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 GLI2 2736 broad.mit.edu 37 2 121748118 121748118 + Missense_Mutation SNP G G A rs138987487 byFrequency TCGA-EM-A1CU-01A-11D-A13W-08 TCGA-EM-A1CU-10A-02D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af6e9bc-7128-4786-9192-2d369de54ae3 7ba8bd1d-42f1-4dd3-952c-0caebd89dc43 g.chr2:121748118G>A ENST00000452319.1 + 14 4688 c.4628G>A c.(4627-4629)cGc>cAc p.R1543H GLI2_ENST00000361492.4_Missense_Mutation_p.R1543H|GLI2_ENST00000314490.11_Intron P10070 GLI2_HUMAN GLI family zinc finger 2 1543 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(3;0.0496) Prostate(154;0.0623) AACTCCTCCCGCCTCACCACC 0.612000 15 112 0 0 0.146539 0 0 AIM1 202 broad.mit.edu 37 6 106992724 106992724 + Missense_Mutation SNP G G T TCGA-EM-A1CU-01A-11D-A13W-08 TCGA-EM-A1CU-10A-02D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af6e9bc-7128-4786-9192-2d369de54ae3 7ba8bd1d-42f1-4dd3-952c-0caebd89dc43 g.chr6:106992724G>T ENST00000369066.3 + 11 4491 c.4004G>T c.(4003-4005)aGt>aTt p.S1335I AIM1_ENST00000487681.1_3'UTR|AIM1_ENST00000535438.1_Missense_Mutation_p.S154I NM_001624.2 NP_001615.1 Q9Y4K1 AIM1_HUMAN absent in melanoma 1 1335 Beta/gamma crystallin 'Greek key' 7. sugar binding breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 69 Breast(9;0.0138)|all_epithelial(6;0.169) all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473) Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305) all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858) AAAGGTTCCAGTATTGATGTA 0.333000 23 97 2.21704e-12 2.8039e-12 0.076483 1 0 MT-CO1 4512 broad.mit.edu 37 MT 6978 6978 + Missense_Mutation SNP G G A TCGA-EM-A1CU-01A-11D-A13W-08 TCGA-EM-A1CU-10A-02D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af6e9bc-7128-4786-9192-2d369de54ae3 7ba8bd1d-42f1-4dd3-952c-0caebd89dc43 g.chrM:6978G>A ENST00000361624.2 + 1 1075 c.1075G>A c.(1075-1077)Gca>Aca p.359_359insT mitochondrially encoded cytochrome c oxidase I breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3) 54 GCATTGTATTAGCAAACTCAT 0.458000 20 25 0 0 0.099896 0 0 MUC4 4585 broad.mit.edu 37 3 195505836 195505836 + Missense_Mutation SNP G G C TCGA-EM-A1CU-01A-11D-A13W-08 TCGA-EM-A1CU-10A-02D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af6e9bc-7128-4786-9192-2d369de54ae3 7ba8bd1d-42f1-4dd3-952c-0caebd89dc43 g.chr3:195505836G>C ENST00000463781.3 - 2 13074 c.12615C>G c.(12613-12615)caC>caG p.H4205Q MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 968 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity p.H4205Q(10) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GAGGGGTGGCGTGACCTGTGG 0.597000 2 5 0 0 0.115264 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522786 95522786 + RNA SNP T T C TCGA-EM-A1CU-01A-11D-A13W-08 TCGA-EM-A1CU-10A-02D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af6e9bc-7128-4786-9192-2d369de54ae3 7ba8bd1d-42f1-4dd3-952c-0caebd89dc43 g.chr2:95522786T>C ENST00000432432.2 - 0 241 NR_040113.1 p.K44K(1) CGGCGTCGCCTTTGACAGCTG 0.687000 3 50 0 0 0.009096 0 0 OAS3 4940 broad.mit.edu 37 12 113388602 113388602 + Silent SNP C C T TCGA-EM-A1CU-01A-11D-A13W-08 TCGA-EM-A1CU-10A-02D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af6e9bc-7128-4786-9192-2d369de54ae3 7ba8bd1d-42f1-4dd3-952c-0caebd89dc43 g.chr12:113388602C>T ENST00000228928.7 + 7 1658 c.1479C>T c.(1477-1479)cgC>cgT p.R493R RP1-71H24.1_ENST00000552784.1_RNA NM_006187.2 NP_006178.2 Q9Y6K5 OAS3_HUMAN 2'-5'-oligoadenylate synthetase 3, 100kDa 493 OAS domain 2. interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway microsome ATP binding|nucleotidyltransferase activity|RNA binding breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2) 27 GGCCCCGCCGCGCAGAGATCC 0.582000 23 95 0 0 0.083992 0 0 MT-TL1 0 broad.mit.edu 37 MT 3248 3248 + RNA SNP G G A TCGA-EM-A1CU-01A-11D-A13W-08 TCGA-EM-A1CU-10A-02D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af6e9bc-7128-4786-9192-2d369de54ae3 7ba8bd1d-42f1-4dd3-952c-0caebd89dc43 g.chrM:3248G>A ENST00000386347.1 + 0 19 tggcagagcccggtaatcgca 0.438000 5 57 0 0 0.014758 0 0 NCKAP1L 3071 broad.mit.edu 37 12 54936440 54936440 + Missense_Mutation SNP G G A TCGA-EM-A1CU-01A-11D-A13W-08 TCGA-EM-A1CU-10A-02D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af6e9bc-7128-4786-9192-2d369de54ae3 7ba8bd1d-42f1-4dd3-952c-0caebd89dc43 g.chr12:54936440G>A ENST00000293373.6 + 31 3434 c.3355G>A c.(3355-3357)Gag>Aag p.E1119K NCKAP1L_ENST00000545638.2_Missense_Mutation_p.E1069K NM_005337.4 NP_005328.2 P55160 NCKPL_HUMAN NCK-associated protein 1-like 1119 actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis cytosol|integral to plasma membrane|membrane fraction|SCAR complex protein complex binding|protein kinase activator activity|Rac GTPase activator activity NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2) 80 TGCCTATCGGGAGGTGTCTCG 0.542000 7 113 0 0 0.029380 0 0 MT-ND6 4541 broad.mit.edu 37 MT 14285 14285 + Missense_Mutation SNP T T C TCGA-EM-A1CU-01A-11D-A13W-08 TCGA-EM-A1CU-10A-02D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af6e9bc-7128-4786-9192-2d369de54ae3 7ba8bd1d-42f1-4dd3-952c-0caebd89dc43 g.chrM:14285T>C ENST00000361681.2 - 1 388 c.389A>G c.(388-390)gAg>gGg p.E130G mitochondrially encoded NADH dehydrogenase 6 breast(1)|endometrium(10)|kidney(17)|urinary_tract(1) 29 ACCCTGACCCCTCTCCTTCAT 0.458000 5 53 0 0 0.014758 0 0 TSPAN14 81619 broad.mit.edu 37 10 82267030 82267030 + Missense_Mutation SNP A A G TCGA-EM-A1CU-01A-11D-A13W-08 TCGA-EM-A1CU-10A-02D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af6e9bc-7128-4786-9192-2d369de54ae3 7ba8bd1d-42f1-4dd3-952c-0caebd89dc43 g.chr10:82267030A>G ENST00000429989.2 + 4 402 c.179A>G c.