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 NBEAL2 23218 broad.mit.edu 37 3 47043969 47043969 + Missense_Mutation SNP C C T TCGA-EB-A44Q-06A-11D-A25O-08 TCGA-EB-A44Q-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A 0C93A238-4BAE-4C54-90C2-14A8C1E3995C g.chr3:47043969C>T ENST00000450053.3 + 32 5439 c.5260C>T c.(5260-5262)Cgg>Tgg p.R1754W NBEAL2_ENST00000292309.5_Missense_Mutation_p.R1570W|NBEAL2_ENST00000383740.2_Missense_Mutation_p.R33W NM_015175.2 NP_055990.1 Q6ZNJ1 NBEL2_HUMAN neurobeachin-like 2 1754 binding NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 Acute lymphoblastic leukemia(5;0.0534) BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656) CAGTGGGCAGCGGCGCCAGTG 0.577000 10 18 0 0 1 0 0 RBM12B 389677 broad.mit.edu 37 8 94748232 94748232 + Missense_Mutation SNP C C T TCGA-EB-A44Q-06A-11D-A25O-08 TCGA-EB-A44Q-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A 0C93A238-4BAE-4C54-90C2-14A8C1E3995C g.chr8:94748232C>T ENST00000399300.2 - 3 620 c.407G>A c.(406-408)gGt>gAt p.G136D RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Missense_Mutation_p.G136D NM_203390.2 NP_976324.2 Q8IXT5 RB12B_HUMAN RNA binding motif protein 12B 136 nucleotide binding|RNA binding breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 30 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.0168) ATGTCCTGTACCATTAGTATG 0.388000 4 121 0 0 1 0 0 SLC2A4 6517 broad.mit.edu 37 17 7187860 7187860 + Missense_Mutation SNP G G A TCGA-EB-A44Q-06A-11D-A25O-08 TCGA-EB-A44Q-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A 0C93A238-4BAE-4C54-90C2-14A8C1E3995C g.chr17:7187860G>A ENST00000317370.8 + 7 1052 c.784G>A c.(784-786)Gat>Aat p.D262N SLC2A4_ENST00000571308.1_Missense_Mutation_p.D262N|SLC2A4_ENST00000424875.2_Missense_Mutation_p.D252N NM_001042.2 NP_001033.1 P14672 GTR4_HUMAN solute carrier family 2 (facilitated glucose transporter), member 4 262 carbohydrate metabolic process|glucose homeostasis|glucose import external side of plasma membrane|integral to plasma membrane|perinuclear region of cytoplasm D-glucose transmembrane transporter activity|protein binding breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 17 TGAGCTGAAGGATGAGAAGCG 0.642000 10 46 0 0 1 0 0 ZACN 353174 broad.mit.edu 37 17 74078028 74078028 + Missense_Mutation SNP G G A TCGA-EB-A44Q-06A-11D-A25O-08 TCGA-EB-A44Q-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A 0C93A238-4BAE-4C54-90C2-14A8C1E3995C g.chr17:74078028G>A ENST00000334586.5 + 8 1029 c.946G>A c.(946-948)Ggg>Agg p.G316R EXOC7_ENST00000589210.1_3'UTR|EXOC7_ENST00000591724.1_Intron|EXOC7_ENST00000607838.1_3'UTR|EXOC7_ENST00000332065.5_3'UTR NM_180990.3 NP_851321.2 Q401N2 ZACN_HUMAN zinc activated ligand-gated ion channel 316 Leu-rich. response to zinc ion integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane extracellular ligand-gated ion channel activity|receptor activity breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 11 GCTGCTGGCTGGGCTGCTGGC 0.657000 15 19 0 0 1 0 0 PPWD1 23398 broad.mit.edu 37 5 64872830 64872830 + Missense_Mutation SNP A A G TCGA-EB-A44Q-06A-11D-A25O-08 TCGA-EB-A44Q-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A 0C93A238-4BAE-4C54-90C2-14A8C1E3995C g.chr5:64872830A>G ENST00000261308.5 + 6 1166 c.1094A>G c.(1093-1095)gAa>gGa p.E365G PPWD1_ENST00000538977.1_Missense_Mutation_p.E209G|PPWD1_ENST00000535264.1_Missense_Mutation_p.E335G NM_015342.3 NP_056157.1 Q96BP3 PPWD1_HUMAN peptidylprolyl isomerase domain and WD repeat containing 1 365 protein folding catalytic step 2 spliceosome peptidyl-prolyl cis-trans isomerase activity breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1) 19 Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186) Lung(70;0.00451) GTTTTTGATGAAACTGGACAC 0.368000 20 51 0 0 1 0 0 TRBV5-4 28611 broad.mit.edu 37 7 142168862 142168862 + RNA SNP A A G rs140095394 by1000genomes TCGA-EB-A44Q-06A-11D-A25O-08 TCGA-EB-A44Q-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A 0C93A238-4BAE-4C54-90C2-14A8C1E3995C g.chr7:142168862A>G ENST00000454561.2 - 0 183 TGGGCCAGGCAGCACTGCACC 0.597000 3 36 0 0 1 0 0 ADAMTS16 170690 broad.mit.edu 37 5 5182346 5182346 + Nonsense_Mutation SNP C C T TCGA-EB-A44Q-06A-11D-A25O-08 TCGA-EB-A44Q-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A 0C93A238-4BAE-4C54-90C2-14A8C1E3995C g.chr5:5182346C>T ENST00000274181.7 + 4 829 c.691C>T c.(691-693)Caa>Taa p.Q231* ADAMTS16_ENST00000511368.1_Nonsense_Mutation_p.Q231* NM_139056.2 NP_620687.2 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 16 231 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 107 GCTGGCACATCAACCCCTGCA 0.552000 118 35 0 0 1 0 0 ABCA4 24 broad.mit.edu 37 1 94471026 94471026 + Nonsense_Mutation SNP G G A rs61753038 TCGA-EB-A44Q-06A-11D-A25O-08 TCGA-EB-A44Q-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A 0C93A238-4BAE-4C54-90C2-14A8C1E3995C g.chr1:94471026G>A ENST00000370225.3 - 44 6204 c.6118C>T c.(6118-6120)Cga>Tga p.R2040* ABCA4_ENST00000535881.1_Nonsense_Mutation_p.R159*|ABCA4_ENST00000536513.1_Nonsense_Mutation_p.R310*|ABCA4_ENST00000465352.1_5'UTR NM_000350.2 NP_000341.2 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A (ABC1), member 4 2040 ABC transporter 2. phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 147 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) GGTACACCTCGAAGCCGGGCA 0.423000 14 37 0 0 1 0 0 CA2 760 broad.mit.edu 37 8 86393017 86393017 + Silent SNP A A G TCGA-EB-A44Q-06A-11D-A25O-08 TCGA-EB-A44Q-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A 0C93A238-4BAE-4C54-90C2-14A8C1E3995C g.chr8:86393017A>G ENST00000285379.5 + 7 1012 c.782A>G c.(781-783)tAa>tGa p.