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 validation_method t_ref_count validation_status validation_tumor_sample t_alt_count validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut PCDHGC5 56097 broad.mit.edu 37 5 140750027 140750027 + Silent SNP C G G TCGA-FS-A1ZG-06A-11D-A197-08 TCGA-FS-A1ZG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12d3df2b-80aa-46ac-8a04-e7b0e9c45ff2 98ec11e7-b2e4-4c0f-9821-2440389ef54e g.chr5:140750027C>G uc003ljw.2 + 0 66 c.66C>G c.(64-66)ctC>ctG p.L22L PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc011dat.2_Silent_p.L22L NM_018924 NP_061747 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily B, 3 (PCDHGB3), transcript variant 1, mRNA. 0 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCTTCCTGCTCTCTTTGTTAG 0.587000 22 4 0 0 2.56e-06 0 0 CSH1 1442 broad.mit.edu 37 17 61972893 61972893 + Silent SNP C T T TCGA-FS-A1ZG-06A-11D-A197-08 TCGA-FS-A1ZG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12d3df2b-80aa-46ac-8a04-e7b0e9c45ff2 98ec11e7-b2e4-4c0f-9821-2440389ef54e g.chr17:61972893C>T uc002jcs.2 - 3 546 c.396G>A c.(394-396)tcG>tcA p.S132S NM_001317 NP_001308 P01243 CSH_HUMAN Homo sapiens chorionic somatomammotropin hormone 1 (placental lactogen) (CSH1), mRNA. 132 female pregnancy|signal transduction extracellular region hormone activity|metal ion binding p.S132S(2) central_nervous_system(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1) 8 CATCGCTGTCCGAGGTGTCAT 0.592000 Russell-Silver syndrome 10 8 0 0 6.40141e-05 0 0 DHX30 22907 broad.mit.edu 37 3 47882497 47882497 + Missense_Mutation SNP G A A TCGA-FS-A1ZG-06A-11D-A197-08 TCGA-FS-A1ZG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12d3df2b-80aa-46ac-8a04-e7b0e9c45ff2 98ec11e7-b2e4-4c0f-9821-2440389ef54e g.chr3:47882497G>A uc003cru.3 + 6 923 c.497G>A c.(496-498)cGg>cAg p.R166Q DHX30_uc003crs.2_Missense_Mutation_p.R127Q|DHX30_uc003crt.3_Missense_Mutation_p.R127Q|DHX30_uc010hjr.1_Missense_Mutation_p.R194Q NM_138615 NP_619520 Q7L2E3 DHX30_HUMAN Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 30 (DHX30), transcript variant 1, mRNA. 166 mitochondrial nucleoid ATP binding|ATP-dependent helicase activity|RNA binding|protein binding endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3) 37 BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007) ACTTCCTGGCGGCAGCTGAAT 0.597000 8 5 0 0 1.23904e-05 0 0 SLC22A12 116085 broad.mit.edu 37 11 64366364 64366364 + Missense_Mutation SNP C A A TCGA-FS-A1ZG-06A-11D-A197-08 TCGA-FS-A1ZG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12d3df2b-80aa-46ac-8a04-e7b0e9c45ff2 98ec11e7-b2e4-4c0f-9821-2440389ef54e g.chr11:64366364C>A uc001oam.1 + 5 1786 c.1039C>A c.(1039-1041)Cgc>Agc p.R347S SLC22A12_uc009ypr.1_Missense_Mutation_p.R372S|SLC22A12_uc001oal.1_Missense_Mutation_p.R126S|SLC22A12_uc009yps.1_Missense_Mutation_p.R313S|SLC22A12_uc001oan.1_Missense_Mutation_p.R239S|SLC22A12_uc009ypt.3_Missense_Mutation_p.R165S NM_144585 NP_700357 Q96S37 S22AC_HUMAN Homo sapiens solute carrier family 22 (organic anion/urate transporter), member 12 (SLC22A12), transcript variant 1, mRNA. 347 cellular homeostasis|response to drug|urate metabolic process apical plasma membrane|brush border membrane|integral to membrane PDZ domain binding|urate transmembrane transporter activity central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 27 GCCCGGACTGCGCTTCCGGAC 0.667000 12 10 6.40141e-05 0.0046469 6.40141e-05 1 0 TUBB3 10381 broad.mit.edu 37 16 89985811 89985811 + Missense_Mutation SNP G C C TCGA-FS-A1ZG-06A-11D-A197-08 TCGA-FS-A1ZG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12d3df2b-80aa-46ac-8a04-e7b0e9c45ff2 98ec11e7-b2e4-4c0f-9821-2440389ef54e g.chr16:89985811G>C uc002fpf.2 + 0 553 c.145G>C c.(145-147)Ggg>Cgg p.G49R TUBB3_uc002fpe.4_Missense_Mutation_p.G49R|TUBB3_uc010ciz.1_5'Flank NM_006086 NP_006077 Q13509 TBB3_HUMAN Homo sapiens tubulin, beta 3 class III (TUBB3), transcript variant 1, mRNA. 0 'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 17 all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0273) CCTCAGCCTGGGGCTGGTGAG 0.647000 18 3 0 0 6.4e-05 0 0 NMRAL1 57407 broad.mit.edu 37 16 4511935 4511935 + Missense_Mutation SNP A G G TCGA-FS-A1ZG-06A-11D-A197-08 TCGA-FS-A1ZG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12d3df2b-80aa-46ac-8a04-e7b0e9c45ff2 98ec11e7-b2e4-4c0f-9821-2440389ef54e g.chr16:4511935A>G uc002cwm.3 - 5 902 c.746T>C c.