(178-180)gAc>gGc p.D60G TSPAN14_ENST00000481124.1_Intron|TSPAN14_ENST00000341863.6_Missense_Mutation_p.D60G|TSPAN14_ENST00000372156.1_Missense_Mutation_p.D60G|TSPAN14_ENST00000372158.1_Missense_Mutation_p.D60G|TSPAN14_ENST00000372164.3_Missense_Mutation_p.D43G NM_030927.2 NP_112189.2 Q8NG11 TSN14_HUMAN tetraspanin 14 60 integral to membrane central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1) 7 Colorectal(32;0.229) CATGGAATCGACCCTGTGGTG 0.592000 3 40 0 0 0.014758 0 0 BSN 8927 broad.mit.edu 37 3 49691153 49691153 + Silent SNP T T C TCGA-EM-A1CU-01A-11D-A13W-08 TCGA-EM-A1CU-10A-02D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af6e9bc-7128-4786-9192-2d369de54ae3 7ba8bd1d-42f1-4dd3-952c-0caebd89dc43 g.chr3:49691153T>C ENST00000296452.4 + 5 4278 c.4164T>C c.(4162-4164)ccT>ccC p.P1388P NM_003458.3 NP_003449.2 Q9UPA5 BSN_HUMAN bassoon presynaptic cytomatrix protein 1388 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) CTGTGGCTCCTTGTCCAGCTG 0.622000 8 51 0 0 0.105934 0 0 HIST1H4B 8366 broad.mit.edu 37 6 26027331 26027331 + Missense_Mutation SNP C C G TCGA-EM-A1CU-01A-11D-A13W-08 TCGA-EM-A1CU-10A-02D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af6e9bc-7128-4786-9192-2d369de54ae3 7ba8bd1d-42f1-4dd3-952c-0caebd89dc43 g.chr6:26027331C>G ENST00000377364.3 - 1 149 c.150G>C c.(148-150)ttG>ttC p.L50F NM_003544.2 NP_003535.1 P62805 H4_HUMAN histone cluster 1, H4b 50 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding large_intestine(4)|lung(6)|ovary(2)|upper_aerodigestive_tract(1) 13 CCTCATAAATCAAACCGGAAA 0.562000 25 46 0 0 0.116897 0 0 AQP7 364 broad.mit.edu 37 9 33385614 33385614 + Missense_Mutation SNP A A T rs140995428 by1000genomes TCGA-EM-A1CU-01A-11D-A13W-08 TCGA-EM-A1CU-10A-02D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af6e9bc-7128-4786-9192-2d369de54ae3 7ba8bd1d-42f1-4dd3-952c-0caebd89dc43 g.chr9:33385614A>T ENST00000541274.1 - 5 830 c.381T>A c.(379-381)agT>agA p.S127R AQP7_ENST00000377425.4_Intron|AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000537089.1_3'UTR O14520 AQP7_HUMAN aquaporin 7 0 excretion|generation of precursor metabolites and energy cell-cell junction|cytoplasm|integral to plasma membrane glycerol channel activity|water channel activity NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.191) CCACAGAAAAACTCAAAGGAA 0.632000 6 76 0 0 0.021553 0 0 MAGED1 9500 broad.mit.edu 37 X 51644751 51644751 + Missense_Mutation SNP G G A TCGA-EM-A1CU-01A-11D-A13W-08 TCGA-EM-A1CU-10A-02D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af6e9bc-7128-4786-9192-2d369de54ae3 7ba8bd1d-42f1-4dd3-952c-0caebd89dc43 g.chrX:51644751G>A ENST00000375695.2 + 13 2383 c.2230G>A c.(2230-2232)Gct>Act p.A744T MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000375722.1_Missense_Mutation_p.A688T|MAGED1_ENST00000375772.3_Missense_Mutation_p.A688T|MAGED1_ENST00000326587.7_Missense_Mutation_p.A688T NM_001005333.1 NP_001005333.1 Q9Y5V3 MAGD1_HUMAN melanoma antigen family D, 1 688 apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent cytoplasm|plasma membrane|protein complex protein binding breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1) 32 Ovarian(276;0.236) CGAAGCCCGGGCTGAAGCAAG 0.577000 Multiple Myeloma(10;0.10) 17 5 0 0 0.033300 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664606 22664606 + RNA SNP A A G TCGA-EM-A1CU-01A-11D-A13W-08 TCGA-EM-A1CU-10A-02D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af6e9bc-7128-4786-9192-2d369de54ae3 7ba8bd1d-42f1-4dd3-952c-0caebd89dc43 g.chr22:22664606A>G ENST00000426066.1 + 0 787 NR_027293.1 GTCTTCATGCAAACTTGGTAT 0.398000 3 50 0 0 0.115264 0 0 MUC17 140453 broad.mit.edu 37 7 100684160 100684160 + Missense_Mutation SNP C C T TCGA-EM-A1CU-01A-11D-A13W-08 TCGA-EM-A1CU-10A-02D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af6e9bc-7128-4786-9192-2d369de54ae3 7ba8bd1d-42f1-4dd3-952c-0caebd89dc43 g.chr7:100684160C>T ENST00000306151.4 + 3 9527 c.9463C>T c.(9463-9465)Cca>Tca p.P3155S NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 3155 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) TACCAGCATGCCAACCTCAAC 0.478000 6 382 0 0 0.021553 0 0 DNM1P47 0 broad.mit.edu 37 15 102292785 102292785 + RNA SNP C C G rs61084368 TCGA-EM-A1CU-01A-11D-A13W-08 TCGA-EM-A1CU-10A-02D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af6e9bc-7128-4786-9192-2d369de54ae3 7ba8bd1d-42f1-4dd3-952c-0caebd89dc43 g.chr15:102292785C>G ENST00000561463.1 + 0 831 p.Q125E(1) TGCTGCTTCTCAGAGCTGCTG 0.602000 4 17 0 0 0.014758 0 0 CAMKV 79012 broad.mit.edu 37 3 49898222 49898222 + Missense_Mutation SNP C C A TCGA-EM-A1CU-01A-11D-A13W-08 TCGA-EM-A1CU-10A-02D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af6e9bc-7128-4786-9192-2d369de54ae3 7ba8bd1d-42f1-4dd3-952c-0caebd89dc43 g.chr3:49898222C>A ENST00000477224.1 - 8 1180 c.702G>T c.(700-702)aaG>aaT p.K234N CAMKV_ENST00000488336.1_Missense_Mutation_p.K234N|CAMKV_ENST00000296471.7_Missense_Mutation_p.K206N|CAMKV_ENST00000463537.1_Missense_Mutation_p.K234N|CAMKV_ENST00000467248.1_Missense_Mutation_p.K159N|CAMKV_ENST00000466940.1_Missense_Mutation_p.K191N Q8NCB2 CAMKV_HUMAN CaM kinase-like vesicle-associated 234 Protein kinase. cytoplasmic vesicle membrane|plasma membrane ATP binding|protein serine/threonine kinase activity central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2) 7 BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) GGAAGAGATTCTTATCATGGT 0.502000 21 142 1.96292e-10 2.41159e-10 0.055883 1 0 MAML1 9794 broad.mit.edu 37 5 179200917 179200917 + Missense_Mutation SNP G G A TCGA-EM-A1CU-01A-11D-A13W-08 TCGA-EM-A1CU-10A-02D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af6e9bc-7128-4786-9192-2d369de54ae3 7ba8bd1d-42f1-4dd3-952c-0caebd89dc43 g.chr5:179200917G>A ENST00000292599.3 + 5 2353 c.2090G>A c.