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 PCDH11X 27328 broad.mit.edu 37 X 91134233 91134233 + Silent SNP G G A TCGA-CQ-A4C7-01A-11D-A25D-08 TCGA-CQ-A4C7-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a866f81-fa94-45e3-b14e-a2426986b9ef e4ac2486-26df-47bb-8d6e-37ad20ce7731 g.chrX:91134233G>A ENST00000373094.1 + 2 3839 c.2994G>A c.(2992-2994)gtG>gtA p.V998V PCDH11X_ENST00000373088.1_Silent_p.V998V|PCDH11X_ENST00000373097.1_Silent_p.V998V|PCDH11X_ENST00000395337.2_Silent_p.V998V|PCDH11X_ENST00000361655.2_Silent_p.V998V|PCDH11X_ENST00000361724.1_Silent_p.V998V|PCDH11X_ENST00000406881.1_Silent_p.V998V|PCDH11X_ENST00000298274.8_Silent_p.V998V|PCDH11X_ENST00000504220.1_Silent_p.V998V NM_032968.3 NP_116750.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked 998 homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 GCTATCCAGTGACGACCTTCG 0.438000 17 77 0 0 1 0 0 TRIO 7204 broad.mit.edu 37 5 14401070 14401070 + Splice_Site SNP A A G TCGA-CQ-A4C7-01A-11D-A25D-08 TCGA-CQ-A4C7-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a866f81-fa94-45e3-b14e-a2426986b9ef e4ac2486-26df-47bb-8d6e-37ad20ce7731 g.chr5:14401070A>G ENST00000344204.4 + 31 4638 c.e31-1 TRIO_ENST00000537187.1_Splice_Site NM_007118.2 NP_009049.2 O75962 TRIO_HUMAN trio Rho guanine nucleotide exchange factor apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 118 Lung NSC(4;0.000742) CTTTTTATCCAGACCTCAGAG 0.403000 9 20 0 0 1 0 0 PGC 5225 broad.mit.edu 37 6 41708282 41708282 + Missense_Mutation SNP C C G TCGA-CQ-A4C7-01A-11D-A25D-08 TCGA-CQ-A4C7-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a866f81-fa94-45e3-b14e-a2426986b9ef e4ac2486-26df-47bb-8d6e-37ad20ce7731 g.chr6:41708282C>G ENST00000373025.3 - 6 776 c.714G>C c.(712-714)caG>caC p.Q238H NM_002630.3 NP_002621.1 P20142 PEPC_HUMAN progastricsin (pepsinogen C) 238 digestion|proteolysis extracellular space aspartic-type endopeptidase activity endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1) 16 Ovarian(28;0.0355)|Colorectal(47;0.121) Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507) CCCAGTAGATCTGCCCCGTGT 0.617000 6 108 0 0 1 0 0 RABGGTA 5875 broad.mit.edu 37 14 24736895 24736895 + Missense_Mutation SNP C C T TCGA-CQ-A4C7-01A-11D-A25D-08 TCGA-CQ-A4C7-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a866f81-fa94-45e3-b14e-a2426986b9ef e4ac2486-26df-47bb-8d6e-37ad20ce7731 g.chr14:24736895C>T ENST00000399409.3 - 13 1807 c.1324G>A c.(1324-1326)Gag>Aag p.E442K RABGGTA_ENST00000216840.6_Missense_Mutation_p.E442K|RABGGTA_ENST00000560777.1_Missense_Mutation_p.E51K NM_004581.5 NP_004572.3 Q92696 PGTA_HUMAN Rab geranylgeranyltransferase, alpha subunit 442 visual perception Rab geranylgeranyltransferase activity|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6) 12 GBM - Glioblastoma multiforme(265;0.0184) ACACGCACCTCGGCATACTCC 0.617000 6 18 0 0 1 0 0 MT1E 4493 broad.mit.edu 37 16 56660685 56660685 + Silent SNP A A G rs117777471 by1000genomes TCGA-CQ-A4C7-01A-11D-A25D-08 TCGA-CQ-A4C7-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a866f81-fa94-45e3-b14e-a2426986b9ef e4ac2486-26df-47bb-8d6e-37ad20ce7731 g.chr16:56660685A>G ENST00000330439.6 + 2 390 c.336A>G c.(334-336)aaA>aaG p.K112K MT1E_ENST00000306061.6_Intron|MT1E_ENST00000568293.1_Intron P04732 MT1E_HUMAN metallothionein 1E 0 cytoplasm cadmium ion binding|copper ion binding|zinc ion binding AGACGAAAAAAAGCATCCTCT 0.542000 3 25 0 0 1 0 0 CRH 1392 broad.mit.edu 37 8 67089181 67089181 + Missense_Mutation SNP C C T TCGA-CQ-A4C7-01A-11D-A25D-08 TCGA-CQ-A4C7-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a866f81-fa94-45e3-b14e-a2426986b9ef e4ac2486-26df-47bb-8d6e-37ad20ce7731 g.chr8:67089181C>T ENST00000276571.3 - 2 978 c.532G>A c.(532-534)Gag>Aag p.E178K NM_000756.2 NP_000747.1 P06850 CRF_HUMAN corticotropin releasing hormone 178 female pregnancy|negative regulation of circadian sleep/wake cycle, REM sleep|parturition|positive regulation of circadian sleep/wake cycle, wakefulness|positive regulation of cortisol secretion|signal transduction|synaptic transmission extracellular region|soluble fraction neuropeptide hormone activity breast(1)|endometrium(1)|lung(2)|urinary_tract(1) 5 all_cancers(86;2.58e-06)|all_epithelial(80;6.27e-09)|all_lung(136;0.000414)|Lung NSC(129;0.0011) Epithelial(68;0.0136)|all cancers(69;0.0507)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904) Corticotropin(DB01285) GCTAACTGCTCGGCCCTGGCC 0.532000 OREG0018805 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 48 0 0 1 0 0 KIAA1644 85352 broad.mit.edu 37 22 44692710 44692710 + Silent SNP G G A TCGA-CQ-A4C7-01A-11D-A25D-08 TCGA-CQ-A4C7-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a866f81-fa94-45e3-b14e-a2426986b9ef e4ac2486-26df-47bb-8d6e-37ad20ce7731 g.chr22:44692710G>A ENST00000381176.4 - 3 255 c.123C>T c.(121-123)taC>taT p.Y41Y NM_001099294.1 NP_001092764.1 Q3SXP7 K1644_HUMAN KIAA1644 41 integral to membrane breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1) 9 all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222) AGCCAAAGTGGTAGCGGCCTT 0.547000 10 170 0 0 1 0 0 LPA 4018 broad.mit.edu 37 6 161020532 161020532 + Splice_Site SNP G G A TCGA-CQ-A4C7-01A-11D-A25D-08 TCGA-CQ-A4C7-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a866f81-fa94-45e3-b14e-a2426986b9ef e4ac2486-26df-47bb-8d6e-37ad20ce7731 g.chr6:161020532G>A ENST00000447678.1 - 21 3407 c.3287_splice c.e21+1 p.A1096_splice LPA_ENST00000316300.5_Splice_Site_p.A1096_splice NM_005577.2 NP_005568.2 P08519 APOA_HUMAN lipoprotein, Lp(a) 3604 Kringle 10. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1) 107 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) AAAGACGTACGCATTTGGGTA 0.488000 20 246 0 0 1 0 0 NBAS 51594 broad.mit.edu 37 2 15372601 15372601 + Missense_Mutation SNP G G T TCGA-CQ-A4C7-01A-11D-A25D-08 TCGA-CQ-A4C7-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a866f81-fa94-45e3-b14e-a2426986b9ef e4ac2486-26df-47bb-8d6e-37ad20ce7731 g.chr2:15372601G>T ENST00000281513.5 - 47 6206 c.6181C>A c.(6181-6183)Cca>Aca p.P2061T NBAS_ENST00000441750.1_Missense_Mutation_p.P1941T NM_015909.3 NP_056993.2 A2RRP1 NBAS_HUMAN neuroblastoma amplified sequence 2061 NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3) 112 ACCTTCAGTGGGTCCCTTGGC 0.473000 6 31 5.18039e-06 5.56892e-06 1 1 0 CNTN2 6900 broad.mit.edu 37 1 205042245 205042245 + Missense_Mutation SNP G G A TCGA-CQ-A4C7-01A-11D-A25D-08 TCGA-CQ-A4C7-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a866f81-fa94-45e3-b14e-a2426986b9ef e4ac2486-26df-47bb-8d6e-37ad20ce7731 g.chr1:205042245G>A ENST00000331830.4 + 22 3178 c.2894G>A c.