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 ITSN1 6453 broad.mit.edu 37 21 35147397 35147397 + Silent SNP A A G TCGA-69-7761-01A-11D-2167-08 TCGA-69-7761-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3986bd8-e8b0-4bcf-b850-abcbac67485f e5f8e6d1-e696-4867-9857-6ef6b9a05262 g.chr21:35147397A>G ENST00000381318.3 + 14 1869 c.1581A>G c.(1579-1581)ctA>ctG p.L527L ITSN1_ENST00000381285.4_Silent_p.L527L|ITSN1_ENST00000381291.4_Silent_p.L527L|ITSN1_ENST00000399349.1_Silent_p.L527L|ITSN1_ENST00000399352.1_Silent_p.L527L|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399353.1_Silent_p.L490L|ITSN1_ENST00000399367.3_Silent_p.L527L|ITSN1_ENST00000399326.3_Silent_p.L527L|ITSN1_ENST00000399338.4_Silent_p.L527L|ITSN1_ENST00000379960.5_Silent_p.L527L|ITSN1_ENST00000437442.2_Silent_p.L527L|ITSN1_ENST00000399355.2_Silent_p.L527L NM_003024.2 NP_003015.2 Q15811 ITSN1_HUMAN intersectin 1 (SH3 domain protein) 527 KLERQ. 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 vesicle endocytosis cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 67 TCACCCATCTACAGCAACAAT 0.353000 6 34 0 0 1 0 0 ZNF92 168374 broad.mit.edu 37 7 64863705 64863705 + Silent SNP A A G TCGA-69-7761-01A-11D-2167-08 TCGA-69-7761-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3986bd8-e8b0-4bcf-b850-abcbac67485f e5f8e6d1-e696-4867-9857-6ef6b9a05262 g.chr7:64863705A>G ENST00000328747.7 + 4 877 c.678A>G c.(676-678)gaA>gaG p.E226E ZNF92_ENST00000431504.1_Silent_p.E150E|ZNF92_ENST00000450302.2_Silent_p.E157E|ZNF92_ENST00000357512.2_Silent_p.E194E NM_152626.2 NP_689839.1 Q03936 ZNF92_HUMAN zinc finger protein 92 226 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|skin(1)|stomach(1) 13 Lung NSC(55;0.159) ATACTGGAGAAAAACCCTACA 0.338000 3 58 0 0 1 0 0 BTN2A2 10385 broad.mit.edu 37 6 26384103 26384103 + Silent SNP C C G TCGA-69-7761-01A-11D-2167-08 TCGA-69-7761-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3986bd8-e8b0-4bcf-b850-abcbac67485f e5f8e6d1-e696-4867-9857-6ef6b9a05262 g.chr6:26384103C>G ENST00000356709.4 + 2 165 c.54C>G c.(52-54)ctC>ctG p.L18L BTN2A2_ENST00000416795.2_Silent_p.L18L|BTN2A2_ENST00000469230.1_Silent_p.L18L|BTN2A2_ENST00000432533.2_Silent_p.L18L|BTN2A2_ENST00000352867.2_Silent_p.L18L|BTN2A2_ENST00000482536.1_Silent_p.L18L NM_001197240.1|NM_006995.4 NP_001184169.1|NP_008926.2 Q8WVV5 BT2A2_HUMAN butyrophilin, subfamily 2, member A2 18 negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion integral to membrane breast(2)|endometrium(3)|large_intestine(5)|lung(13) 23 tcctcctcctcctgctcctcc 0.587000 3 71 0 0 1 0 0 DPYSL2 1808 broad.mit.edu 37 8 26441458 26441458 + Missense_Mutation SNP A A G rs113269672 TCGA-69-7761-01A-11D-2167-08 TCGA-69-7761-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3986bd8-e8b0-4bcf-b850-abcbac67485f e5f8e6d1-e696-4867-9857-6ef6b9a05262 g.chr8:26441458A>G ENST00000311151.5 + 3 684 c.272A>G c.(271-273)cAa>cGa p.Q91R DPYSL2_ENST00000523027.1_Missense_Mutation_p.Q55R|DPYSL2_ENST00000521913.1_Missense_Mutation_p.Q55R NM_001386.5 NP_001377.1 Q16555 DPYL2_HUMAN dihydropyrimidinase-like 2 91 axon guidance|pyrimidine base catabolic process|signal transduction cytosol dihydropyrimidinase activity|protein binding breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1) 20 all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183) GATTTCTTCCAAGGAACCAAG 0.498000 18 84 0 0 1 0 0 GLB1L3 112937 broad.mit.edu 37 11 134158730 134158730 + Silent SNP G G A TCGA-69-7761-01A-11D-2167-08 TCGA-69-7761-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3986bd8-e8b0-4bcf-b850-abcbac67485f e5f8e6d1-e696-4867-9857-6ef6b9a05262 g.chr11:134158730G>A ENST00000389887.5 + 7 3171 c.675G>A c.(673-675)gaG>gaA p.E225E GLB1L3_ENST00000431683.2_Silent_p.E225E Q8NCI6 GLBL3_HUMAN galactosidase, beta 1-like 3 225 carbohydrate metabolic process cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1) 13 all_hematologic(175;0.127) all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559) Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222) TGCAAGTGGAGAATGAGTATG 0.502000 5 26 0 0 1 0 0 WBP11 51729 broad.mit.edu 37 12 14947586 14947586 + Silent SNP A A G TCGA-69-7761-01A-11D-2167-08 TCGA-69-7761-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3986bd8-e8b0-4bcf-b850-abcbac67485f e5f8e6d1-e696-4867-9857-6ef6b9a05262 g.chr12:14947586A>G ENST00000261167.2 - 7 839 c.606T>C c.(604-606)ccT>ccC p.P202P WBP11_ENST00000537574.1_Silent_p.P202P NM_016312.2 NP_057396.1 Q9Y2W2 WBP11_HUMAN WW domain binding protein 11 202 Pro-rich. mRNA processing|RNA splicing|rRNA processing cytoplasm single-stranded DNA binding|WW domain binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1) 30 GACCAGGGGGAGGGCCAGGAG 0.512000 4 114 0 0 1 0 0 RRP1 8568 broad.mit.edu 37 21 45220445 45220445 + Silent SNP C C T TCGA-69-7761-01A-11D-2167-08 TCGA-69-7761-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3986bd8-e8b0-4bcf-b850-abcbac67485f e5f8e6d1-e696-4867-9857-6ef6b9a05262 g.chr21:45220445C>T ENST00000497547.1 + 10 1056 c.939C>T c.