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 MST1L 11223 broad.mit.edu 37 1 17083685 17083685 + RNA SNP C C A rs3197973 by1000genomes TCGA-QR-A6GX-01A-11D-A35D-08 TCGA-QR-A6GX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7398e690-eed2-486c-8f3e-728337467264 8514d7ec-0a74-4299-af21-f2d46100b2b5 g.chr1:17083685C>A ENST00000455405.2 - 0 903 ACTGTACTTACAAGTTTTGTC 0.403000 4 12 0.27861 0.27861 1 1 0 FAM194A 131831 broad.mit.edu 37 3 150377880 150377880 + Silent SNP C C T TCGA-QR-A6GX-01A-11D-A35D-08 TCGA-QR-A6GX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7398e690-eed2-486c-8f3e-728337467264 8514d7ec-0a74-4299-af21-f2d46100b2b5 g.chr3:150377880C>T ENST00000295910.6 - 14 1843 c.1791G>A c.(1789-1791)ctG>ctA p.L597L FAM194A_ENST00000491361.1_Silent_p.L451L NM_152394.3 NP_689607.2 Q7L0X2 F194A_HUMAN family with sequence similarity 194, member A 597 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 TTAAACTGGCCAGCAGAAGAA 0.438000 22 66 0 0 1 0 0 AFAP1L1 134265 broad.mit.edu 37 5 148679174 148679174 + Missense_Mutation SNP T T C TCGA-QR-A6GX-01A-11D-A35D-08 TCGA-QR-A6GX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7398e690-eed2-486c-8f3e-728337467264 8514d7ec-0a74-4299-af21-f2d46100b2b5 g.chr5:148679174T>C ENST00000296721.4 + 2 217 c.119T>C c.(118-120)aTc>aCc p.I40T AFAP1L1_ENST00000515000.1_Missense_Mutation_p.I40T|AFAP1L1_ENST00000522492.1_3'UTR NM_001146337.1|NM_152406.2 NP_001139809.1|NP_689619.1 Q8TED9 AF1L1_HUMAN actin filament associated protein 1-like 1 40 protein binding breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2) 26 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTGGCCTCCATCCTGCAGAGC 0.602000 6 42 0 0 1 0 0 GAS2L2 246176 broad.mit.edu 37 17 34072885 34072885 + Missense_Mutation SNP T T C TCGA-QR-A6GX-01A-11D-A35D-08 TCGA-QR-A6GX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7398e690-eed2-486c-8f3e-728337467264 8514d7ec-0a74-4299-af21-f2d46100b2b5 g.chr17:34072885T>C ENST00000254466.6 - 6 1658 c.1631A>G c.(1630-1632)gAc>gGc p.D544G GAS2L2_ENST00000587565.1_Missense_Mutation_p.D528G NM_139285.3 NP_644814.1 Q8NHY3 GA2L2_HUMAN growth arrest-specific 2 like 2 544 cell cycle arrest cytoplasm|cytoskeleton central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) CCCAGCCAGGTCCACAGTGAC 0.617000 3 27 0 0 1 0 0 GMPR 2766 broad.mit.edu 37 6 16274725 16274725 + Missense_Mutation SNP C C T TCGA-QR-A6GX-01A-11D-A35D-08 TCGA-QR-A6GX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7398e690-eed2-486c-8f3e-728337467264 8514d7ec-0a74-4299-af21-f2d46100b2b5 g.chr6:16274725C>T ENST00000259727.4 + 5 659 c.545C>T c.(544-546)cCa>cTa p.P182L NM_006877.3 NP_006868.3 P36959 GMPR1_HUMAN guanosine monophosphate reductase 182 nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage|response to cold cytosol GMP reductase activity|metal ion binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1) 20 Breast(50;0.0427)|Ovarian(93;0.103) all_hematologic(90;0.0895) GGAGTTGGACCAGGTAAGACT 0.512000 7 39 0 0 1 0 0 SAMD9L 219285 broad.mit.edu 37 7 92763379 92763379 + Missense_Mutation SNP G G A TCGA-QR-A6GX-01A-11D-A35D-08 TCGA-QR-A6GX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7398e690-eed2-486c-8f3e-728337467264 8514d7ec-0a74-4299-af21-f2d46100b2b5 g.chr7:92763379G>A ENST00000318238.4 - 5 3122 c.1906C>T c.