(745-747)cTt>cCt p.L249P NMRAL1_uc002cwn.3_Missense_Mutation_p.L249P|NMRAL1_uc002cwo.3_Missense_Mutation_p.L249P NM_020677 NP_065728 Q9HBL8 NMRL1_HUMAN Homo sapiens NmrA-like family domain containing 1 (NMRAL1), mRNA. 249 nucleus|perinuclear region of cytoplasm binding breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|prostate(2)|stomach(1) 15 GGGAAAGCCAAGCTTTTCGTA 0.647000 29 27 0 0 0.000147802 0 0 MBTD1 54799 broad.mit.edu 37 17 49270312 49270312 + Silent SNP A G G TCGA-FS-A1ZG-06A-11D-A197-08 TCGA-FS-A1ZG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12d3df2b-80aa-46ac-8a04-e7b0e9c45ff2 98ec11e7-b2e4-4c0f-9821-2440389ef54e g.chr17:49270312A>G uc002itr.4 - 14 1865 c.1521T>C c.(1519-1521)cgT>cgC p.R507R MBTD1_uc002itp.4_Silent_p.R343R|MBTD1_uc002itq.4_3'UTR NM_017643 NP_060113 Q05BQ5 MBTD1_HUMAN Homo sapiens mbt domain containing 1 (MBTD1), mRNA. 507 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)|urinary_tract(1) 12 BRCA - Breast invasive adenocarcinoma(22;1.54e-08) CACATATTAAACGTGGCTCCA 0.388000 67 48 0 0 0.000147903 0 0 TNC 3371 broad.mit.edu 37 9 117808817 117808817 + Missense_Mutation SNP A C C TCGA-FS-A1ZG-06A-11D-A197-08 TCGA-FS-A1ZG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12d3df2b-80aa-46ac-8a04-e7b0e9c45ff2 98ec11e7-b2e4-4c0f-9821-2440389ef54e g.chr9:117808817A>C uc004bjj.4 - 16 5409 c.4997T>G c.(4996-4998)aTa>aGa p.I1666R TNC_uc010mvf.3_Intron|TNC_uc022bmj.1_Missense_Mutation_p.I1303R NM_002160 NP_002151 P24821 TENA_HUMAN Homo sapiens tenascin C (TNC), mRNA. 1666 Fibronectin type-III 12. cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 120 AAGTAGGGTTATTTCCAGTGG 0.473000 58 4 0 0 2.56e-06 0 0 TBC1D8B 54885 broad.mit.edu 37 X 106109035 106109035 + Missense_Mutation SNP T G G TCGA-FS-A1ZG-06A-11D-A197-08 TCGA-FS-A1ZG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12d3df2b-80aa-46ac-8a04-e7b0e9c45ff2 98ec11e7-b2e4-4c0f-9821-2440389ef54e g.chrX:106109035T>G uc004emo.3 + 15 2599 c.2434T>G c.(2434-2436)Tta>Gta p.L812V MORC4_uc004emp.4_Intron NM_017752 NP_060222 Q0IIM8 TBC8B_HUMAN Homo sapiens TBC1 domain family, member 8B (with GRAM domain) (TBC1D8B), transcript variant 1, mRNA. 812 intracellular Rab GTPase activator activity|calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 AGAGCTGTTTTTATCTTGTTA 0.328000 67 47 0 0 0.000125731 0 0 STK38 11329 broad.mit.edu 37 6 36467713 36467713 + Missense_Mutation SNP T C C TCGA-FS-A1ZG-06A-11D-A197-08 TCGA-FS-A1ZG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12d3df2b-80aa-46ac-8a04-e7b0e9c45ff2 98ec11e7-b2e4-4c0f-9821-2440389ef54e g.chr6:36467713T>C uc003omg.3 - 8 1477 c.889A>G c.(889-891)Acc>Gcc p.T297A STK38_uc003omh.3_Missense_Mutation_p.T297A|STK38_uc003omi.3_Missense_Mutation_p.T297A NM_007271 NP_009202 Q15208 STK38_HUMAN Homo sapiens serine/threonine kinase 38 (STK38), mRNA. 297 Protein kinase. intracellular protein kinase cascade|negative regulation of MAP kinase activity MLL5-L complex|cytoplasm ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity p.Q296L(1) NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 TTGTACCCGGTCTGCATGAAC 0.522000 62 7 0 0 8.12818e-05 0 0 UBIAD1 29914 broad.mit.edu 37 1 11333715 11333715 + Missense_Mutation SNP A G G TCGA-FS-A1ZG-06A-11D-A197-08 TCGA-FS-A1ZG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12d3df2b-80aa-46ac-8a04-e7b0e9c45ff2 98ec11e7-b2e4-4c0f-9821-2440389ef54e g.chr1:11333715A>G uc001asg.3 + 0 461 c.127A>G c.(127-129)Agg>Ggg p.R43G NM_013319 NP_037451 Q9Y5Z9 UBIA1_HUMAN Homo sapiens UbiA prenyltransferase domain containing 1 (UBIAD1), mRNA. 43 menaquinone biosynthetic process endoplasmic reticulum membrane|integral to membrane|mitochondrion|nucleus prenyltransferase activity endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(3) 12 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487) GCGCTCCTGGAGGCAGAAGTG 0.622000 13 8 0 0 5.18039e-06 0 0 GHR 2690 broad.mit.edu 37 5 42718721 42718721 + Missense_Mutation SNP A C C TCGA-FS-A1ZG-06A-11D-A197-08 TCGA-FS-A1ZG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12d3df2b-80aa-46ac-8a04-e7b0e9c45ff2 98ec11e7-b2e4-4c0f-9821-2440389ef54e g.chr5:42718721A>C uc021xxv.1 + 9 1270 c.1133A>C c.