*261* NM_000067.2 NP_000058.1 P00918 CAH2_HUMAN carbonic anhydrase II 0 one-carbon metabolic process apical part of cell carbonate dehydratase activity|zinc ion binding central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1) 11 Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021) TCCTTCAAATAAGATGGTCCC 0.468000 5 33 0 0 1 0 0 HCN1 348980 broad.mit.edu 37 5 45262677 45262677 + Silent SNP C C A TCGA-EB-A44Q-06A-11D-A25O-08 TCGA-EB-A44Q-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A 0C93A238-4BAE-4C54-90C2-14A8C1E3995C g.chr5:45262677C>A ENST00000303230.4 - 8 2076 c.2019G>T c.(2017-2019)ctG>ctT p.L673L NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 673 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity p.L673L(1) NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 TGCTGTGAGACAGGCTGGTCG 0.592000 16 36 4.75885e-15 5.41777e-15 1 1 0 DOT1L 84444 broad.mit.edu 37 19 2210753 2210753 + Missense_Mutation SNP T T G TCGA-EB-A44Q-06A-11D-A25O-08 TCGA-EB-A44Q-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A 0C93A238-4BAE-4C54-90C2-14A8C1E3995C g.chr19:2210753T>G ENST00000398665.3 + 14 1286 c.1250T>G c.(1249-1251)aTg>aGg p.M417R NM_032482.2 NP_115871.1 Q8TEK3 DOT1L_HUMAN DOT1-like histone H3K79 methyltransferase 417 nucleus DNA binding|histone-lysine N-methyltransferase activity|protein binding NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9) 42 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCCAAGAAGATGAACACTGCG 0.617000 19 46 0 0 1 0 0 DCAF11 80344 broad.mit.edu 37 14 24590600 24590600 + Missense_Mutation SNP G G A TCGA-EB-A44Q-06A-11D-A25O-08 TCGA-EB-A44Q-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A 0C93A238-4BAE-4C54-90C2-14A8C1E3995C g.chr14:24590600G>A ENST00000446197.3 + 13 2000 c.1273G>A c.(1273-1275)Gac>Aac p.D425N DCAF11_ENST00000396941.4_Missense_Mutation_p.D399N|DCAF11_ENST00000396936.1_Missense_Mutation_p.D325N|RP11-468E2.6_ENST00000558325.1_Missense_Mutation_p.G14E|DCAF11_ENST00000559115.1_Missense_Mutation_p.D425N NM_025230.4 NP_079506.3 Q8TEB1 DCA11_HUMAN DDB1 and CUL4 associated factor 11 425 CUL4 RING ubiquitin ligase complex protein binding GCTCCCAGGGGACAGCTCCTT 0.577000 24 53 0 0 1 0 0 RNF4 6047 broad.mit.edu 37 4 2515509 2515509 + Missense_Mutation SNP A A G TCGA-EB-A44Q-06A-11D-A25O-08 TCGA-EB-A44Q-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A 0C93A238-4BAE-4C54-90C2-14A8C1E3995C g.chr4:2515509A>G ENST00000511600.1 + 8 2051 c.536A>G c.(535-537)aAg>aGg p.K179R RNF4_ENST00000541204.1_Missense_Mutation_p.K179R|RNF4_ENST00000314289.8_Missense_Mutation_p.K179R|RNF4_ENST00000506706.1_Missense_Mutation_p.K179R|RNF4_ENST00000511859.1_3'UTR P78317 RNF4_HUMAN ring finger protein 4 179 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination|regulation of kinetochore assembly|regulation of spindle assembly|response to arsenic-containing substance cytoplasm|PML body androgen receptor binding|DNA binding|nucleosome binding|sequence-specific DNA binding transcription factor activity|SUMO polymer binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding endometrium(2)|kidney(2)|lung(1) 5 all_epithelial(65;0.241) TGTAGGAAAAAGATCAACCAC 0.493000 3 72 0 0 1 0 0 ZNF28 7576 broad.mit.edu 37 19 53304464 53304464 + Missense_Mutation SNP C C T TCGA-EB-A44Q-06A-11D-A25O-08 TCGA-EB-A44Q-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A 0C93A238-4BAE-4C54-90C2-14A8C1E3995C g.chr19:53304464C>T ENST00000438150.2 - 2 1368 c.475G>A c.(475-477)Gaa>Aaa p.E159K ZNF28_ENST00000457749.2_Missense_Mutation_p.E212K|ZNF28_ENST00000414252.2_Missense_Mutation_p.E159K|ZNF28_ENST00000360272.4_Missense_Mutation_p.E159K P17035 ZNF28_HUMAN zinc finger protein 28 212 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145) AAAGATTTTTCTCTCATGTGT 0.323000 27 72 0 0 1 0 0 DGKH 160851 broad.mit.edu 37 13 42763340 42763340 + Missense_Mutation SNP G G A TCGA-EB-A44Q-06A-11D-A25O-08 TCGA-EB-A44Q-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A 0C93A238-4BAE-4C54-90C2-14A8C1E3995C g.chr13:42763340G>A ENST00000379274.2 + 15 1828 c.1399G>A c.(1399-1401)Gtt>Att p.V467I DGKH_ENST00000536612.1_Missense_Mutation_p.V467I|DGKH_ENST00000337343.4_Missense_Mutation_p.V603I|DGKH_ENST00000261491.4_Missense_Mutation_p.V603I|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000538674.1_Missense_Mutation_p.V358I|DGKH_ENST00000540693.1_Missense_Mutation_p.V603I Q86XP1 DGKH_HUMAN diacylglycerol kinase, eta 603 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization endosome|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109) TGGGGATGACGTTACAAAACC 0.502000 11 35 0 0 1 0 0 DNMT3L 29947 broad.mit.edu 37 21 45670710 45670710 + Missense_Mutation SNP C C A TCGA-EB-A44Q-06A-11D-A25O-08 TCGA-EB-A44Q-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A 0C93A238-4BAE-4C54-90C2-14A8C1E3995C g.chr21:45670710C>A ENST00000270172.3 - 10 1375 c.892G>T c.(892-894)Gca>Tca p.A298S AP001059.5_ENST00000442785.1_RNA|DNMT3L_ENST00000418993.1_Missense_Mutation_p.A298S NM_013369.3 NP_037501.2 Q9UJW3 DNM3L_HUMAN DNA (cytosine-5-)-methyltransferase 3-like 298 DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis cytosol enzyme activator activity|enzyme binding|metal ion binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3) 11 Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781) AAGCGAGATGCGACGTCCAGG 0.647000 29 45 2.70662e-09 2.9894e-09 1 1 0 CEACAM8 1088 broad.mit.edu 37 19 43097837 43097837 + Missense_Mutation SNP C C T TCGA-EB-A44Q-06A-11D-A25O-08 TCGA-EB-A44Q-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A 0C93A238-4BAE-4C54-90C2-14A8C1E3995C g.chr19:43097837C>T ENST00000244336.5 - 2 381 c.280G>A c.(280-282)Gca>Aca p.A94T CEACAM8_ENST00000599005.1_Intron|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000594688.1_RNA NM_001816.3 NP_001807.2 P31997 CEAM8_HUMAN carcinoembryonic antigen-related cell adhesion molecule 8 94 Ig-like V-type. immune response anchored to membrane|extracellular space|integral to plasma membrane endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 16 Prostate(69;0.00899) TTGCTGTATGCAGGCCCTGGG 0.473000 4 159 0 0 1 0 0 CBL 867 broad.mit.edu 37 11 119149238 119149238 + Missense_Mutation SNP T T A TCGA-EB-A44Q-06A-11D-A25O-08 TCGA-EB-A44Q-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A 0C93A238-4BAE-4C54-90C2-14A8C1E3995C g.chr11:119149238T>A ENST00000264033.4 + 9 1622 c.1246T>A c.