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 BTN2A3P 0 broad.mit.edu 37 6 26422353 26422353 + RNA SNP C C T rs141013110 TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr6:26422353C>T ENST00000466808.2 + 0 7 p.P3S(2) GCTCATGGAACCAGCTGCTGC 0.622000 7 485 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179428962 179428962 + Silent SNP G G A TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr2:179428962G>A ENST00000589042.1 - 326 82121 c.81897C>T c.(81895-81897)atC>atT p.I27299I TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Silent_p.I18426I|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Silent_p.I24731I|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Silent_p.I18359I|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Silent_p.I25658I|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000460472.2_Silent_p.I18234I|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 25658 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) GTTTGCCACGGATGTCGGCTT 0.378000 7 671 0 0 1 0 0 GNA13 10672 broad.mit.edu 37 17 63052667 63052667 + Silent SNP G G A TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr17:63052667G>A ENST00000439174.2 - 1 290 c.45C>T c.(43-45)ttC>ttT p.F15F NM_006572.4 NP_006563.2 Q14344 GNA13_HUMAN guanine nucleotide binding protein (G protein), alpha 13 15 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase D activity|cellular component movement|platelet activation|Rho protein signal transduction brush border membrane|heterotrimeric G-protein complex|melanosome D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity|type 1 angiotensin receptor binding breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1) 34 GGCAGCCGGGGAAGCACACGG 0.682000 17 552 0 0 1 0 0 TXNDC2 0 broad.mit.edu 37 18 9887098 9887098 + Missense_Mutation SNP G G A TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr18:9887098G>A ENST00000306084.6 + 2 821 c.622G>A c.(622-624)Gac>Aac p.D208N TXNDC2_ENST00000357775.4_Missense_Mutation_p.D141N|TXNDC2_ENST00000536353.2_Intron NM_001098529.1 NP_001091999.1 Q86VQ3 TXND2_HUMAN thioredoxin domain containing 2 (spermatozoa) 208 22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I. cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis cytoplasm electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1) 31 CAAAGAGGGTGACATCCCCAA 0.557000 8 721 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56497706 56497706 + Missense_Mutation SNP C C T TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr6:56497706C>T ENST00000370754.5 - 27 3651 c.3652G>A c.(3652-3654)Gag>Aag p.E1218K DST_ENST00000518935.1_Missense_Mutation_p.E714K|DST_ENST00000446842.2_Missense_Mutation_p.E714K|DST_ENST00000370769.4_Missense_Mutation_p.E1040K|DST_ENST00000421834.2_Missense_Mutation_p.E1040K|DST_ENST00000370765.6_Missense_Mutation_p.E714K|DST_ENST00000370788.2_Missense_Mutation_p.E1040K|DST_ENST00000244364.6_Missense_Mutation_p.E714K|DST_ENST00000312431.6_Missense_Mutation_p.E1040K|DST_ENST00000361203.3_Missense_Mutation_p.E1040K Q03001 DYST_HUMAN dystonin 1040 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) ACATTAACCTCCTTTTCCAGT 0.378000 7 217 0 0 1 0 0 MST1L 0 broad.mit.edu 37 1 17083776 17083776 + RNA SNP C C A rs56318124 TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr1:17083776C>A ENST00000455405.2 - 0 812 p.R674L(1) CACAGAGACACGCGTGAAGAC 0.537000 7 119 1.67942e-08 1.90007e-08 1 1 0 C4A 720 broad.mit.edu 37 6 31964233 31964233 + Missense_Mutation SNP T T C TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr6:31964233T>C ENST00000428956.2 + 28 3616 c.3532T>C c.(3532-3534)Ttt>Ctt p.F1178L C4A_ENST00000498271.1_Missense_Mutation_p.F1178L NM_007293.2 NP_009224.2 complement component 4A (Rodgers blood group) GGCAAACTCATTTTTGGGGGA 0.607000 38 591 0 0 1 0 0 ATP5J2-PTCD1 0 broad.mit.edu 37 7 99057763 99057763 + Missense_Mutation SNP A A T TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr7:99057763A>T ENST00000413834.1 - 2 89 c.67T>A c.(67-69)Tgg>Agg p.W23R PTCD1_ENST00000555673.1_Missense_Mutation_p.W23R|ATP5J2_ENST00000544611.1_Missense_Mutation_p.W23R|ATP5J2_ENST00000466753.1_Intron|ATP5J2_ENST00000488775.1_Missense_Mutation_p.W23R|ATP5J2_ENST00000394186.3_Missense_Mutation_p.W23R|ATP5J2_ENST00000449683.1_Missense_Mutation_p.W33R|ATP5J2_ENST00000359832.4_Missense_Mutation_p.W29R|ATP5J2_ENST00000292475.3_Missense_Mutation_p.W29R B4DJ38 B4DJ38_HUMAN 23 ATCAAGATCCAGCTTGGCAGC 0.473000 54 1000 0 0 1 0 0 ZNF493 284443 broad.mit.edu 37 19 21606690 21606690 + Missense_Mutation SNP G G A TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr19:21606690G>A ENST00000392288.2 + 4 1338 c.1229G>A c.(1228-1230)tGt>tAt p.C410Y CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000355504.4_Missense_Mutation_p.C282Y NM_001076678.2 NP_001070146.1 Q6ZR52 ZN493_HUMAN zinc finger protein 493 282 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 30 TGTGAAGAATGTGGCAAAGCT 0.358000 6 301 0 0 1 0 0 ZNF860 344787 broad.mit.edu 37 3 32031962 32031962 + Missense_Mutation SNP A A G rs1808125 by1000genomes TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr3:32031962A>G ENST00000360311.4 + 2 1940 c.1391A>G c.(1390-1392)cAt>cGt p.H464R NM_001137674.2 NP_001131146.2 A6NHJ4 ZN860_HUMAN zinc finger protein 860 464 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|lung(4)|ovary(1) 8 AAGACCTTCCATCACAATTCA 0.418000 7 406 0 0 1 0 0 RUNX2 860 broad.mit.edu 37 6 45390466 45390466 + Silent SNP A A G TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr6:45390466A>G ENST00000371438.1 + 2 553 c.195A>G c.(193-195)caA>caG p.Q65Q RUNX2_ENST00000371436.6_Silent_p.Q65Q|RUNX2_ENST00000352853.5_Silent_p.Q133Q|RUNX2_ENST00000371432.3_Silent_p.Q51Q|RUNX2_ENST00000359524.5_Silent_p.Q51Q|RUNX2_ENST00000541979.1_Silent_p.Q133Q|RUNX2_ENST00000576263.1_Silent_p.Q65Q|RUNX2_ENST00000465038.2_Silent_p.Q65Q NM_001024630.3 NP_001019801.3 Q13950 RUNX2_HUMAN runt-related transcription factor 2 65 Poly-Gln. negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 agcagcagcaacagcagcagc 0.731000 4 85 0 0 1 0 0 MYT1 4661 broad.mit.edu 37 20 62839389 62839389 + Silent SNP A A G TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr20:62839389A>G ENST00000536311.1 + 7 1204 c.840A>G c.(838-840)gaA>gaG p.E280E MYT1_ENST00000360149.4_Intron|MYT1_ENST00000328439.1_Silent_p.E280E Q01538 MYT1_HUMAN myelin transcription factor 1 280 Glu-rich. 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) aggaagaggaagaggaggagg 0.557000 10 58 0 0 1 0 0 ME2 4200 broad.mit.edu 37 18 48447459 48447459 + Missense_Mutation SNP G G A TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr18:48447459G>A ENST00000321341.5 + 10 1230 c.958G>A c.(958-960)Gca>Aca p.A320T ME2_ENST00000382927.3_Missense_Mutation_p.A320T NM_002396.4 NP_002387.1 P23368 MAOM_HUMAN malic enzyme 2, NAD(+)-dependent, mitochondrial 320 malate metabolic process mitochondrial matrix electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3) 23 Colorectal(6;0.0273)|all_epithelial(6;0.118) Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184) NADH(DB00157) TCTTGGAATTGCAAATCTTAT 0.313000 10 182 0 0 1 0 0 FPR1 2357 broad.mit.edu 37 19 52249834 52249834 + Silent SNP G G A rs151277630 byFrequency TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr19:52249834G>A ENST00000595042.1 - 3 555 c.414C>T c.(412-414)acC>acT p.T138T FPR1_ENST00000304748.4_Silent_p.T138T NM_001193306.1 NP_001180235.1 P21462 FPR1_HUMAN formyl peptide receptor 1 138 activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction endosome|integral to membrane|plasma membrane N-formyl peptide receptor activity endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3) 20 all_neural(266;0.0189)|Medulloblastoma(540;0.146) GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018) Nedocromil(DB00716) CCAGGCTCACGGTGCGGTGGT 0.547000 20 282 0 0 1 0 0 HS6ST1 9394 broad.mit.edu 37 2 129026421 129026421 + Missense_Mutation SNP A A G TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr2:129026421A>G ENST00000259241.6 - 2 564 c.551T>C c.(550-552)cTa>cCa p.L184P NM_004807.2 NP_004798.3 O60243 H6ST1_HUMAN heparan sulfate 6-O-sulfotransferase 1 184 heparan sulfate proteoglycan biosynthetic process, enzymatic modification integral to plasma membrane sulfotransferase activity endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1) 15 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.117) GGGGTCTCGTAGCAGGGTGAT 0.622000 6 214 0 0 1 0 0 SDK2 54549 broad.mit.edu 37 17 71390417 71390417 + Silent SNP G G T TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr17:71390417G>T ENST00000392650.3 - 26 3639 c.3639C>A c.(3637-3639)tcC>tcA p.S1213S SDK2_ENST00000388726.3_Silent_p.S1213S NM_001144952.1 NP_001138424.1 Q58EX2 SDK2_HUMAN sidekick cell adhesion molecule 2 1213 Fibronectin type-III 7. cell adhesion integral to membrane breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 86 GCATGCTGCTGGAGGTGGTGG 0.642000 4 100 1 1 1 1 0 RANBP2 5903 broad.mit.edu 37 2 109371692 109371692 + Missense_Mutation SNP T T C TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr2:109371692T>C ENST00000283195.6 + 17 2569 c.2443T>C c.(2443-2445)Tgc>Cgc p.C815R NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 815 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 GAAAATGATTTGCCAACAAGT 0.348000 8 850 0 0 1 0 0 CC2D1A 54862 broad.mit.edu 37 19 14034184 14034184 + Silent SNP G G T TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr19:14034184G>T ENST00000318003.7 + 15 1921 c.1680G>T c.(1678-1680)ctG>ctT p.L560L CC2D1A_ENST00000589606.1_Silent_p.L560L NM_017721.4 NP_060191.3 Q6P1N0 C2D1A_HUMAN coiled-coil and C2 domain containing 1A 560 positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus|plasma membrane DNA binding|signal transducer activity NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2) 27 OV - Ovarian serous cystadenocarcinoma(19;3.49e-23) ACTTTGCCCTGGTCCAGCGGC 0.687000 6 453 0.00116845 0.00120739 1 1 0 ADAMTS13 11093 broad.mit.edu 37 9 136298550 136298550 + Missense_Mutation SNP C C T TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr9:136298550C>T ENST00000371929.3 + 10 1589 c.1145C>T c.(1144-1146)gCa>gTa p.A382V ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000356589.2_Missense_Mutation_p.A351V|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.A382V|ADAMTS13_ENST00000485925.1_Intron|ADAMTS13_ENST00000536611.1_Missense_Mutation_p.A54V NM_139025.3|NM_139027.3 NP_620594.1|NP_620596.2 Q76LX8 ATS13_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 13 382 Disintegrin. cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis cell surface|proteinaceous extracellular matrix calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4) 36 OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05) CCCATAGCAGCAGTGCATGGG 0.652000 11 288 0 0 1 0 0 PRSS54 221191 broad.mit.edu 37 16 58324907 58324907 + Silent SNP C C A TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr16:58324907C>A ENST00000219301.4 - 4 613 c.219G>T c.(217-219)ctG>ctT p.L73L PRSS54_ENST00000567164.1_Silent_p.L73L|PRSS54_ENST00000543437.1_Intron NM_001080492.1 NP_001073961.1 Q6PEW0 PRS54_HUMAN protease, serine, 54 73 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 AGAACTCGCTCAGGATGCAGC 0.647000 5 334 0.014758 0.0150493 1 1 0 KMT2D 8085 broad.mit.edu 37 12 49427679 49427679 + Silent SNP C C T TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr12:49427679C>T ENST00000301067.7 - 39 10808 c.10809G>A c.(10807-10809)caG>caA p.Q3603Q NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D p.Q3603Q(1)|p.Q3333Q(1) gctgctgctgctgttgttgct 0.582000 3 26 0 0 1 0 0 SLC6A10P 0 broad.mit.edu 37 16 32890639 32890639 + RNA SNP T T C rs79284655 TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr16:32890639T>C ENST00000330048.5 - 0 3159 NR_003083.2 ACCAGCGGCTTGTAGTACACA 0.627000 7 96 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628283 29628283 + Silent SNP G G C TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr20:29628283G>C ENST00000278882.3 + 6 665 c.285G>C c.(283-285)ggG>ggC p.G95G FRG1B_ENST00000358464.4_Silent_p.G95G|FRG1B_ENST00000439954.2_Silent_p.G100G p.G95G(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGAAGCAGGGGACATAGAAG 0.378000 13 485 0 0 1 0 0 AC008103.5 0 broad.mit.edu 37 22 18846025 18846025 + RNA SNP G G C rs5993363 TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr22:18846025G>C ENST00000412938.1 + 0 3383 GACGTTGAAGGCTGCCTTCAG 0.647000 5 345 0 0 1 0 0 MPDZ 8777 broad.mit.edu 37 9 13168481 13168481 + Silent SNP G G A TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr9:13168481G>A ENST00000319217.7 - 22 3385 c.3138C>T c.(3136-3138)ggC>ggT p.G1046G MPDZ_ENST00000536827.1_Silent_p.G1046G|MPDZ_ENST00000381015.4_Silent_p.G1046G|MPDZ_ENST00000381022.2_Silent_p.G1046G|MPDZ_ENST00000541718.1_Silent_p.G1046G|MPDZ_ENST00000447879.1_Silent_p.G1046G|MPDZ_ENST00000546205.1_Silent_p.G1046G NM_001261406.1 NP_001248335.1 O75970 MPDZ_HUMAN multiple PDZ domain protein 1046 PDZ 6. interspecies interaction between organisms apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction protein C-terminus binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2) 61 GBM - Glioblastoma multiforme(50;2.03e-06) TGGCAATCCGGCCATCTCGAC 0.448000 6 850 0 0 1 0 0 MAGEB6 158809 broad.mit.edu 37 X 26212431 26212431 + Silent SNP G G T TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chrX:26212431G>T ENST00000379034.1 + 2 617 c.468G>T c.