENST00000502649.1_Missense_Mutation_p.R189W|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000393347.3_Missense_Mutation_p.R189W NM_182925.4 NP_891555.2 P35916 VGFR3_HUMAN fms-related tyrosine kinase 4 189 Ig-like C2-type 2. positive regulation of cell proliferation integral to plasma membrane ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.134) Sorafenib(DB00398)|Sunitinib(DB01268) AGCATGCCCCGCCGGTCATCC 0.647000 38 303 0 0 1 0 0 HEPH 9843 broad.mit.edu 37 X 65409671 65409671 + Silent SNP C C T TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chrX:65409671C>T ENST00000519389.1 + 6 1295 c.1116C>T c.(1114-1116)caC>caT p.H372H HEPH_ENST00000343002.2_Silent_p.H318H|HEPH_ENST00000374727.3_Silent_p.H321H|HEPH_ENST00000336279.5_Silent_p.H51H|HEPH_ENST00000419594.1_Silent_p.H321H|HEPH_ENST00000441993.2_Silent_p.H321H Q9BQS7 HEPH_HUMAN hephaestin 318 cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 CCCGTGGACACCACACTGATG 0.507000 45 189 0 0 1 0 0 ASB9 140462 broad.mit.edu 37 X 15266898 15266898 + Missense_Mutation SNP C C T TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chrX:15266898C>T ENST00000546332.1 - 7 1211 c.728G>A c.(727-729)aGc>aAc p.S243N ASB9_ENST00000473862.1_5'UTR|ASB9_ENST00000380483.3_Missense_Mutation_p.S233N|ASB9_ENST00000380488.4_Missense_Mutation_p.S243N|ASB9_ENST00000380485.3_Missense_Mutation_p.S243N NM_001168531.1 NP_001162003.1 Q96DX5 ASB9_HUMAN ankyrin repeat and SOCS box containing 9 243 SOCS box. intracellular signal transduction breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10) 15 Hepatocellular(33;0.183) GGCCAAGGGGCTCTCTGGAGG 0.557000 77 421 0 0 1 0 0 HCK 3055 broad.mit.edu 37 20 30662501 30662501 + Silent SNP C C T TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr20:30662501C>T ENST00000534862.1 + 6 708 c.345C>T c.(343-345)cgC>cgT p.R115R HCK_ENST00000375862.2_Silent_p.R134R|HCK_ENST00000375852.2_Silent_p.R135R|HCK_ENST00000518730.1_Silent_p.R113R|HCK_ENST00000538448.1_Silent_p.R114R|HCK_ENST00000520553.1_Silent_p.R114R NM_001172132.1 NP_001165603.1 P08631 HCK_HUMAN hemopoietic cell kinase 135 SH3. interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction caveola|cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4) 36 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) ATGTCGCCCGCGTTGACTCTC 0.552000 98 487 0 0 1 0 0 OR1K1 0 broad.mit.edu 37 9 125563309 125563309 + Missense_Mutation SNP G G A TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr9:125563309G>A ENST00000277309.2 + 1 940 c.908G>A c.(907-909)cGa>cAa p.R303Q NM_080859.1 NP_543135.1 Q8NGR3 OR1K1_HUMAN olfactory receptor, family 1, subfamily K, member 1 303 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1) 17 GGGGCACTCCGAGCCCTTCTC 0.582000 108 224 0 0 1 0 0 PPEF1 5475 broad.mit.edu 37 X 18845404 18845404 + Silent SNP C C T TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chrX:18845404C>T ENST00000361511.4 + 19 2255 c.1761C>T c.(1759-1761)tcC>tcT p.S587S PPEF1_ENST00000349874.5_Silent_p.S525S|PPEF1_ENST00000544635.1_Silent_p.S522S|PPEF1_ENST00000543630.1_3'UTR|PPEF1_ENST00000359763.6_Silent_p.S534S NM_006240.2|NM_152224.1 NP_006231.2|NP_689410.1 O14829 PPE1_HUMAN protein phosphatase, EF-hand calcium binding domain 1 587 EF-hand 2. detection of stimulus involved in sensory perception|protein dephosphorylation calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 43 Hepatocellular(33;0.183) GCCTGATCTCCGTGGAAGAAT 0.418000 108 439 0 0 1 0 0 BMP6 654 broad.mit.edu 37 6 7727541 7727541 + Missense_Mutation SNP A A T TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr6:7727541A>T ENST00000283147.6 + 1 512 c.353A>T c.(352-354)cAg>cTg p.Q118L NM_001718.4 NP_001709.1 P22004 BMP6_HUMAN bone morphogenetic protein 6 118 BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction extracellular space BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity p.Q118L(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1) 23 Ovarian(93;0.0721) cagcagcagcagcTGCCTCGC 0.731000 4 83 0 0 1 0 0 CCDC81 60494 broad.mit.edu 37 11 86131064 86131064 + Nonsense_Mutation SNP C C T TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr11:86131064C>T ENST00000278487.3 + 13 2070 c.991C>T c.(991-993)Cag>Tag p.Q331* CCDC81_ENST00000445632.2_Nonsense_Mutation_p.Q596*|CCDC81_ENST00000354755.1_Nonsense_Mutation_p.Q506*|CCDC81_ENST00000528728.1_Nonsense_Mutation_p.Q331* Q6ZN84 CCD81_HUMAN coiled-coil domain containing 81 596 kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 20 Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535) GATGAAGAAGCAGCGAGACCT 0.517000 63 271 0 0 1 0 0 ZEB1 6935 broad.mit.edu 37 10 31810814 31810814 + Missense_Mutation SNP C C T TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr10:31810814C>T ENST00000446923.2 + 7 2894 c.2503C>T c.(2503-2505)Cct>Tct p.P835S ZEB1_ENST00000320985.10_Missense_Mutation_p.P851S|ZEB1_ENST00000361642.5_Missense_Mutation_p.P852S|ZEB1_ENST00000560721.2_Missense_Mutation_p.P831S|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000542815.3_Missense_Mutation_p.P784S NM_001128128.2|NM_001174094.1 NP_001121600.1|NP_001167565.1 P37275 ZEB1_HUMAN zinc finger E-box binding homeobox 1 851 cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation cytoplasm E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4) 77 Prostate(175;0.0156) TACGGTCAGCCCTGCAGTCCA 0.463000 62 269 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128812 45128812 + RNA SNP C C T TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr17:45128812C>T ENST00000575173.1 - 0 418 AGTCCTGTTTCTGTGTGGATT 0.373000 7 189 0 0 1 0 0 E2F3 1871 broad.mit.edu 37 6 20490617 20490617 + Missense_Mutation SNP G G A TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr6:20490617G>A ENST00000346618.3 + 7 1420 c.1354G>A c.(1354-1356)Gat>Aat p.D452N E2F3_ENST00000535432.1_Missense_Mutation_p.D321N NM_001949.4 NP_001940.1 O00716 E2F3_HUMAN E2F transcription factor 3 452 Transactivation (Potential). G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter transcription factor complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3) 7 all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148) OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562) CGATGCTTACGATTTGGAAAA 0.468000 155 731 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76571032 76571032 + Silent SNP G G A TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr17:76571032G>A ENST00000389840.5 - 2 232 c.108C>T c.(106-108)aaC>aaT p.N36N DNAH17_ENST00000585328.1_Silent_p.N36N dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) ACAGGGCCACGTTCTCCTCGG 0.587000 10 137 0 0 1 0 0 LINC00969 0 broad.mit.edu 37 3 195410640 195410640 + RNA SNP T T C rs6583273 by1000genomes TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr3:195410640T>C ENST00000445430.1 + 0 1837 TTGATGAGTATGATCACTCCA 0.468000 3 24 0 0 1 0 0 SLC22A11 55867 broad.mit.edu 37 11 64329841 64329841 + Missense_Mutation SNP T T A TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr11:64329841T>A ENST00000301891.4 + 4 1129 c.755T>A c.(754-756)cTg>cAg p.L252Q SLC22A11_ENST00000377585.3_Missense_Mutation_p.L252Q|SLC22A11_ENST00000490834.1_3'UTR|SLC22A11_ENST00000377581.3_Missense_Mutation_p.L252Q NM_018484.2 NP_060954.1 Q9NSA0 S22AB_HUMAN solute carrier family 22 (organic anion/urate transporter), member 11 252 urate metabolic process apical plasma membrane|external side of plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 23 Probenecid(DB01032) GCCTTTGCCCTGCGGGACTGG 0.627000 11 660 0 0 1 0 0 ASB1 51665 broad.mit.edu 37 2 239342283 239342283 + Nonsense_Mutation SNP C C G rs140110697 TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr2:239342283C>G ENST00000264607.4 + 2 385 c.138C>G c.(136-138)taC>taG p.Y46* ASB1_ENST00000469885.1_3'UTR|ASB1_ENST00000409297.1_Nonsense_Mutation_p.Y46* NM_001040445.1 NP_001035535.1 Q9Y576 ASB1_HUMAN ankyrin repeat and SOCS box containing 1 46 intracellular signal transduction|negative regulation of cytokine biosynthetic process breast(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1) 8 all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644) ATGCAGCTTACGTCGGGGACC 0.597000 6 226 0 0 1 0 0 RP11-114H24.7 0 broad.mit.edu 37 15 78212618 78212618 + RNA SNP A A G TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr15:78212618A>G ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA TGTAACCGCCACTGGAGGACC 0.562000 8 341 0 0 1 0 0 FAT2 2196 broad.mit.edu 37 5 150923942 150923942 + Missense_Mutation SNP G G T TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr5:150923942G>T ENST00000261800.5 - 9 6758 c.6746C>A c.(6745-6747)gCt>gAt p.A2249D NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 2249 Cadherin 19. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TGACCCCAGAGCTGTATCCGT 0.473000 104 552 2.68927e-46 3.09112e-46 1 1 0 FMO1 2326 broad.mit.edu 37 1 171254564 171254564 + Nonsense_Mutation SNP C C T TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr1:171254564C>T ENST00000354841.4 + 8 1611 c.1480C>T c.(1480-1482)Cga>Tga p.R494* FMO1_ENST00000367750.3_Nonsense_Mutation_p.R494*|FMO1_ENST00000402921.2_Nonsense_Mutation_p.R431*|FMO1_ENST00000469112.1_3'UTR Q01740 FMO1_HUMAN flavin containing monooxygenase 1 494 NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2) 27 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) CCAGTGGGACCGAACATTCAA 0.478000 78 338 0 0 1 0 0 DNAJC13 23317 broad.mit.edu 37 3 132209833 132209833 + Missense_Mutation SNP G G T TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr3:132209833G>T ENST00000260818.6 + 32 3809 c.3561G>T c.(3559-3561)aaG>aaT p.K1187N NM_015268.3 NP_056083.3 O75165 DJC13_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 13 1187 heat shock protein binding breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1) 34 AACCTGAAAAGTTTTCTGAGA 0.323000 15 200 9.16793e-09 9.85799e-09 1 1 0 CACNG3 10368 broad.mit.edu 37 16 24372859 24372859 + Missense_Mutation SNP G G A TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr16:24372859G>A ENST00000005284.3 + 4 1825 c.623G>A c.