(1132-1134)gAg>gCg p.E378A GHR_uc003jmt.3_Missense_Mutation_p.E371A|GHR_uc003jmu.3_Missense_Mutation_p.E371A|GHR_uc003jmv.2_Missense_Mutation_p.E371A|GHR_uc021xxw.1_Missense_Mutation_p.E371A|GHR_uc021xxx.1_Missense_Mutation_p.E371A|GHR_uc021xxy.1_Missense_Mutation_p.E371A|GHR_uc021xxz.1_Missense_Mutation_p.E371A|GHR_uc021xya.1_Missense_Mutation_p.E371A|GHR_uc021xyb.1_3'UTR|GHR_uc021xyc.1_3'UTR|GHR_uc011cpq.2_Missense_Mutation_p.E184A|GHR_uc021xyd.1_Missense_Mutation_p.E349A NM_001242399 NP_001229328 P10912 GHR_HUMAN Homo sapiens growth hormone receptor (GHR), transcript variant 2, mRNA. 371 2-oxoglutarate metabolic process|JAK-STAT cascade|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Myeloproliferative disorder(839;0.00878) Pegvisomant(DB00082)|Somatropin recombinant(DB00052) AGTGACCATGAGAAATCACAT 0.433000 6 36 0 0 7.24521e-05 0 0 FKBP9 11328 broad.mit.edu 37 7 33042361 33042361 + Silent SNP G A A TCGA-FS-A1ZG-06A-11D-A197-08 TCGA-FS-A1ZG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12d3df2b-80aa-46ac-8a04-e7b0e9c45ff2 98ec11e7-b2e4-4c0f-9821-2440389ef54e g.chr7:33042361G>A uc011kal.2 + 9 1786 c.1605G>A c.(1603-1605)gaG>gaA p.E535E AVL9_uc011kai.2_Intron|FKBP9_uc011kak.1_Non-coding_Transcript|FKBP9_uc003tdh.3_Silent_p.E482E|FKBP9_uc011kam.2_Silent_p.E250E|U6_uc022abn.1_5'Flank NM_007270 NP_009201 O95302 FKBP9_HUMAN Homo sapiens FK506 binding protein 9, 63 kDa (FKBP9), mRNA. 482 EF-hand 2. protein folding endoplasmic reticulum|membrane FK506 binding|calcium ion binding|peptidyl-prolyl cis-trans isomerase activity central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1) 39 GBM - Glioblastoma multiforme(11;0.0156) GCCTTCCTGAGGGGTACATGT 0.532000 3 16 0 0 3.45872e-05 0 0 ZBTB1 22890 broad.mit.edu 37 14 64988483 64988483 + Silent SNP T A A TCGA-FS-A1ZG-06A-11D-A197-08 TCGA-FS-A1ZG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12d3df2b-80aa-46ac-8a04-e7b0e9c45ff2 98ec11e7-b2e4-4c0f-9821-2440389ef54e g.chr14:64988483T>A uc021rul.1 + 0 261 c.261T>A c.(259-261)atT>atA p.I87I ZBTB1_uc001xhh.4_Silent_p.I87I|ZBTB1_uc010aqg.3_Silent_p.I87I|ZBTB1_uc001xhi.2_Silent_p.I87I|ZBTB1_uc021rum.1_5'Flank NM_001123329 NP_001116801 Q9Y2K1 ZBTB1_HUMAN Homo sapiens zinc finger and BTB domain containing 1 (ZBTB1), transcript variant 1, mRNA. 87 BTB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1) 13 all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294) UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012) TAGGAAAAATTATGACAGCTC 0.373000 43 22 0 0 2.27731e-05 0 0 CXXC1 30827 broad.mit.edu 37 18 47812187 47812187 + Nonsense_Mutation SNP T A A TCGA-FS-A1ZG-06A-11D-A197-08 TCGA-FS-A1ZG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12d3df2b-80aa-46ac-8a04-e7b0e9c45ff2 98ec11e7-b2e4-4c0f-9821-2440389ef54e g.chr18:47812187T>A uc002leq.4 - 4 1304 c.571A>T c.(571-573)Aag>Tag p.K191* CXXC1_uc002lep.4_Nonsense_Mutation_p.K48*|CXXC1_uc002ler.4_Nonsense_Mutation_p.K191*|CXXC1_uc010doy.3_Nonsense_Mutation_p.K191* NM_014593 NP_055408 Q9P0U4 CXXC1_HUMAN Homo sapiens CXXC finger protein 1 (CXXC1), transcript variant 2, mRNA. 191 histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent Set1C/COMPASS complex|nuclear speck protein binding|unmethylated CpG binding|zinc ion binding p.M190I(1) autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 24 CCGAACTTCTTCATGTCCCGA 0.622000 18 15 0 0 5.01169e-05 0 0 L3MBTL4 91133 broad.mit.edu 37 18 5969390 5969390 + Splice_Site SNP A G G TCGA-FS-A1ZG-06A-11D-A197-08 TCGA-FS-A1ZG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12d3df2b-80aa-46ac-8a04-e7b0e9c45ff2 98ec11e7-b2e4-4c0f-9821-2440389ef54e g.chr18:5969390A>G uc002kmz.4 - 18 1801 c.1641_splice c.e18+1 p.E547_splice L3MBTL4_uc002kmy.4_Splice_Site_p.E538_splice|L3MBTL4_uc010dkt.3_Splice_Site_p.E547_splice NM_173464 NP_775735 Q8NA19 LMBL4_HUMAN Homo sapiens l(3)mbt-like 4 (Drosophila) (L3MBTL4), mRNA. 547 SAM. chromatin modification nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 Colorectal(10;0.0249) AGCTCCACTCACCTCATCCAC 0.622000 37 4 0 0 3.59834e-05 0 0 TMEM86B 255043 broad.mit.edu 37 19 55739565 55739565 + Missense_Mutation SNP C T T TCGA-FS-A1ZG-06A-11D-A197-08 TCGA-FS-A1ZG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12d3df2b-80aa-46ac-8a04-e7b0e9c45ff2 98ec11e7-b2e4-4c0f-9821-2440389ef54e g.chr19:55739565C>T uc002qju.3 - 1 815 c.292G>A c.