(937-939)cgC>cgT p.R313R RRP1_ENST00000471909.1_3'UTR NM_003683.5 NP_003674.1 P56182 RRP1_HUMAN ribosomal RNA processing 1 313 rRNA processing nucleolus|preribosome, small subunit precursor central_nervous_system(1)|kidney(1)|lung(4)|stomach(2) 8 COAD - Colon adenocarcinoma(84;0.00753)|Colorectal(79;0.0157)|STAD - Stomach adenocarcinoma(101;0.171) TGGCCAGCCGCCAGAGCACCC 0.552000 4 24 0 0 1 0 0 DRAM1 55332 broad.mit.edu 37 12 102315025 102315025 + Missense_Mutation SNP A A G rs61748066 TCGA-69-7761-01A-11D-2167-08 TCGA-69-7761-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3986bd8-e8b0-4bcf-b850-abcbac67485f e5f8e6d1-e696-4867-9857-6ef6b9a05262 g.chr12:102315025A>G ENST00000258534.8 + 7 1143 c.704A>G c.(703-705)aAt>aGt p.N235S DRAM1_ENST00000544152.1_Missense_Mutation_p.N125S NM_018370.2 NP_060840.2 Q8N682 DRAM1_HUMAN DNA-damage regulated autophagy modulator 1 235 apoptosis|autophagy integral to membrane|lysosomal membrane central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1) 12 ACAGAAATCAATGGTGATATT 0.388000 14 76 0 0 1 0 0 ALPK1 80216 broad.mit.edu 37 4 113356393 113356393 + Nonsense_Mutation SNP A A T TCGA-69-7761-01A-11D-2167-08 TCGA-69-7761-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3986bd8-e8b0-4bcf-b850-abcbac67485f e5f8e6d1-e696-4867-9857-6ef6b9a05262 g.chr4:113356393A>T ENST00000458497.1 + 12 3403 c.3124A>T c.(3124-3126)Aaa>Taa p.K1042* ALPK1_ENST00000504176.2_Nonsense_Mutation_p.K964*|ALPK1_ENST00000177648.9_Nonsense_Mutation_p.K1042* NM_001102406.1|NM_025144.3 NP_001095876.1|NP_079420.3 Q96QP1 ALPK1_HUMAN alpha-kinase 1 1042 Alpha-type protein kinase. ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1) 53 Ovarian(17;0.0446)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00325) GACTGTGAAGAAAAAAGGCAG 0.348000 11 111 0 0 1 0 0 RALGAPA2 57186 broad.mit.edu 37 20 20600000 20600000 + Missense_Mutation SNP A A C TCGA-69-7761-01A-11D-2167-08 TCGA-69-7761-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3986bd8-e8b0-4bcf-b850-abcbac67485f e5f8e6d1-e696-4867-9857-6ef6b9a05262 g.chr20:20600000A>C ENST00000202677.6 - 12 1602 c.1460T>G c.(1459-1461)tTc>tGc p.F487C NM_020343.3 NP_065076.2 Q2PPJ7 RGPA2_HUMAN Ral GTPase activating protein, alpha subunit 2 (catalytic) 487 activation of Ral GTPase activity cytosol|nucleus protein heterodimerization activity|Ral GTPase activator activity endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 54 TGCACTTGTGAAGGAGTATGT 0.483000 3 13 0 0 1 0 0 ZFYVE16 9765 broad.mit.edu 37 5 79733547 79733547 + Missense_Mutation SNP G G C TCGA-69-7761-01A-11D-2167-08 TCGA-69-7761-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3986bd8-e8b0-4bcf-b850-abcbac67485f e5f8e6d1-e696-4867-9857-6ef6b9a05262 g.chr5:79733547G>C ENST00000338008.5 + 3 1223 c.1043G>C c.(1042-1044)aGt>aCt p.S348T ZFYVE16_ENST00000510158.1_Missense_Mutation_p.S348T|ZFYVE16_ENST00000505560.1_Missense_Mutation_p.S348T NM_014733.3 NP_055548.3 Q7Z3T8 ZFY16_HUMAN zinc finger, FYVE domain containing 16 348 BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization early endosome membrane 1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36) GACTCAAAAAGTTTAGACCTT 0.353000 10 27 0 0 1 0 0 HECTD1 25831 broad.mit.edu 37 14 31644125 31644125 + Missense_Mutation SNP C C A TCGA-69-7761-01A-11D-2167-08 TCGA-69-7761-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3986bd8-e8b0-4bcf-b850-abcbac67485f e5f8e6d1-e696-4867-9857-6ef6b9a05262 g.chr14:31644125C>A ENST00000399332.1 - 4 1083 c.595G>T c.(595-597)Gat>Tat p.D199Y HECTD1_ENST00000553700.1_Missense_Mutation_p.D199Y NM_015382.2 NP_056197.2 Q9ULT8 HECD1_HUMAN HECT domain containing E3 ubiquitin protein ligase 1 199 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular metal ion binding|protein binding|ubiquitin-protein ligase activity breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 70 Hepatocellular(127;0.0877)|Breast(36;0.176) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00617) ACCTGATGATCTTCATGCTTT 0.338000 3 17 1 1 1 1 0 PRSS3P2 154754 broad.mit.edu 37 7 142482242 142482242 + RNA SNP G G A rs143538588 by1000genomes TCGA-69-7761-01A-11D-2167-08 TCGA-69-7761-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3986bd8-e8b0-4bcf-b850-abcbac67485f e5f8e6d1-e696-4867-9857-6ef6b9a05262 g.chr7:142482242G>A ENST00000603901.1 + 0 622 NR_001296.3 GGTCTGCAATGGACAGCTTCA 0.493000 3 32 0 0 1 0 0 TOP1MT 116447 broad.mit.edu 37 8 144406735 144406735 + Missense_Mutation SNP C C T TCGA-69-7761-01A-11D-2167-08 TCGA-69-7761-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3986bd8-e8b0-4bcf-b850-abcbac67485f e5f8e6d1-e696-4867-9857-6ef6b9a05262 g.chr8:144406735C>T ENST00000523676.1 - 7 847 c.442G>A c.(442-444)Gtc>Atc p.V148I TOP1MT_ENST00000519148.1_Missense_Mutation_p.V148I|TOP1MT_ENST00000329245.4_Missense_Mutation_p.V246I|TOP1MT_ENST00000521193.1_Missense_Mutation_p.V148I Q969P6 TOP1M_HUMAN topoisomerase (DNA) I, mitochondrial 246 DNA topological change chromosome|mitochondrial nucleoid ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2) 23 all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173) Irinotecan(DB00762)|Topotecan(DB01030) AGCCACGTGACGGTGTTATCG 0.592000 6 113 0 0 1 0 0 PTH2 113091 broad.mit.edu 37 19 49926533 49926533 + Missense_Mutation SNP G G C TCGA-69-7761-01A-11D-2167-08 TCGA-69-7761-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3986bd8-e8b0-4bcf-b850-abcbac67485f e5f8e6d1-e696-4867-9857-6ef6b9a05262 g.chr19:49926533G>C ENST00000270631.1 - 1 165 c.64C>G c.