(1246-1248)Tgt>Agt p.C416S NM_005188.3 NP_005179.2 P22681 CBL_HUMAN Cbl proto-oncogene, E3 ubiquitin protein ligase 416 Asp/Glu-rich (acidic). epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis cytosol|nucleus calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding p.G397_I429del(1)|p.E366_K477del(1) breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 251 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784) AGGTCAGGGCTGTCCTTTCTG 0.428000 """T, Mis S, O""" MLL """AML, JMML, MDS""" Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies 19 21 0 0 1 0 0 OASL 8638 broad.mit.edu 37 12 121476582 121476582 + Missense_Mutation SNP C C G TCGA-EB-A44Q-06A-11D-A25O-08 TCGA-EB-A44Q-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A 0C93A238-4BAE-4C54-90C2-14A8C1E3995C g.chr12:121476582C>G ENST00000257570.5 - 1 463 c.193G>C c.(193-195)Gtc>Ctc p.V65L OASL_ENST00000339275.5_Missense_Mutation_p.V65L NM_003733.3 NP_003724.1 Q15646 OASL_HUMAN 2'-5'-oligoadenylate synthetase-like 65 interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway cytoplasm|nucleolus ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2) 14 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) CTTACCTTGACTACCTTCAGC 0.607000 28 38 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 41710218 41710218 + Silent SNP C C A TCGA-EB-A44Q-06A-11D-A25O-08 TCGA-EB-A44Q-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A 0C93A238-4BAE-4C54-90C2-14A8C1E3995C g.chr21:41710218C>A ENST00000400454.1 - 8 2070 c.1593G>T c.(1591-1593)ccG>ccT p.P531P NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 531 Ig-like C2-type 6. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) TGGAGTAATACGGATAGCCAA 0.443000 3 47 0.115264 0.116843 1 1 0 SLC7A13 157724 broad.mit.edu 37 8 87241944 87241944 + Missense_Mutation SNP T T C TCGA-EB-A44Q-06A-11D-A25O-08 TCGA-EB-A44Q-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A 0C93A238-4BAE-4C54-90C2-14A8C1E3995C g.chr8:87241944T>C ENST00000297524.3 - 1 666 c.563A>G c.(562-564)gAg>gGg p.E188G SLC7A13_ENST00000520624.1_Intron|SLC7A13_ENST00000419776.2_Missense_Mutation_p.E188G NM_138817.2 NP_620172.2 Q8TCU3 S7A13_HUMAN solute carrier family 7 (anionic amino acid transporter), member 13 188 integral to membrane amino acid transmembrane transporter activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 45 TTCTACATTCTCCTTTTTCCC 0.418000 17 56 0 0 1 0 0 TRIM16 10626 broad.mit.edu 37 17 15535885 15535885 + Missense_Mutation SNP G G C TCGA-EB-A44Q-06A-11D-A25O-08 TCGA-EB-A44Q-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A 0C93A238-4BAE-4C54-90C2-14A8C1E3995C g.chr17:15535885G>C ENST00000455584.2 - 4 996 c.953C>G c.(952-954)aCt>aGt p.T318S TRIM16_ENST00000577886.1_Missense_Mutation_p.T102S|TRIM16_ENST00000416464.2_Missense_Mutation_p.T188S|TRIM16_ENST00000579219.1_Intron|TRIM16_ENST00000578237.1_Missense_Mutation_p.T318S|TRIM16_ENST00000336708.7_Missense_Mutation_p.T318S TAAGTGTACAGTGGATTCCGT 0.453000 20 30 0 0 1 0 0 EPHA8 2046 broad.mit.edu 37 1 22903371 22903371 + Missense_Mutation SNP T T C TCGA-EB-A44Q-06A-11D-A25O-08 TCGA-EB-A44Q-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A 0C93A238-4BAE-4C54-90C2-14A8C1E3995C g.chr1:22903371T>C ENST00000166244.3 + 3 893 c.821T>C c.(820-822)gTg>gCg p.V274A EPHA8_ENST00000374644.4_Missense_Mutation_p.V274A|EPHA8_ENST00000538803.1_Missense_Mutation_p.V274A NM_020526.3 NP_065387.1 P29322 EPHA8_HUMAN EPH receptor A8 274 Cys-rich. integral to plasma membrane ATP binding|ephrin receptor activity breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 61 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) GATGCCTGTGTGGGTGAGCGC 0.677000 13 8 0 0 1 0 0 MBOAT2 129642 broad.mit.edu 37 2 9083352 9083352 + Missense_Mutation SNP C C A TCGA-EB-A44Q-06A-11D-A25O-08 TCGA-EB-A44Q-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A 0C93A238-4BAE-4C54-90C2-14A8C1E3995C g.chr2:9083352C>A ENST00000305997.3 - 3 461 c.263G>T c.(262-264)tGt>tTt p.C88F MBOAT2_ENST00000486484.1_5'UTR NM_138799.2 NP_620154.2 Q6ZWT7 MBOA2_HUMAN membrane bound O-acyltransferase domain containing 2 88 phospholipid biosynthetic process integral to membrane 1-acylglycerol-3-phosphate O-acyltransferase activity MBOAT2/PRKCE(2) endometrium(2)|kidney(1)|large_intestine(9)|lung(2)|skin(1) 15 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) GATCATGATACAGTAGGAAAT 0.343000 3 35 1 1 1 1 0 DDX11L1 100287102 broad.mit.edu 37 1 13273 13273 + RNA SNP G G C TCGA-EB-A44Q-06A-11D-A25O-08 TCGA-EB-A44Q-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A 0C93A238-4BAE-4C54-90C2-14A8C1E3995C g.chr1:13273G>C ENST00000456328.2 + 0 521 NR_046018.2|NR_051986.1 TCCTGGACCAGTGATACACCC 0.582000 4 5 0 0 1 0 0 GCN1L1 10985 broad.mit.edu 37 12 120583078 120583078 + Silent SNP G G A TCGA-EB-A44Q-06A-11D-A25O-08 TCGA-EB-A44Q-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A 0C93A238-4BAE-4C54-90C2-14A8C1E3995C g.chr12:120583078G>A ENST00000300648.6 - 39 5016 c.5004C>T c.(5002-5004)gaC>gaT p.D1668D NM_006836.1 NP_006827.1 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 1-like 1 (yeast) 1668 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 94 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CAGGCACAGGGTCCAAAAGCG 0.602000 10 47 0 0 1 0 0 NRAS 4893 broad.mit.edu 37 1 115256529 115256529 + Missense_Mutation SNP T T A rs11554290 TCGA-EB-A44Q-06A-11D-A25O-08 TCGA-EB-A44Q-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A 0C93A238-4BAE-4C54-90C2-14A8C1E3995C g.chr1:115256529T>A ENST00000369535.4 - 3 435 c.182A>T c.(181-183)cAa>cTa p.Q61L NM_002524.4 NP_002515.1 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene homolog 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). 