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 KBTBD7 84078 broad.mit.edu 37 13 41768120 41768120 + Missense_Mutation SNP C C G TCGA-EL-A3ZR-01A-11D-A23M-08 TCGA-EL-A3ZR-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef14112d-0d01-4b95-9d74-61973fcb5a89 99efb2b0-1cf3-455d-83ba-f2a81b958a33 g.chr13:41768120C>G ENST00000379483.3 - 1 582 c.274G>C c.(274-276)Gcg>Ccg p.A92P NM_032138.4 NP_115514.2 Q8WVZ9 KBTB7_HUMAN kelch repeat and BTB (POZ) domain containing 7 92 BTB. protein binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 24 Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367) all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669) TAGGGACACGCAGCTGCTAGC 0.617000 8 47 0 0 1 0 0 BNC2 54796 broad.mit.edu 37 9 16436472 16436472 + Missense_Mutation SNP T T C TCGA-EL-A3ZR-01A-11D-A23M-08 TCGA-EL-A3ZR-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef14112d-0d01-4b95-9d74-61973fcb5a89 99efb2b0-1cf3-455d-83ba-f2a81b958a33 g.chr9:16436472T>C ENST00000380672.4 - 6 1777 c.1720A>G c.(1720-1722)Aga>Gga p.R574G BNC2_ENST00000380666.2_Missense_Mutation_p.R574G|BNC2_ENST00000545497.1_Missense_Mutation_p.R479G|BNC2_ENST00000380667.2_Missense_Mutation_p.R507G NM_017637.5 NP_060107.3 Q6ZN30 BNC2_HUMAN basonuclin 2 574 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 60 GBM - Glioblastoma multiforme(50;9.01e-08) AGTAAACTTCTATAAAATGGA 0.507000 30 62 0 0 1 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587730 43587730 + RNA SNP A A C rs142536398 by1000genomes TCGA-EL-A3ZR-01A-11D-A23M-08 TCGA-EL-A3ZR-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef14112d-0d01-4b95-9d74-61973fcb5a89 99efb2b0-1cf3-455d-83ba-f2a81b958a33 g.chr17:43587730A>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA GTATTGATTCATTTTATTCAT 0.343000 3 35 0 0 1 0 0 PCDH11X 27328 broad.mit.edu 37 X 91090988 91090988 + Missense_Mutation SNP C C T TCGA-EL-A3ZR-01A-11D-A23M-08 TCGA-EL-A3ZR-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef14112d-0d01-4b95-9d74-61973fcb5a89 99efb2b0-1cf3-455d-83ba-f2a81b958a33 g.chrX:91090988C>T ENST00000373094.1 + 1 1330 c.485C>T c.(484-486)gCg>gTg p.A162V PCDH11X_ENST00000361724.1_Missense_Mutation_p.A162V|PCDH11X_ENST00000361655.2_Missense_Mutation_p.A162V|PCDH11X_ENST00000504220.1_Missense_Mutation_p.A162V|PCDH11X_ENST00000298274.8_Missense_Mutation_p.A162V|PCDH11X_ENST00000395337.2_Missense_Mutation_p.A162V|PCDH11X_ENST00000406881.1_Missense_Mutation_p.A162V|PCDH11X_ENST00000373097.1_Missense_Mutation_p.A162V|PCDH11X_ENST00000373088.1_Missense_Mutation_p.A162V NM_032968.3 NP_116750.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked 162 Cadherin 2. homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 ACTCTCCCAGCGGCTGTTGAT 0.343000 5 52 0 0 1 0 0 MT-ATP6 4508 broad.mit.edu 37 MT 9114 9114 + Silent SNP A A G TCGA-EL-A3ZR-01A-11D-A23M-08 TCGA-EL-A3ZR-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef14112d-0d01-4b95-9d74-61973fcb5a89 99efb2b0-1cf3-455d-83ba-f2a81b958a33 g.chrM:9114A>G ENST00000361899.2 + 1 588 c.588A>G c.(586-588)ctA>ctG p.L196L mitochondrially encoded ATP synthase 6 breast(2)|endometrium(7)|kidney(8)|prostate(1) 18 TTCACAATTCTAATTCTACTG 0.438000 4 6 0 0 1 0 0 HRAS 3265 broad.mit.edu 37 11 533874 533874 + Missense_Mutation SNP T T C rs121913233 TCGA-EL-A3ZR-01A-11D-A23M-08 TCGA-EL-A3ZR-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef14112d-0d01-4b95-9d74-61973fcb5a89 99efb2b0-1cf3-455d-83ba-f2a81b958a33 g.chr11:533874T>C ENST00000417302.1 - 3 369 c.182A>G c.