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 TRIM49C 642612 broad.mit.edu 37 11 89774252 89774252 + Missense_Mutation SNP G G A rs145791878 by1000genomes TCGA-WB-A818-01A-11D-A35I-08 TCGA-WB-A818-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7355d186-edf1-45b3-8bcb-e40b816c81a3 2855592e-7b25-451c-a8a0-08cc0099642c g.chr11:89774252G>A ENST00000448984.1 + 8 1222 c.893G>A c.(892-894)aGt>aAt p.S298N TRIM49C_ENST00000432771.1_Intron NM_001195234.1 NP_001182163.1 P0CI26 T49L2_HUMAN tripartite motif containing 49C 298 B30.2/SPRY. intracellular zinc ion binding p.S298N(4) endometrium(3)|kidney(1)|lung(4) 8 GAAGCCAACAGTGATATCTTT 0.323000 3 32 0 0 1 0 0 AMZ2P1 201283 broad.mit.edu 37 17 62968690 62968690 + RNA SNP A A G rs138671696 by1000genomes TCGA-WB-A818-01A-11D-A35I-08 TCGA-WB-A818-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7355d186-edf1-45b3-8bcb-e40b816c81a3 2855592e-7b25-451c-a8a0-08cc0099642c g.chr17:62968690A>G ENST00000430983.1 - 0 1554 NR_026903.1 AAAATTCCACAAGTCTCTTGG 0.373000 6 73 0 0 1 0 0 BCRP7 100133163 broad.mit.edu 37 22 18844888 18844888 + RNA SNP A A G TCGA-WB-A818-01A-11D-A35I-08 TCGA-WB-A818-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7355d186-edf1-45b3-8bcb-e40b816c81a3 2855592e-7b25-451c-a8a0-08cc0099642c g.chr22:18844888A>G ENST00000412938.1 + 0 3138 GCTCACGGAAATACAGCTTCA 0.587000 4 47 0 0 1 0 0 PPP6C 5537 broad.mit.edu 37 9 127915922 127915922 + Missense_Mutation SNP G G A TCGA-WB-A818-01A-11D-A35I-08 TCGA-WB-A818-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7355d186-edf1-45b3-8bcb-e40b816c81a3 2855592e-7b25-451c-a8a0-08cc0099642c g.chr9:127915922G>A ENST00000451402.1 - 7 890 c.670C>T c.(670-672)Cat>Tat p.H224Y PPP6C_ENST00000415905.1_Missense_Mutation_p.H165Y|PPP6C_ENST00000373546.3_Missense_Mutation_p.H40Y|PPP6C_ENST00000373547.4_Missense_Mutation_p.H187Y NM_001123355.1 NP_001116827.1 O00743 PPP6_HUMAN protein phosphatase 6, catalytic subunit 187 G1/S transition of mitotic cell cycle|protein dephosphorylation cytosol metal ion binding|protein binding|protein serine/threonine phosphatase activity NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3) 14 GCTCCTTTATGAGGAATTTCC 0.438000 4 48 0 0 1 0 0 USP9X 8239 broad.mit.edu 37 X 40990708 40990708 + Splice_Site SNP A A G TCGA-WB-A818-01A-11D-A35I-08 TCGA-WB-A818-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7355d186-edf1-45b3-8bcb-e40b816c81a3 2855592e-7b25-451c-a8a0-08cc0099642c g.chrX:40990708A>G ENST00000324545.7 + 4 875 c.e4-1 USP9X_ENST00000378308.2_Splice_Site NM_001039590.2|NM_001039591.2 NP_001034679.2|NP_001034680.2 Q93008 USP9X_HUMAN ubiquitin specific peptidase 9, X-linked BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 TAAAACTTTTAGGCCTCGATG 0.323000 3 45 0 0 1 0 0 TRIM17 51127 broad.mit.edu 37 1 228596776 228596776 + Missense_Mutation SNP G G C TCGA-WB-A818-01A-11D-A35I-08 TCGA-WB-A818-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7355d186-edf1-45b3-8bcb-e40b816c81a3 2855592e-7b25-451c-a8a0-08cc0099642c g.chr1:228596776G>C ENST00000456946.2 - 6 1355 c.980C>G c.