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 NGEF 25791 broad.mit.edu 37 2 233785159 233785159 + Silent SNP C C T TCGA-EM-A3OB-01A-11D-A21Z-08 TCGA-EM-A3OB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32f66154-4799-4012-a4cf-9f492022e339 7267fa1d-9982-4712-8551-66d2fdb3778c g.chr2:233785159C>T ENST00000264051.3 - 5 941 c.663G>A c.(661-663)gaG>gaA p.E221E NGEF_ENST00000409079.1_Silent_p.E129E|NGEF_ENST00000373552.4_Silent_p.E129E NM_019850.2 NP_062824.2 Q8N5V2 NGEF_HUMAN neuronal guanine nucleotide exchange factor 221 Poly-Glu.|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 p.E221E(3) 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) cctcctcctcctcttcttctt 0.572000 3 74 0 0 1 0 0 TPTE2P6 0 broad.mit.edu 37 13 25168463 25168463 + RNA SNP T T C rs61946940 TCGA-EM-A3OB-01A-11D-A21Z-08 TCGA-EM-A3OB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32f66154-4799-4012-a4cf-9f492022e339 7267fa1d-9982-4712-8551-66d2fdb3778c g.chr13:25168463T>C ENST00000453498.1 + 0 1135 TGACAGTCCATCTCTGTACGA 0.363000 3 64 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625875 29625875 + Missense_Mutation SNP T T C rs143761036 by1000genomes TCGA-EM-A3OB-01A-11D-A21Z-08 TCGA-EM-A3OB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32f66154-4799-4012-a4cf-9f492022e339 7267fa1d-9982-4712-8551-66d2fdb3778c g.chr20:29625875T>C ENST00000278882.3 + 5 499 c.119T>C c.(118-120)aTc>aCc p.I40T FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T|FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T p.I40T(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGTACAGAATCGCCCTGAAA 0.358000 7 117 0 0 1 0 0 AGAP10 728127 broad.mit.edu 37 10 47207813 47207813 + Splice_Site SNP T T C TCGA-EM-A3OB-01A-11D-A21Z-08 TCGA-EM-A3OB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32f66154-4799-4012-a4cf-9f492022e339 7267fa1d-9982-4712-8551-66d2fdb3778c g.chr10:47207813T>C ENST00000355232.3 - 5 3482 c.471_splice c.e5+1 p.H157_splice RP11-144G6.12_ENST00000605970.1_RNA|AGAP10_ENST00000452145.2_Splice_Site_p.H132_splice|AGAP10_ENST00000413193.2_Splice_Site_p.H228_splice ArfGAP with GTPase domain, ankyrin repeat and PH domain 10 p.H228R(20) endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1) 12 TTTACTTACATGGTTTGTACA 0.294000 4 51 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13788939 13788939 + Missense_Mutation SNP T T C TCGA-EM-A3OB-01A-11D-A21Z-08 TCGA-EM-A3OB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32f66154-4799-4012-a4cf-9f492022e339 7267fa1d-9982-4712-8551-66d2fdb3778c g.chr5:13788939T>C ENST00000265104.4 - 51 8637 c.8533A>G c.(8533-8535)Aag>Gag p.K2845E NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 2845 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) ACTAAAGCCTTATCAAACCAG 0.398000 Kartagener syndrome 3 141 0 0 1 0 0 IGHD4-11 0 broad.mit.edu 37 14 106369475 106369475 + RNA SNP T T C TCGA-EM-A3OB-01A-11D-A21Z-08 TCGA-EM-A3OB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32f66154-4799-4012-a4cf-9f492022e339 7267fa1d-9982-4712-8551-66d2fdb3778c g.chr14:106369475T>C ENST00000431440.2 - 0 14 ATCACTATGGTAGTTACTGTA 0.597000 50 134 0 0 1 0 0 DEFB119 245932 broad.mit.edu 37 20 29976952 29976952 + Missense_Mutation SNP C C T TCGA-EM-A3OB-01A-11D-A21Z-08 TCGA-EM-A3OB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32f66154-4799-4012-a4cf-9f492022e339 7267fa1d-9982-4712-8551-66d2fdb3778c g.chr20:29976952C>T ENST00000376315.2 - 2 142 c.143G>A c.