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 PIEZO2 63895 broad.mit.edu 37 18 10671755 10671755 + Silent SNP T T A TCGA-FG-A4MW-01A-11D-A26M-08 TCGA-FG-A4MW-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 599c96ab-fdfb-4322-aea4-4915a5d98975 bf3e7591-0488-4648-b6ce-4630ce883551 g.chr18:10671755T>A ENST00000302079.6 - 51 7838 c.7839A>T c.(7837-7839)tcA>tcT p.S2613S PIEZO2_ENST00000503781.3_Silent_p.S2676S|PIEZO2_ENST00000581680.1_5'UTR|PIEZO2_ENST00000538948.1_Silent_p.S633S|PIEZO2_ENST00000580640.1_Silent_p.S2701S|PIEZO2_ENST00000285141.4_Silent_p.S468S Q9H5I5 PIEZ2_HUMAN piezo-type mechanosensitive ion channel component 2 2676 integral to membrane ion channel activity CAAGGACAACTGAAGCATATA 0.323000 13 22 0 0 1 0 0 ADAM28 10863 broad.mit.edu 37 8 24207446 24207446 + Missense_Mutation SNP G G A TCGA-FG-A4MW-01A-11D-A26M-08 TCGA-FG-A4MW-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 599c96ab-fdfb-4322-aea4-4915a5d98975 bf3e7591-0488-4648-b6ce-4630ce883551 g.chr8:24207446G>A ENST00000265769.4 + 19 2170 c.2060G>A c.(2059-2061)cGg>cAg p.R687Q ADAM28_ENST00000397649.3_Silent_p.P435P|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA NM_014265.4 NP_055080.2 Q9UKQ2 ADA28_HUMAN ADAM metallopeptidase domain 28 687 proteolysis|spermatogenesis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Prostate(55;0.0959) Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175) ATGGTAATCCGGCACCAGAGC 0.478000 23 48 0 0 1 0 0 COLEC11 78989 broad.mit.edu 37 2 3691388 3691388 + Missense_Mutation SNP G G A TCGA-FG-A4MW-01A-11D-A26M-08 TCGA-FG-A4MW-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 599c96ab-fdfb-4322-aea4-4915a5d98975 bf3e7591-0488-4648-b6ce-4630ce883551 g.chr2:3691388G>A ENST00000403096.3 + 6 909 c.418G>A c.(418-420)Gcc>Acc p.A140T COLEC11_ENST00000404205.1_Missense_Mutation_p.A92T|COLEC11_ENST00000382062.2_Missense_Mutation_p.A142T|COLEC11_ENST00000349077.4_Missense_Mutation_p.A166T|COLEC11_ENST00000236693.7_Missense_Mutation_p.A163T|COLEC11_ENST00000402794.1_Missense_Mutation_p.A116T|COLEC11_ENST00000418971.2_Missense_Mutation_p.A180T|COLEC11_ENST00000487365.1_3'UTR|COLEC11_ENST00000402922.1_Missense_Mutation_p.A116T NM_001255986.1 NP_001242915.1 Q9BWP8 COL11_HUMAN collectin sub-family member 11 166 collagen mannose binding central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1) 22 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093) OV - Ovarian serous cystadenocarcinoma(76;0.127) CTACGCGGACGCCCAGCTGTC 0.662000 20 54 0 0 1 0 0 PTCH2 8643 broad.mit.edu 37 1 45294292 45294292 + Silent SNP G G A TCGA-FG-A4MW-01A-11D-A26M-08 TCGA-FG-A4MW-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 599c96ab-fdfb-4322-aea4-4915a5d98975 bf3e7591-0488-4648-b6ce-4630ce883551 g.chr1:45294292G>A ENST00000447098.2 - 12 1487 c.1476C>T c.(1474-1476)ggC>ggT p.G492G PTCH2_ENST00000372192.3_Silent_p.G492G NM_001166292.1 NP_001159764.1 Q9Y6C5 PTC2_HUMAN patched 2 492 SSD. protein complex assembly|spermatogenesis integral to plasma membrane hedgehog receptor activity NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 50 Acute lymphoblastic leukemia(166;0.155) GCAGACACTCGCCCATGCGCT 0.632000 Basal Cell Nevus syndrome 5 9 0 0 1 0 0 CTTNBP2 83992 broad.mit.edu 37 7 117424371 117424371 + Missense_Mutation SNP C C T TCGA-FG-A4MW-01A-11D-A26M-08 TCGA-FG-A4MW-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 599c96ab-fdfb-4322-aea4-4915a5d98975 bf3e7591-0488-4648-b6ce-4630ce883551 g.chr7:117424371C>T ENST00000160373.3 - 5 2297 c.2206G>A c.(2206-2208)Gac>Aac p.D736N NM_033427.2 NP_219499.1 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 736 breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) TAATTAATGTCCAGTCCTTCT 0.478000 31 105 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091841 29091841 + Silent SNP G G A rs146546850 byFrequency TCGA-FG-A4MW-01A-11D-A26M-08 TCGA-FG-A4MW-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 599c96ab-fdfb-4322-aea4-4915a5d98975 bf3e7591-0488-4648-b6ce-4630ce883551 g.chr22:29091841G>A ENST00000544772.1 - 12 1889 c.453C>T c.(451-453)tcC>tcT p.S151S CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000405598.1_Silent_p.S372S NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 372 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.S372S(8) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCAAAATCTTGGAGTGCCCAA 0.413000 F breast Direct reversal of damage;Other conserved DNA damage response genes 4 40 0 0 1 0 0 MAK16 84549 broad.mit.edu 37 8 33356082 33356082 + Silent SNP C C A TCGA-FG-A4MW-01A-11D-A26M-08 TCGA-FG-A4MW-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 599c96ab-fdfb-4322-aea4-4915a5d98975 bf3e7591-0488-4648-b6ce-4630ce883551 g.chr8:33356082C>A ENST00000360128.6 + 10 1295 c.838C>A c.(838-840)Cga>Aga p.R280R TTI2_ENST00000519356.1_Intron NM_032509.3 NP_115898.2 Q9BXY0 MAK16_HUMAN MAK16 homolog (S. cerevisiae) 280 nucleolus endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1) 8 GCAGAGAAAACGAGCCTATGT 0.483000 17 56 1.99824e-07 1.99824e-07 1 1 0 ENPEP 2028 broad.mit.edu 37 4 111398156 111398156 + Missense_Mutation SNP C C A rs112068198 byFrequency TCGA-FG-A4MW-01A-11D-A26M-08 TCGA-FG-A4MW-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 599c96ab-fdfb-4322-aea4-4915a5d98975 bf3e7591-0488-4648-b6ce-4630ce883551 g.chr4:111398156C>A ENST00000265162.5 + 1 928 c.586C>A c.(586-588)Ctg>Atg p.L196M NM_001977.3 NP_001968.3 Q07075 AMPE_HUMAN glutamyl aminopeptidase (aminopeptidase A) 196 cell migration|cell proliferation|cell-cell signaling|proteolysis integral to plasma membrane aminopeptidase activity|metalloexopeptidase activity|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.0031) L-Glutamic Acid(DB00142) CGCCGGCTGGCTGAACGGCTC 0.502000 20 50 7.45023e-12 7.77066e-12 1 1 0 CDH8 1006 broad.mit.edu 37 16 62055208 62055208 + Nonsense_Mutation SNP G G A TCGA-FG-A4MW-01A-11D-A26M-08 TCGA-FG-A4MW-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 599c96ab-fdfb-4322-aea4-4915a5d98975 bf3e7591-0488-4648-b6ce-4630ce883551 g.chr16:62055208G>A ENST00000577390.1 - 2 1054 c.100C>T c.(100-102)Cag>Tag p.Q34* CDH8_ENST00000299345.6_Nonsense_Mutation_p.Q34*|CDH8_ENST00000577730.1_Nonsense_Mutation_p.Q34*|CDH8_ENST00000584337.1_Nonsense_Mutation_p.Q34* NM_001796.4 NP_001787.2 P55286 CADH8_HUMAN cadherin 8, type 2 34 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4) 112 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) ACTTGAGACTGATTCATCGGA 0.443000 9 20 0 0 1 0 0 CARD11 84433 broad.mit.edu 37 7 2983911 2983911 + Missense_Mutation SNP G G A TCGA-FG-A4MW-01A-11D-A26M-08 TCGA-FG-A4MW-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 599c96ab-fdfb-4322-aea4-4915a5d98975 bf3e7591-0488-4648-b6ce-4630ce883551 g.chr7:2983911G>A ENST00000396946.4 - 5 1022 c.619C>T c.(619-621)Cgc>Tgc p.R207C AC004906.3_ENST00000423194.1_RNA NM_032415.4 NP_115791.3 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 207 positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) TGTGCGTAGCGCATGGCTAAG 0.567000 Mis DLBCL 17 87 0 0 1 0 0 PLCG2 5336 broad.mit.edu 37 16 81953229 81953229 + Missense_Mutation SNP G G A TCGA-FG-A4MW-01A-11D-A26M-08 TCGA-FG-A4MW-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 599c96ab-fdfb-4322-aea4-4915a5d98975 bf3e7591-0488-4648-b6ce-4630ce883551 g.chr16:81953229G>A ENST00000359376.3 + 20 2409 c.2195G>A c.(2194-2196)cGc>cAc p.R732H NM_002661.3 NP_002652.2 P16885 PLCG2_HUMAN phospholipase C, gamma 2 (phosphatidylinositol-specific) 732 SH2 2. intracellular signal transduction|phospholipid catabolic process|platelet activation plasma membrane phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 58 ATGAGACTGCGCTACCCCGTG 0.537000 26 39 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091840 29091840 + Missense_Mutation SNP T T C rs142470496 byFrequency TCGA-FG-A4MW-01A-11D-A26M-08 TCGA-FG-A4MW-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 599c96ab-fdfb-4322-aea4-4915a5d98975 bf3e7591-0488-4648-b6ce-4630ce883551 g.chr22:29091840T>C ENST00000544772.1 - 12 1890 c.454A>G c.