(64-66)Ctg>Gtg p.L22V NM_178449.3 NP_848544.1 Q96A98 TIP39_HUMAN parathyroid hormone 2 22 neuropeptide signaling pathway extracellular region p.L22V(2) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836) GGCACCACcagcagcagcagc 0.692000 3 25 0 0 1 0 0 PCDHB15 56121 broad.mit.edu 37 5 140625619 140625619 + Missense_Mutation SNP G G A TCGA-69-7761-01A-11D-2167-08 TCGA-69-7761-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3986bd8-e8b0-4bcf-b850-abcbac67485f e5f8e6d1-e696-4867-9857-6ef6b9a05262 g.chr5:140625619G>A ENST00000231173.3 + 1 473 c.473G>A c.(472-474)cGg>cAg p.R158Q NM_018935.2 NP_061758.1 Q9Y5E8 PCDBF_HUMAN 158 Cadherin 2. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 61 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AAAAAAGCTCGGGACTTGGAC 0.448000 3 38 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091840 29091840 + Missense_Mutation SNP T T C rs142470496 byFrequency TCGA-69-7761-01A-11D-2167-08 TCGA-69-7761-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3986bd8-e8b0-4bcf-b850-abcbac67485f e5f8e6d1-e696-4867-9857-6ef6b9a05262 g.chr22:29091840T>C ENST00000544772.1 - 12 1890 c.454A>G c.(454-456)Aag>Gag p.K152E CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 373 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.K373E(9) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCCAAAATCTTGGAGTGCCCA 0.418000 F breast Direct reversal of damage;Other conserved DNA damage response genes 4 27 0 0 1 0 0 MYT1 4661 broad.mit.edu 37 20 62839705 62839705 + Missense_Mutation SNP G G A TCGA-69-7761-01A-11D-2167-08 TCGA-69-7761-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3986bd8-e8b0-4bcf-b850-abcbac67485f e5f8e6d1-e696-4867-9857-6ef6b9a05262 g.chr20:62839705G>A ENST00000536311.1 + 7 1520 c.1156G>A c.(1156-1158)Gcc>Acc p.A386T MYT1_ENST00000360149.4_Intron|MYT1_ENST00000328439.1_Missense_Mutation_p.A386T Q01538 MYT1_HUMAN myelin transcription factor 1 386 cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) GCAGGCCATCGCCCTGAAGGC 0.662000 9 32 0 0 1 0 0 OGT 8473 broad.mit.edu 37 X 70775057 70775057 + Missense_Mutation SNP T T A TCGA-69-7761-01A-11D-2167-08 TCGA-69-7761-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3986bd8-e8b0-4bcf-b850-abcbac67485f e5f8e6d1-e696-4867-9857-6ef6b9a05262 g.chrX:70775057T>A ENST00000373719.3 + 7 963 c.746T>A c.(745-747)cTt>cAt p.L249H OGT_ENST00000373701.3_Missense_Mutation_p.L239H NM_181672.2|NM_181673.2 NP_858058.1|NP_858059.1 O15294 OGT1_HUMAN O-linked N-acetylglucosamine (GlcNAc) transferase 249 cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction cytosol|MLL5-L complex enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Renal(35;0.156) GCAGCTTATCTTCGTGCCCTA 0.458000 3 16 0 0 1 0 0 ARHGEF9 23229 broad.mit.edu 37 X 62944546 62944546 + Missense_Mutation SNP G G A TCGA-69-7761-01A-11D-2167-08 TCGA-69-7761-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3986bd8-e8b0-4bcf-b850-abcbac67485f e5f8e6d1-e696-4867-9857-6ef6b9a05262 g.chrX:62944546G>A ENST00000253401.6 - 2 855 c.55C>T c.(55-57)Cac>Tac p.H19Y ARHGEF9_ENST00000495564.1_5'UTR|ARHGEF9_ENST00000374872.1_5'UTR|ARHGEF9_ENST00000374878.1_Missense_Mutation_p.H17Y|ARHGEF9_ENST00000437457.2_Intron|ARHGEF9_ENST00000374870.4_Intron NM_015185.2 NP_056000.1 O43307 ARHG9_HUMAN Cdc42 guanine nucleotide exchange factor (GEF) 9 19 SH3. apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol Rho guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1) 35 ATGGTGACGTGATCCCATACT 0.512000 3 38 0 0 1 0 0 FAM129C 199786 broad.mit.edu 37 19 17660359 17660359 + Silent SNP G G T TCGA-69-7761-01A-11D-2167-08 TCGA-69-7761-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3986bd8-e8b0-4bcf-b850-abcbac67485f e5f8e6d1-e696-4867-9857-6ef6b9a05262 g.chr19:17660359G>T ENST00000595684.1 + 15 2004 c.1866G>T c.(1864-1866)ctG>ctT p.L622L FAM129C_ENST00000352727.3_Intron|FAM129C_ENST00000332386.5_Intron|FAM129C_ENST00000599164.1_Intron|FAM129C_ENST00000449408.2_Intron|FAM129C_ENST00000601861.1_Intron|FAM129C_ENST00000599124.1_Intron|FAM129C_ENST00000335393.4_Intron|FAM129C_ENST00000600871.1_Intron Q86XR2 NIBL2_HUMAN family with sequence similarity 129, member C 0 autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1) 33 ACAGGCTTCTGAAACATGCCA 0.552000 3 19 0.115264 0.119171 1 1 0 CHEK2 11200 broad.mit.edu 37 22 29091841 29091841 + Silent SNP G G A rs146546850 byFrequency TCGA-69-7761-01A-11D-2167-08 TCGA-69-7761-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3986bd8-e8b0-4bcf-b850-abcbac67485f e5f8e6d1-e696-4867-9857-6ef6b9a05262 g.chr22:29091841G>A ENST00000544772.1 - 12 1889 c.453C>T c.(451-453)tcC>tcT p.S151S CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000404276.1_Silent_p.S372S NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 372 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.S372S(8) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCAAAATCTTGGAGTGCCCAA 0.413000 F breast Direct reversal of damage;Other conserved DNA damage response genes 4 26 0 0 1 0 0 ZEB1 6935 broad.mit.edu 37 10 31810592 31810592 + Missense_Mutation SNP C C G TCGA-69-7761-01A-11D-2167-08 TCGA-69-7761-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3986bd8-e8b0-4bcf-b850-abcbac67485f e5f8e6d1-e696-4867-9857-6ef6b9a05262 g.chr10:31810592C>G ENST00000446923.2 + 7 2672 c.2281C>G c.