(622-624)cGa>cAa p.R208Q NM_006539.3 NP_006530.1 O60359 CCG3_HUMAN calcium channel, voltage-dependent, gamma subunit 3 208 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2) 40 GBM - Glioblastoma multiforme(48;0.0809) CAGCAGTTACGAGCCAAATCC 0.488000 68 609 0 0 1 0 0 CXorf21 80231 broad.mit.edu 37 X 30578132 30578132 + Missense_Mutation SNP G G T TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chrX:30578132G>T ENST00000378962.3 - 3 663 c.341C>A c.(340-342)cCa>cAa p.P114Q NM_025159.2 NP_079435.1 Q9HAI6 CX021_HUMAN chromosome X open reading frame 21 114 kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1) 20 GCAAGAAGATGGAACCAAGTA 0.443000 155 713 1.56038e-73 1.825e-73 1 1 0 WHAMMP3 0 broad.mit.edu 37 15 23205098 23205098 + RNA SNP G G A rs146035894 by1000genomes TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr15:23205098G>A ENST00000400153.2 - 0 756 NR_003521.1 CTGGAAGAACGTGGTTGCCAC 0.373000 5 79 0 0 1 0 0 SCN1A 6323 broad.mit.edu 37 2 166848439 166848439 + Silent SNP G G A rs121918763 TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr2:166848439G>A ENST00000423058.2 - 26 5363 c.5346C>T c.(5344-5346)atC>atT p.I1782I AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000303395.4_Silent_p.I1782I|SCN1A_ENST00000375405.3_Silent_p.I1771I|SCN1A_ENST00000409050.1_Silent_p.I1754I NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 1782 I -> M (in SMEI; dbSNP:rs121918763). voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) GGATGACCGCGATGTACATGT 0.443000 190 914 0 0 1 0 0 FLNC 2318 broad.mit.edu 37 7 128478769 128478769 + Missense_Mutation SNP A A T TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr7:128478769A>T ENST00000325888.8 + 8 1584 c.1323A>T c.(1321-1323)agA>agT p.R441S FLNC_ENST00000346177.6_Missense_Mutation_p.R441S NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 441 cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 GCACATACAGACCTGCCATGG 0.637000 104 604 0 0 1 0 0 FANK1 92565 broad.mit.edu 37 10 127585212 127585212 + Translation_Start_Site SNP A A T rs145156460 by1000genomes TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr10:127585212A>T ENST00000368695.1 + 0 105 FANK1_ENST00000449042.2_De_novo_Start_InFrame|FANK1_ENST00000368693.1_Start_Codon_SNP_p.M1L NM_145235.3 NP_660278.3 Q8TC84 FANK1_HUMAN fibronectin type III and ankyrin repeat domains 1 cytoplasm|nucleus p.M1L(1) central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1) 21 all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936) GCAGCCGACCATGGAGCCCCA 0.761000 3 41 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25398285 25398285 + Missense_Mutation SNP C C G rs121913530 TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr12:25398285C>G ENST00000311936.3 - 2 225 c.34G>C c.(34-36)Ggt>Cgt p.G12R KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000256078.4_Missense_Mutation_p.G12R 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.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|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) CCTACGCCACCAGCTCCAACT 0.348000 G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 8 85 0 0 1 0 0 PDS5B 23047 broad.mit.edu 37 13 33253063 33253063 + Missense_Mutation SNP A A T TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr13:33253063A>T ENST00000315596.10 + 10 1240 c.1054A>T c.(1054-1056)Aca>Tca p.T352S NM_015032.3 NP_055847.1 Q9NTI5 PDS5B_HUMAN PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae) 352 cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation chromatin|nucleus ATP binding|DNA binding|identical protein binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 62 Lung SC(185;0.0367) all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204) AAAAGACTTAACAGGTACTAT 0.368000 36 185 0 0 1 0 0 KCNT1 57582 broad.mit.edu 37 9 138675926 138675926 + Silent SNP C C T TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr9:138675926C>T ENST00000298480.5 + 25 2972 c.2898C>T c.(2896-2898)gcC>gcT p.A966A KCNT1_ENST00000491806.2_Silent_p.A933A|KCNT1_ENST00000490355.2_Silent_p.A945A|KCNT1_ENST00000263604.3_Silent_p.A947A|KCNT1_ENST00000488444.2_Silent_p.A947A|KCNT1_ENST00000487664.1_Silent_p.A921A|KCNT1_ENST00000486577.2_Silent_p.A925A|KCNT1_ENST00000371757.2_Silent_p.A966A B7ZVY4 B7ZVY4_HUMAN potassium channel, subfamily T, member 1 966 membrane binding|calcium-activated potassium channel activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05) CGTTCGCCGCCGGCCGCGTCT 0.667000 38 341 0 0 1 0 0 HECW2 57520 broad.mit.edu 37 2 197208385 197208385 + Missense_Mutation SNP C C G TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr2:197208385C>G ENST00000260983.2 - 3 578 c.396G>C c.(394-396)atG>atC p.M132I HECW2_ENST00000409111.1_5'UTR NM_020760.1 NP_065811.1 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 132 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 113 ACTTACGTTCCATGAAATAGG 0.358000 79 1027 0 0 1 0 0 TCEAL5 340543 broad.mit.edu 37 X 102529240 102529240 + Silent SNP T T A TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chrX:102529240T>A ENST00000372680.1 - 3 546 c.252A>T c.(250-252)ccA>ccT p.P84P NM_001012979.2 NP_001012997.1 Q5H9L2 TCAL5_HUMAN transcription elongation factor A (SII)-like 5 84 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1) 11 CCTCACTTTGTGGCTTGTCCT 0.587000 143 707 0 0 1 0 0 SEMA6B 10501 broad.mit.edu 37 19 4555520 4555520 + Silent SNP G G A TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr19:4555520G>A ENST00000586582.1 - 7 838 c.528C>T c.(526-528)taC>taT p.Y176Y SEMA6B_ENST00000301293.3_Silent_p.Y176Y|SEMA6B_ENST00000586965.1_Silent_p.Y176Y NM_032108.3 NP_115484.2 Q9H3T3 SEM6B_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B 176 Sema. cell differentiation|nervous system development integral to membrane receptor activity breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18) GCTTGGGGTCGTACGGGCAGC 0.602000 39 177 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128792 45128792 + RNA SNP G G T rs143713325 by1000genomes TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr17:45128792G>T ENST00000575173.1 - 0 418 AATTCAGGTTGTCAGAATGCA 0.373000 11 222 1.08611e-07 1.16161e-07 1 1 0 HLA-DRB6 0 broad.mit.edu 37 6 32521666 32521666 + RNA SNP T T C rs117454723 by1000genomes TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr6:32521666T>C ENST00000411500.1 - 0 817 NR_001298.1 AACAGCCCTGTCCCAAGGAAG 0.507000 4 83 0 0 1 0 0 CCT8L2 150160 broad.mit.edu 37 22 17073061 17073061 + Missense_Mutation SNP A A T TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr22:17073061A>T ENST00000359963.3 - 1 639 c.380T>A c.(379-381)cTg>cAg p.L127Q NM_014406.4 NP_055221.1 Q96SF2 TCPQM_HUMAN chaperonin containing TCP1, subunit 8 (theta)-like 2 127 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1) 67 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) CGGGCGAGGCAGGCCAGCCTT 0.642000 39 160 0 0 1 0 0 TBC1D3P2 0 broad.mit.edu 37 17 60342197 60342197 + RNA SNP T T C rs76635225 TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr17:60342197T>C ENST00000581291.1 - 0 1956 breast(2)|kidney(1)|lung(2) 5 TGGGAGGGGCTGGGCATGGTT 0.488000 6 83 0 0 1 0 0 OR13F1 138805 broad.mit.edu 37 9 107267140 107267140 + Missense_Mutation SNP G G A TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr9:107267140G>A ENST00000334726.2 + 1 686 c.597G>A c.(595-597)atG>atA p.M199I NM_001004485.1 NP_001004485.1 Q8NGS4 O13F1_HUMAN olfactory receptor, family 13, subfamily F, member 1 199 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 31 AGTTAATCATGCTGGTGATCA 0.433000 80 1121 0 0 1 0 0 U2SURP 23350 broad.mit.edu 37 3 142741878 142741878 + Missense_Mutation SNP C C T TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr3:142741878C>T ENST00000397933.2 + 12 1301 c.19C>T c.(19-21)Cac>Tac p.H7Y U2SURP_ENST00000493598.2_Missense_Mutation_p.P400L|U2SURP_ENST00000473835.2_Missense_Mutation_p.P401L O15042 SR140_HUMAN U2 snRNP-associated SURP domain containing 0 RNA processing nucleus nucleotide binding|RNA binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 31 ATGTTACCGCCACCTAAAAAC 0.403000 7 58 0 0 1 0 0 MROH9 80133 broad.mit.edu 37 1 170967516 170967516 + Missense_Mutation SNP G G T TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr1:170967516G>T ENST00000367758.3 + 15 1796 c.1697G>T c.(1696-1698)gGt>gTt p.G566V MROH9_ENST00000367759.4_Intron NM_025063.2 NP_079339.2 maestro heat-like repeat family member 9 CTGAATGTTGGTTCTTACCAA 0.408000 43 282 6.2361e-21 6.96771e-21 1 1 0 LRP1B 53353 broad.mit.edu 37 2 141641448 141641448 + Missense_Mutation SNP T T A TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr2:141641448T>A ENST00000389484.3 - 25 5078 c.4107A>T c.(4105-4107)agA>agT p.R1369S NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 1369 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TTAGTGTAGTTCTTAGGGAGC 0.458000 TSP Lung(27;0.18) 113 546 0 0 1 0 0 CXADRP3 0 broad.mit.edu 37 18 14478229 14478229 + RNA SNP T T C rs9956181 by1000genomes TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr18:14478229T>C ENST00000581457.1 - 0 1679 NR_024076.1 CCCATTCGACTTAGATTAGGG 0.478000 5 198 0 0 1 0 0 FSTL4 23105 broad.mit.edu 37 5 132535363 132535363 + Silent SNP G G A TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr5:132535363G>A ENST00000265342.7 - 16 2202 c.1953C>T c.