(181-183)cAg>cGg p.Q61R HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000451590.1_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R NM_176795.3 NP_789765.1 P01112 RASH_HUMAN Harvey rat sarcoma viral oncogene homolog 61 Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines). activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission cytosol|Golgi membrane|plasma membrane GTP binding|GTPase activity|protein C-terminus binding p.Q61R(136)|p.Q61L(117)|p.Q61P(3) adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225) 901 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) Sulindac(DB00605) GTACTCCTCCTGGCCGGCGGT 0.597000 Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG) 6 Mis """infrequent sarcomas, rare other types""" """rhadomyosarcoma, ganglioneuroblastoma, bladder""" Costello syndrome HNSCC(11;0.0054) 80 71 0 0 1 0 0 RDH14 57665 broad.mit.edu 37 2 18736681 18736681 + Missense_Mutation SNP A A T TCGA-EL-A3ZR-01A-11D-A23M-08 TCGA-EL-A3ZR-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef14112d-0d01-4b95-9d74-61973fcb5a89 99efb2b0-1cf3-455d-83ba-f2a81b958a33 g.chr2:18736681A>T ENST00000381249.3 - 2 894 c.787T>A c.(787-789)Ttg>Atg p.L263M RDH14_ENST00000468071.1_5'UTR NM_020905.3 NP_065956.1 retinol dehydrogenase 14 (all-trans/9-cis/11-cis) breast(2)|endometrium(1)|large_intestine(2)|lung(1) 6 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177) GGTTTGACCAACAGTGGAATG 0.473000 47 133 0 0 1 0 0 PPP1R3B 79660 broad.mit.edu 37 8 8998675 8998675 + Silent SNP T T G TCGA-EL-A3ZR-01A-11D-A23M-08 TCGA-EL-A3ZR-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef14112d-0d01-4b95-9d74-61973fcb5a89 99efb2b0-1cf3-455d-83ba-f2a81b958a33 g.chr8:8998675T>G ENST00000310455.3 - 2 637 c.487A>C c.(487-489)Agg>Cgg p.R163R PPP1R3B_ENST00000519699.1_Silent_p.R163R NM_001201329.1|NM_024607.3 NP_001188258.1|NP_078883.2 Q86XI6 PPR3B_HUMAN protein phosphatase 1, regulatory subunit 3B 163 CBM21. glycogen metabolic process endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 12 COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241) AACGTCATCCTTATTTTCACG 0.512000 80 84 0 0 1 0 0 POMGNT1 55624 broad.mit.edu 37 1 46663383 46663383 + Silent SNP T T C TCGA-EL-A3ZR-01A-11D-A23M-08 TCGA-EL-A3ZR-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef14112d-0d01-4b95-9d74-61973fcb5a89 99efb2b0-1cf3-455d-83ba-f2a81b958a33 g.chr1:46663383T>C ENST00000396420.3 - 2 747 c.111A>G c.(109-111)agA>agG p.R37R POMGNT1_ENST00000371984.3_Silent_p.R37R|POMGNT1_ENST00000371992.1_Silent_p.R37R|POMGNT1_ENST00000371986.3_Silent_p.R37R Q8WZA1 PMGT1_HUMAN protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 37 protein N-linked glycosylation|protein O-linked glycosylation Golgi membrane|integral to membrane|microsome alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 20 Acute lymphoblastic leukemia(166;0.155) CCTGACAGAATCTCCGCAGGG 0.602000 31 76 0 0 1 0 0 ABO 28 broad.mit.edu 37 9 136131223 136131223 + RNA SNP C C T TCGA-EL-A3ZR-01A-11D-A23M-08 TCGA-EL-A3ZR-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef14112d-0d01-4b95-9d74-61973fcb5a89 99efb2b0-1cf3-455d-83ba-f2a81b958a33 g.chr9:136131223C>T ENST00000453660.2 - 0 905 P16442 BGAT_HUMAN ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase) protein glycosylation extracellular region|Golgi cisterna membrane|integral to Golgi membrane fucosylgalactoside 3-alpha-galactosyltransferase