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 ZAP70 7535 broad.mit.edu 37 2 98351892 98351892 + Missense_Mutation SNP C C T TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chr2:98351892C>T ENST00000264972.5 + 10 1477 c.1262C>T c.(1261-1263)cCg>cTg p.P421L ZAP70_ENST00000442208.1_Missense_Mutation_p.P295L|ZAP70_ENST00000451498.2_Missense_Mutation_p.P114L|ZAP70_ENST00000463643.1_3'UTR NM_001079.3 NP_001070.2 P43403 ZAP70_HUMAN zeta-chain (TCR) associated protein kinase 70kDa 421 Protein kinase. immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway cytosol|T cell receptor complex ATP binding|non-membrane spanning protein tyrosine kinase activity p.P421Q(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 29 GGGGGCGGGCCGCTGCACAAG 0.682000 5 206 0 0 0.217242 0 0 AJ271736.10 0 broad.mit.edu 37 X 155254749 155254749 + RNA SNP G G A TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chrX:155254749G>A ENST00000285718.7 + 0 1194 WASH6P_ENST00000461007.1_RNA TCAACAAGCTGGTCATGAGGC 0.572000 4 17 0 0 0.248553 0 0 BTN2A3P 0 broad.mit.edu 37 6 26422353 26422353 + RNA SNP C C T rs141013110 TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chr6:26422353C>T ENST00000466808.2 + 0 7 p.P3S(2) GCTCATGGAACCAGCTGCTGC 0.622000 5 258 0 0 0.217242 0 0 EIF2AK3 9451 broad.mit.edu 37 2 88913315 88913315 + Missense_Mutation SNP T T C TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chr2:88913315T>C ENST00000303236.3 - 2 666 c.365A>G c.(364-366)aAt>aGt p.N122S EIF2AK3_ENST00000419748.1_5'UTR NM_004836.5 NP_004827.4 Q9NZJ5 E2AK3_HUMAN eukaryotic translation initiation factor 2-alpha kinase 3 122 activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization endoplasmic reticulum membrane|integral to membrane ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding ovary(3) 3 TTTACCATGATTTTCAGGATC 0.358000 94 128 0 0 0.870114 0 0 ZFP37 7539 broad.mit.edu 37 9 115805120 115805120 + Missense_Mutation SNP C C A TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chr9:115805120C>A ENST00000374227.3 - 4 1805 c.1778G>T c.(1777-1779)cGa>cTa p.R593L ZFP37_ENST00000555206.1_Missense_Mutation_p.R594L|ZFP37_ENST00000553380.1_Missense_Mutation_p.R608L Q9Y6Q3 ZFP37_HUMAN ZFP37 zinc finger protein 593 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 38 AGTGTGGGATCGCTGATGTAT 0.368000 4 150 0.150653 0.154467 0.150653 1 0 CATSPERG 57828 broad.mit.edu 37 19 38852407 38852407 + Missense_Mutation SNP T T G TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chr19:38852407T>G ENST00000409235.3 + 17 2115 c.2000T>G c.(1999-2001)gTc>gGc p.V667G CATSPERG_ENST00000215069.4_3'UTR|CATSPERG_ENST00000410018.1_Missense_Mutation_p.V627G NM_021185.4 NP_067008.3 Q6ZRH7 CTSRG_HUMAN catsper channel auxiliary subunit gamma 667 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2) 40 CCGCCGCGCGTCCTGGAGCGC 0.667000 5 24 0 0 0.184627 0 0 PC 5091 broad.mit.edu 37 11 66616483 66616483 + Missense_Mutation SNP C C A TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chr11:66616483C>A ENST00000393960.1 - 23 3705 c.3424G>T c.(3424-3426)Gcc>Tcc p.A1142S PC_ENST00000528224.1_5'UTR|PC_ENST00000529047.1_Missense_Mutation_p.A262S|PC_ENST00000393958.2_Missense_Mutation_p.A1142S|PC_ENST00000393955.2_Missense_Mutation_p.A1142S NM_001040716.1 NP_001035806.1 P11498 PYC_HUMAN pyruvate carboxylase 1142 Biotinyl-binding. gluconeogenesis|lipid biosynthetic process mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Melanoma(852;0.0525) Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227) Biotin(DB00121)|Pyruvic acid(DB00119) ATCTTCATGGCACTGAGCACA 0.592000 5 211 0.014758 0.0153256 0.184627 1 0 DSE 29940 broad.mit.edu 37 6 116757925 116757925 + Missense_Mutation SNP G G A TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chr6:116757925G>A ENST00000331677.3 + 7 2738 c.2294G>A c.(2293-2295)cGg>cAg p.R765Q DSE_ENST00000537543.1_Missense_Mutation_p.R784Q|DSE_ENST00000359564.2_Missense_Mutation_p.R765Q|DSE_ENST00000452085.3_Missense_Mutation_p.R765Q Q9UL01 DSE_HUMAN dermatan sulfate epimerase 765 dermatan sulfate biosynthetic process endoplasmic reticulum|Golgi apparatus|integral to membrane chondroitin-glucuronate 5-epimerase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234) Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262) TCCCGAGTCCGGAACACAGCT 0.478000 7 173 0 0 0.307466 0 0 ABCC5 10057 broad.mit.edu 37 3 183667864 183667864 + Silent SNP G G A TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chr3:183667864G>A ENST00000334444.6 - 21 3234 c.2994C>T c.(2992-2994)atC>atT p.I998I ABCC5_ENST00000265586.6_Silent_p.I998I NM_005688.2 NP_005679.2 O15440 MRP5_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 5 998 ABC transmembrane type-1 2. integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_cancers(143;1.85e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) AGAACACCAGGATAACGTTCT 0.507000 22 51 0 0 0.654019 0 0 CLDN2 9075 broad.mit.edu 37 X 106171821 106171821 + Silent SNP T T G TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chrX:106171821T>G ENST00000541806.1 + 2 882 c.363T>G c.(361-363)ggT>ggG p.G121G CLDN2_ENST00000540876.1_Silent_p.G121G|CLDN2_ENST00000336803.1_Silent_p.G121G NM_001171092.1 NP_001164563.1 P57739 CLD2_HUMAN claudin 2 121 calcium-independent cell-cell adhesion integral to membrane|tight junction identical protein binding|structural molecule activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1) 9 CGGTAGCAGGTGGAGTCTTTT 0.542000 4 72 0 0 0.624587 0 0 SPINK4 27290 broad.mit.edu 37 9 33246623 33246623 + Missense_Mutation SNP G G A TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chr9:33246623G>A ENST00000379725.1 + 4 303 c.181G>A c.(181-183)Gaa>Aaa p.E61K SPINK4_ENST00000379723.1_Missense_Mutation_p.E61K|SPINK4_ENST00000379721.3_Missense_Mutation_p.E38K O60575 ISK4_HUMAN serine peptidase inhibitor, Kazal type 4 38 Kazal-like. extracellular region serine-type endopeptidase inhibitor activity lung(1) 1 LUSC - Lung squamous cell carcinoma(29;0.00506) GCCCATCTGTGAACACATGGT 0.577000 6 139 0 0 0.248553 0 0 TTN 7273 broad.mit.edu 37 2 179592350 179592350 + Missense_Mutation SNP A A G TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chr2:179592350A>G ENST00000589042.1 - 68 20179 c.19955T>C c.