(979-981)tCt>tGt p.S327C RP11-245P10.4_ENST00000436779.1_RNA|TRIM17_ENST00000366698.2_Intron|TRIM17_ENST00000366697.2_Intron|TRIM17_ENST00000295033.3_Intron NM_001134855.1 NP_001128327.1 Q9Y577 TRI17_HUMAN tripartite motif containing 17 0 B30.2/SPRY. protein autoubiquitination intracellular protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1) 10 Prostate(94;0.0724) TGCACTTGTAGAACCCCCCCC 0.572000 9 22 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179455982 179455982 + Missense_Mutation SNP G G T TCGA-WB-A818-01A-11D-A35I-08 TCGA-WB-A818-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7355d186-edf1-45b3-8bcb-e40b816c81a3 2855592e-7b25-451c-a8a0-08cc0099642c g.chr2:179455982G>T ENST00000589042.1 - 304 60694 c.60470C>A c.(60469-60471)gCc>gAc p.A20157D TTN_ENST00000591111.1_Missense_Mutation_p.A18516D|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A11217D|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A11092D|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A17589D|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A11284D|TTN-AS1_ENST00000590807.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 18516 Fibronectin type-III 46. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTTGCTACCGGCTGCATTGGA 0.423000 4 163 1 1 1 1 0 DMKN 93099 broad.mit.edu 37 19 36004008 36004008 + Missense_Mutation SNP C C T TCGA-WB-A818-01A-11D-A35I-08 TCGA-WB-A818-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7355d186-edf1-45b3-8bcb-e40b816c81a3 2855592e-7b25-451c-a8a0-08cc0099642c g.chr19:36004008C>T ENST00000339686.3 - 1 546 c.370G>A c.(370-372)Gga>Aga p.G124R DMKN_ENST00000418261.1_Missense_Mutation_p.G124R|DMKN_ENST00000429837.1_Missense_Mutation_p.G124R|DMKN_ENST00000447113.2_Missense_Mutation_p.G124R|DMKN_ENST00000451297.2_Missense_Mutation_p.G124R|DMKN_ENST00000424570.2_Missense_Mutation_p.G124R|DMKN_ENST00000440396.1_Missense_Mutation_p.G124R|DMKN_ENST00000419602.1_Missense_Mutation_p.G124R NM_033317.4 NP_201574.3 Q6E0U4 DMKN_HUMAN dermokine 124 Gly-rich. extracellular region NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2) 27 all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) GCATCTGCTCCGTGTCGAATG 0.617000 8 9 0 0 1 0 0 SORBS1 10580 broad.mit.edu 37 10 97131803 97131803 + Missense_Mutation SNP G G A TCGA-WB-A818-01A-11D-A35I-08 TCGA-WB-A818-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7355d186-edf1-45b3-8bcb-e40b816c81a3 2855592e-7b25-451c-a8a0-08cc0099642c g.chr10:97131803G>A ENST00000371247.2 - 20 1930 c.1741C>T c.(1741-1743)Ccc>Tcc p.P581S SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000393949.1_Missense_Mutation_p.P551S|SORBS1_ENST00000354106.3_Missense_Mutation_p.P551S|SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000371246.2_Missense_Mutation_p.P603S|SORBS1_ENST00000277982.5_Missense_Mutation_p.P603S|SORBS1_ENST00000371227.4_Missense_Mutation_p.P535S|SORBS1_ENST00000371245.3_Missense_Mutation_p.P466S|SORBS1_ENST00000474353.2_Intron|SORBS1_ENST00000361941.3_Missense_Mutation_p.P581S|SORBS1_ENST00000353505.5_Missense_Mutation_p.P466S|SORBS1_ENST00000347291.4_Intron|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000371239.1_Intron Q9BX66 SRBS1_HUMAN sorbin and SH3 domain containing 1 581 focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens actin binding|insulin receptor binding|SH3/SH2 adaptor activity NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 42 Colorectal(252;0.0429) Epithelial(162;1.7e-06)|all cancers(201;6.52e-05) ATCTTTTTGGGAGGCTGACGG 0.478000 8 13 0 0 1 0 0 MYH8 4626 broad.mit.edu 37 17 10305000 10305000 + Missense_Mutation SNP C C T rs142137577 TCGA-WB-A818-01A-11D-A35I-08 TCGA-WB-A818-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7355d186-edf1-45b3-8bcb-e40b816c81a3 2855592e-7b25-451c-a8a0-08cc0099642c g.chr17:10305000C>T ENST00000403437.2 - 23 2885 c.2791G>A c.