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 Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GTACTCTTCTTGTCCAGCTGT 0.458000 Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 50 61 0 0 1 0 0 DTD1 92675 broad.mit.edu 37 20 18576794 18576794 + Silent SNP C C T TCGA-EB-A44Q-06A-11D-A25O-08 TCGA-EB-A44Q-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A 0C93A238-4BAE-4C54-90C2-14A8C1E3995C g.chr20:18576794C>T ENST00000377452.3 + 3 459 c.279C>T c.(277-279)ttC>ttT p.F93F DTD1_ENST00000494921.1_3'UTR NM_080820.4 NP_543010.3 Q8TEA8 DTD1_HUMAN D-tyrosyl-tRNA deacylase 1 93 D-amino acid catabolic process cytoplasm hydrolase activity, acting on ester bonds large_intestine(4)|lung(1)|ovary(2) 7 AGCCTGATTTCCACCTAGCAA 0.522000 14 27 0 0 1 0 0 TP53I13 90313 broad.mit.edu 37 17 27899412 27899412 + Missense_Mutation SNP C C T TCGA-EB-A44Q-06A-11D-A25O-08 TCGA-EB-A44Q-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A 0C93A238-4BAE-4C54-90C2-14A8C1E3995C g.chr17:27899412C>T ENST00000301057.7 + 6 881 c.766C>T c.(766-768)Ccg>Tcg p.P256S RP11-68I3.2_ENST00000581474.1_RNA NM_138349.2 NP_612358.3 Q8NBR0 P5I13_HUMAN tumor protein p53 inducible protein 13 256 cytoplasm|integral to membrane|plasma membrane NS(1)|kidney(1)|lung(1)|urinary_tract(1) 4 READ - Rectum adenocarcinoma(3;0.236) CTCCCTGCTGCCGGGGGCGCC 0.647000 15 45 0 0 1 0 0 OTOF 9381 broad.mit.edu 37 2 26698274 26698274 + Missense_Mutation SNP C C T TCGA-EB-A44Q-06A-11D-A25O-08 TCGA-EB-A44Q-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A 0C93A238-4BAE-4C54-90C2-14A8C1E3995C g.chr2:26698274C>T ENST00000272371.2 - 25 3205 c.3079G>A c.(3079-3081)Gac>Aac p.D1027N OTOF_ENST00000403946.3_Missense_Mutation_p.D1027N|OTOF_ENST00000339598.3_Missense_Mutation_p.D280N|OTOF_ENST00000402415.3_Missense_Mutation_p.D337N|OTOF_ENST00000338581.6_Missense_Mutation_p.D280N NM_194248.2 NP_919224.1 Q9HC10 OTOF_HUMAN otoferlin 1027 C2 3. cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding p.D280N(1)|p.D1027N(1) NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 106 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGCGGATCGTCCCTCAGCTCA 0.572000 9 35 0 0 1 0 0 TMPRSS2 7113 broad.mit.edu 37 21 42843894 42843894 + Missense_Mutation SNP G G A TCGA-EB-A44Q-06A-11D-A25O-08 TCGA-EB-A44Q-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A 0C93A238-4BAE-4C54-90C2-14A8C1E3995C g.chr21:42843894G>A ENST00000398585.3 - 10 1085 c.1025C>T c.(1024-1026)cCa>cTa p.P342L TMPRSS2_ENST00000458356.1_Missense_Mutation_p.P305L|TMPRSS2_ENST00000332149.5_Missense_Mutation_p.P305L NM_001135099.1 NP_001128571.1 O15393 TMPS2_HUMAN transmembrane protease, serine 2 305 Peptidase S1. proteolysis cytoplasm|extracellular region|integral to plasma membrane scavenger receptor activity|serine-type endopeptidase activity TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13) central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 4 Prostate(19;4.48e-07)|all_epithelial(19;0.031) CCAATGCCATGGATTGTTAAG 0.448000 T """ERG, ETV1, ETV4, ETV5""" prostate 14 19 0 0 1 0 0 MINA 84864 broad.mit.edu 37 3 97677915 97677915 + Missense_Mutation SNP C C G TCGA-EB-A44Q-06A-11D-A25O-08 TCGA-EB-A44Q-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A 0C93A238-4BAE-4C54-90C2-14A8C1E3995C g.chr3:97677915C>G ENST00000333396.6 - 4 1243 c.661G>C c.(661-663)Gtg>Ctg p.V221L MINA_ENST00000330299.2_Missense_Mutation_p.V221L|MINA_ENST00000394198.2_Missense_Mutation_p.V221L|MINA_ENST00000360258.4_Missense_Mutation_p.V221L NM_001042533.2|NM_032778.5 NP_001035998.1|NP_116167.3 Q8IUF8 MINA_HUMAN MYC induced nuclear antigen 221 JmjC. V -> A (in Ref. 1; BAC16359). ribosome biogenesis cytoplasm|nucleolus breast(2)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1) 13 AACTCATGCACCGGCCTGCCG 0.557000 8 27 0 0 1 0 0 PALMD 54873 broad.mit.edu 37 1 100152488 100152488 + Silent SNP T T C TCGA-EB-A44Q-06A-11D-A25O-08 TCGA-EB-A44Q-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A 0C93A238-4BAE-4C54-90C2-14A8C1E3995C g.chr1:100152488T>C ENST00000263174.4 + 5 744 c.369T>C c.(367-369)tcT>tcC p.S123S PALMD_ENST00000605497.1_Silent_p.S123S NM_017734.4 NP_060204.1 Q9NP74 PALMD_HUMAN palmdelphin 123 regulation of cell shape cytoplasm|membrane central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2) 31 all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216) Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201) TCTTACAGTCTGTGAAAGTGG 0.259000 6 20 0 0 1 0 0 DSG3 1830 broad.mit.edu 37 18 29056182 29056182 + Missense_Mutation SNP A A G TCGA-EB-A44Q-06A-11D-A25O-08 TCGA-EB-A44Q-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A 0C93A238-4BAE-4C54-90C2-14A8C1E3995C g.chr18:29056182A>G ENST00000257189.4 + 16 3042 c.2959A>G c.(2959-2961)Act>Gct p.T987A NM_001944.2 NP_001935.2 P32926 DSG3_HUMAN desmoglein 3 987 cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(10;0.00504) AGGGTCACATACTATGCTCTG 0.463000 40 63 0 0 1 0 0 KRTAP5-3 387266 broad.mit.edu 37 11 1629538 1629538 + Silent SNP G G A TCGA-EB-A44Q-06A-11D-A25O-08 TCGA-EB-A44Q-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A 0C93A238-4BAE-4C54-90C2-14A8C1E3995C g.chr11:1629538G>A ENST00000399685.1 - 1 155 c.78C>T c.(76-78)tcC>tcT p.S26S NM_001012708.2 NP_001012726.1 Q6L8H2 KRA53_HUMAN keratin associated protein 5-3 26 keratin filament endometrium(1)|large_intestine(2)|lung(3)|ovary(2) 8 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822) CCCCATAGCCGGAGCCACAGC 0.662000 58 94 0 0 1 0 0 TLL1 7092 broad.mit.edu 37 4 166981296 166981296 + Silent SNP A A C TCGA-EB-A44Q-06A-11D-A25O-08 TCGA-EB-A44Q-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A 0C93A238-4BAE-4C54-90C2-14A8C1E3995C g.chr4:166981296A>C ENST00000061240.2 + 15 2610 c.1963A>C c.