(19954-19956)gTt>gCt p.V6652A TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.V5408A|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V6335A|TTN_ENST00000460472.2_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 6335 Ig-like 48. 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) GTCGCTACCAACATCATTGGT 0.408000 180 296 0 0 0.870114 0 0 SOX13 9580 broad.mit.edu 37 1 204082093 204082093 + Missense_Mutation SNP G G A TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chr1:204082093G>A ENST00000367204.1 + 2 159 c.50G>A c.(49-51)gGc>gAc p.G17D SOX13_ENST00000367203.4_3'UTR NM_005686.2 NP_005677.2 Q9UN79 SOX13_HUMAN SRY (sex determining region Y)-box 13 17 anatomical structure morphogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2) 13 all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109) GATGGCGTTGGCACCATGGTG 0.612000 4 88 0 0 0.150653 0 0 ZNF709 163051 broad.mit.edu 37 19 12575498 12575498 + Missense_Mutation SNP G G A TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chr19:12575498G>A ENST00000397732.3 - 4 1409 c.1238C>T c.(1237-1239)aCt>aTt p.T413I ZNF709_ENST00000428311.1_Missense_Mutation_p.T413I|CTD-3105H18.18_ENST00000598753.1_Intron NM_152601.3 NP_689814.1 Q8N972 ZN709_HUMAN zinc finger protein 709 413 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.T413I(2) large_intestine(3)|upper_aerodigestive_tract(3) 6 TCCAGTGTGAGTTCTTTCATG 0.418000 5 232 0 0 0.217242 0 0 PROP1 5626 broad.mit.edu 37 5 177419761 177419761 + Silent SNP T T G TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chr5:177419761T>G ENST00000308304.2 - 3 938 c.630A>C c.(628-630)ccA>ccC p.P210P NM_006261.4 NP_006252.3 O75360 PROP1_HUMAN PROP paired-like homeobox 1 210 central nervous system development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(2)|lung(9)|stomach(1) 13 all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TGGGAGGGGGTGGGGGGCAGG 0.637000 5 15 0 0 0.479597 0 0 ADCY3 109 broad.mit.edu 37 2 25046161 25046161 + Missense_Mutation SNP C C T TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chr2:25046161C>T ENST00000260600.5 - 17 3651 c.2800G>A c.(2800-2802)Gac>Aac p.D934N ADCY3_ENST00000405392.1_Missense_Mutation_p.D521N NM_004036.3 NP_004027.2 O60266 ADCY3_HUMAN adenylate cyclase 3 934 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to plasma membrane ATP binding|calmodulin binding|metal ion binding NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2) 44 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203) GTGTAGAAGTCAGCAAAGTTG 0.473000 4 103 0 0 0.150653 0 0 TSSC2 0 broad.mit.edu 37 11 3427845 3427845 + RNA SNP C C T TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chr11:3427845C>T ENST00000529482.1 + 0 962 CTTCAAGTGGCAGGAGCAGAA 0.587000 4 101 0 0 0.150653 0 0 IFT140 9742 broad.mit.edu 37 16 1576790 1576790 + Missense_Mutation SNP C C A TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chr16:1576790C>A ENST00000426508.2 - 20 2770 c.2407G>T c.(2407-2409)Gtc>Ttc p.V803F IFT140_ENST00000361339.5_5'UTR NM_014714.3 NP_055529.2 Q96RY7 IF140_HUMAN intraflagellar transport 140 homolog (Chlamydomonas) 803 breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1) 53 Hepatocellular(780;0.219) TTCTCCCAGACGGCCTCACTG 0.692000 3 46 0.000602214 0.000641834 0.184627 1 0 HLA-DRB6 0 broad.mit.edu 37 6 32521666 32521666 + RNA SNP T T C rs117454723 by1000genomes TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chr6:32521666T>C ENST00000411500.1 - 0 817 NR_001298.1 AACAGCCCTGTCCCAAGGAAG 0.507000 3 49 0 0 0.150653 0 0 PI4KB 5298 broad.mit.edu 37 1 151278805 151278805 + Missense_Mutation SNP C C A TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chr1:151278805C>A ENST00000368875.2 - 6 1833 c.1253G>T c.(1252-1254)tGt>tTt p.C418F PI4KB_ENST00000368872.1_Missense_Mutation_p.C391F|PI4KB_ENST00000529142.1_Missense_Mutation_p.C74F|PI4KB_ENST00000271657.5_Missense_Mutation_p.C418F|PI4KB_ENST00000368873.1_Missense_Mutation_p.C406F|PI4KB_ENST00000368874.4_Missense_Mutation_p.C391F NM_002651.2 NP_002642.1 Q9UBF8 PI4KB_HUMAN phosphatidylinositol 4-kinase, catalytic, beta 406 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 27 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) AAAGTTTTCACATTCAAGGAC 0.493000 4 93 0.00024832 0.000268186 0.150653 1 0 DNAH17 8632 broad.mit.edu 37 17 76563191 76563191 + Missense_Mutation SNP C C T TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chr17:76563191C>T ENST00000389840.5 - 10 1466 c.1342G>A c.(1342-1344)Gtg>Atg p.V448M DNAH17_ENST00000585328.1_Missense_Mutation_p.V448M dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) TTCCCACGCACGCCCCCAAGC 0.488000 15 13 0 0 0.479597 0 0 PRKCQ 5588 broad.mit.edu 37 10 6498712 6498712 + Missense_Mutation SNP C C A TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chr10:6498712C>A ENST00000263125.5 - 15 1670 c.1571G>T c.(1570-1572)gGa>gTa p.G524V PRKCQ_ENST00000539722.1_Missense_Mutation_p.G399V|PRKCQ_ENST00000397176.2_Missense_Mutation_p.G524V NM_006257.3 NP_006248.1 Q04759 KPCT_HUMAN protein kinase C, theta 524 Protein kinase. axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway cytosol ATP binding|metal ion binding|protein binding|protein kinase C activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2) 45 CTTGCACATTCCAAAATCCGC 0.443000 34 59 4.65686e-17 5.38866e-17 0.788014 1 0 PTPRG 5793 broad.mit.edu 37 3 62142813 62142813 + Missense_Mutation SNP A A G TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chr3:62142813A>G ENST00000474889.1 + 7 1132 c.755A>G c.(754-756)tAc>tGc p.Y252C PTPRG_ENST00000295874.10_Missense_Mutation_p.Y252C NM_002841.3 NP_002832.3 P23470 PTPRG_HUMAN protein tyrosine phosphatase, receptor type, G 252 Alpha-carbonic anhydrase. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane identical protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065) TATTATCGGTACACAGGTTCC 0.512000 7 162 0 0 0.248553 0 0 GGNBP2 79893 broad.mit.edu 37 17 34912923 34912923 + Splice_Site SNP C C T TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chr17:34912923C>T ENST00000304718.4 + 4 491 c.174_splice c.e4-1 p.R59_splice NM_024835.3 NP_079111.1 Q9H3C7 GGNB2_HUMAN gametogenetin binding protein 2 59 cell differentiation|multicellular organismal development|spermatogenesis cytoplasmic membrane-bounded vesicle breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1) 38 Breast(25;0.00957)|Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0193) CCTCTTTCAGCGACATGGTAT 0.423000 6 179 0 0 0.217242 0 0 SLC4A1 6521 broad.mit.edu 37 17 42340029 42340029 + Silent SNP G G A rs56387601 TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chr17:42340029G>A ENST00000262418.6 - 3 236 c.81C>T c.(79-81)ccC>ccT p.P27P AC003043.1_ENST00000597382.1_Intron NM_000342.3 NP_000333.1 P02730 B3AT_HUMAN solute carrier family 4 (anion exchanger), member 1 27 P -> H (in dbSNP:rs55777403). bicarbonate transport|cellular ion homeostasis basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 40 Breast(137;0.014)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.115) TCTGGGACTCGGGGATGTCTG 0.597000 11 27 0 0 0.387290 0 0 RECQL4 9401 broad.mit.edu 37 8 145741718 145741718 + Missense_Mutation SNP C C T TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chr8:145741718C>T ENST00000428558.2 - 5 826 c.785G>A c.(784-786)cGg>cAg p.R262Q RECQL4_ENST00000532237.1_5'UTR NM_004260.3 NP_004251.3 O94761 RECQ4_HUMAN RecQ protein-like 4 262 DNA duplex unwinding|DNA recombination|DNA repair cytoplasm|nucleus ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 26 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) GTTCCATCTCCGCTTCTCGCC 0.672000 """N, F, S""" """osteosarcoma, skin basal and sqamous cell""" Genes defective in diseases associated with sensitivity to DNA damaging agents Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome 8 85 0 0 0.307466 0 0 ABCC9 10060 broad.mit.edu 37 12 22065906 22065906 + Missense_Mutation SNP C C T TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chr12:22065906C>T ENST00000261200.4 - 6 910 c.911G>A c.(910-912)cGc>cAc p.R304H ABCC9_ENST00000345162.2_Missense_Mutation_p.R304H|ABCC9_ENST00000261201.4_Missense_Mutation_p.R304H NM_020297.2 NP_064693.2 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 9 304 ABC transmembrane type-1 1. defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5) 118 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) AGCCAGATAGCGGAATGTGCT 0.423000 47 91 0 0 0.870114 0 0 ALG1L2 0 broad.mit.edu 37 3 129817144 129817144 + RNA SNP G G T TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chr3:129817144G>T ENST00000507643.1 + 0 726 C9J202 AG1L2_HUMAN biosynthetic process transferase activity, transferring glycosyl groups TGCGGGAGTCGCAGCAGCTCT 0.527000 4 98 5.18039e-06 5.67043e-06 0.278610 1 0 FAT3 120114 broad.mit.edu 37 11 92086739 92086739 + Silent SNP G G A TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chr11:92086739G>A ENST00000298047.6 + 1 1478 c.1461G>A c.(1459-1461)gtG>gtA p.V487V FAT3_ENST00000409404.2_Silent_p.V487V|FAT3_ENST00000541502.1_Silent_p.V487V|FAT3_ENST00000525166.1_Silent_p.V337V Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 487 Cadherin 5. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) GTGTCCCAGTGGGAACCAGCG 0.418000 TCGA Ovarian(4;0.039) 19 43 0 0 0.557998 0 0 HIF3A 64344 broad.mit.edu 37 19 46825111 46825111 + Missense_Mutation SNP G G A TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chr19:46825111G>A ENST00000339613.2 + 10 1310 c.1055G>A c.(1054-1056)cGt>cAt p.R352H HIF3A_ENST00000600383.1_Missense_Mutation_p.R339H|HIF3A_ENST00000377670.4_Missense_Mutation_p.R408H|HIF3A_ENST00000472815.1_Missense_Mutation_p.R339H|HIF3A_ENST00000420102.2_Missense_Mutation_p.R357H|HIF3A_ENST00000244303.6_Missense_Mutation_p.R339H|HIF3A_ENST00000300862.3_Missense_Mutation_p.R406H|AC007193.10_ENST00000596807.1_RNA Q9Y2N7 HIF3A_HUMAN hypoxia inducible factor 3, alpha subunit 408 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 33 Ovarian(192;0.00965)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136) GACCCCCGCCGTTTCTGCAGC 0.692000 18 99 0 0 0.681144 0 0 ZFYVE28 57732 broad.mit.edu 37 4 2306052 2306052 + Missense_Mutation SNP G G A rs117669252 byFrequency TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chr4:2306052G>A ENST00000290974.2 - 8 2354 c.2015C>T c.(2014-2016)tCg>tTg p.S672L ZFYVE28_ENST00000515312.1_Missense_Mutation_p.S602L|RP11-478C1.7_ENST00000510632.1_RNA|ZFYVE28_ENST00000511071.1_Missense_Mutation_p.S642L NM_020972.2 NP_066023.2 Q9HCC9 LST2_HUMAN zinc finger, FYVE domain containing 28 672 S -> P (in dbSNP:rs661301). negative regulation of epidermal growth factor receptor activity cytosol|early endosome membrane metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding p.S672L(1) NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4) 31 CTCGTGAGCCGAGGGGCTCCC 0.667000 125 100 0 0 0.870114 0 0 PCDHGC5 0 broad.mit.edu 37 5 140869501 140869501 + Missense_Mutation SNP G G A TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chr5:140869501G>A ENST00000252087.1 + 1 694 c.694G>A c.(694-696)Gtg>Atg p.V232M PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron NM_018929.2|NM_032403.2|NM_032407.1 NP_061752.1|NP_115779.1|NP_115783.1 Q9Y5F6 PCDGM_HUMAN 232 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCTGTCATCGTGCTGGACAT 0.557000 102 154 0 0 0.870114 0 0 KIAA0753 9851 broad.mit.edu 37 17 6503779 6503779 + Splice_Site SNP C C T TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chr17:6503779C>T ENST00000361413.3 - 13 2368 c.e13-1 KIAA0753_ENST00000589033.1_Splice_Site|KIAA0753_ENST00000575027.1_Splice_Site|KIAA0753_ENST00000572370.1_Splice_Site|KIAA0753_ENST00000542606.1_Splice_Site NM_014804.2 NP_055619.2 Q2KHM9 K0753_HUMAN KIAA0753 centrosome endometrium(4)|large_intestine(11)|lung(5)|prostate(4) 24 COAD - Colon adenocarcinoma(228;0.157) GGCAGAAACACTATTTAGAAA 0.383000 46 90 0 0 0.870114 0 0 KLHL4 0 broad.mit.edu 37 X 86887270 86887270 + Missense_Mutation SNP T T C TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chrX:86887270T>C ENST00000373119.4 + 7 1530 c.1385T>C c.