(142-144)cGg>cAg p.R48Q DEFB119_ENST00000376321.3_Intron|DEFB119_ENST00000492344.1_Intron|DEFB119_ENST00000339144.3_Intron NM_001271209.1|NM_153323.4 NP_001258138.1|NP_697018.1 Q8N690 DB119_HUMAN defensin, beta 119 54 defense response to bacterium extracellular region large_intestine(2)|lung(1)|prostate(1) 4 all_hematologic(12;0.158) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) AACACAGCACCGTTTACGATT 0.458000 3 151 0 0 1 0 0 LANCL2 55915 broad.mit.edu 37 7 55479606 55479606 + Missense_Mutation SNP G G A TCGA-EM-A3OB-01A-11D-A21Z-08 TCGA-EM-A3OB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32f66154-4799-4012-a4cf-9f492022e339 7267fa1d-9982-4712-8551-66d2fdb3778c g.chr7:55479606G>A ENST00000254770.2 + 6 1410 c.832G>A c.(832-834)Gca>Aca p.A278T NM_018697.3 NP_061167.1 Q9NS86 LANC2_HUMAN LanC lantibiotic synthetase component C-like 2 (bacterial) 278 negative regulation of transcription, DNA-dependent|positive regulation of abscisic acid mediated signaling pathway cortical actin cytoskeleton|cytosol|nucleus|plasma membrane ATP binding|catalytic activity|GTP binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1) 25 Breast(14;0.0379) Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706) AAAGCCGGCAGCAAAAGTGGA 0.348000 3 93 0 0 1 0 0 SRCAP 10847 broad.mit.edu 37 16 30749945 30749945 + Missense_Mutation SNP A A G TCGA-EM-A3OB-01A-11D-A21Z-08 TCGA-EM-A3OB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32f66154-4799-4012-a4cf-9f492022e339 7267fa1d-9982-4712-8551-66d2fdb3778c g.chr16:30749945A>G ENST00000262518.4 + 34 8969 c.8584A>G c.(8584-8586)Agg>Ggg p.R2862G SRCAP_ENST00000395059.2_Missense_Mutation_p.R2800G|SRCAP_ENST00000344771.4_Missense_Mutation_p.R2704G NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 2862 Pro-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) TCGGAGGGGGAGGCCCCCCAA 0.612000 3 57 0 0 1 0 0 HAUS6 54801 broad.mit.edu 37 9 19058159 19058159 + Missense_Mutation SNP G G A TCGA-EM-A3OB-01A-11D-A21Z-08 TCGA-EM-A3OB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32f66154-4799-4012-a4cf-9f492022e339 7267fa1d-9982-4712-8551-66d2fdb3778c g.chr9:19058159G>A ENST00000380502.3 - 16 3073 c.2606C>T c.(2605-2607)aCt>aTt p.T869I HAUS6_ENST00000380496.1_Missense_Mutation_p.T733I NM_017645.3 NP_060115.3 Q7Z4H7 HAUS6_HUMAN HAUS augmin-like complex, subunit 6 869 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|nucleus|spindle autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 ATTTTGGGGAGTAGGGCTCAA 0.423000 4 228 0 0 1 0 0 TSG101 7251 broad.mit.edu 37 11 18505466 18505466 + Missense_Mutation SNP T T C TCGA-EM-A3OB-01A-11D-A21Z-08 TCGA-EM-A3OB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32f66154-4799-4012-a4cf-9f492022e339 7267fa1d-9982-4712-8551-66d2fdb3778c g.chr11:18505466T>C ENST00000536719.1 - 8 928 c.794A>G c.