(2281-2283)Cca>Gca p.P761A ZEB1_ENST00000542815.3_Missense_Mutation_p.P710A|ZEB1_ENST00000320985.10_Missense_Mutation_p.P777A|ZEB1_ENST00000560721.2_Missense_Mutation_p.P757A|ZEB1_ENST00000361642.5_Missense_Mutation_p.P778A|ZEB1_ENST00000559858.1_3'UTR NM_001128128.2|NM_001174094.1 NP_001121600.1|NP_001167565.1 P37275 ZEB1_HUMAN zinc finger E-box binding homeobox 1 777 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) AAAAAAGGAGCCACAAAAGGA 0.423000 12 53 0 0 1 0 0 ZNF83 55769 broad.mit.edu 37 19 53116801 53116801 + Silent SNP G G A TCGA-69-7761-01A-11D-2167-08 TCGA-69-7761-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3986bd8-e8b0-4bcf-b850-abcbac67485f e5f8e6d1-e696-4867-9857-6ef6b9a05262 g.chr19:53116801G>A ENST00000597597.1 - 2 3270 c.1017C>T c.(1015-1017)caC>caT p.H339H ZNF83_ENST00000391789.4_Silent_p.H311H|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000301096.3_Silent_p.H339H|ZNF83_ENST00000544146.1_Silent_p.H339H|ZNF83_ENST00000541777.2_Silent_p.H339H|ZNF83_ENST00000536937.1_Silent_p.H339H|ZNF83_ENST00000545872.1_Silent_p.H339H P51522 ZNF83_HUMAN zinc finger protein 83 339 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 18 OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244) TCTCTCCAGTGTGGATTCTCC 0.418000 5 129 0 0 1 0 0 SCN10A 6336 broad.mit.edu 37 3 38798590 38798590 + Silent SNP G G C TCGA-69-7761-01A-11D-2167-08 TCGA-69-7761-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3986bd8-e8b0-4bcf-b850-abcbac67485f e5f8e6d1-e696-4867-9857-6ef6b9a05262 g.chr3:38798590G>C ENST00000449082.2 - 8 1010 c.1011C>G c.(1009-1011)acC>acG p.T337T NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 337 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) AATCAAAGCTGGTGTAGTTAA 0.502000 9 39 0 0 1 0 0 ID2 3398 broad.mit.edu 37 2 8822342 8822342 + Missense_Mutation SNP C C T TCGA-69-7761-01A-11D-2167-08 TCGA-69-7761-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3986bd8-e8b0-4bcf-b850-abcbac67485f e5f8e6d1-e696-4867-9857-6ef6b9a05262 g.chr2:8822342C>T ENST00000234091.4 + 3 907 c.47C>T c.(46-48)tCg>tTg p.S16L ID2_ENST00000396290.1_Missense_Mutation_p.S16L|ID2_ENST00000331129.3_Missense_Mutation_p.S16L Q02363 ID2_HUMAN inhibitor of DNA binding 2, dominant negative helix-loop-helix protein 16 cellular senescence|embryonic digestive tract morphogenesis|endodermal digestive tract morphogenesis|epithelial cell differentiation involved in mammary gland alveolus development|mammary gland epithelial cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of neuron differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|neuron fate commitment|positive regulation of blood pressure|positive regulation of cell cycle arrest|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent protein complex protein binding breast(1)|large_intestine(1)|lung(1)|prostate(1) 4 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) AACAGCCTGTCGGACCACAGC 0.597000 5 39 0 0 1 0 0 FAM47C 442444 broad.mit.edu 37 X 37028425 37028425 + Missense_Mutation SNP A A G rs145580328 byFrequency TCGA-69-7761-01A-11D-2167-08 TCGA-69-7761-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3986bd8-e8b0-4bcf-b850-abcbac67485f e5f8e6d1-e696-4867-9857-6ef6b9a05262 g.chrX:37028425A>G ENST00000358047.3 + 1 1994 c.1942A>G c.(1942-1944)Aat>Gat p.N648D NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 648 p.N648D(7) breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 GGAGCCTCCCAATACTGGAGT 0.642000 3 50 0 0 1 0 0 KRT16P2 400578 broad.mit.edu 37 17 16734770 16734770 + RNA SNP C C T rs659229 TCGA-69-7761-01A-11D-2167-08 TCGA-69-7761-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3986bd8-e8b0-4bcf-b850-abcbac67485f e5f8e6d1-e696-4867-9857-6ef6b9a05262 g.chr17:16734770C>T ENST00000579062.1 - 0 545 TCAGGCCTTCCATCTGCATCT 0.627000 3 60 0 0 1 0 0 DNM1P47 100216544 broad.mit.edu 37 15 102294648 102294648 + RNA SNP T T C TCGA-69-7761-01A-11D-2167-08 TCGA-69-7761-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3986bd8-e8b0-4bcf-b850-abcbac67485f e5f8e6d1-e696-4867-9857-6ef6b9a05262 g.chr15:102294648T>C ENST00000561463.1 + 0 2694 TTCTCAGAGCTGCTGTCCAAC 0.587000 4 34 0 0 1 0 0 SKA1 220134 broad.mit.edu 37 18 47911673 47911673 + Missense_Mutation SNP T T A TCGA-69-7761-01A-11D-2167-08 TCGA-69-7761-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3986bd8-e8b0-4bcf-b850-abcbac67485f e5f8e6d1-e696-4867-9857-6ef6b9a05262 g.chr18:47911673T>A ENST00000285116.3 + 5 610 c.399T>A c.(397-399)agT>agA p.S133R SKA1_ENST00000488454.1_Intron|SKA1_ENST00000417656.2_Intron|SKA1_ENST00000398452.2_Missense_Mutation_p.S133R NM_001039535.2|NM_145060.3 NP_001034624.1|NP_659497.1 Q96BD8 SKA1_HUMAN spindle and kinetochore associated complex subunit 1 133 cell division|chromosome segregation|mitotic anaphase|mitotic prometaphase|regulation of microtubule polymerization or depolymerization condensed chromosome outer kinetochore|cytosol|spindle microtubule microtubule binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(1)|prostate(1) 13 AGCAAAGAAGTATTAAGGAAA 0.348000 3 29 0 0 1 0 0 PLXNB1 5364 broad.mit.edu 37 3 48454284 48454284 + Missense_Mutation SNP C C G TCGA-69-7761-01A-11D-2167-08 TCGA-69-7761-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3986bd8-e8b0-4bcf-b850-abcbac67485f e5f8e6d1-e696-4867-9857-6ef6b9a05262 g.chr3:48454284C>G ENST00000358536.4 - 25 4990 c.4721G>C c.