(2089-2091)gGc>gAc p.G697D MAML1_ENST00000503050.1_Intron NM_014757.4 NP_055572.1 Q92585 MAML1_HUMAN mastermind-like 1 (Drosophila) 697 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck peptide antigen binding|protein kinase binding|transcription coactivator activity central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 36 all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218) all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GCCGTGCCCGGCATGAACACC 0.587000 4 132 0 0 0.014758 0 0 UBBP4 0 broad.mit.edu 37 17 21730916 21730916 + Missense_Mutation SNP G G T rs111245273 by1000genomes TCGA-EM-A1CU-01A-11D-A13W-08 TCGA-EM-A1CU-10A-02D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af6e9bc-7128-4786-9192-2d369de54ae3 7ba8bd1d-42f1-4dd3-952c-0caebd89dc43 g.chr17:21730916G>T ENST00000584755.1 + 2 615 c.218G>T c.(217-219)cGg>cTg p.R73L UBBP4_ENST00000578713.1_Missense_Mutation_p.R73L|UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000583708.1_Intron p.R73L(24) endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GTCCTGCGTCGGAGAGGTGGT 0.552000 3 36 0.004672 0.00542962 0.115264 1 0 BBX 56987 broad.mit.edu 37 3 107429455 107429455 + Missense_Mutation SNP G G A TCGA-EM-A1CU-01A-11D-A13W-08 TCGA-EM-A1CU-10A-02D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af6e9bc-7128-4786-9192-2d369de54ae3 7ba8bd1d-42f1-4dd3-952c-0caebd89dc43 g.chr3:107429455G>A ENST00000415149.2 + 4 475 c.148G>A c.(148-150)Gag>Aag p.E50K BBX_ENST00000406780.1_Missense_Mutation_p.E50K|BBX_ENST00000325805.8_Missense_Mutation_p.E50K|BBX_ENST00000416476.2_Missense_Mutation_p.E50K|BBX_ENST00000402543.1_Missense_Mutation_p.E50K NM_001142568.1|NM_020235.5 NP_001136040.1|NP_064620.2 Q8WY36 BBX_HUMAN bobby sox homolog (Drosophila) 50 Poly-Glu. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2) 49 OV - Ovarian serous cystadenocarcinoma(3;0.112) agacgaagaggaggaTATTGA 0.348000 6 33 0 0 0.021553 0 0 DNM1P46 0 broad.mit.edu 37 15 100340293 100340293 + RNA SNP C C G rs142617387 by1000genomes TCGA-EM-A1CU-01A-11D-A13W-08 TCGA-EM-A1CU-10A-02D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af6e9bc-7128-4786-9192-2d369de54ae3 7ba8bd1d-42f1-4dd3-952c-0caebd89dc43 g.chr15:100340293C>G ENST00000341853.1 - 0 633 NR_003260.1 GCCGACTCCTCCACGAGTGTC 0.632000 4 12 0 0 0.009096 0 0 MUC16 94025 broad.mit.edu 37 19 9082462 9082462 + Missense_Mutation SNP G G A TCGA-EM-A1CU-01A-11D-A13W-08 TCGA-EM-A1CU-10A-02D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af6e9bc-7128-4786-9192-2d369de54ae3 7ba8bd1d-42f1-4dd3-952c-0caebd89dc43 g.chr19:9082462G>A ENST00000397910.4 - 1 9556 c.9353C>T c.(9352-9354)tCt>tTt p.S3118F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 3119 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGGGGTCTCAGATGGTGTGAA 0.483000 5 258 0 0 0.014758 0 0 FAM179A 165186 broad.mit.edu 37 2 29226385 29226385 + Missense_Mutation SNP T T A TCGA-EM-A1CU-01A-11D-A13W-08 TCGA-EM-A1CU-10A-02D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af6e9bc-7128-4786-9192-2d369de54ae3 7ba8bd1d-42f1-4dd3-952c-0caebd89dc43 g.chr2:29226385T>A ENST00000379558.4 + 6 1018 c.667T>A c.(667-669)Tgc>Agc p.C223S FAM179A_ENST00000403861.2_Missense_Mutation_p.C223S NM_199280.2 NP_954974.2 Q6ZUX3 F179A_HUMAN family with sequence similarity 179, member A 223 binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 ATACCTGCACTGCAATGATGA 0.622000 4 4 0 0 0.009096 0 0 KRTAP10-5 386680 broad.mit.edu 37 21 45999747 45999747 + Missense_Mutation SNP T T C TCGA-EM-A1CU-01A-11D-A13W-08 TCGA-EM-A1CU-10A-02D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af6e9bc-7128-4786-9192-2d369de54ae3 7ba8bd1d-42f1-4dd3-952c-0caebd89dc43 g.chr21:45999747T>C ENST00000400372.1 - 1 734 c.709A>G c.(709-711)Atc>Gtc p.I237V TSPEAR_ENST00000323084.4_Intron NM_198694.2 NP_941967.2 P60370 KR105_HUMAN keratin associated protein 10-5 237 22 X 5 AA repeats of C-C-X(3). keratin filament endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1) 14 CAGGAGGAGATGGGCACGCAG 0.716000 4 41 0 0 0.029380 0 0 HSPA8 3312 broad.mit.edu 37 11 122931873 122931873 + Missense_Mutation SNP C C T TCGA-EM-A1CU-01A-11D-A13W-08 TCGA-EM-A1CU-10A-02D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af6e9bc-7128-4786-9192-2d369de54ae3 7ba8bd1d-42f1-4dd3-952c-0caebd89dc43 g.chr11:122931873C>T ENST00000534624.1 - 2 436 c.160G>A c.(160-162)Gcc>Acc p.A54T HSPA8_ENST00000533540.1_Missense_Mutation_p.A54T|HSPA8_ENST00000227378.3_Missense_Mutation_p.A54T|HSPA8_ENST00000532636.1_Missense_Mutation_p.A54T|HSPA8_ENST00000526110.1_Missense_Mutation_p.A54T|HSPA8_ENST00000453788.2_Missense_Mutation_p.A54T NM_006597.4 NP_006588.1 P11142 HSP7C_HUMAN heat shock 70kDa protein 8 54 cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex ATP binding|ATPase activity, coupled|protein binding breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1) 36 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) TTCTTTGCGGCATCACCGATC 0.438000 9 64 0 0 0.047766 0 0 ABCC5 10057 broad.mit.edu 37 3 183655701 183655701 + Missense_Mutation SNP C C A TCGA-EM-A1CU-01A-11D-A13W-08 TCGA-EM-A1CU-10A-02D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af6e9bc-7128-4786-9192-2d369de54ae3 7ba8bd1d-42f1-4dd3-952c-0caebd89dc43 g.chr3:183655701C>A ENST00000334444.6 - 26 4082 c.3842G>T c.