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 ZNF638 27332 broad.mit.edu 37 2 71658501 71658501 + Missense_Mutation SNP C C T TCGA-RY-A83X-01A-11D-A36O-08 TCGA-RY-A83X-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3 519730cf-646f-4305-bb34-d96cf0de58d9 g.chr2:71658501C>T ENST00000409544.1 + 26 6325 c.5695C>T c.(5695-5697)Cgc>Tgc p.R1899C ZNF638_ENST00000409407.1_Missense_Mutation_p.R839C|ZNF638_ENST00000355812.3_3'UTR|ZNF638_ENST00000264447.4_Missense_Mutation_p.R1899C NM_001252612.1 NP_001239541.1 Q14966 ZN638_HUMAN zinc finger protein 638 1899 RNA splicing cytoplasm|nuclear speck double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1) 63 AGAGCGAAAACGCAAGAAGAC 0.353000 40 57 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625961 29625961 + Missense_Mutation SNP C C A TCGA-RY-A83X-01A-11D-A36O-08 TCGA-RY-A83X-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3 519730cf-646f-4305-bb34-d96cf0de58d9 g.chr20:29625961C>A ENST00000278882.3 + 5 585 c.205C>A c.(205-207)Caa>Aaa p.Q69K FRG1B_ENST00000439954.2_Missense_Mutation_p.Q74K|FRG1B_ENST00000358464.4_Missense_Mutation_p.Q69K p.Q69K(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ACCAAGAGAACAATGGGAACC 0.333000 5 116 0.0215528 0.0225552 1 1 0 LRIG3 121227 broad.mit.edu 37 12 59274457 59274457 + Silent SNP G G A TCGA-RY-A83X-01A-11D-A36O-08 TCGA-RY-A83X-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3 519730cf-646f-4305-bb34-d96cf0de58d9 g.chr12:59274457G>A ENST00000320743.3 - 13 1993 c.1707C>T c.(1705-1707)cgC>cgT p.R569R LRIG3_ENST00000379141.4_Silent_p.R509R NM_153377.4 NP_700356.2 Q6UXM1 LRIG3_HUMAN leucine-rich repeats and immunoglobulin-like domains 3 569 Ig-like C2-type 1. integral to membrane LRIG3/ROS1(2) breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 GBM - Glioblastoma multiforme(1;1.17e-18) ATTCCACCTCGCGCAGCCGAA 0.468000 T ROS1 NSCLC 24 51 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628245 29628245 + Missense_Mutation SNP G G A TCGA-RY-A83X-01A-11D-A36O-08 TCGA-RY-A83X-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3 519730cf-646f-4305-bb34-d96cf0de58d9 g.chr20:29628245G>A ENST00000278882.3 + 6 627 c.247G>A c.(247-249)Gcc>Acc p.A83T FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T p.A83T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGCTTTGTTGGCCTCAAATAG 0.353000 5 135 0 0 1 0 0 MBTPS1 8720 broad.mit.edu 37 16 84104317 84104317 + Missense_Mutation SNP G G A rs140684387 TCGA-RY-A83X-01A-11D-A36O-08 TCGA-RY-A83X-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3 519730cf-646f-4305-bb34-d96cf0de58d9 g.chr16:84104317G>A ENST00000343411.3 - 13 2153 c.1658C>T c.(1657-1659)tCg>tTg p.S553L NM_003791.2 NP_003782.1 Q14703 MBTP1_HUMAN membrane-bound transcription factor peptidase, site 1 553 cholesterol metabolic process|proteolysis endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane serine-type endopeptidase activity NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 CCATAAGACCGAGGAGTAGGA 0.512000 4 98 0 0 1 0 0 SVIL 6840 broad.mit.edu 37 10 29822350 29822350 + Missense_Mutation SNP C C G TCGA-RY-A83X-01A-11D-A36O-08 TCGA-RY-A83X-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3 519730cf-646f-4305-bb34-d96cf0de58d9 g.chr10:29822350C>G ENST00000375398.2 - 10 1395 c.946G>C c.(946-948)Gct>Cct p.A316P SVIL_ENST00000355867.4_Missense_Mutation_p.A316P|SVIL_ENST00000375400.3_Intron O95425 SVIL_HUMAN supervillin 316 cytoskeleton organization|skeletal muscle tissue development cell junction|costamere|invadopodium|nucleus|podosome actin filament binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 112 Breast(68;0.103) CTGTTTCGAGCACTTTCCTCT 0.458000 13 35 0 0 1 0 0 RP11-114H24.7 0 broad.mit.edu 37 15 78211548 78211548 + RNA SNP T T C TCGA-RY-A83X-01A-11D-A36O-08 TCGA-RY-A83X-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3 519730cf-646f-4305-bb34-d96cf0de58d9 g.chr15:78211548T>C ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA CCACCTGGGATTGGAGCTTTC 0.562000 4 107 0 0 1 0 0 AGFG2 3268 broad.mit.edu 37 7 100161493 100161493 + Missense_Mutation SNP T T C TCGA-RY-A83X-01A-11D-A36O-08 TCGA-RY-A83X-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3 519730cf-646f-4305-bb34-d96cf0de58d9 g.chr7:100161493T>C ENST00000300176.4 + 10 1330 c.1208T>C c.(1207-1209)tTc>tCc p.F403S AGFG2_ENST00000474713.1_Intron|AGFG2_ENST00000262935.4_3'UTR NM_006076.4 NP_006067.3 O95081 AGFG2_HUMAN ArfGAP with FG repeats 2 403 Pro-rich. regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding p.F403fs*30(1) NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 GGGCCTGGCTTCCCCCAGGCA 0.617000 OREG0018204 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 40 54 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628243 29628243 + Missense_Mutation SNP T T C TCGA-RY-A83X-01A-11D-A36O-08 TCGA-RY-A83X-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3 519730cf-646f-4305-bb34-d96cf0de58d9 g.chr20:29628243T>C ENST00000278882.3 + 6 625 c.245T>C c.