(1384-1386)aTg>aCg p.M462T KLHL4_ENST00000373114.4_Missense_Mutation_p.M462T NM_019117.4 NP_061990.2 Q9C0H6 KLHL4_HUMAN kelch-like family member 4 462 cytoplasm|microtubule cytoskeleton|nucleolus actin binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1) 67 ATTGGCACCATGAATGGCCGT 0.393000 3 43 0 0 0.115264 0 0 HNF1A 6927 broad.mit.edu 37 12 121435350 121435350 + Silent SNP C C T TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chr12:121435350C>T ENST00000257555.6 + 7 1609 c.1383C>T c.(1381-1383)ccC>ccT p.P461P HNF1A_ENST00000402929.1_3'UTR|HNF1A_ENST00000538626.1_Silent_p.P43P|HNF1A_ENST00000400024.2_Silent_p.P461P|HNF1A_ENST00000544413.1_Silent_p.P461P|HNF1A_ENST00000541395.1_Silent_p.P461P P20823 HNF1A_HUMAN HNF1 homeobox A 461 glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption cytoplasm|nucleus|protein complex DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1) 221 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) CCCTGCAGCCCGTCCAGTTCT 0.652000 Hepatic Adenoma, Familial Clustering of 27 43 0 0 0.693898 0 0 TPM4 7171 broad.mit.edu 37 19 16204531 16204531 + Missense_Mutation SNP C C G TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chr19:16204531C>G ENST00000300933.4 + 7 892 c.632C>G c.(631-633)gCa>gGa p.A211G TPM4_ENST00000344824.6_Missense_Mutation_p.A247G|TPM4_ENST00000591645.1_3'UTR|TPM4_ENST00000538887.1_Missense_Mutation_p.A247G NM_003290.2 NP_003281.1 P67936 TPM4_HUMAN tropomyosin 4 211 cellular component movement|muscle filament sliding|response to oxidative stress cytosol|muscle thin filament tropomyosin|stress fiber actin binding|calcium ion binding|structural constituent of muscle TPM4/ALK(12) breast(1)|large_intestine(3) 4 AGAACGGTTGCAAAACTGGAA 0.483000 T ALK ALCL 5 196 0 0 0.217242 0 0 CDC14B 8555 broad.mit.edu 37 9 99285902 99285902 + Missense_Mutation SNP G G A TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chr9:99285902G>A ENST00000375241.1 - 10 1503 c.1052C>T c.(1051-1053)tCg>tTg p.S351L CDC14B_ENST00000463569.1_Missense_Mutation_p.S351L|CDC14B_ENST00000265659.2_Missense_Mutation_p.S351L|CDC14B_ENST00000375242.3_Missense_Mutation_p.S314L|CDC14B_ENST00000375240.3_Missense_Mutation_p.S351L|CDC14B_ENST00000375236.1_Missense_Mutation_p.S351L NM_003671.3|NM_033331.2 NP_003662.1|NP_201588.1 O60729 CC14B_HUMAN cell division cycle 14B 351 B. activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint nucleolus|nucleoplasm protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1) 15 Acute lymphoblastic leukemia(62;0.0559) CCCAATCACCGAGCCAGGTCT 0.537000 13 136 0 0 0.457914 0 0 ALG1L2 0 broad.mit.edu 37 3 129817138 129817138 + RNA SNP G G A TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chr3:129817138G>A ENST00000507643.1 + 0 720 C9J202 AG1L2_HUMAN biosynthetic process transferase activity, transferring glycosyl groups AGAACCTGCGGGAGTCGCAGC 0.522000 4 105 0 0 0.217242 0 0 FBN3 84467 broad.mit.edu 37 19 8191671 8191671 + Missense_Mutation SNP C C T TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chr19:8191671C>T ENST00000600128.1 - 19 2756 c.2342G>A c.(2341-2343)cGg>cAg p.R781Q FBN3_ENST00000601739.1_Missense_Mutation_p.R781Q|FBN3_ENST00000270509.2_Missense_Mutation_p.R781Q Q75N90 FBN3_HUMAN fibrillin 3 781 EGF-like 10; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 GGCCAGGTTCCGACAGACGCC 0.662000 4 110 0 0 0.150653 0 0 PIK3CA 5290 broad.mit.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A rs104886003 TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chr3:178936091G>A ENST00000263967.3 + 10 1790 c.1633G>A c.(1633-1635)Gag>Aag p.E545K NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 545 PI3K helical. E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E545K(881)|p.E545Q(18) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TGAAATCACTGAGCAGGAGAA 0.353000 E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS) 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 4 116 0 0 0.184627 0 0 SV2C 22987 broad.mit.edu 37 5 75490817 75490817 + Silent SNP A A G TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chr5:75490817A>G ENST00000502798.2 + 3 1096 c.654A>G c.(652-654)aaA>aaG p.K218K SV2C_ENST00000322285.7_Silent_p.K218K NM_014979.1 NP_055794.1 Q496J9 SV2C_HUMAN synaptic vesicle glycoprotein 2C 218 neurotransmitter transport cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184) OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40) TGGGAAGGAAACAGTCTCTTC 0.468000 149 249 0 0 0.870114 0 0 SOX7 83595 broad.mit.edu 37 8 10584117 10584117 + Missense_Mutation SNP G G A TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chr8:10584117G>A ENST00000304501.1 - 2 376 c.298C>T c.(298-300)Cgg>Tgg p.R100W SOX7_ENST00000553390.1_Missense_Mutation_p.R152W|SOX7_ENST00000554914.1_Missense_Mutation_p.R152W NM_031439.2 NP_113627.1 Q9BT81 SOX7_HUMAN SRY (sex determining region Y)-box 7 100 endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway cytoplasm|nucleus transcription regulatory region DNA binding breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 COAD - Colon adenocarcinoma(149;0.0732) AGGCGCAGCCGCTCCGCCTCG 0.647000 50 21 0 0 0.870114 0 0 SPATA31D5P 0 broad.mit.edu 37 9 84533451 84533451 + RNA SNP G G A TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chr9:84533451G>A ENST00000527857.1 + 0 3473 NR_026851.1 TCAGGGCAGTGGAAAGACCTT 0.478000 4 6 0 0 0.184627 0 0 CES4A 283848 broad.mit.edu 37 16 67037031 67037031 + Missense_Mutation SNP C C T TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chr16:67037031C>T ENST00000540947.2 + 6 933 c.749C>T c.(748-750)gCg>gTg p.A250V CES4A_ENST00000535696.1_Missense_Mutation_p.A156V|CES4A_ENST00000398354.1_Missense_Mutation_p.A250V|CES4A_ENST00000540579.1_Missense_Mutation_p.A152V|CES4A_ENST00000338718.4_Missense_Mutation_p.A273V|CES4A_ENST00000326686.5_Missense_Mutation_p.A250V|CES4A_ENST00000541479.1_Missense_Mutation_p.A273V NM_173815.6 NP_776176.5 Q5XG92 EST4A_HUMAN carboxylesterase 4A 250 extracellular region carboxylesterase activity large_intestine(2)|liver(2)|lung(4)|ovary(1) 9 AGTGGCACCGCGTTATTCAGA 0.552000 64 37 0 0 0.870114 0 0 ITGA9 3680 broad.mit.edu 37 3 37512575 37512575 + Missense_Mutation SNP G G A TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chr3:37512575G>A ENST00000264741.5 + 2 519 c.263G>A c.