(1951-1953)caC>caT p.H651H CTB-49A3.2_ENST00000509051.1_RNA NM_015082.1 NP_055897.1 Q6MZW2 FSTL4_HUMAN follistatin-like 4 651 extracellular region calcium ion binding autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1) 23 all_cancers(142;0.244) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) AGCCGCCCAGGTGGGTGTGTG 0.622000 38 148 0 0 1 0 0 FAM86EP 0 broad.mit.edu 37 4 3944184 3944184 + RNA SNP C C T rs34583792 by1000genomes TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr4:3944184C>T ENST00000313946.8 - 0 2147 CTGCGGGAGTCGCAGCAGCTC 0.532000 5 164 0 0 1 0 0 PCDHA4 0 broad.mit.edu 37 5 140188280 140188280 + Missense_Mutation SNP C C T TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr5:140188280C>T ENST00000530339.1 + 1 1508 c.1508C>T c.(1507-1509)gCg>gTg p.A503V PCDHA4_ENST00000356878.4_Missense_Mutation_p.A503V|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.A503V|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron NM_018907.2 NP_061730.1 breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGGGAGCGCGCGCTGTCGAGC 0.662000 60 361 0 0 1 0 0 OR12D2 26529 broad.mit.edu 37 6 29365221 29365221 + Missense_Mutation SNP C C A TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr6:29365221C>A ENST00000383555.2 + 1 806 c.745C>A c.(745-747)Ctt>Att p.L249I OR5V1_ENST00000377154.1_Intron NM_013936.3 NP_039224.2 P58182 O12D2_HUMAN olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene) 249 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L249V(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 31 GGTAGTTATTCTTTTCTATGC 0.443000 157 757 3.63811e-69 4.23036e-69 1 1 0 AGBL1 123624 broad.mit.edu 37 15 86838550 86838550 + Missense_Mutation SNP T T C TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr15:86838550T>C ENST00000441037.2 + 16 2242 c.2147T>C c.(2146-2148)cTc>cCc p.L716P AGBL1_ENST00000421325.2_Missense_Mutation_p.L716P|AGBL1_ENST00000389298.3_Missense_Mutation_p.L447P NM_152336.2 NP_689549.2 Q96MI9 CBPC4_HUMAN ATP/GTP binding protein-like 1 716 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 62 CAAGATGTTCTCTGCCAGACG 0.483000 10 284 0 0 1 0 0 OR10A6 390093 broad.mit.edu 37 11 7949776 7949776 + Missense_Mutation SNP A A G TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr11:7949776A>G ENST00000309838.2 - 1 433 c.434T>C c.(433-435)aTt>aCt p.I145T NM_001004461.1 NP_001004461.1 Q8NH74 O10A6_HUMAN olfactory receptor, family 10, subfamily A, member 6 145 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 22 Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) TGAAAATATAATTAATTTCAT 0.338000 82 266 0 0 1 0 0 PCNXL2 80003 broad.mit.edu 37 1 233394271 233394271 + Missense_Mutation SNP G G C TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr1:233394271G>C ENST00000258229.8 - 5 1571 c.1337C>G c.(1336-1338)cCc>cGc p.P446R PCNXL2_ENST00000430153.1_5'UTR NM_014801.3 NP_055616.3 A6NKB5 PCX2_HUMAN pecanex-like 2 (Drosophila) 446 integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_cancers(173;0.0347)|Prostate(94;0.137) ATTGCCTTCGGGACAGGGAAC 0.572000 106 376 0 0 1 0 0 NTF3 4908 broad.mit.edu 37 12 5603961 5603961 + Missense_Mutation SNP G G A TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr12:5603961G>A ENST00000423158.3 + 2 832 c.620G>A c.(619-621)cGa>cAa p.R207Q NTF3_ENST00000535299.1_Intron|NTF3_ENST00000331010.6_Missense_Mutation_p.R194Q NM_001102654.1 NP_001096124.1 P20783 NTF3_HUMAN neurotrophin 3 194 signal transduction extracellular region growth factor activity|neurotrophin receptor binding p.R194P(1) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1) 22 TATGAAACGCGATGTAAGGAA 0.507000 47 250 0 0 1 0 0 RRN3P1 0 broad.mit.edu 37 16 21817457 21817457 + RNA SNP G G A rs150520281 by1000genomes TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr16:21817457G>A ENST00000546471.1 - 0 1601 CTTACATCCAGCTTGAGTAGT 0.259000 8 68 0 0 1 0 0 SPARC 6678 broad.mit.edu 37 5 151049237 151049237 + Missense_Mutation SNP C C T TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr5:151049237C>T ENST00000231061.4 - 6 752 c.439G>A c.(439-441)Ggg>Agg p.G147R NM_003118.3 NP_003109.1 P09486 SPRC_HUMAN secreted protein, acidic, cysteine-rich (osteonectin) 147 Kazal-like. ossification|platelet activation|platelet degranulation|signal transduction basement membrane|extracellular space|platelet alpha granule lumen calcium ion binding|collagen binding central_nervous_system(3)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1) 15 Medulloblastoma(196;0.109)|all_hematologic(541;0.122) Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) OV - Ovarian serous cystadenocarcinoma(192;0.00118) Becaplermin(DB00102) TTGCAAGGCCCGATGTAGTCC 0.572000 26 245 0 0 1 0 0 RAB39A 54734 broad.mit.edu 37 11 107832887 107832887 + Missense_Mutation SNP A A T TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr11:107832887A>T ENST00000320578.2 + 2 509 c.443A>T c.(442-444)gAc>gTc p.D148V NM_017516.1 NP_059986.1 Q14964 RB39A_HUMAN RAB39A, member RAS oncogene family 148 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding CTGTCAGCAGACTGTGGAATG 0.373000 87 408 0 0 1 0 0 ARHGEF37 389337 broad.mit.edu 37 5 149001460 149001460 + Silent SNP C C T TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr5:149001460C>T ENST00000333677.6 + 9 1333 c.1170C>T c.(1168-1170)gcC>gcT p.A390A NM_001001669.2 NP_001001669.2 A1IGU5 ARH37_HUMAN Rho guanine nucleotide exchange factor (GEF) 37 390 BAR. regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3) 17 AGGAGGAGGCCGCCCGGCACA 0.577000 36 411 0 0 1 0 0 PCDHA7 0 broad.mit.edu 37 5 140215334 140215334 + Missense_Mutation SNP G G A TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr5:140215334G>A ENST00000525929.1 + 1 1366 c.1366G>A c.(1366-1368)Gcg>Acg p.A456T PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.A456T|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron NM_018910.2 NP_061733.1 NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCCGGCGTTCGCGCAGCCCGA 0.677000 84 483 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96521777 96521777 + Missense_Mutation SNP T T C rs77768218 TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr2:96521777T>C ENST00000456556.1 - 63 4316 c.4232A>G c.(4231-4233)cAt>cGt p.H1411R ANKRD36C_ENST00000419039.2_Missense_Mutation_p.H438R|ANKRD36C_ENST00000420871.2_Missense_Mutation_p.H662R ankyrin repeat domain 36C p.H662R(6)|p.H1411R(3) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 AAGGTCTTCATGCTTTCTTTT 0.383000 8 142 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414340 20414340 + Silent SNP G G A TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr9:20414340G>A ENST00000380338.4 - 5 790 c.504C>T c.(502-504)agC>agT p.S168S MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 168 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S168S(5) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctgctactgctgc 0.537000 T MLL ALL 14 371 0 0 1 0 0 MRPL45P2 0 broad.mit.edu 37 17 45567651 45567651 + RNA SNP A A T TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr17:45567651A>T ENST00000575291.1 - 0 265 CATAGGCATCAAATATACCAG 0.343000 7 154 0 0 1 0 0 VPS13D 55187 broad.mit.edu 37 1 12316444 12316444 + Missense_Mutation SNP G G C TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr1:12316444G>C ENST00000358136.3 + 8 854 c.724G>C c.(724-726)Gtg>Ctg p.V242L VPS13D_ENST00000356315.4_Missense_Mutation_p.V242L NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 242 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) CCTGGAGCCTGTGTTTGCATC 0.542000 294 669 0 0 1 0 0 SPTBN4 57731 broad.mit.edu 37 19 41009810 41009810 + Missense_Mutation SNP C C T TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr19:41009810C>T ENST00000352632.3 + 12 1522 c.1436C>T c.(1435-1437)gCg>gTg p.A479V SPTBN4_ENST00000344104.3_Missense_Mutation_p.A479V|SPTBN4_ENST00000338932.3_Missense_Mutation_p.A479V|SPTBN4_ENST00000598249.1_Missense_Mutation_p.A479V|SPTBN4_ENST00000595535.1_Missense_Mutation_p.A479V Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 479 actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport cytosol|nuclear matrix|PML body|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 73 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) GCAGACATTGCGGCCTACGAG 0.637000 5 173 0 0 1 0 0 NOBOX 135935 broad.mit.edu 37 7 144097345 144097345 + Missense_Mutation SNP C C T TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr7:144097345C>T ENST00000467773.1 - 5 904 c.905G>A c.(904-906)cGc>cAc p.R302H NOBOX_ENST00000483238.1_Missense_Mutation_p.R302H|NOBOX_ENST00000223140.5_Missense_Mutation_p.R217H NM_001080413.3 NP_001073882.3 O60393 NOBOX_HUMAN NOBOX oogenesis homeobox 302 cell differentiation|oogenesis nucleus sequence-specific DNA binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1) 26 Melanoma(164;0.14) AATCTCTCGGCGTTTATCACT 0.557000 68 288 0 0 1 0 0 ALG9 79796 broad.mit.edu 37 11 111749420 111749420 + Silent SNP G G A TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr11:111749420G>A ENST00000524880.1 - 2 481 c.189C>T c.(187-189)ttC>ttT p.F63F FDXACB1_ENST00000260257.4_Silent_p.F63F|FDXACB1_ENST00000542429.1_Intron Q9H6U8 ALG9_HUMAN ALG9, alpha-1,2-mannosyltransferase 0 dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|intrinsic to endoplasmic reticulum membrane alpha-1,2-mannosyltransferase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587) AGTCCACACCGAAACGTACAT 0.458000 OREG0021330 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 73 0 0 1 0 0 ERO1L 30001 broad.mit.edu 37 14 53110325 53110325 + Nonsense_Mutation SNP A A T TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr14:53110325A>T ENST00000395686.3 - 16 1593 c.1370T>A c.(1369-1371)tTa>tAa p.L457* NM_014584.1 NP_055399.1 Q96HE7 ERO1A_HUMAN ERO1-like (S. cerevisiae) 457 chaperone mediated protein folding requiring cofactor|electron transport chain|protein thiol-disulfide exchange|response to temperature stimulus|transport endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome disulfide oxidoreductase activity|flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor ERO1L/FERMT2(2) breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1) 12 Breast(41;0.226) GAAGTTTTCTAATTCTTTCAC 0.303000 4 43 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34068023 34068023 + Missense_Mutation SNP C C T TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr1:34068023C>T ENST00000373381.4 - 43 6832 c.6656G>A c.