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 GPR173 54328 broad.mit.edu 37 X 53106254 53106254 + Missense_Mutation SNP T T C TCGA-L4-A4E6-01A-11D-A24D-08 TCGA-L4-A4E6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2dae3b0-daed-439d-a376-38b637cc16de 029290ef-d50f-4821-ab73-8e05ab4a233c g.chrX:53106254T>C ENST00000332582.4 + 2 942 c.451T>C c.(451-453)Tct>Cct p.S151P NM_018969.5 NP_061842.1 Q9NS66 GP173_HUMAN G protein-coupled receptor 173 151 integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1) 16 CTGGACCCTGTCTGTGGCCAT 0.587000 4 31 0 0 1 0 0 PPL 5493 broad.mit.edu 37 16 4935331 4935331 + Missense_Mutation SNP C C G rs145520571 TCGA-L4-A4E6-01A-11D-A24D-08 TCGA-L4-A4E6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2dae3b0-daed-439d-a376-38b637cc16de 029290ef-d50f-4821-ab73-8e05ab4a233c g.chr16:4935331C>G ENST00000345988.2 - 22 3414 c.3325G>C c.(3325-3327)Gag>Cag p.E1109Q PPL_ENST00000590782.2_Missense_Mutation_p.E1107Q NM_002705.4 NP_002696.3 O60437 PEPL_HUMAN periplakin 1109 keratinization cytoskeleton|desmosome|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2) 62 ATCTTGCCCTCGGCCATGGCC 0.632000 6 102 0 0 1 0 0 CAAP1 79886 broad.mit.edu 37 9 26842344 26842344 + Silent SNP C C G TCGA-L4-A4E6-01A-11D-A24D-08 TCGA-L4-A4E6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2dae3b0-daed-439d-a376-38b637cc16de 029290ef-d50f-4821-ab73-8e05ab4a233c g.chr9:26842344C>G ENST00000333916.5 - 6 1129 c.1041G>C c.(1039-1041)gcG>gcC p.A347A CAAP1_ENST00000535437.1_Silent_p.A202A|CAAP1_ENST00000520187.1_3'UTR NM_001167575.1|NM_024828.3 NP_001161047.1|NP_079104.3 Q9H8G2 CI082_HUMAN caspase activity and apoptosis inhibitor 1 347 GGGCTTTAATCGCTCTTGCCC 0.428000 4 56 0 0 1 0 0 PCDHB11 56125 broad.mit.edu 37 5 140580953 140580953 + Missense_Mutation SNP C C G TCGA-L4-A4E6-01A-11D-A24D-08 TCGA-L4-A4E6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2dae3b0-daed-439d-a376-38b637cc16de 029290ef-d50f-4821-ab73-8e05ab4a233c g.chr5:140580953C>G ENST00000354757.3 + 1 1606 c.1606C>G c.(1606-1608)Cgc>Ggc p.R536G PCDHB11_ENST00000536699.1_Missense_Mutation_p.R171G NM_018931.2 NP_061754.1 Q9Y5F2 PCDBB_HUMAN 536 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CGCCACAGACCGCGGCTCCCC 0.667000 11 177 0 0 1 0 0 TBP 6908 broad.mit.edu 37 6 170871076 170871076 + Silent SNP G G A TCGA-L4-A4E6-01A-11D-A24D-08 TCGA-L4-A4E6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2dae3b0-daed-439d-a376-38b637cc16de 029290ef-d50f-4821-ab73-8e05ab4a233c g.chr6:170871076G>A ENST00000392092.2 + 3 531 c.252G>A c.(250-252)caG>caA p.Q84Q TBP_ENST00000540980.1_Silent_p.Q64Q|TBP_ENST00000230354.6_Silent_p.Q84Q NM_003194.4 NP_003185.1 P20226 TBP_HUMAN TATA box binding protein 84 Poly-Gln. cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding p.Q84Q(2) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1) 26 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) agcagcagcagcagcagcagc 0.602000 6 73 0 0 1 0 0 SIRPB1 10326 broad.mit.edu 37 20 1585397 1585397 + Missense_Mutation SNP T T C rs148754551 by1000genomes TCGA-L4-A4E6-01A-11D-A24D-08 TCGA-L4-A4E6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2dae3b0-daed-439d-a376-38b637cc16de 029290ef-d50f-4821-ab73-8e05ab4a233c g.chr20:1585397T>C ENST00000279477.7 - 3 806 c.742A>G c.