(292-294)Gtc>Atc p.V98I TMEM86B_uc002qjt.3_Missense_Mutation_p.V97I NM_173804 NP_776165 Q8N661 TM86B_HUMAN Homo sapiens transmembrane protein 86B (TMEM86B), mRNA. 98 ether lipid metabolic process cytoplasmic part|integral to membrane alkenylglycerophosphocholine hydrolase activity|alkenylglycerophosphoethanolamine hydrolase activity skin(2) 2 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0443) TCACCAGGGACGAAGGCTGCC 0.652000 8 8 0 0 2.17888e-05 0 0 CROCCP2 84809 broad.mit.edu 37 1 16952952 16952952 + RNA SNP G A A rs1762946 by1000genomes TCGA-FS-A1ZG-06A-11D-A197-08 TCGA-FS-A1ZG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12d3df2b-80aa-46ac-8a04-e7b0e9c45ff2 98ec11e7-b2e4-4c0f-9821-2440389ef54e g.chr1:16952952G>A uc010ocf.2 - 0 c.43C>T CROCCP2_uc009vov.2_Non-coding_Transcript|CROCCP2_uc001aze.3_Non-coding_Transcript|CROCCP2_uc001azf.3_Non-coding_Transcript|CROCCP2_uc001azg.1_Non-coding_Transcript Homo sapiens ciliary rootlet coiled-coil, rootletin pseudogene 2 (CROCCP2), non-coding RNA. TCTGCCCTCAGCTTGGTCACG 0.622000 18 5 0 0 1.23904e-05 0 0 MST1P2 11209 broad.mit.edu 37 1 16974511 16974511 + RNA SNP G A A rs58679574 by1000genomes TCGA-FS-A1ZG-06A-11D-A197-08 TCGA-FS-A1ZG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12d3df2b-80aa-46ac-8a04-e7b0e9c45ff2 98ec11e7-b2e4-4c0f-9821-2440389ef54e g.chr1:16974511G>A uc009vow.2 + 4 c.1321G>A MST1P2_uc010ocg.1_Non-coding_Transcript|MST1P2_uc010och.2_Non-coding_Transcript|MST1P2_uc010oci.1_Non-coding_Transcript|MST1P2_uc001azk.2_Non-coding_Transcript|MST1P2_uc009vox.3_Non-coding_Transcript|MST1P2_uc001azm.4_Non-coding_Transcript Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA. GGGTAGTCACGGGCTTAGGGC 0.652000 18 5 0 0 1.23904e-05 0 0 GLP1R 2740 broad.mit.edu 37 6 39041404 39041404 + Silent SNP C T T TCGA-FS-A1ZG-06A-11D-A197-08 TCGA-FS-A1ZG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12d3df2b-80aa-46ac-8a04-e7b0e9c45ff2 98ec11e7-b2e4-4c0f-9821-2440389ef54e g.chr6:39041404C>T uc003ooj.4 + 6 742 c.682C>T c.(682-684)Ctg>Ttg p.L228L GLP1R_uc003ooh.2_Non-coding_Transcript|GLP1R_uc003ooi.2_Non-coding_Transcript NM_002062 NP_002053 P43220 GLP1R_HUMAN Homo sapiens glucagon-like peptide 1 receptor (GLP1R), mRNA. 228 activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion integral to membrane|plasma membrane glucagon receptor activity|peptide receptor activity, G-protein coupled breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2) 31 Exenatide(DB01276)|Glucagon recombinant(DB00040) GAGCTGCCGCCTGGTGTTTCT 0.587000 34 26 0 0 0.000147802 0 0 GPX7 2882 broad.mit.edu 37 1 53072382 53072382 + Silent SNP C T T TCGA-FS-A1ZG-06A-11D-A197-08 TCGA-FS-A1ZG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12d3df2b-80aa-46ac-8a04-e7b0e9c45ff2 98ec11e7-b2e4-4c0f-9821-2440389ef54e g.chr1:53072382C>T uc001cue.3 + 1 204 c.165C>T c.(163-165)agC>agT p.S55S NM_015696 NP_056511 Q96SL4 GPX7_HUMAN Homo sapiens glutathione peroxidase 7 (GPX7), mRNA. 55 response to oxidative stress extracellular region glutathione peroxidase activity breast(1)|kidney(1)|lung(4)|upper_aerodigestive_tract(1) 7 Glutathione(DB00143) ATGTGGCCAGCGAGTGCGGCT 0.572000 8 11 0 0 6.40141e-05 0 0 ST6GALNAC1 55808 broad.mit.edu 37 17 74625601 74625601 + Silent SNP C T T TCGA-FS-A1ZG-06A-11D-A197-08 TCGA-FS-A1ZG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12d3df2b-80aa-46ac-8a04-e7b0e9c45ff2 98ec11e7-b2e4-4c0f-9821-2440389ef54e g.chr17:74625601C>T uc002jsh.3 - 1 498 c.324G>A c.(322-324)ccG>ccA p.P108P ST6GALNAC1_uc002jsi.3_5'UTR|ST6GALNAC1_uc002jsj.3_Non-coding_Transcript NM_018414 NP_060884 Q9NSC7 SIA7A_HUMAN Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1 (ST6GALNAC1), mRNA. 108 protein glycosylation integral to Golgi membrane alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1) 22 GCTCCTCCGGCGGTGCCTGGT 0.587000 16 15 0 0 1.49906e-05 0 0 LMOD1 25802 broad.mit.edu 37 1 201868801 201868802 + Missense_Mutation DNP AG CT CT TCGA-FS-A1ZG-06A-11D-A197-08 TCGA-FS-A1ZG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12d3df2b-80aa-46ac-8a04-e7b0e9c45ff2 98ec11e7-b2e4-4c0f-9821-2440389ef54e g.chr1:201868801_201868802AG>CT uc021phl.1 - 1 1587_1588 c.1339_1340CT>AG c.