(4720-4722)aGg>aCg p.R1574T PLXNB1_ENST00000448774.2_Missense_Mutation_p.R185T|PLXNB1_ENST00000358459.4_Missense_Mutation_p.R1391T|PLXNB1_ENST00000296440.6_Missense_Mutation_p.R1574T|PLXNB1_ENST00000456774.1_Missense_Mutation_p.R1391T NM_002673.4 NP_002664.2 O43157 PLXB1_HUMAN plexin B1 1574 axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) GAAGAAGATCCTCTCCGCATA 0.612000 8 71 0 0 1 0 0 CHEK2P2 646096 broad.mit.edu 37 15 20489434 20489434 + RNA SNP C C T TCGA-69-7761-01A-11D-2167-08 TCGA-69-7761-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3986bd8-e8b0-4bcf-b850-abcbac67485f e5f8e6d1-e696-4867-9857-6ef6b9a05262 g.chr15:20489434C>T ENST00000555186.1 + 0 422 NR_038836.1 CACTGAAGGACCAGATCACCA 0.413000 4 51 0 0 1 0 0 CD109 135228 broad.mit.edu 37 6 74497176 74497176 + Splice_Site SNP G G T TCGA-69-7761-01A-11D-2167-08 TCGA-69-7761-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3986bd8-e8b0-4bcf-b850-abcbac67485f e5f8e6d1-e696-4867-9857-6ef6b9a05262 g.chr6:74497176G>T ENST00000437994.2 + 21 2987 c.e21+1 CD109_ENST00000422508.2_Splice_Site|CD109_ENST00000287097.5_Splice_Site NM_001159587.1|NM_133493.3 NP_001153059.1|NP_598000.2 Q6YHK3 CD109_HUMAN CD109 molecule anchored to membrane|extracellular space|plasma membrane serine-type endopeptidase inhibitor activity NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 TTTAGTAAAGGTAAATATTTG 0.378000 10 30 3.03607e-14 3.49435e-14 1 1 0 TTN 7273 broad.mit.edu 37 2 179592542 179592542 + Missense_Mutation SNP T T A TCGA-69-7761-01A-11D-2167-08 TCGA-69-7761-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3986bd8-e8b0-4bcf-b850-abcbac67485f e5f8e6d1-e696-4867-9857-6ef6b9a05262 g.chr2:179592542T>A ENST00000589042.1 - 68 19987 c.19763A>T c.(19762-19764)gAt>gTt p.D6588V TTN_ENST00000591111.1_Missense_Mutation_p.D6271V|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D5344V|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 6271 Ig-like 47. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CACTGTAGAATCAGGTATGGC 0.353000 8 22 0 0 1 0 0 FRYL 285527 broad.mit.edu 37 4 48622705 48622705 + Nonsense_Mutation SNP C C A TCGA-69-7761-01A-11D-2167-08 TCGA-69-7761-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3986bd8-e8b0-4bcf-b850-abcbac67485f e5f8e6d1-e696-4867-9857-6ef6b9a05262 g.chr4:48622705C>A ENST00000358350.4 - 6 869 c.265G>T c.(265-267)Gaa>Taa p.E89* FRYL_ENST00000503238.1_Nonsense_Mutation_p.E89*|FRYL_ENST00000507711.1_Nonsense_Mutation_p.E89*|FRYL_ENST00000537810.1_Nonsense_Mutation_p.E89*|FRYL_ENST00000264319.7_5'UTR NM_015030.1 NP_055845.1 O94915 FRYL_HUMAN FRY-like 89 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 GATTCATCTTCCGTTCCATTT 0.428000 7 74 1.12685e-05 1.24978e-05 1 1 0 PCLO 27445 broad.mit.edu 37 7 82763935 82763935 + Missense_Mutation SNP T T G TCGA-69-7761-01A-11D-2167-08 TCGA-69-7761-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3986bd8-e8b0-4bcf-b850-abcbac67485f e5f8e6d1-e696-4867-9857-6ef6b9a05262 g.chr7:82763935T>G ENST00000423517.2 - 3 3268 c.2931A>C c.(2929-2931)caA>caC p.Q977H PCLO_ENST00000333891.8_Missense_Mutation_p.Q977H NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 923 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TGGGTGGCCCTTGTGAAGTAG 0.507000 4 14 0 0 1 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37431050 37431050 + Missense_Mutation SNP G G C TCGA-69-7761-01A-11D-2167-08 TCGA-69-7761-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3986bd8-e8b0-4bcf-b850-abcbac67485f e5f8e6d1-e696-4867-9857-6ef6b9a05262 g.chr10:37431050G>C ENST00000374660.1 + 7 1156 c.1057G>C c.(1057-1059)Gca>Cca p.A353P ANKRD30A_ENST00000361713.1_Missense_Mutation_p.A353P|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.A353P Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 409 nucleus DNA binding|sequence-specific DNA binding transcription factor activity p.A353P(1) NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 ATTTACGTGGGCAGCAAAAGG 0.408000 4 34 0 0 1 0 0 MT-ND4 4538 broad.mit.edu 37 MT 11693 11693 + Missense_Mutation SNP G G A TCGA-69-7761-01A-11D-2167-08 TCGA-69-7761-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3986bd8-e8b0-4bcf-b850-abcbac67485f e5f8e6d1-e696-4867-9857-6ef6b9a05262 g.chrM:11693G>A ENST00000361381.2 + 1 934 c.934G>A c.(934-936)Gca>Aca p.312_312insT mitochondrially encoded NADH dehydrogenase 4 breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1) 13 GCTTCACCGGCGCAGTCATTC 0.473000 19 10 0 0 1 0 0 PSG8 440533 broad.mit.edu 37 19 43258606 43258606 + Silent SNP T T A TCGA-69-7761-01A-11D-2167-08 TCGA-69-7761-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3986bd8-e8b0-4bcf-b850-abcbac67485f e5f8e6d1-e696-4867-9857-6ef6b9a05262 g.chr19:43258606T>A ENST00000404209.4 - 5 1218 c.1122A>T c.