(466-468)tcG>tcT p.S156S NM_173523.2 NP_775794.2 Q8N7X4 MAGB6_HUMAN melanoma antigen family B, 6 156 Ser-rich. p.S156S(1) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2) 33 CCACTGGCTCGCCTGATGCAG 0.507000 6 357 8.12818e-05 8.45549e-05 1 1 0 SLC35G3 146861 broad.mit.edu 37 17 33520358 33520358 + Silent SNP A A G rs74740601 by1000genomes TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr17:33520358A>G ENST00000297307.5 - 1 1054 c.969T>C c.(967-969)atT>atC p.I323I NM_152462.2 NP_689675.1 Q8N808 AMAC1_HUMAN solute carrier family 35, member G3 323 DUF6 2. integral to membrane p.I323I(1) TCTGGGCTGTAATGATGGCAA 0.547000 7 301 0 0 1 0 0 TCHH 7062 broad.mit.edu 37 1 152082320 152082320 + Missense_Mutation SNP T T C TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr1:152082320T>C ENST00000368804.1 - 2 3372 c.3373A>G c.(3373-3375)Aga>Gga p.R1125G NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 1125 10 X 30 AA tandem repeats. keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) cgttcctctctcagcagctgc 0.612000 7 633 0 0 1 0 0 ZNF141 7700 broad.mit.edu 37 4 367566 367566 + Missense_Mutation SNP T T C TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr4:367566T>C ENST00000240499.7 + 4 1489 c.1340T>C c.(1339-1341)gTa>gCa p.V447A ZNF141_ENST00000512994.1_Intron|ZNF141_ENST00000505939.1_Intron NM_003441.2 NP_003432.1 Q15928 ZN141_HUMAN zinc finger protein 141 447 anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1) 18 ATTCATACTGTAGATAAACCC 0.318000 7 667 0 0 1 0 0 FOXP2 93986 broad.mit.edu 37 7 114269973 114269973 + Silent SNP A A G rs149757187 TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr7:114269973A>G ENST00000393500.3 + 11 1105 c.285A>G c.(283-285)caA>caG p.Q95Q FOXP2_ENST00000393494.2_Silent_p.Q170Q|FOXP2_ENST00000390668.3_Silent_p.Q194Q|FOXP2_ENST00000393491.3_Silent_p.Q78Q|FOXP2_ENST00000360232.4_Silent_p.Q170Q|FOXP2_ENST00000393498.2_Silent_p.Q150Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000378237.3_Silent_p.Q170Q|FOXP2_ENST00000403559.4_Silent_p.Q187Q|FOXP2_ENST00000350908.4_Silent_p.Q170Q|FOXP2_ENST00000393489.3_Silent_p.Q78Q|FOXP2_ENST00000408937.3_Silent_p.Q195Q O15409 FOXP2_HUMAN forkhead box P2 170 Gln-rich. camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding p.Q195Q(1) breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 agcagcagcaacaacaacaac 0.502000 5 160 0 0 1 0 0 ANO8 57719 broad.mit.edu 37 19 17436170 17436170 + Missense_Mutation SNP C C T TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr19:17436170C>T ENST00000159087.4 - 17 2845 c.2687G>A c.(2686-2688)cGc>cAc p.R896H NM_020959.2 NP_066010.1 Q9HCE9 ANO8_HUMAN anoctamin 8 896 chloride channel complex chloride channel activity autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3) 27 CTGCTGGTAGCGATGCTGGGC 0.647000 5 180 0 0 1 0 0 SDHAP1 0 broad.mit.edu 37 3 195690149 195690149 + RNA SNP A A G TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr3:195690149A>G ENST00000427841.1 - 0 2325 NR_003264.2 TGACACATGCATGAGCTATTA 0.498000 5 32 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100680446 100680446 + Missense_Mutation SNP C C T TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr7:100680446C>T ENST00000306151.4 + 3 5813 c.5749C>T c.(5749-5751)Cca>Tca p.P1917S NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 1917 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) TAGCAGCATGCCAACCTCAAC 0.493000 7 983 0 0 1 0 0 MAML3 55534 broad.mit.edu 37 4 140811099 140811099 + Splice_Site SNP C C T TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr4:140811099C>T ENST00000398940.1 - 1 107 c.108_splice c.e1+1 p.Q36_splice MAML3_ENST00000509479.2_Silent_p.Q497Q|MAML3_ENST00000327122.5_Silent_p.Q341Q Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 497 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity p.Q497Q(2) breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) gctgctgctgctgctgctgct 0.542000 4 114 0 0 1 0 0 SLC35G3 146861 broad.mit.edu 37 17 33520392 33520392 + Missense_Mutation SNP G G C TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr17:33520392G>C ENST00000297307.5 - 1 1020 c.935C>G c.(934-936)gCg>gGg p.A312G NM_152462.2 NP_689675.1 Q8N808 AMAC1_HUMAN solute carrier family 35, member G3 312 DUF6 2. integral to membrane p.A312G(4) AACCCCTGCCGCCACGATGTC 0.567000 8 444 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100676777 100676777 + Missense_Mutation SNP C C T TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr7:100676777C>T ENST00000306151.4 + 3 2144 c.2080C>T c.(2080-2082)Cct>Tct p.P694S NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 694 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity p.P694S(1) NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) AACAAGTATGCCTGTCAACAC 0.493000 10 1535 0 0 1 0 0 LINC00969 0 broad.mit.edu 37 3 195410689 195410689 + RNA SNP C C T rs6583275 by1000genomes TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr3:195410689C>T ENST00000445430.1 + 0 1886 CTTTGAGGTGCACTGGAGGAA 0.567000 8 65 0 0 1 0 0 FRG2B 441581 broad.mit.edu 37 10 135438836 135438836 + Missense_Mutation SNP G G T TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr10:135438836G>T ENST00000443774.1 - 4 656 c.607C>A c.(607-609)Ctt>Att p.L203I FRG2B_ENST00000425520.1_Missense_Mutation_p.L202I Q96QU4 FRG2B_HUMAN FSHD region gene 2 family, member B 202 nucleus endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1) 20 all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) TCACAGGTAAGTGGAGAATGG 0.552000 6 218 1.15088e-07 1.27419e-07 1 1 0 FZD8 8325 broad.mit.edu 37 10 35930018 35930018 + Missense_Mutation SNP C C T TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr10:35930018C>T ENST00000374694.1 - 1 344 c.340G>A c.(340-342)Gcc>Acc p.A114T NM_031866.2 NP_114072.1 Q9H461 FZD8_HUMAN frizzled family receptor 8 114 FZ. axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development cell projection|Golgi apparatus|integral to membrane|plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1) 11 CCGGCCTTGGCGCGCTCGCAC 0.682000 4 108 0 0 1 0 0 PCDHB18 0 broad.mit.edu 37 5 140615657 140615657 + RNA SNP G G A TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr5:140615657G>A ENST00000526308.1 + 0 1720 NR_001281.1 endometrium(9)|lung(7)|ovary(1)|urinary_tract(1) 18 CGCGGACAACGGCCACCTATT 0.677000 15 733 0 0 1 0 0 DCAF12L1 139170 broad.mit.edu 37 X 125686333 125686333 + Silent SNP G G A TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chrX:125686333G>A ENST00000371126.1 - 1 501 c.259C>T c.(259-261)Ctg>Ttg p.L87L NM_178470.4 NP_848565.2 Q5VU92 DC121_HUMAN DDB1 and CUL4 associated factor 12-like 1 87 breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 CGCTCCGTCAGCAGCTCGGGC 0.657000 14 366 0 0 1 0 0 ZNF141 7700 broad.mit.edu 37 4 367563 367563 + Missense_Mutation SNP C C G TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr4:367563C>G ENST00000240499.7 + 4 1486 c.1337C>G c.(1336-1338)aCt>aGt p.T446S ZNF141_ENST00000512994.1_Intron|ZNF141_ENST00000505939.1_Intron NM_003441.2 NP_003432.1 Q15928 ZN141_HUMAN zinc finger protein 141 446 anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1) 18 AAAATTCATACTGTAGATAAA 0.323000 6 659 0 0 1 0 0 OR5P3 120066 broad.mit.edu 37 11 7847156 7847156 + Missense_Mutation SNP G G A rs117218570 by1000genomes TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr11:7847156G>A ENST00000328375.1 - 1 363 c.364C>T c.(364-366)Cgc>Tgc p.R122C RP11-35J10.5_ENST00000527565.1_lincRNA NM_153445.1 NP_703146.1 Q8WZ94 OR5P3_HUMAN olfactory receptor, family 5, subfamily P, member 3 122 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1) 15 Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) GCCACATAGCGATCATAGGCC 0.557000 29 375 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625892 29625892 + Missense_Mutation SNP T T C TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr20:29625892T>C ENST00000278882.3 + 5 516 c.136T>C c.(136-138)Tat>Cat p.Y46H FRG1B_ENST00000358464.4_Missense_Mutation_p.Y46H|FRG1B_ENST00000439954.2_Missense_Mutation_p.Y51H endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GAAATCTGGCTATGGAAAATA 0.348000 6 410 0 0 1 0 0 LINC00969 0 broad.mit.edu 37 3 195410687 195410687 + RNA SNP T T A rs6583274 by1000genomes TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr3:195410687T>A ENST00000445430.1 + 0 1884 CCCTTTGAGGTGCACTGGAGG 0.567000 8 65 0 0 1 0 0 RP11-248G5.8 0 broad.mit.edu 37 13 52864028 52864028 + RNA SNP C C T rs138483057 by1000genomes TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr13:52864028C>T ENST00000451298.1 - 0 141 RP11-64P12.8_ENST00000606031.1_RNA TAGAATGATACTCCAAAGGAA 0.313000 7 140 0 0 1 0 0 OR7A5 26659 broad.mit.edu 37 19 14938184 14938184 + Silent SNP A A G TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr19:14938184A>G ENST00000322301.3 - 2 957 c.870T>C c.(868-870)taT>taC p.Y290Y OR7A5_ENST00000594432.1_Silent_p.Y290Y|OR7A5_ENST00000601611.1_Intron Q15622 OR7A5_HUMAN olfactory receptor, family 7, subfamily A, member 5 290 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.Y290Y(2) breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 TCCTCAGACTATAGATAAAGG 0.478000 6 357 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90161578 90161578 + RNA SNP G G A rs13337896 by1000genomes TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr16:90161578G>A ENST00000564451.1 + 0 931 TUBB8P7_ENST00000567960.1_RNA p.R105H(3) GCCAAGGGACGCTACACCGAA 0.587000 7 196 0 0 1 0 0 FAM47C 442444 broad.mit.edu 37 X 37028425 37028425 + Missense_Mutation SNP A A G rs145580328 byFrequency TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 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 10 781 0 0 1 0 0 GRIA4 0 broad.mit.edu 37 11 105795458 105795458 + Missense_Mutation SNP G G T TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr11:105795458G>T ENST00000393127.2 + 12 2256 c.1810G>T c.(1810-1812)Ggt>Tgt p.G604C GRIA4_ENST00000530497.1_Missense_Mutation_p.G604C|GRIA4_ENST00000282499.5_Missense_Mutation_p.G604C|GRIA4_ENST00000525187.1_Missense_Mutation_p.G604C NM_001077243.2 NP_001070711.2 P48058 GRIA4_HUMAN glutamate receptor, ionotropic, AMPA 4 604 glutamate signaling pathway|synaptic transmission cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6) 82 Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323) BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899) L-Glutamic Acid(DB00142) GTTTTCCCTGGGTGCTTTTAT 0.453000 5 212 1.23904e-05 1.31542e-05 1 1 0 RPUSD4 84881 broad.mit.edu 37 11 126075456 126075456 + Missense_Mutation SNP G G A TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr11:126075456G>A ENST00000298317.4 - 5 756 c.703C>T c.(703-705)Cgg>Tgg p.R235W RPUSD4_ENST00000533628.1_Intron NM_032795.2 NP_116184.2 Q96CM3 RUSD4_HUMAN RNA pseudouridylate synthase domain containing 4 235 pseudouridine synthesis protein binding|pseudouridine synthase activity|RNA binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1) 17 all_hematologic(175;0.145) Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761) CGGCTGCGCCGCACTTTCACC 0.552000 6 337 0 0 1 0 0 CDKN2AIP 55602 broad.mit.edu 37 4 184367721 184367721 + Missense_Mutation SNP C C T TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr4:184367721C>T ENST00000504169.1 + 3 1091 c.884C>T c.(883-885)tCc>tTc p.S295F CDKN2AIP_ENST00000302350.4_3'UTR|CDKN2AIP_ENST00000506835.1_3'UTR NM_017632.2 NP_060102.1 Q9NXV6 CARF_HUMAN CDKN2A interacting protein 295 Ser-rich. negative regulation of cell growth|positive regulation of signal transduction|regulation of protein stability granular component|nucleoplasm double-stranded RNA binding|p53 binding endometrium(1)|kidney(2)|large_intestine(2)|lung(1) 6 all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155) TTGTTGGGCTCCTCAGGAAGC 0.468000 7 235 0 0 1 0 0 PRKCD 5580 broad.mit.edu 37 3 53223943 53223943 + Missense_Mutation SNP C C A TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr3:53223943C>A ENST00000394729.2 + 17 2126 c.1798C>A c.(1798-1800)Cac>Aac p.H600N PRKCD_ENST00000330452.3_Missense_Mutation_p.H600N NM_212539.1 NP_997704.1 Q05655 KPCD_HUMAN protein kinase C, delta 600 Protein kinase. activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction cytosol|endoplasmic reticulum|nucleoplasm ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Ovarian(412;0.0728) OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173) CATCAAAATCCACCCCTTCTT 0.547000 40 1105 2.68265e-12 3.10307e-12 1 1 0 ENTPD4 9583 broad.mit.edu 37 8 23290634 23290634 + Silent SNP G G A TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr8:23290634G>A ENST00000358689.4 - 13 1891 c.1656C>T c.