(454-456)Aag>Gag p.K152E CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 373 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.K373E(9) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCCAAAATCTTGGAGTGCCCA 0.418000 F breast Direct reversal of damage;Other conserved DNA damage response genes 4 39 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625941 29625941 + Missense_Mutation SNP A A T TCGA-FG-A4MW-01A-11D-A26M-08 TCGA-FG-A4MW-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 599c96ab-fdfb-4322-aea4-4915a5d98975 bf3e7591-0488-4648-b6ce-4630ce883551 g.chr20:29625941A>T ENST00000278882.3 + 5 565 c.185A>T c.(184-186)gAt>gTt p.D62V FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V|FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V p.D62V(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGGCATTCAGATGCAATTGGA 0.333000 6 67 0 0 1 0 0 HLA-DPB1 3115 broad.mit.edu 37 6 33052887 33052887 + Silent SNP C C A TCGA-FG-A4MW-01A-11D-A26M-08 TCGA-FG-A4MW-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 599c96ab-fdfb-4322-aea4-4915a5d98975 bf3e7591-0488-4648-b6ce-4630ce883551 g.chr6:33052887C>A ENST00000418931.2 + 3 641 c.525C>A c.(523-525)atC>atA p.I175I NM_002121.5 NP_002112.3 P04440 DPB1_HUMAN major histocompatibility complex, class II, DP beta 1 175 Beta-2.|Ig-like C1-type. antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to membrane|lysosomal membrane|MHC class II protein complex cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1) 11 CCAACCTGATCCGTAATGGAG 0.552000 24 64 4.72057e-08 4.81995e-08 1 1 0 TRPV5 56302 broad.mit.edu 37 7 142627452 142627452 + Missense_Mutation SNP C C T TCGA-FG-A4MW-01A-11D-A26M-08 TCGA-FG-A4MW-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 599c96ab-fdfb-4322-aea4-4915a5d98975 bf3e7591-0488-4648-b6ce-4630ce883551 g.chr7:142627452C>T ENST00000265310.1 - 2 566 c.218G>A c.(217-219)cGa>cAa p.R73Q TRPV5_ENST00000442623.1_Missense_Mutation_p.R73Q NM_019841.4 NP_062815.2 Q9NQA5 TRPV5_HUMAN transient receptor potential cation channel, subfamily V, member 5 73 protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 67 Melanoma(164;0.059) ACCTCTTTGTCGAACGTCACA 0.512000 23 56 0 0 1 0 0 SAMD15 161394 broad.mit.edu 37 14 77844618 77844618 + Missense_Mutation SNP C C T TCGA-FG-A4MW-01A-11D-A26M-08 TCGA-FG-A4MW-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 599c96ab-fdfb-4322-aea4-4915a5d98975 bf3e7591-0488-4648-b6ce-4630ce883551 g.chr14:77844618C>T ENST00000216471.4 + 1 1143 c.857C>T c.(856-858)cCa>cTa p.P286L SAMD15_ENST00000533095.2_Intron NM_001010860.1 NP_001010860.1 Q9P1V8 SAM15_HUMAN sterile alpha motif domain containing 15 286 breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 GAGACTCAACCAGAGGTTCCA 0.512000 25 46 0 0 1 0 0 PMFBP1 83449 broad.mit.edu 37 16 72166638 72166638 + Missense_Mutation SNP G G A TCGA-FG-A4MW-01A-11D-A26M-08 TCGA-FG-A4MW-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 599c96ab-fdfb-4322-aea4-4915a5d98975 bf3e7591-0488-4648-b6ce-4630ce883551 g.chr16:72166638G>A ENST00000537465.1 - 10 1614 c.1456C>T c.(1456-1458)Cct>Tct p.P486S PMFBP1_ENST00000237353.10_Intron|PMFBP1_ENST00000355636.6_Intron Q8TBY8 PMFBP_HUMAN polyamine modulated factor 1 binding protein 1 486 NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 45 Ovarian(137;0.179) GCACCTGCAGGGGCCTCACCA 0.632000 12 45 0 0 1 0 0 ZNF492 57615 broad.mit.edu 37 19 22847685 22847685 + Missense_Mutation SNP C C T TCGA-FG-A4MW-01A-11D-A26M-08 TCGA-FG-A4MW-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 599c96ab-fdfb-4322-aea4-4915a5d98975 bf3e7591-0488-4648-b6ce-4630ce883551 g.chr19:22847685C>T ENST00000456783.2 + 4 1458 c.1214C>T c.(1213-1215)tCg>tTg p.S405L NM_020855.2 NP_065906.1 Q9P255 ZN492_HUMAN zinc finger protein 492 405 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244) TTTAACCTATCGTCACAACTT 0.383000 8 49 0 0 1 0 0 KANK3 256949 broad.mit.edu 37 19 8389602 8389602 + Missense_Mutation SNP G G A TCGA-FG-A4MW-01A-11D-A26M-08 TCGA-FG-A4MW-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 599c96ab-fdfb-4322-aea4-4915a5d98975 bf3e7591-0488-4648-b6ce-4630ce883551 g.chr19:8389602G>A ENST00000330915.3 - 9 2260 c.2195C>T c.(2194-2196)gCg>gTg p.A732V KANK3_ENST00000593649.1_Missense_Mutation_p.A732V NM_198471.2 NP_940873.2 Q6NY19 KANK3_HUMAN KN motif and ankyrin repeat domains 3 732 breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1) 9 ACACATCAGCGCTGTGGCCCC 0.637000 20 54 0 0 1 0 0 PHGDH 26227 broad.mit.edu 37 1 120254648 120254648 + Translation_Start_Site SNP G G A TCGA-FG-A4MW-01A-11D-A26M-08 TCGA-FG-A4MW-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 599c96ab-fdfb-4322-aea4-4915a5d98975 bf3e7591-0488-4648-b6ce-4630ce883551 g.chr1:120254648G>A ENST00000369409.4 + 1 139 c.3G>A c.(1-3)atG>atA p.M1I NM_006623.3 NP_006614.2 O43175 SERA_HUMAN phosphoglycerate dehydrogenase 1 brain development|L-serine biosynthetic process electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity p.M1I(1) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2) 18 all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219) all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347) Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593) NADH(DB00157) CTCCAGCAATGGCTTTTGCAA 0.557000 16 38 0 0 1 0 0 IGKV1D-17 0 broad.mit.edu 37 2 90121979 90121979 + RNA SNP C C A TCGA-FG-A4MW-01A-11D-A26M-08 TCGA-FG-A4MW-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 599c96ab-fdfb-4322-aea4-4915a5d98975 bf3e7591-0488-4648-b6ce-4630ce883551 g.chr2:90121979C>A ENST00000483379.1 + 0 378 GGGAAAGTCCCTAAGCACCTG 0.507000 9 158 1.76689e-08 1.82328e-08 1 1 0 MAGEA11 4110 broad.mit.edu 37 X 148798319 148798319 + Silent SNP C C T TCGA-FG-A4MW-01A-11D-A26M-08 TCGA-FG-A4MW-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 599c96ab-fdfb-4322-aea4-4915a5d98975 bf3e7591-0488-4648-b6ce-4630ce883551 g.chrX:148798319C>T ENST00000355220.5 + 5 1275 c.1173C>T c.(1171-1173)caC>caT p.H391H MAGEA11_ENST00000333104.4_Silent_p.H362H NM_005366.4 NP_005357.2 P43364 MAGAB_HUMAN melanoma antigen family A, 11 391 MAGE. cytoplasm|nucleus protein binding cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1) 9 Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662) CAAGGGCCCACGCTGAGACCA 0.527000 69 25 0 0 1 0 0 CABIN1 23523 broad.mit.edu 37 22 24451502 24451502 + Missense_Mutation SNP A A G TCGA-FG-A4MW-01A-11D-A26M-08 TCGA-FG-A4MW-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 599c96ab-fdfb-4322-aea4-4915a5d98975 bf3e7591-0488-4648-b6ce-4630ce883551 g.chr22:24451502A>G ENST00000398319.2 + 9 1358 c.973A>G c.(973-975)Agc>Ggc p.S325G CABIN1_ENST00000405822.2_Missense_Mutation_p.S275G|CABIN1_ENST00000263119.5_Missense_Mutation_p.S325G NM_001199281.1 NP_001186210.1 Q9Y6J0 CABIN_HUMAN calcineurin binding protein 1 325 cell surface receptor linked signaling pathway|chromatin modification nucleus protein phosphatase inhibitor activity breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 GATCCAGCCAAGCACTGTCAG 0.577000 25 67 0 0 1 0 0 GOLGA5 9950 broad.mit.edu 37 14 93276685 93276685 + Missense_Mutation SNP C C T TCGA-FG-A4MW-01A-11D-A26M-08 TCGA-FG-A4MW-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 599c96ab-fdfb-4322-aea4-4915a5d98975 bf3e7591-0488-4648-b6ce-4630ce883551 g.chr14:93276685C>T ENST00000163416.2 + 5 1335 c.1079C>T c.(1078-1080)aCt>aTt p.T360I GOLGA5_ENST00000355976.2_Missense_Mutation_p.T360I NM_005113.2 NP_005104.2 Q8TBA6 GOGA5_HUMAN golgin A5 360 Golgi organization cis-Golgi network|integral to membrane ATP binding|protein homodimerization activity|protein tyrosine kinase activity|Rab GTPase binding large_intestine(6)|lung(1)|ovary(2) 9 all_cancers(154;0.0934) COAD - Colon adenocarcinoma(157;0.222) GCGGATGCCACTCTGAAGAGA 0.433000 T RET papillary thyroid 10 18 0 0 1 0 0 SERPINB7 8710 broad.mit.edu 37 18 61449715 61449715 + Missense_Mutation SNP G G A TCGA-FG-A4MW-01A-11D-A26M-08 TCGA-FG-A4MW-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 599c96ab-fdfb-4322-aea4-4915a5d98975 bf3e7591-0488-4648-b6ce-4630ce883551 g.chr18:61449715G>A ENST00000398019.2 + 2 434 c.109G>A c.(109-111)Gct>Act p.A37T SERPINB7_ENST00000336429.2_Missense_Mutation_p.A37T|SERPINB7_ENST00000546027.1_Missense_Mutation_p.A37T|SERPINB7_ENST00000540675.1_Missense_Mutation_p.A37T NM_003784.3 NP_003775.1 O75635 SPB7_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 7 37 regulation of proteolysis cytoplasm serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3) 27 Esophageal squamous(42;0.129) GAGCCTCTTCGCTGCCCTGGC 0.483000 16 31 0 0 1 0 0 ACSL1 2180 broad.mit.edu 37 4 185678385 185678385 + Missense_Mutation SNP G G A TCGA-FG-A4MW-01A-11D-A26M-08 TCGA-FG-A4MW-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 599c96ab-fdfb-4322-aea4-4915a5d98975 bf3e7591-0488-4648-b6ce-4630ce883551 g.chr4:185678385G>A ENST00000515030.1 - 21 2316 c.1991C>T c.