(1339-1341)ctg>AGg p.L447R LMOD1_uc021phm.1_Missense_Mutation_p.L447R|LMOD1_uc010ppu.2_Missense_Mutation_p.L396R NM_012134 NP_036266 P29536 LMOD1_HUMAN Homo sapiens leiomodin 1 (smooth muscle) (LMOD1), mRNA. 447 muscle contraction cytoskeleton|cytosol|membrane fraction tropomyosin binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 CAGCTTGAGCAGGGTAGTATTC 0.569000 6 5 0 0 6.4e-05 0 0 NLRP10 338322 broad.mit.edu 37 11 7982724 7982724 + Missense_Mutation SNP C A A TCGA-FS-A1ZG-06A-11D-A197-08 TCGA-FS-A1ZG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12d3df2b-80aa-46ac-8a04-e7b0e9c45ff2 98ec11e7-b2e4-4c0f-9821-2440389ef54e g.chr11:7982724C>A uc001mfv.1 - 1 452 c.435G>T c.(433-435)caG>caT p.Q145H NM_176821 NP_789791 Q86W26 NAL10_HUMAN Homo sapiens NLR family, pyrin domain containing 10 (NLRP10), mRNA. 145 ATP binding breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) ACTCCAGCTCCTGCTCCGGGA 0.592000 18 16 2.31682e-05 0.00179151 2.31682e-05 1 0 DMD 1756 broad.mit.edu 37 X 32486764 32486764 + Missense_Mutation SNP C T T TCGA-FS-A1ZG-06A-11D-A197-08 TCGA-FS-A1ZG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12d3df2b-80aa-46ac-8a04-e7b0e9c45ff2 98ec11e7-b2e4-4c0f-9821-2440389ef54e g.chrX:32486764C>T uc004dda.1 - 22 3257 c.3013G>A c.(3013-3015)Gag>Aag p.E1005K DMD_uc004dcz.2_Missense_Mutation_p.E882K|DMD_uc004dcy.1_Missense_Mutation_p.E1001K|DMD_uc004ddb.1_Missense_Mutation_p.E997K|DMD_uc010ngo.1_Intron NM_004006 NP_004001 P11532 DMD_HUMAN Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA. 1005 muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) TTCGACATCTCTTTCACAGTG 0.403000 4 22 0 0 4.16121e-05 0 0 PDHX 8050 broad.mit.edu 37 11 34991758 34991758 + Missense_Mutation SNP A C C rs146262415 TCGA-FS-A1ZG-06A-11D-A197-08 TCGA-FS-A1ZG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12d3df2b-80aa-46ac-8a04-e7b0e9c45ff2 98ec11e7-b2e4-4c0f-9821-2440389ef54e g.chr11:34991758A>C uc001mvt.3 + 6 1415 c.889A>C c.(889-891)Act>Cct p.T297P PDHX_uc010rep.2_Missense_Mutation_p.T282P|PDHX_uc010req.2_Intron NM_003477 NP_003468 O00330 ODPX_HUMAN Homo sapiens pyruvate dehydrogenase complex, component X (PDHX), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 297 pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix acyltransferase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1) 16 all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242) all_hematologic(20;0.124) STAD - Stomach adenocarcinoma(6;0.00113) ATCTAAAAGTACTGTACCTCA 0.393000 24 13 0 0 1.49906e-05 0 0 C9orf84 158401 broad.mit.edu 37 9 114456569 114456569 + Nonsense_Mutation SNP G T T TCGA-FS-A1ZG-06A-11D-A197-08 TCGA-FS-A1ZG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12d3df2b-80aa-46ac-8a04-e7b0e9c45ff2 98ec11e7-b2e4-4c0f-9821-2440389ef54e g.chr9:114456569G>T uc004bfr.3 - 22 3200 c.3065C>A c.(3064-3066)tCa>tAa p.S1022* C9orf84_uc011lwt.2_Non-coding_Transcript|C9orf84_uc004bfq.3_Nonsense_Mutation_p.S983*|C9orf84_uc010mug.3_Nonsense_Mutation_p.S933* NM_173521 NP_775792 Q5VXU9 CI084_HUMAN Homo sapiens chromosome 9 open reading frame 84 (C9orf84), transcript variant 1, mRNA. 1022 breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 ATCTCTCTTTGAGGTCATTAA 0.328000 232 9 6.40141e-05 0.0046469 6.40141e-05 1 0 ATRN 8455 broad.mit.edu 37 20 3515900 3515900 + Splice_Site SNP A G G TCGA-FS-A1ZG-06A-11D-A197-08 TCGA-FS-A1ZG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12d3df2b-80aa-46ac-8a04-e7b0e9c45ff2 98ec11e7-b2e4-4c0f-9821-2440389ef54e g.chr20:3515900A>G uc002wim.2 + 2 501 c.411_splice c.e2-1 p.R137_splice ATRN_uc002wil.2_Splice_Site_p.R137_splice|ATRN_uc021vzz.1_Splice_Site_p.R21_splice NM_139321 NP_647537 O75882 ATRN_HUMAN Homo sapiens attractin (ATRN), transcript variant 1, mRNA. 137 CUB. inflammatory response extracellular space|integral to plasma membrane receptor activity|sugar binding breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 59 TAAATTACAGACTAACTGGAT 0.279000 35 21 0 0 2.27731e-05 0 0 ADCY2 108 broad.mit.edu 37 5 7789862 7789862 + Silent SNP G A A TCGA-FS-A1ZG-06A-11D-A197-08 TCGA-FS-A1ZG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12d3df2b-80aa-46ac-8a04-e7b0e9c45ff2 98ec11e7-b2e4-4c0f-9821-2440389ef54e g.chr5:7789862G>A uc003jdz.1 + 19 2644 c.2577G>A c.