(2893-2895)gGc>gAc p.G965D NM_005076.3 NP_005067.1 Q02246 CNTN2_HUMAN contactin 2 (axonal) 965 Fibronectin type-III 4. axon guidance|clustering of voltage-gated potassium channels anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part identical protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 54 all_cancers(21;0.144)|Breast(84;0.0437) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) CACCTCACCGGCAAGAACTGG 0.562000 3 34 0 0 1 0 0 NELL2 4753 broad.mit.edu 37 12 44917200 44917200 + Silent SNP G G A TCGA-CQ-A4C7-01A-11D-A25D-08 TCGA-CQ-A4C7-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a866f81-fa94-45e3-b14e-a2426986b9ef e4ac2486-26df-47bb-8d6e-37ad20ce7731 g.chr12:44917200G>A ENST00000429094.2 - 17 2376 c.1872C>T c.(1870-1872)ggC>ggT p.G624G NELL2_ENST00000549027.1_Silent_p.G623G|NELL2_ENST00000437801.2_Silent_p.G674G|NELL2_ENST00000551601.1_Silent_p.G576G|NELL2_ENST00000395487.2_Silent_p.G623G|NELL2_ENST00000333837.4_Silent_p.G647G|NELL2_ENST00000452445.2_Silent_p.G624G NM_001145108.1 NP_001138580.1 Q99435 NELL2_HUMAN NEL-like 2 (chicken) 624 EGF-like 6; calcium-binding (Potential). cell adhesion extracellular region calcium ion binding|protein binding|structural molecule activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 Lung SC(27;0.192) Lung NSC(34;0.144) GBM - Glioblastoma multiforme(48;0.092) AATCATATCCGCCATCCAAAT 0.443000 9 71 0 0 1 0 0 OR5T3 390154 broad.mit.edu 37 11 56020573 56020573 + Missense_Mutation SNP C C A TCGA-CQ-A4C7-01A-11D-A25D-08 TCGA-CQ-A4C7-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a866f81-fa94-45e3-b14e-a2426986b9ef e4ac2486-26df-47bb-8d6e-37ad20ce7731 g.chr11:56020573C>A ENST00000303059.3 + 1 898 c.898C>A c.(898-900)Cat>Aat p.H300N NM_001004747.1 NP_001004747.1 Q8NGG3 OR5T3_HUMAN olfactory receptor, family 5, subfamily T, member 3 300 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 39 Esophageal squamous(21;0.00448) TGCTTCAGACCATGACATCAT 0.388000 6 89 0.00116845 0.00122544 1 1 0 WHAMMP3 339005 broad.mit.edu 37 15 23191911 23191911 + RNA SNP C C T rs147199465 by1000genomes TCGA-CQ-A4C7-01A-11D-A25D-08 TCGA-CQ-A4C7-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a866f81-fa94-45e3-b14e-a2426986b9ef e4ac2486-26df-47bb-8d6e-37ad20ce7731 g.chr15:23191911C>T ENST00000400153.2 - 0 1785 NR_003521.1 TGATTTTCTTCGCACTGATCC 0.408000 3 16 0 0 1 0 0 OR13F1 138805 broad.mit.edu 37 9 107266698 107266698 + Missense_Mutation SNP A A G TCGA-CQ-A4C7-01A-11D-A25D-08 TCGA-CQ-A4C7-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a866f81-fa94-45e3-b14e-a2426986b9ef e4ac2486-26df-47bb-8d6e-37ad20ce7731 g.chr9:107266698A>G ENST00000334726.2 + 1 244 c.155A>G c.(154-156)gAt>gGt p.D52G NM_001004485.1 NP_001004485.1 Q8NGS4 O13F1_HUMAN olfactory receptor, family 13, subfamily F, member 1 52 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 31 ACCATTCTAGATTCCCACCTG 0.483000 12 104 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11098863 11098863 + RNA SNP A A G rs75318310 by1000genomes TCGA-CQ-A4C7-01A-11D-A25D-08 TCGA-CQ-A4C7-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a866f81-fa94-45e3-b14e-a2426986b9ef e4ac2486-26df-47bb-8d6e-37ad20ce7731 g.chr21:11098863A>G ENST00000470054.1 - 0 62 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) ccagcctccaactcccccttc 0.627000 3 24 0 0 1 0 0 CPNE3 8895 broad.mit.edu 37 8 87544758 87544758 + Missense_Mutation SNP G G T TCGA-CQ-A4C7-01A-11D-A25D-08 TCGA-CQ-A4C7-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a866f81-fa94-45e3-b14e-a2426986b9ef e4ac2486-26df-47bb-8d6e-37ad20ce7731 g.chr8:87544758G>T ENST00000521271.1 + 6 571 c.409G>T c.(409-411)Gat>Tat p.D137Y CPNE3_ENST00000198765.4_Missense_Mutation_p.D137Y NM_003909.3 NP_003900.1 O75131 CPNE3_HUMAN copine III 137 C2 2. lipid metabolic process|vesicle-mediated transport cytosol calcium-dependent phospholipid binding|protein serine/threonine kinase activity|transporter activity NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 23 AGAAATAAAAGATAATAGAGT 0.328000 8 142 0.00307968 0.003153 1 1 0 GIGYF1 64599 broad.mit.edu 37 7 100284282 100284282 + Silent SNP G G A TCGA-CQ-A4C7-01A-11D-A25D-08 TCGA-CQ-A4C7-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a866f81-fa94-45e3-b14e-a2426986b9ef e4ac2486-26df-47bb-8d6e-37ad20ce7731 g.chr7:100284282G>A ENST00000275732.5 - 7 1893 c.684C>T c.(682-684)tcC>tcT p.S228S GIGYF1_ENST00000471340.2_Intron NM_022574.4 NP_072096.2 O75420 PERQ1_HUMAN GRB10 interacting GYF protein 1 228 central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) CAGGGCTGGCGGAGCGCCAGC 0.697000 18 43 0 0 1 0 0 RCOR2 283248 broad.mit.edu 37 11 63679869 63679869 + Missense_Mutation SNP C C T TCGA-CQ-A4C7-01A-11D-A25D-08 TCGA-CQ-A4C7-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a866f81-fa94-45e3-b14e-a2426986b9ef e4ac2486-26df-47bb-8d6e-37ad20ce7731 g.chr11:63679869C>T ENST00000301459.4 - 11 1552 c.1165G>A c.(1165-1167)Gag>Aag p.E389K NM_173587.3 NP_775858.2 Q8IZ40 RCOR2_HUMAN REST corepressor 2 389 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 17 CCATCCTGCTCAGCCTCCCAT 0.597000 16 105 0 0 1 0 0 KCNA4 3739 broad.mit.edu 37 11 30032996 30032996 + Silent SNP G G C TCGA-CQ-A4C7-01A-11D-A25D-08 TCGA-CQ-A4C7-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a866f81-fa94-45e3-b14e-a2426986b9ef e4ac2486-26df-47bb-8d6e-37ad20ce7731 g.chr11:30032996G>C ENST00000328224.6 - 2 2463 c.1230C>G c.(1228-1230)gtC>gtG p.V410V NM_002233.3 NP_002224.1 P22459 KCNA4_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 4 410 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 GCAAAATGGAGACAATGTCAA 0.488000 5 65 0 0 1 0 0 ENAM 10117 broad.mit.edu 37 4 71508562 71508562 + Silent SNP G G A TCGA-CQ-A4C7-01A-11D-A25D-08 TCGA-CQ-A4C7-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a866f81-fa94-45e3-b14e-a2426986b9ef e4ac2486-26df-47bb-8d6e-37ad20ce7731 g.chr4:71508562G>A ENST00000396073.3 + 9 1700 c.1419G>A c.(1417-1419)ctG>ctA p.L473L ENAM_ENST00000472903.1_Intron NM_031889.2 NP_114095.2 Q9NRM1 ENAM_HUMAN enamelin 473 bone mineralization|odontogenesis proteinaceous extracellular matrix structural constituent of tooth enamel haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2) 6 Lung(101;0.235) ATTATAAACTGCCTCACTCTG 0.378000 8 13 0 0 1 0 0 POLM 27434 broad.mit.edu 37 7 44119175 44119175 + Missense_Mutation SNP C C T TCGA-CQ-A4C7-01A-11D-A25D-08 TCGA-CQ-A4C7-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a866f81-fa94-45e3-b14e-a2426986b9ef e4ac2486-26df-47bb-8d6e-37ad20ce7731 g.chr7:44119175C>T ENST00000242248.5 - 4 738 c.637G>A c.(637-639)Gtc>Atc p.V213I POLM_ENST00000335195.6_Missense_Mutation_p.V213I|POLM_ENST00000395831.3_Missense_Mutation_p.V213I NM_013284.2 NP_037416.1 Q9NP87 DPOLM_HUMAN polymerase (DNA directed), mu 213 DNA recombination|DNA repair nucleus DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2) 22 CCTACCTGGACAACCCTAGAG 0.637000 DNA polymerases (catalytic subunits) 5 46 0 0 1 0 0 ITPK1 3705 broad.mit.edu 37 14 93483111 93483111 + Silent SNP G G A TCGA-CQ-A4C7-01A-11D-A25D-08 TCGA-CQ-A4C7-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a866f81-fa94-45e3-b14e-a2426986b9ef e4ac2486-26df-47bb-8d6e-37ad20ce7731 g.chr14:93483111G>A ENST00000267615.6 - 4 329 c.156C>T c.