(1990-1992)tCt>tTt p.S664F ACSL1_ENST00000507295.1_Missense_Mutation_p.S630F|ACSL1_ENST00000437665.3_Missense_Mutation_p.S493F|ACSL1_ENST00000513317.1_Missense_Mutation_p.S664F|ACSL1_ENST00000504342.1_Missense_Mutation_p.S664F|ACSL1_ENST00000281455.2_Missense_Mutation_p.S664F|ACSL1_ENST00000454703.2_Missense_Mutation_p.S493F P33121 ACSL1_HUMAN acyl-CoA synthetase long-chain family member 1 664 digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2) 38 all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146) all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419) Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) ATTGTCGATAGAAAATAATTC 0.453000 17 23 0 0 1 0 0 HECTD4 283450 broad.mit.edu 37 12 112647838 112647838 + Silent SNP G G A TCGA-FG-A4MW-01A-11D-A26M-08 TCGA-FG-A4MW-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 599c96ab-fdfb-4322-aea4-4915a5d98975 bf3e7591-0488-4648-b6ce-4630ce883551 g.chr12:112647838G>A ENST00000550722.1 - 50 7805 c.7410C>T c.(7408-7410)gcC>gcT p.A2470A HECTD4_ENST00000430131.2_Silent_p.A2194A|HECTD4_ENST00000377560.5_Silent_p.A2444A NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 CGGTGGCCACGGCAGCAATCC 0.537000 7 19 0 0 1 0 0 ARSG 22901 broad.mit.edu 37 17 66391215 66391215 + Splice_Site SNP G G A TCGA-FG-A4MW-01A-11D-A26M-08 TCGA-FG-A4MW-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 599c96ab-fdfb-4322-aea4-4915a5d98975 bf3e7591-0488-4648-b6ce-4630ce883551 g.chr17:66391215G>A ENST00000448504.2 + 10 1889 c.1091_splice c.e10-1 p.V365_splice ARSG_ENST00000452479.2_Splice_Site_p.V201_splice|ARSG_ENST00000582154.1_3'UTR NM_014960.4 NP_055775.2 Q96EG1 ARSG_HUMAN arylsulfatase G 365 sulfur compound metabolic process endoplasmic reticulum|extracellular space|lysosome arylsulfatase activity|metal ion binding NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 26 BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24) TTTCCGCAGCGTGCTGGACAT 0.597000 16 26 0 0 1 0 0 TBL1Y 90665 broad.mit.edu 37 Y 6911098 6911098 + Missense_Mutation SNP C C T TCGA-FG-A4MW-01A-11D-A26M-08 TCGA-FG-A4MW-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 599c96ab-fdfb-4322-aea4-4915a5d98975 bf3e7591-0488-4648-b6ce-4630ce883551 g.chrY:6911098C>T ENST00000383032.1 + 7 783 c.136C>T c.(136-138)Ccg>Tcg p.P46S TBL1Y_ENST00000346432.3_Missense_Mutation_p.P46S|TBL1Y_ENST00000355162.2_Missense_Mutation_p.P46S NM_033284.1 NP_150600.1 Q9BQ87 TBL1Y_HUMAN transducin (beta)-like 1, Y-linked 46 F-box-like. transcription, DNA-dependent kidney(1)|large_intestine(4)|lung(2)|skin(1) 8 ACTAGTGCCACCGTCTGCCCT 0.532000 14 9 0 0 1 0 0 MYO5C 55930 broad.mit.edu 37 15 52534268 52534268 + Silent SNP G G A TCGA-FG-A4MW-01A-11D-A26M-08 TCGA-FG-A4MW-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 599c96ab-fdfb-4322-aea4-4915a5d98975 bf3e7591-0488-4648-b6ce-4630ce883551 g.chr15:52534268G>A ENST00000261839.7 - 20 2694 c.2533C>T c.(2533-2535)Ctg>Ttg p.L845L MYO5C_ENST00000443683.2_Intron NM_018728.3 NP_061198.2 Q9NQX4 MYO5C_HUMAN myosin VC 845 IQ 4. myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 all cancers(107;0.0137) CTCCTTGCCAGGAATCCTCGG 0.537000 53 44 0 0 1 0 0 ZNF540 163255 broad.mit.edu 37 19 38103617 38103617 + Missense_Mutation SNP G G A TCGA-FG-A4MW-01A-11D-A26M-08 TCGA-FG-A4MW-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 599c96ab-fdfb-4322-aea4-4915a5d98975 bf3e7591-0488-4648-b6ce-4630ce883551 g.chr19:38103617G>A ENST00000592533.1 + 5 1768 c.1436G>A c.(1435-1437)cGt>cAt p.R479H ZNF540_ENST00000343599.5_Missense_Mutation_p.R479H|ZNF540_ENST00000316433.4_Missense_Mutation_p.R479H|ZNF540_ENST00000589117.1_Missense_Mutation_p.R447H NM_152606.4 NP_689819.1 zinc finger protein 540 breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1) 28 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TTTCGAGTTCGTTCTCAAATT 0.398000 17 44 0 0 1 0 0 RBMS3 27303 broad.mit.edu 37 3 29977603 29977603 + Silent SNP C C T TCGA-FG-A4MW-01A-11D-A26M-08 TCGA-FG-A4MW-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 599c96ab-fdfb-4322-aea4-4915a5d98975 bf3e7591-0488-4648-b6ce-4630ce883551 g.chr3:29977603C>T ENST00000434693.2 + 11 1663 c.963C>T c.(961-963)gaC>gaT p.D321D RBMS3_ENST00000383767.2_Silent_p.D322D|RBMS3_ENST00000456853.1_Silent_p.D335D|RBMS3_ENST00000452462.1_Silent_p.D322D|RBMS3_ENST00000273139.9_Silent_p.D322D|RBMS3_ENST00000396583.3_Silent_p.D335D|RBMS3_ENST00000473799.1_3'UTR|RBMS3_ENST00000383766.2_Silent_p.D304D NM_001003793.2 NP_001003793.1 Q6XE24 RBMS3_HUMAN RNA binding motif, single stranded interacting protein 3 322 cytoplasm nucleotide binding|RNA binding breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 11 Ovarian(412;0.0956) CAACCATGGACCATCCCATGT 0.438000 5 16 0 0 1 0 0 OPN4 94233 broad.mit.edu 37 10 88418318 88418318 + Missense_Mutation SNP C C T rs143641898 byFrequency TCGA-FG-A4MW-01A-11D-A26M-08 TCGA-FG-A4MW-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 599c96ab-fdfb-4322-aea4-4915a5d98975 bf3e7591-0488-4648-b6ce-4630ce883551 g.chr10:88418318C>T ENST00000372071.2 + 5 762 c.535C>T c.(535-537)Cgc>Tgc p.R179C OPN4_ENST00000241891.5_Missense_Mutation_p.R168C NM_001030015.2 NP_001025186.1 Q9UHM6 OPN4_HUMAN opsin 4 168 phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception integral to membrane|plasma membrane 11-cis retinal binding|G-protein coupled photoreceptor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3) 18 CGCCCTGGACCGCTACCTGGT 0.617000 20 19 0 0 1 0 0 PEAR1 375033 broad.mit.edu 37 1 156884576 156884576 + Missense_Mutation SNP C C T TCGA-FG-A4MW-01A-11D-A26M-08 TCGA-FG-A4MW-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 599c96ab-fdfb-4322-aea4-4915a5d98975 bf3e7591-0488-4648-b6ce-4630ce883551 g.chr1:156884576C>T ENST00000338302.3 + 24 3325 c.3100C>T c.(3100-3102)Cgc>Tgc p.R1034C PEAR1_ENST00000292357.7_Missense_Mutation_p.R1034C Q5VY43 PEAR1_HUMAN platelet endothelial aggregation receptor 1 1034 integral to membrane breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1) 43 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) TCCACTTCGACGCCAGGACCG 0.612000 12 27 0 0 1 0 0 CTIF 9811 broad.mit.edu 37 18 46284511 46284511 + Missense_Mutation SNP G G A TCGA-FG-A4MW-01A-11D-A26M-08 TCGA-FG-A4MW-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 599c96ab-fdfb-4322-aea4-4915a5d98975 bf3e7591-0488-4648-b6ce-4630ce883551 g.chr18:46284511G>A ENST00000256413.3 + 8 1101 c.806G>A c.(805-807)cGc>cAc p.R269H CTIF_ENST00000382998.4_Missense_Mutation_p.R269H NM_014772.2 NP_055587.1 O43310 CTIF_HUMAN CBP80/20-dependent translation initiation factor 269 Interaction with NCBP1/CBP80. nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation perinuclear region of cytoplasm protein binding breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 31 GGCGCACACCGCAATGCCAAA 0.642000 23 24 0 0 1 0 0 ISM1 140862 broad.mit.edu 37 20 13280078 13280078 + Missense_Mutation SNP A A G TCGA-FG-A4MW-01A-11D-A26M-08 TCGA-FG-A4MW-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 599c96ab-fdfb-4322-aea4-4915a5d98975 bf3e7591-0488-4648-b6ce-4630ce883551 g.chr20:13280078A>G ENST00000262487.3 + 6 1373 c.1367A>G c.(1366-1368)aAg>aGg p.K456R TASP1_ENST00000539805.1_Intron NM_080826.1 NP_543016.1 B1AKI9 ISM1_HUMAN isthmin 1, angiogenesis inhibitor 456 extracellular region NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1) 17 GACTACATCAAGCAGTTCCAA 0.567000 30 52 0 0 1 0 0 ATF7IP2 80063 broad.mit.edu 37 16 10574741 10574741 + Missense_Mutation SNP C C T TCGA-FG-A4MW-01A-11D-A26M-08 TCGA-FG-A4MW-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 599c96ab-fdfb-4322-aea4-4915a5d98975 bf3e7591-0488-4648-b6ce-4630ce883551 g.chr16:10574741C>T ENST00000396560.2 + 11 1782 c.1555C>T c.