(1654-1656)caC>caT p.H552H ENTPD4_ENST00000417069.2_Silent_p.H544H|ENTPD4_ENST00000521321.1_Intron|ENTPD4_ENST00000356206.6_Intron NM_001128930.2|NM_004901.4 NP_001122402.1|NP_004892.1 Q9Y227 ENTP4_HUMAN ectonucleoside triphosphate diphosphohydrolase 4 552 UDP catabolic process autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane uridine-diphosphatase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 25 Prostate(55;0.114) Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649) GCCAGTGGGTGTGACTGGCTC 0.577000 9 215 0 0 1 0 0 SPEN 23013 broad.mit.edu 37 1 16259754 16259754 + Missense_Mutation SNP G G A TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr1:16259754G>A ENST00000375759.3 + 11 7223 c.7019G>A c.(7018-7020)cGc>cAc p.R2340H NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor 2340 Interaction with MSX2 (By similarity).|RID. interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding p.R2340H(1) NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) CGATCACGCCGCAAGCGAAAC 0.512000 5 259 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128812 45128812 + RNA SNP C C T TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr17:45128812C>T ENST00000575173.1 - 0 418 AGTCCTGTTTCTGTGTGGATT 0.373000 5 72 0 0 1 0 0 PRSS3P2 0 broad.mit.edu 37 7 142482229 142482229 + RNA SNP T T A rs145494190 by1000genomes TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr7:142482229T>A ENST00000603901.1 + 0 609 NR_001296.3 p.P203P(1) CTGGTGGCCCTGTGGTCTGCA 0.493000 5 109 0 0 1 0 0 ZNF649 65251 broad.mit.edu 37 19 52394736 52394736 + Missense_Mutation SNP T T C TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr19:52394736T>C ENST00000354957.3 - 5 937 c.653A>G c.(652-654)aAg>aGg p.K218R CTC-429C10.2_ENST00000600329.1_RNA|ZNF649_ENST00000600738.1_Splice_Site_p.K218_splice NM_023074.3 NP_075562.2 Q9BS31 ZN649_HUMAN zinc finger protein 649 218 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 29 all_neural(266;0.0602) GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185) GAGCCTGTACTTCTTGTAGAA 0.483000 5 411 0 0 1 0 0 HTR2C 3358 broad.mit.edu 37 X 114141278 114141278 + Missense_Mutation SNP C C T TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chrX:114141278C>T ENST00000276198.1 + 6 1405 c.677C>T c.(676-678)cCg>cTg p.P226L HTR2C_ENST00000371950.3_Silent_p.T194T|HTR2C_ENST00000371951.1_Missense_Mutation_p.P226L NM_000868.2 NP_000859.1 P28335 5HT2C_HUMAN 5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled 226 cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission cytoplasm|integral to membrane|nucleus|plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 50 Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246) TTCTTCATACCGCTGACGATT 0.507000 28 1597 0 0 1 0 0 FOXS1 2307 broad.mit.edu 37 20 30432696 30432696 + Missense_Mutation SNP G G T TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr20:30432696G>T ENST00000375978.3 - 1 724 c.650C>A c.(649-651)gCg>gAg p.A217E NM_004118.3 NP_004109.1 O43638 FOXS1_HUMAN forkhead box S1 217 anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis transcription factor complex chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1) 9 AAAGCCAAACGCTGGGCATGA 0.617000 20 241 1.15919e-05 1.23913e-05 1 1 0 MUC5B 727897 broad.mit.edu 37 11 1265999 1265999 + Missense_Mutation SNP T T C TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr11:1265999T>C ENST00000447027.1 + 31 7956 c.7898T>C c.(7897-7899)cTt>cCt p.L2633P RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.L2630P Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 2630 11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich. Missing (in Ref. 6; AAB61398). cell adhesion extracellular region extracellular matrix structural constituent|protein binding p.L2630P(1)|p.L2609P(1) cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) GCACGCACGCTTCCAGTGTGG 0.637000 8 435 0 0 1 0 0 TXNDC2 0 broad.mit.edu 37 18 9887074 9887074 + Missense_Mutation SNP G G A TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr18:9887074G>A ENST00000306084.6 + 2 797 c.598G>A c.(598-600)Gaa>Aaa p.E200K TXNDC2_ENST00000357775.4_Missense_Mutation_p.E133K|TXNDC2_ENST00000536353.2_Intron NM_001098529.1 NP_001091999.1 Q86VQ3 TXND2_HUMAN thioredoxin domain containing 2 (spermatozoa) 200 22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I. cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis cytoplasm electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1) 31 GTCCTCAGAAGAAGCCATCCA 0.577000 10 717 0 0 1 0 0 POTEF 728378 broad.mit.edu 37 2 130877733 130877733 + Missense_Mutation SNP G G A TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr2:130877733G>A ENST00000357462.5 - 1 449 c.356C>T c.(355-357)gCt>gTt p.A119V POTEF_ENST00000361163.4_Missense_Mutation_p.A119V|POTEF_ENST00000360967.5_Missense_Mutation_p.A119V|POTEF_ENST00000409914.2_Missense_Mutation_p.A119V A5A3E0 POTEF_HUMAN POTE ankyrin domain family, member F 119 cell cortex ATP binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 53 GTCTCCCCAAGCGCCCACCTT 0.587000 31 580 0 0 1 0 0 SDR9C7 121214 broad.mit.edu 37 12 57327752 57327752 + Silent SNP G G A TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr12:57327752G>A ENST00000293502.1 - 1 437 c.294C>T c.(292-294)ggC>ggT p.G98G NM_148897.2 NP_683695.1 Q8NEX9 DR9C7_HUMAN short chain dehydrogenase/reductase family 9C, member 7 98 cytoplasm binding|oxidoreductase activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|pancreas(1) 7 CACCTTGTTCGCCCACTTTGT 0.542000 6 470 0 0 1 0 0 MAP7 9053 broad.mit.edu 37 6 136681852 136681852 + Missense_Mutation SNP G G T TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr6:136681852G>T ENST00000354570.3 - 13 2196 c.1786C>A c.(1786-1788)Cgc>Agc p.R596S MAP7_ENST00000438100.2_Missense_Mutation_p.R581S|MAP7_ENST00000432797.2_Missense_Mutation_p.R450S|MAP7_ENST00000544465.1_Missense_Mutation_p.R581S|MAP7_ENST00000454590.1_Missense_Mutation_p.R618S NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4 NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1 Q14244 MAP7_HUMAN microtubule-associated protein 7 596 establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm receptor binding|structural molecule activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643) CTCTCCAGGCGCTCTTGCTCT 0.542000 19 1956 5.50884e-06 5.97112e-06 1 1 0 PRG4 10216 broad.mit.edu 37 1 186276229 186276229 + Missense_Mutation SNP A A G TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr1:186276229A>G ENST00000445192.2 + 7 1423 c.1378A>G c.(1378-1380)Aca>Gca p.T460A PRG4_ENST00000367486.3_Missense_Mutation_p.T417A|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Missense_Mutation_p.T419A|PRG4_ENST00000367485.4_Missense_Mutation_p.T367A NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 460 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity p.T460A(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CAAGGAGCCTACACCCACCAC 0.657000 8 447 0 0 1 0 0 TBC1D8 11138 broad.mit.edu 37 2 101666884 101666884 + Missense_Mutation SNP T T A TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr2:101666884T>A ENST00000409318.1 - 5 981 c.851A>T c.(850-852)gAg>gTg p.E284V TBC1D8_ENST00000376840.4_Missense_Mutation_p.E269V NM_001102426.1 NP_001095896.1 O95759 TBCD8_HUMAN TBC1 domain family, member 8 (with GRAM domain) 269 blood circulation|positive regulation of cell proliferation intracellular|membrane calcium ion binding|Rab GTPase activator activity breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 32 CTGGCTCGGCTCCTGCAGATC 0.562000 14 186 0 0 1 0 0 BNC2 54796 broad.mit.edu 37 9 16435989 16435989 + Missense_Mutation SNP C C T TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr9:16435989C>T ENST00000380672.4 - 6 2260 c.2203G>A c.(2203-2205)Gag>Aag p.E735K BNC2_ENST00000380666.2_Missense_Mutation_p.E735K|BNC2_ENST00000380667.2_Missense_Mutation_p.E668K|BNC2_ENST00000545497.1_Missense_Mutation_p.E640K NM_017637.5 NP_060107.3 Q6ZN30 BNC2_HUMAN basonuclin 2 735 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 60 GBM - Glioblastoma multiforme(50;9.01e-08) ATGGATTCCTCGCCCAGTTTG 0.512000 12 320 0 0 1 0 0 NUMA1 0 broad.mit.edu 37 11 71726747 71726747 + Missense_Mutation SNP G G A TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr11:71726747G>A ENST00000393695.3 - 15 2133 c.1802C>T c.(1801-1803)gCg>gTg p.A601V RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000351960.6_Intron|NUMA1_ENST00000358965.6_Missense_Mutation_p.A601V NM_006185.2 NP_006176.2 Q14980 NUMA1_HUMAN nuclear mitotic apparatus protein 1 601 G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole protein binding|structural molecule activity p.A601V(1) central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 65 CTTGAGAGCCGCATCCCGCTC 0.607000 T RARA APL OREG0021187 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 239 0 0 1 0 0 HCG17 0 broad.mit.edu 37 6 30227442 30227442 + RNA SNP T T G TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr6:30227442T>G ENST00000453558.1 - 0 126 HLA-L_ENST00000463348.1_RNA CTGCTGCTCTTGGGGGCCCTG 0.706000 4 129 0 0 1 0 0 HCG17 0 broad.mit.edu 37 6 30227449 30227449 + RNA SNP C C A TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr6:30227449C>A ENST00000453558.1 - 0 126 HLA-L_ENST00000463348.1_RNA TCTTGGGGGCCCTGGCCCTGA 0.716000 4 128 1.12685e-05 1.21293e-05 1 1 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128792 45128792 + RNA SNP G G T rs143713325 by1000genomes TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr17:45128792G>T ENST00000575173.1 - 0 418 AATTCAGGTTGTCAGAATGCA 0.373000 5 92 0.014758 0.0150493 1 1 0 CORO2A 7464 broad.mit.edu 37 9 100895437 100895437 + Silent SNP G G A TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr9:100895437G>A ENST00000343933.5 - 5 788 c.531C>T c.(529-531)agC>agT p.S177S CORO2A_ENST00000375077.4_Silent_p.S177S NM_003389.3 NP_003380.3 Q92828 COR2A_HUMAN coronin, actin binding protein, 2A 177 actin cytoskeleton organization|intracellular signal transduction actin cytoskeleton|transcriptional repressor complex actin filament binding endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1) 26 Acute lymphoblastic leukemia(62;0.0559) CTTGGTGACAGCTAATCGTAC 0.547000 5 361 0 0 1 0 0 SLC2A7 155184 broad.mit.edu 37 1 9067394 9067394 + Silent SNP G G A TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr1:9067394G>A ENST00000400906.1 - 10 1166 c.1167C>T c.(1165-1167)taC>taT p.Y389Y NM_207420.2 NP_997303.2 Q6PXP3 GTR7_HUMAN solute carrier family 2 (facilitated glucose transporter), member 7 389 integral to membrane|plasma membrane sugar transmembrane transporter activity NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2) 24 Ovarian(185;0.112)|all_lung(157;0.185) all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642) GTCCCGCGATGTAGGCAAAGA 0.642000 7 249 0 0 1 0 0 PCDH15 65217 broad.mit.edu 37 10 55587212 55587212 + Silent SNP C C G TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr10:55587212C>G ENST00000373965.2 - 33 4723 c.4329G>C c.(4327-4329)ccG>ccC p.P1443P PCDH15_ENST00000414778.1_Silent_p.P1438P|PCDH15_ENST00000320301.6_Silent_p.P1436P|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395433.1_Silent_p.P1411P|PCDH15_ENST00000395430.1_Silent_p.P1433P|PCDH15_ENST00000361849.3_Silent_p.P1436P|PCDH15_ENST00000395432.2_Silent_p.P1396P|PCDH15_ENST00000395445.1_Silent_p.P1443P|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000409834.1_Silent_p.P1047P|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000437009.1_Silent_p.P1365P|PCDH15_ENST00000395438.1_Silent_p.P1436P|PCDH15_ENST00000395442.1_Intron NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 1436 Poly-Pro. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) gcggcggcggcgggggcgCTG 0.582000 HNSCC(58;0.16) 6 293 0 0 1 0 0 ZKSCAN2 342357 broad.mit.edu 37 16 25255452 25255452 + Silent SNP C C G TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr16:25255452C>G ENST00000328086.7 - 6 2438 c.1635G>C c.(1633-1635)cgG>cgC p.R545R NM_001012981.4 NP_001012999.3 Q63HK3 ZKSC2_HUMAN zinc finger with KRAB and SCAN domains 2 545 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1) 36 GBM - Glioblastoma multiforme(48;0.0378) GTTCTGGTGTCCGGAGGAAGC 0.517000 14 520 0 0 1 0 0 ZNF222 0 broad.mit.edu 37 19 44536890 44536890 + Missense_Mutation SNP G G A TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr19:44536890G>A ENST00000187879.8 + 4 1225 c.1063G>A c.(1063-1065)Ggt>Agt p.G355S ZNF222_ENST00000391960.3_Missense_Mutation_p.G395S|ZNF223_ENST00000591793.1_Intron NM_013360.2 NP_037492.2 Q9UK12 ZN222_HUMAN zinc finger protein 222 355 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 20 Prostate(69;0.0435) TAGTAAGTCAGGTCTTGACTT 0.428000 6 448 0 0 1 0 0 PLEKHA5 54477 broad.mit.edu 37 12 19511180 19511180 + Missense_Mutation SNP G G A TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr12:19511180G>A ENST00000538714.1 + 23 2837 c.2833G>A c.(2833-2835)Gtg>Atg p.V945M PLEKHA5_ENST00000317589.4_Missense_Mutation_p.V950M|PLEKHA5_ENST00000539256.1_Missense_Mutation_p.V645M|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.V831M|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.V945M|PLEKHA5_ENST00000299275.6_Missense_Mutation_p.V887M|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.V869M|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.V876M|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.V1053M NM_001143821.2 NP_001137293.2 Q9HAU0 PKHA5_HUMAN pleckstrin homology domain containing, family A member 5 887 1-phosphatidylinositol binding|protein binding autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804) AAGAAGTGCAGTGGAACAGCT 0.373000 7 136 0 0 1 0 0 ZNF420 147923 broad.mit.edu 37 19 37619591 37619591 + Silent SNP A A G TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr19:37619591A>G ENST00000337995.3 + 5 1913 c.1698A>G c.