(6655-6657)cGc>cAc p.R2219H CSMD2_ENST00000373377.1_Missense_Mutation_p.R318H|CSMD2_ENST00000373380.1_Missense_Mutation_p.R1092H|CSMD2_ENST00000373388.2_Missense_Mutation_p.R318H|CSMD2_ENST00000489419.1_5'UTR NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 2221 CUB 13. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) GAGGTTGAGGCGGACGCCATG 0.577000 39 177 0 0 1 0 0 ASPM 259266 broad.mit.edu 37 1 197071382 197071382 + Silent SNP C C T TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr1:197071382C>T ENST00000367409.4 - 18 7255 c.6999G>A c.(6997-6999)gaG>gaA p.E2333E ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron NM_018136.4 NP_060606.3 Q8IZT6 ASPM_HUMAN asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 2333 IQ 22. mitosis cytoplasm|nucleus calmodulin binding breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3) 165 CCCTGTGCATCTCTCGCATCC 0.408000 116 561 0 0 1 0 0 LINC00969 0 broad.mit.edu 37 3 195410627 195410627 + RNA SNP A A G rs6583272 by1000genomes TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr3:195410627A>G ENST00000445430.1 + 0 1824 CCTCAGGTGCAGATTGATGAG 0.473000 4 25 0 0 1 0 0 FOXO3 2309 broad.mit.edu 37 6 108985160 108985160 + Missense_Mutation SNP C C G TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr6:108985160C>G ENST00000406360.1 + 2 1467 c.1124C>G c.(1123-1125)aCc>aGc p.T375S FOXO3_ENST00000343882.6_Missense_Mutation_p.T375S|FOXO3_ENST00000540898.1_Missense_Mutation_p.T155S NM_001455.3 NP_001446.1 O43524 FOXO3_HUMAN forkhead box O3 375 antral ovarian follicle growth|apoptosis|embryo development|glucose homeostasis|induction of apoptosis|initiation of primordial ovarian follicle growth|insulin receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|oocyte maturation|ovulation from ovarian follicle|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|tissue development cytosol|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase 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 factor binding central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 26 all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152) Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718) ATGGCAGGCACCATGAATCTG 0.582000 6 227 0 0 1 0 0 A4GNT 51146 broad.mit.edu 37 3 137849964 137849964 + Silent SNP G G C TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr3:137849964G>C ENST00000236709.3 - 2 336 c.135C>G c.(133-135)ctC>ctG p.L45L NM_016161.2 NP_057245.1 Q9UNA3 A4GCT_HUMAN alpha-1,4-N-acetylglucosaminyltransferase 45 protein O-linked glycosylation Golgi membrane|Golgi stack|integral to membrane|membrane fraction acetylglucosaminyltransferase activity|galactosyltransferase activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7) 16 TGTGGCTCAGGAGGGCTTCCA 0.537000 68 345 0 0 1 0 0 SVEP1 79987 broad.mit.edu 37 9 113169147 113169147 + Missense_Mutation SNP C C G TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr9:113169147C>G ENST00000401783.2 - 38 9069 c.8733G>C c.(8731-8733)aaG>aaC p.K2911N SVEP1_ENST00000297826.5_Missense_Mutation_p.K837N|SVEP1_ENST00000374469.1_Missense_Mutation_p.K2888N NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 2911 Sushi 25. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 ATGTTACTTCCTTCATGAAGC 0.552000 92 652 0 0 1 0 0 IGSF1 3547 broad.mit.edu 37 X 130409231 130409231 + Missense_Mutation SNP G G C TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chrX:130409231G>C ENST00000370904.1 - 23 4097 c.3187C>G c.(3187-3189)Cag>Gag p.Q1063E IGSF1_ENST00000361420.3_Missense_Mutation_p.Q1072E|IGSF1_ENST00000370903.3_Missense_Mutation_p.Q1077E|IGSF1_ENST00000370910.1_Missense_Mutation_p.Q1063E Q8N6C5 IGSF1_HUMAN immunoglobulin superfamily, member 1 1072 regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding p.Q1072*(1) breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2) 78 GGACCAGGCTGGGCTAATAGG 0.542000 162 945 0 0 1 0 0 AK7 122481 broad.mit.edu 37 14 96864443 96864443 + Missense_Mutation SNP T T G TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr14:96864443T>G ENST00000267584.4 + 2 181 c.137T>G c.(136-138)cTt>cGt p.L46R AK7_ENST00000555570.1_Missense_Mutation_p.L46R NM_152327.3 NP_689540.2 Q96M32 KAD7_HUMAN adenylate kinase 7 46 cell projection organization cytosol adenylate kinase activity|ATP binding|cytidylate kinase activity breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 31 all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155) Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228) GGGGCTTCGCTTGAAGAAATT 0.418000 78 485 0 0 1 0 0 TAS2R42 353164 broad.mit.edu 37 12 11338898 11338898 + Missense_Mutation SNP G G A TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr12:11338898G>A ENST00000334266.1 - 1 645 c.646C>T c.(646-648)Ctc>Ttc p.L216F NM_181429.1 NP_852094.1 Q7RTR8 T2R42_HUMAN taste receptor, type 2, member 42 216 sensory perception of taste integral to membrane G-protein coupled receptor activity breast(1)|kidney(2)|lung(4)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(49;0.0455) AAGGAACTGAGCTTCAAATTT 0.418000 82 383 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195517059 195517059 + Silent SNP C C A TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr3:195517059C>A ENST00000463781.3 - 2 1851 c.1392G>T c.(1390-1392)cgG>cgT p.R464R MUC4_ENST00000475231.1_Silent_p.R464R|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 469 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) TCTCATGAGGCCGTCCTGTGG 0.493000 15 755 0.000219431 0.000226218 1 1 0 ZNF521 25925 broad.mit.edu 37 18 22805592 22805592 + Missense_Mutation SNP C C T TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr18:22805592C>T ENST00000361524.3 - 4 2438 c.2290G>A c.(2290-2292)Gaa>Aaa p.E764K ZNF521_ENST00000584787.1_Missense_Mutation_p.E544K|ZNF521_ENST00000538137.2_Missense_Mutation_p.E764K NM_015461.2 NP_056276.1 Q96K83 ZN521_HUMAN zinc finger protein 521 764 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 149 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) AAGTCAGTTTCGTTGCGGAAG 0.473000 T PAX5 ALL 28 260 0 0 1 0 0 GALR1 2587 broad.mit.edu 37 18 74962928 74962928 + Missense_Mutation SNP C C T TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr18:74962928C>T ENST00000299727.3 + 1 424 c.424C>T c.(424-426)Cgc>Tgc p.R142C NM_001480.3 NP_001471.2 P47211 GALR1_HUMAN galanin receptor 1 142 digestion|negative regulation of adenylate cyclase activity integral to membrane|plasma membrane galanin receptor activity breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211) OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104) GCACTCGCGGCGCTCCTCCTC 0.657000 54 210 0 0 1 0 0 CECR2 27443 broad.mit.edu 37 22 18003349 18003349 + Missense_Mutation SNP G G A TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr22:18003349G>A ENST00000262608.8 + 8 1037 c.1037G>A c.(1036-1038)cGt>cAt p.R346H CECR2_ENST00000342247.5_Missense_Mutation_p.R317H|CECR2_ENST00000400573.4_Intron|CECR2_ENST00000400585.2_Intron NM_031413.3 NP_113601.2 Q9BXF3 CECR2_HUMAN cat eye syndrome chromosome region, candidate 2 387 chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 59 all_epithelial(15;0.139) Lung(27;0.146) TCGACCAGCCGTCCTGTAGCC 0.448000 6 42 0 0 1 0 0 GPR83 10888 broad.mit.edu 37 11 94134167 94134167 + Missense_Mutation SNP C C A TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr11:94134167C>A ENST00000243673.2 - 1 418 c.247G>T c.(247-249)Gtc>Ttc p.V83F GPR83_ENST00000539203.2_Missense_Mutation_p.V83F NM_016540.3 NP_057624.3 Q9NYM4 GPR83_HUMAN G protein-coupled receptor 83 83 integral to membrane|plasma membrane neuropeptide Y receptor activity NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1) 19 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) AGTGAGAAGACAATGATGAAG 0.557000 38 135 4.62619e-21 5.19797e-21 1 1 0 PDS5B 23047 broad.mit.edu 37 13 33332728 33332728 + Silent SNP A A G TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr13:33332728A>G ENST00000315596.10 + 28 3432 c.3246A>G c.(3244-3246)acA>acG p.T1082T NM_015032.3 NP_055847.1 Q9NTI5 PDS5B_HUMAN PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae) 1082 cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation chromatin|nucleus ATP binding|DNA binding|identical protein binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 62 Lung SC(185;0.0367) all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204) AGAGTACTACATACAGTTTGG 0.358000 122 573 0 0 1 0 0 PRDM12 59335 broad.mit.edu 37 9 133540159 133540159 + Missense_Mutation SNP G G A TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr9:133540159G>A ENST00000253008.2 + 1 179 c.119G>A c.(118-120)cGc>cAc p.R40H NM_021619.2 NP_067632.2 Q9H4Q4 PRD12_HUMAN PR domain containing 12 40 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 11 all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534) OV - Ovarian serous cystadenocarcinoma(145;0.000344) CTGTACGGCCGCTGGCGCAAC 0.677000 3 62 0 0 1 0 0 NCOA3 8202 broad.mit.edu 37 20 46279860 46279860 + Silent SNP G G A rs151060280 byFrequency TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr20:46279860G>A ENST00000372004.3 + 20 3990 c.3774G>A c.(3772-3774)caG>caA p.Q1258Q NCOA3_ENST00000341724.6_Silent_p.Q1188Q|NCOA3_ENST00000371997.3_Silent_p.Q1253Q|NCOA3_ENST00000371998.3_Silent_p.Q1262Q NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2 NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1 Q9Y6Q9 NCOA3_HUMAN nuclear receptor coactivator 3 1262 Acetyltransferase.