(1963-1965)Aga>Cga p.R655R TLL1_ENST00000507499.1_Silent_p.R678R NM_012464.4 NP_036596.3 O43897 TLL1_HUMAN tolloid-like 1 655 CUB 3. cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding p.R655*(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) AACCCAGTACAGAATTTCTGT 0.418000 9 24 0 0 1 0 0 SUZ12 23512 broad.mit.edu 37 17 30325676 30325676 + Splice_Site SNP G G T TCGA-EB-A44Q-06A-11D-A25O-08 TCGA-EB-A44Q-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A 0C93A238-4BAE-4C54-90C2-14A8C1E3995C g.chr17:30325676G>T ENST00000322652.5 + 16 2103 c.e16-1 SUZ12_ENST00000580398.1_Splice_Site NM_015355.2 NP_056170.2 Q15022 SUZ12_HUMAN SUZ12 polycomb repressive complex 2 subunit negative regulation of cell differentiation|transcription, DNA-dependent ESC/E(Z) complex histone methyltransferase activity|methylated histone residue binding|zinc ion binding SSH2/SUZ12(2)|JAZF1/SUZ12(133) breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1) 21 Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231) TTATTAAATAGGTTTATTGCT 0.274000 T JAZF1 endometrial stromal tumours 3 8 0.115264 0.116843 1 1 0 KRT78 196374 broad.mit.edu 37 12 53241809 53241809 + Missense_Mutation SNP C C G TCGA-EB-A44Q-06A-11D-A25O-08 TCGA-EB-A44Q-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A 0C93A238-4BAE-4C54-90C2-14A8C1E3995C g.chr12:53241809C>G ENST00000359499.4 - 2 162 c.151G>C c.(151-153)Gtc>Ctc p.V51L KRT78_ENST00000304620.4_Missense_Mutation_p.V161L Q8N1N4 K2C78_HUMAN keratin 78 161 Gly-rich.|Head. keratin filament protein binding|structural molecule activity endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 18 GCCTCAAAGACAGGCTCCAGG 0.627000 5 31 0 0 1 0 0 SIPA1L2 57568 broad.mit.edu 37 1 232649623 232649623 + Missense_Mutation SNP C C T TCGA-EB-A44Q-06A-11D-A25O-08 TCGA-EB-A44Q-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A 0C93A238-4BAE-4C54-90C2-14A8C1E3995C g.chr1:232649623C>T ENST00000366630.1 - 2 1821 c.1463G>A c.(1462-1464)cGc>cAc p.R488H SIPA1L2_ENST00000262861.4_Missense_Mutation_p.R488H Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 2 488 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 103 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) GAAGAATTTGCGGTAATAATA 0.453000 4 117 0 0 1 0 0 AVIL 10677 broad.mit.edu 37 12 58197150 58197150 + Silent SNP G G T TCGA-EB-A44Q-06A-11D-A25O-08 TCGA-EB-A44Q-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A 0C93A238-4BAE-4C54-90C2-14A8C1E3995C g.chr12:58197150G>T ENST00000537081.1 - 15 1820 c.1821C>A c.(1819-1821)gtC>gtA p.V607V AVIL_ENST00000257861.3_Silent_p.V614V|AVIL_ENST00000550083.1_5'UTR|TSFM_ENST00000548851.1_Intron O75366 AVIL_HUMAN advillin 614 Core (By similarity). actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development actin cytoskeleton|axon|cytoplasm actin binding autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6) 32 Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) GACGAGACTGGACATCTAGGA 0.433000 OREG0021955 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 29 635 1.99505e-19 2.30678e-19 1 1 0 ABCC9 10060 broad.mit.edu 37 12 21995254 21995254 + Missense_Mutation SNP G G A TCGA-EB-A44Q-06A-11D-A25O-08 TCGA-EB-A44Q-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A 0C93A238-4BAE-4C54-90C2-14A8C1E3995C g.chr12:21995254G>A ENST00000261200.4 - 27 3466 c.3467C>T c.(3466-3468)gCc>gTc p.A1156V ABCC9_ENST00000261201.4_Missense_Mutation_p.A1156V|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000345162.2_Missense_Mutation_p.A1120V NM_020297.2 NP_064693.2 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 9 1156 ABC transmembrane type-1 2. defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5) 118 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) TTACTTAGAGGCAACCCGAAA 0.413000 5 13 0 0 1 0 0 RPL11 6135 broad.mit.edu 37 1 24019189 24019189 + Missense_Mutation SNP C C A rs144975829 TCGA-EB-A44Q-06A-11D-A25O-08 TCGA-EB-A44Q-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A 0C93A238-4BAE-4C54-90C2-14A8C1E3995C g.chr1:24019189C>A ENST00000374550.3 + 2 142 c.97C>A c.(97-99)Ctg>Atg p.L33M RPL11_ENST00000482370.1_3'UTR NM_000975.3|NM_001199802.1 NP_000966.2|NP_001186731.1 P62913 RL11_HUMAN ribosomal protein L11 33 endocrine pancreas development|protein localization to nucleus|protein targeting|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleolus protein binding|rRNA binding|structural constituent of ribosome central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2) 6 Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185) TGGAGACAGACTGACGCGAGC 0.547000 43 101 1.8453e-21 2.16749e-21 1 1 0 USP7 7874 broad.mit.edu 37 16 8996279 8996279 + Nonsense_Mutation SNP G G A TCGA-EB-A44Q-06A-11D-A25O-08 TCGA-EB-A44Q-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A 0C93A238-4BAE-4C54-90C2-14A8C1E3995C g.chr16:8996279G>A ENST00000344836.4 - 17 2098 c.1900C>T c.(1900-1902)Cga>Tga p.R634* USP7_ENST00000535863.1_Nonsense_Mutation_p.R535*|USP7_ENST00000381886.4_Nonsense_Mutation_p.R618* NM_003470.2 NP_003461.2 Q93009 UBP7_HUMAN ubiquitin specific peptidase 7 (herpes virus-associated) 634 Interaction with ICP0/VMW110. interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process cytoplasm|PML body cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 48 ATTGCTGGTCGTTTTGTTCCA 0.388000 4 21 0 0 1 0 0 DCAF12L2 340578 broad.mit.edu 37 X 125299816 125299816 + Missense_Mutation SNP G G C TCGA-EB-A44Q-06A-11D-A25O-08 TCGA-EB-A44Q-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A 0C93A238-4BAE-4C54-90C2-14A8C1E3995C g.chrX:125299816G>C ENST00000538699.1 - 2 172 c.92C>G c.(91-93)gCg>gGg p.A31G DCAF12L2_ENST00000360028.2_Missense_Mutation_p.A31G NM_001013628.2 NP_001013650.1 Q5VW00 DC122_HUMAN DDB1 and CUL4 associated factor 12-like 2 31 NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3) 64 CTCTCCGTCCGCCGCCGCTAA 0.701000 3 29 0 0 1 0 0 FMN2 56776 broad.mit.edu 37 1 240371373 240371373 + Silent SNP A A T TCGA-EB-A44Q-06A-11D-A25O-08 TCGA-EB-A44Q-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A 0C93A238-4BAE-4C54-90C2-14A8C1E3995C g.chr1:240371373A>T ENST00000319653.9 + 5 3491 c.3261A>T c.