(154-156)ccC>ccT p.P52P ITPK1_ENST00000555495.1_5'UTR|ITPK1_ENST00000556603.2_Silent_p.P52P|ITPK1_ENST00000354313.3_Silent_p.P52P|ITPK1_ENST00000556954.1_5'UTR Q13572 ITPK1_HUMAN inositol-tetrakisphosphate 1-kinase 52 blood coagulation|inositol trisphosphate metabolic process|signal transduction cytosol ATP binding|hydrolase activity|inositol tetrakisphosphate 1-kinase activity|inositol-1,3,4-trisphosphate 5/6-kinase activity|isomerase activity|ligase activity|magnesium ion binding endometrium(1)|large_intestine(3)|lung(6)|ovary(1) 11 all_cancers(154;0.077)|all_epithelial(191;0.247) Epithelial(152;0.124)|all cancers(159;0.169) TGACGTCCAGGGGGCCCTGCT 0.582000 10 54 0 0 1 0 0 COL11A1 1301 broad.mit.edu 37 1 103348754 103348754 + Splice_Site SNP C C G TCGA-CQ-A4C7-01A-11D-A25D-08 TCGA-CQ-A4C7-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a866f81-fa94-45e3-b14e-a2426986b9ef e4ac2486-26df-47bb-8d6e-37ad20ce7731 g.chr1:103348754C>G ENST00000358392.2 - 64 5325 c.e64+1 COL11A1_ENST00000512756.1_Splice_Site|COL11A1_ENST00000353414.4_Splice_Site|COL11A1_ENST00000370096.3_Splice_Site NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) TTGGTACTTACTCCCTCAGAT 0.363000 7 61 0 0 1 0 0 N4BP2 55728 broad.mit.edu 37 4 40122006 40122006 + Missense_Mutation SNP A A G TCGA-CQ-A4C7-01A-11D-A25D-08 TCGA-CQ-A4C7-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a866f81-fa94-45e3-b14e-a2426986b9ef e4ac2486-26df-47bb-8d6e-37ad20ce7731 g.chr4:40122006A>G ENST00000261435.6 + 9 2691 c.2275A>G c.(2275-2277)Aga>Gga p.R759G NM_018177.4 NP_060647.2 Q86UW6 N4BP2_HUMAN NEDD4 binding protein 2 759 cytoplasm ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 60 AGTGGAAGAAAGAGCAACAGT 0.378000 23 69 0 0 1 0 0 GRIN2A 2903 broad.mit.edu 37 16 9858783 9858783 + Missense_Mutation SNP C C T TCGA-CQ-A4C7-01A-11D-A25D-08 TCGA-CQ-A4C7-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a866f81-fa94-45e3-b14e-a2426986b9ef e4ac2486-26df-47bb-8d6e-37ad20ce7731 g.chr16:9858783C>T ENST00000396573.2 - 14 2927 c.2618G>A c.(2617-2619)gGa>gAa p.G873E GRIN2A_ENST00000330684.3_Missense_Mutation_p.G873E|GRIN2A_ENST00000404927.2_Missense_Mutation_p.G873E|GRIN2A_ENST00000535259.1_Missense_Mutation_p.G716E|GRIN2A_ENST00000562109.1_Missense_Mutation_p.G873E|GRIN2A_ENST00000396575.2_Missense_Mutation_p.G873E NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 873 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) AATGTGCACTCCATGAATGCA 0.468000 6 72 0 0 1 0 0 AMIGO2 347902 broad.mit.edu 37 12 47472100 47472100 + Missense_Mutation SNP G G A TCGA-CQ-A4C7-01A-11D-A25D-08 TCGA-CQ-A4C7-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a866f81-fa94-45e3-b14e-a2426986b9ef e4ac2486-26df-47bb-8d6e-37ad20ce7731 g.chr12:47472100G>A ENST00000266581.4 - 2 1152 c.686C>T c.(685-687)cCa>cTa p.P229L AMIGO2_ENST00000429635.1_Missense_Mutation_p.P229L|AMIGO2_ENST00000321382.3_Missense_Mutation_p.P229L|AMIGO2_ENST00000550413.1_Missense_Mutation_p.P229L NM_181847.4 NP_862830.1 Q86SJ2 AMGO2_HUMAN adhesion molecule with Ig-like domain 2 229 LRRCT. heterophilic cell-cell adhesion|homophilic cell adhesion integral to membrane|nucleus|plasma membrane endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Renal(347;0.138)|Lung SC(27;0.192) ACAGACAAATGGGTTTCCATG 0.428000 10 34 0 0 1 0 0 KIF26B 55083 broad.mit.edu 37 1 245850065 245850065 + Silent SNP G G A TCGA-CQ-A4C7-01A-11D-A25D-08 TCGA-CQ-A4C7-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a866f81-fa94-45e3-b14e-a2426986b9ef e4ac2486-26df-47bb-8d6e-37ad20ce7731 g.chr1:245850065G>A ENST00000366518.4 + 9 2741 c.2637G>A c.(2635-2637)ccG>ccA p.P879P KIF26B_ENST00000407071.2_Silent_p.P1260P Q2KJY2 KI26B_HUMAN kinesin family member 26B 1260 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127) OV - Ovarian serous cystadenocarcinoma(106;0.022) TGCCCCTCCCGAAGATGAGCC 0.632000 3 19 0 0 1 0 0 ANKAR 150709 broad.mit.edu 37 2 190584435 190584435 + Missense_Mutation SNP C C G TCGA-CQ-A4C7-01A-11D-A25D-08 TCGA-CQ-A4C7-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a866f81-fa94-45e3-b14e-a2426986b9ef e4ac2486-26df-47bb-8d6e-37ad20ce7731 g.chr2:190584435C>G ENST00000520309.1 + 11 2450 c.2362C>G c.(2362-2364)Cta>Gta p.L788V ANKAR_ENST00000438402.2_Missense_Mutation_p.L788V|ANKAR_ENST00000431575.2_Missense_Mutation_p.L717V|ANKAR_ENST00000313581.4_Missense_Mutation_p.L788V|ANKAR_ENST00000281412.6_Missense_Mutation_p.L552V NM_144708.3 NP_653309.3 Q7Z5J8 ANKAR_HUMAN ankyrin and armadillo repeat containing 788 integral to membrane binding breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2) 46 OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744) CATTCCATCTCTAATCAACCT 0.408000 4 29 0 0 1 0 0 COL9A1 1297 broad.mit.edu 37 6 70935688 70935688 + Missense_Mutation SNP C C T TCGA-CQ-A4C7-01A-11D-A25D-08 TCGA-CQ-A4C7-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a866f81-fa94-45e3-b14e-a2426986b9ef e4ac2486-26df-47bb-8d6e-37ad20ce7731 g.chr6:70935688C>T ENST00000357250.6 - 37 2686 c.2528G>A c.(2527-2529)cGt>cAt p.R843H COL9A1_ENST00000370499.4_Missense_Mutation_p.R600H|COL9A1_ENST00000320755.7_Missense_Mutation_p.R600H|RP1-149L1.1_ENST00000522264.1_RNA|COL9A1_ENST00000489611.1_5'UTR NM_001851.4 NP_001842.3 P20849 CO9A1_HUMAN collagen, type IX, alpha 1 843 Triple-helical region (COL1). axon guidance|cell adhesion|organ morphogenesis collagen type IX metal ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4) 80 TGGAGGGCCACGCTCCCCCTT 0.438000 9 38 0 0 1 0 0 PRR14 78994 broad.mit.edu 37 16 30666196 30666196 + Missense_Mutation SNP C C T TCGA-CQ-A4C7-01A-11D-A25D-08 TCGA-CQ-A4C7-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a866f81-fa94-45e3-b14e-a2426986b9ef e4ac2486-26df-47bb-8d6e-37ad20ce7731 g.chr16:30666196C>T ENST00000542965.2 + 7 1361 c.905C>T c.(904-906)tCt>tTt p.S302F PRR14_ENST00000571654.1_3'UTR|PRR14_ENST00000300835.4_Missense_Mutation_p.S302F Q9BWN1 PRR14_HUMAN proline rich 14 302 Pro-rich. breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1) 18 Colorectal(24;0.103) GGCACTGCGTCTGTCAGCCCC 0.642000 4 39 0 0 1 0 0 TTC17 55761 broad.mit.edu 37 11 43380578 43380578 + Missense_Mutation SNP T T C TCGA-CQ-A4C7-01A-11D-A25D-08 TCGA-CQ-A4C7-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a866f81-fa94-45e3-b14e-a2426986b9ef e4ac2486-26df-47bb-8d6e-37ad20ce7731 g.chr11:43380578T>C ENST00000039989.4 + 1 88 c.74T>C c.