(793-795)aAg>aGg p.K265R TSG101_ENST00000251968.3_Missense_Mutation_p.K265R|TSG101_ENST00000357193.3_Missense_Mutation_p.K160R Q99816 TS101_HUMAN tumor susceptibility 101 265 cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane calcium-dependent protein binding|DNA binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 22 CTGGTGACCCTTTTTCAGGTC 0.438000 4 428 0 0 1 0 0 IQSEC2 23096 broad.mit.edu 37 X 53268422 53268422 + Missense_Mutation SNP A A T TCGA-EM-A3OB-01A-11D-A21Z-08 TCGA-EM-A3OB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32f66154-4799-4012-a4cf-9f492022e339 7267fa1d-9982-4712-8551-66d2fdb3778c g.chrX:53268422A>T ENST00000396435.3 - 11 3270 c.3070T>A c.(3070-3072)Tct>Act p.S1024T IQSEC2_ENST00000375365.2_Missense_Mutation_p.S819T|IQSEC2_ENST00000375368.5_Missense_Mutation_p.S1014T NM_001111125.2 NP_001104595.1 Q5JU85 IQEC2_HUMAN IQ motif and Sec7 domain 2 1014 PH. regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1) 29 AGGGGGAAAGACTGACGGAAA 0.512000 OREG0019800 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 23 41 0 0 1 0 0 NRAS 4893 broad.mit.edu 37 1 115256529 115256529 + Missense_Mutation SNP T T C rs11554290 TCGA-EM-A3OB-01A-11D-A21Z-08 TCGA-EM-A3OB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32f66154-4799-4012-a4cf-9f492022e339 7267fa1d-9982-4712-8551-66d2fdb3778c g.chr1:115256529T>C ENST00000369535.4 - 3 435 c.182A>G c.(181-183)cAa>cGa p.Q61R NM_002524.4 NP_002515.1 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene homolog 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GTACTCTTCTTGTCCAGCTGT 0.458000 Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 95 118 0 0 1 0 0 PDE5A 8654 broad.mit.edu 37 4 120442128 120442128 + Missense_Mutation SNP G G T TCGA-EM-A3OB-01A-11D-A21Z-08 TCGA-EM-A3OB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32f66154-4799-4012-a4cf-9f492022e339 7267fa1d-9982-4712-8551-66d2fdb3778c g.chr4:120442128G>T ENST00000354960.3 - 13 2186 c.1867C>A c.(1867-1869)Cag>Aag p.Q623K PDE5A_ENST00000264805.5_Missense_Mutation_p.Q581K|PDE5A_ENST00000394439.1_Missense_Mutation_p.Q571K|RP11-33B1.1_ENST00000498873.1_RNA NM_001083.3 NP_001074.2 O76074 PDE5A_HUMAN phosphodiesterase 5A, cGMP-specific 623 Catalytic (By similarity). platelet activation|signal transduction cytosol 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 27 Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862) AACATGCACTGAGCTGTATTA 0.333000 5 227 1 1 1 1 0 TUBB8P7 0 broad.mit.edu 37 16 90161618 90161618 + RNA SNP C C T rs13338202 by1000genomes TCGA-EM-A3OB-01A-11D-A21Z-08 TCGA-EM-A3OB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32f66154-4799-4012-a4cf-9f492022e339 7267fa1d-9982-4712-8551-66d2fdb3778c g.chr16:90161618C>T ENST00000567960.1 + 0 354 TUBB8P7_ENST00000564451.1_RNA p.D118D(2) CAGTGATGGACGTTGTCAGAA 0.607000 5 54 0 0 1 0 0 IGHV1OR15-9 0 broad.mit.edu 37 15 20170018 20170018 + RNA SNP C C G rs140304162 by1000genomes TCGA-EM-A3OB-01A-11D-A21Z-08 TCGA-EM-A3OB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32f66154-4799-4012-a4cf-9f492022e339 7267fa1d-9982-4712-8551-66d2fdb3778c g.chr15:20170018C>G ENST00000338912.5 - 0 253 p.G85A(1) GGTGACTCTGCCCTGGAACTT 0.547000 3 230 0 0 1 0 0 XPOT 11260 broad.mit.edu 37 12 64812808 64812808 + Silent SNP C C G TCGA-EM-A3OB-01A-11D-A21Z-08 TCGA-EM-A3OB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32f66154-4799-4012-a4cf-9f492022e339 7267fa1d-9982-4712-8551-66d2fdb3778c g.chr12:64812808C>G ENST00000332707.5 + 6 952 c.423C>G c.