(1906-1908)Ccc>Tcc p.P636S SAMD9L_ENST00000437805.1_Missense_Mutation_p.P636S|SAMD9L_ENST00000411955.1_Missense_Mutation_p.P636S NM_152703.2 NP_689916.2 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 636 central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 88 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) CCACGGGCGGGCAAAAACCTT 0.398000 4 121 0 0 1 0 0 ABCB5 340273 broad.mit.edu 37 7 20698192 20698192 + Missense_Mutation SNP G G A TCGA-QR-A6GX-01A-11D-A35D-08 TCGA-QR-A6GX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7398e690-eed2-486c-8f3e-728337467264 8514d7ec-0a74-4299-af21-f2d46100b2b5 g.chr7:20698192G>A ENST00000404938.2 + 14 2252 c.1600G>A c.(1600-1602)Gca>Aca p.A534T ABCB5_ENST00000258738.6_Missense_Mutation_p.A89T|ABCB5_ENST00000443026.2_Missense_Mutation_p.A89T|ABCB5_ENST00000406935.1_Missense_Mutation_p.A89T NM_001163941.1 NP_001157413.1 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 5 89 ABC transmembrane type-1. regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1) 77 ACAGAGGATCGCAATTGCTCG 0.433000 10 34 0 0 1 0 0 BCOR 54880 broad.mit.edu 37 X 39911406 39911406 + Missense_Mutation SNP C C G TCGA-QR-A6GX-01A-11D-A35D-08 TCGA-QR-A6GX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7398e690-eed2-486c-8f3e-728337467264 8514d7ec-0a74-4299-af21-f2d46100b2b5 g.chrX:39911406C>G ENST00000342274.4 - 15 5484 c.5122G>C c.(5122-5124)Gag>Cag p.E1708Q BCOR_ENST00000378455.4_Missense_Mutation_p.E1690Q|BCOR_ENST00000397354.3_Missense_Mutation_p.E1708Q|BCOR_ENST00000378444.4_Missense_Mutation_p.E1742Q|BCOR_ENST00000378463.1_Missense_Mutation_p.E585Q NM_001123383.1 NP_001116855.1 Q6W2J9 BCOR_HUMAN BCL6 corepressor 1742 heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent nucleus heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 126 TGGAGCCACTCTACAGAGGAG 0.493000 """F, N, S, T""" RARA """retinoblastoma, AML, APL(translocation)""" oculo-facio-cardio-dental genetic 3 26 0 0 1 0 0 CROCCP2 84809 broad.mit.edu 37 1 16956575 16956575 + RNA SNP G G A TCGA-QR-A6GX-01A-11D-A35D-08 TCGA-QR-A6GX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7398e690-eed2-486c-8f3e-728337467264 8514d7ec-0a74-4299-af21-f2d46100b2b5 g.chr1:16956575G>A ENST00000412962.1 - 0 294 TCTCGCTGTCGCTAAGCTGCT 0.647000 3 30 0 0 1 0 0 BZRAP1 9256 broad.mit.edu 37 17 56386005 56386005 + Missense_Mutation SNP T T C TCGA-QR-A6GX-01A-11D-A35D-08 TCGA-QR-A6GX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7398e690-eed2-486c-8f3e-728337467264 8514d7ec-0a74-4299-af21-f2d46100b2b5 g.chr17:56386005T>C ENST00000355701.3 - 22 5498 c.4628A>G c.(4627-4629)aAt>aGt p.N1543S BZRAP1_ENST00000343736.4_Missense_Mutation_p.N1543S|BZRAP1_ENST00000268893.6_Missense_Mutation_p.N1483S NM_001261835.1|NM_004758.3 NP_001248764.1|NP_004749.2 O95153 RIMB1_HUMAN benzodiazapine receptor (peripheral) associated protein 1 1543 mitochondrion benzodiazepine receptor binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Medulloblastoma(34;0.127)|all_neural(34;0.237) GGGGCCTGAATTGGCCTTCGG 0.677000 8 14 0 0 1 0 0 MTOR 2475 broad.mit.edu 37 1 11169377 11169377 + Missense_Mutation SNP T T A TCGA-QR-A6GX-01A-11D-A35D-08 TCGA-QR-A6GX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7398e690-eed2-486c-8f3e-728337467264 8514d7ec-0a74-4299-af21-f2d46100b2b5 g.chr1:11169377T>A ENST00000361445.4 - 56 7574 c.7498A>T c.(7498-7500)Att>Ttt p.I2500F MTOR_ENST00000376838.1_Missense_Mutation_p.I705F NM_004958.3 NP_004949.1 P42345 MTOR_HUMAN mechanistic target of rapamycin (serine/threonine kinase) 2500 PI3K/PI4K. cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex ATP binding|phosphoprotein binding|protein serine/threonine kinase activity breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 149 CTGTTAATAATCTGGATAGCT 0.408000 16 52 0 0 1 0 0 ZNF319 57567 broad.mit.edu 37 16 58032116 58032116 + Silent SNP T T A TCGA-QR-A6GX-01A-11D-A35D-08 TCGA-QR-A6GX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7398e690-eed2-486c-8f3e-728337467264 8514d7ec-0a74-4299-af21-f2d46100b2b5 g.chr16:58032116T>A ENST00000299237.2 - 2 676 c.54A>T c.