(73-75)cTt>cCt p.L25P RP11-484D2.2_ENST00000526220.1_RNA|TTC17_ENST00000299240.6_Missense_Mutation_p.L25P NM_018259.5 NP_060729.2 Q96AE7 TTC17_HUMAN tetratricopeptide repeat domain 17 25 binding breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3) 53 CTCCTCAGCCTTTCCGCCTTG 0.716000 4 16 0 0 1 0 0 TSLP 85480 broad.mit.edu 37 5 110409293 110409293 + Missense_Mutation SNP A A G TCGA-CQ-A4C7-01A-11D-A25D-08 TCGA-CQ-A4C7-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a866f81-fa94-45e3-b14e-a2426986b9ef e4ac2486-26df-47bb-8d6e-37ad20ce7731 g.chr5:110409293A>G ENST00000420978.2 + 4 1723 c.301A>G c.(301-303)Aaa>Gaa p.K101E TSLP_ENST00000344895.3_Missense_Mutation_p.K101E|TSLP_ENST00000379706.4_Missense_Mutation_p.K5E Q969D9 TSLP_HUMAN thymic stromal lymphopoietin 101 extracellular space cytokine activity breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1) 11 all_cancers(142;2.72e-05)|all_epithelial(76;4.39e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0417)|Ovarian(225;0.0443)|Colorectal(57;0.0464)|all_lung(232;0.0507)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;1.24e-08)|Epithelial(69;1.54e-07)|all cancers(49;1.73e-05)|COAD - Colon adenocarcinoma(37;0.109) GTTCGCCATGAAAACTAAGGC 0.537000 11 110 0 0 1 0 0 SH3KBP1 30011 broad.mit.edu 37 X 19587305 19587305 + Splice_Site SNP C C T TCGA-CQ-A4C7-01A-11D-A25D-08 TCGA-CQ-A4C7-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a866f81-fa94-45e3-b14e-a2426986b9ef e4ac2486-26df-47bb-8d6e-37ad20ce7731 g.chrX:19587305C>T ENST00000397821.3 - 13 1590 c.1298_splice c.e13-1 p.G434_splice SH3KBP1_ENST00000541422.1_Splice_Site_p.G173_splice|SH3KBP1_ENST00000379698.4_Splice_Site_p.G397_splice|SH3KBP1_ENST00000379716.1_Splice_Site_p.G196_splice NM_031892.2 NP_114098.1 Q96B97 SH3K1_HUMAN SH3-domain kinase binding protein 1 434 apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome SH3 domain binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4) 29 GGACTGTCACCCCTACATTAA 0.473000 6 37 0 0 1 0 0 SF3A3 10946 broad.mit.edu 37 1 38455601 38455601 + Nonsense_Mutation SNP C C A TCGA-CQ-A4C7-01A-11D-A25D-08 TCGA-CQ-A4C7-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a866f81-fa94-45e3-b14e-a2426986b9ef e4ac2486-26df-47bb-8d6e-37ad20ce7731 g.chr1:38455601C>A ENST00000373019.4 - 1 992 c.37G>T c.(37-39)Gag>Tag p.E13* SF3A3_ENST00000448721.2_Nonsense_Mutation_p.E13* NM_006802.2 NP_006793.1 Q12874 SF3A3_HUMAN splicing factor 3a, subunit 3, 60kDa 13 nuclear mRNA 3'-splice site recognition catalytic step 2 spliceosome|nuclear speck nucleic acid binding|protein binding|zinc ion binding breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|prostate(2) 12 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) TCCTTCTCCTCATGATAGCGC 0.592000 OREG0013386 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 86 0.000602214 0.000639388 1 1 0 RPL5 6125 broad.mit.edu 37 1 93301776 93301776 + Silent SNP C C T TCGA-CQ-A4C7-01A-11D-A25D-08 TCGA-CQ-A4C7-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a866f81-fa94-45e3-b14e-a2426986b9ef e4ac2486-26df-47bb-8d6e-37ad20ce7731 g.chr1:93301776C>T ENST00000370321.3 + 5 444 c.354C>T c.(352-354)atC>atT p.I118I NM_000969.3 NP_000960.2 P46777 RL5_HUMAN ribosomal protein L5 118 endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleolus 5S rRNA binding|protein binding|structural constituent of ribosome endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 9 all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203) GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927) TGGACAAGATCTATGAAGGCC 0.413000 6 104 0 0 1 0 0 ZNF91 7644 broad.mit.edu 37 19 23543067 23543067 + Missense_Mutation SNP G G C TCGA-CQ-A4C7-01A-11D-A25D-08 TCGA-CQ-A4C7-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a866f81-fa94-45e3-b14e-a2426986b9ef e4ac2486-26df-47bb-8d6e-37ad20ce7731 g.chr19:23543067G>C ENST00000300619.7 - 4 2919 c.2714C>G c.(2713-2715)aCc>aGc p.T905S ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.T873S NM_003430.2 NP_003421.2 Q05481 ZNF91_HUMAN zinc finger protein 91 905 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) TTTCTCTCTGGTATGAATTCT 0.393000 4 30 0 0 1 0 0 ABCA2 20 broad.mit.edu 37 9 139910307 139910307 + Missense_Mutation SNP C C G TCGA-CQ-A4C7-01A-11D-A25D-08 TCGA-CQ-A4C7-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a866f81-fa94-45e3-b14e-a2426986b9ef e4ac2486-26df-47bb-8d6e-37ad20ce7731 g.chr9:139910307C>G ENST00000265662.5 - 23 3481 c.3334G>C c.(3334-3336)Gag>Cag p.E1112Q ABCA2_ENST00000341511.6_Missense_Mutation_p.E1112Q|ABCA2_ENST00000371605.3_Missense_Mutation_p.E1111Q Q9BZC7 ABCA2_HUMAN ATP-binding cassette, sub-family A (ABC1), member 2 1111 ABC transporter 1. cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center ATP binding|ATPase activity, coupled to transmembrane movement of substances central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 41 all_cancers(76;0.16) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) TTGGAGAGCTCCAGGTCCTCG 0.682000 4 61 0 0 1 0 0 PHF20L1 51105 broad.mit.edu 37 8 133829644 133829644 + Missense_Mutation SNP G G C TCGA-CQ-A4C7-01A-11D-A25D-08 TCGA-CQ-A4C7-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a866f81-fa94-45e3-b14e-a2426986b9ef e4ac2486-26df-47bb-8d6e-37ad20ce7731 g.chr8:133829644G>C ENST00000395386.2 + 12 1732 c.1433G>C c.(1432-1434)aGt>aCt p.S478T PHF20L1_ENST00000395390.2_Missense_Mutation_p.S453T|PHF20L1_ENST00000220847.7_5'UTR|PHF20L1_ENST00000395382.3_Missense_Mutation_p.S348T|PHF20L1_ENST00000395383.1_Missense_Mutation_p.S482T|PHF20L1_ENST00000315808.10_Missense_Mutation_p.S478T NM_016018.4 NP_057102.4 A8MW92 P20L1_HUMAN PHD finger protein 20-like 1 478 nucleic acid binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2) 15 all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;4.46e-05) CTTGACTTAAGTCGTGGTTCA 0.438000 5 64 0 0 1 0 0 STXBP1 6812 broad.mit.edu 37 9 130432187 130432187 + Missense_Mutation SNP C C T TCGA-CQ-A4C7-01A-11D-A25D-08 TCGA-CQ-A4C7-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a866f81-fa94-45e3-b14e-a2426986b9ef e4ac2486-26df-47bb-8d6e-37ad20ce7731 g.chr9:130432187C>T ENST00000373302.3 + 11 1052 c.913C>T c.(913-915)Cgg>Tgg p.R305W STXBP1_ENST00000373299.1_Missense_Mutation_p.R305W NM_003165.3 NP_003156.1 P61764 STXB1_HUMAN syntaxin binding protein 1 305 axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex identical protein binding|syntaxin-1 binding|syntaxin-2 binding breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2) 23 GGAAGTCACCCGGTCTCTGAA 0.438000 23 132 0 0 1 0 0 BOD1L1 259282 broad.mit.edu 37 4 13600870 13600870 + Missense_Mutation SNP G G A TCGA-CQ-A4C7-01A-11D-A25D-08 TCGA-CQ-A4C7-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a866f81-fa94-45e3-b14e-a2426986b9ef e4ac2486-26df-47bb-8d6e-37ad20ce7731 g.chr4:13600870G>A ENST00000040738.5 - 10 7789 c.7654C>T c.