(421-423)ctC>ctG p.L141L NM_007235.4 NP_009166.2 O43592 XPOT_HUMAN exportin, tRNA 141 Necessary for interaction with Ran, nuclear localization and nuclear import. intracellular protein transport|tRNA export from nucleus cytoplasm|nucleoplasm protein transporter activity|tRNA binding p.L141L(1) NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GBM - Glioblastoma multiforme(28;0.0404) GAGTAGATCTCTACCTGCGAA 0.398000 4 147 0 0 1 0 0 C5 727 broad.mit.edu 37 9 123725972 123725972 + Missense_Mutation SNP G G A TCGA-EM-A3OB-01A-11D-A21Z-08 TCGA-EM-A3OB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32f66154-4799-4012-a4cf-9f492022e339 7267fa1d-9982-4712-8551-66d2fdb3778c g.chr9:123725972G>A ENST00000223642.1 - 34 4294 c.4265C>T c.(4264-4266)gCg>gTg p.A1422V NM_001735.2 NP_001726.2 P01031 CO5_HUMAN complement component 5 1422 activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production extracellular space|membrane attack complex chemokine activity|endopeptidase inhibitor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242) Eculizumab(DB01257) GTCCATCACCGCATGAGAGGA 0.358000 3 79 0 0 1 0 0 WRAP53 55135 broad.mit.edu 37 17 7604998 7604998 + Silent SNP G G A rs34740153 TCGA-EM-A3OB-01A-11D-A21Z-08 TCGA-EM-A3OB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32f66154-4799-4012-a4cf-9f492022e339 7267fa1d-9982-4712-8551-66d2fdb3778c g.chr17:7604998G>A ENST00000316024.5 + 6 3194 c.846G>A c.(844-846)tcG>tcA p.S282S WRAP53_ENST00000396463.2_Silent_p.S282S|WRAP53_ENST00000431639.2_Silent_p.S282S|WRAP53_ENST00000457584.2_Silent_p.S282S|WRAP53_ENST00000534050.1_Silent_p.S249S Q9BUR4 WAP53_HUMAN WD repeat containing, antisense to TP53 282 positive regulation of telomerase activity|telomere formation via telomerase Cajal body|cytoplasm|telomerase holoenzyme complex protein binding|RNA binding endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2) 18 CAGCCCATTCGCTCTGCTTCT 0.622000 24 28 0 0 1 0 0 TVP23C 201158 broad.mit.edu 37 17 15441469 15441469 + Splice_Site SNP C C T rs139351610 by1000genomes TCGA-EM-A3OB-01A-11D-A21Z-08 TCGA-EM-A3OB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32f66154-4799-4012-a4cf-9f492022e339 7267fa1d-9982-4712-8551-66d2fdb3778c g.chr17:15441469C>T ENST00000584811.1 - 7 1815 c.e7-2 TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000428082.2_Splice_Site|TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000438826.3_Splice_Site|TVP23C_ENST00000225576.3_Intron trans-golgi network vesicle protein 23 homolog C (S. cerevisiae) TCCAGTGTTCCGCAAAAGACA 0.393000 4 145 0 0 1 0 0 ADAMTS3 9508 broad.mit.edu 37 4 73178108 73178108 + Missense_Mutation SNP T T A TCGA-EM-A3OB-01A-11D-A21Z-08 TCGA-EM-A3OB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32f66154-4799-4012-a4cf-9f492022e339 7267fa1d-9982-4712-8551-66d2fdb3778c g.chr4:73178108T>A ENST00000286657.4 - 13 1857 c.1821A>T c.