(3259-3261)ccA>ccT p.P1087P NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 1087 FH1.|Pro-rich. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) GCATACCCCCACCTCCCCCTC 0.726000 3 19 0 0 1 0 0 KRT78 196374 broad.mit.edu 37 12 53241731 53241731 + Missense_Mutation SNP A A T TCGA-EB-A44Q-06A-11D-A25O-08 TCGA-EB-A44Q-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A 0C93A238-4BAE-4C54-90C2-14A8C1E3995C g.chr12:53241731A>T ENST00000359499.4 - 2 240 c.229T>A c.(229-231)Ttg>Atg p.L77M KRT78_ENST00000304620.4_Missense_Mutation_p.L187M Q8N1N4 K2C78_HUMAN keratin 78 187 Gly-rich.|Head. keratin filament protein binding|structural molecule activity endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 18 CAGGCCTTCAACTCAGCATCC 0.602000 9 48 0 0 1 0 0 LCE1F 353137 broad.mit.edu 37 1 152748927 152748927 + Missense_Mutation SNP C C T TCGA-EB-A44Q-06A-11D-A25O-08 TCGA-EB-A44Q-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A 0C93A238-4BAE-4C54-90C2-14A8C1E3995C g.chr1:152748927C>T ENST00000334371.2 + 1 80 c.80C>T c.(79-81)cCg>cTg p.P27L NM_178354.2 NP_848131.1 Q5T754 LCE1F_HUMAN late cornified envelope 1F 27 Pro-rich. keratinization kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) tgccccacaccgaagtgcccc 0.657000 24 64 0 0 1 0 0 ZNF711 7552 broad.mit.edu 37 X 84525723 84525723 + Missense_Mutation SNP T T G TCGA-EB-A44Q-06A-11D-A25O-08 TCGA-EB-A44Q-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A 0C93A238-4BAE-4C54-90C2-14A8C1E3995C g.chrX:84525723T>G ENST00000360700.4 + 10 2199 c.1313T>G c.(1312-1314)tTt>tGt p.F438C ZNF711_ENST00000395402.1_Missense_Mutation_p.F400C|ZNF711_ENST00000542798.1_Missense_Mutation_p.F234C|ZNF711_ENST00000276123.3_Missense_Mutation_p.F392C|ZNF711_ENST00000373165.3_Missense_Mutation_p.F392C Q9Y462 ZN711_HUMAN zinc finger protein 711 392 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4) 28 ACAAAAAAGTTTAAATCCAGG 0.353000 8 10 0 0 1 0 0 POLL 27343 broad.mit.edu 37 10 103347150 103347150 + Translation_Start_Site SNP G G A TCGA-EB-A44Q-06A-11D-A25O-08 TCGA-EB-A44Q-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A 0C93A238-4BAE-4C54-90C2-14A8C1E3995C g.chr10:103347150G>A ENST00000370162.3 - 0 462 DPCD_ENST00000470165.1_3'UTR|POLL_ENST00000370172.1_Intron|POLL_ENST00000299206.4_De_novo_Start_OutOfFrame|POLL_ENST00000456836.2_De_novo_Start_OutOfFrame|POLL_ENST00000436284.2_Intron|POLL_ENST00000370158.3_De_novo_Start_OutOfFrame|DPCD_ENST00000416979.2_De_novo_Start_OutOfFrame|POLL_ENST00000370169.1_De_novo_Start_OutOfFrame|POLL_ENST00000339310.3_De_novo_Start_OutOfFrame NM_001174084.1|NM_001174085.1|NM_013274.3 NP_001167555.1|NP_001167556.1|NP_037406.1 Q9UGP5 DPOLL_HUMAN polymerase (DNA directed), lambda DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes nucleus DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2) 19 Colorectal(252;0.234) Epithelial(162;1.55e-08)|all cancers(201;6.64e-07) CTATTGGAGCGTTGGTCAGGG 0.532000 DNA polymerases (catalytic subunits) 12 23 0 0 1 0 0 MYH11 4629 broad.mit.edu 37 16 15931838 15931838 + Missense_Mutation SNP G G A TCGA-EB-A44Q-06A-11D-A25O-08 TCGA-EB-A44Q-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A 0C93A238-4BAE-4C54-90C2-14A8C1E3995C g.chr16:15931838G>A ENST00000338282.6 - 2 378 c.272C>T c.(271-273)gCg>gTg p.A91V MYH11_ENST00000576790.1_Missense_Mutation_p.A91V|MYH11_ENST00000300036.5_Missense_Mutation_p.A91V|MYH11_ENST00000396324.3_Missense_Mutation_p.A91V|MYH11_ENST00000452625.2_Missense_Mutation_p.A91V NM_022844.2 NP_074035.1 P35749 MYH11_HUMAN myosin, heavy chain 11, smooth muscle 91 Myosin head-like. axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1) 123 CGTCAGCTCCGCCATGTCCTC 0.542000 T CBFB AML 13 64 0 0 1 0 0 LHFPL2 10184 broad.mit.edu 37 5 77805791 77805791 + Silent SNP G G A TCGA-EB-A44Q-06A-11D-A25O-08 TCGA-EB-A44Q-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A 0C93A238-4BAE-4C54-90C2-14A8C1E3995C g.chr5:77805791G>A ENST00000380345.2 - 4 921 c.246C>T c.(244-246)tgC>tgT p.C82C LHFPL2_ENST00000515007.2_Silent_p.C82C NM_005779.2 NP_005770.1 Q6ZUX7 LHPL2_HUMAN lipoma HMGIC fusion partner-like 2 82 integral to membrane endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1) 6 all_lung(232;0.000409)|Lung NSC(167;0.00108)|Ovarian(174;0.0107)|Prostate(461;0.218) OV - Ovarian serous cystadenocarcinoma(54;6.48e-46)|Epithelial(54;8.43e-42)|all cancers(79;1.42e-36) CGTAGGGCCCGCACAGCGTGT 0.667000 5 9 0 0 1 0 0 SLC38A4 55089 broad.mit.edu 37 12 47181792 47181792 + Missense_Mutation SNP C C T TCGA-EB-A44Q-06A-11D-A25O-08 TCGA-EB-A44Q-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A 0C93A238-4BAE-4C54-90C2-14A8C1E3995C g.chr12:47181792C>T ENST00000447411.1 - 4 439 c.233G>A c.(232-234)gGa>gAa p.G78E SLC38A4_ENST00000266579.4_Missense_Mutation_p.G78E NM_001143824.1 NP_001137296.1 Q969I6 S38A4_HUMAN solute carrier family 38, member 4 78 cellular nitrogen compound metabolic process|sodium ion transport integral to membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1) 21 Lung SC(27;0.192)|Renal(347;0.236) TGAAGACATTCCAAAGGAAGT 0.428000 23 60 0 0 1 0 0 ITGAD 3681 broad.mit.edu 37 16 31424258 31424258 + Missense_Mutation SNP G G T TCGA-EB-A44Q-06A-11D-A25O-08 TCGA-EB-A44Q-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A 0C93A238-4BAE-4C54-90C2-14A8C1E3995C g.chr16:31424258G>T ENST00000389202.2 + 15 1856 c.1807G>T c.(1807-1809)Gtg>Ttg p.V603L NM_005353.2 NP_005344.2 Q13349 ITAD_HUMAN integrin, alpha D 603 cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway integrin complex receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 GGACCTGGCCGTGGGGGCCCG 0.677000 17 36 0.0332995 0.0347065 1 1 0 TRIO 7204 broad.mit.edu 37 5 14474120 14474120 + Missense_Mutation SNP G G T TCGA-EB-A44Q-06A-11D-A25O-08 TCGA-EB-A44Q-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A 0C93A238-4BAE-4C54-90C2-14A8C1E3995C g.chr5:14474120G>T ENST00000344204.4 + 40 6021 c.5997G>T c.