(7654-7656)Ctt>Ttt p.L2552F NM_148894.2 NP_683692.2 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 1-like 1 2552 DNA binding TCAGCAGGAAGAAAGGAATGC 0.473000 OREG0016115 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 20 0 0 1 0 0 WNK3 65267 broad.mit.edu 37 X 54359869 54359869 + Missense_Mutation SNP T T C TCGA-CQ-A4C7-01A-11D-A25D-08 TCGA-CQ-A4C7-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a866f81-fa94-45e3-b14e-a2426986b9ef e4ac2486-26df-47bb-8d6e-37ad20ce7731 g.chrX:54359869T>C ENST00000354646.2 - 2 676 c.238A>G c.(238-240)Aga>Gga p.R80G WNK3_ENST00000375169.3_Missense_Mutation_p.R80G|WNK3_ENST00000375159.2_Missense_Mutation_p.R80G NM_020922.4 NP_065973.2 Q9BYP7 WNK3_HUMAN WNK lysine deficient protein kinase 3 80 intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation adherens junction|tight junction ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 GCCTTAATTCTCTCATCTTTG 0.398000 7 38 0 0 1 0 0 SLC30A2 7780 broad.mit.edu 37 1 26369045 26369045 + Missense_Mutation SNP A A C TCGA-CQ-A4C7-01A-11D-A25D-08 TCGA-CQ-A4C7-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a866f81-fa94-45e3-b14e-a2426986b9ef e4ac2486-26df-47bb-8d6e-37ad20ce7731 g.chr1:26369045A>C ENST00000374278.3 - 4 796 c.580T>G c.(580-582)Ttc>Gtc p.F194V SLC30A2_ENST00000374276.3_Missense_Mutation_p.F243V NM_032513.3 NP_115902.1 Q9BRI3 ZNT2_HUMAN solute carrier family 30 (zinc transporter), member 2 194 positive regulation of sequestering of zinc ion|zinc ion transport integral to membrane|late endosome|lysosomal membrane cation transmembrane transporter activity cervix(1)|endometrium(2)|kidney(1)|lung(8)|stomach(1) 13 Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.09e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00614)|READ - Rectum adenocarcinoma(331;0.0649) CTGACCTTGAAGTATAAAATA 0.547000 8 89 0 0 1 0 0 ZNF761 388561 broad.mit.edu 37 19 53958230 53958230 + RNA SNP G G A TCGA-CQ-A4C7-01A-11D-A25D-08 TCGA-CQ-A4C7-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a866f81-fa94-45e3-b14e-a2426986b9ef e4ac2486-26df-47bb-8d6e-37ad20ce7731 g.chr19:53958230G>A ENST00000454407.1 + 0 922 Q86XN6 ZN761_HUMAN zinc finger protein 761 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 30 GBM - Glioblastoma multiforme(134;0.00786) ATTTCAGACCGAAGAGAAAAT 0.388000 7 87 0 0 1 0 0 CHRNA1 1134 broad.mit.edu 37 2 175614731 175614731 + Silent SNP G G T TCGA-CQ-A4C7-01A-11D-A25D-08 TCGA-CQ-A4C7-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a866f81-fa94-45e3-b14e-a2426986b9ef e4ac2486-26df-47bb-8d6e-37ad20ce7731 g.chr2:175614731G>T ENST00000348749.5 - 7 1022 c.945C>A c.(943-945)gtC>gtA p.V315V AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000409542.1_Silent_p.V233V|CHRNA1_ENST00000409219.1_Silent_p.V315V|CHRNA1_ENST00000261007.5_Silent_p.V340V NM_000079.3 NP_000070.1 P02708 ACHA_HUMAN cholinergic receptor, nicotinic, alpha 1 (muscle) 340 muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4) 37 GTGTGTTGATGACGATGACAG 0.557000 20 35 2.21704e-12 2.47617e-12 1 1 0 LAMA3 3909 broad.mit.edu 37 18 21511041 21511041 + Missense_Mutation SNP G G A TCGA-CQ-A4C7-01A-11D-A25D-08 TCGA-CQ-A4C7-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a866f81-fa94-45e3-b14e-a2426986b9ef e4ac2486-26df-47bb-8d6e-37ad20ce7731 g.chr18:21511041G>A ENST00000313654.9 + 65 8693 c.8452G>A c.(8452-8454)Gtc>Atc p.V2818I LAMA3_ENST00000269217.6_Missense_Mutation_p.V1209I|LAMA3_ENST00000399516.3_Missense_Mutation_p.V2762I|LAMA3_ENST00000587184.1_Missense_Mutation_p.V1153I|LAMA3_ENST00000588770.1_3'UTR NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 2818 Laminin G-like 3. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GAACCTGCAGGTCACTCTGGA 0.388000 33 66 0 0 1 0 0 DCLRE1C 64421 broad.mit.edu 37 10 14950607 14950607 + Missense_Mutation SNP C C T TCGA-CQ-A4C7-01A-11D-A25D-08 TCGA-CQ-A4C7-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a866f81-fa94-45e3-b14e-a2426986b9ef e4ac2486-26df-47bb-8d6e-37ad20ce7731 g.chr10:14950607C>T ENST00000453695.2 - 14 1963 c.1519G>A c.(1519-1521)Gag>Aag p.E507K DCLRE1C_ENST00000357717.2_Missense_Mutation_p.E512K|DCLRE1C_ENST00000378249.1_Missense_Mutation_p.E512K|DCLRE1C_ENST00000378254.1_Missense_Mutation_p.E507K|DCLRE1C_ENST00000378255.1_Missense_Mutation_p.E507K|DCLRE1C_ENST00000396817.2_Missense_Mutation_p.E507K|DCLRE1C_ENST00000378242.1_Missense_Mutation_p.E280K|DCLRE1C_ENST00000378289.4_Intron|DCLRE1C_ENST00000378246.2_Missense_Mutation_p.E512K|DCLRE1C_ENST00000378258.1_Missense_Mutation_p.E507K|DCLRE1C_ENST00000378278.2_Missense_Mutation_p.E627K NM_001033855.1 NP_001029027.1 Q96SD1 DCR1C_HUMAN DNA cross-link repair 1C 627 DNA recombination nucleus 5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity p.E627K(1)|p.E512K(1) breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1) 17 ATATGTGTCTCACTGCTTAGA 0.388000 Non-homologous end-joining 14 64 0 0 1 0 0 CTNNA3 29119 broad.mit.edu 37 10 67862978 67862978 + Missense_Mutation SNP G G T TCGA-CQ-A4C7-01A-11D-A25D-08 TCGA-CQ-A4C7-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a866f81-fa94-45e3-b14e-a2426986b9ef e4ac2486-26df-47bb-8d6e-37ad20ce7731 g.chr10:67862978G>T ENST00000433211.1 - 14 2088 c.1914C>A c.(1912-1914)gaC>gaA p.D638E CTNNA3_ENST00000373744.4_Missense_Mutation_p.D638E NM_013266.2 NP_037398.2 Q9UI47 CTNA3_HUMAN catenin (cadherin-associated protein), alpha 3 638 cell-cell adhesion actin cytoskeleton|cytoplasm|fascia adherens cadherin binding|structural molecule activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1) 95 CCTCTTCAAGGTCAGAAACAT 0.458000 10 39 1.58986e-06 1.73074e-06 1 1 0 NLRP5 126206 broad.mit.edu 37 19 56538774 56538774 + Missense_Mutation SNP G G A TCGA-CQ-A4C7-01A-11D-A25D-08 TCGA-CQ-A4C7-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a866f81-fa94-45e3-b14e-a2426986b9ef e4ac2486-26df-47bb-8d6e-37ad20ce7731 g.chr19:56538774G>A ENST00000390649.3 + 7 1175 c.1175G>A c.(1174-1176)cGc>cAc p.R392H NM_153447.4 NP_703148.4 P59047 NALP5_HUMAN NLR family, pyrin domain containing 5 392 NACHT. mitochondrion|nucleolus ATP binding p.R392H(2) breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) ACCCTCATACGCAGTCTGCTG 0.552000 5 18 0 0 1 0 0 UNC45B 146862 broad.mit.edu 37 17 33475352 33475352 + Missense_Mutation SNP G G T TCGA-CQ-A4C7-01A-11D-A25D-08 TCGA-CQ-A4C7-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a866f81-fa94-45e3-b14e-a2426986b9ef e4ac2486-26df-47bb-8d6e-37ad20ce7731 g.chr17:33475352G>T ENST00000268876.5 + 2 167 c.70G>T c.