(3841-3843)aGt>aTt p.S1281I ABCC5_ENST00000265586.6_Missense_Mutation_p.S1238I NM_005688.2 NP_005679.2 O15440 MRP5_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 5 1281 ABC transporter 2. integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_cancers(143;1.85e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) GACAGTGCCACTGAACAGCAC 0.552000 9 49 0.000274275 0.000327606 0.047766 1 0 IFT46 56912 broad.mit.edu 37 11 118422948 118422948 + Missense_Mutation SNP C C T TCGA-EM-A1CU-01A-11D-A13W-08 TCGA-EM-A1CU-10A-02D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af6e9bc-7128-4786-9192-2d369de54ae3 7ba8bd1d-42f1-4dd3-952c-0caebd89dc43 g.chr11:118422948C>T ENST00000264020.2 - 9 1116 c.739G>A c.(739-741)Gcg>Acg p.A247T IFT46_ENST00000264021.3_Missense_Mutation_p.A196T|IFT46_ENST00000530872.1_Missense_Mutation_p.A247T NM_020153.3 NP_064538.3 Q9NQC8 IFT46_HUMAN intraflagellar transport 46 homolog (Chlamydomonas) 196 flagellum assembly|intraflagellar transport|protein stabilization microtubule basal body|microtubule-based flagellum|nucleus protein C-terminus binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4) 9 TGCACAGTCGCAGGGGGCTTA 0.443000 5 154 0 0 0.014758 0 0 SIK1 150094 broad.mit.edu 37 21 44836663 44836663 + Silent SNP G G A TCGA-EM-A1CU-01A-11D-A13W-08 TCGA-EM-A1CU-10A-02D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af6e9bc-7128-4786-9192-2d369de54ae3 7ba8bd1d-42f1-4dd3-952c-0caebd89dc43 g.chr21:44836663G>A ENST00000270162.6 - 14 2443 c.2311C>T c.(2311-2313)Ctg>Ttg p.L771L NM_173354.3 NP_775490.2 P57059 SIK1_HUMAN salt-inducible kinase 1 771 anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1) 21 CAGGGCATCAGGTCCTCCATC 0.657000 9 26 0 0 0.058154 0 0 UGT1A1 0 broad.mit.edu 37 2 234669699 234669699 + Missense_Mutation SNP T T C TCGA-EM-A1CU-01A-11D-A13W-08 TCGA-EM-A1CU-10A-02D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af6e9bc-7128-4786-9192-2d369de54ae3 7ba8bd1d-42f1-4dd3-952c-0caebd89dc43 g.chr2:234669699T>C ENST00000360418.3 + 1 766 c.766T>C c.(766-768)Ttt>Ctt p.F256L UGT1A7_ENST00000373426.3_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A3_ENST00000482026.1_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A1_ENST00000305208.5_Missense_Mutation_p.F256L|UGT1A10_ENST00000344644.5_Intron|UGT1A5_ENST00000373414.3_Intron P22309 UD11_HUMAN 256 bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process endoplasmic reticulum membrane|microsome enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2) 30 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054) Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197) TGTCTGGCTGTTTAGAAGTGA 0.483000 5 184 0 0 0.014758 0 0 DST 667 broad.mit.edu 37 6 56707935 56707935 + Silent SNP A A C TCGA-EM-A1CU-01A-11D-A13W-08 TCGA-EM-A1CU-10A-02D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af6e9bc-7128-4786-9192-2d369de54ae3 7ba8bd1d-42f1-4dd3-952c-0caebd89dc43 g.chr6:56707935A>C ENST00000370769.4 - 1 8 c.9T>G c.(7-9)ggT>ggG p.G3G DST_ENST00000361203.3_Silent_p.G3G|DST_ENST00000421834.2_Silent_p.G3G|DST_ENST00000312431.6_Silent_p.G3G|DST_ENST00000370788.2_Silent_p.G3G|DST_ENST00000370754.5_Intron Q03001 DYST_HUMAN dystonin 3 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) GGGAGAGGTAACCCGCCATGC 0.562000 5 10 0 0 0.033300 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EM-A1CU-01A-11D-A13W-08 TCGA-EM-A1CU-10A-02D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af6e9bc-7128-4786-9192-2d369de54ae3 7ba8bd1d-42f1-4dd3-952c-0caebd89dc43 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). 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.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(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) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 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 34 55 0 0 0.069456 0 0 PCLO 27445 broad.mit.edu 37 7 82545550 82545550 + Nonsense_Mutation SNP G G A TCGA-EM-A1CU-01A-11D-A13W-08 TCGA-EM-A1CU-10A-02D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af6e9bc-7128-4786-9192-2d369de54ae3 7ba8bd1d-42f1-4dd3-952c-0caebd89dc43 g.chr7:82545550G>A ENST00000423517.2 - 7 12089 c.11752C>T c.(11752-11754)Caa>Taa p.Q3918* PCLO_ENST00000437081.1_Nonsense_Mutation_p.Q638*|PCLO_ENST00000333891.8_Nonsense_Mutation_p.Q3918* NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 3849 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GGTGAAACTTGCTGATGGTAC 0.458000 7 433 0 0 0.029380 0 0 AC006293.3 0 broad.mit.edu 37 19 55221935 55221935 + RNA SNP G G A rs45588833 by1000genomes TCGA-EM-A1CU-01A-11D-A13W-08 TCGA-EM-A1CU-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af6e9bc-7128-4786-9192-2d369de54ae3 b186202a-9853-4a96-8780-e8eb6f28981b g.chr19:55221935G>A ENST00000413439.1 + 0 1462 CGGGCCCCACGGTGGCCTCAG 0.637000 4 41 0 0 0.021553 0 0 GLI2 2736 broad.mit.edu 37 2 121748118 121748118 + Missense_Mutation SNP G G A rs138987487 byFrequency TCGA-EM-A1CU-01A-11D-A13W-08 TCGA-EM-A1CU-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af6e9bc-7128-4786-9192-2d369de54ae3 b186202a-9853-4a96-8780-e8eb6f28981b g.chr2:121748118G>A ENST00000452319.1 + 14 4688 c.4628G>A c.(4627-4629)cGc>cAc p.R1543H GLI2_ENST00000314490.11_Intron|GLI2_ENST00000361492.4_Missense_Mutation_p.R1543H P10070 GLI2_HUMAN GLI family zinc finger 2 1543 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(3;0.0496) Prostate(154;0.0623) AACTCCTCCCGCCTCACCACC 0.612000 15 112 0 0 0.146539 0 0 AIM1 202 broad.mit.edu 37 6 106992724 106992724 + Missense_Mutation SNP G G T TCGA-EM-A1CU-01A-11D-A13W-08 TCGA-EM-A1CU-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af6e9bc-7128-4786-9192-2d369de54ae3 b186202a-9853-4a96-8780-e8eb6f28981b g.chr6:106992724G>T ENST00000369066.3 + 11 4491 c.4004G>T c.