(1555-1557)Cca>Tca p.P519S ATF7IP2_ENST00000324570.5_Silent_p.V496V|ATF7IP2_ENST00000543967.1_Missense_Mutation_p.P63S|ATF7IP2_ENST00000356427.2_Missense_Mutation_p.P519S|ATF7IP2_ENST00000396559.1_Silent_p.V496V NM_024997.3 NP_079273.2 Q5U623 MCAF2_HUMAN activating transcription factor 7 interacting protein 2 519 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus large_intestine(3) 3 CACAGAAAGTCCAGTATCCCC 0.388000 19 48 0 0 1 0 0 SLC8A3 6547 broad.mit.edu 37 14 70515655 70515655 + Missense_Mutation SNP C C T TCGA-FG-A4MW-01A-11D-A26M-08 TCGA-FG-A4MW-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 599c96ab-fdfb-4322-aea4-4915a5d98975 bf3e7591-0488-4648-b6ce-4630ce883551 g.chr14:70515655C>T ENST00000381269.2 - 7 2989 c.2236G>A c.(2236-2238)Gtg>Atg p.V746M SLC8A3_ENST00000216568.7_Missense_Mutation_p.V117M|SLC8A3_ENST00000528359.1_Missense_Mutation_p.V744M|SLC8A3_ENST00000356921.2_Missense_Mutation_p.V740M|SLC8A3_ENST00000533541.1_Missense_Mutation_p.V103M|SLC8A3_ENST00000534137.1_Missense_Mutation_p.V743M|SLC8A3_ENST00000357887.3_Missense_Mutation_p.V744M|SLC8A3_ENST00000394330.2_Missense_Mutation_p.V103M NM_058240.2|NM_183002.1 NP_489479.1|NP_892114.1 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 3 746 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6) 54 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) GTGGGGGGCACACAGGCAAAC 0.592000 8 26 0 0 1 0 0 ZNF226 7769 broad.mit.edu 37 19 44681060 44681060 + Missense_Mutation SNP C C T TCGA-FG-A4MW-01A-11D-A26M-08 TCGA-FG-A4MW-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 599c96ab-fdfb-4322-aea4-4915a5d98975 bf3e7591-0488-4648-b6ce-4630ce883551 g.chr19:44681060C>T ENST00000590089.1 + 7 2012 c.1645C>T c.(1645-1647)Cat>Tat p.H549Y ZNF226_ENST00000337433.5_Missense_Mutation_p.H549Y|ZNF226_ENST00000454662.2_Missense_Mutation_p.H549Y|ZNF226_ENST00000588883.1_3'UTR Q9NYT6 ZN226_HUMAN zinc finger protein 226 549 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding Prostate(69;0.0352)|all_neural(266;0.202) TCTTCAAATCCATCAGAAGGC 0.443000 30 99 0 0 1 0 0 FHOD3 80206 broad.mit.edu 37 18 34156464 34156464 + Missense_Mutation SNP C C T rs143579901 byFrequency TCGA-FG-A4MW-01A-11D-A26M-08 TCGA-FG-A4MW-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 599c96ab-fdfb-4322-aea4-4915a5d98975 bf3e7591-0488-4648-b6ce-4630ce883551 g.chr18:34156464C>T ENST00000257209.4 + 6 684 c.562C>T c.(562-564)Cgc>Tgc p.R188C FHOD3_ENST00000591635.1_5'UTR|FHOD3_ENST00000359247.4_Missense_Mutation_p.R188C|FHOD3_ENST00000590592.1_Missense_Mutation_p.R188C|FHOD3_ENST00000445677.1_Missense_Mutation_p.R188C NM_025135.2 NP_079411.2 Q2V2M9 FHOD3_HUMAN formin homology 2 domain containing 3 188 GBD/FH3. actin cytoskeleton organization cytoplasm|cytoskeleton actin binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1) 90 all_epithelial(2;0.0181)|Colorectal(2;0.0195) AGTAATAAACCGCAATGAAAC 0.373000 17 23 0 0 1 0 0 ENG 2022 broad.mit.edu 37 9 130587089 130587089 + Silent SNP G G A TCGA-FG-A4MW-01A-11D-A26M-08 TCGA-FG-A4MW-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 599c96ab-fdfb-4322-aea4-4915a5d98975 bf3e7591-0488-4648-b6ce-4630ce883551 g.chr9:130587089G>A ENST00000344849.3 - 7 1261 c.981C>T c.(979-981)gcC>gcT p.A327A ENG_ENST00000373203.4_Silent_p.A327A|ENG_ENST00000480266.1_5'UTR P17813 EGLN_HUMAN endoglin 327 artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing cell surface|external side of plasma membrane|extracellular space|membrane fraction activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 17 CGCAGCTGGAGGCATGAAGTG 0.617000 Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia 9 8 0 0 1 0 0 ZNF236 7776 broad.mit.edu 37 18 74667996 74667996 + Missense_Mutation SNP G G A TCGA-FG-A4MW-01A-11D-A26M-08 TCGA-FG-A4MW-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 599c96ab-fdfb-4322-aea4-4915a5d98975 bf3e7591-0488-4648-b6ce-4630ce883551 g.chr18:74667996G>A ENST00000253159.8 + 28 5162 c.4964G>A c.(4963-4965)cGg>cAg p.R1655Q ZNF236_ENST00000320610.9_Missense_Mutation_p.R1657Q NM_007345.3 NP_031371.3 Q9UL36 ZN236_HUMAN zinc finger protein 236 1655 cellular response to glucose stimulus nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 94 Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132) OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686) AAGGAGGGCCGGGCGCACCAG 0.637000 6 10 0 0 1 0 0 SLC22A25 387601 broad.mit.edu 37 11 62997040 62997040 + Missense_Mutation SNP C C T TCGA-FG-A4MW-01A-11D-A26M-08 TCGA-FG-A4MW-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 599c96ab-fdfb-4322-aea4-4915a5d98975 bf3e7591-0488-4648-b6ce-4630ce883551 g.chr11:62997040C>T ENST00000306494.6 - 1 84 c.85G>A c.(85-87)Gtc>Atc p.V29I SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000525620.1_Intron NM_199352.3 NP_955384.3 Q6T423 S22AP_HUMAN solute carrier family 22, member 25 29 transmembrane transport integral to membrane NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7) 34 TATACTATGACGTTGAACATT 0.458000 13 30 0 0 1 0 0 SNRPA 6626 broad.mit.edu 37 19 41268829 41268829 + Silent SNP G G A TCGA-FG-A4MW-01A-11D-A26M-08 TCGA-FG-A4MW-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 599c96ab-fdfb-4322-aea4-4915a5d98975 bf3e7591-0488-4648-b6ce-4630ce883551 g.chr19:41268829G>A ENST00000243563.3 + 4 1000 c.450G>A c.(448-450)gcG>gcA p.A150A NM_004596.4 NP_004587.1 P09012 SNRPA_HUMAN small nuclear ribonucleoprotein polypeptide A 150 Pro-rich. nucleoplasm|spliceosomal complex nucleotide binding|protein binding|RNA binding central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2) 10 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) TGACTCAGGCGCCCCGCATTA 0.657000 11 24 0 0 1 0 0 MYH2 4620 broad.mit.edu 37 17 10430103 10430103 + Missense_Mutation SNP C C T TCGA-FG-A4MW-01A-11D-A26M-08 TCGA-FG-A4MW-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 599c96ab-fdfb-4322-aea4-4915a5d98975 bf3e7591-0488-4648-b6ce-4630ce883551 g.chr17:10430103C>T ENST00000245503.5 - 30 4384 c.4000G>A c.(4000-4002)Gcc>Acc p.A1334T CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Intron|MYH2_ENST00000397183.2_Missense_Mutation_p.A1334T NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 1334 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 TGCGCCAGGGCGTTCTTGGCC 0.493000 25 42 0 0 1 0 0 SLITRK3 22865 broad.mit.edu 37 3 164907844 164907844 + Missense_Mutation SNP T T C TCGA-FG-A4MW-01A-11D-A26M-08 TCGA-FG-A4MW-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 599c96ab-fdfb-4322-aea4-4915a5d98975 bf3e7591-0488-4648-b6ce-4630ce883551 g.chr3:164907844T>C ENST00000475390.1 - 2 1218 c.775A>G c.(775-777)Att>Gtt p.I259V SLITRK3_ENST00000241274.3_Missense_Mutation_p.I259V O94933 SLIK3_HUMAN SLIT and NTRK-like family, member 3 259 LRRCT 1. integral to membrane NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5) 119 TCACAGGTAATGTCTCCCACC 0.488000 HNSCC(40;0.11) 5 86 0 0 1 0 0 VLDLR 7436 broad.mit.edu 37 9 2648302 2648302 + Silent SNP G G A TCGA-FG-A4MW-01A-11D-A26M-08 TCGA-FG-A4MW-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 599c96ab-fdfb-4322-aea4-4915a5d98975 bf3e7591-0488-4648-b6ce-4630ce883551 g.chr9:2648302G>A ENST00000382100.2 + 13 2273 c.1917G>A c.(1915-1917)aaG>aaA p.K639K VLDLR_ENST00000382099.2_Silent_p.K639K NM_003383.3 NP_003374.3 P98155 VLDLR_HUMAN very low density lipoprotein receptor 639 cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 24 GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123) TAGTACTAAAGTCTCTGGAGT 0.408000 3 30 0 0 1 0 0 HAPLN1 1404 broad.mit.edu 37 5 82937339 82937339 + Silent SNP G G A TCGA-FG-A4MW-01A-11D-A26M-08 TCGA-FG-A4MW-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 599c96ab-fdfb-4322-aea4-4915a5d98975 bf3e7591-0488-4648-b6ce-4630ce883551 g.chr5:82937339G>A ENST00000274341.4 - 5 1891 c.1041C>T c.(1039-1041)gtC>gtT p.V347V NM_001884.3 NP_001875.1 P10915 HPLN1_HUMAN hyaluronan and proteoglycan link protein 1 347 Link 2. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1) 34 Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29) TGAAGCAGTAGACACCATACA 0.453000 13 97 0 0 1 0 0 KIAA1210 57481 broad.mit.edu 37 X 118284501 118284501 + Silent SNP G G A TCGA-FG-A4MW-01A-11D-A26M-08 TCGA-FG-A4MW-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 599c96ab-fdfb-4322-aea4-4915a5d98975 bf3e7591-0488-4648-b6ce-4630ce883551 g.chrX:118284501G>A ENST00000402510.2 - 1 41 c.42C>T c.