(70-72)Gcc>Tcc p.A24S UNC45B_ENST00000378449.1_Missense_Mutation_p.A24S|UNC45B_ENST00000433649.1_Missense_Mutation_p.A24S|UNC45B_ENST00000394570.2_Missense_Mutation_p.A24S|UNC45B_ENST00000591048.1_Missense_Mutation_p.A24S NM_173167.2 NP_775259.1 Q8IWX7 UN45B_HUMAN unc-45 homolog B (C. elegans) 24 cell differentiation|muscle organ development cytosol binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3) 59 Ovarian(249;0.17) GGACTACAAGGCCGCCACAAA 0.587000 25 50 1.75199e-13 1.98251e-13 1 1 0 DRAP1 10589 broad.mit.edu 37 11 65687307 65687307 + Silent SNP G G A TCGA-CQ-A4C7-01A-11D-A25D-08 TCGA-CQ-A4C7-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a866f81-fa94-45e3-b14e-a2426986b9ef e4ac2486-26df-47bb-8d6e-37ad20ce7731 g.chr11:65687307G>A ENST00000312515.2 + 2 344 c.99G>A c.(97-99)gcG>gcA p.A33A DRAP1_ENST00000532933.1_Silent_p.A13A|DRAP1_ENST00000527119.1_Intron|DRAP1_ENST00000376991.2_Silent_p.A33A NM_006442.3 NP_006433.2 Q14919 NC2A_HUMAN DR1-associated protein 1 (negative cofactor 2 alpha) 33 Histone-fold. negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(1) 5 READ - Rectum adenocarcinoma(159;0.166) TGGCGGCGGCGGTGCCTGTCA 0.687000 4 52 0 0 1 0 0 CASZ1 54897 broad.mit.edu 37 1 10725221 10725221 + Missense_Mutation SNP C C T TCGA-CQ-A4C7-01A-11D-A25D-08 TCGA-CQ-A4C7-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a866f81-fa94-45e3-b14e-a2426986b9ef e4ac2486-26df-47bb-8d6e-37ad20ce7731 g.chr1:10725221C>T ENST00000377022.3 - 5 741 c.424G>A c.(424-426)Gac>Aac p.D142N CASZ1_ENST00000344008.5_Missense_Mutation_p.D142N|CASZ1_ENST00000478728.2_5'UTR NM_001079843.1 NP_001073312.1 Q86V15 CASZ1_HUMAN castor zinc finger 1 142 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1) 54 Ovarian(185;0.203)|all_lung(157;0.204) Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623) GCACCGCCGTCCTTGGAGGGC 0.687000 7 28 0 0 1 0 0 PTPRZ1 5803 broad.mit.edu 37 7 121612604 121612604 + Missense_Mutation SNP A A G TCGA-CQ-A4C7-01A-11D-A25D-08 TCGA-CQ-A4C7-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a866f81-fa94-45e3-b14e-a2426986b9ef e4ac2486-26df-47bb-8d6e-37ad20ce7731 g.chr7:121612604A>G ENST00000393386.2 + 4 725 c.314A>G c.(313-315)aAt>aGt p.N105S PTPRZ1_ENST00000449182.1_Missense_Mutation_p.N105S NM_001206838.1|NM_002851.2 NP_001193767.1|NP_002842.2 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, Z polypeptide 1 105 Alpha-carbonic anhydrase. central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 106 GTGGAAATTAATCTCACTAAT 0.318000 7 29 0 0 1 0 0 ZBTB49 166793 broad.mit.edu 37 4 4322518 4322518 + Missense_Mutation SNP G G T TCGA-CQ-A4C7-01A-11D-A25D-08 TCGA-CQ-A4C7-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a866f81-fa94-45e3-b14e-a2426986b9ef e4ac2486-26df-47bb-8d6e-37ad20ce7731 g.chr4:4322518G>T ENST00000337872.4 + 8 1894 c.1773G>T c.(1771-1773)gaG>gaT p.E591D ZBTB49_ENST00000538529.1_Missense_Mutation_p.E74D|ZBTB49_ENST00000355834.3_Missense_Mutation_p.E469D NM_145291.3 NP_660334.3 Q6ZSB9 ZBT49_HUMAN zinc finger and BTB domain containing 49 591 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 28 CTGGTGACGAGAGCCCAGATG 0.567000 6 35 0.0293803 0.029726 1 1 0 CCDC77 84318 broad.mit.edu 37 12 550057 550057 + Silent SNP C C T TCGA-CQ-A4C7-01A-11D-A25D-08 TCGA-CQ-A4C7-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a866f81-fa94-45e3-b14e-a2426986b9ef e4ac2486-26df-47bb-8d6e-37ad20ce7731 g.chr12:550057C>T ENST00000239830.4 + 12 1394 c.1215C>T c.(1213-1215)cgC>cgT p.R405R CCDC77_ENST00000412006.2_Silent_p.R373R|CCDC77_ENST00000422000.1_Silent_p.R373R|CCDC77_ENST00000540180.1_Silent_p.R373R NM_032358.3 NP_115734.1 Q9BR77 CCD77_HUMAN coiled-coil domain containing 77 405 centrosome cervix(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1) 19 all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156) OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033) TGACAAAACGCTATGAGGCAT 0.448000 5 39 0 0 1 0 0 RNF113B 140432 broad.mit.edu 37 13 98828923 98828923 + Missense_Mutation SNP C C T TCGA-CQ-A4C7-01A-11D-A25D-08 TCGA-CQ-A4C7-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a866f81-fa94-45e3-b14e-a2426986b9ef e4ac2486-26df-47bb-8d6e-37ad20ce7731 g.chr13:98828923C>T ENST00000267291.6 - 1 596 c.568G>A c.(568-570)Gat>Aat p.D190N FARP1_ENST00000376586.2_Intron|FARP1_ENST00000595437.1_Intron|FARP1_ENST00000319562.6_Intron|FARP1_ENST00000376581.5_Intron NM_178861.4 NP_849192.1 Q8IZP6 R113B_HUMAN ring finger protein 113B 190 nucleic acid binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.13) GGCTGGTAATCCCAGCGCACA 0.612000 12 51 0 0 1 0 0 LYPD6B 130576 broad.mit.edu 37 2 150061851 150061851 + Silent SNP T T C TCGA-CQ-A4C7-01A-11D-A25D-08 TCGA-CQ-A4C7-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a866f81-fa94-45e3-b14e-a2426986b9ef e4ac2486-26df-47bb-8d6e-37ad20ce7731 g.chr2:150061851T>C ENST00000409642.3 + 4 563 c.162T>C c.(160-162)gtT>gtC p.V54V LYPD6B_ENST00000498249.1_3'UTR|LYPD6B_ENST00000280115.7_Silent_p.V54V|LYPD6B_ENST00000409876.1_Silent_p.V30V|LYPD6B_ENST00000409029.1_Silent_p.V30V NM_177964.3 NP_808879.2 Q8NI32 LPD6B_HUMAN LY6/PLAUR domain containing 6B 30 anchored to membrane|plasma membrane endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 11 TCCAGATCGTTATCTTCTCAG 0.488000 20 140 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577025 7577025 + Nonsense_Mutation SNP T T A TCGA-CQ-A4C7-01A-11D-A25D-08 TCGA-CQ-A4C7-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a866f81-fa94-45e3-b14e-a2426986b9ef e4ac2486-26df-47bb-8d6e-37ad20ce7731 g.chr17:7577025T>A ENST00000420246.2 - 8 1045 c.913A>T c.(913-915)Aag>Tag p.K305* TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Nonsense_Mutation_p.K305*|TP53_ENST00000359597.4_Nonsense_Mutation_p.K305*|TP53_ENST00000445888.2_Nonsense_Mutation_p.K305*|TP53_ENST00000269305.4_Nonsense_Mutation_p.K305* NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 305 Interaction with CARM1.|Interaction with HIPK1 (By similarity). K -> E (in a sporadic cancer; somatic mutation).|K -> M (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation; loss of nuclear localization).|K -> R (in sporadic cancers; somatic mutation).|K -> T (in a sporadic cancer; 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.K305*(19)|p.0?(8)|p.?(3)|p.L265_K305del41(1)|p.K305E(1)|p.K305fs*32(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) TTACCTCGCTTAGTGCTCCCT 0.562000 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) 33 34 0 0 1 0 0 SEMA5B 54437 broad.mit.edu 37 3 122634290 122634290 + Missense_Mutation SNP G G A TCGA-CQ-A4C7-01A-11D-A25D-08 TCGA-CQ-A4C7-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a866f81-fa94-45e3-b14e-a2426986b9ef e4ac2486-26df-47bb-8d6e-37ad20ce7731 g.chr3:122634290G>A ENST00000195173.4 - 14 2288 c.1985C>T c.