(262-264)cGt>cAt p.R88H ITGA9_ENST00000422441.1_Missense_Mutation_p.R88H NM_002207.2 NP_002198.2 Q13797 ITA9_HUMAN integrin, alpha 9 88 axon guidance|cell adhesion|integrin-mediated signaling pathway integrin complex receptor activity breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1) 44 KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197) TTTAAGTGCCGTGTTCACACC 0.532000 77 124 0 0 0.870114 0 0 BMS1 9790 broad.mit.edu 37 10 43288455 43288455 + Missense_Mutation SNP G G A TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chr10:43288455G>A ENST00000374518.4 + 8 1015 c.952G>A c.(952-954)Gct>Act p.A318T NM_014753.3 NP_055568.3 Q14692 BMS1_HUMAN BMS1 ribosome biogenesis factor 318 ribosome assembly nucleolus ATP binding|GTP binding|GTPase activity NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 AGACCCTTGCGCTCTTCCTGA 0.498000 6 287 0 0 0.217242 0 0 HGS 9146 broad.mit.edu 37 17 79657219 79657219 + Silent SNP C C A TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chr17:79657219C>A ENST00000329138.4 + 6 558 c.423C>A c.(421-423)gtC>gtA p.V141V NM_004712.4 NP_004703.1 O14964 HGS_HUMAN hepatocyte growth factor-regulated tyrosine kinase substrate 141 VHS. cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process cytosol|early endosome membrane|multivesicular body membrane metal ion binding|protein domain specific binding endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 12 all_neural(118;0.0878)|all_lung(278;0.23) BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955) CAGGGCACGTCTTTCCAGAAT 0.607000 14 146 1.3612e-06 1.53135e-06 0.479597 1 0 PCDHA9 0 broad.mit.edu 37 5 140229647 140229647 + Silent SNP T T C TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chr5:140229647T>C ENST00000378122.3 + 1 2291 c.1567T>C c.(1567-1569)Ttg>Ctg p.L523L PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Silent_p.L523L|PCDHA1_ENST00000504120.2_Intron NM_014005.3 NP_054724.1 breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 59 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCTGCAGCCGTTGGACCACGA 0.682000 7 365 0 0 0.387290 0 0 TRIOBP 11078 broad.mit.edu 37 22 38121845 38121845 + Silent SNP C C T TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chr22:38121845C>T ENST00000406386.3 + 7 3537 c.3282C>T c.(3280-3282)gcC>gcT p.A1094A RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 1094 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) CATCAGATGCCGAGCATCAGT 0.652000 6 279 0 0 0.248553 0 0 TXNDC2 0 broad.mit.edu 37 18 9886894 9886894 + Missense_Mutation SNP A A G rs146821851 TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chr18:9886894A>G ENST00000306084.6 + 2 617 c.418A>G c.(418-420)Aaa>Gaa p.K140E TXNDC2_ENST00000536353.2_Missense_Mutation_p.K73E|TXNDC2_ENST00000584255.1_3'UTR|TXNDC2_ENST00000357775.4_Missense_Mutation_p.K73E|TXNDC2_ENST00000426718.3_3'UTR NM_001098529.1 NP_001091999.1 Q86VQ3 TXND2_HUMAN thioredoxin domain containing 2 (spermatozoa) 140 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 p.K140E(2)|p.K73E(2) 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 GTCCTCAGAAAAAGCCATCCA 0.547000 5 290 0 0 0.248553 0 0 GRB2 0 broad.mit.edu 37 17 73317762 73317762 + Missense_Mutation SNP C C T TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chr17:73317762C>T ENST00000392562.1 - 5 1228 c.446G>A c.(445-447)cGg>cAg p.R149Q GRB2_ENST00000578961.1_Intron|GRB2_ENST00000392563.1_Missense_Mutation_p.R108Q|GRB2_ENST00000316615.5_Missense_Mutation_p.R108Q|GRB2_ENST00000392564.1_Missense_Mutation_p.R149Q|GRB2_ENST00000316804.5_Missense_Mutation_p.R149Q|GRB2_ENST00000462266.1_5'UTR P62993 GRB2_HUMAN growth factor receptor-bound protein 2 149 SH2. axon guidance|blood coagulation|cell junction assembly|cell-cell signaling|cellular response to ionizing radiation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|receptor internalization|signal transduction in response to DNA damage|T cell costimulation cytosol|Golgi apparatus epidermal growth factor receptor binding|insulin receptor substrate binding|SH3/SH2 adaptor activity breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1) 17 all_cancers(13;5.44e-09)|all_epithelial(9;1.1e-09)|Breast(9;1.85e-09)|all_lung(278;0.222) all cancers(21;1.09e-07)|Epithelial(20;1.23e-06)|Lung(188;0.185) Pegademase bovine(DB00061) TTCTATGTCCCGCAGGAATAT 0.463000 8 96 0 0 0.278610 0 0 ZFAT 57623 broad.mit.edu 37 8 135614479 135614479 + Missense_Mutation SNP T T C TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chr8:135614479T>C ENST00000520727.1 - 7 1746 c.1447A>G c.(1447-1449)Aac>Gac p.N483D ZFAT_ENST00000520214.1_Missense_Mutation_p.N483D|ZFAT_ENST00000523399.1_Missense_Mutation_p.N433D|ZFAT_ENST00000429442.2_Missense_Mutation_p.N483D|ZFAT_ENST00000520356.1_Missense_Mutation_p.N483D|ZFAT_ENST00000377838.3_Missense_Mutation_p.N495D NM_001029939.3 NP_001025110.2 Q9P243 ZFAT_HUMAN zinc finger and AT hook domain containing 495 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0432) AAGCTCTGGTTGATGGAACTG 0.607000 4 118 0 0 0.150653 0 0 NYNRIN 57523 broad.mit.edu 37 14 24877239 24877239 + Silent SNP C C T TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chr14:24877239C>T ENST00000382554.3 + 3 681 c.363C>T c.(361-363)ggC>ggT p.G121G NM_025081.2 NP_079357.2 Q9P2P1 NYNRI_HUMAN NYN domain and retroviral integrase containing 121 DNA integration integral to membrane DNA binding breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 56 TGATGGTGGGCGGGCTGACTG 0.667000 5 127 0 0 0.248553 0 0 PCLO 27445 broad.mit.edu 37 7 82784471 82784471 + Missense_Mutation SNP A A G TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chr7:82784471A>G ENST00000423517.2 - 2 1823 c.1486T>C c.(1486-1488)Tca>Cca p.S496P PCLO_ENST00000333891.8_Missense_Mutation_p.S496P NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 442 10 X 10 AA tandem approximate repeats of P-A-K-P-Q-P-Q-Q-P-X.|Gln-rich.|Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity p.S496P(6)|p.?