(1120-1122)ctA>ctT p.L374L PSG8_ENST00000306511.4_Silent_p.L374L|PSG8_ENST00000406636.3_Silent_p.L252L|PSG8_ENST00000600709.1_5'UTR|PSG8_ENST00000401467.2_Silent_p.L281L NM_001130167.1 NP_001123639.1 Q9UQ74 PSG8_HUMAN pregnancy specific beta-1-glycoprotein 8 374 Ig-like C2-type 3. extracellular region breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 40 Prostate(69;0.00899) TTTGTCCTGATAGCTGAAACT 0.463000 21 212 0 0 1 0 0 PRSS3P2 154754 broad.mit.edu 37 7 142482229 142482229 + RNA SNP T T A rs145494190 by1000genomes TCGA-69-7761-01A-11D-2167-08 TCGA-69-7761-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3986bd8-e8b0-4bcf-b850-abcbac67485f e5f8e6d1-e696-4867-9857-6ef6b9a05262 g.chr7:142482229T>A ENST00000603901.1 + 0 609 NR_001296.3 p.P203P(1) CTGGTGGCCCTGTGGTCTGCA 0.493000 3 28 0 0 1 0 0 ZNF74 7625 broad.mit.edu 37 22 20760303 20760303 + Missense_Mutation SNP C C T TCGA-69-7761-01A-11D-2167-08 TCGA-69-7761-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3986bd8-e8b0-4bcf-b850-abcbac67485f e5f8e6d1-e696-4867-9857-6ef6b9a05262 g.chr22:20760303C>T ENST00000400451.2 + 5 1494 c.980C>T c.(979-981)aCg>aTg p.T327M ZNF74_ENST00000405993.1_Missense_Mutation_p.T295M|ZNF74_ENST00000403682.3_3'UTR|ZNF74_ENST00000356671.5_Missense_Mutation_p.T327M|ZNF74_ENST00000357502.5_3'UTR NM_003426.3 NP_003417.2 Q16587 ZNF74_HUMAN zinc finger protein 74 327 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent actin cytoskeleton|nucleus DNA binding|RNA binding|zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 19 Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219) Lung SC(17;0.0262)|all_lung(157;0.248) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173) CGCATCCACACGGGCGAGCGG 0.672000 7 38 0 0 1 0 0 ARFGEF1 10565 broad.mit.edu 37 8 68140474 68140474 + Missense_Mutation SNP C C A TCGA-69-7761-01A-11D-2167-08 TCGA-69-7761-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3986bd8-e8b0-4bcf-b850-abcbac67485f e5f8e6d1-e696-4867-9857-6ef6b9a05262 g.chr8:68140474C>A ENST00000262215.3 - 24 3795 c.3406G>T c.(3406-3408)Gat>Tat p.D1136Y ARFGEF1_ENST00000520381.1_Missense_Mutation_p.D590Y|ARFGEF1_ENST00000518230.1_5'UTR NM_006421.4 NP_006412.2 Q9Y6D6 BIG1_HUMAN ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) 1136 exocytosis|regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity|myosin binding breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206) GCATTTCCATCTAGCCTTGTA 0.308000 9 102 0.00829132 0.00903161 1 1 0 DNM1P47 100216544 broad.mit.edu 37 15 102294651 102294651 + RNA SNP T T G TCGA-69-7761-01A-11D-2167-08 TCGA-69-7761-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3986bd8-e8b0-4bcf-b850-abcbac67485f e5f8e6d1-e696-4867-9857-6ef6b9a05262 g.chr15:102294651T>G ENST00000561463.1 + 0 2697 TCAGAGCTGCTGTCCAACCTG 0.587000 3 35 0 0 1 0 0 ROBO2 6092 broad.mit.edu 37 3 77611877 77611877 + Missense_Mutation SNP G G T TCGA-69-7761-01A-11D-2167-08 TCGA-69-7761-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3986bd8-e8b0-4bcf-b850-abcbac67485f e5f8e6d1-e696-4867-9857-6ef6b9a05262 g.chr3:77611877G>T ENST00000461745.1 + 10 2413 c.1513G>T c.(1513-1515)Gtg>Ttg p.V505L ROBO2_ENST00000487694.3_Missense_Mutation_p.V521L|ROBO2_ENST00000332191.8_Missense_Mutation_p.V505L NM_002942.4 NP_002933.1 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 (Drosophila) 505 apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) AGTGCTGGATGTGACAGGTGA 0.423000 7 28 1.06961e-07 1.20827e-07 1 1 0 SMG5 23381 broad.mit.edu 37 1 156243215 156243215 + Missense_Mutation SNP C C A rs147611925 byFrequency TCGA-69-7761-01A-11D-2167-08 TCGA-69-7761-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3986bd8-e8b0-4bcf-b850-abcbac67485f e5f8e6d1-e696-4867-9857-6ef6b9a05262 g.chr1:156243215C>A ENST00000361813.5 - 6 715 c.571G>T c.(571-573)Gta>Tta p.V191L SMG5_ENST00000368267.4_Missense_Mutation_p.V191L NM_015327.2 NP_056142.2 Q9UPR3 SMG5_HUMAN SMG5 nonsense mediated mRNA decay factor 191 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|nucleus protein phosphatase 2A binding NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 48 Hepatocellular(266;0.158) TCGGTATCTACGCCAGCTAAT 0.483000 7 42 0.0477658 0.0502364 1 1 0 PNKD 25953 broad.mit.edu 37 2 219137330 219137330 + Missense_Mutation SNP C C T TCGA-69-7761-01A-11D-2167-08 TCGA-69-7761-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3986bd8-e8b0-4bcf-b850-abcbac67485f e5f8e6d1-e696-4867-9857-6ef6b9a05262 g.chr2:219137330C>T ENST00000248451.3 + 3 418 c.274C>T c.(274-276)Ctc>Ttc p.L92F PNKD_ENST00000273077.4_Intron|PNKD_ENST00000472650.1_Intron NM_001077399.2 NP_001070867.1 Q8N490 PNKD_HUMAN paroxysmal nonkinesigenic dyskinesia 0 membrane|mitochondrion|nucleus hydroxyacylglutathione hydrolase activity|zinc ion binding NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2) 10 Renal(207;0.0474) Epithelial(149;7.33e-07)|all cancers(144;0.000133)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CCTCTTCATCCTCACCAAGCG 0.607000 OREG0015199 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 135 0 0 1 0 0 MT-CO1 4512 broad.mit.edu 37 MT 5978 5978 + Missense_Mutation SNP A A G TCGA-69-7761-01A-11D-2167-08 TCGA-69-7761-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3986bd8-e8b0-4bcf-b850-abcbac67485f e5f8e6d1-e696-4867-9857-6ef6b9a05262 g.chrM:5978A>G ENST00000361624.2 + 1 75 c.75A>G c.(73-75)tgA>tgG p.25_25insW mitochondrially encoded cytochrome c oxidase I breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3) 54 TTCGGCGCATGAGCTGGAGTC 0.507000 4 9 0 0 1 0 0 KCNA5 3741 broad.mit.edu 37 12 5154827 5154827 + Missense_Mutation SNP T T C TCGA-69-7761-01A-11D-2167-08 TCGA-69-7761-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3986bd8-e8b0-4bcf-b850-abcbac67485f e5f8e6d1-e696-4867-9857-6ef6b9a05262 g.chr12:5154827T>C ENST00000252321.3 + 1 1743 c.1514T>C c.