(1984-1986)tCc>tTc p.S662F SEMA5B_ENST00000451055.2_Missense_Mutation_p.S716F|SEMA5B_ENST00000357599.3_Missense_Mutation_p.S662F Q9P283 SEM5B_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B 662 cell differentiation|nervous system development integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3) 55 GBM - Glioblastoma multiforme(114;0.0367) CACATACCTGGAGCAGTTGGC 0.602000 20 41 0 0 1 0 0 ZNF33A 7581 broad.mit.edu 37 10 38306271 38306271 + Silent SNP G G A TCGA-CQ-A4C7-01A-11D-A25D-08 TCGA-CQ-A4C7-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a866f81-fa94-45e3-b14e-a2426986b9ef e4ac2486-26df-47bb-8d6e-37ad20ce7731 g.chr10:38306271G>A ENST00000374618.3 + 4 385 c.207G>A c.(205-207)gaG>gaA p.E69E ZNF33A_ENST00000458705.2_Silent_p.E69E|ZNF33A_ENST00000476504.1_3'UTR|ZNF33A_ENST00000469037.2_Silent_p.E69E|ZNF33A_ENST00000307441.9_Silent_p.E69E|ZNF33A_ENST00000432900.2_Silent_p.E76E NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2 NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1 Q06730 ZN33A_HUMAN zinc finger protein 33A 69 KRAB. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2) 46 AAGGAGAAGAGCCATGGAAAC 0.433000 5 66 0 0 1 0 0 ZNF417 147687 broad.mit.edu 37 19 58420104 58420104 + Silent SNP A A G TCGA-CQ-A4C7-01A-11D-A25D-08 TCGA-CQ-A4C7-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a866f81-fa94-45e3-b14e-a2426986b9ef e4ac2486-26df-47bb-8d6e-37ad20ce7731 g.chr19:58420104A>G ENST00000312026.5 - 3 1706 c.1542T>C c.(1540-1542)caT>caC p.H514H CTD-2583A14.9_ENST00000602124.1_Intron|ZNF417_ENST00000536263.1_Silent_p.H315H|ZNF417_ENST00000595559.1_Silent_p.H513H NM_152475.2 NP_689688.2 Q8TAU3 ZN417_HUMAN zinc finger protein 417 514 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1) 18 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;0.0151) TTTGTCCAGAATGAACTCTTT 0.408000 19 68 0 0 1 0 0 FBLN5 10516 broad.mit.edu 37 14 92353600 92353600 + Missense_Mutation SNP C C T TCGA-CQ-A4C7-01A-11D-A25D-08 TCGA-CQ-A4C7-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a866f81-fa94-45e3-b14e-a2426986b9ef e4ac2486-26df-47bb-8d6e-37ad20ce7731 g.chr14:92353600C>T ENST00000267620.10 - 8 968 c.799G>A c.(799-801)Ggc>Agc p.G267S FBLN5_ENST00000556154.1_Missense_Mutation_p.G231S|FBLN5_ENST00000342058.4_Missense_Mutation_p.G226S Q9UBX5 FBLN5_HUMAN fibulin 5 226 EGF-like 5; calcium-binding (Potential). cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals extracellular space|proteinaceous extracellular matrix|soluble fraction calcium ion binding|integrin binding|protein C-terminus binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 28 all_cancers(154;0.0722) ATGAAAGAGCCGTAGGTGTTG 0.522000 21 132 0 0 1 0 0 CLEC14A 161198 broad.mit.edu 37 14 38724551 38724551 + Missense_Mutation SNP C C A TCGA-CQ-A4C7-01A-11D-A25D-08 TCGA-CQ-A4C7-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a866f81-fa94-45e3-b14e-a2426986b9ef e4ac2486-26df-47bb-8d6e-37ad20ce7731 g.chr14:38724551C>A ENST00000342213.2 - 1 1023 c.677G>T c.(676-678)tGc>tTc p.C226F NM_175060.2 NP_778230.1 Q86T13 CLC14_HUMAN C-type lectin domain family 14, member A 226 integral to membrane sugar binding breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00439) GTCCGCGATGCAAGTAACTGA 0.652000 35 117 6.53348e-20 7.49172e-20 1 1 0 EPRS 2058 broad.mit.edu 37 1 220170347 220170347 + Missense_Mutation SNP A A C TCGA-CQ-A4C7-01A-11D-A25D-08 TCGA-CQ-A4C7-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a866f81-fa94-45e3-b14e-a2426986b9ef e4ac2486-26df-47bb-8d6e-37ad20ce7731 g.chr1:220170347A>C ENST00000366923.3 - 18 2788 c.2519T>G c.(2518-2520)cTa>cGa p.L840R NM_004446.2 NP_004437.2 P07814 SYEP_HUMAN glutamyl-prolyl-tRNA synthetase 840 3 X 57 AA approximate repeats.|WHEP-TRS 2. glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly cytosol|soluble fraction ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3) 63 GBM - Glioblastoma multiforme(131;0.0735) L-Glutamic Acid(DB00142)|L-Proline(DB00172) TTCAGCTTTTAGCTTACGAAC 0.378000 11 89 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56495095 56495095 + Missense_Mutation SNP T T G TCGA-CQ-A4C7-01A-11D-A25D-08 TCGA-CQ-A4C7-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a866f81-fa94-45e3-b14e-a2426986b9ef e4ac2486-26df-47bb-8d6e-37ad20ce7731 g.chr6:56495095T>G ENST00000370754.5 - 30 4129 c.4130A>C c.(4129-4131)gAa>gCa p.E1377A DST_ENST00000370765.6_Missense_Mutation_p.E873A|DST_ENST00000370788.2_Missense_Mutation_p.E1199A|DST_ENST00000361203.3_Missense_Mutation_p.E1199A|DST_ENST00000370769.4_Missense_Mutation_p.E1199A|DST_ENST00000518935.1_Missense_Mutation_p.E873A|DST_ENST00000446842.2_Missense_Mutation_p.E873A|DST_ENST00000421834.2_Missense_Mutation_p.E1199A|DST_ENST00000244364.6_Missense_Mutation_p.E873A|DST_ENST00000312431.6_Missense_Mutation_p.E1199A Q03001 DYST_HUMAN dystonin 1199 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) TATAACTGCTTCTTCTTCACA 0.308000 12 35 0 0 1 0 0 DNMT3L 29947 broad.mit.edu 37 21 45680690 45680690 + Nonsense_Mutation SNP G G A TCGA-CQ-A4C7-01A-11D-A25D-08 TCGA-CQ-A4C7-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a866f81-fa94-45e3-b14e-a2426986b9ef e4ac2486-26df-47bb-8d6e-37ad20ce7731 g.chr21:45680690G>A ENST00000270172.3 - 3 622 c.139C>T c.(139-141)Cga>Tga p.R47* DNMT3L_ENST00000418993.1_Nonsense_Mutation_p.R47* NM_013369.3 NP_037501.2 Q9UJW3 DNM3L_HUMAN DNA (cytosine-5-)-methyltransferase 3-like 47 ADD. DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis cytosol enzyme activator activity|enzyme binding|metal ion binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3) 11 Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781) TCTATATTTCGCTGGTTAGCC 0.448000 12 77 0 0 1 0 0 ALS2 57679 broad.mit.edu 37 2 202588135 202588135 + Missense_Mutation SNP T T C TCGA-CQ-A4C7-01A-11D-A25D-08 TCGA-CQ-A4C7-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a866f81-fa94-45e3-b14e-a2426986b9ef e4ac2486-26df-47bb-8d6e-37ad20ce7731 g.chr2:202588135T>C ENST00000264276.6 - 22 3914 c.3542A>G c.(3541-3543)gAt>gGt p.D1181G ALS2_ENST00000457679.2_Missense_Mutation_p.D493G NM_020919.3 NP_065970.2 Q96Q42 ALS2_HUMAN amyotrophic lateral sclerosis 2 (juvenile) 1181 cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 72 ACACACATCATCTTGCCACAT 0.383000 17 77 0 0 1 0 0 TRAT1 50852 broad.mit.edu 37 3 108549583 108549583 + Missense_Mutation SNP C C T TCGA-CQ-A4C7-01A-11D-A25D-08 TCGA-CQ-A4C7-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a866f81-fa94-45e3-b14e-a2426986b9ef e4ac2486-26df-47bb-8d6e-37ad20ce7731 g.chr3:108549583C>T ENST00000295756.6 + 2 304 c.74C>T c.(73-75)tCa>tTa p.S25L TRAT1_ENST00000426646.1_Intron|TRAT1_ENST00000493604.1_3'UTR NM_016388.2 NP_057472.2 Q6PIZ9 TRAT1_HUMAN T cell receptor associated transmembrane adaptor 1 25 cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway integral to plasma membrane|T cell receptor complex phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3) 28 TTGGTTATATCACTGATCTTC 0.393000 8 65 0 0 1 0 0 ECE2 9718 broad.mit.edu 37 3 183975424 183975424 + Silent SNP C C G TCGA-CQ-A4C7-01A-11D-A25D-08 TCGA-CQ-A4C7-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a866f81-fa94-45e3-b14e-a2426986b9ef e4ac2486-26df-47bb-8d6e-37ad20ce7731 g.chr3:183975424C>G ENST00000402825.3 + 2 360 c.360C>G c.