(4003-4005)aGt>aTt p.S1335I AIM1_ENST00000535438.1_Missense_Mutation_p.S154I|AIM1_ENST00000487681.1_3'UTR NM_001624.2 NP_001615.1 Q9Y4K1 AIM1_HUMAN absent in melanoma 1 1335 Beta/gamma crystallin 'Greek key' 7. sugar binding breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 69 Breast(9;0.0138)|all_epithelial(6;0.169) all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473) Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305) all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858) AAAGGTTCCAGTATTGATGTA 0.333000 23 97 2.21704e-12 2.85047e-12 0.076483 1 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522786 95522786 + RNA SNP T T C TCGA-EM-A1CU-01A-11D-A13W-08 TCGA-EM-A1CU-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af6e9bc-7128-4786-9192-2d369de54ae3 b186202a-9853-4a96-8780-e8eb6f28981b g.chr2:95522786T>C ENST00000432432.2 - 0 241 NR_040113.1 p.K44K(1) CGGCGTCGCCTTTGACAGCTG 0.687000 3 50 0 0 0.009096 0 0 OAS3 4940 broad.mit.edu 37 12 113388602 113388602 + Silent SNP C C T TCGA-EM-A1CU-01A-11D-A13W-08 TCGA-EM-A1CU-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af6e9bc-7128-4786-9192-2d369de54ae3 b186202a-9853-4a96-8780-e8eb6f28981b g.chr12:113388602C>T ENST00000228928.7 + 7 1658 c.1479C>T c.(1477-1479)cgC>cgT p.R493R RP1-71H24.1_ENST00000552784.1_RNA NM_006187.2 NP_006178.2 Q9Y6K5 OAS3_HUMAN 2'-5'-oligoadenylate synthetase 3, 100kDa 493 OAS domain 2. interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway microsome ATP binding|nucleotidyltransferase activity|RNA binding breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2) 27 GGCCCCGCCGCGCAGAGATCC 0.582000 23 95 0 0 0.083992 0 0 NCKAP1L 3071 broad.mit.edu 37 12 54936440 54936440 + Missense_Mutation SNP G G A TCGA-EM-A1CU-01A-11D-A13W-08 TCGA-EM-A1CU-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af6e9bc-7128-4786-9192-2d369de54ae3 b186202a-9853-4a96-8780-e8eb6f28981b g.chr12:54936440G>A ENST00000293373.6 + 31 3434 c.3355G>A c.(3355-3357)Gag>Aag p.E1119K NCKAP1L_ENST00000545638.2_Missense_Mutation_p.E1069K NM_005337.4 NP_005328.2 P55160 NCKPL_HUMAN NCK-associated protein 1-like 1119 actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis cytosol|integral to plasma membrane|membrane fraction|SCAR complex protein complex binding|protein kinase activator activity|Rac GTPase activator activity NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2) 80 TGCCTATCGGGAGGTGTCTCG 0.542000 7 113 0 0 0.029380 0 0 SIK1 150094 broad.mit.edu 37 21 44836663 44836663 + Silent SNP G G A TCGA-EM-A1CU-01A-11D-A13W-08 TCGA-EM-A1CU-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af6e9bc-7128-4786-9192-2d369de54ae3 b186202a-9853-4a96-8780-e8eb6f28981b g.chr21:44836663G>A ENST00000270162.6 - 14 2443 c.2311C>T c.(2311-2313)Ctg>Ttg p.L771L NM_173354.3 NP_775490.2 P57059 SIK1_HUMAN salt-inducible kinase 1 771 anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1) 21 CAGGGCATCAGGTCCTCCATC 0.657000 9 26 0 0 0.058154 0 0 MT-ND6 4541 broad.mit.edu 37 MT 14285 14285 + Missense_Mutation SNP T T C TCGA-EM-A1CU-01A-11D-A13W-08 TCGA-EM-A1CU-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af6e9bc-7128-4786-9192-2d369de54ae3 b186202a-9853-4a96-8780-e8eb6f28981b g.chrM:14285T>C ENST00000361681.2 - 1 388 c.389A>G c.(388-390)gAg>gGg p.E130G mitochondrially encoded NADH dehydrogenase 6 breast(1)|endometrium(10)|kidney(17)|urinary_tract(1) 29 ACCCTGACCCCTCTCCTTCAT 0.458000 5 53 0 0 0.014758 0 0 TSPAN14 81619 broad.mit.edu 37 10 82267030 82267030 + Missense_Mutation SNP A A G TCGA-EM-A1CU-01A-11D-A13W-08 TCGA-EM-A1CU-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af6e9bc-7128-4786-9192-2d369de54ae3 b186202a-9853-4a96-8780-e8eb6f28981b g.chr10:82267030A>G ENST00000429989.2 + 4 402 c.179A>G c.(178-180)gAc>gGc p.D60G TSPAN14_ENST00000372158.1_Missense_Mutation_p.D60G|TSPAN14_ENST00000341863.6_Missense_Mutation_p.D60G|TSPAN14_ENST00000481124.1_Intron|TSPAN14_ENST00000372164.3_Missense_Mutation_p.D43G|TSPAN14_ENST00000372156.1_Missense_Mutation_p.D60G NM_030927.2 NP_112189.2 Q8NG11 TSN14_HUMAN tetraspanin 14 60 integral to membrane central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1) 7 Colorectal(32;0.229) CATGGAATCGACCCTGTGGTG 0.592000 3 40 0 0 0.014758 0 0 HIST1H4B 8366 broad.mit.edu 37 6 26027331 26027331 + Missense_Mutation SNP C C G TCGA-EM-A1CU-01A-11D-A13W-08 TCGA-EM-A1CU-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af6e9bc-7128-4786-9192-2d369de54ae3 b186202a-9853-4a96-8780-e8eb6f28981b g.chr6:26027331C>G ENST00000377364.3 - 1 149 c.150G>C c.(148-150)ttG>ttC p.L50F NM_003544.2 NP_003535.1 P62805 H4_HUMAN histone cluster 1, H4b 50 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding large_intestine(4)|lung(6)|ovary(2)|upper_aerodigestive_tract(1) 13 CCTCATAAATCAAACCGGAAA 0.562000 25 46 0 0 0.116897 0 0 LINC00969 0 broad.mit.edu 37 3 195400728 195400728 + RNA SNP A A G rs12107841 by1000genomes TCGA-EM-A1CU-01A-11D-A13W-08 TCGA-EM-A1CU-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af6e9bc-7128-4786-9192-2d369de54ae3 b186202a-9853-4a96-8780-e8eb6f28981b g.chr3:195400728A>G ENST00000445430.1 + 0 1324 GATTGTGCCCAGCCTGTACGC 0.587000 5 51 0 0 0.029380 0 0 MAGED1 9500 broad.mit.edu 37 X 51644751 51644751 + Missense_Mutation SNP G G A TCGA-EM-A1CU-01A-11D-A13W-08 TCGA-EM-A1CU-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af6e9bc-7128-4786-9192-2d369de54ae3 b186202a-9853-4a96-8780-e8eb6f28981b g.chrX:51644751G>A ENST00000375695.2 + 13 2383 c.2230G>A c.