(40-42)caC>caT p.H14H NM_020721.1 NP_065772.1 Q9ULL0 K1210_HUMAN KIAA1210 14 breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 64 GGAGAGAAGCGTGAAAGGCAG 0.642000 47 17 0 0 1 0 0 FSIP2 401024 broad.mit.edu 37 2 186670853 186670853 + Missense_Mutation SNP G G A TCGA-FG-A4MW-01A-11D-A26M-08 TCGA-FG-A4MW-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 599c96ab-fdfb-4322-aea4-4915a5d98975 bf3e7591-0488-4648-b6ce-4630ce883551 g.chr2:186670853G>A ENST00000343098.5 + 17 17087 c.17087G>A c.(17086-17088)gGc>gAc p.G5696D FSIP2_ENST00000424728.1_Missense_Mutation_p.G5607D NM_173651.2 NP_775922.2 fibrous sheath interacting protein 2 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2) 69 TCTGAAATAGGCTATAAAAAG 0.328000 10 27 0 0 1 0 0 RIN2 54453 broad.mit.edu 37 20 19945627 19945627 + Silent SNP C C T TCGA-FG-A4MW-01A-11D-A26M-08 TCGA-FG-A4MW-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 599c96ab-fdfb-4322-aea4-4915a5d98975 bf3e7591-0488-4648-b6ce-4630ce883551 g.chr20:19945627C>T ENST00000255006.6 + 6 791 c.642C>T c.(640-642)ttC>ttT p.F214F RIN2_ENST00000484638.1_Intron|RIN2_ENST00000440354.2_Intron NM_001242581.1|NM_018993.3 NP_001229510.1|NP_061866.1 Q8WYP3 RIN2_HUMAN Ras and Rab interactor 2 165 endocytosis|small GTPase mediated signal transduction cytoplasm GTPase activator activity|Rab guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2) 27 GAATCAGTTTCGCAGATTTAT 0.478000 23 59 0 0 1 0 0 PTCD1 26024 broad.mit.edu 37 7 99027240 99027240 + Missense_Mutation SNP C C T TCGA-FG-A4MW-01A-11D-A26M-08 TCGA-FG-A4MW-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 599c96ab-fdfb-4322-aea4-4915a5d98975 bf3e7591-0488-4648-b6ce-4630ce883551 g.chr7:99027240C>T ENST00000292478.4 - 4 1034 c.784G>A c.(784-786)Gac>Aac p.D262N PTCD1_ENST00000485746.1_5'UTR|PTCD1_ENST00000555673.1_Missense_Mutation_p.D311N|ATP5J2-PTCD1_ENST00000413834.1_Missense_Mutation_p.D311N NM_015545.3 NP_056360.2 pentatricopeptide repeat domain 1 endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1) 27 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) STAD - Stomach adenocarcinoma(171;0.215) ATCCTAAGGTCTGCGCACTTG 0.607000 18 56 0 0 1 0 0 NTN3 4917 broad.mit.edu 37 16 2522817 2522817 + Silent SNP C C T TCGA-FG-A4MW-01A-11D-A26M-08 TCGA-FG-A4MW-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 599c96ab-fdfb-4322-aea4-4915a5d98975 bf3e7591-0488-4648-b6ce-4630ce883551 g.chr16:2522817C>T ENST00000293973.1 + 2 1247 c.1044C>T c.(1042-1044)cgC>cgT p.R348R NM_006181.2 NP_006172.1 O00634 NET3_HUMAN netrin 3 348 Laminin EGF-like 2. axon guidance|muscle cell differentiation|positive regulation of muscle cell differentiation proteinaceous extracellular matrix breast(1)|central_nervous_system(2)|lung(3)|prostate(1) 7 CCGCCGGCCGCCACTGCCACT 0.701000 17 11 0 0 1 0 0 ABCA7 10347 broad.mit.edu 37 19 1053821 1053821 + Missense_Mutation SNP A A C TCGA-FG-A4MW-01A-11D-A26M-08 TCGA-FG-A4MW-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 599c96ab-fdfb-4322-aea4-4915a5d98975 bf3e7591-0488-4648-b6ce-4630ce883551 g.chr19:1053821A>C ENST00000263094.6 + 25 3689 c.3458A>C c.(3457-3459)gAc>gCc p.D1153A ABCA7_ENST00000435683.2_Missense_Mutation_p.D1015A|ABCA7_ENST00000433129.1_Missense_Mutation_p.D1153A NM_019112.3 NP_061985.2 Q8IZY2 ABCA7_HUMAN ATP-binding cassette, sub-family A (ABC1), member 7 1153 phagocytosis|transmembrane transport ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane ATP binding|ATPase activity|transporter activity NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TGTGCTGCGGACACAGATATG 0.637000 18 79 0 0 1 0 0 ATP4A 495 broad.mit.edu 37 19 36046393 36046393 + Silent SNP C C T rs143513836 byFrequency TCGA-FG-A4MW-01A-11D-A26M-08 TCGA-FG-A4MW-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 599c96ab-fdfb-4322-aea4-4915a5d98975 bf3e7591-0488-4648-b6ce-4630ce883551 g.chr19:36046393C>T ENST00000262623.3 - 14 2134 c.2106G>A c.(2104-2106)gcG>gcA p.A702A NM_000704.2 NP_000695.2 P20648 ATP4A_HUMAN ATPase, H+/K+ exchanging, alpha polypeptide 702 ATP biosynthetic process|ATP hydrolysis coupled proton transport integral to plasma membrane ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 53 all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831) GGCTGGTGCGCGCAAACACCA 0.667000 10 32 0 0 1 0 0 MYO18B 84700 broad.mit.edu 37 22 26164406 26164406 + Missense_Mutation SNP G G A TCGA-FG-A4MW-01A-11D-A26M-08 TCGA-FG-A4MW-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 599c96ab-fdfb-4322-aea4-4915a5d98975 bf3e7591-0488-4648-b6ce-4630ce883551 g.chr22:26164406G>A ENST00000335473.7 + 4 773 c.523G>A c.(523-525)Gcc>Acc p.A175T MYO18B_ENST00000407587.2_Missense_Mutation_p.A175T|MYO18B_ENST00000536101.1_Missense_Mutation_p.A175T NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 175 nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 TCCCCATGACGCCCCCCCTTG 0.597000 3 10 0 0 1 0 0 AQP4 361 broad.mit.edu 37 18 24445621 24445621 + Splice_Site SNP C C A TCGA-FG-A4MW-01A-11D-A26M-08 TCGA-FG-A4MW-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 599c96ab-fdfb-4322-aea4-4915a5d98975 bf3e7591-0488-4648-b6ce-4630ce883551 g.chr18:24445621C>A ENST00000383168.4 - 1 161 c.e1+1 AQP4-AS1_ENST00000582605.1_RNA|AQP4-AS1_ENST00000579964.1_RNA|AQP4-AS1_ENST00000578701.1_RNA|AQP4-AS1_ENST00000568797.1_RNA NM_001650.4|NM_004028.3 NP_001641.1|NP_004019.1 P55087 AQP4_HUMAN aquaporin 4 cellular response to interferon-gamma|excretion|nervous system development cytoplasm|external side of plasma membrane|integral to plasma membrane water channel activity kidney(2)|large_intestine(3)|lung(5)|skin(1) 11 all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124) GAAGGACTTACCCCCACCGCC 0.517000 21 90 6.21321e-17 6.55089e-17 1 1 0 PTEN 5728 broad.mit.edu 37 10 89624256 89624256 + Missense_Mutation SNP C C G TCGA-FG-A4MW-01A-11D-A26M-08 TCGA-FG-A4MW-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 599c96ab-fdfb-4322-aea4-4915a5d98975 bf3e7591-0488-4648-b6ce-4630ce883551 g.chr10:89624256C>G ENST00000371953.3 + 1 1387 c.30C>G c.(28-30)agC>agG p.S10R NM_000314.4 NP_000305.3 P60484 PTEN_HUMAN phosphatase and tensin homolog 10 S -> N (retains phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3; retains the ability to bind phospholipid membranes). activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.0?(37)|p.?(13)|p.I8_R14>LRLICIF(1)|p.A3fs*14(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) AGATCGTTAGCAGAAACAAAA 0.478000 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 24 21 0 0 1 0 0 NFKBIA 4792 broad.mit.edu 37 14 35872895 35872895 + Splice_Site SNP C C T TCGA-FG-A4MW-01A-11D-A26M-08 TCGA-FG-A4MW-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 599c96ab-fdfb-4322-aea4-4915a5d98975 bf3e7591-0488-4648-b6ce-4630ce883551 g.chr14:35872895C>T ENST00000216797.5 - 2 438 c.e2+1 NFKBIA_ENST00000557389.1_Splice_Site|NFKBIA_ENST00000557140.1_Splice_Site|NFKBIA_ENST00000557100.1_Splice_Site NM_020529.2 NP_065390.1 P25963 IKBA_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha anti-apoptosis|apoptosis|cellular response to cold|cytoplasmic sequestering of NF-kappaB|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of DNA binding|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|I-kappaB/NF-kappaB complex|nucleus|plasma membrane identical protein binding|NF-kappaB binding|nuclear localization sequence binding|ubiquitin protein ligase binding breast(3)|endometrium(1)|large_intestine(2)|liver(1) 7 Breast(36;0.0484)|Hepatocellular(127;0.158) Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891) GBM - Glioblastoma multiforme(112;0.0222) AAGCGGCGCACCTGCTGCAGG 0.567000 4 7 0 0 1 0 0 OR4A16 81327 broad.mit.edu 37 11 55110940 55110940 + Silent SNP C C T TCGA-FG-A4MW-01A-11D-A26M-08 TCGA-FG-A4MW-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 599c96ab-fdfb-4322-aea4-4915a5d98975 bf3e7591-0488-4648-b6ce-4630ce883551 g.chr11:55110940C>T ENST00000314721.2 + 1 314 c.264C>T c.(262-264)atC>atT p.I88I NM_001005274.1 NP_001005274.1 Q8NH70 O4A16_HUMAN olfactory receptor, family 4, subfamily A, member 16 88 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 51 GTGATAAAATCGCTATTTCCT 0.438000 45 76 0 0 1 0 0 NLRC4 58484 broad.mit.edu 37 2 32461395 32461395 + Silent SNP G G A TCGA-FG-A4MW-01A-11D-A26M-08 TCGA-FG-A4MW-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 599c96ab-fdfb-4322-aea4-4915a5d98975 bf3e7591-0488-4648-b6ce-4630ce883551 g.chr2:32461395G>A ENST00000404025.2 - 8 3023 c.2535C>T c.