(1696-1698)aaA>aaG p.K566K ZNF420_ENST00000304239.7_Intron|ZNF420_ENST00000586540.1_3'UTR|CTC-454I21.4_ENST00000587645.1_RNA|ZNF585A_ENST00000588723.1_Intron NM_144689.3 NP_653290.2 Q8TAQ5 ZN420_HUMAN zinc finger protein 420 566 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3) 27 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) AATGTGGGAAAGCCTTTATTC 0.428000 6 312 0 0 1 0 0 MCCC1 56922 broad.mit.edu 37 3 182733294 182733294 + Nonsense_Mutation SNP G G A TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr3:182733294G>A ENST00000492597.1 - 18 2485 c.1783C>T c.(1783-1785)Cag>Tag p.Q595* MCCC1_ENST00000265594.4_Nonsense_Mutation_p.Q704* Q96RQ3 MCCA_HUMAN methylcrotonoyl-CoA carboxylase 1 (alpha) 704 biotin metabolic process|leucine catabolic process mitochondrial inner membrane|mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2) 40 all_cancers(143;1.84e-14)|Ovarian(172;0.0355) all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21) Biotin(DB00121) CTGTTGGCCTGAGCACCTTCT 0.443000 51 633 0 0 1 0 0 GPM6B 2824 broad.mit.edu 37 X 13801502 13801502 + Silent SNP G G A TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chrX:13801502G>A ENST00000454189.2 - 3 457 c.330C>T c.(328-330)ggC>ggT p.G110G GPM6B_ENST00000316715.4_Silent_p.G169G|GPM6B_ENST00000398361.3_Silent_p.G43G|GPM6B_ENST00000355135.2_Silent_p.G169G|GPM6B_ENST00000356942.5_Silent_p.G129G|GPM6B_ENST00000493677.1_Silent_p.G143G NM_001001994.1 NP_001001994.1 Q13491 GPM6B_HUMAN glycoprotein M6B 129 cell differentiation|nervous system development integral to membrane central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|pancreas(1) 6 TGATGCATCGGCCACAAGCGG 0.428000 6 677 0 0 1 0 0 GTF3C3 9330 broad.mit.edu 37 2 197657782 197657782 + Silent SNP C C T TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr2:197657782C>T ENST00000263956.3 - 3 398 c.309G>A c.(307-309)gaG>gaA p.E103E GTF3C3_ENST00000409364.3_Silent_p.E103E NM_012086.4 NP_036218.1 Q9Y5Q9 TF3C3_HUMAN general transcription factor IIIC, polypeptide 3, 102kDa 103 Glu-rich. transcription factor TFIIIC complex DNA binding|protein binding p.E103E(1) breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 cctcctcctcctcttcttcct 0.468000 7 211 0 0 1 0 0 COL1A1 1277 broad.mit.edu 37 17 48273888 48273888 + Splice_Site SNP C C T TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr17:48273888C>T ENST00000225964.5 - 13 978 c.858_splice c.e13-1 p.G287_splice NM_000088.3 NP_000079.2 P02452 CO1A1_HUMAN collagen, type I, alpha 1 287 Triple-helical region. G -> S (in OI1). axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception collagen type I|extracellular space|plasma membrane identical protein binding|platelet-derived growth factor binding COL1A1/PDGFB(429) NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 Collagenase(DB00048)|Palifermin(DB00039) GCCAGGCTCACCCTGTAGATC 0.547000 T """PDGFB, USP6""" """dermatofibrosarcoma protuberans, aneurysmal bone cyst """ Osteogenesis imperfecta 43 624 0 0 1 0 0 F5 2153 broad.mit.edu 37 1 169510577 169510577 + Silent SNP A A G TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr1:169510577A>G ENST00000367796.3 - 13 3967 c.3766T>C c.(3766-3768)Tta>Cta p.L1256L F5_ENST00000367797.3_Silent_p.L1251L P12259 FA5_HUMAN coagulation factor V (proaccelerin, labile factor) 1251 35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1) 128 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) CTGAGGTCTAAAGAAAGGGTT 0.522000 7 1026 0 0 1 0 0 GLUD2 2747 broad.mit.edu 37 X 120181966 120181966 + Missense_Mutation SNP G G A TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chrX:120181966G>A ENST00000328078.1 + 1 505 c.428G>A c.(427-429)cGc>cAc p.R143H NM_012084.3 NP_036216.2 P49448 DHE4_HUMAN glutamate dehydrogenase 2 143 glutamate biosynthetic process|glutamate catabolic process mitochondrial matrix ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1) 38 L-Glutamic Acid(DB00142)|NADH(DB00157) AGCCAGCACCGCACGCCCTGC 0.567000 5 332 0 0 1 0 0 CSAG4 0 broad.mit.edu 37 X 151896589 151896589 + RNA SNP C C A TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chrX:151896589C>A ENST00000361201.4 - 0 351 NR_073432.1 p.L11F(1) endometrium(2)|kidney(2)|lung(1) 5 GGTTGTTGGACAATGGGCTGG 0.557000 11 656 1.41608e-15 1.66282e-15 1 1 0 ACR 49 broad.mit.edu 37 22 51177896 51177896 + Missense_Mutation SNP G G A TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr22:51177896G>A ENST00000216139.5 + 2 315 c.275G>A c.(274-276)gGc>gAc p.G92D ACR_ENST00000529621.1_Missense_Mutation_p.G92D NM_001097.2 NP_001088.2 P10323 ACRO_HUMAN acrosin 92 Peptidase S1. acrosome matrix dispersal|activation of adenylate cyclase activity acrosomal matrix|protein complex amidase activity|copper ion binding|DNA binding|drug binding|fucose binding|mannose binding|protein binding|serine-type endopeptidase activity|zinc ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1) 7 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247) TGCTTCGTCGGCAAAAAGTAC 0.577000 4 119 0 0 1 0 0 NACA 4666 broad.mit.edu 37 12 57111912 57111912 + Silent SNP G G A rs2926744 TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr12:57111912G>A ENST00000454682.1 - 3 3683 c.3402C>T c.(3400-3402)ccC>ccT p.P1134P NACA_ENST00000548563.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000552540.1_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 0 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 CTTTTGGGGAGGGAGGAGTTG 0.642000 T BCL6 NHL 4 176 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158636124 158636124 + Silent SNP C C T TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr1:158636124C>T ENST00000368148.3 - 16 2382 c.2202G>A c.(2200-2202)tcG>tcA p.S734S SPTA1_ENST00000368147.3_Silent_p.S734S NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 734 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) CAGCCACAGCCGACTCCAGGA 0.502000 8 171 0 0 1 0 0 AKAP12 9590 broad.mit.edu 37 6 151669953 151669953 + Missense_Mutation SNP C C A TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr6:151669953C>A ENST00000402676.2 + 4 667 c.427C>A c.(427-429)Ccc>Acc p.P143T AKAP12_ENST00000354675.6_Missense_Mutation_p.P45T|AKAP12_ENST00000253332.1_Missense_Mutation_p.P143T|AKAP12_ENST00000490177.1_3'UTR|AKAP12_ENST00000359755.5_Missense_Mutation_p.P38T NM_005100.3 NP_005091.2 Q02952 AKA12_HUMAN A kinase (PRKA) anchor protein 12 143 TPEI -> NRN (in Ref. 1; AAC51366). G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting cell cortex|cytoskeleton|plasma membrane adenylate cyclase binding|protein kinase A binding breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 68 Ovarian(120;0.125) BRCA - Breast invasive adenocarcinoma(37;0.175) OV - Ovarian serous cystadenocarcinoma(155;2.98e-11) GGAGGAGACACCCGAAATAAT 0.438000 11 299 4.68919e-08 5.26684e-08 1 1 0 TMEM164 84187 broad.mit.edu 37 X 109352318 109352318 + Missense_Mutation SNP C C A TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chrX:109352318C>A ENST00000372073.1 + 4 787 c.451C>A c.(451-453)Cac>Aac p.H151N TMEM164_ENST00000372068.2_Missense_Mutation_p.H151N|TMEM164_ENST00000288381.4_Intron|TMEM164_ENST00000372072.3_Missense_Mutation_p.H2N Q5U3C3 TM164_HUMAN transmembrane protein 164 151 integral to membrane cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|skin(1) 14 GCTACAGATGCACATGTTGAA 0.458000 8 907 1.06961e-07 1.19273e-07 1 1 0 MAGEC1 9947 broad.mit.edu 37 X 140995016 140995016 + Missense_Mutation SNP T T A TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chrX:140995016T>A ENST00000285879.4 + 4 2112 c.1826T>A c.(1825-1827)cTc>cAc p.L609H MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 609 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) ATGTCTCCTCTCTACTTTCCT 0.572000 HNSCC(15;0.026) 11 1469 0 0 1 0 0 FSTL5 56884 broad.mit.edu 37 4 162459317 162459317 + Splice_Site SNP C C T TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr4:162459317C>T ENST00000306100.5 - 10 1749 c.e10+1 FSTL5_ENST00000536695.1_Splice_Site|FSTL5_ENST00000427802.2_Splice_Site|FSTL5_ENST00000379164.4_Splice_Site NM_001128427.2|NM_020116.4 NP_001121899.1|NP_064501.2 Q8N475 FSTL5_HUMAN follistatin-like 5 extracellular region calcium ion binding central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 91 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) TCTATACATACGGGTCTTTCT 0.393000 11 660 0 0 1 0 0 RNF149 284996 broad.mit.edu 37 2 101898332 101898332 + Missense_Mutation SNP G G A TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr2:101898332G>A ENST00000295317.3 - 6 1255 c.1148C>T c.(1147-1149)aCg>aTg p.T383M NM_173647.3 NP_775918.2 Q8NC42 RN149_HUMAN ring finger protein 149 383 integral to membrane ligase activity|zinc ion binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1) 12 TAGCAATGCCGTATTTTCTCC 0.488000 5 411 0 0 1 0 0 TUBBP5 0 broad.mit.edu 37 9 141070768 141070768 + RNA SNP C C T rs4609262 by1000genomes TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr9:141070768C>T ENST00000503395.1 + 0 1543 GCTGTGACTGCCTGCAGGGTT 0.617000 4 85 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C A rs121913529 TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr12:25398284C>A ENST00000311936.3 - 2 226 c.35G>T c.(34-36)gGt>gTt p.G12V KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 7 180 0.335167 0.337344 1 1 0 ME2 4200 broad.mit.edu 37 18 48447031 48447031 + Splice_Site SNP G G A TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr18:48447031G>A ENST00000321341.5 + 9 1117 c.844_splice c.e9-1 p.G282_splice ME2_ENST00000382927.3_Splice_Site_p.G282_splice NM_002396.4 NP_002387.1 P23368 MAOM_HUMAN malic enzyme 2, NAD(+)-dependent, mitochondrial 282 malate metabolic process mitochondrial matrix electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3) 23 Colorectal(6;0.0273)|all_epithelial(6;0.118) Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184) NADH(DB00157) TTTCTTACAGGGACAGCTGCA 0.348000 19 327 0 0 1 0 0 PRSS3P2 0 broad.mit.edu 37 7 142482242 142482242 + RNA SNP G G A rs143538588 by1000genomes TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr7:142482242G>A ENST00000603901.1 + 0 622 NR_001296.3 GGTCTGCAATGGACAGCTTCA 0.493000 5 117 0 0 1 0 0 RP11-3P17.4 0 broad.mit.edu 37 3 161147301 161147301 + RNA SNP A A G TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr3:161147301A>G ENST00000473595.1 + 0 1350 RP11-3P17.5_ENST00000602890.1_lincRNA NR_102265.1 ACACCTTTCAACACTGCCTTC 0.552000 5 325 0 0 1 0 0 OSBPL6 114880 broad.mit.edu 37 2 179197717 179197717 + Silent SNP G G A TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr2:179197717G>A ENST00000190611.4 + 8 982 c.606G>A c.(604-606)acG>acA p.T202T OSBPL6_ENST00000409631.1_Silent_p.T202T|OSBPL6_ENST00000357080.4_Silent_p.T202T|OSBPL6_ENST00000392505.2_Silent_p.T202T|OSBPL6_ENST00000409045.3_Silent_p.T202T|OSBPL6_ENST00000359685.3_Silent_p.T202T|OSBPL6_ENST00000315022.2_Silent_p.T181T NM_032523.3 NP_115912.1 Q9BZF3 OSBL6_HUMAN oxysterol binding protein-like 6 202 lipid transport lipid binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335) TTCCTTCAACGTCCACAGCTG 0.393000 5 322 0 0 1 0 0 AC024560.3 0 broad.mit.edu 37 3 197348646 197348646 + RNA SNP T T C rs138265355 by1000genomes TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr3:197348646T>C ENST00000418868.1 - 0 613 NR_003266.2 TGGGCCTGCCTGCCCTTTCCA 0.532000 6 251 0 0 1 0 0 TRNT1 51095 broad.mit.edu 37 3 3189309 3189309 + Silent SNP A A C TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr3:3189309A>C ENST00000251607.6 + 7 1080 c.978A>C c.(976-978)atA>atC p.I326I TRNT1_ENST00000280591.6_Silent_p.I306I NM_182916.2 NP_886552.2 Q96Q11 TRNT1_HUMAN tRNA nucleotidyl transferase, CCA-adding, 1 326 protein targeting to mitochondrion|tRNA 3'-end processing mitochondrion ATP binding|tRNA adenylyltransferase activity|tRNA binding breast(2)|endometrium(3)|large_intestine(4)|lung(2)|urinary_tract(1) 12 Epithelial(13;0.00226)|OV - Ovarian serous cystadenocarcinoma(96;0.00592)|all cancers(10;0.011) GCTTATTTATAGTTAAAAATA 0.328000 7 315 0 0 1 0 0 ZNF195 0 broad.mit.edu 37 11 3380510 3380510 + Silent SNP T T C TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr11:3380510T>C ENST00000354599.6 - 4 1616 c.1512A>G c.(1510-1512)aaA>aaG p.K504K ZNF195_ENST00000399602.4_Silent_p.K576K|ZNF195_ENST00000429541.2_Silent_p.K508K|ZNF195_ENST00000526601.1_Silent_p.K557K|ZNF195_ENST00000343338.7_Silent_p.K508K|ZNF195_ENST00000005082.9_Silent_p.K553K|ZNF195_ENST00000528796.1_Intron NM_001242843.1|NM_001256825.1|NM_007152.4 NP_001229772.1|NP_001243754.1|NP_009083.2 O14628 ZN195_HUMAN zinc finger protein 195 576 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1) 17 Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965) BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2) ATTTGTAGGGTTTCTCTCCAG 0.393000 6 447 0 0 1 0 0 TUBAL3 79861 broad.mit.edu 37 10 5443000 5443000 + Silent SNP G G A rs148158899 TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr10:5443000G>A ENST00000380419.3 - 2 91 c.54C>T c.