(1513-1515)gTc>gCc p.V505A NM_002234.3 NP_002225.2 P22460 KCNA5_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 5 505 Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2) 52 ATCGCCGGGGTCCTCACCATT 0.607000 8 59 0 0 1 0 0 IL26 55801 broad.mit.edu 37 12 68619484 68619484 + Missense_Mutation SNP A A T TCGA-69-7761-01A-11D-2167-08 TCGA-69-7761-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3986bd8-e8b0-4bcf-b850-abcbac67485f e5f8e6d1-e696-4867-9857-6ef6b9a05262 g.chr12:68619484A>T ENST00000229134.4 - 1 117 c.53T>A c.(52-54)cTt>cAt p.L18H IFNG-AS1_ENST00000536914.1_RNA NM_018402.1 NP_060872.1 Q9NPH9 IL26_HUMAN interleukin 26 18 cell-cell signaling|negative regulation of epithelial cell proliferation|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of JAK-STAT cascade|positive regulation of protein kinase B signaling cascade|positive regulation of stress-activated MAPK cascade|positive regulation of transcription from RNA polymerase II promoter cytosol|extracellular space|soluble fraction cytokine activity endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1) 12 Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018) GBM - Glioblastoma multiforme(7;0.000515) GGCAATGGCAAGAGACAGAGT 0.483000 25 96 0 0 1 0 0 TUBB8P7 197331 broad.mit.edu 37 16 90162556 90162556 + RNA SNP G G A TCGA-69-7761-01A-11D-2167-08 TCGA-69-7761-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3986bd8-e8b0-4bcf-b850-abcbac67485f e5f8e6d1-e696-4867-9857-6ef6b9a05262 g.chr16:90162556G>A ENST00000564451.1 + 0 1909 TUBB8P7_ENST00000567960.1_RNA p.E430*(1) TGCCACGGCCGAGGAGGAGGA 0.517000 4 122 0 0 1 0 0 KRTAP4-2 85291 broad.mit.edu 37 17 39334280 39334280 + Missense_Mutation SNP C C A rs147637076 by1000genomes TCGA-69-7761-01A-11D-2167-08 TCGA-69-7761-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3986bd8-e8b0-4bcf-b850-abcbac67485f e5f8e6d1-e696-4867-9857-6ef6b9a05262 g.chr17:39334280C>A ENST00000377726.2 - 1 180 c.137G>T c.(136-138)tGc>tTc p.C46F NM_033062.3 NP_149051.1 Q9BYR5 KRA42_HUMAN keratin associated protein 4-2 46 20 X 5 AA repeats OF C-C-[GRQVS]-[SPT]- [VSTQ]. keratin filament kidney(2)|lung(4)|upper_aerodigestive_tract(1) 7 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000449) CTGCGGTCTGCAGCAGCTGGA 0.677000 4 99 0.00909568 0.00973397 1 1 0 ITPRIPL1 150771 broad.mit.edu 37 2 96992793 96992795 + In_Frame_Del DEL GAG GAG - TCGA-69-7761-01A-11D-2167-08 TCGA-69-7761-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3986bd8-e8b0-4bcf-b850-abcbac67485f e5f8e6d1-e696-4867-9857-6ef6b9a05262 g.chr2:96992793_96992795delGAG ENST00000361124.4 + 1 859_861 c.448_450delGAG c.(448-450)del p.E155del ITPRIPL1_ENST00000536814.1_In_Frame_Del_p.E139del|ITPRIPL1_ENST00000439118.2_In_Frame_Del_p.E147del|ITPRIPL1_ENST00000542887.1_In_Frame_Del_p.E139del NM_178495.5 NP_848590.3 Q6GPH6 IPIL1_HUMAN inositol 1,4,5-trisphosphate receptor interacting protein-like 1 147 integral to membrane breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 TTCCAGCAGTGAGGAGGAGGAGG 0.532 7 50 --- --- --- --- ANKRD44 91526 broad.mit.edu 37 2 197943383 197943384 + Frame_Shift_Del DEL TG TG - TCGA-69-7761-01A-11D-2167-08 TCGA-69-7761-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3986bd8-e8b0-4bcf-b850-abcbac67485f e5f8e6d1-e696-4867-9857-6ef6b9a05262 g.chr2:197943383_197943384delTG ENST00000409153.1 - 16 1875_1876 c.1693_1694delCA c.(1693-1695)tfs p.H565fs ANKRD44_ENST00000539527.1_Frame_Shift_Del_p.H493fs|ANKRD44_ENST00000337207.5_Intron|ANKRD44_ENST00000450567.1_Intron|ANKRD44_ENST00000282272.8_Intron|ANKRD44_ENST00000328737.2_Intron Q8N8A2 ANR44_HUMAN ankyrin repeat domain 44 811 protein binding NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 45 OV - Ovarian serous cystadenocarcinoma(117;0.246) ATTTGGGGTATGTGTGTGTGTG 0.411 4 6 --- --- --- --- GLT8D1 55830 broad.mit.edu 37 3 52730605 52730609 + Frame_Shift_Del DEL CCAAA CCAAA - TCGA-69-7761-01A-11D-2167-08 TCGA-69-7761-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3986bd8-e8b0-4bcf-b850-abcbac67485f e5f8e6d1-e696-4867-9857-6ef6b9a05262 g.chr3:52730605_52730609delCCAAA ENST00000407584.3 - 6 1246_1250 c.396_400delTTTGG c.(394-402)ctaafs p.LLE132fs GLT8D1_ENST00000266014.5_Frame_Shift_Del_p.LLE132fs|GLT8D1_ENST00000394783.3_Frame_Shift_Del_p.LLE132fs|GLT8D1_ENST00000478968.2_Frame_Shift_Del_p.LLE132fs|GLT8D1_ENST00000491606.1_Frame_Shift_Del_p.LLE132fs|GLT8D1_ENST00000463827.1_5'UTR NM_001010983.1|NM_001278280.1 NP_001010983.1|NP_001265209.1 Q68CQ7 GL8D1_HUMAN glycosyltransferase 8 domain containing 1 132 integral to membrane|mitochondrion transferase activity, transferring glycosyl groups breast(1)|endometrium(1)|kidney(3)|large_intestine(3) 8 BRCA - Breast invasive adenocarcinoma(193;6.78e-05)|Kidney(197;0.000618)|KIRC - Kidney renal clear cell carcinoma(197;0.000779)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) ACTTTTCCTTCCAAAAGTTTAGGGT 0.390 7 30 --- --- --- --- WWC2 80014 broad.mit.edu 37 4 184182555 184182555 + Frame_Shift_Del DEL T T - TCGA-69-7761-01A-11D-2167-08 TCGA-69-7761-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3986bd8-e8b0-4bcf-b850-abcbac67485f e5f8e6d1-e696-4867-9857-6ef6b9a05262 g.chr4:184182555delT ENST00000403733.3 + 11 1978 c.1779delT c.