(3) breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GGCTTTGCTGAGCCAGGCTGT 0.607000 12 359 0 0 0.624587 0 0 ALG1L2 0 broad.mit.edu 37 3 129817127 129817127 + RNA SNP A A C TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chr3:129817127A>C ENST00000507643.1 + 0 709 C9J202 AG1L2_HUMAN biosynthetic process transferase activity, transferring glycosyl groups CCAGTTCCGGAAGAACCTGCG 0.522000 4 112 0 0 0.248553 0 0 RGPD8 727851 broad.mit.edu 37 2 113127775 113127775 + Missense_Mutation SNP G G C TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chr2:113127775G>C ENST00000302558.3 - 23 5469 c.5278C>G c.(5278-5280)Cct>Gct p.P1760A RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A NM_001164463.1 NP_001157935.1 RANBP2-like and GRIP domain containing 8 p.P1760A(12) endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1) 10 GAACGGGAAGGATTTTCTTCC 0.308000 4 45 0 0 0.150653 0 0 MUC17 140453 broad.mit.edu 37 7 100678305 100678305 + Missense_Mutation SNP C C T TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chr7:100678305C>T ENST00000306151.4 + 3 3672 c.3608C>T c.(3607-3609)aCt>aTt p.T1203I NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 1203 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) CCTCCTCCAACTGCTGAAGTT 0.517000 19 626 0 0 0.575678 0 0 RPTN 126638 broad.mit.edu 37 1 152128689 152128689 + Missense_Mutation SNP C C T TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chr1:152128689C>T ENST00000316073.3 - 3 950 c.886G>A c.(886-888)Ggt>Agt p.G296S NM_001122965.1 NP_001116437.1 Q6XPR3 RPTN_HUMAN repetin 296 Gln-rich. proteinaceous extracellular matrix calcium ion binding breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 TCCGTCTGACCGTAGTGGGAA 0.498000 7 981 0 0 0.184627 0 0 TOP1MT 116447 broad.mit.edu 37 8 144398199 144398199 + Silent SNP G G A TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chr8:144398199G>A ENST00000523676.1 - 12 1539 c.1134C>T c.(1132-1134)ttC>ttT p.F378F TOP1MT_ENST00000521193.1_Silent_p.F378F|TOP1MT_ENST00000519148.1_Silent_p.F378F|TOP1MT_ENST00000329245.4_Silent_p.F476F Q969P6 TOP1M_HUMAN topoisomerase (DNA) I, mitochondrial 476 DNA topological change chromosome|mitochondrial nucleoid ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2) 23 all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173) Irinotecan(DB00762)|Topotecan(DB01030) TCGACTTCTCGAACGTACTGG 0.607000 7 380 0 0 0.278610 0 0 EFS 0 broad.mit.edu 37 14 23828664 23828664 + Silent SNP T T G TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chr14:23828664T>G ENST00000216733.3 - 4 1630 c.1023A>C c.(1021-1023)ccA>ccC p.P341P EFS_ENST00000351354.3_Silent_p.P248P|EFS_ENST00000429593.2_Silent_p.P172P NM_005864.2 NP_005855.1 O43281 EFS_HUMAN embryonal Fyn-associated substrate 341 Pro-rich. cell adhesion|intracellular signal transduction cytoplasm SH3 domain binding endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2) 16 all_cancers(95;7.12e-06) GBM - Glioblastoma multiforme(265;0.00649) GCAGGCGGGGTGGGGGTGGGG 0.697000 12 63 0 0 0.608945 0 0 CPXM1 56265 broad.mit.edu 37 20 2774864 2774864 + Missense_Mutation SNP A A G TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chr20:2774864A>G ENST00000380605.2 - 14 2241 c.2177T>C c.(2176-2178)cTg>cCg p.L726P NM_001184699.1|NM_019609.4 NP_001171628.1|NP_062555.1 Q96SM3 CPXM1_HUMAN carboxypeptidase X (M14 family), member 1 726 cell adhesion|proteolysis metallocarboxypeptidase activity|zinc ion binding endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 TAGCCGCTCCAGGCGCCTGCG 0.627000 7 137 0 0 0.248553 0 0 ZNRD1-AS1 0 broad.mit.edu 37 6 29977342 29977342 + RNA SNP A A T rs116382006 by1000genomes TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chr6:29977342A>T ENST00000376797.3 - 0 731 ZNRD1-AS1_ENST00000420251.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA TGGGACTGAGAGGCAAGATTT 0.438000 6 109 0 0 0.361761 0 0 PRG4 10216 broad.mit.edu 37 1 186276640 186276640 + Missense_Mutation SNP A A C TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chr1:186276640A>C ENST00000445192.2 + 7 1834 c.1789A>C c.(1789-1791)Acc>Ccc p.T597P PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Missense_Mutation_p.T556P|PRG4_ENST00000367485.4_Missense_Mutation_p.T504P|PRG4_ENST00000367486.3_Missense_Mutation_p.T554P NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 597 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.T597P(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 ACCCACCACCACCAAGAAGCC 0.652000 8 197 0 0 0.654019 0 0 AGFG1 3267 broad.mit.edu 37 2 228388627 228388627 + Missense_Mutation SNP G G A TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chr2:228388627G>A ENST00000310078.7 + 4 786 c.526G>A c.(526-528)Ggc>Agc p.G176S AGFG1_ENST00000409979.2_Missense_Mutation_p.G176S|AGFG1_ENST00000373671.3_Missense_Mutation_p.G176S|AGFG1_ENST00000486932.1_3'UTR|AGFG1_ENST00000409171.1_Missense_Mutation_p.G176S|AGFG1_ENST00000409315.1_Missense_Mutation_p.G176S NM_001135188.1|NM_004504.4 NP_001128660.1|NP_004495.2 P52594 AGFG1_HUMAN ArfGAP with FG repeats 1 176 cell differentiation|mRNA export from nucleus|multicellular organismal development|regulation of ARF GTPase activity|spermatogenesis cytoplasmic membrane-bounded vesicle|Golgi apparatus|nuclear pore ARF GTPase activator activity|DNA binding|protein binding|RNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(2)|ovary(1)|prostate(1)|skin(4)|stomach(1) 18 CTTAAATAAGGGCACACCTAG 0.433000 23 173 0 0 0.654019 0 0 EFS 0 broad.mit.edu 37 14 23828670 23828670 + Silent SNP T T G TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chr14:23828670T>G ENST00000216733.3 - 4 1624 c.1017A>C c.(1015-1017)ccA>ccC p.P339P EFS_ENST00000351354.3_Silent_p.P246P|EFS_ENST00000429593.2_Silent_p.P170P NM_005864.2 NP_005855.1 O43281 EFS_HUMAN embryonal Fyn-associated substrate 339 Pro-rich. cell adhesion|intracellular signal transduction cytoplasm SH3 domain binding endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2) 16 all_cancers(95;7.12e-06) GBM - Glioblastoma multiforme(265;0.00649) GGGGTGGGGGTGGGGGCAGAG 0.697000 11 60 0 0 0.557998 0 0 ENPP2 0 broad.mit.edu 37 8 120608106 120608106 + Missense_Mutation SNP G G A rs142695308 TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chr8:120608106G>A ENST00000259486.6 - 12 1158 c.1109C>T c.