(358-360)ccC>ccG p.P120P EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000324557.4_Silent_p.P120P NM_014693.3 NP_055508.3 O60344 ECE2_HUMAN endothelin converting enzyme 2 120 Methyltransferase-like region. brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing cytoplasmic vesicle membrane|Golgi membrane|integral to membrane metal ion binding|metalloendopeptidase activity|methyltransferase activity breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4) 49 all_cancers(143;1.39e-10)|Ovarian(172;0.0339) Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) TGGACTTCCCCAGTGCTTCTT 0.612000 4 55 0 0 1 0 0 LPHN2 23266 broad.mit.edu 37 1 82372826 82372826 + Silent SNP G G T TCGA-CQ-A4C7-01A-11D-A25D-08 TCGA-CQ-A4C7-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a866f81-fa94-45e3-b14e-a2426986b9ef e4ac2486-26df-47bb-8d6e-37ad20ce7731 g.chr1:82372826G>T ENST00000370728.1 + 6 843 c.198G>T c.(196-198)cgG>cgT p.R66R LPHN2_ENST00000370713.1_Silent_p.R66R|LPHN2_ENST00000271029.4_Silent_p.R66R|LPHN2_ENST00000370715.1_Silent_p.R66R|LPHN2_ENST00000394879.1_Silent_p.R66R|LPHN2_ENST00000370721.1_Silent_p.R66R|LPHN2_ENST00000370730.1_Silent_p.R66R|LPHN2_ENST00000319517.6_Silent_p.R66R|LPHN2_ENST00000359929.3_Silent_p.R66R|LPHN2_ENST00000335786.5_Silent_p.R66R|LPHN2_ENST00000370717.2_Silent_p.R66R|LPHN2_ENST00000370723.1_Silent_p.R66R|LPHN2_ENST00000370727.1_Silent_p.R66R|LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000370725.1_Silent_p.R66R O95490 LPHN2_HUMAN latrophilin 2 66 SUEL-type lectin. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) ACTATGGTCGGACGGATGACA 0.453000 6 94 0.217242 0.217242 1 1 0 SLC35E1 79939 broad.mit.edu 37 19 16666183 16666183 + Missense_Mutation SNP G G A TCGA-CQ-A4C7-01A-11D-A25D-08 TCGA-CQ-A4C7-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a866f81-fa94-45e3-b14e-a2426986b9ef e4ac2486-26df-47bb-8d6e-37ad20ce7731 g.chr19:16666183G>A ENST00000595753.1 - 5 799 c.782C>T c.(781-783)aCg>aTg p.T261M CTD-3222D19.2_ENST00000409035.1_Intron NM_024881.4 NP_079157.3 Q96K37 S35E1_HUMAN solute carrier family 35, member E1 261 transport integral to membrane central_nervous_system(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(2)|ovary(1) 15 GAGCAGGAGCGTCCAGGGCCA 0.597000 4 50 0 0 1 0 0 GMNN 51053 broad.mit.edu 37 6 24784759 24784759 + Nonsense_Mutation SNP C C T TCGA-CQ-A4C7-01A-11D-A25D-08 TCGA-CQ-A4C7-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a866f81-fa94-45e3-b14e-a2426986b9ef e4ac2486-26df-47bb-8d6e-37ad20ce7731 g.chr6:24784759C>T ENST00000230056.3 + 6 777 c.445C>T c.(445-447)Cag>Tag p.Q149* GMNN_ENST00000356509.3_Nonsense_Mutation_p.Q149* NM_015895.4 NP_056979.1 O75496 GEMI_HUMAN geminin, DNA replication inhibitor 149 Necessary and sufficient for interaction with IDAS. M/G1 transition of mitotic cell cycle|negative regulation of cell cycle|negative regulation of DNA replication|negative regulation of transcription, DNA-dependent cytosol|nucleoplasm histone deacetylase binding p.Q149*(1) endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1) 10 AGAACATGTACAGTATATGGC 0.328000 16 34 0 0 1 0 0 AFTPH 54812 broad.mit.edu 37 2 64778891 64778893 + In_Frame_Del DEL GAA GAA - TCGA-CQ-A4C7-01A-11D-A25D-08 TCGA-CQ-A4C7-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a866f81-fa94-45e3-b14e-a2426986b9ef e4ac2486-26df-47bb-8d6e-37ad20ce7731 g.chr2:64778891_64778893delGAA ENST00000422803.1 + 2 597_599 c.283_285delGAA c.(283-285)del p.E95del AFTPH_ENST00000238856.4_In_Frame_Del_p.E95del|AFTPH_ENST00000409933.1_In_Frame_Del_p.E95del|AFTPH_ENST00000238855.7_In_Frame_Del_p.E95del Q6ULP2 AFTIN_HUMAN aftiphilin 95 protein transport AP-1 adaptor complex|cytosol|nucleus clathrin binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 35 CATCACTGCTGAACTTTCTGCTC 0.355 9 50 --- --- --- --- DOCK3 1795 broad.mit.edu 37 3 51376375 51376375 + Frame_Shift_Del DEL A A - TCGA-CQ-A4C7-01A-11D-A25D-08 TCGA-CQ-A4C7-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a866f81-fa94-45e3-b14e-a2426986b9ef e4ac2486-26df-47bb-8d6e-37ad20ce7731 g.chr3:51376375delA ENST00000266037.9 + 37 3705 c.3682delA c.(3682-3684)aafs p.K1228fs NM_004947.4 NP_004938.1 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 1228 DHR-2. cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) GAATTTTTACAAATCTGAGAT 0.463 2 4 --- --- --- --- NFE2L3 9603 broad.mit.edu 37 7 26192147 26192148 + In_Frame_Ins INS - - CGG TCGA-CQ-A4C7-01A-11D-A25D-08 TCGA-CQ-A4C7-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a866f81-fa94-45e3-b14e-a2426986b9ef e4ac2486-26df-47bb-8d6e-37ad20ce7731 g.chr7:26192147_26192148insCGG ENST00000056233.3 + 1 288_289 c.29_30insCGG c.(28-30)ggg>gCGGgg p.10_11insA NM_004289.6 NP_004280.5 Q9Y4A8 NF2L3_HUMAN nuclear factor, erythroid 2-like 3 10 transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7) 29 TGGTGGTCGGCCGGCGGCGGCC 0.757 7 10 --- --- --- --- IL4R 3566 broad.mit.edu 37 16 27363939 27363942 + Frame_Shift_Del DEL AGGG AGGG - TCGA-CQ-A4C7-01A-11D-A25D-08 TCGA-CQ-A4C7-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a866f81-fa94-45e3-b14e-a2426986b9ef e4ac2486-26df-47bb-8d6e-37ad20ce7731 g.chr16:27363939_27363942delAGGG ENST00000395762.2 + 7 851_854 c.592_595delAGGG c.(592-597)cafs p.RA198fs IL4R_ENST00000449195.1_Frame_Shift_Del_p.RA198fs|IL4R_ENST00000543915.2_Frame_Shift_Del_p.RA198fs|IL4R_ENST00000170630.2_Frame_Shift_Del_p.RA198fs|IL4R_ENST00000380922.3_Frame_Shift_Del_p.RA183fs NM_000418.3 NP_000409.1 P24394 IL4RA_HUMAN interleukin 4 receptor 198 Fibronectin type-III. immune response|production of molecular mediator involved in inflammatory response integral to plasma membrane identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 33 GATTTCCTACAGGGCACGGGTGAG 0.544 10 120 --- --- --- --- PAFAH1B3 5050 broad.mit.edu 37 19 42806160 42806160 + Frame_Shift_Del DEL T T - TCGA-CQ-A4C7-01A-11D-A25D-08 TCGA-CQ-A4C7-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3a866f81-fa94-45e3-b14e-a2426986b9ef e4ac2486-26df-47bb-8d6e-37ad20ce7731 g.chr19:42806160delT ENST00000538771.1 - 3 466 c.110delA c.(109-111)agfs p.K37fs PAFAH1B3_ENST00000262890.3_Frame_Shift_Del_p.K37fs NM_001145939.1|NM_001145940.1 NP_001139411.1|NP_001139412.1 Q15102 PA1B3_HUMAN platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 (29kDa) 37 lipid catabolic process|nervous system development cytoplasm 1-alkyl-2-acetylglycerophosphocholine esterase activity|protein binding breast(1)|large_intestine(2)|ovary(1) 4 Prostate(69;0.0704) TTCGGGTTCCTTATCTTTGCT 0.647 2 4 --- --- --- ---