activity|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity|metal ion binding central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2) 11 OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05) TCGTGCCACACGGCCTCGATG 0.662000 18 75 0 0 1 0 0 CLDN10 9071 broad.mit.edu 37 13 96086195 96086195 + Silent SNP G G A rs149372773 byFrequency TCGA-EL-A3ZR-01A-11D-A23M-08 TCGA-EL-A3ZR-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef14112d-0d01-4b95-9d74-61973fcb5a89 99efb2b0-1cf3-455d-83ba-f2a81b958a33 g.chr13:96086195G>A ENST00000376873.3 + 1 338 c.108G>A c.(106-108)tcG>tcA p.S36S NM_001160100.1|NM_182848.3 NP_001153572.1|NP_878268.1 P78369 CLD10_HUMAN claudin 10 38 calcium-independent cell-cell adhesion integral to membrane|tight junction identical protein binding|structural molecule activity endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1) 15 all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.18) GAGCCTCCTCGGTGATAACAG 0.552000 4 71 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1271213 1271213 + Missense_Mutation SNP C C A TCGA-EL-A3ZR-01A-11D-A23M-08 TCGA-EL-A3ZR-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef14112d-0d01-4b95-9d74-61973fcb5a89 99efb2b0-1cf3-455d-83ba-f2a81b958a33 g.chr11:1271213C>A ENST00000447027.1 + 31 13170 c.13112C>A c.(13111-13113)aCg>aAg p.T4371K MUC5B_ENST00000529681.1_Missense_Mutation_p.T4368K Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 4368 23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) GTGCTGACCACGAAGGCCACC 0.642000 133 91 1.74062e-63 1.79501e-63 1 1 0 OR5B17 219965 broad.mit.edu 37 11 58126180 58126180 + Silent SNP G G A rs146597451 TCGA-EL-A3ZR-01A-11D-A23M-08 TCGA-EL-A3ZR-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef14112d-0d01-4b95-9d74-61973fcb5a89 99efb2b0-1cf3-455d-83ba-f2a81b958a33 g.chr11:58126180G>A ENST00000357377.3 - 1 362 c.363C>T c.(361-363)taC>taT p.Y121Y NM_001005489.1 NP_001005489.1 Q8NGF7 OR5BH_HUMAN olfactory receptor, family 5, subfamily B, member 17 121 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 Esophageal squamous(5;0.0027) Breast(21;0.0778) ACACTGCTGCGTAGCGGTCAT 0.473000 19 74 0 0 1 0 0 KBTBD7 84078 broad.mit.edu 37 13 41768119 41768119 + Missense_Mutation SNP G G A TCGA-EL-A3ZR-01A-11D-A23M-08 TCGA-EL-A3ZR-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef14112d-0d01-4b95-9d74-61973fcb5a89 99efb2b0-1cf3-455d-83ba-f2a81b958a33 g.chr13:41768119G>A ENST00000379483.3 - 1 583 c.275C>T c.(274-276)gCg>gTg p.A92V NM_032138.4 NP_115514.2 Q8WVZ9 KBTB7_HUMAN kelch repeat and BTB (POZ) domain containing 7 92 BTB. protein binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 24 Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367) all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669) GTAGGGACACGCAGCTGCTAG 0.617000 8 46 0 0 1 0 0 LRP10 26020 broad.mit.edu 37 14 23345001 23345001 + Nonsense_Mutation SNP C C T TCGA-EL-A3ZR-01A-11D-A23M-08 TCGA-EL-A3ZR-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef14112d-0d01-4b95-9d74-61973fcb5a89 99efb2b0-1cf3-455d-83ba-f2a81b958a33 g.chr14:23345001C>T ENST00000359591.4 + 5 1535 c.844C>T c.