(1108-1110)gCg>gTg p.A370V ENPP2_ENST00000427067.2_Intron|ENPP2_ENST00000075322.6_Intron|ENPP2_ENST00000522826.1_Intron NM_006209.4 NP_006200.3 Q13822 ENPP2_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 2 324 cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration extracellular space|integral to plasma membrane alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding p.A370V(1) breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4) 69 Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) ACGAGTTTCCGCAGCATAATG 0.443000 19 540 0 0 0.639603 0 0 HSD17B3 3293 broad.mit.edu 37 9 99013718 99013718 + Silent SNP G G A rs115684579 by1000genomes TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chr9:99013718G>A ENST00000375263.3 - 5 482 c.435C>T c.(433-435)aaC>aaT p.N145N HSD17B3_ENST00000375262.2_Silent_p.N145N NM_000197.1 NP_000188.1 P37058 DHB3_HUMAN hydroxysteroid (17-beta) dehydrogenase 3 145 androgen biosynthetic process|male genitalia development endoplasmic reticulum membrane|microsome binding|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity breast(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 13 Acute lymphoblastic leukemia(62;0.0171)|all_hematologic(171;0.214) NADH(DB00157) CATCCGGTGCGTTCAGGAAAT 0.478000 41 53 0 0 0.870114 0 0 AC018890.6 0 broad.mit.edu 37 2 175585079 175585079 + RNA DEL A A - TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chr2:175585079delA ENST00000442996.1 + 0 217 TTTCATTCTCAAAAAAAAAAA 0.368 OREG0015078 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 11 --- --- --- --- RP11-325B23.2 0 broad.mit.edu 37 3 98031434 98031434 + RNA DEL A A - TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chr3:98031434delA ENST00000508616.1 + 0 149 OR5H8P_ENST00000394191.2_RNA TTACAATCTTAAAAAAAAAAG 0.333 9 46 --- --- --- --- RP11-3P17.4 0 broad.mit.edu 37 3 161146872 161146873 + RNA DEL AT AT - TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chr3:161146872_161146873delAT ENST00000473595.1 + 0 1231 NR_102265.1 TGGTGAAAAGATATATATATAT 0.342 7 41 --- --- --- --- CFI 3426 broad.mit.edu 37 4 110662159 110662159 + Frame_Shift_Del DEL C C - rs7437875 byFrequency TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chr4:110662159delC ENST00000394634.2 - 13 1849 c.1642delG c.(1642-1644)aafs p.E548fs CFI_ENST00000512148.1_Frame_Shift_Del_p.E541fs|CFI_ENST00000394635.3_Frame_Shift_Del_p.E556fs NM_000204.3 NP_000195.2 P05156 CFAI_HUMAN complement factor I 548 Peptidase S1. complement activation, classical pathway|innate immune response|proteolysis extracellular space|membrane scavenger receptor activity|serine-type endopeptidase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1) 27 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000331) CCACAGTTTTCCCCCCAACTC 0.463 7 746 --- --- --- --- RP11-423H2.1 0 broad.mit.edu 37 5 177310522 177310522 + RNA DEL G G - TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chr5:177310522delG ENST00000506672.1 + 0 964 NR_003615.2 ctctgtgcctgggggttctct 0.478 3 5 --- --- --- --- HLA-F-AS1 0 broad.mit.edu 37 6 29709414 29709414 + RNA DEL A A - TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chr6:29709414delA ENST00000458236.1 - 0 349 tagtttccccatttcatagat 0.458 4 8 --- --- --- --- TMEM184A 202915 broad.mit.edu 37 7 1586662 1586663 + In_Frame_Ins INS - - GCC rs3837151 by1000genomes TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chr7:1586662_1586663insGCC ENST00000297477.5 - 9 1483_1484 c.1167_1168insGGC c.(1165-1170)ccgcgg>ccGGCgcgg p.389_390PR>PAR NM_001097620.1 NP_001091089.1 Q6ZMB5 T184A_HUMAN transmembrane protein 184A 389 integral to membrane endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 12 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15) GAGCCGCCGCTGGGGTGGGTGC 0.703 21 46 --- --- --- --- STEAP2-AS1 0 broad.mit.edu 37 7 89748927 89748928 + RNA INS - - C rs138239781 by1000genomes TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chr7:89748927_89748928insC ENST00000478318.2 - 0 424 RP5-1121E10.2_ENST00000471553.1_lincRNA|DPY19L2P4_ENST00000497063.1_RNA GGTGCGGGCCTCCCCCTTCCCC 0.639 4 6 --- --- --- --- SULF1 23213 broad.mit.edu 37 8 70514026 70514026 + Frame_Shift_Del DEL T T - TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chr8:70514026delT ENST00000260128.4 + 10 1740 c.1023delT c.(1021-1023)ccfs p.P341fs SULF1_ENST00000402687.4_Frame_Shift_Del_p.P341fs|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000419716.3_Frame_Shift_Del_p.P341fs|SULF1_ENST00000458141.2_Frame_Shift_Del_p.P341fs NM_015170.2 NP_055985.2 Q8IWU6 SULF1_HUMAN sulfatase 1 341 apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) TTCGTGTGCCTTTTTTTATTC 0.408 7 850 --- --- --- --- ADCK5 203054 broad.mit.edu 37 8 145617535 145617549 + Splice_Site DEL GGGGGTGCAAGGTGA GGGGGTGCAAGGTGA - rs11270020 TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chr8:145617535_145617549delGGGGGTGCAAGGTGA ENST00000308860.6 + 12 1301_1311 c.1267_splice c.e12+1 p.L419_splice NM_174922.3 NP_777582.3 Q3MIX3 ADCK5_HUMAN aarF domain containing kinase 5 419 Protein kinase. integral to membrane protein serine/threonine kinase activity p.?(2) endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2) 8 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055) CAGCCGCACTGGGGGTGCAAGGTGAGGGGGTGCAA 0.730 3 5 --- --- --- --- PRF1 5551 broad.mit.edu 37 10 72358622 72358624 + In_Frame_Del DEL CTT CTT - TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chr10:72358622_72358624delCTT ENST00000441259.1 - 3 1013_1015 c.853_855delAAG c.