(52-54)gaC>gaT p.D18D TUBAL3_ENST00000479328.1_Intron NM_024803.2 NP_079079.1 A6NHL2 TBAL3_HUMAN tubulin, alpha-like 3 18 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3) 25 CCCAGCAGGCGTCCCCAATCT 0.483000 15 370 0 0 1 0 0 DGKH 160851 broad.mit.edu 37 13 42761256 42761256 + Missense_Mutation SNP C C T TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr13:42761256C>T ENST00000379274.2 + 14 1631 c.1202C>T c.(1201-1203)gCc>gTc p.A401V DGKH_ENST00000261491.4_Missense_Mutation_p.A537V|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000540693.1_Missense_Mutation_p.A537V|DGKH_ENST00000538674.1_Missense_Mutation_p.A292V|DGKH_ENST00000536612.1_Missense_Mutation_p.A401V|DGKH_ENST00000337343.4_Missense_Mutation_p.A537V Q86XP1 DGKH_HUMAN diacylglycerol kinase, eta 537 DAGKc. 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) TTGGAAAATGCCGTTGTAGCT 0.418000 5 413 0 0 1 0 0 UBBP4 0 broad.mit.edu 37 17 21730916 21730916 + Missense_Mutation SNP G G T rs111245273 by1000genomes TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr17:21730916G>T ENST00000584755.1 + 2 615 c.218G>T c.(217-219)cGg>cTg p.R73L UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000578713.1_Missense_Mutation_p.R73L|UBBP4_ENST00000583708.1_Intron p.R73L(24) endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GTCCTGCGTCGGAGAGGTGGT 0.552000 7 246 2.17888e-05 2.29746e-05 1 1 0 MUC21 394263 broad.mit.edu 37 6 30955025 30955025 + Missense_Mutation SNP G G A rs55763085 TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr6:30955025G>A ENST00000376296.3 + 2 1314 c.1073G>A c.(1072-1074)aGc>aAc p.S358N MUC21_ENST00000486149.2_5'UTR NM_001010909.2 NP_001010909.2 Q5SSG8 MUC21_HUMAN mucin 21, cell surface associated 358 28 X 15 AA approximate tandem repeats.|Ser-rich. integral to membrane|plasma membrane p.S358N(1) NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 AGTGGGGCCAGCACAGCCACC 0.642000 8 1175 0 0 1 0 0 SCN4A 6329 broad.mit.edu 37 17 62022892 62022892 + Missense_Mutation SNP G G A TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr17:62022892G>A ENST00000435607.1 - 19 3624 c.3548C>T c.(3547-3549)gCc>gTc p.A1183V SCN4A_ENST00000578147.1_Missense_Mutation_p.A1183V NM_000334.4 NP_000325.4 P35499 SCN4A_HUMAN sodium channel, voltage-gated, type IV, alpha subunit 1183 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity p.A1183V(1) breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 101 Lamotrigine(DB00555) GAACTTGCCGGCAAACAGGTT 0.542000 8 1103 0 0 1 0 0 ZNF878 729747 broad.mit.edu 37 19 12155673 12155673 + Missense_Mutation SNP A A C TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr19:12155673A>C ENST00000602107.1 - 5 683 c.684T>G c.(682-684)agT>agG p.S228R CTD-2006C1.10_ENST00000547473.1_Intron|ZNF878_ENST00000547628.1_Missense_Mutation_p.S181R|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA C9JN71 ZN878_HUMAN zinc finger protein 878 181 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1) 8 AACTGGGAAAACTGAATGCTT 0.403000 8 960 0 0 1 0 0 SCFD2 152579 broad.mit.edu 37 4 53751931 53751931 + Silent SNP A A G TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr4:53751931A>G ENST00000401642.3 - 8 2078 c.1945T>C c.(1945-1947)Ttg>Ctg p.L649L SCFD2_ENST00000388940.4_Silent_p.L604L NM_152540.3 NP_689753.2 Q8WU76 SCFD2_HUMAN sec1 family domain containing 2 649 protein transport|vesicle docking involved in exocytosis breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 30 GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134) CCTGGCTTCAACGATGCCACA 0.547000 4 287 0 0 1 0 0 FANCD2 2177 broad.mit.edu 37 3 10108928 10108928 + Missense_Mutation SNP G G T rs141356656 by1000genomes TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr3:10108928G>T ENST00000287647.3 + 26 2514 c.2421G>T c.(2419-2421)gaG>gaT p.E807D FANCD2_ENST00000383807.1_Missense_Mutation_p.E807D|FANCD2_ENST00000383806.1_Missense_Mutation_p.E807D|FANCD2_ENST00000419585.1_Missense_Mutation_p.E807D NM_033084.3 NP_149075.2 Q9BXW9 FACD2_HUMAN Fanconi anemia, complementation group D2 807 DNA repair|response to gamma radiation nucleoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 51 OV - Ovarian serous cystadenocarcinoma(96;0.148) CATCACCTGAGATGAAGGGGA 0.373000 """D, Mis, N, F""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 5 142 5.18039e-06 5.65465e-06 1 1 0 TCHH 7062 broad.mit.edu 37 1 152082606 152082606 + Silent SNP T T C TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr1:152082606T>C ENST00000368804.1 - 2 3086 c.3087A>G c.(3085-3087)gaA>gaG p.E1029E NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 1029 10 X 30 AA tandem repeats. keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GCTGCTCTTCTTCCTGCTGCA 0.582000 8 777 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145327548 145327548 + Missense_Mutation SNP A A G TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr1:145327548A>G ENST00000342960.5 + 32 4140 c.4105A>G c.(4105-4107)Aat>Gat p.N1369D NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 1369 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) GGACTCACTGAATAGATGTTA 0.473000 4 36 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578469 7578469 + Missense_Mutation SNP C C A TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr17:7578469C>A ENST00000420246.2 - 5 593 c.461G>T c.(460-462)gGc>gTc p.G154V TP53_ENST00000445888.2_Missense_Mutation_p.G154V|TP53_ENST00000269305.4_Missense_Mutation_p.G154V|TP53_ENST00000359597.4_Missense_Mutation_p.G154V|TP53_ENST00000413465.2_Missense_Mutation_p.G154V|TP53_ENST00000455263.2_Missense_Mutation_p.G154V NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 154 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. G -> A (in sporadic cancers; somatic mutation).|G -> C (in a sporadic cancer; somatic mutation).|G -> D (in sporadic cancers; somatic mutation).|G -> I (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> S (in sporadic cancers; somatic mutation).|G -> V (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.G154V(46)|p.0?(8)|p.G154D(6)|p.?(5)|p.P152fs*14(5)|p.G61V(3)|p.G22V(3)|p.G154I(3)|p.T155_R156insDSTPPPGT(3)|p.G154fs*14(2)|p.P153fs*26(2)|p.P153fs*22(2)|p.T23_R24insDSTPPPGT(1)|p.P151_V173del23(1)|p.D148_T155delDSTPPPGT(1)|p.G154A(1)|p.D148fs*23(1)|p.T62_R63insDSTPPPGT(1)|p.Q144_G154del11(1)|p.S149fs*72(1)|p.G154fs*22(1)|p.G154_R156delGTR(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GACGCGGGTGCCGGGCGGGGG 0.607000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 15 250 1.02788e-11 1.18016e-11 1 1 0 ATRX 546 broad.mit.edu 37 X 76949326 76949326 + Silent SNP G G T TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chrX:76949326G>T ENST00000373344.5 - 6 685 c.471C>A c.(469-471)ctC>ctA p.L157L ATRX_ENST00000395603.3_Intron|ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000373341.1_Silent_p.L118L NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 157 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) CGCGTTTTTTGAGATTTTCAG 0.348000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 10 271 3.62473e-10 4.13113e-10 1 1 0 ATP1A4 480 broad.mit.edu 37 1 160134114 160134114 + Missense_Mutation SNP C C T rs139847892 byFrequency TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr1:160134114C>T ENST00000368081.4 + 7 1418 c.947C>T c.(946-948)gCg>gTg p.A316V NM_144699.3 NP_653300.2 Q13733 AT1A4_HUMAN ATPase, Na+/K+ transporting, alpha 4 polypeptide 316 ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility sodium:potassium-exchanging ATPase complex ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity p.A316V(1) breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 75 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) ACTTTTTTTGCGCTCTCACTT 0.527000 6 707 0 0 1 0 0 RERE 473 broad.mit.edu 37 1 8716284 8716285 + Frame_Shift_Del DEL TC TC - TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr1:8716284_8716285delTC ENST00000337907.3 - 3 706_707 c.72_73delGA c.(70-75)gaaafs p.EK24fs RERE_ENST00000400907.2_Frame_Shift_Del_p.EK24fs|RERE_ENST00000400908.2_Frame_Shift_Del_p.EK24fs NM_012102.3 NP_036234.3 Q9P2R6 RERE_HUMAN arginine-glutamic acid dipeptide (RE) repeats 24 multicellular organismal development|NLS-bearing substrate import into nucleus mitochondrion poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Ovarian(185;0.0661) all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195) TTGTCTCTTTTCtctctctctc 0.505 14 702 --- --- --- --- ZBTB40 9923 broad.mit.edu 37 1 22838561 22838563 + In_Frame_Del DEL AAG AAG - TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr1:22838561_22838563delAAG ENST00000404138.1 + 12 2906_2908 c.2395_2397delAAG c.(2395-2397)del p.K803del ZBTB40_ENST00000375647.4_In_Frame_Del_p.K803del|ZBTB40_ENST00000374651.4_In_Frame_Del_p.K691del NM_001083621.1 NP_001077090.1 Q9NUA8 ZBT40_HUMAN zinc finger and BTB domain containing 40 803 bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 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;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216) CGATGCCCCCAAGAAGAAGAAGA 0.517 14 320 --- --- --- --- ZBTB8A 653121 broad.mit.edu 37 1 33065979 33065981 + In_Frame_Del DEL GAA GAA - TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr1:33065979_33065981delGAA ENST00000373510.4 + 5 1514_1516 c.1285_1287delGAA c.(1285-1287)del p.E433del RP1-27O5.3_ENST00000480336.1_3'UTR|ZBTB8OS_ENST00000341885.5_Intron|ZBTB8A_ENST00000316459.4_3'UTR NM_001040441.1 NP_001035531.1 Q96BR9 ZBT8A_HUMAN zinc finger and BTB domain containing 8A 433 Poly-Glu. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(2)|large_intestine(2)|lung(2)|prostate(1) 7 TGATGATAGTGAAGAAGAAGAAG 0.414 7 333 --- --- --- --- CYP4Z2P 0 broad.mit.edu 37 1 47325313 47325315 + RNA DEL GTT GTT - TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr1:47325313_47325315delGTT ENST00000505841.1 - 0 1204 NR_002788.2 AAAAAAAAAAGTTGTTTTAAGAC 0.409 15 306 --- --- --- --- LRRIQ3 127255 broad.mit.edu 37 1 74575212 74575213 + Frame_Shift_Ins INS - - T TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr1:74575212_74575213insT ENST00000354431.4 - 5 923_924 c.732_733insA c.(730-735)aaagcafs p.A245fs LRRIQ3_ENST00000395089.1_Frame_Shift_Ins_p.A245fs|LRRIQ3_ENST00000370909.2_Frame_Shift_Ins_p.A137fs|LRRIQ3_ENST00000468759.1_5'UTR NM_001105659.1 NP_001099129.1 A6PVS8 LRIQ3_HUMAN leucine-rich repeats and IQ motif containing 3 245 QQEKII -> TAGKNY (in Ref. 1; BAD18621). NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5) 73 TTTTCCTGCTGTTTTTTTTTGT 0.327 15 300 --- --- --- --- SLC25A24 29957 broad.mit.edu 37 1 108700183 108700183 + Frame_Shift_Del DEL T T - TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr1:108700183delT ENST00000565488.1 - 5 789 c.570delA c.(568-570)aafs p.K190fs SLC25A24_ENST00000370041.4_Frame_Shift_Del_p.K171fs NM_013386.4 NP_037518.3 Q6NUK1 SCMC1_HUMAN solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24 190 transmembrane transport integral to membrane|mitochondrial inner membrane calcium ion binding p.K171fs*29(1)|p.K190fs*29(1) endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 16 all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211) Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134) ATTGTCCGGATTTTTTTTCGT 0.453 7 455 --- --- --- --- TRIM33 51592 broad.mit.edu 37 1 114968116 114968118 + In_Frame_Del DEL TGT TGT - TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr1:114968116_114968118delTGT ENST00000358465.2 - 9 1731_1733 c.1648_1650delACA c.(1648-1650)del p.T550del TRIM33_ENST00000369543.2_In_Frame_Del_p.T550del|TRIM33_ENST00000450349.2_In_Frame_Del_p.T158del NM_015906.3 NP_056990.3 Q9UPN9 TRI33_HUMAN tripartite motif containing 33 550 Poly-Thr. negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent nucleus co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 48 all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184) all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|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) GATGCTGTTGTGTTGTTGTTGTT 0.429 T RET papillary thyroid 8 1043 --- --- --- --- NGF 4803 broad.mit.edu 37 1 115828721 115828722 + Frame_Shift_Del DEL CA CA - TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr1:115828721_115828722delCA ENST00000369512.2 - 3 863_864 c.695_696delTG c.(694-696)gfs p.V232fs RP4-663N10.1_ENST00000425449.1_RNA NM_002506.2 NP_002497.2 P01138 NGF_HUMAN nerve growth factor (beta polypeptide) 232 activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction endosome|Golgi lumen growth factor activity|nerve growth factor receptor binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 13 Lung SC(450;0.211) all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179) Clenbuterol(DB01407) TCCTGCTGAGCACACACACACA 0.579 7 450 --- --- --- --- RP11-343N15.1 0 broad.mit.edu 37 1 121116645 121116645 + RNA DEL T T - TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr1:121116645delT ENST00000437515.1 - 0 329 CAAGCCCCCCTTTAAAAAAAA 0.393 16 246 --- --- --- --- NES 10763 broad.mit.edu 37 1 156642804 156642804 + Frame_Shift_Del DEL G G - TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr1:156642804delG ENST00000368223.3 - 4 1308 c.1176delC c.