(5995-5997)atG>atT p.M1999I TRIO_ENST00000537187.1_Missense_Mutation_p.M1999I NM_007118.2 NP_009049.2 O75962 TRIO_HUMAN trio Rho guanine nucleotide exchange factor 1999 DH 2. apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 118 Lung NSC(4;0.000742) TGGCACTTATGAAAGAAGATG 0.378000 15 181 2.32078e-09 2.60209e-09 1 1 0 USP34 9736 broad.mit.edu 37 2 61430335 61430335 + Missense_Mutation SNP G G C TCGA-EB-A44Q-06A-11D-A25O-08 TCGA-EB-A44Q-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A 0C93A238-4BAE-4C54-90C2-14A8C1E3995C g.chr2:61430335G>C ENST00000398571.2 - 75 9524 c.9448C>G c.(9448-9450)Cat>Gat p.H3150D NM_014709.3 NP_055524.3 Q70CQ2 UBP34_HUMAN ubiquitin specific peptidase 34 3150 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2) 138 Epithelial(17;0.229) CATAATAGATGGATGAACTGA 0.328000 16 34 0 0 1 0 0 TRIO 7204 broad.mit.edu 37 5 14472745 14472745 + Missense_Mutation SNP G G A TCGA-EB-A44Q-06A-11D-A25O-08 TCGA-EB-A44Q-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A 0C93A238-4BAE-4C54-90C2-14A8C1E3995C g.chr5:14472745G>A ENST00000344204.4 + 39 5981 c.5957G>A c.(5956-5958)cGg>cAg p.R1986Q TRIO_ENST00000537187.1_Missense_Mutation_p.R1986Q NM_007118.2 NP_009049.2 O75962 TRIO_HUMAN trio Rho guanine nucleotide exchange factor 1986 DH 2. apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 118 Lung NSC(4;0.000742) GACTATGTGCGGGACCTTGGC 0.373000 16 273 0 0 1 0 0 ATP6V0A2 23545 broad.mit.edu 37 12 124229192 124229192 + Silent SNP C C T TCGA-EB-A44Q-06A-11D-A25O-08 TCGA-EB-A44Q-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A 0C93A238-4BAE-4C54-90C2-14A8C1E3995C g.chr12:124229192C>T ENST00000330342.3 + 12 1623 c.1375C>T c.(1375-1377)Ctg>Ttg p.L459L NM_012463.3 NP_036595.2 Q9Y487 VPP2_HUMAN ATPase, H+ transporting, lysosomal V0 subunit a2 459 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain hydrogen ion transmembrane transporter activity|protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 26 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775) GCTGATGGGGCTGTTCTCAGT 0.527000 13 239 0 0 1 0 0 RNF215 200312 broad.mit.edu 37 22 30780394 30780394 + Silent SNP G G A TCGA-EB-A44Q-06A-11D-A25O-08 TCGA-EB-A44Q-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A 0C93A238-4BAE-4C54-90C2-14A8C1E3995C g.chr22:30780394G>A ENST00000382363.3 - 5 752 c.678C>T c.(676-678)ctC>ctT p.L226L NM_001017981.1 NP_001017981.1 Q9Y6U7 RN215_HUMAN ring finger protein 215 226 integral to membrane zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2) 6 CATCCTTGGAGAGGCCACAGG 0.607000 14 39 0 0 1 0 0 SPATA31D4 389761 broad.mit.edu 37 9 84549507 84549507 + RNA SNP C C T TCGA-EB-A44Q-06A-11D-A25O-08 TCGA-EB-A44Q-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A 0C93A238-4BAE-4C54-90C2-14A8C1E3995C g.chr9:84549507C>T ENST00000585776.1 - 0 1039 SPATA31D4_ENST00000341875.4_RNA GGGCTATCCCCGCAACTACAC 0.507000 7 9 0 0 1 0 0 DGKI 9162 broad.mit.edu 37 7 137363356 137363356 + Missense_Mutation SNP C C T TCGA-EB-A44Q-06A-11D-A25O-08 TCGA-EB-A44Q-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A 0C93A238-4BAE-4C54-90C2-14A8C1E3995C g.chr7:137363356C>T ENST00000424189.2 - 3 782 c.553G>A c.(553-555)Gtc>Atc p.V185I DGKI_ENST00000453654.1_5'UTR|DGKI_ENST00000288490.5_Missense_Mutation_p.V185I|DGKI_ENST00000446122.1_Missense_Mutation_p.V185I O75912 DGKI_HUMAN diacylglycerol kinase, iota 185 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 TCTCCCGAGACGTTGGTCTCC 0.507000 29 180 0 0 1 0 0 CTAG2 30848 broad.mit.edu 37 X 153880426 153880426 + Missense_Mutation SNP C C G TCGA-EB-A44Q-06A-11D-A25O-08 TCGA-EB-A44Q-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A 0C93A238-4BAE-4C54-90C2-14A8C1E3995C g.chrX:153880426C>G ENST00000369585.3 - 3 572 c.520G>C c.(520-522)Gct>Cct p.A174P CTAG2_ENST00000247306.4_3'UTR NM_172377.3 NP_758965.1 O75638 CTAG2_HUMAN cancer/testis antigen 2 0 centrosome central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1) 10 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CCTGAGGGAGCCTGAGCCAAA 0.602000 4 11 0 0 1 0 0 MRVI1 10335 broad.mit.edu 37 11 10626023 10626023 + Missense_Mutation SNP C C A TCGA-EB-A44Q-06A-11D-A25O-08 TCGA-EB-A44Q-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A 0C93A238-4BAE-4C54-90C2-14A8C1E3995C g.chr11:10626023C>A ENST00000547195.1 - 12 1899 c.1399G>T c.(1399-1401)Gct>Tct p.A467S MRVI1_ENST00000421747.1_Missense_Mutation_p.A549S|MRVI1_ENST00000436272.1_Missense_Mutation_p.A531S|MRVI1_ENST00000423302.2_Missense_Mutation_p.A558S|MRVI1_ENST00000545852.1_Missense_Mutation_p.A243S|MRVI1_ENST00000531107.1_Missense_Mutation_p.A550S|MRVI1_ENST00000552103.1_Missense_Mutation_p.A467S|MRVI1_ENST00000424001.1_Missense_Mutation_p.A243S|MRVI1_ENST00000558540.1_Missense_Mutation_p.A243S|MRVI1_ENST00000534266.2_Missense_Mutation_p.A243S|MRVI1_ENST00000541483.1_Missense_Mutation_p.A352S|LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000527509.2_Missense_Mutation_p.A467S NM_001100163.2|NM_001206881.1 NP_001093633.1|NP_001193810.1 Q9Y6F6 MRVI1_HUMAN murine retrovirus integration site 1 homolog 531 platelet activation endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2) 22 all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723) TCCCTTTCAGCCTGGTTAATT 0.463000 4 36 0.00909568 0.00961543 1 1 0 GCN1L1 10985 broad.mit.edu 37 12 120580428 120580428 + Silent SNP G G T TCGA-EB-A44Q-06A-11D-A25O-08 TCGA-EB-A44Q-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A 0C93A238-4BAE-4C54-90C2-14A8C1E3995C g.chr12:120580428G>T ENST00000300648.6 - 44 5724 c.5712C>A c.