|Poly-Gln. androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleoplasm androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding p.Q1262Q(1) breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 agcagcagcagcagcaacagc 0.567000 8 315 0 0 1 0 0 PXDNL 137902 broad.mit.edu 37 8 52384855 52384855 + Missense_Mutation SNP C C T TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr8:52384855C>T ENST00000356297.4 - 8 804 c.704G>A c.(703-705)cGa>cAa p.R235Q PXDNL_ENST00000543296.1_Missense_Mutation_p.R235Q NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 235 Ig-like C2-type 1. hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) AAAAGTAATTCGGGGGCTCTC 0.413000 17 365 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76459132 76459132 + Missense_Mutation SNP A A G TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr17:76459132A>G ENST00000389840.5 - 57 9050 c.8926T>C c.(8926-8928)Ttc>Ctc p.F2976L DNAH17_ENST00000585328.1_Missense_Mutation_p.F2985L|DNAH17_ENST00000586052.1_5'UTR dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) TAGGACATGAAGAAGCTGATG 0.542000 46 133 0 0 1 0 0 TRIM16 10626 broad.mit.edu 37 17 15532400 15532400 + Missense_Mutation SNP G G A rs148258149 byFrequency TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr17:15532400G>A ENST00000579219.1 - 3 560 c.314C>T c.(313-315)tCc>tTc p.S105F TRIM16_ENST00000336708.7_Silent_p.L408L|TRIM16_ENST00000578237.1_Silent_p.L408L|RP11-385D13.1_ENST00000455584.2_Silent_p.L408L|TRIM16_ENST00000577886.1_Silent_p.L192L|TRIM16_ENST00000416464.2_Silent_p.L278L tripartite motif containing 16 breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1) 19 UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559) ACCTGCTGGGGAGGTCCGGGT 0.602000 5 151 0 0 1 0 0 DDX31 64794 broad.mit.edu 37 9 135487492 135487492 + Missense_Mutation SNP C C G TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr9:135487492C>G ENST00000372159.3 - 19 2442 c.2291G>C c.(2290-2292)aGg>aCg p.R764T DDX31_ENST00000438527.3_Missense_Mutation_p.R635T|DDX31_ENST00000372153.1_Missense_Mutation_p.R691T NM_022779.7 NP_073616.6 Q9H8H2 DDX31_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 31 764 nucleolus ATP binding|ATP-dependent helicase activity|RNA binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05) GTGTGCTTTCCTCTTCTTTCT 0.532000 126 611 0 0 1 0 0 PC 5091 broad.mit.edu 37 11 66638642 66638642 + Missense_Mutation SNP C C T TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr11:66638642C>T ENST00000393960.1 - 7 795 c.514G>A c.(514-516)Gcc>Acc p.A172T PC_ENST00000393955.2_Missense_Mutation_p.A172T|PC_ENST00000355677.3_Missense_Mutation_p.A172T|PC_ENST00000393958.2_Missense_Mutation_p.A172T|PC_ENST00000524491.1_Missense_Mutation_p.A132T NM_001040716.1 NP_001035806.1 P11498 PYC_HUMAN pyruvate carboxylase 172 ATP-grasp.|Biotin carboxylation. gluconeogenesis|lipid biosynthetic process mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Melanoma(852;0.0525) Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227) Biotin(DB00121)|Pyruvic acid(DB00119) GTGATGGGGGCATCTGTGCCA 0.622000 48 269 0 0 1 0 0 PARK2 5071 broad.mit.edu 37 6 162864492 162864492 + Missense_Mutation SNP G G T TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr6:162864492G>T ENST00000366898.1 - 2 123 c.21C>A c.(19-21)ttC>ttA p.F7L PARK2_ENST00000366892.1_Missense_Mutation_p.F7L|PARK2_ENST00000338468.3_5'UTR|PARK2_ENST00000366894.1_5'UTR|PARK2_ENST00000366896.1_Missense_Mutation_p.F7L|PARK2_ENST00000366897.1_Missense_Mutation_p.F7L NM_004562.2 NP_004553.2 O60260 PRKN2_HUMAN parkin RBR E3 ubiquitin protein ligase 7 Ubiquitin-like. aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 39 all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102) UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046) GGCTGGAGTTGAACCTGACAA 0.498000 19 294 1.00905e-13 1.12116e-13 1 1 0 MTM1 4534 broad.mit.edu 37 X 149826497 149826497 + Silent SNP A A C TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chrX:149826497A>C ENST00000370396.2 + 11 1311 c.1257A>C c.(1255-1257)gcA>gcC p.A419A MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000543350.1_Silent_p.A304A|MTM1_ENST00000413012.2_Silent_p.A382A|MTM1_ENST00000542741.1_Silent_p.A324A NM_000252.2 NP_000243.1 Q13496 MTM1_HUMAN myotubularin 1 419 Myotubularin phosphatase. endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization filopodium|late endosome|plasma membrane|ruffle intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Acute lymphoblastic leukemia(192;6.56e-05) ATAAATTTGCATCTGTGAGTA 0.318000 50 270 0 0 1 0 0 CACNA1A 773 broad.mit.edu 37 19 13409765 13409765 + Missense_Mutation SNP C C A TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr19:13409765C>A ENST00000360228.5 - 19 2681 c.2682G>T c.(2680-2682)gaG>gaT p.E894D CACNA1A_ENST00000573710.2_Missense_Mutation_p.E895D NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2 NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2 O00555 CAC1A_HUMAN calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 895 cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) CGTAGGGTCCCTCCCGGCTCA 0.771000 13 47 4.36969e-10 4.77562e-10 1 1 0 GDF11 0 broad.mit.edu 37 12 56142711 56142711 + Missense_Mutation SNP G G C TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr12:56142711G>C ENST00000257868.5 + 2 824 c.787G>C c.(787-789)Gat>Cat p.D263H NM_005811.3 NP_005802.1 O95390 GDF11_HUMAN growth differentiation factor 11 263 growth|mesoderm development|skeletal system development extracellular space cytokine activity|growth factor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|urinary_tract(1) 12 CAACGCCTTTGATCCCAGTGG 0.622000 20 55 0 0 1 0 0 B4GALT2 8704 broad.mit.edu 37 1 44447007 44447009 + In_Frame_Del DEL AGC AGC - rs72406230 TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr1:44447007_44447009delAGC ENST00000356836.6 + 2 965_967 c.175_177delAGC c.(175-177)del p.S65del B4GALT2_ENST00000372324.1_In_Frame_Del_p.S65del|B4GALT2_ENST00000309519.7_In_Frame_Del_p.S94del|B4GALT2_ENST00000434555.2_In_Frame_Del_p.LA7del NM_001005417.2|NM_030587.2 NP_001005417.1|NP_085076.2 O60909 B4GT2_HUMAN UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2 65 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 17 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) N-Acetyl-D-glucosamine(DB00141) CCCAGCTGCTagcagcagcagca 0.685 7 340 --- --- --- --- ALS2CR11 151254 broad.mit.edu 37 2 202352352 202352352 + Frame_Shift_Del DEL T T - TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr2:202352352delT ENST00000439140.1 - 16 5490 c.5446delA c.(5446-5448)ttfs p.I1816fs ALS2CR11_ENST00000286195.3_Frame_Shift_Del_p.I619fs|ALS2CR11_ENST00000439802.1_3'UTR NM_001168221.1 NP_001161693.1 Q53TS8 AL2SA_HUMAN amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11 619 NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3) 33 CCTCTTTTAATTTTTTTTGGC 0.323 8 581 --- --- --- --- TNS1 7145 broad.mit.edu 37 2 218712887 218712889 + In_Frame_Del DEL GCT GCT - TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 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 13 160 --- --- --- --- SLC4A3 6508 broad.mit.edu 37 2 220496799 220496801 + In_Frame_Del DEL GAA GAA - TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr2:220496799_220496801delGAA ENST00000358055.3 + 7 1433_1435 c.921_923delGAA c.(919-924)agg>ag p.RK307del SLC4A3_ENST00000273063.6_In_Frame_Del_p.RK334del|SLC4A3_ENST00000497589.1_3'UTR|SLC4A3_ENST00000317151.3_In_Frame_Del_p.RK307del|SLC4A3_ENST00000373760.2_In_Frame_Del_p.RK307del|SLC4A3_ENST00000373762.3_In_Frame_Del_p.RK334del P48751 B3A3_HUMAN solute carrier family 4 (anion exchanger), member 3 307 bicarbonate transport integral to plasma membrane|membrane fraction inorganic anion exchanger activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 51 Renal(207;0.0183) Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TCCTTCGCAGGAAGAAGAAGAAG 0.650 7 424 --- --- --- --- NKTR 4820 broad.mit.edu 37 3 42680269 42680271 + In_Frame_Del DEL GAG GAG - TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr3:42680269_42680271delGAG ENST00000232978.8 + 13 3261_3263 c.3073_3075delGAG c.(3073-3075)del p.E1029del RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA NM_005385.3 NP_005376.2 P30414 NKTR_HUMAN natural killer-tumor recognition sequence 1029 protein folding membrane cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 41 KIRC - Kidney renal clear cell carcinoma(284;0.24) ATTTGGTGAAGAGGAGGAGGAGG 0.355 7 613 --- --- --- --- CACNA2D3 55799 broad.mit.edu 37 3 55021718 55021719 + Frame_Shift_Del DEL CT CT - TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr3:55021718_55021719delCT ENST00000474759.1 + 31 2676_2677 c.2628_2629delCT c.(2626-2631)gattfs p.DF876fs CACNA2D3_ENST00000490478.1_Frame_Shift_Del_p.DF782fs|CACNA2D3_ENST00000478261.1_3'UTR|CACNA2D3_ENST00000288197.5_Frame_Shift_Del_p.DF876fs|CACNA2D3_ENST00000415676.2_Frame_Shift_Del_p.DF876fs NM_018398.2 NP_060868.2 Q8IZS8 CA2D3_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 3 876 integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3) 59 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) AGACTGGAGACTTTTTTGGTGA 0.436 26 156 --- --- --- --- DNAH12 201625 broad.mit.edu 37 3 57509313 57509313 + Frame_Shift_Del DEL T T - TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr3:57509313delT ENST00000351747.2 - 4 456 c.276delA c.(274-276)aafs p.K92fs DNAH12_ENST00000389536.4_Frame_Shift_Del_p.K92fs|DNAH12_ENST00000311202.6_Frame_Shift_Del_p.K92fs NM_178504.4 NP_848599.3 Q6ZR08 DYH12_HUMAN dynein, axonemal, heavy chain 12 92 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity p.G93fs*7(2) breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1) 25 AACTCACTCCTTTTTTTTTCA 0.254 9 133 --- --- --- --- RP11-325B23.2 0 broad.mit.edu 37 3 98031434 98031434 + RNA DEL A A - TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr3:98031434delA ENST00000508616.1 + 0 149 OR5H8P_ENST00000394191.2_RNA TTACAATCTTAAAAAAAAAAG 0.333 8 143 --- --- --- --- ATR 545 broad.mit.edu 37 3 142242967 142243004 + Frame_Shift_Del DEL CAAAAGCACTGTCACCAACTGTGAGATAATAGGTTCTA CAAAAGCACTGTCACCAACTGTGAGATAATAGGTTCTA - rs56026468 byFrequency TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr3:142242967_142243004delCAAAAGCACTGTCACCAACTGTGAGATAATAGGTTCTA ENST00000350721.4 - 22 4104_4141 c.3983_4020delTAGAACCTATTATCTCACAGTTGGTGACAGTGCTTTTG c.