(1819-1821)aaA>aaT p.K607N NM_014243.2 NP_055058.2 O15072 ATS3_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 3 607 collagen catabolic process|collagen fibril organization|proteolysis proteinaceous extracellular matrix heparin binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) CCTCAAAGTGTTTTTGGCATT 0.423000 4 96 0 0 1 0 0 CDC27 996 broad.mit.edu 37 17 45219305 45219305 + Missense_Mutation SNP T T C TCGA-EM-A3OB-01A-11D-A21Z-08 TCGA-EM-A3OB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32f66154-4799-4012-a4cf-9f492022e339 7267fa1d-9982-4712-8551-66d2fdb3778c g.chr17:45219305T>C ENST00000066544.3 - 12 1558 c.1465A>G c.(1465-1467)Agc>Ggc p.S489G CDC27_ENST00000531206.1_Missense_Mutation_p.S495G|CDC27_ENST00000446365.2_Missense_Mutation_p.S428G|CDC27_ENST00000527547.1_Missense_Mutation_p.S488G NM_001114091.1|NM_001256.3 NP_001107563.1|NP_001247.3 P30260 CDC27_HUMAN cell division cycle 27 489 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2) 90 GGTAGATGGCTCAAAATATTT 0.378000 10 421 0 0 1 0 0 ALPP 250 broad.mit.edu 37 2 233243933 233243933 + Missense_Mutation SNP G G A TCGA-EM-A3OB-01A-11D-A21Z-08 TCGA-EM-A3OB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32f66154-4799-4012-a4cf-9f492022e339 7267fa1d-9982-4712-8551-66d2fdb3778c g.chr2:233243933G>A ENST00000392027.2 + 3 486 c.217G>A c.(217-219)Gct>Act p.A73T NM_001632.3 NP_001623.3 P05187 PPB1_HUMAN alkaline phosphatase, placental 73 anchored to membrane|cell surface|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2) 22 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196) TACGGTGACAGCTGCCAGGAT 0.602000 3 91 0 0 1 0 0 OTOP3 347741 broad.mit.edu 37 17 72945406 72945406 + Nonsense_Mutation SNP C C A TCGA-EM-A3OB-01A-11D-A21Z-08 TCGA-EM-A3OB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32f66154-4799-4012-a4cf-9f492022e339 7267fa1d-9982-4712-8551-66d2fdb3778c g.chr17:72945406C>A ENST00000328801.4 + 7 1686 c.1686C>A c.(1684-1686)taC>taA p.Y562* NM_178233.1 NP_839947.1 Q7RTS5 OTOP3_HUMAN otopetrin 3 562 integral to membrane|intracellular zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_lung(278;0.151)|Lung NSC(278;0.185) AGGATTTCTACGGCTACCAGA 0.567000 3 125 0.000602214 0.000673063 1 1 0 RAB39B 116442 broad.mit.edu 37 X 154490295 154490295 + Silent SNP G G A TCGA-EM-A3OB-01A-11D-A21Z-08 TCGA-EM-A3OB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32f66154-4799-4012-a4cf-9f492022e339 7267fa1d-9982-4712-8551-66d2fdb3778c g.chrX:154490295G>A ENST00000369454.3 - 2 735 c.435C>T c.(433-435)taC>taT p.Y145Y NM_171998.2 NP_741995.1 Q96DA2 RB39B_HUMAN RAB39B, member RAS oncogene family 145 protein transport|small GTPase mediated signal transduction|synapse organization|vesicle-mediated transport Golgi apparatus|plasma membrane GTP binding breast(1)|central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(12) 19 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) ACTTCATGCCGTATGCAGCAG 0.498000 4 96 0 0 1 0 0 AMDHD1 144193 broad.mit.edu 37 12 96354366 96354366 + Missense_Mutation SNP C C T TCGA-EM-A3OB-01A-11D-A21Z-08 TCGA-EM-A3OB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32f66154-4799-4012-a4cf-9f492022e339 7267fa1d-9982-4712-8551-66d2fdb3778c g.chr12:96354366C>T ENST00000266736.2 + 5 884 c.778C>T c.