(2575-2577)gtG>gtA p.V859V ADCY2_uc011cmo.1_Silent_p.V679V|ADCY2_uc010itm.1_Silent_p.V55V NM_020546 NP_065433 Q08462 ADCY2_HUMAN Homo sapiens adenylate cyclase 2 (brain) (ADCY2), mRNA. 859 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding p.N858N(2) NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 119 TGGAGAACGTGCTTCCCGCGC 0.562000 62 11 0 0 3.86212e-05 0 0 GRIPAP1 56850 broad.mit.edu 37 X 48847416 48847416 + Silent SNP C T T TCGA-FS-A1ZG-06A-11D-A197-08 TCGA-FS-A1ZG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12d3df2b-80aa-46ac-8a04-e7b0e9c45ff2 98ec11e7-b2e4-4c0f-9821-2440389ef54e g.chrX:48847416C>T uc004dly.1 - 6 599 c.564G>A c.(562-564)ccG>ccA p.P188P GRIPAP1_uc004dlz.3_Silent_p.P78P|GRIPAP1_uc004dma.3_Silent_p.P135P NM_020137 NP_064522 Q4V328 GRAP1_HUMAN Homo sapiens GRIP1 associated protein 1 (GRIPAP1), transcript variant 1, mRNA. 188 early endosome p.P135P(2)|p.P188P(1) breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2) 10 CCTCTGCCAACGGCATGGGGG 0.597000 4 14 0 0 2.31682e-05 0 0 HCFC1 3054 broad.mit.edu 37 X 153227717 153227717 + Silent SNP C T T TCGA-FS-A1ZG-06A-11D-A197-08 TCGA-FS-A1ZG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12d3df2b-80aa-46ac-8a04-e7b0e9c45ff2 98ec11e7-b2e4-4c0f-9821-2440389ef54e g.chrX:153227717C>T uc004fjp.3 - 4 1281 c.753G>A c.(751-753)gcG>gcA p.A251A NM_005334 NP_005325 P51610 HCFC1_HUMAN Homo sapiens host cell factor C1 (VP16-accessory protein) (HCFC1), mRNA. 251 cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter MLL1 complex|MLL5-L complex|Set1C/COMPASS complex|mitochondrion chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GAGGAAGAGGCGCCACCCCGC 0.597000 9 8 0 0 3.86212e-05 0 0 FER1L6 654463 broad.mit.edu 37 8 125035704 125035704 + Silent SNP C T T TCGA-FS-A1ZG-06A-11D-A197-08 TCGA-FS-A1ZG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12d3df2b-80aa-46ac-8a04-e7b0e9c45ff2 98ec11e7-b2e4-4c0f-9821-2440389ef54e g.chr8:125035704C>T uc003yqw.3 + 17 2360 c.2154C>T c.(2152-2154)gaC>gaT p.D718D FER1L6-AS1_uc003yqx.1_Intron NM_001039112 NP_001034201 Q2WGJ9 FR1L6_HUMAN Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA. 718 integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) CTATCCCTGACGTTTTCATCT 0.527000 31 18 0 0 3.10358e-05 0 0 MST1P9 11223 broad.mit.edu 37 1 17084021 17084021 + Missense_Mutation SNP C G G rs2446543 TCGA-FS-A1ZG-06A-11D-A197-08 TCGA-FS-A1ZG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12d3df2b-80aa-46ac-8a04-e7b0e9c45ff2 98ec11e7-b2e4-4c0f-9821-2440389ef54e g.chr1:17084021C>G uc010ock.2 - 13 1900 c.1900G>C c.(1900-1902)Gcc>Ccc p.A634P CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_Missense_Mutation_p.A234P Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA. p.A634P(1) breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1) 34 ACCTCACAGGCCCCCACAGGG 0.572000 28 5 0 0 5.18039e-06 0 0 PRKDC 5591 broad.mit.edu 37 8 48840367 48840367 + Silent SNP A G G TCGA-FS-A1ZG-06A-11D-A197-08 TCGA-FS-A1ZG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12d3df2b-80aa-46ac-8a04-e7b0e9c45ff2 98ec11e7-b2e4-4c0f-9821-2440389ef54e g.chr8:48840367A>G uc003xqi.3 - 19 2280 c.2223T>C c.(2221-2223)atT>atC p.I741I PRKDC_uc003xqj.3_Silent_p.I741I NM_006904 NP_008835 P78527 PRKDC_HUMAN Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA. 741 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) CATCGAGTTCAATGATGTTGT 0.443000 Non-homologous end-joining 16 9 0 0 2.17888e-05 0 0 PIGU 128869 broad.mit.edu 37 20 33176297 33176297 + Missense_Mutation SNP G C C TCGA-FS-A1ZG-06A-11D-A197-08 TCGA-FS-A1ZG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12d3df2b-80aa-46ac-8a04-e7b0e9c45ff2 98ec11e7-b2e4-4c0f-9821-2440389ef54e g.chr20:33176297G>C uc002xas.3 - 7 942 c.742C>G c.(742-744)Ctc>Gtc p.L248V PIGU_uc010zul.2_Missense_Mutation_p.L248V|PIGU_uc002xat.3_Missense_Mutation_p.L228V|PIGU_uc010gev.1_Non-coding_Transcript NM_080476 NP_536724 Q9H490 PIGU_HUMAN Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class U (PIGU), mRNA. 248 C-terminal protein lipidation|attachment of GPI anchor to protein|regulation of JAK-STAT cascade GPI-anchor transamidase complex|plasma membrane NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1) 9 CAAGAGCTGAGAAGGAAGAAG 0.433000 15 10 0 0 6.40141e-05 0 0 APC 324 broad.mit.edu 37 5 112173801 112173801 + Nonsense_Mutation SNP C G G rs79512956 TCGA-FS-A1ZG-06A-11D-A197-08 TCGA-FS-A1ZG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12d3df2b-80aa-46ac-8a04-e7b0e9c45ff2 98ec11e7-b2e4-4c0f-9821-2440389ef54e g.chr5:112173801C>G uc003kpz.4 + 16 2703 c.2510C>G c.