(1174-1176)ccfs p.P392fs NM_006617.1 NP_006608.1 P48681 NEST_HUMAN nestin 392 Tail. brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4) 64 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CCTGAGGTGTGGGGGGGATGG 0.597 8 876 --- --- --- --- PRRC2C 23215 broad.mit.edu 37 1 171511148 171511149 + Frame_Shift_Ins INS - - A TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr1:171511148_171511149insA ENST00000367742.3 + 16 4785_4786 c.4543_4544insA c.(4543-4545)aaafs p.K1515fs PRRC2C_ENST00000338920.4_Frame_Shift_Ins_p.K1513fs|PRRC2C_ENST00000392078.3_Frame_Shift_Ins_p.K1515fs|PRRC2C_ENST00000426496.2_Frame_Shift_Ins_p.K1513fs Q9Y520 PRC2C_HUMAN proline-rich coiled-coil 2C 1513 protein C-terminus binding AGAGAGGGATGAAAAAAAAAAT 0.391 14 259 --- --- --- --- CACNA1E 777 broad.mit.edu 37 1 181680102 181680103 + Frame_Shift_Del DEL AG AG - TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr1:181680102_181680103delAG ENST00000526775.1 + 8 1233_1234 c.1068_1069delAG c.(1066-1071)aaagfs p.KE356fs CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000367573.2_Frame_Shift_Del_p.KE356fs|CACNA1E_ENST00000367570.1_Frame_Shift_Del_p.KE356fs|CACNA1E_ENST00000357570.5_Frame_Shift_Del_p.KE307fs|CACNA1E_ENST00000360108.3_Frame_Shift_Del_p.KE356fs|CACNA1E_ENST00000358338.5_Frame_Shift_Del_p.KE307fs NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 356 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 AATTTGCCAAAGAGAGAGAGAG 0.510 14 390 --- --- --- --- PRG4 10216 broad.mit.edu 37 1 186276386 186276388 + In_Frame_Del DEL AGG AGG - TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr1:186276386_186276388delAGG ENST00000445192.2 + 7 1580_1582 c.1535_1537delAGG c.(1534-1539)aag>a p.KE512del PRG4_ENST00000367485.4_In_Frame_Del_p.KE419del|PRG4_ENST00000367483.4_In_Frame_Del_p.KE471del|PRG4_ENST00000367486.3_In_Frame_Del_p.KE469del|PRG4_ENST00000367484.3_Intron NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 512 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 ACCACCACCAAGGAGCCTTCACC 0.640 8 753 --- --- --- --- TSPYL6 388951 broad.mit.edu 37 2 54482718 54482719 + Frame_Shift_Ins INS - - C TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr2:54482718_54482719insC ENST00000317802.7 - 1 690_691 c.570_571insG c.(568-573)ggccggfs p.R191fs ACYP2_ENST00000607452.1_Intron|ACYP2_ENST00000606865.1_Intron|ACYP2_ENST00000394666.3_Intron|ACYP2_ENST00000303536.4_Intron NM_001003937.2 NP_001003937.2 Q8N831 TSYL6_HUMAN TSPY-like 6 191 nucleosome assembly nucleus NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2) 20 CCGGGCCCGGGCCCAGGCCCTG 0.614 10 208 --- --- --- --- USP40 55230 broad.mit.edu 37 2 234394236 234394237 + Frame_Shift_Ins INS - - T TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr2:234394236_234394237insT ENST00000251722.6 - 30 3558_3559 c.3441_3442insA c.(3439-3444)aaaagafs p.R1148fs USP40_ENST00000427112.2_Frame_Shift_Ins_p.R1148fs|USP40_ENST00000496298.1_5'UTR|USP40_ENST00000450966.1_Frame_Shift_Ins_p.R1160fs Q9NVE5 UBP40_HUMAN ubiquitin specific peptidase 40 1148 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 30 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539) Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646) AAATAATCTTGTTTTTTTTTCT 0.337 8 227 --- --- --- --- PDCD6IP 10015 broad.mit.edu 37 3 33866811 33866811 + Frame_Shift_Del DEL T T - TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr3:33866811delT ENST00000307296.3 + 5 972 c.595delT c.(595-597)ttfs p.F200fs PDCD6IP_ENST00000457054.2_Frame_Shift_Del_p.F200fs Q8WUM4 PDC6I_HUMAN programmed cell death 6 interacting protein 200 BRO1.|Interaction with CHMP4A, CHMP4B and CHMP4C.|Interaction with EIAV p9. apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport cytosol|melanosome|microtubule organizing center calcium-dependent protein binding central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1) 23 TCAAGAAGTATTTTTTTTAAA 0.368 8 476 --- --- --- --- HERC5 51191 broad.mit.edu 37 4 89381265 89381266 + Frame_Shift_Ins INS - - A TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr4:89381265_89381266insA ENST00000264350.3 + 3 562_563 c.409_410insA c.(409-411)aaafs p.K137fs HERC5_ENST00000508695.1_3'UTR NM_016323.3 NP_057407.2 Q9UII4 HERC5_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 5 137 innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus cytosol|perinuclear region of cytoplasm ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4) 53 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000209) CATTTTACAAGAAAAAAAAATA 0.272 10 212 --- --- --- --- BRD9 65980 broad.mit.edu 37 5 889776 889777 + Frame_Shift_Ins INS - - A TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr5:889776_889777insA ENST00000323510.4 - 1 37_38 c.38_39insT c.(37-39)tctfs p.S13fs BRD9_ENST00000435709.2_Frame_Shift_Ins_p.S13fs|BRD9_ENST00000483173.1_Intron|BRD9_ENST00000467963.1_Intron|BRD9_ENST00000388890.4_Frame_Shift_Ins_p.S13fs Q9H8M2 BRD9_HUMAN bromodomain containing 9 0 nucleic acid binding breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3) 29 Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185) ACAATTTAAGGAAAAAAAAATT 0.446 9 373 --- --- --- --- DNAH5 1767 broad.mit.edu 37 5 13754371 13754372 + Frame_Shift_Ins INS - - C rs148592658 TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr5:13754371_13754372insC ENST00000265104.4 - 62 10599_10600 c.10495_10496insG c.(10495-10497)aaafs p.K3499fs NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3499 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.E3499K(1) NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TCTTTCTTTTTCACCTGCCAAG 0.411 Kartagener syndrome 8 490 --- --- --- --- ZFR 51663 broad.mit.edu 37 5 32419951 32419953 + In_Frame_Del DEL GGT GGT - TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr5:32419951_32419953delGGT ENST00000265069.8 - 3 495_497 c.393_395delACC c.(391-396)ccc>cc p.PP131del NM_016107.3 NP_057191.2 Q96KR1 ZFR_HUMAN zinc finger RNA binding protein 131 Ala-rich. multicellular organismal development chromosome|cytoplasm|nucleus DNA binding|RNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2) 32 STAD - Stomach adenocarcinoma(35;0.19) AGTAGCTGGGGGTGGTGGTGGTG 0.483 8 863 --- --- --- --- MSH3 4437 broad.mit.edu 37 5 79970915 79970915 + Frame_Shift_Del DEL A A - TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr5:79970915delA ENST00000265081.6 + 7 1221 c.1141delA c.(1141-1143)aafs p.K383fs NM_002439.4 NP_002430.3 P20585 MSH3_HUMAN mutS homolog 3 383 maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments MutSbeta complex|nuclear chromosome ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244) OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33) TGTTAGGGACAAAAAAAAGGG 0.348 Mismatch excision repair (MMR) 15 655 --- --- --- --- PCDHB4 0 broad.mit.edu 37 5 140502486 140502487 + Frame_Shift_Ins INS - - A TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr5:140502486_140502487insA ENST00000194152.1 + 1 906_907 c.906_907insA c.(904-909)ttaaaafs p.LK302fs NM_018938.2 NP_061761.1 Q9Y5E5 PCDB4_HUMAN 302 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding p.K305fs*12(1) autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 67 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AAATACTGTTGAAAAAAAAATT 0.366 8 694 --- --- --- --- MAS1L 116511 broad.mit.edu 37 6 29455156 29455157 + Frame_Shift_Del DEL AC AC - TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr6:29455156_29455157delAC ENST00000377127.3 - 1 581_582 c.523_524delGT c.(523-525)cfs p.V175fs NM_052967.1 NP_443199.1 P35410 MAS1L_HUMAN MAS1 oncogene-like 175 cytoplasm|integral to membrane|nucleus|plasma membrane G-protein coupled receptor activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2) 28 GGGGAAGAGGACACACACACAC 0.495 7 283 --- --- --- --- HLA-DRB6 0 broad.mit.edu 37 6 32522379 32522380 + RNA INS - - C rs112115106 TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr6:32522379_32522380insC ENST00000411500.1 - 0 740 NR_001298.1 TGAAAATAGGATTGGGAGAGTA 0.475 12 52 --- --- --- --- HLA-DRB6 0 broad.mit.edu 37 6 32522756 32522756 + RNA DEL A A - TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr6:32522756delA ENST00000411500.1 - 0 458 NR_001298.1 GGACTAGGAGAAAAAAAGGTA 0.517 9 54 --- --- --- --- TREML2 79865 broad.mit.edu 37 6 41168714 41168716 + In_Frame_Del DEL CAG CAG - TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr6:41168714_41168716delCAG ENST00000483722.1 - 1 216_218 c.31_33delCTG c.(31-33)del p.L11del NM_024807.2 NP_079083.2 Q5T2D2 TRML2_HUMAN triggering receptor expressed on myeloid cells-like 2 11 T cell activation cell surface|integral to membrane|plasma membrane protein binding|receptor activity breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1) 18 Ovarian(28;0.0418)|Colorectal(47;0.196) CCTGTGGCCACAGCAGCAGCAGC 0.631 10 161 --- --- --- --- MDFI 4188 broad.mit.edu 37 6 41621169 41621171 + In_Frame_Del DEL CTG CTG - TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr6:41621169_41621171delCTG ENST00000373050.4 + 4 601_603 c.414_416delCTG c.(412-417)ctc>ct p.LC138del Q99750 MDFI_HUMAN MyoD family inhibitor 199 cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway cytoplasm|nucleus endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1) 8 Ovarian(28;0.0327)|Colorectal(47;0.121) Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138) ACTCGTGCCTCTGCTGCTGCTGC 0.655 9 559 --- --- --- --- GABRR1 2569 broad.mit.edu 37 6 89891719 89891721 + In_Frame_Del DEL AAG AAG - TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr6:89891719_89891721delAAG ENST00000435811.1 - 7 1255_1257 c.801_803delCTT c.(799-804)ttg>tt p.FL267del GABRR1_ENST00000369451.3_In_Frame_Del_p.FL197del|GABRR1_ENST00000454853.2_In_Frame_Del_p.FL284del NM_001256703.1 NP_001243632.1 P24046 GBRR1_HUMAN gamma-aminobutyric acid (GABA) A receptor, rho 1 284 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 35 all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114) BRCA - Breast invasive adenocarcinoma(108;0.00917) Picrotoxin(DB00466) AGTTTGGAGCAAGAAGAAGAAGA 0.522 8 457 --- --- --- --- DTX2 113878 broad.mit.edu 37 7 76112249 76112249 + Frame_Shift_Del DEL A A - rs147779783 byFrequency TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr7:76112249delA ENST00000324432.5 + 5 1203 c.693delA c.(691-693)ccfs p.P231fs DTX2_ENST00000307569.8_Frame_Shift_Del_p.P231fs|DTX2_ENST00000430490.2_Frame_Shift_Del_p.P231fs|DTX2_ENST00000446820.2_Frame_Shift_Del_p.P231fs|DTX2_ENST00000413936.2_Frame_Shift_Del_p.P231fs|DTX2_ENST00000446600.1_Frame_Shift_Del_p.P140fs NM_020892.2 NP_065943.2 Q86UW9 DTX2_HUMAN deltex homolog 2 (Drosophila) 231 Notch signaling pathway cytoplasm|nucleus protein binding|zinc ion binding NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2) 27 AGCACCCCCCACACAGGACCG 0.657 7 1503 --- --- --- --- PRSS3P2 0 broad.mit.edu 37 7 142482280 142482280 + RNA DEL T T - TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr7:142482280delT ENST00000603901.1 + 0 660 NR_001296.3 GCTATGGCTGTGCCCAGAAGA 0.517 9 227 --- --- --- --- DPYS 1807 broad.mit.edu 37 8 105440214 105440214 + Frame_Shift_Del DEL T T - TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr8:105440214delT ENST00000351513.2 - 6 1218 c.1086delA c.(1084-1086)aafs p.K362fs NM_001385.2 NP_001376.1 Q14117 DPYS_HUMAN dihydropyrimidinase 362 protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process cytosol dihydropyrimidinase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) CCACCACGCCTTTTTCCCATA 0.478 7 1046 --- --- --- --- CNTNAP3B 728577 broad.mit.edu 37 9 43844265 43844265 + Frame_Shift_Del DEL G G - TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr9:43844265delG ENST00000377564.3 + 10 1992 c.1599delG c.(1597-1599)gcfs p.A533fs NM_001201380.1 NP_001188309.1 Q96NU0 CNT3B_HUMAN contactin associated protein-like 3B 533 Laminin G-like 2. cell adhesion|signal transduction integral to membrane receptor binding central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3) 10 AGCAGGGGGCGCTGGGGAGTT 0.542 10 43 --- --- --- --- CEL 1056 broad.mit.edu 37 9 135941982 135941982 + Frame_Shift_Del DEL G G - TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr9:135941982delG ENST00000372080.4 + 5 629 c.613delG c.(613-615)ggfs p.G206fs CEL_ENST00000351304.7_Frame_Shift_Del_p.G203fs NM_001807.3 NP_001798.2 P19835 CEL_HUMAN carboxyl ester lipase 203 cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification cytosol|extracellular space acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1) 20 OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196) CGCGGCCTTCGGGGGGGACCC 0.642 7 825 --- --- --- --- PNLIPRP2 5408 broad.mit.edu 37 10 118396278 118396279 + RNA INS - - T rs11197776 by1000genomes TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr10:118396278_118396279insT ENST00000537242.1 + 0 962 PNLIPRP2_ENST00000298771.7_RNA|PNLIPRP2_ENST00000433618.4_RNA NM_005396.4 NP_005387.2 P54317 LIPR2_HUMAN pancreatic lipase-related protein 2 galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process extracellular space acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity endometrium(1)|large_intestine(1)|lung(11)|prostate(3) 16 all cancers(201;0.015) ACAAATTATGGTTTTTTTTTTC 0.426 7 44 --- --- --- --- FRG2B 441581 broad.mit.edu 37 10 135438960 135438960 + Frame_Shift_Del DEL C C - TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr10:135438960delC ENST00000443774.1 - 4 532 c.483delG c.