(742-744)Acc>Gcc p.T248A SIRPB1_ENST00000381605.4_Intron|SIRPB1_ENST00000568365.1_Missense_Mutation_p.T248A|SIRPB1_ENST00000381603.3_Intron|RP4-576H24.4_ENST00000564763.1_Intron NM_001135844.2 NP_001129316.1 O00241 SIRB1_HUMAN signal-regulatory protein beta 1 248 cell junction assembly|cell surface receptor linked signaling pathway integral to plasma membrane protein binding p.T248A(5) central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 31 CCTCGGATGGTCTCAGACAAG 0.627000 8 42 0 0 1 0 0 ZNF587B 100293516 broad.mit.edu 37 19 58352292 58352292 + Missense_Mutation SNP A A G rs2562053 TCGA-L4-A4E6-01A-11D-A24D-08 TCGA-L4-A4E6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2dae3b0-daed-439d-a376-38b637cc16de 029290ef-d50f-4821-ab73-8e05ab4a233c g.chr19:58352292A>G ENST00000442832.4 + 3 484 c.250A>G c.(250-252)Aca>Gca p.T84A ZNF587B_ENST00000316462.4_Missense_Mutation_p.T83A|ZNF587B_ENST00000594901.1_Missense_Mutation_p.T84A|CTD-2583A14.10_ENST00000598031.1_Intron NM_001204818.1 NP_001191747.1 B4DR41 B4DR41_HUMAN zinc finger protein 587B 84 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding GACTCCTGTGACAGGTGTGTC 0.498000 3 25 0 0 1 0 0 NGEF 25791 broad.mit.edu 37 2 233785120 233785120 + Missense_Mutation SNP C C A TCGA-L4-A4E6-01A-11D-A24D-08 TCGA-L4-A4E6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2dae3b0-daed-439d-a376-38b637cc16de 029290ef-d50f-4821-ab73-8e05ab4a233c g.chr2:233785120C>A ENST00000264051.3 - 5 980 c.702G>T c.(700-702)aaG>aaT p.K234N NGEF_ENST00000373552.4_Missense_Mutation_p.K142N|NGEF_ENST00000409079.1_Missense_Mutation_p.K142N NM_019850.2 NP_062824.2 Q8N5V2 NGEF_HUMAN neuronal guanine nucleotide exchange factor 234 Regulatory region; modulates activity toward RHOA, RAC1 and CDC42 (By similarity). apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|growth cone|plasma membrane Rho guanyl-nucleotide exchange factor activity central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4) 35 Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604) GGGGCAGAGTCTTCCTCTCTG 0.602000 4 84 2.56e-06 2.84444e-06 1 1 0 PPP1R3A 5506 broad.mit.edu 37 7 113518262 113518262 + Missense_Mutation SNP C C T rs148408134 byFrequency TCGA-L4-A4E6-01A-11D-A24D-08 TCGA-L4-A4E6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2dae3b0-daed-439d-a376-38b637cc16de 029290ef-d50f-4821-ab73-8e05ab4a233c g.chr7:113518262C>T ENST00000284601.3 - 4 2953 c.2885G>A c.(2884-2886)gGt>gAt p.G962D NM_002711.3 NP_002702.2 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory subunit 3A 962 glycogen metabolic process integral to membrane NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 CTTCTCAATACCCTGGATTTC 0.403000 3 42 0 0 1 0 0 TBP 6908 broad.mit.edu 37 6 170871043 170871043 + Silent SNP G G A TCGA-L4-A4E6-01A-11D-A24D-08 TCGA-L4-A4E6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2dae3b0-daed-439d-a376-38b637cc16de 029290ef-d50f-4821-ab73-8e05ab4a233c g.chr6:170871043G>A ENST00000392092.2 + 3 498 c.219G>A c.(217-219)caG>caA p.Q73Q TBP_ENST00000540980.1_Silent_p.Q53Q|TBP_ENST00000230354.6_Silent_p.Q73Q NM_003194.4 NP_003185.1 P20226 TBP_HUMAN TATA box binding protein 73 Poly-Gln. cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding p.Q73Q(1) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1) 26 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) agcagcaacagcaacagcagc 0.562000 9 64 0 0 1 0 0 IL18RAP 8807 broad.mit.edu 37 2 103063627 103063627 + Silent SNP G G T TCGA-L4-A4E6-01A-11D-A24D-08 TCGA-L4-A4E6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2dae3b0-daed-439d-a376-38b637cc16de 029290ef-d50f-4821-ab73-8e05ab4a233c g.chr2:103063627G>T ENST00000264260.2 + 10 1759 c.1170G>T c.