(2533-2535)caC>caT p.H845H NLRC4_ENST00000402280.1_Silent_p.H845H|NLRC4_ENST00000360906.5_Silent_p.H845H|NLRC4_ENST00000342905.6_Silent_p.H180H Q9NPP4 NLRC4_HUMAN NLR family, CARD domain containing 4 845 activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis cytoplasm ATP binding|magnesium ion binding|protein homodimerization activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2) 16 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) TGACCAAATTGTGAAGATTCT 0.303000 6 11 0 0 1 0 0 DDX42 11325 broad.mit.edu 37 17 61864442 61864442 + Silent SNP G G A TCGA-FG-A4MW-01A-11D-A26M-08 TCGA-FG-A4MW-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 599c96ab-fdfb-4322-aea4-4915a5d98975 bf3e7591-0488-4648-b6ce-4630ce883551 g.chr17:61864442G>A ENST00000578681.1 + 3 634 c.33G>A c.(31-33)aaG>aaA p.K11K DDX42_ENST00000389924.2_Silent_p.K11K|DDX42_ENST00000359353.5_Intron|DDX42_ENST00000457800.2_Silent_p.K11K|DDX42_ENST00000583590.1_Silent_p.K11K NM_007372.2 NP_031398.2 Q86XP3 DDX42_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 42 11 protein localization|regulation of anti-apoptosis Cajal body|cytoplasm|nuclear speck ATP binding|ATP-dependent helicase activity|protein binding|RNA binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3) 46 CTGGCACTAAGCGAGGATTTG 0.448000 40 88 0 0 1 0 0 C6 729 broad.mit.edu 37 5 41149449 41149449 + Silent SNP G G A TCGA-FG-A4MW-01A-11D-A26M-08 TCGA-FG-A4MW-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 599c96ab-fdfb-4322-aea4-4915a5d98975 bf3e7591-0488-4648-b6ce-4630ce883551 g.chr5:41149449G>A ENST00000263413.3 - 17 2781 c.2517C>T c.(2515-2517)gaC>gaT p.D839D C6_ENST00000337836.5_Silent_p.D839D NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 839 C5b-binding domain.|Complement control factor I module 1.|Kazal-like 1. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) ACTGGCGGCCGTCTTGGCAGG 0.418000 35 69 0 0 1 0 0 EFCAB3 146779 broad.mit.edu 37 17 60483969 60483969 + Missense_Mutation SNP C C T TCGA-FG-A4MW-01A-11D-A26M-08 TCGA-FG-A4MW-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 599c96ab-fdfb-4322-aea4-4915a5d98975 bf3e7591-0488-4648-b6ce-4630ce883551 g.chr17:60483969C>T ENST00000450662.2 + 9 844 c.773C>T c.(772-774)gCt>gTt p.A258V EFCAB3_ENST00000305286.3_Missense_Mutation_p.A206V NM_001144933.1 NP_001138405.1 Q8N7B9 EFCB3_HUMAN EF-hand calcium binding domain 3 206 calcium ion binding cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3) 17 BRCA - Breast invasive adenocarcinoma(2;2.27e-11) GCTGCCTTTGCTAATGCTGCC 0.428000 18 34 0 0 1 0 0 LCE2A 353139 broad.mit.edu 37 1 152671572 152671572 + Silent SNP C C T rs61812675 TCGA-FG-A4MW-01A-11D-A26M-08 TCGA-FG-A4MW-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 599c96ab-fdfb-4322-aea4-4915a5d98975 bf3e7591-0488-4648-b6ce-4630ce883551 g.chr1:152671572C>T ENST00000368779.1 + 2 246 c.195C>T c.(193-195)ggC>ggT p.G65G NM_178428.3 NP_848515.1 Q5TA79 LCE2A_HUMAN late cornified envelope 2A 65 Cys-rich. keratinization breast(1)|large_intestine(1)|liver(2)|lung(4) 8 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CTGGGGGTGGCGGCTGCTGCC 0.687000 50 76 0 0 1 0 0 TIAM2 26230 broad.mit.edu 37 6 155450785 155450785 + Missense_Mutation SNP G G A TCGA-FG-A4MW-01A-11D-A26M-08 TCGA-FG-A4MW-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 599c96ab-fdfb-4322-aea4-4915a5d98975 bf3e7591-0488-4648-b6ce-4630ce883551 g.chr6:155450785G>A ENST00000461783.3 + 6 1701 c.428G>A c.(427-429)aGg>aAg p.R143K TIAM2_ENST00000318981.5_Missense_Mutation_p.R143K|TIAM2_ENST00000456144.1_Missense_Mutation_p.R143K|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000529824.2_Missense_Mutation_p.R143K|TIAM2_ENST00000360366.4_Missense_Mutation_p.R143K Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 143 apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 65 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) TGCTACGGGAGGAATGAGAGC 0.567000 14 25 0 0 1 0 0 GRIA1 0 broad.mit.edu 37 5 153078545 153078545 + Missense_Mutation SNP G G A TCGA-FG-A4MW-01A-11D-A26M-08 TCGA-FG-A4MW-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 599c96ab-fdfb-4322-aea4-4915a5d98975 bf3e7591-0488-4648-b6ce-4630ce883551 g.chr5:153078545G>A ENST00000285900.5 + 10 1707 c.1364G>A c.(1363-1365)cGt>cAt p.R455H GRIA1_ENST00000518783.1_Missense_Mutation_p.R465H|GRIA1_ENST00000521843.2_Missense_Mutation_p.R386H|GRIA1_ENST00000518142.1_Missense_Mutation_p.R375H|GRIA1_ENST00000448073.4_Missense_Mutation_p.R465H|GRIA1_ENST00000340592.5_Missense_Mutation_p.R455H NM_000827.3|NM_001258019.1 NP_000818.2|NP_001244948.1 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 455 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding p.R455H(1) NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 81 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) TACTCCTACCGTCTGGAGATT 0.542000 12 29 0 0 1 0 0 ANKRD20A11P 0 broad.mit.edu 37 21 15352074 15352074 + RNA SNP C C T TCGA-FG-A4MW-01A-11D-A26M-08 TCGA-FG-A4MW-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 599c96ab-fdfb-4322-aea4-4915a5d98975 bf3e7591-0488-4648-b6ce-4630ce883551 g.chr21:15352074C>T ENST00000344693.5 - 0 684 NR_027270.1 CGCCAGACAGCGCTCCATCTC 0.662000 8 20 0 0 1 0 0 MISP 126353 broad.mit.edu 37 19 757391 757391 + Missense_Mutation SNP G G A TCGA-FG-A4MW-01A-11D-A26M-08 TCGA-FG-A4MW-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 599c96ab-fdfb-4322-aea4-4915a5d98975 bf3e7591-0488-4648-b6ce-4630ce883551 g.chr19:757391G>A ENST00000215582.6 + 2 548 c.445G>A c.(445-447)Ggc>Agc p.G149S NM_173481.2 NP_775752.1 mitotic spindle positioning CGTCATCCAGGGCCAGGCAGT 0.697000 3 9 0 0 1 0 0 ASPN 54829 broad.mit.edu 37 9 95228797 95228797 + Silent SNP G G A TCGA-FG-A4MW-01A-11D-A26M-08 TCGA-FG-A4MW-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 599c96ab-fdfb-4322-aea4-4915a5d98975 bf3e7591-0488-4648-b6ce-4630ce883551 g.chr9:95228797G>A ENST00000375544.3 - 4 687 c.444C>T c.(442-444)acC>acT p.T148T CENPP_ENST00000375587.3_Intron|ASPN_ENST00000375543.1_Silent_p.T148T|ASPN_ENST00000395538.3_Silent_p.T148T NM_017680.4 NP_060150.4 Q9BXN1 ASPN_HUMAN asporin 148 bone mineralization|negative regulation of tooth mineralization|negative regulation of transforming growth factor beta receptor signaling pathway proteinaceous extracellular matrix calcium ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1) 9 ACTTCTTTGTGGTTAGAAAGG 0.373000 34 52 0 0 1 0 0 FLNB 2317 broad.mit.edu 37 3 58080624 58080624 + Silent SNP C C T TCGA-FG-A4MW-01A-11D-A26M-08 TCGA-FG-A4MW-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 599c96ab-fdfb-4322-aea4-4915a5d98975 bf3e7591-0488-4648-b6ce-4630ce883551 g.chr3:58080624C>T ENST00000357272.4 + 5 1014 c.849C>T c.(847-849)agC>agT p.S283S FLNB_ENST00000358537.3_Silent_p.S283S|FLNB_ENST00000348383.5_Silent_p.S283S|FLNB_ENST00000429972.2_Silent_p.S283S|FLNB_ENST00000419752.2_Silent_p.S114S|FLNB_ENST00000493452.1_Silent_p.S114S|FLNB_ENST00000490882.1_Silent_p.S283S|FLNB_ENST00000295956.4_Silent_p.S283S O75369 FLNB_HUMAN filamin B, beta 283 actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5) 120 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) ACACCATCAGCGCCGGGCAAG 0.542000 41 100 0 0 1 0 0 CDH8 1006 broad.mit.edu 37 16 62055202 62055202 + Nonsense_Mutation SNP G G A TCGA-FG-A4MW-01A-11D-A26M-08 TCGA-FG-A4MW-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 599c96ab-fdfb-4322-aea4-4915a5d98975 bf3e7591-0488-4648-b6ce-4630ce883551 g.chr16:62055202G>A ENST00000577390.1 - 2 1060 c.106C>T c.(106-108)Caa>Taa p.Q36* CDH8_ENST00000299345.6_Nonsense_Mutation_p.Q36*|CDH8_ENST00000577730.1_Nonsense_Mutation_p.Q36*|CDH8_ENST00000584337.1_Nonsense_Mutation_p.Q36* NM_001796.4 NP_001787.2 P55286 CADH8_HUMAN cadherin 8, type 2 36 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4) 112 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) ATTAAAACTTGAGACTGATTC 0.428000 8 22 0 0 1 0 0 TIMP2 7077 broad.mit.edu 37 17 76851869 76851869 + Silent SNP C C T TCGA-FG-A4MW-01A-11D-A26M-08 TCGA-FG-A4MW-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 599c96ab-fdfb-4322-aea4-4915a5d98975 bf3e7591-0488-4648-b6ce-4630ce883551 g.chr17:76851869C>T ENST00000262768.7 - 5 841 c.543G>A c.