(2230-2232)Gct>Act p.A744T MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000375772.3_Missense_Mutation_p.A688T|MAGED1_ENST00000375722.1_Missense_Mutation_p.A688T|MAGED1_ENST00000326587.7_Missense_Mutation_p.A688T NM_001005333.1 NP_001005333.1 Q9Y5V3 MAGD1_HUMAN melanoma antigen family D, 1 688 apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent cytoplasm|plasma membrane|protein complex protein binding breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1) 32 Ovarian(276;0.236) CGAAGCCCGGGCTGAAGCAAG 0.577000 Multiple Myeloma(10;0.10) 17 5 0 0 0.033300 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-EM-A1CU-01A-11D-A13W-08 TCGA-EM-A1CU-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af6e9bc-7128-4786-9192-2d369de54ae3 b186202a-9853-4a96-8780-e8eb6f28981b g.chr1:16918653C>T ENST00000430580.2 - 6 853 c.e6+1 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418000 4 97 0 0 0.038147 0 0 CAMKV 79012 broad.mit.edu 37 3 49898222 49898222 + Missense_Mutation SNP C C A TCGA-EM-A1CU-01A-11D-A13W-08 TCGA-EM-A1CU-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af6e9bc-7128-4786-9192-2d369de54ae3 b186202a-9853-4a96-8780-e8eb6f28981b g.chr3:49898222C>A ENST00000477224.1 - 8 1180 c.702G>T c.(700-702)aaG>aaT p.K234N CAMKV_ENST00000466940.1_Missense_Mutation_p.K191N|CAMKV_ENST00000296471.7_Missense_Mutation_p.K206N|CAMKV_ENST00000488336.1_Missense_Mutation_p.K234N|CAMKV_ENST00000463537.1_Missense_Mutation_p.K234N|CAMKV_ENST00000467248.1_Missense_Mutation_p.K159N Q8NCB2 CAMKV_HUMAN CaM kinase-like vesicle-associated 234 Protein kinase. cytoplasmic vesicle membrane|plasma membrane ATP binding|protein serine/threonine kinase activity central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2) 7 BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) GGAAGAGATTCTTATCATGGT 0.502000 21 142 1.96292e-10 2.45365e-10 0.055883 1 0 MAML1 9794 broad.mit.edu 37 5 179200917 179200917 + Missense_Mutation SNP G G A TCGA-EM-A1CU-01A-11D-A13W-08 TCGA-EM-A1CU-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af6e9bc-7128-4786-9192-2d369de54ae3 b186202a-9853-4a96-8780-e8eb6f28981b g.chr5:179200917G>A ENST00000292599.3 + 5 2353 c.2090G>A c.(2089-2091)gGc>gAc p.G697D MAML1_ENST00000503050.1_Intron NM_014757.4 NP_055572.1 Q92585 MAML1_HUMAN mastermind-like 1 (Drosophila) 697 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck peptide antigen binding|protein kinase binding|transcription coactivator activity central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 36 all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218) all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GCCGTGCCCGGCATGAACACC 0.587000 4 132 0 0 0.014758 0 0 UBBP4 0 broad.mit.edu 37 17 21730916 21730916 + Missense_Mutation SNP G G T rs111245273 by1000genomes TCGA-EM-A1CU-01A-11D-A13W-08 TCGA-EM-A1CU-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af6e9bc-7128-4786-9192-2d369de54ae3 b186202a-9853-4a96-8780-e8eb6f28981b g.chr17:21730916G>T ENST00000584755.1 + 2 615 c.218G>T c.(217-219)cGg>cTg p.R73L UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000578713.1_Missense_Mutation_p.R73L p.R73L(24) endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GTCCTGCGTCGGAGAGGTGGT 0.552000 3 36 0.004672 0.005256 0.115264 1 0 BBX 56987 broad.mit.edu 37 3 107429455 107429455 + Missense_Mutation SNP G G A TCGA-EM-A1CU-01A-11D-A13W-08 TCGA-EM-A1CU-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af6e9bc-7128-4786-9192-2d369de54ae3 b186202a-9853-4a96-8780-e8eb6f28981b g.chr3:107429455G>A ENST00000415149.2 + 4 475 c.148G>A c.(148-150)Gag>Aag p.E50K BBX_ENST00000325805.8_Missense_Mutation_p.E50K|BBX_ENST00000416476.2_Missense_Mutation_p.E50K|BBX_ENST00000406780.1_Missense_Mutation_p.E50K|BBX_ENST00000402543.1_Missense_Mutation_p.E50K NM_001142568.1|NM_020235.5 NP_001136040.1|NP_064620.2 Q8WY36 BBX_HUMAN bobby sox homolog (Drosophila) 50 Poly-Glu. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2) 49 OV - Ovarian serous cystadenocarcinoma(3;0.112) agacgaagaggaggaTATTGA 0.348000 6 33 0 0 0.021553 0 0 MUC16 94025 broad.mit.edu 37 19 9082462 9082462 + Missense_Mutation SNP G G A TCGA-EM-A1CU-01A-11D-A13W-08 TCGA-EM-A1CU-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af6e9bc-7128-4786-9192-2d369de54ae3 b186202a-9853-4a96-8780-e8eb6f28981b g.chr19:9082462G>A ENST00000397910.4 - 1 9556 c.9353C>T c.(9352-9354)tCt>tTt p.S3118F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 3119 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGGGGTCTCAGATGGTGTGAA 0.483000 5 258 0 0 0.014758 0 0 FAM179A 165186 broad.mit.edu 37 2 29226385 29226385 + Missense_Mutation SNP T T A TCGA-EM-A1CU-01A-11D-A13W-08 TCGA-EM-A1CU-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af6e9bc-7128-4786-9192-2d369de54ae3 b186202a-9853-4a96-8780-e8eb6f28981b g.chr2:29226385T>A ENST00000379558.4 + 6 1018 c.667T>A c.(667-669)Tgc>Agc p.C223S FAM179A_ENST00000403861.2_Missense_Mutation_p.C223S NM_199280.2 NP_954974.2 Q6ZUX3 F179A_HUMAN family with sequence similarity 179, member A 223 binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 ATACCTGCACTGCAATGATGA 0.622000 4 4 0 0 0.009096 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664606 22664606 + RNA SNP A A G TCGA-EM-A1CU-01A-11D-A13W-08 TCGA-EM-A1CU-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af6e9bc-7128-4786-9192-2d369de54ae3 b186202a-9853-4a96-8780-e8eb6f28981b g.chr22:22664606A>G ENST00000426066.1 + 0 787 NR_027293.1 GTCTTCATGCAAACTTGGTAT 0.398000 3 50 0 0 0.115264 0 0 HSPA8 3312 broad.mit.edu 37 11 122931873 122931873 + Missense_Mutation SNP C C T TCGA-EM-A1CU-01A-11D-A13W-08 TCGA-EM-A1CU-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af6e9bc-7128-4786-9192-2d369de54ae3 b186202a-9853-4a96-8780-e8eb6f28981b g.chr11:122931873C>T ENST00000534624.1 - 2 436 c.160G>A c.