(1777-1779)cafs p.H593fs WWC2_ENST00000378925.3_Frame_Shift_Del_p.H495fs|WWC2_ENST00000448232.2_Frame_Shift_Del_p.H593fs|WWC2_ENST00000513834.1_Intron|WWC2_ENST00000504005.1_Frame_Shift_Del_p.H275fs NM_024949.5 NP_079225.5 Q6AWC2 WWC2_HUMAN WW and C2 domain containing 2 593 NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3) 32 all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202) all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242) TGAGTAGCCATTTTGCAGATA 0.448 2 4 --- --- --- --- MTUS1 57509 broad.mit.edu 37 8 17611606 17611606 + Frame_Shift_Del DEL T T - TCGA-69-7761-01A-11D-2167-08 TCGA-69-7761-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3986bd8-e8b0-4bcf-b850-abcbac67485f e5f8e6d1-e696-4867-9857-6ef6b9a05262 g.chr8:17611606delT ENST00000381869.3 - 2 2184 c.1711delA c.(1711-1713)ttfs p.I571fs MTUS1_ENST00000381862.3_Frame_Shift_Del_p.I571fs|MTUS1_ENST00000519263.1_Frame_Shift_Del_p.I571fs|MTUS1_ENST00000262102.6_Frame_Shift_Del_p.I571fs NM_001001925.2 NP_001001925.1 Q9ULD2 MTUS1_HUMAN microtubule associated tumor suppressor 1 571 Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1) 36 Colorectal(111;0.0778) GTCTTGTTAATTAGAATTTCT 0.398 42 198 --- --- --- --- FAM166B 730112 broad.mit.edu 37 9 35562393 35562394 + Frame_Shift_Ins INS - - TAGT rs142582869 by1000genomes TCGA-69-7761-01A-11D-2167-08 TCGA-69-7761-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3986bd8-e8b0-4bcf-b850-abcbac67485f e5f8e6d1-e696-4867-9857-6ef6b9a05262 g.chr9:35562393_35562394insTAGT ENST00000399742.2 - 5 792_793 c.722_723insACTA c.(721-723)tggfs p.W241fs FAM166B_ENST00000492890.1_5'UTR NM_001099951.2|NM_001164310.1 NP_001093421.1|NP_001157782.1 A8MTA8 F166B_HUMAN family with sequence similarity 166, member B 241 p.Y225fs*1(1) kidney(3)|large_intestine(1)|lung(4)|ovary(1) 9 CGTAGCCCCCATAGTTAGGTAA 0.564 4 3 --- --- --- --- ZNF367 195828 broad.mit.edu 37 9 99180258 99180259 + In_Frame_Ins INS - - GGC TCGA-69-7761-01A-11D-2167-08 TCGA-69-7761-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3986bd8-e8b0-4bcf-b850-abcbac67485f e5f8e6d1-e696-4867-9857-6ef6b9a05262 g.chr9:99180258_99180259insGGC ENST00000375256.4 - 1 352_353 c.56_57insGCC c.(55-57)cgt>cGCCgt p.19_19R>RR NM_153695.3 NP_710162.1 Q7RTV3 ZN367_HUMAN zinc finger protein 367 19 Pro-rich. regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding cervix(1)|endometrium(4)|large_intestine(3)|lung(3)|prostate(1) 12 Acute lymphoblastic leukemia(62;0.0167) AGAAGATGACGggcggcggcgg 0.752 6 7 --- --- --- --- KRT76 51350 broad.mit.edu 37 12 53162773 53162775 + In_Frame_Del DEL ACT ACT - rs1464423 by1000genomes TCGA-69-7761-01A-11D-2167-08 TCGA-69-7761-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3986bd8-e8b0-4bcf-b850-abcbac67485f e5f8e6d1-e696-4867-9857-6ef6b9a05262 g.chr12:53162773_53162775delACT ENST00000332411.2 - 9 1692_1694 c.1639_1641delAGT c.(1639-1641)del p.S547del NM_015848.4 NP_056932.2 Q01546 K22O_HUMAN keratin 76 547 Tail. cytoskeleton organization keratin filament structural molecule activity p.S547_G548insS(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 ctccatagccactgctgctgctg 0.635 3 6 --- --- --- --- LRRIQ1 84125 broad.mit.edu 37 12 85449409 85449409 + Frame_Shift_Del DEL T T - TCGA-69-7761-01A-11D-2167-08 TCGA-69-7761-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3986bd8-e8b0-4bcf-b850-abcbac67485f e5f8e6d1-e696-4867-9857-6ef6b9a05262 g.chr12:85449409delT ENST00000393217.2 + 8 899 c.838delT c.(838-840)tafs p.L280fs NM_001079910.1 NP_001073379.1 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 280 Glu-rich. breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 83 GBM - Glioblastoma multiforme(134;0.212) AAATTCTTTGTTAAAACAGCA 0.274 7 21 --- --- --- --- CTD-2377D24.8 0 broad.mit.edu 37 17 46777522 46777524 + RNA DEL GGA GGA - TCGA-69-7761-01A-11D-2167-08 TCGA-69-7761-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3986bd8-e8b0-4bcf-b850-abcbac67485f e5f8e6d1-e696-4867-9857-6ef6b9a05262 g.chr17:46777522_46777524delGGA ENST00000575202.1 + 0 51 ggaggaagggggaggaggaggag 0.537 2 4 --- --- --- --- ITGB4 3691 broad.mit.edu 37 17 73732157 73732158 + Frame_Shift_Del DEL GT GT - rs121912463 TCGA-69-7761-01A-11D-2167-08 TCGA-69-7761-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3986bd8-e8b0-4bcf-b850-abcbac67485f e5f8e6d1-e696-4867-9857-6ef6b9a05262 g.chr17:73732157_73732158delGT ENST00000200181.3 + 14 1870_1871 c.1683_1684delGT c.(1681-1686)cagtfs p.QC561fs ITGB4_ENST00000339591.3_Frame_Shift_Del_p.QC561fs|ITGB4_ENST00000579662.1_Frame_Shift_Del_p.QC561fs|ITGB4_ENST00000450894.3_Frame_Shift_Del_p.QC561fs|ITGB4_ENST00000449880.2_Frame_Shift_Del_p.QC561fs|ITGB4_ENST00000584558.1_3'UTR NM_000213.3 NP_000204.3 P16144 ITB4_HUMAN integrin, beta 4 561 Cysteine-rich tandem repeats. cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1) 43 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) CCATGGGCCAGTGTGTGTGTGA 0.604 7 260 --- --- --- --- RP11-739N10.1 0 broad.mit.edu 37 18 24935152 24935157 + RNA DEL CATCAT CATCAT - rs36161350 TCGA-69-7761-01A-11D-2167-08 TCGA-69-7761-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3986bd8-e8b0-4bcf-b850-abcbac67485f e5f8e6d1-e696-4867-9857-6ef6b9a05262 g.chr18:24935152_24935157delCATCAT ENST00000584546.1 - 0 447 accaccactacatcatcatcatcatc 0.481 3 5 --- --- --- ---