(2791-2793)Gag>Aag p.E931K CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 931 muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 TCTTCCTCCTCCTCAGCTCTT 0.438000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 7 90 0 0 1 0 0 SYNE2 23224 broad.mit.edu 37 14 64685207 64685207 + Missense_Mutation SNP C C T TCGA-WB-A818-01A-11D-A35I-08 TCGA-WB-A818-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7355d186-edf1-45b3-8bcb-e40b816c81a3 2855592e-7b25-451c-a8a0-08cc0099642c g.chr14:64685207C>T ENST00000357395.3 + 109 19864 c.8720C>T c.(8719-8721)gCc>gTc p.A2907V SYNE2_ENST00000554584.1_Intron|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.A2907V|SYNE2_ENST00000358025.3_Missense_Mutation_p.A6545V|SYNE2_ENST00000555002.1_Missense_Mutation_p.A3179V|SYNE2_ENST00000344113.4_Missense_Mutation_p.A6522V|SYNE2_ENST00000555022.1_Missense_Mutation_p.A400V|SYNE2_ENST00000554805.1_Missense_Mutation_p.A305V|SYNE2_ENST00000458046.2_Missense_Mutation_p.A179V|SYNE2_ENST00000441438.2_Missense_Mutation_p.A53V Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 6522 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) GGGGGACTGGCCGGTATCACA 0.527000 3 11 0 0 1 0 0 MEFV 4210 broad.mit.edu 37 16 3306389 3306389 + Missense_Mutation SNP C C T TCGA-WB-A818-01A-11D-A35I-08 TCGA-WB-A818-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7355d186-edf1-45b3-8bcb-e40b816c81a3 2855592e-7b25-451c-a8a0-08cc0099642c g.chr16:3306389C>T ENST00000219596.1 - 1 238 c.199G>A c.(199-201)Gtg>Atg p.V67M MEFV_ENST00000541159.1_Missense_Mutation_p.V67M|MEFV_ENST00000536379.1_Missense_Mutation_p.V67M|MEFV_ENST00000339854.4_Missense_Mutation_p.V67M NM_000243.2 NP_000234.1 O15553 MEFV_HUMAN Mediterranean fever 67 DAPIN. inflammatory response cytoplasm|microtubule|microtubule associated complex|nucleus actin binding|zinc ion binding NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6) 50 Colchicine(DB01394) GTGAGCTGCACGGCGTACTCT 0.657000 15 39 0 0 1 0 0 ANKRD30BP2 149992 broad.mit.edu 37 21 14414902 14414902 + RNA SNP G G A rs2821609 by1000genomes TCGA-WB-A818-01A-11D-A35I-08 TCGA-WB-A818-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7355d186-edf1-45b3-8bcb-e40b816c81a3 2855592e-7b25-451c-a8a0-08cc0099642c g.chr21:14414902G>A ENST00000507941.1 + 0 95 CCAGCTTGACGTCCTTGATGG 0.443000 4 29 0 0 1 0 0 CRIM1 51232 broad.mit.edu 37 2 36583501 36583503 + In_Frame_Del DEL GCT GCT - TCGA-WB-A818-01A-11D-A35I-08 TCGA-WB-A818-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7355d186-edf1-45b3-8bcb-e40b816c81a3 2855592e-7b25-451c-a8a0-08cc0099642c g.chr2:36583501_36583503delGCT ENST00000280527.2 + 1 433_435 c.66_68delGCT c.