(160-162)Gcc>Acc p.A54T HSPA8_ENST00000526110.1_Missense_Mutation_p.A54T|HSPA8_ENST00000227378.3_Missense_Mutation_p.A54T|HSPA8_ENST00000532636.1_Missense_Mutation_p.A54T|HSPA8_ENST00000453788.2_Missense_Mutation_p.A54T|HSPA8_ENST00000533540.1_Missense_Mutation_p.A54T NM_006597.4 NP_006588.1 P11142 HSP7C_HUMAN heat shock 70kDa protein 8 54 cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex ATP binding|ATPase activity, coupled|protein binding breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1) 36 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) TTCTTTGCGGCATCACCGATC 0.438000 9 64 0 0 0.047766 0 0 ABCC5 10057 broad.mit.edu 37 3 183655701 183655701 + Missense_Mutation SNP C C A TCGA-EM-A1CU-01A-11D-A13W-08 TCGA-EM-A1CU-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af6e9bc-7128-4786-9192-2d369de54ae3 b186202a-9853-4a96-8780-e8eb6f28981b g.chr3:183655701C>A ENST00000334444.6 - 26 4082 c.3842G>T c.(3841-3843)aGt>aTt p.S1281I ABCC5_ENST00000265586.6_Missense_Mutation_p.S1238I NM_005688.2 NP_005679.2 O15440 MRP5_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 5 1281 ABC transporter 2. integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_cancers(143;1.85e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) GACAGTGCCACTGAACAGCAC 0.552000 9 49 0.000274275 0.000324799 0.047766 1 0 IFT46 56912 broad.mit.edu 37 11 118422948 118422948 + Missense_Mutation SNP C C T TCGA-EM-A1CU-01A-11D-A13W-08 TCGA-EM-A1CU-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af6e9bc-7128-4786-9192-2d369de54ae3 b186202a-9853-4a96-8780-e8eb6f28981b g.chr11:118422948C>T ENST00000264020.2 - 9 1116 c.739G>A c.(739-741)Gcg>Acg p.A247T IFT46_ENST00000530872.1_Missense_Mutation_p.A247T|IFT46_ENST00000264021.3_Missense_Mutation_p.A196T NM_020153.3 NP_064538.3 Q9NQC8 IFT46_HUMAN intraflagellar transport 46 homolog (Chlamydomonas) 196 flagellum assembly|intraflagellar transport|protein stabilization microtubule basal body|microtubule-based flagellum|nucleus protein C-terminus binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4) 9 TGCACAGTCGCAGGGGGCTTA 0.443000 5 154 0 0 0.014758 0 0 UGT1A1 0 broad.mit.edu 37 2 234669699 234669699 + Missense_Mutation SNP T T C TCGA-EM-A1CU-01A-11D-A13W-08 TCGA-EM-A1CU-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af6e9bc-7128-4786-9192-2d369de54ae3 b186202a-9853-4a96-8780-e8eb6f28981b g.chr2:234669699T>C ENST00000360418.3 + 1 766 c.766T>C c.(766-768)Ttt>Ctt p.F256L UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A3_ENST00000482026.1_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A1_ENST00000305208.5_Missense_Mutation_p.F256L P22309 UD11_HUMAN 256 bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process endoplasmic reticulum membrane|microsome enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2) 30 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054) Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197) TGTCTGGCTGTTTAGAAGTGA 0.483000 5 184 0 0 0.014758 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EM-A1CU-01A-11D-A13W-08 TCGA-EM-A1CU-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af6e9bc-7128-4786-9192-2d369de54ae3 b186202a-9853-4a96-8780-e8eb6f28981b g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). 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.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(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) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 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 34 55 0 0 0.069456 0 0 PCLO 27445 broad.mit.edu 37 7 82545550 82545550 + Nonsense_Mutation SNP G G A TCGA-EM-A1CU-01A-11D-A13W-08 TCGA-EM-A1CU-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af6e9bc-7128-4786-9192-2d369de54ae3 b186202a-9853-4a96-8780-e8eb6f28981b g.chr7:82545550G>A ENST00000423517.2 - 7 12089 c.11752C>T c.(11752-11754)Caa>Taa p.Q3918* PCLO_ENST00000437081.1_Nonsense_Mutation_p.Q638*|PCLO_ENST00000333891.8_Nonsense_Mutation_p.Q3918* NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 3849 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GGTGAAACTTGCTGATGGTAC 0.458000 7 433 0 0 0.029380 0 0 RPL32P3 0 broad.mit.edu 37 3 129116038 129116038 + RNA SNP C C T TCGA-EM-A1CU-01A-11D-A13W-08 TCGA-EM-A1CU-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af6e9bc-7128-4786-9192-2d369de54ae3 b186202a-9853-4a96-8780-e8eb6f28981b g.chr3:129116038C>T ENST00000514355.1 - 0 412 lung(1) 1 GAGGCTTTCCCGCCCAGGGAC 0.567000 6 161 0 0 0.021553 0 0 AC006293.3 0 broad.mit.edu 37 19 55221926 55221926 + RNA SNP G G A rs146908906 by1000genomes TCGA-EM-A1CU-01A-11D-A13W-08 TCGA-EM-A1CU-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af6e9bc-7128-4786-9192-2d369de54ae3 b186202a-9853-4a96-8780-e8eb6f28981b g.chr19:55221926G>A ENST00000413439.1 + 0 1453 CGGTGCAGCCGGGCCCCACGG 0.642000 5 42 0 0 0.029380 0 0 AC018890.6 0 broad.mit.edu 37 2 175585079 175585079 + RNA DEL A A - TCGA-EM-A1CU-01A-11D-A13W-08 TCGA-EM-A1CU-10A-02D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af6e9bc-7128-4786-9192-2d369de54ae3 7ba8bd1d-42f1-4dd3-952c-0caebd89dc43 g.chr2:175585079delA ENST00000442996.1 + 0 217 TTTCATTCTCAAAAAAAAAAA 0.368 OREG0015078 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 6 --- --- --- --- VAV2 7410 broad.mit.edu 37 9 136635556 136635556 + Frame_Shift_Del DEL T T - TCGA-EM-A1CU-01A-11D-A13W-08 TCGA-EM-A1CU-10A-02D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af6e9bc-7128-4786-9192-2d369de54ae3 7ba8bd1d-42f1-4dd3-952c-0caebd89dc43 g.chr9:136635556delT ENST00000371851.1 - 25 2586 c.2261delA c.