(844-846)Cag>Tag p.Q282* LRP10_ENST00000546834.1_Nonsense_Mutation_p.Q282* NM_014045.3 NP_054764.2 Q7Z4F1 LRP10_HUMAN low density lipoprotein receptor-related protein 10 282 CUB 2. endocytosis coated pit|integral to membrane central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2) 32 all_cancers(95;4.69e-05) GBM - Glioblastoma multiforme(265;0.00549) ACTGTCTGGCCAGGCTGTTGT 0.582000 39 83 0 0 1 0 0 RFXAP 5994 broad.mit.edu 37 13 37399626 37399626 + Missense_Mutation SNP C C A TCGA-EL-A3ZR-01A-11D-A23M-08 TCGA-EL-A3ZR-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef14112d-0d01-4b95-9d74-61973fcb5a89 99efb2b0-1cf3-455d-83ba-f2a81b958a33 g.chr13:37399626C>A ENST00000255476.2 + 2 796 c.662C>A c.(661-663)cCt>cAt p.P221H RFXAP_ENST00000472888.1_3'UTR NM_000538.3 NP_000529.1 O00287 RFXAP_HUMAN regulatory factor X-associated protein 221 C-terminal domain. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1) 4 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) all cancers(112;3.5e-07)|Epithelial(112;1.27e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.0069)|BRCA - Breast invasive adenocarcinoma(63;0.0116)|GBM - Glioblastoma multiforme(144;0.0405) GGGGATCGTCCTGCAAGACCT 0.308000 18 30 3.32936e-07 3.32936e-07 1 1 0 MAP3K15 389840 broad.mit.edu 37 X 19389610 19389610 + Silent SNP C C T TCGA-EL-A3ZR-01A-11D-A23M-08 TCGA-EL-A3ZR-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef14112d-0d01-4b95-9d74-61973fcb5a89 99efb2b0-1cf3-455d-83ba-f2a81b958a33 g.chrX:19389610C>T ENST00000338883.4 - 23 3146 c.3147G>A c.(3145-3147)aaG>aaA p.K1049K MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000469203.2_Silent_p.K881K|MAP3K15_ENST00000359173.3_Silent_p.K484K NM_001001671.3 NP_001001671.3 Q6ZN16 M3K15_HUMAN mitogen-activated protein kinase kinase kinase 15 1049 ATP binding|MAP kinase kinase kinase activity|metal ion binding NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 42 Hepatocellular(33;0.183) CAATGATTTGCTTGATGTGTC 0.478000 42 59 0 0 1 0 0 EPC2 26122 broad.mit.edu 37 2 149528907 149528907 + Silent SNP T T G TCGA-EL-A3ZR-01A-11D-A23M-08 TCGA-EL-A3ZR-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef14112d-0d01-4b95-9d74-61973fcb5a89 99efb2b0-1cf3-455d-83ba-f2a81b958a33 g.chr2:149528907T>G ENST00000258484.6 + 10 1705 c.1671T>G c.(1669-1671)gtT>gtG p.V557V NM_015630.3 NP_056445.3 Q52LR7 EPC2_HUMAN enhancer of polycomb homolog 2 (Drosophila) 557 chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.0516) ATAAAAGAGTTTCTGCAGCAT 0.383000 19 76 0 0 1 0 0 PLCB3 5331 broad.mit.edu 37 11 64028911 64028911 + Missense_Mutation SNP T T G TCGA-EL-A3ZR-01A-11D-A23M-08 TCGA-EL-A3ZR-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef14112d-0d01-4b95-9d74-61973fcb5a89 99efb2b0-1cf3-455d-83ba-f2a81b958a33 g.chr11:64028911T>G ENST00000540288.1 + 15 1874 c.1771T>G c.(1771-1773)Tcc>Gcc p.S591A PLCB3_ENST00000279230.6_Missense_Mutation_p.S591A|PLCB3_ENST00000325234.5_Missense_Mutation_p.S524A NM_000932.2 NP_000923.1 Q01970 PLCB3_HUMAN phospholipase C, beta 3 (phosphatidylinositol-specific) 591 PI-PLC Y-box. intracellular signal transduction|lipid catabolic process|synaptic transmission cytosol calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1) 33 TGAGGAGATGTCCACGCTTGT 0.607000 11 120 0 0 1 0 0 MT-ND5 4540 broad.mit.edu 37 MT 13101 13101 + Silent SNP A A C TCGA-EL-A3ZR-01A-11D-A23M-08 TCGA-EL-A3ZR-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef14112d-0d01-4b95-9d74-61973fcb5a89 99efb2b0-1cf3-455d-83ba-f2a81b958a33 g.chrM:13101A>C ENST00000361567.2 + 1 765 c.765A>C c.