(64-69)ggg>gg p.GL22del NM_016441.2 NP_057525.1 Q9NZV1 CRIM1_HUMAN cysteine rich transmembrane BMP regulator 1 (chordin-like) 22 nervous system development|regulation of cell growth extracellular region|integral to membrane|plasma membrane insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 45 all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154) CGCTGCTGGGGCTGCTGCTGCTG 0.734 2 4 --- --- --- --- LINC00971 440970 broad.mit.edu 37 3 84741480 84741480 + RNA DEL A A - rs140144338 TCGA-WB-A818-01A-11D-A35I-08 TCGA-WB-A818-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7355d186-edf1-45b3-8bcb-e40b816c81a3 2855592e-7b25-451c-a8a0-08cc0099642c g.chr3:84741480delA ENST00000484892.1 - 0 2354 NR_033860.1 CCTGTCCCAGAAAAAAAAAAA 0.388 5 1 --- --- --- --- CTC-338M12.9 0 broad.mit.edu 37 5 180708854 180708854 + RNA DEL A A - rs60396213 TCGA-WB-A818-01A-11D-A35I-08 TCGA-WB-A818-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7355d186-edf1-45b3-8bcb-e40b816c81a3 2855592e-7b25-451c-a8a0-08cc0099642c g.chr5:180708854delA ENST00000412295.2 + 0 238 GAGCGGTAGGAGGGGGGCTGG 0.692 2 4 --- --- --- --- CCT6P1 643253 broad.mit.edu 37 7 65222951 65222951 + RNA DEL T T - TCGA-WB-A818-01A-11D-A35I-08 TCGA-WB-A818-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7355d186-edf1-45b3-8bcb-e40b816c81a3 2855592e-7b25-451c-a8a0-08cc0099642c g.chr7:65222951delT ENST00000442266.1 + 0 561 TTTCTGTAACTTTTTTTTTTT 0.323 3 3 --- --- --- --- NF1 4763 broad.mit.edu 37 17 29667527 29667528 + Frame_Shift_Del DEL CG CG - TCGA-WB-A818-01A-11D-A35I-08 TCGA-WB-A818-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7355d186-edf1-45b3-8bcb-e40b816c81a3 2855592e-7b25-451c-a8a0-08cc0099642c g.chr17:29667527_29667528delCG ENST00000358273.4 + 47 7309_7310 c.6926_6927delCG c.(6925-6927)tfs p.S2309fs NF1_ENST00000444181.2_Frame_Shift_Del_p.S102fs|NF1_ENST00000417592.2_Frame_Shift_Del_p.S22fs|NF1_ENST00000356175.3_Frame_Shift_Del_p.S2288fs NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 2309 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(3)|p.S2309S(1)|p.P2310fs*11(1) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) TGCCAGGACTCGCCTCTGCACA 0.441 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 13 16 --- --- --- --- DCAF8L2 347442 broad.mit.edu 37 X 27765849 27765849 + Frame_Shift_Del DEL C C - TCGA-WB-A818-01A-11D-A35I-08 TCGA-WB-A818-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7355d186-edf1-45b3-8bcb-e40b816c81a3 2855592e-7b25-451c-a8a0-08cc0099642c g.chrX:27765849delC ENST00000451261.2 + 5 1236 c.837delC c.(835-837)ttfs p.F279fs NM_001136533.1 NP_001130005.1 DDB1 and CUL4 associated factor 8-like 2 central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3) 24 AGGCCAAGTTCCTTCCTAACT 0.478 2 4 --- --- --- --- NUDT11 55190 broad.mit.edu 37 X 51239296 51239309 + Translation_Start_Site DEL TCCTCGAGGCAGCC TCCTCGAGGCAGCC - rs78182391 TCGA-WB-A818-01A-11D-A35I-08 TCGA-WB-A818-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7355d186-edf1-45b3-8bcb-e40b816c81a3 2855592e-7b25-451c-a8a0-08cc0099642c g.chrX:51239296_51239309delTCCTCGAGGCAGCC ENST00000375992.3 - 0 139_152 NM_018159.3 NP_060629.2 Q96G61 NUD11_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 11 cytoplasm diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding p.?(5) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2) 9 Ovarian(276;0.236) TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC 0.692 HNSCC(48;0.14) 4 3 --- --- --- ---