(853-855)del p.K285del PRF1_ENST00000373209.2_In_Frame_Del_p.K285del NM_001083116.1|NM_005041.4 NP_001076585.1|NP_005032.2 P14222 PERF_HUMAN perforin 1 (pore forming protein) 285 MACPF. Missing (in FHL2). apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane calcium ion binding|protein binding|wide pore channel activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3) 23 TCATCTTGTGCTTCTTCTTCTTC 0.591 M """various leukaemia, lymphoma""" Type 2 familial hemophagocytic lymphohistiocytosis Familial Hemophagocytic Lymphohistiocytosis 9 221 --- --- --- --- FAS 355 broad.mit.edu 37 10 90768708 90768708 + Frame_Shift_Del DEL T T - TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chr10:90768708delT ENST00000355740.2 + 4 617 c.397delT c.(397-399)ttfs p.F134fs FAS_ENST00000357339.2_Frame_Shift_Del_p.F134fs|FAS_ENST00000352159.4_Frame_Shift_Del_p.F134fs|FAS_ENST00000313771.5_3'UTR|FAS_ENST00000355279.2_Frame_Shift_Del_p.F134fs NM_000043.4|NM_152871.2|NM_152872.2 NP_000034.1|NP_690610.1|NP_690611.1 P25445 TNR6_HUMAN Fas cell surface death receptor 134 activation of caspase activity|activation of pro-apoptotic gene products|anti-apoptosis|cellular response to mechanical stimulus|positive regulation of necrotic cell death cytosol|extracellular region|integral to membrane|soluble fraction identical protein binding|kinase binding breast(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2) 18 Colorectal(252;0.0161) Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193) TAAACCAAACTTTTTTTGTAA 0.368 7 831 --- --- --- --- AHNAK 79026 broad.mit.edu 37 11 62299465 62299466 + Frame_Shift_Ins INS - - A TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chr11:62299465_62299466insA ENST00000378024.4 - 5 2697_2698 c.2423_2424insT c.(2422-2424)accfs p.T808fs AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 808 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) TCATCTCAGGCATCTTAAACTT 0.460 16 429 --- --- --- --- FBN1 2200 broad.mit.edu 37 15 48788406 48788407 + Frame_Shift_Ins INS - - A TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chr15:48788406_48788407insA ENST00000316623.5 - 20 2764_2765 c.2309_2310insT c.(2308-2310)gctfs p.A770fs NM_000138.4 NP_000129.3 P35555 FBN1_HUMAN fibrillin 1 770 EGF-like 12; calcium-binding. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 139 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) GACTGTTCAGTACACATTCATT 0.351 76 101 --- --- --- --- SLX4 84464 broad.mit.edu 37 16 3647657 3647657 + Frame_Shift_Del DEL G G - TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chr16:3647657delG ENST00000294008.3 - 7 2046 c.1406delC c.(1405-1407)cafs p.P469fs NM_032444.2 NP_115820.2 Q8IY92 SLX4_HUMAN SLX4 structure-specific endonuclease subunit 469 Interaction with C20orf94, ERCC4 and MSH2. DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair Slx1-Slx4 complex enzyme activator activity|protein binding breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 TAACAACAATGGGGGGGATAC 0.547 Direct reversal of damage 7 451 --- --- --- --- KIAA0430 9665 broad.mit.edu 37 16 15729982 15729984 + In_Frame_Del DEL CCA CCA - TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chr16:15729982_15729984delCCA ENST00000396368.3 - 3 566_568 c.360_362delTGG c.(358-363)ggc>gg p.GG120del KIAA0430_ENST00000602337.1_In_Frame_Del_p.GG120del|KIAA0430_ENST00000551742.1_In_Frame_Del_p.GG120del|KIAA0430_ENST00000548025.1_In_Frame_Del_p.GG120del|KIAA0430_ENST00000540441.2_In_Frame_Del_p.GG120del|KIAA0430_ENST00000344181.3_5'UTR NM_001184998.1|NM_001184999.1|NM_014647.3 NP_001171927.1|NP_001171928.1|NP_055462.2 Q9Y4F3 LKAP_HUMAN KIAA0430 119 Poly-Gly. peroxisome nucleotide binding|RNA binding breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1) 40 TCCGCTACCGCCACCACCACCAC 0.532 7 419 --- --- --- --- RP11-19N8.2 0 broad.mit.edu 37 16 32989803 32989804 + RNA INS - - T TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chr16:32989803_32989804insT ENST00000567619.1 - 0 499 CTGAAGGATCATTTTTTTGGTG 0.475 11 56 --- --- --- --- HIC1 3090 broad.mit.edu 37 17 1960405 1960407 + In_Frame_Del DEL GGC GGC - TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chr17:1960405_1960407delGGC ENST00000399849.2 + 2 581_583 c.421_423delGGC c.(421-423)del p.G148del HIC1_ENST00000322941.3_In_Frame_Del_p.G167del NM_006497.3 NP_006488.2 Q14526 HIC1_HUMAN hypermethylated in cancer 1 167 multicellular organismal development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(1)|lung(1)|prostate(1) 3 READ - Rectum adenocarcinoma(1115;0.236) CCACCTGCGGggcggcggcggcg 0.764 6 8 --- --- --- --- ECSIT 51295 broad.mit.edu 37 19 11618821 11618821 + Frame_Shift_Del DEL G G - TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chr19:11618821delG ENST00000270517.7 - 5 916 c.781delC c.(781-783)agfs p.Q261fs ECSIT_ENST00000417981.2_Frame_Shift_Del_p.Q47fs|ECSIT_ENST00000591352.1_5'UTR|ECSIT_ENST00000252440.7_Frame_Shift_Del_p.Q261fs|ECSIT_ENST00000591104.1_Frame_Shift_Del_p.Q261fs|ECSIT_ENST00000592312.1_Frame_Shift_Del_p.Q145fs|ECSIT_ENST00000588998.1_Frame_Shift_Del_p.Q47fs NM_016581.4 NP_057665.2 Q9BQ95 ECSIT_HUMAN ECSIT signalling integrator 261 innate immune response|regulation of oxidoreductase activity mitochondrion oxidoreductase activity, acting on NADH or NADPH|protein binding kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 11 ATGTGGGGCTGGGGGGGATCT 0.582 7 266 --- --- --- --- NCOA6 23054 broad.mit.edu 37 20 33330968 33330970 + In_Frame_Del DEL TGC TGC - rs140426729 byFrequency TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chr20:33330968_33330970delTGC ENST00000374796.2 - 12 5660_5662 c.3090_3092delGCA c.(3088-3093)caa>ca p.QQ1030del NCOA6_ENST00000359003.2_In_Frame_Del_p.QQ1030del Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 1030 CREBBP-binding region.|Gln-rich.|NCOA1-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 CATCATTtgttgctgctgctgct 0.576 7 172 --- --- --- --- NAP1L2 4674 broad.mit.edu 37 X 72433664 72433666 + In_Frame_Del DEL TCC TCC - TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chrX:72433664_72433666delTCC ENST00000373517.3 - 1 1018_1020 c.663_665delGGA c.(661-666)gac>ga p.ED221del NAP1L2_ENST00000536638.1_In_Frame_Del_p.ED79del NM_021963.3 NP_068798.1 Q9ULW6 NP1L2_HUMAN nucleosome assembly protein 1-like 2 221 Glu-rich (acidic). nucleosome assembly chromatin assembly complex NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3) 29 Renal(35;0.156) CTCAATGTCGtcctcctcctcct 0.424 7 61 --- --- --- ---