(3982-4020)gfs p.VEPIISQLVTVLL1328fs ATR_ENST00000383101.3_Frame_Shift_Del_p.VEPIISQLVTVLL1264fs NM_001184.3 NP_001175.2 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related 1328 cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4) 122 GGCAACCTTTCAAAAGCACTGTCACCAACTGTGAGATAATAGGTTCTACTGTTTCACT 0.382 Other conserved DNA damage response genes 12 453 --- --- --- --- FGFRL1 53834 broad.mit.edu 37 4 1019055 1019056 + Frame_Shift_Del DEL CA CA - TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr4:1019055_1019056delCA ENST00000398484.2 + 8 2015_2016 c.1435_1436delCA c.(1435-1437)cfs p.H479fs FGFRL1_ENST00000510644.1_Frame_Shift_Del_p.H479fs|FGFRL1_ENST00000264748.6_Frame_Shift_Del_p.H479fs|FGFRL1_ENST00000504138.1_Frame_Shift_Del_p.H479fs Q8N441 FGRL1_HUMAN fibroblast growth factor receptor-like 1 479 His-rich. regulation of cell growth integral to membrane|plasma membrane fibroblast growth factor receptor activity|heparin binding endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1) 13 OV - Ovarian serous cystadenocarcinoma(23;0.0158) cacagacatccacacacacaca 0.584 9 49 --- --- --- --- GABRG1 2565 broad.mit.edu 37 4 46060358 46060358 + Frame_Shift_Del DEL A A - TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr4:46060358delA ENST00000295452.4 - 7 959 c.792delT c.(790-792)ttfs p.F264fs NM_173536.3 NP_775807.2 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 1 264 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity p.F264fs*3(1) breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) TGCTCAGGTCAAAAAAAATTG 0.294 7 392 --- --- --- --- PRDM8 56978 broad.mit.edu 37 4 81123250 81123252 + In_Frame_Del DEL CAG CAG - TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 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) 10 333 --- --- --- --- C4orf22 255119 broad.mit.edu 37 4 81791254 81791254 + Frame_Shift_Del DEL A A - TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr4:81791254delA ENST00000358105.3 + 4 490 c.441delA c.(439-441)ggfs p.G147fs C4orf22_ENST00000508675.1_Frame_Shift_Del_p.G164fs NM_152770.2 NP_689983.2 Q6V702 CD022_HUMAN chromosome 4 open reading frame 22 147 NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5) 15 ACTTTACTGGAAAAAAAAGAC 0.373 7 565 --- --- --- --- ADAD1 132612 broad.mit.edu 37 4 123302211 123302211 + Frame_Shift_Del DEL A A - TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr4:123302211delA ENST00000296513.2 + 4 422 c.237delA c.(235-237)ccfs p.P79fs ADAD1_ENST00000492454.1_3'UTR|ADAD1_ENST00000388725.2_Frame_Shift_Del_p.P61fs|ADAD1_ENST00000388724.2_Frame_Shift_Del_p.P79fs NM_139243.3 NP_640336.1 Q96M93 ADAD1_HUMAN adenosine deaminase domain containing 1 (testis-specific) 79 multicellular organismal development|RNA processing nucleus adenosine deaminase activity|double-stranded RNA binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 35 TCCTTCCTCCAAAAAAAATAC 0.358 9 427 --- --- --- --- PDZD2 23037 broad.mit.edu 37 5 32089602 32089631 + In_Frame_Del DEL CCCTAAATCTCCTAAGTGTAGAGCAGAGGG CCCTAAATCTCCTAAGTGTAGAGCAGAGGG - TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr5:32089602_32089631delCCCTAAATCTCCTAAGTGTAGAGCAGAGGG ENST00000438447.1 + 20 6436_6465 c.6048_6077delCCCTAAATCTCCTAAGTGTAGAGCAGAGGG c.(6046-6078)acc>ac p.TPKSPKCRAEG2016del PDZD2_ENST00000282493.3_In_Frame_Del_p.TPKSPKCRAEG2016del O15018 PDZD2_HUMAN PDZ domain containing 2 2016 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus p.C2022Y(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 GCCCAACCACCCCTAAATCTCCTAAGTGTAGAGCAGAGGGCAGGGCGCCC 0.635 37 1176 --- --- --- --- AC026703.1 0 broad.mit.edu 37 5 32789822 32789823 + Frame_Shift_Del DEL GT GT - TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr5:32789822_32789823delGT ENST00000326958.1 + 1 878_879 c.315_316delGT c.(313-318)gggtfs p.GC105fs NPR3_ENST00000265074.8_3'UTR CTGATTTTGGGTGTGTGTGTGT 0.421 7 517 --- --- --- --- RASGRF2 5924 broad.mit.edu 37 5 80409566 80409568 + In_Frame_Del DEL CCA CCA - TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr5:80409566_80409568delCCA ENST00000265080.4 + 15 2364_2366 c.2297_2299delCCA c.(2296-2301)ccc>c p.PT766del CTD-2193P3.2_ENST00000508993.1_RNA NM_006909.2 NP_008840.1 O14827 RGRF2_HUMAN Ras protein-specific guanine nucleotide-releasing factor 2 766 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|endoplasmic reticulum membrane|plasma membrane protein binding|Rho guanyl-nucleotide exchange factor activity biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357) OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29) TCCAGCAGTCCCACCACCACCAC 0.562 7 359 --- --- --- --- GALNT10 55568 broad.mit.edu 37 5 153755873 153755873 + Frame_Shift_Del DEL T T - TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr5:153755873delT ENST00000297107.6 + 5 742 c.605delT c.(604-606)ctfs p.L202fs GALNT10_ENST00000377661.2_Intron|GALNT10_ENST00000425427.2_Frame_Shift_Del_p.L202fs|SAP30L-AS1_ENST00000519727.1_RNA NM_198321.3 NP_938080.1 Q86SR1 GLT10_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10) 202 Catalytic subdomain A. Golgi membrane|integral to membrane metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 32 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21) Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577) TACATGGCCCTTTTCCCCAGT 0.502 8 1010 --- --- --- --- ZBTB24 9841 broad.mit.edu 37 6 109802729 109802729 + Frame_Shift_Del DEL T T - TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr6:109802729delT ENST00000230122.3 - 2 668 c.501delA c.(499-501)aafs p.K167fs NM_001164313.1|NM_014797.2 NP_001157785.1|NP_055612.2 O43167 ZBT24_HUMAN zinc finger and BTB domain containing 24 167 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1) 22 all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149) Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059) ATGTATTGACTTTTTTTGGTC 0.418 7 1461 --- --- --- --- EPB41L2 2037 broad.mit.edu 37 6 131191073 131191075 + In_Frame_Del DEL CTG CTG - TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr6:131191073_131191075delCTG ENST00000337057.3 - 15 2416_2418 c.2235_2237delCAG c.(2233-2238)agt>ag p.SS745del EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000531410.1_Intron|EPB41L2_ENST00000527659.1_In_Frame_Del_p.SS675del|EPB41L2_ENST00000368128.2_In_Frame_Del_p.SS745del|EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000528282.1_Intron|EPB41L2_ENST00000527411.1_In_Frame_Del_p.SS675del|EPB41L2_ENST00000529208.1_In_Frame_Del_p.SS675del|EPB41L2_ENST00000530481.1_In_Frame_Del_p.SS675del|EPB41L2_ENST00000445890.2_Intron|EPB41L2_ENST00000524581.1_In_Frame_Del_p.SS123del|EPB41L2_ENST00000530757.1_Intron|EPB41L2_ENST00000525193.1_Intron NM_001431.3 NP_001422.1 O43491 E41L2_HUMAN erythrocyte membrane protein band 4.1-like 2 745 cortical actin cytoskeleton organization extrinsic to membrane|plasma membrane|spectrin actin binding|structural molecule activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2) 44 Breast(56;0.0639) OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355) CTCACTCTCACTGCTGCTGCTGC 0.562 7 513 --- --- --- --- SYNE1 23345 broad.mit.edu 37 6 152539540 152539540 + Splice_Site DEL T T - rs35128811 TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr6:152539540delT ENST00000367255.5 - 121 22646 c.e121-2 SYNE1_ENST00000448038.1_Splice_Site|SYNE1_ENST00000356820.4_Splice_Site|SYNE1_ENST00000423061.1_Splice_Site|SYNE1_ENST00000265368.4_Splice_Site|SYNE1_ENST00000341594.5_Splice_Site NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) AACTCCAGCCTTTTTTTCCAC 0.343 HNSCC(10;0.0054) 10 1318 --- --- --- --- LPAL2 0 broad.mit.edu 37 6 160912373 160912373 + RNA DEL T T - TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr6:160912373delT ENST00000335388.5 - 0 508 NR_028092.1 large_intestine(1)|lung(4) 5 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) CCTTCTCTTATGGTAAAGAAC 0.448 103 570 --- --- --- --- HOXA1 3198 broad.mit.edu 37 7 27135314 27135316 + In_Frame_Del DEL CGA CGA - rs10951154 byFrequency TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 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 14 350 --- --- --- --- CCT6P3 0 broad.mit.edu 37 7 64528813 64528814 + RNA INS - - T TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr7:64528813_64528814insT ENST00000426828.1 + 0 621 NR_033416.1 CTTTCTGTAACTTTTTTTTTTT 0.317 12 76 --- --- --- --- CCT6P1 0 broad.mit.edu 37 7 65222951 65222951 + RNA DEL T T - TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr7:65222951delT ENST00000442266.1 + 0 561 TTTCTGTAACTTTTTTTTTTT 0.323 7 87 --- --- --- --- GTF2I 2969 broad.mit.edu 37 7 74149837 74149840 + Frame_Shift_Del DEL AAGA AAGA - TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr7:74149837_74149840delAAGA ENST00000324896.4 + 17 1787_1790 c.1398_1401delAAGA c.(1396-1401)ttfs p.LR466fs GTF2I_ENST00000353920.4_Frame_Shift_Del_p.LR446fs|GTF2I_ENST00000346152.4_Frame_Shift_Del_p.LR445fs|GTF2I_ENST00000416070.1_Frame_Shift_Del_p.LR425fs NM_032999.2 NP_127492.1 P78347 GTF2I_HUMAN general transcription factor IIi 466 negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 19 TCACTAAATTAAGAAAGATGGTGG 0.275 7 32 --- --- --- --- KMT2C 58508 broad.mit.edu 37 7 151845337 151845338 + Frame_Shift_Ins INS - - A TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr7:151845337_151845338insA ENST00000355193.2 - 53 14063_14064 c.13845_13846insT c.