(2509-2511)tCa>tGa p.S837* APC_uc011cvt.2_Nonsense_Mutation_p.S819*|APC_uc003kpy.4_Nonsense_Mutation_p.S837*|APC_uc010jbz.3_Nonsense_Mutation_p.S554*|APC_uc010jca.3_Nonsense_Mutation_p.S137* NM_001127510 NP_001120982 P25054 APC_HUMAN Homo sapiens adenomatous polyposis coli (APC), transcript variant 2, mRNA. 837 Ser-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|adherens junction|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.?(1)|p.S837fs*7(1) NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20) 3261 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) TCCTCTTCATCAAGAGGAAGC 0.398000 12 """D, Mis, N, F, S""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis TSP Lung(16;0.13) 22 22 0 0 2.27731e-05 0 0 CYLC2 1539 broad.mit.edu 37 9 105765476 105765476 + Silent SNP T C C TCGA-FS-A1ZG-06A-11D-A197-08 TCGA-FS-A1ZG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12d3df2b-80aa-46ac-8a04-e7b0e9c45ff2 98ec11e7-b2e4-4c0f-9821-2440389ef54e g.chr9:105765476T>C uc004bbs.2 + 2 181 c.111T>C c.(109-111)ttT>ttC p.F37F NM_001340 NP_001331 Q14093 CYLC2_HUMAN Homo sapiens cylicin, basic protein of sperm head cytoskeleton 2 (CYLC2), mRNA. 37 31 X 3 AA repeats of K-K-X. cell differentiation|multicellular organismal development|spermatogenesis cytoskeletal calyx structural constituent of cytoskeleton NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2) 41 all_hematologic(171;0.125) CCCTGTTATTTCCCAAACCAC 0.368000 40 16 0 0 9.7654e-05 0 0 CAPNS1 826 broad.mit.edu 37 19 36640548 36640548 + Missense_Mutation SNP C G G TCGA-FS-A1ZG-06A-11D-A197-08 TCGA-FS-A1ZG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12d3df2b-80aa-46ac-8a04-e7b0e9c45ff2 98ec11e7-b2e4-4c0f-9821-2440389ef54e g.chr19:36640548C>G uc002odi.1 + 9 947 c.790C>G c.(790-792)Ccc>Gcc p.P264A CAPNS1_uc002odk.3_Intron|CAPNS1_uc002odj.3_Intron|CAPNS1_uc002odl.3_Intron NM_001749 NP_001740 P04632 CPNS1_HUMAN Homo sapiens calpain, small subunit 1 (CAPNS1), transcript variant 1, mRNA. 0 EF-hand 5. WLQLTMYS -> VRTPILGYGCLGGPHPSALHTSSELQSPS SYFASRPWVRAKGLVLLGFPVLTLHPPLPSGCS (in Ref. 7; AAH11903). positive regulation of cell proliferation cytoplasm|plasma membrane calcium ion binding|calcium-dependent cysteine-type endopeptidase activity cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 5 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) GGTAAGGACCCCCATATTGGG 0.572000 9 8 0 0 5.18039e-06 0 0 FAM83B 222584 broad.mit.edu 37 6 54805115 54805115 + Missense_Mutation SNP C T T rs147775708 byFrequency TCGA-FS-A1ZG-06A-11D-A197-08 TCGA-FS-A1ZG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12d3df2b-80aa-46ac-8a04-e7b0e9c45ff2 98ec11e7-b2e4-4c0f-9821-2440389ef54e g.chr6:54805115C>T uc003pck.3 + 4 1462 c.1346C>T c.(1345-1347)gCg>gTg p.A449V NM_001010872 NP_001010872 Q5T0W9 FA83B_HUMAN Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA. 449 autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 71 Lung NSC(77;0.0178)|Renal(3;0.122) AATCGGCTTGCGCAGAGAAAA 0.463000 29 12 0 0 0.00010058 0 0 PCDHB14 56122 broad.mit.edu 37 5 140604055 140604055 + Silent SNP T C C TCGA-FS-A1ZG-06A-11D-A197-08 TCGA-FS-A1ZG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12d3df2b-80aa-46ac-8a04-e7b0e9c45ff2 98ec11e7-b2e4-4c0f-9821-2440389ef54e g.chr5:140604055T>C uc003ljb.3 + 0 978 c.978T>C c.(976-978)ggT>ggC p.G326G NM_018934 NP_061757 Q9Y5E9 PCDBE_HUMAN Homo sapiens protocadherin beta 14 (PCDHB14), mRNA. 326 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ATGGTGGGGGTCTTTCAGGAA 0.383000 47 6 0 0 3.59834e-05 0 0 IQGAP2 10788 broad.mit.edu 37 5 75970327 75970327 + Missense_Mutation SNP G C C TCGA-FS-A1ZG-06A-11D-A197-08 TCGA-FS-A1ZG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12d3df2b-80aa-46ac-8a04-e7b0e9c45ff2 98ec11e7-b2e4-4c0f-9821-2440389ef54e g.chr5:75970327G>C uc003kek.3 + 26 3542 c.3320G>C c.