(778-780)Cat>Tat p.H260Y NM_152435.2 NP_689648.2 Q96NU7 HUTI_HUMAN amidohydrolase domain containing 1 260 histidine catabolic process to glutamate and formamide cytosol imidazolonepropionase activity|metal ion binding central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1) 22 GATTAACTTCCATGGGGATGA 0.423000 11 125 0 0 1 0 0 MYOM1 8736 broad.mit.edu 37 18 3187546 3187546 + Silent SNP C C A TCGA-EM-A3OB-01A-11D-A21Z-08 TCGA-EM-A3OB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32f66154-4799-4012-a4cf-9f492022e339 7267fa1d-9982-4712-8551-66d2fdb3778c g.chr18:3187546C>A ENST00000356443.4 - 5 1194 c.861G>T c.(859-861)acG>acT p.T287T MYOM1_ENST00000261606.7_Silent_p.T287T|MYOM1_ENST00000400569.3_Silent_p.T287T NM_003803.3|NM_019856.1 NP_003794.3|NP_062830.1 P52179 MYOM1_HUMAN myomesin 1 287 Ig-like C2-type 1. striated muscle myosin thick filament structural constituent of muscle NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 TCTCCCAAACCGTGTGGGAGC 0.428000 5 127 0.014758 0.0155779 1 1 0 MYO15A 51168 broad.mit.edu 37 17 18023164 18023164 + Silent SNP C C T TCGA-EM-A3OB-01A-11D-A21Z-08 TCGA-EM-A3OB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32f66154-4799-4012-a4cf-9f492022e339 7267fa1d-9982-4712-8551-66d2fdb3778c g.chr17:18023164C>T ENST00000205890.5 + 2 1388 c.1050C>T c.(1048-1050)gaC>gaT p.D350D NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 350 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) CGCCGTACGACGCGCCATACC 0.607000 10 180 0 0 1 0 0 COL5A3 50509 broad.mit.edu 37 19 10114264 10114264 + Missense_Mutation SNP G G T TCGA-EM-A3OB-01A-11D-A21Z-08 TCGA-EM-A3OB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32f66154-4799-4012-a4cf-9f492022e339 7267fa1d-9982-4712-8551-66d2fdb3778c g.chr19:10114264G>T ENST00000264828.3 - 6 911 c.826C>A c.(826-828)Cct>Act p.P276T NM_015719.3 NP_056534.2 P25940 CO5A3_HUMAN collagen, type V, alpha 3 276 Nonhelical region. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) GAGTCAGGAGGTGGACTTGAG 0.557000 OREG0025228 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 107 4.68919e-08 5.56841e-08 1 1 0 ZNFX1 57169 broad.mit.edu 37 20 47865945 47865945 + Missense_Mutation SNP C C G TCGA-EM-A3OB-01A-11D-A21Z-08 TCGA-EM-A3OB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32f66154-4799-4012-a4cf-9f492022e339 7267fa1d-9982-4712-8551-66d2fdb3778c g.chr20:47865945C>G ENST00000396105.1 - 14 3862 c.3616G>C c.(3616-3618)Ggc>Cgc p.G1206R ZNFX1_ENST00000371754.4_Intron|ZNFX1_ENST00000371752.1_Missense_Mutation_p.G1206R NM_021035.2 NP_066363.1 Q9P2E3 ZNFX1_HUMAN zinc finger, NFX1-type containing 1 1206 metal ion binding cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1) 60 BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) CCCACCTTGCCTTCTTGGTTG 0.522000 4 205 0 0 1 0 0 IQGAP1 8826 broad.mit.edu 37 15 91016984 91016984 + Missense_Mutation SNP A A G TCGA-EM-A3OB-01A-11D-A21Z-08 TCGA-EM-A3OB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32f66154-4799-4012-a4cf-9f492022e339 7267fa1d-9982-4712-8551-66d2fdb3778c g.chr15:91016984A>G ENST00000268182.5 + 20 2511 c.2387A>G c.