(1168-1170)ctG>ctT p.L390L IL18RAP_ENST00000409369.1_Silent_p.L248L NM_003853.2 NP_003844.1 O95256 I18RA_HUMAN interleukin 18 receptor accessory protein 390 cell surface receptor linked signaling pathway|inflammatory response|innate immune response integral to membrane transmembrane receptor activity autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4) 37 AAATAGTGCTGCTGTACCGGA 0.577000 8 225 1.58986e-06 1.81699e-06 1 1 0 CPS1 1373 broad.mit.edu 37 2 211532996 211532996 + Silent SNP G G C TCGA-L4-A4E6-01A-11D-A24D-08 TCGA-L4-A4E6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2dae3b0-daed-439d-a376-38b637cc16de 029290ef-d50f-4821-ab73-8e05ab4a233c g.chr2:211532996G>C ENST00000233072.5 + 34 4285 c.4089G>C c.(4087-4089)ctG>ctC p.L1363L CPS1_ENST00000451903.2_Silent_p.L912L|CPS1_ENST00000430249.2_Silent_p.L1369L NM_001875.4 NP_001866.2 P31327 CPSM_HUMAN carbamoyl-phosphate synthase 1, mitochondrial 1363 carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 142 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) AAGGCATCCTGATAGGCATCC 0.458000 4 65 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100680859 100680859 + Silent SNP G G T TCGA-L4-A4E6-01A-11D-A24D-08 TCGA-L4-A4E6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2dae3b0-daed-439d-a376-38b637cc16de 029290ef-d50f-4821-ab73-8e05ab4a233c g.chr7:100680859G>T ENST00000306151.4 + 3 6226 c.6162G>T c.(6160-6162)acG>acT p.T2054T NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 2054 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) TCAGCACTACGCTTGTGGTCA 0.493000 8 248 5.68852e-11 6.69238e-11 1 1 0 LILRB1 10859 broad.mit.edu 37 19 55143042 55143042 + Silent SNP G G A TCGA-L4-A4E6-01A-11D-A24D-08 TCGA-L4-A4E6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2dae3b0-daed-439d-a376-38b637cc16de 029290ef-d50f-4821-ab73-8e05ab4a233c g.chr19:55143042G>A ENST00000396331.1 + 5 519 c.162G>A c.(160-162)gaG>gaA p.E54E LILRB1_ENST00000434867.2_Silent_p.E54E|LILRB1_ENST00000418536.2_Silent_p.E54E|LILRB1_ENST00000396315.1_Silent_p.E54E|LILRB1_ENST00000396321.2_Silent_p.E54E|LILRB1_ENST00000396332.4_Silent_p.E54E|LILRB1_ENST00000324602.7_Silent_p.E54E|LILRB1_ENST00000396317.1_Silent_p.E54E|LILRB1_ENST00000448689.1_Silent_p.E54E|LILRB1_ENST00000396327.3_Silent_p.E54E|LILRB1_ENST00000427581.2_Silent_p.E90E NM_006669.3 NP_006660.3 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 54 Ig-like C2-type 1. regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) GGGGCCAGGAGACCCAGGAGT 0.582000 HNSCC(37;0.09) 7 135 0 0 1 0 0 GLB1L2 89944 broad.mit.edu 37 11 134238566 134238566 + Silent SNP G G T TCGA-L4-A4E6-01A-11D-A24D-08 TCGA-L4-A4E6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2dae3b0-daed-439d-a376-38b637cc16de 029290ef-d50f-4821-ab73-8e05ab4a233c g.chr11:134238566G>T ENST00000535456.2 + 10 1106 c.918G>T c.(916-918)gtG>gtT p.V306V GLB1L2_ENST00000529077.1_3'UTR|GLB1L2_ENST00000389881.3_Silent_p.V306V|GLB1L2_ENST00000339772.7_Silent_p.V306V NM_138342.3 NP_612351.2 Q8IW92 GLBL2_HUMAN galactosidase, beta 1-like 2 306 carbohydrate metabolic process extracellular region cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 all_hematologic(175;0.127) all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844) Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223) CTGCCATTGTGGACGCCGGCT 0.527000 5 57 0.184627 0.189361 1 1 0 CAPN6 827 broad.mit.edu 37 X 110495622 110495622 + Silent SNP G G A TCGA-L4-A4E6-01A-11D-A24D-08 TCGA-L4-A4E6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2dae3b0-daed-439d-a376-38b637cc16de 029290ef-d50f-4821-ab73-8e05ab4a233c g.chrX:110495622G>A ENST00000324068.1 - 5 779 c.612C>T c.