(52-54)ccA>ccT p.P18P NM_020807.1 NP_065858.1 Q9P2F9 ZN319_HUMAN zinc finger protein 319 18 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1) 8 GAGGCTGCGGTGGCTGTGGCT 0.637000 11 44 0 0 1 0 0 SMC4 10051 broad.mit.edu 37 3 160142806 160142806 + Splice_Site SNP A A G TCGA-QR-A6GX-01A-11D-A35D-08 TCGA-QR-A6GX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7398e690-eed2-486c-8f3e-728337467264 8514d7ec-0a74-4299-af21-f2d46100b2b5 g.chr3:160142806A>G ENST00000357388.3 + 16 2928 c.2478_splice c.e16+1 p.Q826_splice RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000360111.2_Splice_Site_p.Q826_splice|SMC4_ENST00000462787.1_Splice_Site_p.Q826_splice|SMC4_ENST00000469762.1_Splice_Site_p.Q801_splice|SMC4_ENST00000344722.5_Splice_Site_p.Q826_splice NM_001002800.1 NP_001002800.1 Q9NTJ3 SMC4_HUMAN structural maintenance of chromosomes 4 826 cell division|mitotic chromosome condensation condensin complex|cytoplasm|nucleus ATP binding|protein heterodimerization activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) GCAAGCATCCAGgtatgtgtg 0.363000 3 16 0 0 1 0 0 SCAF8 22828 broad.mit.edu 37 6 155126575 155126575 + Silent SNP A A C TCGA-QR-A6GX-01A-11D-A35D-08 TCGA-QR-A6GX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7398e690-eed2-486c-8f3e-728337467264 8514d7ec-0a74-4299-af21-f2d46100b2b5 g.chr6:155126575A>C ENST00000367178.3 + 9 1512 c.936A>C c.(934-936)ctA>ctC p.L312L SCAF8_ENST00000367186.4_Silent_p.L378L|SCAF8_ENST00000417268.1_Silent_p.L312L NM_014892.3 NP_055707.3 Q9UPN6 SCAF8_HUMAN SR-related CTD-associated factor 8 312 Gln-rich. mRNA processing|RNA splicing nuclear matrix|spliceosomal complex nucleotide binding|RNA binding|RNA polymerase core enzyme binding breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 46 AGCAAAACCTAGAACATCTCA 0.358000 7 69 0 0 1 0 0 COL5A3 50509 broad.mit.edu 37 19 10089840 10089840 + Missense_Mutation SNP G G A TCGA-QR-A6GX-01A-11D-A35D-08 TCGA-QR-A6GX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7398e690-eed2-486c-8f3e-728337467264 8514d7ec-0a74-4299-af21-f2d46100b2b5 g.chr19:10089840G>A ENST00000264828.3 - 39 2927 c.2842C>T c.(2842-2844)Ctt>Ttt p.L948F NM_015719.3 NP_056534.2 P25940 CO5A3_HUMAN collagen, type V, alpha 3 948 Triple-helical 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) AGGCCAGGAAGACCTTGTTCA 0.567000 8 36 0 0 1 0 0 LLPH 84298 broad.mit.edu 37 12 66517700 66517700 + Missense_Mutation SNP T T C TCGA-QR-A6GX-01A-11D-A35D-08 TCGA-QR-A6GX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7398e690-eed2-486c-8f3e-728337467264 8514d7ec-0a74-4299-af21-f2d46100b2b5 g.chr12:66517700T>C ENST00000266604.2 - 3 380 c.310A>G c.(310-312)Agg>Ggg p.R104G LLPH_ENST00000446587.2_Missense_Mutation_p.R104G|TMBIM4_ENST00000539652.1_3'UTR NM_032338.3 NP_115714.1 Q9BRT6 LLPH_HUMAN LLP homolog, long-term synaptic facilitation (Aplysia) 104 Lys-rich. central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|skin(1) 5 GCCTTCAGCCTTTTTCTTTGC 0.408000 5 135 0 0 1 0 0 DPEP1 1800 broad.mit.edu 37 16 89702399 89702399 + Missense_Mutation SNP G G A TCGA-QR-A6GX-01A-11D-A35D-08 TCGA-QR-A6GX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7398e690-eed2-486c-8f3e-728337467264 8514d7ec-0a74-4299-af21-f2d46100b2b5 g.chr16:89702399G>A ENST00000393092.3 + 3 479 c.188G>A c.