(2260-2262)agfs p.K754fs VAV2_ENST00000406606.3_Frame_Shift_Del_p.K754fs|VAV2_ENST00000371850.3_Frame_Shift_Del_p.K764fs P52735 VAV2_HUMAN vav 2 guanine nucleotide exchange factor 764 SH2. angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol metal ion binding|Rho guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1) 35 OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06) GTAGGGGTACTTGAGTGTGGT 0.637 14 85 --- --- --- --- RP11-1166P10.8 0 broad.mit.edu 37 16 32126700 32126726 + RNA DEL AATGTGAACATACAAAAAACAAATCAG AATGTGAACATACAAAAAACAAATCAG - TCGA-EM-A1CU-01A-11D-A13W-08 TCGA-EM-A1CU-10A-02D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af6e9bc-7128-4786-9192-2d369de54ae3 7ba8bd1d-42f1-4dd3-952c-0caebd89dc43 g.chr16:32126700_32126726delAATGTGAACATACAAAAAACAAATCAG ENST00000564145.1 - 0 456 ATGCCTGCCAAATGTGAACATACAAAAAACAAATCAGAATGTGCCAT 0.352 5 6 --- --- --- --- DYNC1LI2 1783 broad.mit.edu 37 16 66757703 66757703 + Frame_Shift_Del DEL A A - TCGA-EM-A1CU-01A-11D-A13W-08 TCGA-EM-A1CU-10A-02D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af6e9bc-7128-4786-9192-2d369de54ae3 7ba8bd1d-42f1-4dd3-952c-0caebd89dc43 g.chr16:66757703delA ENST00000258198.2 - 13 1607 c.1401delT c.(1399-1401)aafs p.N467fs DYNC1LI2_ENST00000443351.2_Frame_Shift_Del_p.N390fs|RP11-63M22.2_ENST00000569274.1_RNA|DYNC1LI2_ENST00000379482.2_Intron NM_006141.2 NP_006132.1 O43237 DC1L2_HUMAN dynein, cytoplasmic 1, light intermediate chain 2 467 transport centrosome|cytoplasmic dynein complex|microtubule ATP binding|motor activity central_nervous_system(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(4)|stomach(1) 15 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212) CTTCCTGAACATTTGACAACA 0.333 10 75 --- --- --- --- FLT3LG 0 broad.mit.edu 37 19 49982166 49982166 + Splice_Site DEL C C - TCGA-EM-A1CU-01A-11D-A13W-08 TCGA-EM-A1CU-10A-02D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af6e9bc-7128-4786-9192-2d369de54ae3 7ba8bd1d-42f1-4dd3-952c-0caebd89dc43 g.chr19:49982166delC ENST00000595510.1 + 5 398 c.96_splice c.e5-1 p.P35_splice FLT3LG_ENST00000595815.1_3'UTR|FLT3LG_ENST00000597551.1_Splice_Site_p.P117_splice|FLT3LG_ENST00000594009.1_Splice_Site_p.P117_splice|FLT3LG_ENST00000204637.2_Splice_Site_p.P35_splice|FLT3LG_ENST00000600429.1_Splice_Site_p.P117_splice|FLT3LG_ENST00000596435.1_Intron|FLT3LG_ENST00000344019.3_Splice_Site_p.P117_splice|CTD-3148I10.9_ENST00000599536.1_Intron P49771 FLT3L_HUMAN fms-related tyrosine kinase 3 ligand 117 positive regulation of cell proliferation|signal transduction extracellular space|integral to membrane|plasma membrane|soluble fraction cytokine activity p.S118fs*24(1) large_intestine(2)|lung(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 10 all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246) CTGCTCCCAGCCCCCCCCCAG 0.687 2 4 --- --- --- --- SCARNA15 0 broad.mit.edu 37 20 41933319 41933319 + RNA DEL A A - rs79619980 TCGA-EM-A1CU-01A-11D-A13W-08 TCGA-EM-A1CU-10A-02D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af6e9bc-7128-4786-9192-2d369de54ae3 7ba8bd1d-42f1-4dd3-952c-0caebd89dc43 g.chr20:41933319delA ENST00000516384.1 + 0 125 TATCaatagcaaaaaaaaaaa 0.318 3 6 --- --- --- --- RP5-896L10.1 0 broad.mit.edu 37 1 99474094 99474094 + RNA DEL A A - rs57656522 TCGA-EM-A1CU-01A-11D-A13W-08 TCGA-EM-A1CU-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af6e9bc-7128-4786-9192-2d369de54ae3 b186202a-9853-4a96-8780-e8eb6f28981b g.chr1:99474094delA ENST00000425113.1 + 0 370 NR_033940.1 AACAGCAACTAAAAAAAAAAA 0.353 3 3 --- --- --- --- VAV2 7410 broad.mit.edu 37 9 136635556 136635556 + Frame_Shift_Del DEL T T - TCGA-EM-A1CU-01A-11D-A13W-08 TCGA-EM-A1CU-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af6e9bc-7128-4786-9192-2d369de54ae3 b186202a-9853-4a96-8780-e8eb6f28981b g.chr9:136635556delT ENST00000371851.1 - 25 2586 c.2261delA c.(2260-2262)agfs p.K754fs VAV2_ENST00000406606.3_Frame_Shift_Del_p.K754fs|VAV2_ENST00000371850.3_Frame_Shift_Del_p.K764fs P52735 VAV2_HUMAN vav 2 guanine nucleotide exchange factor 764 SH2. angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol metal ion binding|Rho guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1) 35 OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06) GTAGGGGTACTTGAGTGTGGT 0.637 14 85 --- --- --- --- DYNC1LI2 1783 broad.mit.edu 37 16 66757703 66757703 + Frame_Shift_Del DEL A A - TCGA-EM-A1CU-01A-11D-A13W-08 TCGA-EM-A1CU-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af6e9bc-7128-4786-9192-2d369de54ae3 b186202a-9853-4a96-8780-e8eb6f28981b g.chr16:66757703delA ENST00000258198.2 - 13 1607 c.1401delT c.(1399-1401)aafs p.N467fs DYNC1LI2_ENST00000379482.2_Intron|DYNC1LI2_ENST00000443351.2_Frame_Shift_Del_p.N390fs|RP11-63M22.2_ENST00000569274.1_RNA NM_006141.2 NP_006132.1 O43237 DC1L2_HUMAN dynein, cytoplasmic 1, light intermediate chain 2 467 transport centrosome|cytoplasmic dynein complex|microtubule ATP binding|motor activity central_nervous_system(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(4)|stomach(1) 15 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212) CTTCCTGAACATTTGACAACA 0.333 10 75 --- --- --- --- SCARNA15 0 broad.mit.edu 37 20 41933319 41933319 + RNA DEL A A - rs79619980 TCGA-EM-A1CU-01A-11D-A13W-08 TCGA-EM-A1CU-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3af6e9bc-7128-4786-9192-2d369de54ae3 b186202a-9853-4a96-8780-e8eb6f28981b g.chr20:41933319delA ENST00000516384.1 + 0 125 TATCaatagcaaaaaaaaaaa 0.318 3 6 --- --- --- ---