(610-612)taC>taT p.Y204Y CAPN6_ENST00000541758.1_Intron NM_014289.3 NP_055104.2 Q9Y6Q1 CAN6_HUMAN calpain 6 204 Calpain catalytic. microtubule bundle formation|proteolysis|regulation of cytoskeleton organization perinuclear region of cytoplasm|spindle microtubule calcium-dependent cysteine-type endopeptidase activity|microtubule binding cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 47 CAAGCTCAGTGTATCTTCCTT 0.438000 4 29 0 0 1 0 0 MMP27 64066 broad.mit.edu 37 11 102565727 102565727 + Missense_Mutation SNP T T A TCGA-L4-A4E6-01A-11D-A24D-08 TCGA-L4-A4E6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2dae3b0-daed-439d-a376-38b637cc16de 029290ef-d50f-4821-ab73-8e05ab4a233c g.chr11:102565727T>A ENST00000260229.4 - 7 1095 c.1004A>T c.(1003-1005)aAc>aTc p.N335I NM_022122.2 NP_071405.2 Q9H306 MMP27_HUMAN matrix metallopeptidase 27 335 Hemopexin-like 2. collagen catabolic process|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding p.N335I(1) NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176) BRCA - Breast invasive adenocarcinoma(274;0.0151) ATCTCTGGGGTTCTCGTATGC 0.448000 4 39 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453124 140453124 + Missense_Mutation SNP C C A TCGA-L4-A4E6-01A-11D-A24D-08 TCGA-L4-A4E6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2dae3b0-daed-439d-a376-38b637cc16de 029290ef-d50f-4821-ab73-8e05ab4a233c g.chr7:140453124C>A ENST00000288602.6 - 15 1871 c.1811G>T c.(1810-1812)tGg>tTg p.W604L NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 604 Protein kinase. activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.W604*(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.V600_S605>EK(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) GGACCCACTCCATCGAGATTT 0.388000 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 3 30 1 1 1 1 0 ZSCAN5B 342933 broad.mit.edu 37 19 56704080 56704080 + Missense_Mutation SNP G G T TCGA-L4-A4E6-01A-11D-A24D-08 TCGA-L4-A4E6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2dae3b0-daed-439d-a376-38b637cc16de 029290ef-d50f-4821-ab73-8e05ab4a233c g.chr19:56704080G>T ENST00000586855.2 - 2 655 c.342C>A c.(340-342)gaC>gaA p.D114E ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.D114E A6NJL1 ZSA5B_HUMAN zinc finger and SCAN domain containing 5B 114 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 GGTCCTCCAGGTCTTTGCAGC 0.547000 4 64 0.00024832 0.000268454 1 1 0 BMS1P20 96610 broad.mit.edu 37 22 22664056 22664056 + RNA SNP T T C rs3178309 TCGA-L4-A4E6-01A-11D-A24D-08 TCGA-L4-A4E6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2dae3b0-daed-439d-a376-38b637cc16de 029290ef-d50f-4821-ab73-8e05ab4a233c g.chr22:22664056T>C ENST00000426066.1 + 0 623 NR_027293.1 ATAAAGTATATGATTTTGTGT 0.348000 4 33 0 0 1 0 0 GAB4 128954 broad.mit.edu 37 22 17450878 17450878 + Missense_Mutation SNP C C A TCGA-L4-A4E6-01A-11D-A24D-08 TCGA-L4-A4E6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2dae3b0-daed-439d-a376-38b637cc16de 029290ef-d50f-4821-ab73-8e05ab4a233c g.chr22:17450878C>A ENST00000400588.1 - 4 999 c.892G>T c.(892-894)Ggc>Tgc p.G298C GAB4_ENST00000523144.1_Intron NM_001037814.1 NP_001032903.1 Q2WGN9 GAB4_HUMAN GRB2-associated binding protein family, member 4 298 breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 all_epithelial(15;0.112)|Lung NSC(13;0.248) CTGGTGTGGCCATGGGAGGCC 0.597000 6 154 0.00116845 0.00122994 1 1 0 TBP 6908 broad.mit.edu 37 6 170871082 170871082 + Silent SNP G G A TCGA-L4-A4E6-01A-11D-A24D-08 TCGA-L4-A4E6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2dae3b0-daed-439d-a376-38b637cc16de 029290ef-d50f-4821-ab73-8e05ab4a233c g.chr6:170871082G>A ENST00000392092.2 + 3 537 c.258G>A c.