(13843-13848)atgtcafs p.MS4615fs KMT2C_ENST00000262189.6_Frame_Shift_Ins_p.MS4558fs lysine (K)-specific methyltransferase 2C AGCAGCTGACCAATTGTGTGGA 0.535 63 339 --- --- --- --- NEFL 4747 broad.mit.edu 37 8 24811843 24811843 + RNA DEL A A - TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr8:24811843delA ENST00000221169.5 - 0 1639 P07196 NFL_HUMAN neurofilament, light polypeptide anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission cytosol|neurofilament identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2) 21 Ovarian(32;0.00965)|Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375) AAAATAAAACAAAAAAAAAAT 0.328 15 273 --- --- --- --- GTF2E2 2961 broad.mit.edu 37 8 30511012 30511014 + In_Frame_Del DEL GAT GAT - rs113662547 TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr8:30511012_30511014delGAT ENST00000355904.4 - 2 384_386 c.102_104delATC c.(100-105)tcg>tc p.SS34del NM_002095.4 NP_002086.1 P29084 T2EB_HUMAN general transcription factor IIE, polypeptide 2, beta 34kDa 34 Poly-Ser. regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction transcription factor TFIIE complex DNA binding|protein binding endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135) CTTCTTTGACGATGATGATGATG 0.384 8 797 --- --- --- --- WHSC1L1 54904 broad.mit.edu 37 8 38205092 38205092 + Frame_Shift_Del DEL T T - TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr8:38205092delT ENST00000317025.8 - 2 1115 c.598delA c.(598-600)gcfs p.S200fs WHSC1L1_ENST00000527502.1_Frame_Shift_Del_p.S200fs|WHSC1L1_ENST00000433384.2_Frame_Shift_Del_p.S200fs|WHSC1L1_ENST00000316985.3_Frame_Shift_Del_p.S200fs NM_023034.1 NP_075447.1 Q9BZ95 NSD3_HUMAN Wolf-Hirschhorn syndrome candidate 1-like 1 200 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) TGCTTGTTGCTTTTTTTCCTC 0.378 T NUP98 AML 8 912 --- --- --- --- COL14A1 7373 broad.mit.edu 37 8 121240956 121240956 + Frame_Shift_Del DEL T T - TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr8:121240956delT ENST00000297848.3 + 18 2415 c.2145delT c.(2143-2145)agfs p.S715fs COL14A1_ENST00000309791.4_Frame_Shift_Del_p.S715fs|COL14A1_ENST00000247781.3_Frame_Shift_Del_p.S620fs|COL14A1_ENST00000537875.1_3'UTR|COL14A1_ENST00000432943.2_3'UTR NM_021110.1 NP_066933.1 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 715 cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) TAGTTGACAGTTTTTGGACAG 0.333 7 590 --- --- --- --- FAM74A3 0 broad.mit.edu 37 9 40715923 40715924 + RNA DEL AA AA - rs62565543 TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr9:40715923_40715924delAA ENST00000604146.1 + 0 262_263 NR_026801.1 endometrium(1)|large_intestine(2)|lung(6)|skin(1) 10 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) GAAGACGTGGAAAGAGCTCAGA 0.569 10 110 --- --- --- --- ANKRD19P 0 broad.mit.edu 37 9 95599088 95599089 + RNA DEL CA CA - TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr9:95599088_95599089delCA ENST00000473204.1 + 0 1169_1170 TTCACGGGCGCACACACACACA 0.421 9 298 --- --- --- --- TTF1 7270 broad.mit.edu 37 9 135277201 135277202 + Frame_Shift_Ins INS - - T TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr9:135277201_135277202insT ENST00000334270.2 - 2 1046_1047 c.1007_1008insA c.(1006-1008)aaafs p.K336fs NM_001205296.1|NM_007344.3 NP_001192225.1|NP_031370.2 Q15361 TTF1_HUMAN transcription termination factor, RNA polymerase I 336 Poly-Lys. negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription nucleolus|nucleoplasm DNA binding endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05) TGGACTTTTTCTTTTTTTTCTT 0.510 7 1113 --- --- --- --- JMJD1C 221037 broad.mit.edu 37 10 64952699 64952699 + Splice_Site DEL T T - TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr10:64952699delT ENST00000399262.2 - 16 6293 c.6076_splice c.e16+1 p.K2025_splice JMJD1C_ENST00000399251.1_3'UTR|JMJD1C_ENST00000542921.1_Splice_Site_p.K1843_splice|JMJD1C_ENST00000402544.1_Splice_Site_p.K1788_splice NM_032776.1 NP_116165.1 Q15652 JHD2C_HUMAN jumonji domain containing 1C 2025 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 77 Prostate(12;0.0119)|all_hematologic(501;0.191) TATGTTTACCTTTTTTTTCCT 0.373 8 642 --- --- --- --- NAV2 89797 broad.mit.edu 37 11 19901475 19901477 + In_Frame_Del DEL AGC AGC - TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr11:19901475_19901477delAGC ENST00000396085.1 + 5 933_935 c.572_574delAGC c.(571-576)aag>a p.KQ191del NAV2_ENST00000349880.4_In_Frame_Del_p.KQ191del|NAV2_ENST00000540292.1_In_Frame_Del_p.KQ122del|NAV2_ENST00000360655.4_In_Frame_Del_p.KQ127del|NAV2_ENST00000527559.2_In_Frame_Del_p.KQ120del|NAV2_ENST00000396087.3_In_Frame_Del_p.KQ191del|NAV2_ENST00000534229.1_3'UTR 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 9 583 --- --- --- --- OR5A1 219982 broad.mit.edu 37 11 59210950 59210951 + Frame_Shift_Ins INS - - T TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr11:59210950_59210951insT ENST00000302030.2 + 1 334_335 c.309_310insT c.(307-312)cattttfs p.HF103fs NM_001004728.1 NP_001004728.1 Q8NGJ0 OR5A1_HUMAN olfactory receptor, family 5, subfamily A, member 1 103 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1) 28 GTGCTGCTCAGTTTTTTTTCTT 0.510 7 1039 --- --- --- --- RP11-783K16.14 0 broad.mit.edu 37 11 63997567 63997567 + RNA DEL A A - rs11364788 TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr11:63997567delA ENST00000534988.1 - 0 99 GTGACTTGGGAAAAAAAAAAA 0.498 23 54 --- --- --- --- KDM2A 22992 broad.mit.edu 37 11 67018079 67018081 + In_Frame_Del DEL GAG GAG - TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr11:67018079_67018081delGAG ENST00000529006.2 + 17 3024_3026 c.2578_2580delGAG c.(2578-2580)del p.E866del KDM2A_ENST00000530342.1_In_Frame_Del_p.E427del|KDM2A_ENST00000308783.5_In_Frame_Del_p.E324del|KDM2A_ENST00000398645.2_Intron|KDM2A_ENST00000526258.1_3'UTR NM_012308.2 NP_036440.1 Q9Y2K7 KDM2A_HUMAN lysine (K)-specific demethylase 2A 866 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2) 36 ggaggaggaagaggaggaggagg 0.655 8 195 --- --- --- --- FOLH1B 219595 broad.mit.edu 37 11 89403730 89403731 + RNA INS - - AAAC TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr11:89403730_89403731insAAAC ENST00000532352.1 + 0 994 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2) 48 aaagtgaaTCAaaacaaacaaa 0.347 18 75 --- --- --- --- ETS1 2113 broad.mit.edu 37 11 128354796 128354799 + Frame_Shift_Del DEL TGTC TGTC - TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr11:128354796_128354799delTGTC ENST00000392668.3 - 7 849_852 c.781_784delGACA c.(781-786)ccfs p.DT261fs ETS1_ENST00000319397.5_Frame_Shift_Del_p.DT217fs|ETS1_ENST00000531611.1_Frame_Shift_Del_p.DT217fs|ETS1_ENST00000345075.4_Frame_Shift_Del_p.DT217fs|ETS1_ENST00000526145.1_Frame_Shift_Del_p.DT217fs|ETS1_ENST00000535549.1_Intron NM_001143820.1 NP_001137292.1 P14921 ETS1_HUMAN v-ets avian erythroblastosis virus E26 oncogene homolog 1 217 cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3) 35 all_hematologic(175;0.0537) Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833) TTCTGCAAGGTGTCTGTCTGGAGA 0.505 37 511 --- --- --- --- TMEM19 55266 broad.mit.edu 37 12 72094757 72094757 + Frame_Shift_Del DEL T T - TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr12:72094757delT ENST00000266673.5 + 6 1587 c.993delT c.(991-993)ggfs p.G331fs NM_018279.3 NP_060749.2 Q96HH6 TMM19_HUMAN transmembrane protein 19 331 integral to membrane large_intestine(1)|lung(8) 9 Breast(359;0.0889) GBM - Glioblastoma multiforme(134;0.044) CTGCTTGGGGTTTTTGGCCCA 0.433 8 853 --- --- --- --- RP11-248G5.8 0 broad.mit.edu 37 13 52796688 52796688 + RNA DEL C C - TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr13:52796688delC ENST00000451298.1 - 0 1229 RP11-64P12.8_ENST00000606031.1_RNA cgctattgctccccacccatc 0.537 13 125 --- --- --- --- PCNX 22990 broad.mit.edu 37 14 71444749 71444749 + Frame_Shift_Del DEL A A - TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr14:71444749delA ENST00000304743.2 + 6 2141 c.1695delA c.(1693-1695)ggfs p.G565fs PCNX_ENST00000439984.3_Frame_Shift_Del_p.G565fs|PCNX_ENST00000238570.5_Frame_Shift_Del_p.G565fs NM_014982.2 NP_055797.2 Q96RV3 PCX1_HUMAN pecanex homolog (Drosophila) 565 integral to membrane NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1) 87 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) GACGCACAGGAAAAAAACGGG 0.473 7 797 --- --- --- --- DDX24 57062 broad.mit.edu 37 14 94545821 94545823 + In_Frame_Del DEL CCT CCT - TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr14:94545821_94545823delCCT ENST00000330836.5 - 2 397_399 c.266_268delAGG c.(265-270)gga>g p.EG89del DDX24_ENST00000544005.1_Intron|DDX24_ENST00000555054.1_In_Frame_Del_p.EG46del NM_020414.3 NP_065147.1 Q9GZR7 DDX24_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 24 89 Poly-Glu. RNA metabolic process cytoplasm|nucleolus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1) 23 all_cancers(154;0.12) Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207) CTAGACTTTCCCTCCTCCTCCTC 0.443 8 1050 --- --- --- --- IGHV3-43 0 broad.mit.edu 37 14 106926652 106926653 + RNA DEL TC TC - TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr14:106926652_106926653delTC ENST00000434710.1 - 0 71_72 CATGGTGCGTTCTCTGTGTTCA 0.495 8 1033 --- --- --- --- SPINT1 6692 broad.mit.edu 37 15 41149075 41149077 + In_Frame_Del DEL CAC CAC - TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr15:41149075_41149077delCAC ENST00000344051.4 + 11 1726_1728 c.1492_1494delCAC c.(1492-1494)del p.H501del SPINT1_ENST00000431806.1_In_Frame_Del_p.H485del|SPINT1_ENST00000562057.1_In_Frame_Del_p.H485del O43278 SPIT1_HUMAN serine peptidase inhibitor, Kunitz type 1 501 extracellular region|membrane fraction protein binding|serine-type endopeptidase inhibitor activity central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1) 16 all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166) CTTCCACGGACACCACCACCACC 0.586 7 1313 --- --- --- --- IL16 3603 broad.mit.edu 37 15 81592162 81592164 + In_Frame_Del DEL CCT CCT - TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr15:81592162_81592164delCCT ENST00000394660.2 + 14 2855_2857 c.2495_2497delCCT c.