(2386-2388)cAa>cGa p.Q796R IQGAP1_ENST00000560738.1_Missense_Mutation_p.Q224R NM_003870.3 NP_003861.1 P46940 IQGA1_HUMAN IQ motif containing GTPase activating protein 1 796 IQ 2. energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction actin filament|cytoplasm|midbody|nucleus|plasma membrane calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488) BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194) AAGGCATATCAAGATCGGTTA 0.423000 3 56 0 0 1 0 0 UTP3 57050 broad.mit.edu 37 4 71555625 71555625 + Missense_Mutation SNP A A G TCGA-EM-A3OB-01A-11D-A21Z-08 TCGA-EM-A3OB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32f66154-4799-4012-a4cf-9f492022e339 7267fa1d-9982-4712-8551-66d2fdb3778c g.chr4:71555625A>G ENST00000254803.2 + 1 1430 c.1231A>G c.(1231-1233)Att>Gtt p.I411V NM_020368.2 NP_065101.1 Q9NQZ2 SAS10_HUMAN UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae) 411 brain development|chromatin modification|gene silencing nucleolus endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4) 18 Lung(101;0.235) AAAGAGAGCTATTACCTATCA 0.373000 49 55 0 0 1 0 0 ANXA7 310 broad.mit.edu 37 10 75156277 75156277 + Splice_Site SNP C C A TCGA-EM-A3OB-01A-11D-A21Z-08 TCGA-EM-A3OB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32f66154-4799-4012-a4cf-9f492022e339 7267fa1d-9982-4712-8551-66d2fdb3778c g.chr10:75156277C>A ENST00000372921.4 - 5 491 c.435_splice c.e5+1 p.Q145_splice ANXA7_ENST00000535178.1_Splice_Site_p.Q15_splice|ANXA7_ENST00000492380.1_5'UTR NM_001156.3 NP_001147.1 P20073 ANXA7_HUMAN annexin A7 145 calcium ion binding|calcium-dependent phospholipid binding|calcium-dependent protein binding breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1) 26 Prostate(51;0.0119) AACAAAATACCTGACTAGGGT 0.418000 3 62 1 1 1 1 0 PCDHA6 0 broad.mit.edu 37 5 140209347 140209347 + Silent SNP C C T TCGA-EM-A3OB-01A-11D-A21Z-08 TCGA-EM-A3OB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32f66154-4799-4012-a4cf-9f492022e339 7267fa1d-9982-4712-8551-66d2fdb3778c g.chr5:140209347C>T ENST00000529310.1 + 1 1785 c.1671C>T c.(1669-1671)gaC>gaT p.D557D PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron NM_018909.2|NM_031848.1|NM_031849.1 NP_061732.1|NP_114036.1|NP_114037.1 NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCGTGCTGGACGAGAACGACA 0.687000 4 133 0 0 1 0 0 RP11-417J8.6 0 broad.mit.edu 37 1 142699941 142699942 + RNA DEL TA TA - TCGA-EM-A3OB-01A-11D-A21Z-08 TCGA-EM-A3OB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32f66154-4799-4012-a4cf-9f492022e339 7267fa1d-9982-4712-8551-66d2fdb3778c g.chr1:142699941_142699942delTA ENST00000369381.2 - 0 2077 GAGGAAACACtatatatatata 0.248 4 4 --- --- --- --- TDRP 157695 broad.mit.edu 37 8 494659 494664 + In_Frame_Del DEL GGCGGC GGCGGC - rs71202629 TCGA-EM-A3OB-01A-11D-A21Z-08 TCGA-EM-A3OB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32f66154-4799-4012-a4cf-9f492022e339 7267fa1d-9982-4712-8551-66d2fdb3778c g.chr8:494659_494664delGGCGGC ENST00000324079.6 - 1 334_339 c.94_99delGCCGCC c.