(3319-3321)cGg>cCg p.R1107P IQGAP2_uc011csv.2_Missense_Mutation_p.R603P|IQGAP2_uc003kel.3_Missense_Mutation_p.R603P|IQGAP2_uc010izw.1_5'UTR NM_006633 NP_006624 Q13576 IQGA2_HUMAN Homo sapiens IQ motif containing GTPase activating protein 2 (IQGAP2), mRNA. 1107 Ras-GAP. small GTPase mediated signal transduction actin cytoskeleton GTPase inhibitor activity|Ras GTPase activator activity|actin binding|calmodulin binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149) all cancers(79;1.38e-36) CTGTACTATCGGTACATGAAT 0.388000 41 4 0 0 8.12818e-05 0 0 MBD5 55777 broad.mit.edu 37 2 149247828 149247828 + Nonsense_Mutation SNP C T T TCGA-FS-A1ZG-06A-11D-A197-08 TCGA-FS-A1ZG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12d3df2b-80aa-46ac-8a04-e7b0e9c45ff2 98ec11e7-b2e4-4c0f-9821-2440389ef54e g.chr2:149247828C>T uc002twm.4 + 11 4925 c.3928C>T c.(3928-3930)Caa>Taa p.Q1310* MBD5_uc010zbs.2_Intron|MBD5_uc002two.3_Nonsense_Mutation_p.Q568*|MBD5_uc002twp.3_Nonsense_Mutation_p.Q360* NM_018328 NP_060798 Q9P267 MBD5_HUMAN Homo sapiens methyl-CpG binding domain protein 5 (MBD5), mRNA. 1310 chromosome|nucleus DNA binding|chromatin binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 62 BRCA - Breast invasive adenocarcinoma(221;0.0569) CACTGCAAAGCAAGACCTGGT 0.443000 25 21 0 0 2.27731e-05 0 0 HYI 81888 broad.mit.edu 37 1 43917105 43917105 + Missense_Mutation SNP C A A TCGA-FS-A1ZG-06A-11D-A197-08 TCGA-FS-A1ZG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12d3df2b-80aa-46ac-8a04-e7b0e9c45ff2 98ec11e7-b2e4-4c0f-9821-2440389ef54e g.chr1:43917105C>A uc001cjo.3 - 6 932 c.736G>T c.(736-738)Gtg>Ttg p.V246L SZT2_uc001cjk.2_3'UTR|SZT2_uc001cjl.2_3'UTR|HYI_uc021omp.1_Missense_Mutation_p.V173L|HYI_uc001cjm.3_Missense_Mutation_p.V173L|HYI_uc021omq.1_Missense_Mutation_p.V271L|HYI_uc001cjn.3_Missense_Mutation_p.V246L NM_001190880 NP_001177809 Q5T013 HYI_HUMAN Homo sapiens hydroxypyruvate isomerase (putative) (HYI), transcript variant 3, mRNA. 246 hydroxypyruvate isomerase activity large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2) 6 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) TCACAGCCCACGAAGCCTTTG 0.622000 21 17 9.16793e-09 7.24674e-07 5.01169e-05 1 0 PLA2G2F 64600 broad.mit.edu 37 1 20465966 20465967 + Frame_Shift_Del DEL GT - - TCGA-FS-A1ZG-06A-11D-A197-08 TCGA-FS-A1ZG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12d3df2b-80aa-46ac-8a04-e7b0e9c45ff2 98ec11e7-b2e4-4c0f-9821-2440389ef54e g.chr1:20465966_20465967delGT uc009vpp.1 + 0 144_145 c.46_47delGT c.(46-48)gtgfs p.V16fs NM_022819 NP_073730 Q9BZM2 PA2GF_HUMAN Homo sapiens phospholipase A2, group IIF (PLA2G2F), mRNA. 0 lipid catabolic process|phospholipid metabolic process extracellular region calcium ion binding|phospholipase A2 activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 15 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000247)|Lung NSC(340;0.000285)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.000524)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198) CAAAAAGAAGGTGCTGGATAGA 0.579 --- 4 --- --- 2 --- HECTD1 25831 broad.mit.edu 37 14 31602754 31602755 + Frame_Shift_Ins INS - T T TCGA-FS-A1ZG-06A-11D-A197-08 TCGA-FS-A1ZG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12d3df2b-80aa-46ac-8a04-e7b0e9c45ff2 98ec11e7-b2e4-4c0f-9821-2440389ef54e g.chr14:31602754_31602755insT uc001wrc.1 - 22 4194_4195 c.3705_3706insA c.(3703-3708)gaacttfs p.E1235fs HECTD1_uc001wrd.1_Frame_Shift_Ins_p.E750fs NM_015382 NP_056197 Q9ULT8 HECD1_HUMAN Homo sapiens HECT domain containing 1 (HECTD1), mRNA. 1235 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular metal ion binding|protein binding|ubiquitin-protein ligase activity breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 70 Hepatocellular(127;0.0877)|Breast(36;0.176) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00617) GTGCCATAAAGTTCGAATCCAG 0.376 --- 56 --- --- 45 --- HERC1 8925 broad.mit.edu 37 15 64039192 64039192 + Frame_Shift_Del DEL G - - TCGA-FS-A1ZG-06A-11D-A197-08 TCGA-FS-A1ZG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12d3df2b-80aa-46ac-8a04-e7b0e9c45ff2 98ec11e7-b2e4-4c0f-9821-2440389ef54e g.chr15:64039192delG uc002amp.3 - 11 2593 c.2445delC c.(2443-2445)ctcfs p.L815fs HERC1_uc010uil.1_Intron NM_003922 NP_003913 Q15751 HERC1_HUMAN Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA. 815 protein modification process|transport Golgi apparatus|cytosol|membrane ARF guanyl-nucleotide exchange factor activity|acid-amino acid ligase activity NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 132 CCTGCCTCCCGAGAATGCTGG 0.478 --- 4 --- --- 2 ---