(541-543)aaG>aaA p.K181K TIMP2_ENST00000586057.1_Silent_p.K104K|TIMP2_ENST00000536189.2_Silent_p.K104K|RP11-323N12.5_ENST00000587434.1_RNA|TIMP2_ENST00000585421.1_Silent_p.K104K NM_003255.4 NP_003246.1 P16035 TIMP2_HUMAN TIMP metallopeptidase inhibitor 2 181 metal ion binding|metalloendopeptidase inhibitor activity central_nervous_system(2) 2 BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.194) CGTTGATGTTCTTCTCTGTGA 0.642000 30 52 0 0 1 0 0 PLCG2 5336 broad.mit.edu 37 16 81925184 81925184 + Silent SNP G G A TCGA-FG-A4MW-01A-11D-A26M-08 TCGA-FG-A4MW-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 599c96ab-fdfb-4322-aea4-4915a5d98975 bf3e7591-0488-4648-b6ce-4630ce883551 g.chr16:81925184G>A ENST00000359376.3 + 11 1189 c.975G>A c.(973-975)tcG>tcA p.S325S NM_002661.3 NP_002652.2 P16885 PLCG2_HUMAN phospholipase C, gamma 2 (phosphatidylinositol-specific) 325 PI-PLC X-box. intracellular signal transduction|phospholipid catabolic process|platelet activation plasma membrane phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 58 GGATCTCCTCGTCACATAACA 0.552000 5 9 0 0 1 0 0 WFS1 7466 broad.mit.edu 37 4 6304060 6304060 + Silent SNP C C T TCGA-FG-A4MW-01A-11D-A26M-08 TCGA-FG-A4MW-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 599c96ab-fdfb-4322-aea4-4915a5d98975 bf3e7591-0488-4648-b6ce-4630ce883551 g.chr4:6304060C>T ENST00000226760.1 + 8 2708 c.2538C>T c.(2536-2538)agC>agT p.S846S WFS1_ENST00000503569.1_Silent_p.S846S NM_001145853.1|NM_006005.3 NP_001139325.1|NP_005996.2 O76024 WFS1_HUMAN Wolfram syndrome 1 (wolframin) 846 endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception dendrite|integral to endoplasmic reticulum membrane activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 21 Colorectal(103;0.0512) AGGCCATCAGCTGCCTCAACT 0.652000 17 35 0 0 1 0 0 SYT9 143425 broad.mit.edu 37 11 7324401 7324401 + Missense_Mutation SNP G G C TCGA-FG-A4MW-01A-11D-A26M-08 TCGA-FG-A4MW-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 599c96ab-fdfb-4322-aea4-4915a5d98975 bf3e7591-0488-4648-b6ce-4630ce883551 g.chr11:7324401G>C ENST00000318881.6 + 2 514 c.277G>C c.(277-279)Gac>Cac p.D93H SYT9_ENST00000396716.2_Missense_Mutation_p.D61H NM_175733.3 NP_783860.1 Q86SS6 SYT9_HUMAN synaptotagmin IX 93 cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 38 Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949) TGGTAGCAAAGACAACAACCA 0.562000 33 72 0 0 1 0 0 ADAMTS15 170689 broad.mit.edu 37 11 130343421 130343421 + Missense_Mutation SNP C C T TCGA-FG-A4MW-01A-11D-A26M-08 TCGA-FG-A4MW-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 599c96ab-fdfb-4322-aea4-4915a5d98975 bf3e7591-0488-4648-b6ce-4630ce883551 g.chr11:130343421C>T ENST00000299164.2 + 8 2558 c.2558C>T c.(2557-2559)gCg>gTg p.A853V NM_139055.2 NP_620686.1 Q8TE58 ATS15_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 15 853 TSP type-1 2. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1) 36 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215) CCGTGCTCCGCGAGCTGCGGC 0.726000 17 38 0 0 1 0 0 HHIP 64399 broad.mit.edu 37 4 145579961 145579961 + Silent SNP G G A rs146735069 TCGA-FG-A4MW-01A-11D-A26M-08 TCGA-FG-A4MW-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 599c96ab-fdfb-4322-aea4-4915a5d98975 bf3e7591-0488-4648-b6ce-4630ce883551 g.chr4:145579961G>A ENST00000296575.3 + 3 1147 c.492G>A c.(490-492)gcG>gcA p.A164A HHIP_ENST00000511314.1_3'UTR|HHIP-AS1_ENST00000512359.1_RNA|HHIP_ENST00000434550.2_Silent_p.A164A NM_022475.2 NP_071920.1 Q96QV1 HHIP_HUMAN hedgehog interacting protein 164 cytoplasm|extracellular region catalytic activity|protein binding|zinc ion binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 33 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0185) AAACAACTGCGGATGAGTTTT 0.358000 10 35 0 0 1 0 0 FOXN1 8456 broad.mit.edu 37 17 26864332 26864332 + Missense_Mutation SNP G G C TCGA-FG-A4MW-01A-11D-A26M-08 TCGA-FG-A4MW-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 599c96ab-fdfb-4322-aea4-4915a5d98975 bf3e7591-0488-4648-b6ce-4630ce883551 g.chr17:26864332G>C ENST00000226247.2 + 8 1854 c.1825G>C c.(1825-1827)Ggt>Cgt p.G609R FOXN1_ENST00000579795.1_Missense_Mutation_p.G609R NM_003593.2 NP_003584.2 O15353 FOXN1_HUMAN forkhead box N1 609 defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Lung NSC(42;0.00431) CGGGGCACTGGGTGACCTGCA 0.687000 17 31 0 0 1 0 0 SERPINA3 12 broad.mit.edu 37 14 95090030 95090030 + Missense_Mutation SNP C C T TCGA-FG-A4MW-01A-11D-A26M-08 TCGA-FG-A4MW-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 599c96ab-fdfb-4322-aea4-4915a5d98975 bf3e7591-0488-4648-b6ce-4630ce883551 g.chr14:95090030C>T ENST00000553947.1 + 8 2114 c.1226C>T c.(1225-1227)tCt>tTt p.S409F SERPINA3_ENST00000482740.1_Missense_Mutation_p.S166F|SERPINA3_ENST00000393080.4_Missense_Mutation_p.S384F|SERPINA3_ENST00000393078.3_Missense_Mutation_p.S384F|SERPINA3_ENST00000467132.1_Missense_Mutation_p.S384F P01011 AACT_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 384 acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis extracellular region|nucleus DNA binding|protein binding|serine-type endopeptidase inhibitor activity NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1) 40 all_cancers(154;0.0525)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228) ACCCTCCTTTCTGCATTAGTG 0.498000 33 54 0 0 1 0 0 OR7C2 26658 broad.mit.edu 37 19 15052351 15052351 + Silent SNP C C T TCGA-FG-A4MW-01A-11D-A26M-08 TCGA-FG-A4MW-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 599c96ab-fdfb-4322-aea4-4915a5d98975 bf3e7591-0488-4648-b6ce-4630ce883551 g.chr19:15052351C>T ENST00000248072.3 + 1 51 c.51C>T c.(49-51)ttC>ttT p.F17F NM_012377.1 NP_036509.1 O60412 OR7C2_HUMAN olfactory receptor, family 7, subfamily C, member 2 17 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|lung(8)|ovary(2)|skin(2) 15 Ovarian(108;0.203) TCCTGGGATTCGCAGAGGACT 0.498000 26 82 0 0 1 0 0 CDK14 5218 broad.mit.edu 37 7 90377064 90377064 + Silent SNP T T C TCGA-FG-A4MW-01A-11D-A26M-08 TCGA-FG-A4MW-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 599c96ab-fdfb-4322-aea4-4915a5d98975 bf3e7591-0488-4648-b6ce-4630ce883551 g.chr7:90377064T>C ENST00000406263.1 + 3 742 c.300T>C c.(298-300)taT>taC p.Y100Y CDK14_ENST00000436577.2_Intron|CDK14_ENST00000380050.3_Silent_p.Y146Y|CDK14_ENST00000265741.3_Silent_p.Y128Y O94921 CDK14_HUMAN cyclin-dependent kinase 14 146 cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane ATP binding|cyclin binding|cyclin-dependent protein kinase activity breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4) 32 AAGGATCTTATGCTACAGTAT 0.338000 17 58 0 0 1 0 0 EGFR 1956 broad.mit.edu 37 7 55223567 55223567 + Missense_Mutation SNP G G T TCGA-FG-A4MW-01A-11D-A26M-08 TCGA-FG-A4MW-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 599c96ab-fdfb-4322-aea4-4915a5d98975 bf3e7591-0488-4648-b6ce-4630ce883551 g.chr7:55223567G>T ENST00000275493.2 + 8 1111 c.934G>T c.(934-936)Ggg>Tgg p.G312W EGFR_ENST00000442591.1_Missense_Mutation_p.G312W|EGFR_ENST00000342916.3_Missense_Mutation_p.G312W|EGFR_ENST00000344576.2_Missense_Mutation_p.G312W|EGFR_ENST00000454757.2_Missense_Mutation_p.G259W|EGFR_ENST00000420316.2_Missense_Mutation_p.G312W|EGFR_ENST00000455089.1_Missense_Mutation_p.G267W NM_005228.3 NP_005219.2 P00533 EGFR_HUMAN epidermal growth factor receptor 312 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) CCGAGCCTGTGGGGCCGACAG 0.607000 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 3323 325 0 0 1 1 0 SEC11C 90701 broad.mit.edu 37 18 56816768 56816768 + Silent SNP C C T TCGA-FG-A4MW-01A-11D-A26M-08 TCGA-FG-A4MW-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 599c96ab-fdfb-4322-aea4-4915a5d98975 bf3e7591-0488-4648-b6ce-4630ce883551 g.chr18:56816768C>T ENST00000587834.1 + 2 583 c.111C>T c.