(94-99)del p.AA32del TDRP_ENST00000427263.2_In_Frame_Del_p.AA32del|TDRP_ENST00000523656.1_In_Frame_Del_p.AA32del testis development related protein p.A32_A33delAA(1) CCTGCGCCTGggcggcggcggcggcg 0.782 3 4 --- --- --- --- NOTCH1 4851 broad.mit.edu 37 9 139390945 139390947 + In_Frame_Del DEL GTG GTG - TCGA-EM-A3OB-01A-11D-A21Z-08 TCGA-EM-A3OB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32f66154-4799-4012-a4cf-9f492022e339 7267fa1d-9982-4712-8551-66d2fdb3778c g.chr9:139390945_139390947delGTG ENST00000277541.6 - 34 7319_7321 c.7244_7246delCAC c.(7243-7248)cag>c p.PQ2415del NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 2415 Poly-Pro. aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity p.Q2417*(2)|p.P2416fs*11(1) breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) AGGTGCGGCTGTGGTGGTGGTGG 0.650 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 7 55 --- --- --- --- MMP12 4321 broad.mit.edu 37 11 102737277 102737283 + RNA DEL TTTCCAT TTTCCAT - rs28381683 TCGA-EM-A3OB-01A-11D-A21Z-08 TCGA-EM-A3OB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32f66154-4799-4012-a4cf-9f492022e339 7267fa1d-9982-4712-8551-66d2fdb3778c g.chr11:102737277_102737283delTTTCCAT ENST00000532855.1 - 0 1007 P39900 MMP12_HUMAN matrix metallopeptidase 12 (macrophage elastase) positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 26 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.014) Acetohydroxamic Acid(DB00551) CCAATATTTCTTTCCATTGTCTTCACA 0.362 4 3 --- --- --- --- CTC-513N18.6 0 broad.mit.edu 37 19 20634341 20634341 + RNA DEL C C - TCGA-EM-A3OB-01A-11D-A21Z-08 TCGA-EM-A3OB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32f66154-4799-4012-a4cf-9f492022e339 7267fa1d-9982-4712-8551-66d2fdb3778c g.chr19:20634341delC ENST00000598131.1 + 0 160 ctcctgggttcagtgattctc 0.473 2 4 --- --- --- --- FRG1B 0 broad.mit.edu 37 20 29625899 29625900 + Frame_Shift_Ins INS - - AT TCGA-EM-A3OB-01A-11D-A21Z-08 TCGA-EM-A3OB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32f66154-4799-4012-a4cf-9f492022e339 7267fa1d-9982-4712-8551-66d2fdb3778c g.chr20:29625899_29625900insAT ENST00000278882.3 + 5 523_524 c.143_144insAT c.(142-144)atafs p.I48fs FRG1B_ENST00000358464.4_Frame_Shift_Ins_p.I48fs|FRG1B_ENST00000439954.2_Frame_Shift_Ins_p.I53fs endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGCTATGGAAAATATCTTGGTA 0.342 7 190 --- --- --- --- ARMCX3 51566 broad.mit.edu 37 X 100880152 100880154 + In_Frame_Del DEL TGA TGA - TCGA-EM-A3OB-01A-11D-A21Z-08 TCGA-EM-A3OB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32f66154-4799-4012-a4cf-9f492022e339 7267fa1d-9982-4712-8551-66d2fdb3778c g.chrX:100880152_100880154delTGA ENST00000341189.4 + 5 1049_1051 c.183_185delTGA c.(181-186)tct>tc p.SD61del ARMCX3_ENST00000471229.2_In_Frame_Del_p.SD61del|ARMCX3_ENST00000537169.1_In_Frame_Del_p.SD61del NM_016607.3 NP_057691.1 Q9UH62 ARMX3_HUMAN armadillo repeat containing, X-linked 3 61 integral to membrane binding endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2) 11 ATGACTGGTCTGATGATGATGAT 0.517 7 309 --- --- --- --- RP11-308D16.4 0 broad.mit.edu 37 X 136030245 136030245 + RNA DEL T T - TCGA-EM-A3OB-01A-11D-A21Z-08 TCGA-EM-A3OB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32f66154-4799-4012-a4cf-9f492022e339 7267fa1d-9982-4712-8551-66d2fdb3778c g.chrX:136030245delT ENST00000424306.1 + 0 2052 GAGAACCTGCTTTTTTTTTTT 0.438 3 5 --- --- --- ---