(763-765)gcA>gcC p.A255A P03915 NU5M_HUMAN mitochondrially encoded NADH dehydrogenase 5 255 mitochondrial electron transport, NADH to ubiquinone|transport integral to membrane|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7) 74 NADH(DB00157) ATAGTTGTAGCAGGAATCTTC 0.517000 7 16 0 0 1 0 0 NLRP4 147945 broad.mit.edu 37 19 56373475 56373475 + Silent SNP G G A TCGA-EL-A3ZR-01A-11D-A23M-08 TCGA-EL-A3ZR-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef14112d-0d01-4b95-9d74-61973fcb5a89 99efb2b0-1cf3-455d-83ba-f2a81b958a33 g.chr19:56373475G>A ENST00000301295.6 + 5 2558 c.2136G>A c.(2134-2136)agG>agA p.R712R NLRP4_ENST00000346986.5_Silent_p.R712R|NLRP4_ENST00000587891.1_Silent_p.R637R NM_134444.4 NP_604393.2 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 712 ATP binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) ATGACATCAGGTCCCTCTGTG 0.473000 5 89 0 0 1 0 0 RTDR1 27156 broad.mit.edu 37 22 23401754 23401754 + Silent SNP C C T TCGA-EL-A3ZR-01A-11D-A23M-08 TCGA-EL-A3ZR-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef14112d-0d01-4b95-9d74-61973fcb5a89 99efb2b0-1cf3-455d-83ba-f2a81b958a33 g.chr22:23401754C>T ENST00000216036.4 - 7 1129 c.933G>A c.(931-933)acG>acA p.T311T NM_014433.2 NP_055248.1 Q9UHP6 RTDR1_HUMAN rhabdoid tumor deletion region gene 1 311 binding breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 18 all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181) READ - Rectum adenocarcinoma(21;0.175) TGGGCACGTGCGTCTGCAGGG 0.637000 40 140 0 0 1 0 0 SMTNL1 219537 broad.mit.edu 37 11 57310279 57310279 + Missense_Mutation SNP A A G TCGA-EL-A3ZR-01A-11D-A23M-08 TCGA-EL-A3ZR-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef14112d-0d01-4b95-9d74-61973fcb5a89 99efb2b0-1cf3-455d-83ba-f2a81b958a33 g.chr11:57310279A>G ENST00000457912.1 + 2 218 c.218A>G c.(217-219)aAg>aGg p.K73R SMTNL1_ENST00000399154.2_Missense_Mutation_p.K55R|SMTNL1_ENST00000527972.1_Missense_Mutation_p.K55R E9PPJ3 E9PPJ3_HUMAN smoothelin-like 1 55 endometrium(2)|large_intestine(1)|lung(4)|ovary(1) 8 AAGCAGGAAAAGGCACCAGCC 0.567000 3 35 0 0 1 0 0 RP5-896L10.1 0 broad.mit.edu 37 1 99474094 99474095 + RNA DEL AA AA - rs57656522 TCGA-EL-A3ZR-01A-11D-A23M-08 TCGA-EL-A3ZR-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef14112d-0d01-4b95-9d74-61973fcb5a89 99efb2b0-1cf3-455d-83ba-f2a81b958a33 g.chr1:99474094_99474095delAA ENST00000425113.1 + 0 370 NR_033940.1 AACAGCAACTAAAAAAAAAAAA 0.356 2 4 --- --- --- --- INTU 27152 broad.mit.edu 37 4 128564831 128564832 + Frame_Shift_Ins INS - - T TCGA-EL-A3ZR-01A-11D-A23M-08 TCGA-EL-A3ZR-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef14112d-0d01-4b95-9d74-61973fcb5a89 99efb2b0-1cf3-455d-83ba-f2a81b958a33 g.chr4:128564831_128564832insT ENST00000335251.5 + 2 405_406 c.302_303insT c.(301-303)taafs p.*101fs INTU_ENST00000296461.5_Frame_Shift_Ins_p.*101fs NM_015693.3 NP_056508.2 Q9ULD6 PDZD6_HUMAN inturned planar cell polarity protein 101 breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 43 GAAGATGACTACAAAGAAAGAA 0.361 7 151 --- --- --- --- RP11-262H14.3 0 broad.mit.edu 37 9 66545704 66545704 + RNA DEL C C - rs12353356 TCGA-EL-A3ZR-01A-11D-A23M-08 TCGA-EL-A3ZR-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef14112d-0d01-4b95-9d74-61973fcb5a89 99efb2b0-1cf3-455d-83ba-f2a81b958a33 g.chr9:66545704delC ENST00000445604.2 - 0 669 GAAAAAAAAACAAAGAAAGAA 0.373 2 4 --- --- --- --- RP11-65M17.3 0 broad.mit.edu 37 11 112332121 112332121 + RNA DEL T T - TCGA-EL-A3ZR-01A-11D-A23M-08 TCGA-EL-A3ZR-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef14112d-0d01-4b95-9d74-61973fcb5a89 99efb2b0-1cf3-455d-83ba-f2a81b958a33 g.chr11:112332121delT ENST00000528496.1 + 0 231 TGATTTTATGTTTTTTTTTTT 0.378 4 8 --- --- --- ---