(5710-5712)tcC>tcA p.S1904S NM_006836.1 NP_006827.1 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 1-like 1 (yeast) 1904 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 94 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) AGACATGCAGGGACGCCTGCC 0.627000 15 77 2.23348e-06 2.43056e-06 1 1 0 CIC 23152 broad.mit.edu 37 19 42795785 42795785 + Missense_Mutation SNP C C G TCGA-EB-A44Q-06A-11D-A25O-08 TCGA-EB-A44Q-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A 0C93A238-4BAE-4C54-90C2-14A8C1E3995C g.chr19:42795785C>G ENST00000572681.2 + 12 5569 c.5501C>G c.(5500-5502)cCt>cGt p.P1834R CIC_ENST00000160740.3_Missense_Mutation_p.P925R|CIC_ENST00000575354.2_Missense_Mutation_p.P925R Q96RK0 CIC_HUMAN capicua transcriptional repressor 925 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) GTCCTAGTGCCTCTGGCCGCC 0.662000 """Mis, F, S""" oligodendroglioma 51 95 0 0 1 0 0 NPY4R 5540 broad.mit.edu 37 10 47087305 47087305 + Silent SNP C C T TCGA-EB-A44Q-06A-11D-A25O-08 TCGA-EB-A44Q-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A 0C93A238-4BAE-4C54-90C2-14A8C1E3995C g.chr10:47087305C>T ENST00000374312.1 + 3 941 c.522C>T c.(520-522)ttC>ttT p.F174F NPY4R_ENST00000395716.1_Silent_p.F174F NM_005972.4 NP_005963.3 neuropeptide Y receptor Y4 CCCTGCCCTTCCTGGCCAACA 0.572000 14 68 0 0 1 0 0 SEMA4A 64218 broad.mit.edu 37 1 156132735 156132735 + Splice_Site SNP G G A TCGA-EB-A44Q-06A-11D-A25O-08 TCGA-EB-A44Q-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A 0C93A238-4BAE-4C54-90C2-14A8C1E3995C g.chr1:156132735G>A ENST00000368285.3 + 10 1251 c.983_splice c.e10-1 p.W328_splice SEMA4A_ENST00000355014.2_Splice_Site_p.W328_splice|SEMA4A_ENST00000368286.2_Splice_Site_p.W196_splice|SEMA4A_ENST00000487358.1_3'UTR|SEMA4A_ENST00000368284.1_Splice_Site_p.W196_splice|SEMA4A_ENST00000368282.1_Splice_Site_p.W328_splice NM_001193300.1|NM_022367.3 NP_001180229.1|NP_071762.2 Q9H3S1 SEM4A_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A 328 Sema. CTQPGQLPFNVIRHAVLLPADSPTAPHIYAVFTSQW -> S APSRGSCPSTSSATRSCSPPILPQLPTSTQSSPPSG (in Ref. 1). axon guidance integral to membrane|plasma membrane receptor activity breast(1)|ovary(2)|skin(2) 5 Hepatocellular(266;0.158) CTGTCTCCAGGCAGGTTGGCG 0.532000 11 35 0 0 1 0 0 PAN2 9924 broad.mit.edu 37 12 56721416 56721416 + Splice_Site SNP C C T TCGA-EB-A44Q-06A-11D-A25O-08 TCGA-EB-A44Q-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A 0C93A238-4BAE-4C54-90C2-14A8C1E3995C g.chr12:56721416C>T ENST00000425394.2 - 6 1028 c.e6-1 PAN2_ENST00000440411.3_Splice_Site|PAN2_ENST00000257931.5_Splice_Site|PAN2_ENST00000548043.1_Splice_Site NM_001127460.2 NP_001120932.1 Q504Q3 PAN2_HUMAN PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process cytosol|nucleus nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 TCAGGGAAACCTAGAAAAAAA 0.443000 49 82 0 0 1 0 0 C8orf82 414919 broad.mit.edu 37 8 145754151 145754152 + In_Frame_Ins INS - - TGGTGGTCCACG TCGA-EB-A44Q-06A-11D-A25O-08 TCGA-EB-A44Q-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A 0C93A238-4BAE-4C54-90C2-14A8C1E3995C g.chr8:145754151_145754152insTGGTGGTCCACG ENST00000524821.1 - 1 364_365 c.149_150insCGTGGACCACCA c.(148-150)cgg>cCGTGGACCACCAgg p.49_50insPWTT C8orf82_ENST00000313465.5_In_Frame_Ins_p.49_50insPWTT Q6P1X6 CH082_HUMAN chromosome 8 open reading frame 82 49 endometrium(1)|urinary_tract(1) 2 CCACCTGGCCCTGGTGGTCCAC 0.748 3 5 --- --- --- --- RP11-34D15.2 0 broad.mit.edu 37 10 102104601 102104601 + RNA DEL T T - TCGA-EB-A44Q-06A-11D-A25O-08 TCGA-EB-A44Q-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A 0C93A238-4BAE-4C54-90C2-14A8C1E3995C g.chr10:102104601delT ENST00000429420.1 - 0 103 AAAATCACAAttttttttttt 0.403 2 4 --- --- --- --- DIP2B 57609 broad.mit.edu 37 12 51102305 51102305 + Frame_Shift_Del DEL C C - TCGA-EB-A44Q-06A-11D-A25O-08 TCGA-EB-A44Q-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A 0C93A238-4BAE-4C54-90C2-14A8C1E3995C g.chr12:51102305delC ENST00000301180.5 + 22 2643 c.2609delC c.(2608-2610)ttfs p.S870fs NM_173602.2 NP_775873.2 Q9P265 DIP2B_HUMAN DIP2 disco-interacting protein 2 homolog B (Drosophila) 870 nucleus catalytic activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2) 60 CCTGATGCTTCTGAGGAAGAT 0.488 4 7 --- --- --- --- MYO1H 283446 broad.mit.edu 37 12 109874361 109874361 + Splice_Site DEL G G - TCGA-EB-A44Q-06A-11D-A25O-08 TCGA-EB-A44Q-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A 0C93A238-4BAE-4C54-90C2-14A8C1E3995C g.chr12:109874361delG ENST00000310903.5 + 22 2267 c.2161_splice c.e22+1 p.A721_splice MYO1H_ENST00000431443.2_Splice_Site_p.A731_splice B4DNW6 B4DNW6_HUMAN myosin IH 0 myosin complex motor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 47 AAGACAAGCAGGTAAGAATTA 0.413 2 4 --- --- --- --- WDR81 124997 broad.mit.edu 37 17 1631341 1631343 + In_Frame_Del DEL GAG GAG - rs66598941 TCGA-EB-A44Q-06A-11D-A25O-08 TCGA-EB-A44Q-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A 0C93A238-4BAE-4C54-90C2-14A8C1E3995C g.chr17:1631341_1631343delGAG ENST00000409644.1 + 1 3088_3090 c.3088_3090delGAG c.(3088-3090)del p.E1033del WDR81_ENST00000437219.2_Intron|WDR81_ENST00000446363.1_Intron|WDR81_ENST00000419248.1_Intron|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000309182.5_5'UTR NM_001163809.1 NP_001157281.1 B3KXU1 B3KXU1_HUMAN WD repeat domain 81 305 cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1) 16 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) AGGGGCTGCTGAGGAGGAGGAGA 0.695 3 4 --- --- --- --- GSTT2 2953 broad.mit.edu 37 22 24323152 24323153 + Frame_Shift_Ins INS - - A TCGA-EB-A44Q-06A-11D-A25O-08 TCGA-EB-A44Q-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4B6EB0EB-C921-4CA2-9107-242EC8A2ED0A 0C93A238-4BAE-4C54-90C2-14A8C1E3995C g.chr22:24323152_24323153insA ENST00000215780.5 + 2 176_177 c.126_127insA c.(124-129)agaggafs p.G43fs GSTT2_ENST00000402588.3_Frame_Shift_Ins_p.G43fs NM_000854.3 NP_000845.1 P0CG30 GSTT2_HUMAN glutathione S-transferase theta 2 43 GST N-terminal. cytoplasm glutathione transferase activity lung(1) 1 AGCACAAGAGCAAGGAGTTCTT 0.559 12 74 --- --- --- ---