(109-111)ttC>ttT p.F37F SEC11C_ENST00000588875.1_Silent_p.F37F NM_033280.2 NP_150596.1 Q9BY50 SC11C_HUMAN SEC11 homolog C (S. cerevisiae) 37 energy reserve metabolic process|regulation of insulin secretion|signal peptide processing endoplasmic reticulum membrane|integral to membrane|microsome serine-type peptidase activity endometrium(1)|large_intestine(4)|liver(2)|lung(2) 9 Colorectal(73;0.175) TTTTAAACTTCGCCATGATCG 0.493000 32 59 0 0 1 0 0 TLN2 83660 broad.mit.edu 37 15 63032969 63032969 + Splice_Site SNP G G A TCGA-FG-A4MW-01A-11D-A26M-08 TCGA-FG-A4MW-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 599c96ab-fdfb-4322-aea4-4915a5d98975 bf3e7591-0488-4648-b6ce-4630ce883551 g.chr15:63032969G>A ENST00000561311.1 + 31 4255 c.e31+1 TLN2_ENST00000306829.6_Splice_Site Q9Y4G6 TLN2_HUMAN talin 2 cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5) 99 CAGCTGCAAGGTAGGAGTGGG 0.493000 11 11 0 0 1 0 0 ATP8B3 148229 broad.mit.edu 37 19 1785489 1785489 + Silent SNP G G A TCGA-FG-A4MW-01A-11D-A26M-08 TCGA-FG-A4MW-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 599c96ab-fdfb-4322-aea4-4915a5d98975 bf3e7591-0488-4648-b6ce-4630ce883551 g.chr19:1785489G>A ENST00000539485.1 - 26 3635 c.3402C>T c.(3400-3402)tgC>tgT p.C1134C ATP8B3_ENST00000310127.6_Silent_p.C1124C|ATP8B3_ENST00000525591.1_Silent_p.C1087C O60423 AT8B3_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 3 1124 ATP biosynthetic process ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 23 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TGGACAGCAGGCAAGACAGGG 0.647000 6 30 0 0 1 0 0 STOML1 9399 broad.mit.edu 37 15 74281475 74281475 + Nonsense_Mutation SNP G G A TCGA-FG-A4MW-01A-11D-A26M-08 TCGA-FG-A4MW-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 599c96ab-fdfb-4322-aea4-4915a5d98975 bf3e7591-0488-4648-b6ce-4630ce883551 g.chr15:74281475G>A ENST00000316900.5 - 3 488 c.364C>T c.(364-366)Cga>Tga p.R122* STOML1_ENST00000541638.1_Nonsense_Mutation_p.R80*|STOML1_ENST00000359750.4_Nonsense_Mutation_p.R122*|STOML1_ENST00000564777.1_Intron|STOML1_ENST00000316911.6_Intron|STOML1_ENST00000561656.1_Nonsense_Mutation_p.R35* NM_001256672.1|NM_001256675.1|NM_001256677.1|NM_004809.4 NP_001243601.1|NP_001243604.1|NP_001243606.1|NP_004800.2 Q9UBI4 STML1_HUMAN stomatin (EPB72)-like 1 122 integral to membrane sterol binding endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1) 8 TTGAAGGCTCGTGTCCTCAGA 0.602000 3 22 0 0 1 0 0 HSD17B2 3294 broad.mit.edu 37 16 82104638 82104638 + Silent SNP C C T TCGA-FG-A4MW-01A-11D-A26M-08 TCGA-FG-A4MW-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 599c96ab-fdfb-4322-aea4-4915a5d98975 bf3e7591-0488-4648-b6ce-4630ce883551 g.chr16:82104638C>T ENST00000199936.4 + 3 763 c.570C>T c.(568-570)gcC>gcT p.A190A RP11-510J16.5_ENST00000567021.1_RNA NM_002153.2 NP_002144.1 P37059 DHB2_HUMAN hydroxysteroid (17-beta) dehydrogenase 2 190 response to retinoic acid|steroid biosynthetic process endoplasmic reticulum membrane|integral to membrane 17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1) 10 NADH(DB00157) AATGCATGGCCGTGAACTTCT 0.488000 16 40 0 0 1 0 0 ZBTB40 9923 broad.mit.edu 37 1 22852748 22852748 + Silent SNP G G A TCGA-FG-A4MW-01A-11D-A26M-08 TCGA-FG-A4MW-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 599c96ab-fdfb-4322-aea4-4915a5d98975 bf3e7591-0488-4648-b6ce-4630ce883551 g.chr1:22852748G>A ENST00000404138.1 + 19 4090 c.3579G>A c.(3577-3579)gaG>gaA p.E1193E ZBTB40_ENST00000374651.4_Silent_p.E1081E|ZBTB40_ENST00000375647.4_Silent_p.E1193E NM_001083621.1 NP_001077090.1 Q9NUA8 ZBT40_HUMAN zinc finger and BTB domain containing 40 1193 bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216) TCACTTTGGAGGAGACCCAGC 0.592000 15 64 0 0 1 0 0 ZC3H11A 9877 broad.mit.edu 37 1 203818970 203818971 + Frame_Shift_Ins INS - - G TCGA-FG-A4MW-01A-11D-A26M-08 TCGA-FG-A4MW-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 599c96ab-fdfb-4322-aea4-4915a5d98975 bf3e7591-0488-4648-b6ce-4630ce883551 g.chr1:203818970_203818971insG ENST00000545588.1 + 14 5582_5583 c.1755_1756insG c.(1753-1758)gtcctcfs p.L586fs ZC3H11A_ENST00000367210.1_Frame_Shift_Ins_p.L586fs|ZC3H11A_ENST00000367212.3_Frame_Shift_Ins_p.L586fs|ZC3H11A_ENST00000367214.1_Frame_Shift_Ins_p.L586fs|ZC3H11A_ENST00000332127.4_Frame_Shift_Ins_p.L586fs NM_001271675.1 NP_001258604.1 O75152 ZC11A_HUMAN zinc finger CCCH-type containing 11A 586 nucleic acid binding|protein binding|zinc ion binding central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 32 all_cancers(21;0.0904)|all_epithelial(62;0.234) BRCA - Breast invasive adenocarcinoma(75;0.109) GGGGAGATGTAGCCTCTTGCAA 0.500 16 44 --- --- --- --- SAP130 79595 broad.mit.edu 37 2 128707774 128707776 + In_Frame_Del DEL CAC CAC - TCGA-FG-A4MW-01A-11D-A26M-08 TCGA-FG-A4MW-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 599c96ab-fdfb-4322-aea4-4915a5d98975 bf3e7591-0488-4648-b6ce-4630ce883551 g.chr2:128707774_128707776delCAC ENST00000357702.5 - 17 2838_2840 c.2707_2709delGTG c.(2707-2709)del p.V903del SAP130_ENST00000259235.3_In_Frame_Del_p.V868del|SAP130_ENST00000259234.6_In_Frame_Del_p.V876del NM_001145928.1 NP_001139400.1 Q9H0E3 SP130_HUMAN Sin3A-associated protein, 130kDa 868 Interactions with SIN3A and HDAC1. histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent STAGA complex transcription coactivator activity NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2) 45 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0771) TCTCAGCCTTCACCAGAAGACTC 0.468 34 73 --- --- --- --- AADACL2 344752 broad.mit.edu 37 3 151475059 151475062 + Frame_Shift_Del DEL TATG TATG - TCGA-FG-A4MW-01A-11D-A26M-08 TCGA-FG-A4MW-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 599c96ab-fdfb-4322-aea4-4915a5d98975 bf3e7591-0488-4648-b6ce-4630ce883551 g.chr3:151475059_151475062delTATG ENST00000356517.3 + 5 992_995 c.883_886delTATG c.(883-888)tafs p.YV295fs RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA NM_207365.3 NP_997248.2 Q6P093 ADCL2_HUMAN arylacetamide deacetylase-like 2 295 extracellular region|integral to membrane carboxylesterase activity NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2) 24 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813) TAGAAAAGACTATGTATATACTGA 0.397 16 38 --- --- --- --- PRUNE2 158471 broad.mit.edu 37 9 79318755 79318758 + Frame_Shift_Del DEL CTAA CTAA - TCGA-FG-A4MW-01A-11D-A26M-08 TCGA-FG-A4MW-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 599c96ab-fdfb-4322-aea4-4915a5d98975 bf3e7591-0488-4648-b6ce-4630ce883551 g.chr9:79318755_79318758delCTAA ENST00000428286.1 - 9 7894_7897 c.6694_6697delTTAG c.(6694-6699)cafs p.LA2232fs PRUNE2_ENST00000376718.3_Frame_Shift_Del_p.LA2591fs Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 2591 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 GGGAAGCTTGCTAACTGAGTTCCC 0.417 14 44 --- --- --- --- CCDC87 55231 broad.mit.edu 37 11 66358631 66358633 + In_Frame_Del DEL TCT TCT - TCGA-FG-A4MW-01A-11D-A26M-08 TCGA-FG-A4MW-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 599c96ab-fdfb-4322-aea4-4915a5d98975 bf3e7591-0488-4648-b6ce-4630ce883551 g.chr11:66358631_66358633delTCT ENST00000333861.3 - 1 1921_1923 c.1854_1856delAGA c.(1852-1857)gag>ga p.EE618del NM_018219.2 NP_060689.2 Q9NVE4 CCD87_HUMAN coiled-coil domain containing 87 618 central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 CACAGGAACCTCTTCTTCATGCA 0.473 21 60 --- --- --- --- PRX 57716 broad.mit.edu 37 19 40900042 40900043 + Frame_Shift_Del DEL TT TT - TCGA-FG-A4MW-01A-11D-A26M-08 TCGA-FG-A4MW-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 599c96ab-fdfb-4322-aea4-4915a5d98975 bf3e7591-0488-4648-b6ce-4630ce883551 g.chr19:40900042_40900043delTT ENST00000324001.7 - 7 4486_4487 c.4216_4217delAA c.(4216-4218)gfs p.K1406fs PRX_ENST00000291825.7_3'UTR NM_181882.2 NP_870998.2 Q9BXM0 PRAX_HUMAN periaxin 1406 axon ensheathment cytoplasm|nucleus|plasma membrane protein binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9) 47 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) CTTGGGTGACTTCTCTCTGACG 0.688 39 130 --- --- --- --- CUL4B 8450 broad.mit.edu 37 X 119678463 119678465 + In_Frame_Del DEL ATA ATA - rs144312827 TCGA-FG-A4MW-01A-11D-A26M-08 TCGA-FG-A4MW-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 599c96ab-fdfb-4322-aea4-4915a5d98975 bf3e7591-0488-4648-b6ce-4630ce883551 g.chrX:119678463_119678465delATA ENST00000371322.5 - 6 1015_1017 c.954_956delTAT c.(952-957)ata>at p.II318del CUL4B_ENST00000336592.6_In_Frame_Del_p.II323del|CUL4B_ENST00000404115.3_In_Frame_Del_p.II336del NM_001079872.1 NP_001073341.1 Q13620 CUL4B_HUMAN cullin 4B 336 cell cycle|DNA repair|ubiquitin-dependent protein catabolic process Cul4B-RING ubiquitin ligase complex|nucleus protein binding|ubiquitin protein ligase binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 CTGATCACTTATAATATGAGCCC 0.350 5 8 --- --- --- ---