(481-483)agfs p.R161fs FRG2B_ENST00000425520.1_Frame_Shift_Del_p.R160fs Q96QU4 FRG2B_HUMAN FSHD region gene 2 family, member B 160 nucleus endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1) 20 all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) GGGCCCGAGACCTATGCCGCT 0.557 10 904 --- --- --- --- NLRP6 171389 broad.mit.edu 37 11 281553 281555 + In_Frame_Del DEL GAG GAG - TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr11:281553_281555delGAG ENST00000534750.1 + 4 2024_2026 c.1819_1821delGAG c.(1819-1821)del p.E611del NLRP6_ENST00000312165.5_In_Frame_Del_p.E611del NM_001276700.1 NP_001263629.1 P59044 NALP6_HUMAN NLR family, pyrin domain containing 6 611 Poly-Glu. cytoplasm ATP binding breast(1)|skin(1)|upper_aerodigestive_tract(2) 4 all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122) CGAAGAGCCAGAGGAGGAGGAGG 0.670 11 564 --- --- --- --- KCNA4 3739 broad.mit.edu 37 11 30034029 30034031 + In_Frame_Del DEL TGG TGG - TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr11:30034029_30034031delTGG ENST00000328224.6 - 2 1428_1430 c.195_197delCCA c.(193-198)cag>ca p.HQ65del NM_002233.3 NP_002224.1 P22459 KCNA4_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 4 65 Poly-His. voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 CCCGCGTGACTGGTGGTGGTGGT 0.660 8 370 --- --- --- --- MALAT1 0 broad.mit.edu 37 11 65268212 65268213 + RNA INS - - C TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr11:65268212_65268213insC ENST00000534336.1 + 0 2980_2981 NR_002819.2 GTGTGCCAAGGCCACAGGGAAA 0.485 9 287 --- --- --- --- UVRAG 7405 broad.mit.edu 37 11 75694430 75694431 + Splice_Site INS - - A TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr11:75694430_75694431insA ENST00000356136.3 + 8 940_941 c.e8-1 UVRAG_ENST00000528420.1_Splice_Site|UVRAG_ENST00000531818.1_Splice_Site|UVRAG_ENST00000533454.1_Splice_Site|UVRAG_ENST00000532130.1_Splice_Site NM_003369.3 NP_003360.2 Q9P2Y5 UVRAG_HUMAN UV radiation resistance associated DNA repair|positive regulation of autophagy early endosome|late endosome|lysosome protein binding central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2) 32 TATTTATTTAGAAAAAAAAAAG 0.302 7 198 --- --- --- --- NOX4 50507 broad.mit.edu 37 11 89106662 89106663 + Splice_Site INS - - A rs56022003 TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr11:89106662_89106663insA ENST00000535633.1 - 12 1313 c.e12-2 NOX4_ENST00000413594.2_Splice_Site|NOX4_ENST00000263317.4_Splice_Site|NOX4_ENST00000532825.1_Splice_Site|NOX4_ENST00000424319.1_Splice_Site|NOX4_ENST00000531342.1_Splice_Site|NOX4_ENST00000528341.1_Splice_Site|NOX4_ENST00000527626.1_Splice_Site|NOX4_ENST00000343727.5_Splice_Site|NOX4_ENST00000527956.1_Splice_Site|NOX4_ENST00000542487.1_Splice_Site|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000534731.1_Splice_Site|NOX4_ENST00000375979.3_Splice_Site NM_001143836.1|NM_016931.3 NP_001137308.1|NP_058627.1 Q9NPH5 NOX4_HUMAN NADPH oxidase 4 cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity p.?(1) NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2) 44 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011) AGTTGGACACTAAAAAAAAATA 0.292 10 570 --- --- --- --- CLIP1 6249 broad.mit.edu 37 12 122812690 122812691 + Frame_Shift_Ins INS - - T TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr12:122812690_122812691insT ENST00000358808.2 - 16 3173_3174 c.3019_3020insA c.(3019-3021)ccafs p.P1007fs CLIP1_ENST00000545889.1_Frame_Shift_Ins_p.P593fs|CLIP1_ENST00000361654.4_Frame_Shift_Ins_p.P896fs|CLIP1_ENST00000537178.1_Frame_Shift_Ins_p.P972fs|CLIP1_ENST00000302528.7_Frame_Shift_Ins_p.P1007fs|CLIP1_ENST00000540338.1_Frame_Shift_Ins_p.P1018fs NM_001247997.1|NM_002956.2 NP_001234926.1|NP_002947.1 P30622 CLIP1_HUMAN CAP-GLY domain containing linker protein 1 1018 mitotic prometaphase|positive regulation of microtubule polymerization centrosome|cytosol|endosome|intermediate filament|kinetochore nucleic acid binding|protein homodimerization activity|zinc ion binding NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226) CTGGTTGTGGCTTGTTTCCATT 0.505 10 624 --- --- --- --- FAM155A 728215 broad.mit.edu 37 13 108518337 108518338 + Frame_Shift_Ins INS - - C TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr13:108518337_108518338insC ENST00000375915.2 - 1 745_746 c.607_608insG c.(607-609)cggfs p.R203fs NM_001080396.2 NP_001073865.1 B1AL88 F155A_HUMAN family with sequence similarity 155, member A 203 integral to membrane binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 CTCCTGCCCGTCCCCCCCGGCC 0.609 7 607 --- --- --- --- LRP10 26020 broad.mit.edu 37 14 23341527 23341529 + In_Frame_Del DEL CCT CCT - TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr14:23341527_23341529delCCT ENST00000359591.4 + 1 706_708 c.15_17delCCT c.(13-18)acc>ac p.TL5del LRP10_ENST00000546834.1_In_Frame_Del_p.TL5del NM_014045.3 NP_054764.2 Q7Z4F1 LRP10_HUMAN low density lipoprotein receptor-related protein 10 5 endocytosis coated pit|integral to membrane central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2) 32 all_cancers(95;4.69e-05) GBM - Glioblastoma multiforme(265;0.00549) TGTTGGCCACCCTCCTCCTCCTC 0.670 9 458 --- --- --- --- HOMEZ 57594 broad.mit.edu 37 14 23745310 23745310 + Frame_Shift_Del DEL A A - TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr14:23745310delA ENST00000357460.5 - 2 1291 c.1127delT c.(1126-1128)tafs p.L376fs HOMEZ_ENST00000431326.2_Frame_Shift_Del_p.L378fs|HOMEZ_ENST00000561013.1_Frame_Shift_Del_p.L378fs NM_020834.2 NP_065885.2 Q8IX15 HOMEZ_HUMAN homeobox and leucine zipper encoding 376 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.L376fs*14(1) endometrium(5)|lung(7) 12 all_cancers(95;5.54e-06) GBM - Glioblastoma multiforme(265;0.00643) CTGGCACTGTAAAAAAAAGGA 0.488 7 244 --- --- --- --- IRF9 10379 broad.mit.edu 37 14 24633132 24633134 + In_Frame_Del DEL AGC AGC - TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr14:24633132_24633134delAGC ENST00000396864.3 + 5 828_830 c.541_543delAGC c.(541-543)del p.S187del IRF9_ENST00000557894.1_In_Frame_Del_p.S85del|RP11-468E2.4_ENST00000558468.1_3'UTR NM_006084.4 NP_006075.3 Q00978 IRF9_HUMAN interferon regulatory factor 9 187 Poly-Ser. interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytosol|nucleoplasm DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2) 16 GBM - Glioblastoma multiforme(265;0.00853) AGACATTGGGagcagcagcagca 0.567 13 322 --- --- --- --- MIS18BP1 55320 broad.mit.edu 37 14 45693722 45693722 + Frame_Shift_Del DEL T T - TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr14:45693722delT ENST00000310806.4 - 11 2526 c.2068delA c.(2068-2070)gtfs p.S690fs NM_018353.4 NP_060823.3 Q6P0N0 M18BP_HUMAN MIS18 binding protein 1 690 cell division|CenH3-containing nucleosome assembly at centromere|mitosis chromosome, centromeric region|nucleoplasm DNA binding NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 39 CTGATGGGACTTTTTTTTTGA 0.373 7 452 --- --- --- --- SIPA1L1 26037 broad.mit.edu 37 14 72190482 72190484 + In_Frame_Del DEL TCC TCC - TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr14:72190482_72190484delTCC ENST00000555818.1 + 16 4738_4740 c.4390_4392delTCC c.(4390-4392)del p.S1468del SIPA1L1_ENST00000358550.2_In_Frame_Del_p.S1447del|SIPA1L1_ENST00000381232.3_In_Frame_Del_p.S1447del|SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000537413.1_In_Frame_Del_p.S922del NM_015556.1 NP_056371.1 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 1 1468 Ser-rich. actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1) 78 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) ctcctcctcttcctcctcctcct 0.552 7 668 --- --- --- --- SNHG14 0 broad.mit.edu 37 15 25337049 25337050 + RNA DEL GA GA - TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr15:25337049_25337050delGA ENST00000546682.1 + 0 969 SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000553108.1_RNA NR_003361.1 ACTGGAGCTGGAGAGAGAGAGA 0.500 7 540 --- --- --- --- ARID3B 10620 broad.mit.edu 37 15 74888025 74888027 + In_Frame_Del DEL CAG CAG - rs141710149 TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr15:74888025_74888027delCAG ENST00000346246.5 + 9 1824_1826 c.1593_1595delCAG c.(1591-1596)gcc>gc p.AS531del NM_006465.2 NP_006456.1 Q8IVW6 ARI3B_HUMAN AT rich interactive domain 3B (BRIGHT-like) 532 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2) 14 gcagcagcgccagcagcagcagc 0.640 9 176 --- --- --- --- CHRNA3 0 broad.mit.edu 37 15 78913068 78913070 + In_Frame_Del DEL CAG CAG - rs72025661 TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr15:78913068_78913070delCAG ENST00000326828.5 - 1 451_453 c.67_69delCTG c.(67-69)del p.L23del CHRNA3_ENST00000348639.3_In_Frame_Del_p.L23del NM_000743.4 NP_000734.2 P32297 ACHA3_HUMAN cholinergic receptor, nicotinic, alpha 3 (neuronal) 23 Missing. activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 gcagcagagacagcagcagcagc 0.768 4 8 --- --- --- --- RNF40 9810 broad.mit.edu 37 16 30773901 30773902 + Frame_Shift_Ins INS - - C TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr16:30773901_30773902insC ENST00000324685.6 + 2 470_471 c.35_36insC c.(34-36)gggfs p.G12fs RNF40_ENST00000402121.3_Frame_Shift_Ins_p.G12fs|RNF40_ENST00000563683.1_Frame_Shift_Ins_p.G12fs|RNF40_ENST00000357890.5_Frame_Shift_Ins_p.G12fs|C16orf93_ENST00000543610.1_5'UTR NM_001207033.1|NM_014771.3 NP_001193962.1|NP_055586.1 O75150 BRE1B_HUMAN ring finger protein 40, E3 ubiquitin protein ligase 12 histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process nucleus|synaptosome|ubiquitin ligase complex protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2) 30 Colorectal(24;0.198) GCCGCCGGCGACGGGGGCTCAG 0.653 7 88 --- --- --- --- IRX6 79190 broad.mit.edu 37 16 55362674 55362676 + In_Frame_Del DEL GAG GAG - TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr16:55362674_55362676delGAG ENST00000290552.7 + 5 2116_2118 c.784_786delGAG c.(784-786)del p.E268del RP11-26L20.3_ENST00000558730.2_RNA NM_024335.2 NP_077311.2 P78412 IRX6_HUMAN iroquois homeobox 6 268 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 33 CCTggaggaagaggaggaggagg 0.626 7 340 --- --- --- --- NOB1 28987 broad.mit.edu 37 16 69782978 69782980 + In_Frame_Del DEL TCC TCC - TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr16:69782978_69782980delTCC ENST00000268802.5 - 6 596_598 c.567_569delGGA c.(565-570)gaa>ga p.EE189del NM_014062.1 NP_054781.1 Q9ULX3 NOB1_HUMAN NIN1/RPN12 binding protein 1 homolog (S. cerevisiae) 189 Poly-Glu. nucleus metal ion binding|protein binding breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 CCCGTTTTCTTCCTCCTCCTCCT 0.522 9 388 --- --- --- --- C16orf46 123775 broad.mit.edu 37 16 81095470 81095470 + Frame_Shift_Del DEL T T - TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr16:81095470delT ENST00000378611.4 - 3 599 c.484delA c.(484-486)gtfs p.S162fs RP11-303E16.8_ENST00000564536.1_RNA|C16orf46_ENST00000444657.3_5'UTR|C16orf46_ENST00000299578.5_Frame_Shift_Del_p.S162fs NM_001100873.1 NP_001094343.1 Q6P387 CP046_HUMAN chromosome 16 open reading frame 46 162 NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1) 18 ATTTGCAGACTTTTTTTCTCT 0.572 7 1420 --- --- --- --- EPN2 22905 broad.mit.edu 37 17 19232950 19232950 + Frame_Shift_Del DEL A A - TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr17:19232950delA ENST00000314728.5 + 9 1885 c.1401delA c.(1399-1401)tcfs p.S467fs EPN2_ENST00000575595.1_Frame_Shift_Del_p.S175fs|EPN2_ENST00000347697.2_Frame_Shift_Del_p.S410fs|EPN2_ENST00000395626.1_Frame_Shift_Del_p.S467fs|EPN2_ENST00000395618.3_Frame_Shift_Del_p.S182fs|EPN2_ENST00000395620.2_Frame_Shift_Del_p.S410fs|EPN2_ENST00000571254.1_Frame_Shift_Del_p.S403fs NM_014964.4 NP_055779.2 O95208 EPN2_HUMAN epsin 2 467 6 X 3 AA repeats of [DE]-P-W. endocytosis lipid binding p.T470fs*19(1) breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1) 19 all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143) TTCGGACTTCAAAAAAAACAG 0.393 7 509 --- --- --- --- GIT1 28964 broad.mit.edu 37 17 27903281 27903281 + Frame_Shift_Del DEL G G - TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr17:27903281delG ENST00000225394.3 - 14 1816 c.1568delC c.(1567-1569)ctfs p.P523fs GIT1_ENST00000579937.1_Frame_Shift_Del_p.P523fs|GIT1_ENST00000394869.3_Frame_Shift_Del_p.P532fs|GIT1_ENST00000581348.1_Frame_Shift_Del_p.P532fs|RP11-68I3.2_ENST00000581474.1_RNA NM_014030.3 NP_054749.2 Q9Y2X7 GIT1_HUMAN G protein-coupled receptor kinase interacting ArfGAP 1 523 regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|focal adhesion ARF GTPase activator activity|protein binding|zinc ion binding large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069) CTCGTCCCCAGGGGGGCCCCC 0.652 7 766 --- --- --- --- KRT10 3858 broad.mit.edu 37 17 38978766 38978768 + In_Frame_Del DEL TCC TCC - TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr17:38978766_38978768delTCC ENST00000269576.5 - 1 79_81 c.70_72delGGA c.