(187-189)gGc>gAc p.G63D DPEP1_ENST00000261615.4_Missense_Mutation_p.G63D|DPEP1_ENST00000421184.1_Missense_Mutation_p.G63D NM_004413.3 NP_004404.1 P16444 DPEP1_HUMAN dipeptidase 1 (renal) 63 proteolysis anchored to membrane|apical plasma membrane|microvillus membrane dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1) 14 all_lung(18;0.0054)|all_hematologic(23;0.094) BRCA - Breast invasive adenocarcinoma(80;0.0258) Cilastatin(DB01597) ACCTTGGCCGGCACACACACC 0.637000 3 19 0 0 1 0 0 TENM1 10178 broad.mit.edu 37 X 123526098 123526098 + Missense_Mutation SNP T T G TCGA-QR-A6GX-01A-11D-A35D-08 TCGA-QR-A6GX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7398e690-eed2-486c-8f3e-728337467264 8514d7ec-0a74-4299-af21-f2d46100b2b5 g.chrX:123526098T>G ENST00000422452.2 - 28 5555 c.5492A>C c.(5491-5493)gAc>gCc p.D1831A TENM1_ENST00000371130.3_Missense_Mutation_p.D1824A|STAG2_ENST00000469481.1_Intron NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 CCCAGTCTGGTCATAAAGAAT 0.423000 36 54 0 0 1 0 0 MYOM1 8736 broad.mit.edu 37 18 3188963 3188963 + Missense_Mutation SNP G G A TCGA-QR-A6GX-01A-11D-A35D-08 TCGA-QR-A6GX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7398e690-eed2-486c-8f3e-728337467264 8514d7ec-0a74-4299-af21-f2d46100b2b5 g.chr18:3188963G>A ENST00000356443.4 - 4 887 c.554C>T c.(553-555)aCg>aTg p.T185M MYOM1_ENST00000261606.7_Missense_Mutation_p.T185M|MYOM1_ENST00000400569.3_Missense_Mutation_p.T185M NM_003803.3|NM_019856.1 NP_003794.3|NP_062830.1 P52179 MYOM1_HUMAN myomesin 1 185 6 X 6 AA tandem repeats. 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 CTTGGATGCCGTGGACTGTTT 0.507000 4 73 0 0 1 0 0 HSPG2 3339 broad.mit.edu 37 1 22199255 22199255 + Splice_Site DEL T T - TCGA-QR-A6GX-01A-11D-A35D-08 TCGA-QR-A6GX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7398e690-eed2-486c-8f3e-728337467264 8514d7ec-0a74-4299-af21-f2d46100b2b5 g.chr1:22199255delT ENST00000374695.3 - 32 3968 c.e32-2 NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) CACCTGGGCCTGGGTAGACGG 0.682 2 4 --- --- --- --- FER1L5 90342 broad.mit.edu 37 2 97361186 97361186 + RNA DEL G G - TCGA-QR-A6GX-01A-11D-A35D-08 TCGA-QR-A6GX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7398e690-eed2-486c-8f3e-728337467264 8514d7ec-0a74-4299-af21-f2d46100b2b5 g.chr2:97361186delG ENST00000457909.1 + 0 3185 A0AVI2 FR1L5_HUMAN fer-1-like 5 (C. elegans) integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2) 38 TCTCTGGCCAGGACCCCATTA 0.632 2 4 --- --- --- --- AC073321.4 0 broad.mit.edu 37 2 217475031 217475032 + RNA INS - - AA rs71401156 TCGA-QR-A6GX-01A-11D-A35D-08 TCGA-QR-A6GX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7398e690-eed2-486c-8f3e-728337467264 8514d7ec-0a74-4299-af21-f2d46100b2b5 g.chr2:217475031_217475032insAA ENST00000441803.1 + 0 195 AATTTTATTTCAAAAAAAAAAA 0.376 4 5 --- --- --- --- CDC27 996 broad.mit.edu 37 17 45219612 45219612 + Frame_Shift_Del DEL A A - TCGA-QR-A6GX-01A-11D-A35D-08 TCGA-QR-A6GX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7398e690-eed2-486c-8f3e-728337467264 8514d7ec-0a74-4299-af21-f2d46100b2b5 g.chr17:45219612delA ENST00000066544.3 - 11 1454 c.1361delT c.(1360-1362)cafs p.L454fs CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs|CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs NM_001114091.1|NM_001256.3 NP_001107563.1|NP_001247.3 P30260 CDC27_HUMAN cell division cycle 27 454 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 TGCTTTTTGTAGATTAAAGGC 0.308 9 37 --- --- --- ---