(2494-2499)gcc>g p.AS832del IL16_ENST00000560230.1_3'UTR|IL16_ENST00000302987.4_In_Frame_Del_p.AS832del|IL16_ENST00000394652.2_In_Frame_Del_p.AS131del NM_001172128.1|NM_172217.3 NP_001165599.1|NP_757366.2 Q14005 IL16_HUMAN interleukin 16 832 immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|extracellular space|nucleus|plasma membrane cytokine activity p.S792delS(1)|p.S838delS(1) NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1) 57 CACATCCGGGcctcctcctcctc 0.586 7 337 --- --- --- --- RP11-266O8.1 0 broad.mit.edu 37 15 93974509 93974510 + RNA DEL TC TC - rs57286078 TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr15:93974509_93974510delTC ENST00000543286.1 + 0 545 TTGGCTGGGTTCtttttttttt 0.431 7 268 --- --- --- --- RP11-266O8.1 0 broad.mit.edu 37 15 93974510 93974510 + RNA DEL C C - rs57286078 TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr15:93974510delC ENST00000543286.1 + 0 545 TGGCTGGGTTCtttttttttt 0.433 12 245 --- --- --- --- E4F1 1877 broad.mit.edu 37 16 2284179 2284196 + In_Frame_Del DEL GCCGTTCGCCTGCGCGCA GCCGTTCGCCTGCGCGCA - rs137969975 TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr16:2284179_2284196delGCCGTTCGCCTGCGCGCA ENST00000301727.4 + 10 1431_1448 c.1383_1400delGCCGTTCGCCTGCGCGCA c.(1381-1401)agg>ag p.RPFACAQ461del E4F1_ENST00000564139.1_In_Frame_Del_p.RPFACAQ461del|E4F1_ENST00000565090.1_Intron NM_004424.3 NP_004415.2 Q66K89 E4F1_HUMAN E4F transcription factor 1 461 Interaction with BMI1.|Mediates interaction with CDKN2A. cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth cytoplasm|nucleoplasm DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding ovary(1) 1 CAGGGCCGAGGCCGTTCGCCTGCGCGCAGTGTGGCAAG 0.693 16 119 --- --- --- --- RP11-314A20.2 0 broad.mit.edu 37 17 4608074 4608075 + RNA DEL GT GT - TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr17:4608074_4608075delGT ENST00000497885.1 + 0 141 NR_103482.1 AATCAGTAACGTGTGTGTGTGT 0.515 8 82 --- --- --- --- RAI1 10743 broad.mit.edu 37 17 17699993 17699995 + In_Frame_Del DEL GCA GCA - TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr17:17699993_17699995delGCA ENST00000353383.1 + 3 4200_4202 c.3731_3733delGCA c.(3730-3735)cgc>c p.RS1244del RAI1_ENST00000261641.6_In_Frame_Del_p.RS1244del NM_030665.3 NP_109590.3 Q7Z5J4 RAI1_HUMAN retinoic acid induced 1 1244 Poly-Ser. cytoplasm|nucleus zinc ion binding breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7) 48 READ - Rectum adenocarcinoma(1115;0.0276) TTGCGGAGCCGCAGCAGCAGCAG 0.626 8 258 --- --- --- --- RP11-156P1.3 0 broad.mit.edu 37 17 45128638 45128638 + RNA DEL G G - TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr17:45128638delG ENST00000575173.1 - 0 418 Gtttttttttgttttgttttt 0.323 8 354 --- --- --- --- RP11-178C3.2 0 broad.mit.edu 37 17 58050857 58050857 + RNA DEL G G - TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr17:58050857delG ENST00000586209.1 + 0 158 TTTTTTTTTTGGCAGTTTTTA 0.423 8 80 --- --- --- --- TMEM145 284339 broad.mit.edu 37 19 42818632 42818632 + Frame_Shift_Del DEL T T - TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr19:42818632delT ENST00000598766.1 + 3 255 c.255delT c.(253-255)tafs p.Y85fs TMEM145_ENST00000301204.3_Frame_Shift_Del_p.Y75fs|TMEM145_ENST00000601020.1_3'UTR Q8NBT3 TM145_HUMAN transmembrane protein 145 75 integral to membrane breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1) 27 Prostate(69;0.00682) TCCTCCTCTATTTTGATGACC 0.602 7 1155 --- --- --- --- LIPE-AS1 0 broad.mit.edu 37 19 43136362 43136363 + RNA DEL TG TG - TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr19:43136362_43136363delTG ENST00000594688.1 + 0 1450 LIPE-AS1_ENST00000594624.2_RNA NR_073179.1 TGAGTATGTATGTGTGTGTGTG 0.505 8 180 --- --- --- --- RASSF2 9770 broad.mit.edu 37 20 4770321 4770339 + Frame_Shift_Del DEL TAGGCTGGTGTGAACACGG TAGGCTGGTGTGAACACGG - TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr20:4770321_4770339delTAGGCTGGTGTGAACACGG ENST00000379400.3 - 8 737_755 c.542_560delCCGTGTTCACACCAGCCTA c.(541-561)ttfs p.SVFTPAY181fs RASSF2_ENST00000478553.1_5'UTR|RASSF2_ENST00000379376.2_Frame_Shift_Del_p.SVFTPAY181fs NM_014737.2 NP_055552.1 P50749 RASF2_HUMAN Ras association (RalGDS/AF-6) domain family member 2 181 Ras-associating. cell cycle|signal transduction nucleus protein binding endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2) 34 GACAGAGCCATAGGCTGGTGTGAACACGGATGTCTGTCA 0.539 17 240 --- --- --- --- ZNF337 26152 broad.mit.edu 37 20 25657231 25657232 + Frame_Shift_Del DEL TG TG - TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr20:25657231_25657232delTG ENST00000376436.1 - 4 1231_1232 c.692_693delCA c.(691-693)afs p.T231fs ZNF337_ENST00000252979.5_Frame_Shift_Del_p.T231fs|ZNF337_ENST00000538750.1_Frame_Shift_Del_p.T199fs|RP4-694B14.5_ENST00000439498.1_RNA|RP4-694B14.5_ENST00000414393.1_RNA|RP4-694B14.5_ENST00000455791.1_RNA zinc finger protein 337 breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 ACTTCTCTCCTGTGTGTGTGTT 0.510 9 535 --- --- --- --- LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664078 22664079 + RNA DEL TT TT - rs114253646 by1000genomes TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr22:22664078_22664079delTT ENST00000426066.1 + 0 623 NR_027293.1 TGTGTGTGTGTTTTTATCTTGC 0.381 9 472 --- --- --- --- NF2 4771 broad.mit.edu 37 22 30050682 30050682 + Frame_Shift_Del DEL T T - TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr22:30050682delT ENST00000338641.4 + 5 925 c.484delT c.(484-486)ttfs p.F162fs NF2_ENST00000347330.5_Intron|NF2_ENST00000361676.4_Frame_Shift_Del_p.F120fs|NF2_ENST00000403435.1_Frame_Shift_Del_p.F162fs|NF2_ENST00000334961.7_Frame_Shift_Del_p.F79fs|NF2_ENST00000361166.4_Frame_Shift_Del_p.F162fs|NF2_ENST00000403999.3_Frame_Shift_Del_p.F162fs|NF2_ENST00000397789.3_Frame_Shift_Del_p.F162fs|NF2_ENST00000413209.2_Intron|NF2_ENST00000361452.4_Frame_Shift_Del_p.F121fs|NF2_ENST00000353887.4_Frame_Shift_Del_p.F79fs NM_000268.3|NM_016418.5|NM_181832.2 NP_000259.1|NP_057502.2|NP_861970.1 P35240 MERL_HUMAN neurofibromin 2 (merlin) 162 FERM. actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane cytoskeletal protein binding|protein binding p.?(3) NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 776 CAAGCGGGGATTTTTGGCCCA 0.423 """D, Mis, N, F, S, O""" """meningioma, acoustic neuroma, renal """ """meningioma, acoustic neuroma""" Neurofibromatosis, type 2 8 976 --- --- --- --- RP1-272J12.1 0 broad.mit.edu 37 22 35411562 35411563 + RNA DEL AA AA - rs72115028 TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr22:35411562_35411563delAA ENST00000448318.4 - 0 836 CCCAAGGTGGAAAAAAAAAAAA 0.510 4 3 --- --- --- --- TCF20 6942 broad.mit.edu 37 22 42605990 42605992 + In_Frame_Del DEL CTG CTG - TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chr22:42605990_42605992delCTG ENST00000359486.3 - 1 5456_5458 c.5320_5322delCAG c.(5320-5322)del p.Q1774del TCF20_ENST00000335626.4_In_Frame_Del_p.Q1774del|TCF20_ENST00000404876.1_In_Frame_Del_p.Q75del NM_005650.1 NP_005641.1 Q9UGU0 TCF20_HUMAN transcription factor 20 (AR1) 1774 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5) 66 TCTGCTCCTTCTGCTGCTGCTGC 0.601 8 598 --- --- --- --- RBM10 8241 broad.mit.edu 37 X 47030561 47030563 + In_Frame_Del DEL GGA GGA - TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chrX:47030561_47030563delGGA ENST00000377604.3 + 4 1078_1080 c.336_338delGGA c.(334-339)ggg>gg p.GE112del RBM10_ENST00000329236.7_Intron|RBM10_ENST00000345781.6_Intron|RBM10_ENST00000468791.1_3'UTR NM_001204467.1|NM_001204468.1|NM_005676.4 NP_001191396.1|NP_001191397.1|NP_005667.2 P98175 RBM10_HUMAN RNA binding motif protein 10 112 mRNA processing|RNA splicing chromatin remodeling complex nucleotide binding|RNA binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 48 CCGAGCAAGGggaggaggaggag 0.660 9 135 --- --- --- --- GAGE10 643832 broad.mit.edu 37 X 49173752 49173752 + Frame_Shift_Del DEL A A - TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chrX:49173752delA ENST00000407599.3 + 4 406 c.313delA c.(313-315)aafs p.K105fs NM_001098413.2 NP_001091883.2 A6NGK3 GAG10_HUMAN G antigen 10 105 breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1) 4 Ovarian(276;0.236) AGAGGAGGTGAAAAGGCCTGA 0.468 7 1395 --- --- --- --- COL4A6 1288 broad.mit.edu 37 X 107430450 107430450 + Frame_Shift_Del DEL T T - TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chrX:107430450delT ENST00000394872.2 - 23 2061 c.1830delA c.(1828-1830)aafs p.K610fs COL4A6_ENST00000538570.1_Frame_Shift_Del_p.K609fs|COL4A6_ENST00000372216.4_Frame_Shift_Del_p.K610fs|COL4A6_ENST00000334504.7_Frame_Shift_Del_p.K609fs|COL4A6_ENST00000545689.1_Frame_Shift_Del_p.K609fs Q14031 CO4A6_HUMAN collagen, type IV, alpha 6 610 Triple-helical region. cell adhesion|extracellular matrix organization collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 92 CAGGATGGCCTTTTTCACCAG 0.512 Alport syndrome with Diffuse Leiomyomatosis 8 1176 --- --- --- --- DOCK11 139818 broad.mit.edu 37 X 117742086 117742096 + Frame_Shift_Del DEL TCTAAGATCAT TCTAAGATCAT - TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx ecd22f1b-a14d-4374-a187-e549cce31df3 ac6e1f37-95f0-4fc5-b7be-72c734fc19c9 g.chrX:117742086_117742096delTCTAAGATCAT ENST00000276204.6 + 25 2807_2817 c.2733_2743delTCTAAGATCAT c.(2731-2745)tatcfs p.YLRSF911fs DOCK11_ENST00000276202.7_Frame_Shift_Del_p.YLRSF911fs Q5JSL3 DOC11_HUMAN dedicator of cytokinesis 11 911 blood coagulation cytosol GTP binding breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 84 TGGATAGTTATCTAAGATCATTCATAAAGGT 0.313 82 665 --- --- --- ---