(70-72)del p.G24del TMEM99_ENST00000496847.1_Intron|TMEM99_ENST00000301665.3_Intron NM_000421.3 NP_000412.3 P13645 K1C10_HUMAN keratin 10 24 Gly-rich.|Head. Missing (in Ref. 1; AAA60544). epidermis development protein binding|structural constituent of epidermis NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1) 11 Breast(137;0.000301) ctcctccacatcctcctcctcct 0.547 13 123 --- --- --- --- OTOP2 92736 broad.mit.edu 37 17 72926595 72926595 + Frame_Shift_Del DEL T T - TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr17:72926595delT ENST00000331427.4 + 6 957 c.865delT c.(865-867)ttfs p.F290fs OTOP2_ENST00000580223.1_Frame_Shift_Del_p.F290fs NM_178160.2 NP_835454.1 Q7RTS6 OTOP2_HUMAN otopetrin 2 290 integral to membrane breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2) 39 all_lung(278;0.172)|Lung NSC(278;0.207) CCGGGAGACCTTTTTTGCTGG 0.607 8 605 --- --- --- --- RP11-353N14.5 0 broad.mit.edu 37 17 77889491 77889492 + RNA INS - - AGG rs148432167 by1000genomes TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr17:77889491_77889492insAGG ENST00000576738.1 - 0 5109 cagagggacgcaggaggaggag 0.649 6 8 --- --- --- --- LMAN1 3998 broad.mit.edu 37 18 57013193 57013194 + Frame_Shift_Ins INS - - T TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr18:57013193_57013194insT ENST00000251047.5 - 8 1629_1630 c.912_913insA c.(910-915)aaaggafs p.G305fs NM_005570.3 NP_005561.1 P49257 LMAN1_HUMAN lectin, mannose-binding, 1 305 blood coagulation|ER to Golgi vesicle-mediated transport|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein transport endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane mannose binding|metal ion binding|unfolded protein binding breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 16 Colorectal(73;0.0946) Antihemophilic Factor(DB00025) TGGAATTCCTCTTTTTTTTTAT 0.455 7 410 --- --- --- --- MBD3 53615 broad.mit.edu 37 19 1578372 1578374 + In_Frame_Del DEL CTC CTC - TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr19:1578372_1578374delCTC ENST00000590550.2 - 5 1046_1048 c.673_675delGAG c.(673-675)del p.E225del MBD3_ENST00000434436.3_In_Frame_Del_p.E281del|MBD3_ENST00000156825.1_In_Frame_Del_p.E281del|MBD3_ENST00000592012.1_In_Frame_Del_p.E249del O95983 MBD3_HUMAN methyl-CpG binding domain protein 3 281 transcription, DNA-dependent NuRD complex DNA binding|protein binding central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 8 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18) CCGGGTCGGGctcctcctcctcc 0.714 7 136 --- --- --- --- HAUS8 93323 broad.mit.edu 37 19 17160706 17160707 + Frame_Shift_Del DEL GA GA - TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr19:17160706_17160707delGA ENST00000593360.1 - 10 3044_3045 c.1026_1027delTC c.(1024-1029)tcgtfs p.SR342fs HAUS8_ENST00000448593.2_Frame_Shift_Del_p.SR402fs|HAUS8_ENST00000253669.5_Frame_Shift_Del_p.SR403fs Q9BT25 HAUS8_HUMAN HAUS augmin-like complex, subunit 8 403 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|spindle pole endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1) 12 CTCCCTGAACGAGAGAGAGAGG 0.495 8 1050 --- --- --- --- C19orf55 148137 broad.mit.edu 37 19 36255947 36255949 + In_Frame_Del DEL CTC CTC - TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr19:36255947_36255949delCTC ENST00000544099.1 + 7 702_704 c.639_641delCTC c.(637-642)atc>at p.IS213del C19orf55_ENST00000396908.4_In_Frame_Del_p.IS213del Q2NL68 CS055_HUMAN chromosome 19 open reading frame 55 213 Ser-rich. cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1) 15 all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) AAGCCTCCATCTCCTCCTCCTCC 0.631 9 1227 --- --- --- --- LYPD3 27076 broad.mit.edu 37 19 43969653 43969655 + In_Frame_Del DEL AGC AGC - rs141441894 byFrequency TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr19:43969653_43969655delAGC ENST00000244333.3 - 1 157_159 c.69_71delGCT c.(67-72)ctt>ct p.LL23del NM_014400.2 NP_055215.2 O95274 LYPD3_HUMAN LY6/PLAUR domain containing 3 23 anchored to plasma membrane cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2) 11 Prostate(69;0.0153) ACCTCCGCGAAGCAGCAGCAGCA 0.675 7 706 --- --- --- --- FLT3LG 0 broad.mit.edu 37 19 49978960 49978962 + In_Frame_Del DEL CTG CTG - TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr19:49978960_49978962delCTG ENST00000594009.1 + 2 125_127 c.46_48delCTG c.(46-48)del p.L20del FLT3LG_ENST00000204637.2_5'UTR|CTD-3148I10.9_ENST00000599536.1_Intron|FLT3LG_ENST00000344019.3_In_Frame_Del_p.L20del|FLT3LG_ENST00000595815.1_3'UTR|FLT3LG_ENST00000600429.1_In_Frame_Del_p.L20del|FLT3LG_ENST00000597551.1_In_Frame_Del_p.L20del|FLT3LG_ENST00000596435.1_In_Frame_Del_p.L20del|FLT3LG_ENST00000595510.1_5'UTR NM_001204503.1 NP_001191432.1 P49771 FLT3L_HUMAN fms-related tyrosine kinase 3 ligand 20 positive regulation of cell proliferation|signal transduction extracellular space|integral to membrane|plasma membrane|soluble fraction cytokine activity large_intestine(2)|lung(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 10 all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246) CTATCTCCTCCTGCTGCTGCTGC 0.621 9 354 --- --- --- --- ZNF552 79818 broad.mit.edu 37 19 58319468 58319468 + Frame_Shift_Del DEL T T - TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr19:58319468delT ENST00000391701.1 - 3 1333 c.1164delA c.(1162-1164)aafs p.K388fs ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000598885.1_Intron NM_024762.3 NP_079038.2 Q9H707 ZN552_HUMAN zinc finger protein 552 388 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 11 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259) TTTGCCTAAATTTTTTTTCAC 0.413 8 524 --- --- --- --- MGME1 92667 broad.mit.edu 37 20 17956442 17956442 + Frame_Shift_Del DEL C C - TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr20:17956442delC ENST00000377710.5 + 3 915 c.627delC c.(625-627)gtfs p.V209fs MGME1_ENST00000377709.1_Frame_Shift_Del_p.V129fs|MGME1_ENST00000467391.1_Intron|MGME1_ENST00000377704.4_Intron NM_052865.2 NP_443097.1 mitochondrial genome maintenance exonuclease 1 TTGAAAGTGTCCAGCATATTC 0.438 23 337 --- --- --- --- CST1 1469 broad.mit.edu 37 20 23729740 23729742 + In_Frame_Del DEL GAA GAA - TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr20:23729740_23729742delGAA ENST00000304749.2 - 2 323_325 c.253_255delTTC c.(253-255)del p.F85del CST1_ENST00000398402.1_In_Frame_Del_p.F85del NM_001898.2 NP_001889.2 P01037 CYTN_HUMAN cystatin SN 85 extracellular region cysteine-type endopeptidase inhibitor activity kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1) 13 Lung NSC(19;0.0676)|all_lung(19;0.148) CCTCTACGTCGAAGAAGTAATTC 0.547 32 782 --- --- --- --- CTCFL 140690 broad.mit.edu 37 20 56099187 56099187 + Frame_Shift_Del DEL T T - TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr20:56099187delT ENST00000426658.2 - 1 736 c.75delA c.(73-75)aafs p.K25fs CTCFL_ENST00000371196.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000429804.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000422109.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000433949.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000432255.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000422869.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000243914.3_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000423479.2_Frame_Shift_Del_p.K25fs Q8NI51 CTCFL_HUMAN CCCTC-binding factor (zinc finger protein)-like 25 cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent cytoplasm|nucleus histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07) CCTTCAGGCCTTTTTCCGGCA 0.502 8 1586 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11085863 11085864 + RNA INS - - C TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr21:11085863_11085864insC ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) catcaccaccaccaccatcacc 0.579 8 30 --- --- --- --- CBR3-AS1 0 broad.mit.edu 37 21 37518894 37518894 + RNA DEL T T - TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr21:37518894delT ENST00000413862.1 - 0 79 CBR3-AS1_ENST00000453159.1_RNA|CBR3-AS1_ENST00000427491.1_RNA NR_038892.1 atttctgttcttttttttttt 0.448 7 53 --- --- --- --- HIRA 7290 broad.mit.edu 37 22 19373136 19373138 + In_Frame_Del DEL GCT GCT - TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr22:19373136_19373138delGCT ENST00000263208.5 - 12 1491_1493 c.1235_1237delAGC c.(1234-1239)ctg>c p.QL412del HIRA_ENST00000541063.1_In_Frame_Del_p.QL368del|HIRA_ENST00000340170.4_In_Frame_Del_p.QL412del|HIRA_ENST00000546308.1_In_Frame_Del_p.QL368del NM_003325.3 NP_003316.3 P54198 HIRA_HUMAN histone cell cycle regulator 412 Poly-Gln. chromatin modification|regulation of transcription from RNA polymerase II promoter PML body chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1) 37 Colorectal(54;0.0993) TTCTGGTCCAGCTGCTGCTGCTG 0.581 7 304 --- --- --- --- MYH9 4627 broad.mit.edu 37 22 36689419 36689421 + In_Frame_Del DEL CCT CCT - TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr22:36689419_36689421delCCT ENST00000216181.5 - 30 4279_4281 c.4049_4051delAGG c.(4048-4053)gcc>g p.EA1350del NM_002473.4 NP_002464.1 P35579 MYH9_HUMAN myosin, heavy chain 9, non-muscle 1350 E -> EE (in Ref. 7). actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3) 86 TTGTGCTTGGCCTCCTCCTCCTC 0.650 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated 12 379 --- --- --- --- PICK1 9463 broad.mit.edu 37 22 38471034 38471036 + In_Frame_Del DEL GGA GGA - TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr22:38471034_38471036delGGA ENST00000404072.3 + 13 1490_1492 c.1143_1145delGGA c.(1141-1146)ggg>gg p.GE381del PICK1_ENST00000356976.3_In_Frame_Del_p.GE381del NM_001039583.1|NM_001039584.1 NP_001034672.1|NP_001034673.1 Q9NRD5 PICK1_HUMAN protein interacting with PRKCA 1 381 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|DNA methylation involved in embryo development|DNA methylation involved in gamete generation|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission cell junction|endocytic vesicle membrane|Golgi apparatus|perinuclear region of cytoplasm|presynaptic membrane ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 13 Melanoma(58;0.045) TCACAGATGGggaggaggaggag 0.635 10 170 --- --- --- --- RANGAP1 5905 broad.mit.edu 37 22 41650469 41650471 + In_Frame_Del DEL TCC TCC - TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr22:41650469_41650471delTCC ENST00000455915.2 - 10 2570_2572 c.1101_1103delGGA c.(1099-1104)gaa>ga p.EE367del RANGAP1_ENST00000405486.1_In_Frame_Del_p.EE367del|RANGAP1_ENST00000356244.3_In_Frame_Del_p.EE367del|RANGAP1_ENST00000407260.4_In_Frame_Del_p.EE312del P46060 RAGP1_HUMAN Ran GTPase activating protein 1 367 Asp/Glu-rich (highly acidic). mitotic prometaphase|signal transduction condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole protein binding|Ran GTPase activator activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 ctcttctccttcctcctcctcct 0.562 15 470 --- --- --- --- TCF20 6942 broad.mit.edu 37 22 42610776 42610778 + In_Frame_Del DEL TGC TGC - TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chr22:42610776_42610778delTGC ENST00000359486.3 - 1 670_672 c.534_536delGCA c.(532-537)caa>ca p.QQ178del TCF20_ENST00000335626.4_In_Frame_Del_p.QQ178del NM_005650.1 NP_005641.1 Q9UGU0 TCF20_HUMAN transcription factor 20 (AR1) 178 Poly-Gln. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5) 66 CTGCTGGACTTGCTGCTGCTGCT 0.571 9 341 --- --- --- --- MAMLD1 10046 broad.mit.edu 37 X 149639325 149639327 + In_Frame_Del DEL CAG CAG - TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chrX:149639325_149639327delCAG ENST00000370401.2 + 4 1790_1792 c.1480_1482delCAG c.(1480-1482)del p.Q502del MAMLD1_ENST00000426613.2_In_Frame_Del_p.Q477del|MAMLD1_ENST00000432680.2_In_Frame_Del_p.Q477del|MAMLD1_ENST00000455522.2_5'UTR|MAMLD1_ENST00000262858.5_In_Frame_Del_p.Q502del Q13495 MAMD1_HUMAN mastermind-like domain containing 1 502 Poly-Gln. male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus p.Q469Q(1)|p.Q494Q(1)|p.Q421Q(1) breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2) 37 Acute lymphoblastic leukemia(192;6.56e-05) AAGCcagcaacagcagcagcagc 0.532 10 285 --- --- --- --- CD99L2 83692 broad.mit.edu 37 X 149984524 149984526 + In_Frame_Del DEL GTG GTG - TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d714bbc-0aa2-41ac-aeff-74a4ffa9be91 db2c1772-19af-4709-afbe-8bf2c3f92b88 g.chrX:149984524_149984526delGTG ENST00000370377.3 - 3 273_275 c.156_158delCAC c.(154-159)aca>ac p.TT52del CD99L2_ENST00000355149.3_Intron|CD99L2_ENST00000466436.1_Intron|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000437787.2_In_Frame_Del_p.TT52del NM_001242614.1|NM_031462.3 NP_001229543.1|NP_113650.2 Q8TCZ2 C99L2_HUMAN CD99 molecule-like 2 52 Poly-Thr. cell adhesion cell junction|integral to membrane endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) CCTATTGGTTGTGGTGGTGGTGG 0.552 8 1047 --- --- --- ---