(256-258)caG>caA p.Q86Q TBP_ENST00000540980.1_Silent_p.Q66Q|TBP_ENST00000230354.6_Silent_p.Q86Q NM_003194.4 NP_003185.1 P20226 TBP_HUMAN TATA box binding protein 86 Poly-Gln. cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding p.Q86Q(2) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1) 26 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) agcagcagcagcagcagcagc 0.612000 10 70 0 0 1 0 0 HOXA7 3204 broad.mit.edu 37 7 27194807 27194807 + Silent SNP C C G TCGA-L4-A4E6-01A-11D-A24D-08 TCGA-L4-A4E6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2dae3b0-daed-439d-a376-38b637cc16de 029290ef-d50f-4821-ab73-8e05ab4a233c g.chr7:27194807C>G ENST00000242159.3 - 2 547 c.414G>C c.(412-414)acG>acC p.T138T HOXA7_ENST00000523796.2_5'UTR|HOXA-AS3_ENST00000518947.2_RNA NM_006896.3 NP_008827.2 P31268 HXA7_HUMAN homeobox A7 138 angiogenesis|negative regulation of cell-matrix adhesion|negative regulation of keratinocyte differentiation|negative regulation of leukocyte migration|negative regulation of monocyte differentiation|negative regulation of transcription from RNA polymerase II promoter sequence-specific DNA binding|transcription factor binding endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|urinary_tract(1) 16 TCTGGTAGCGCGTGTAGGTCT 0.607000 9 126 0 0 1 0 0 MAGEA6 4105 broad.mit.edu 37 X 151869808 151869808 + Silent SNP G G C TCGA-L4-A4E6-01A-11D-A24D-08 TCGA-L4-A4E6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2dae3b0-daed-439d-a376-38b637cc16de 029290ef-d50f-4821-ab73-8e05ab4a233c g.chrX:151869808G>C ENST00000329342.5 + 3 723 c.498G>C c.(496-498)ctG>ctC p.L166L NM_005363.2 NP_005354.1 P43360 MAGA6_HUMAN melanoma antigen family A, 6 166 MAGE. protein binding breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1) 28 Acute lymphoblastic leukemia(192;6.56e-05) GCATCGAGCTGATGGAAGTGG 0.542000 8 107 0 0 1 0 0 FLJ33360 401172 broad.mit.edu 37 5 6337066 6337067 + RNA DEL AC AC - TCGA-L4-A4E6-01A-11D-A24D-08 TCGA-L4-A4E6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2dae3b0-daed-439d-a376-38b637cc16de 029290ef-d50f-4821-ab73-8e05ab4a233c g.chr5:6337066_6337067delAC ENST00000507444.1 - 0 143 NR_028351.1 acacatacatacacacacacac 0.475 2 4 --- --- --- --- PCDHB8 56128 broad.mit.edu 37 5 140559076 140559076 + Frame_Shift_Del DEL C C - TCGA-L4-A4E6-01A-11D-A24D-08 TCGA-L4-A4E6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2dae3b0-daed-439d-a376-38b637cc16de 029290ef-d50f-4821-ab73-8e05ab4a233c g.chr5:140559076delC ENST00000239444.2 + 1 1706 c.1461delC c.(1459-1461)gtfs p.V487fs NM_019120.3 NP_061993.2 Q9UN66 PCDB8_HUMAN 487 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACGCCCAGGTCACCTACTCGC 0.657 9 504 --- --- --- --- PHF14 9678 broad.mit.edu 37 7 11082342 11082342 + Frame_Shift_Del DEL A A - TCGA-L4-A4E6-01A-11D-A24D-08 TCGA-L4-A4E6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2dae3b0-daed-439d-a376-38b637cc16de 029290ef-d50f-4821-ab73-8e05ab4a233c g.chr7:11082342delA ENST00000403050.3 + 13 2665 c.2213delA c.(2212-2214)ctfs p.H738fs PHF14_ENST00000445996.2_Frame_Shift_Del_p.H453fs NM_014660.3 NP_055475.2 O94880 PHF14_HUMAN PHD finger protein 14 738 zinc ion binding NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 35 UCEC - Uterine corpus endometrioid carcinoma (126;0.205) CATGATCAGCATCTTCTTTTA 0.338 2 4 --- --- --- --- ZAN 7455 broad.mit.edu 37 7 100369720 100369721 + RNA INS - - T TCGA-L4-A4E6-01A-11D-A24D-08 TCGA-L4-A4E6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2dae3b0-daed-439d-a376-38b637cc16de 029290ef-d50f-4821-ab73-8e05ab4a233c g.chr7:100369720_100369721insT ENST00000542585.1 + 0 5573 ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) cctctaaattcttttttttttt 0.535 5 6 --- --- --- ---