(244-246)tTg>tCg p.L82S FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S p.L82S(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGGCTTTGTTGGCCTCAAAT 0.363000 5 135 0 0 1 0 0 MAML3 55534 broad.mit.edu 37 4 140811108 140811108 + Silent SNP C C T TCGA-RY-A83X-01A-11D-A36O-08 TCGA-RY-A83X-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3 519730cf-646f-4305-bb34-d96cf0de58d9 g.chr4:140811108C>T ENST00000509479.2 - 2 2338 c.1482G>A c.(1480-1482)caG>caA p.Q494Q MAML3_ENST00000327122.5_Silent_p.Q338Q|MAML3_ENST00000398940.1_Silent_p.Q33Q NM_018717.4 NP_061187.2 Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 494 Gln-rich. Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) gctgctgctgctgctgctgct 0.537000 4 47 0 0 1 0 0 OR13D1 286365 broad.mit.edu 37 9 107456886 107456886 + Missense_Mutation SNP C C G TCGA-RY-A83X-01A-11D-A36O-08 TCGA-RY-A83X-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3 519730cf-646f-4305-bb34-d96cf0de58d9 g.chr9:107456886C>G ENST00000318763.5 + 1 227 c.184C>G c.(184-186)Ctc>Gtc p.L62V NM_001004484.1 NP_001004484.1 Q8NGV5 O13D1_HUMAN olfactory receptor, family 13, subfamily D, member 1 62 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2) 19 TCTGTTCCTGCTCTGCCTCAT 0.443000 46 69 0 0 1 0 0 FAM9C 171484 broad.mit.edu 37 X 13061059 13061059 + Silent SNP G G A TCGA-RY-A83X-01A-11D-A36O-08 TCGA-RY-A83X-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3 519730cf-646f-4305-bb34-d96cf0de58d9 g.chrX:13061059G>A ENST00000542843.1 - 4 402 c.192C>T c.(190-192)acC>acT p.T64T FAM9C_ENST00000380625.3_Silent_p.T64T|FAM9C_ENST00000333995.3_Silent_p.T64T Q8IZT9 FAM9C_HUMAN family with sequence similarity 9, member C 64 nucleus NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(1) 5 CTAGCTCCTTGGTATCAACCC 0.348000 8 83 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593016 96593016 + Missense_Mutation SNP C C A rs79307257 by1000genomes TCGA-RY-A83X-01A-11D-A36O-08 TCGA-RY-A83X-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3 519730cf-646f-4305-bb34-d96cf0de58d9 g.chr2:96593016C>A ENST00000456556.1 - 28 1969 c.1885G>T c.(1885-1887)Gat>Tat p.D629Y ankyrin repeat domain 36C p.D629Y(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 GAAACAGAATCTTTCTCATCA 0.318000 5 102 0.00198382 0.00212552 1 1 0 IGF2BP3 10643 broad.mit.edu 37 7 23381773 23381773 + Silent SNP G G A TCGA-RY-A83X-01A-11D-A36O-08 TCGA-RY-A83X-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3 519730cf-646f-4305-bb34-d96cf0de58d9 g.chr7:23381773G>A ENST00000258729.3 - 10 1469 c.1113C>T c.(1111-1113)aaC>aaT p.N371N NM_006547.2 NP_006538.2 O00425 IF2B3_HUMAN insulin-like growth factor 2 mRNA binding protein 3 371 anatomical structure morphogenesis|negative regulation of translation|translation cytosol|nucleus mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1) 34 GACCCAAGGCGTTCAGATTTA 0.468000 19 33 0 0 1 0 0 ABCA1 19 broad.mit.edu 37 9 107558678 107558678 + Missense_Mutation SNP C C T TCGA-RY-A83X-01A-11D-A36O-08 TCGA-RY-A83X-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3 519730cf-646f-4305-bb34-d96cf0de58d9 g.chr9:107558678C>T ENST00000374736.3 - 38 5543 c.5149G>A c.(5149-5151)Gtc>Atc p.V1717I NM_005502.3 NP_005493.2 O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A (ABC1), member 1 1717 Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 115 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) ATGATAATGACCAGTGTGGCA 0.433000 15 17 0 0 1 0 0 TANC1 85461 broad.mit.edu 37 2 160005688 160005688 + Missense_Mutation SNP G G A TCGA-RY-A83X-01A-11D-A36O-08 TCGA-RY-A83X-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3 519730cf-646f-4305-bb34-d96cf0de58d9 g.chr2:160005688G>A ENST00000263635.6 + 6 637 c.400G>A c.(400-402)Gca>Aca p.A134T TANC1_ENST00000454300.1_Intron NM_001145909.1|NM_033394.2 NP_001139381.1|NP_203752.2 Q9C0D5 TANC1_HUMAN tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 134 cell junction|postsynaptic density|postsynaptic membrane binding breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 77 CTGTTCGCCGGCAGCTCAAGA 0.453000 4 121 0 0 1 0 0 TYW1B 441250 broad.mit.edu 37 7 72081809 72081809 + RNA SNP T T C TCGA-RY-A83X-01A-11D-A36O-08 TCGA-RY-A83X-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3 519730cf-646f-4305-bb34-d96cf0de58d9 g.chr7:72081809T>C ENST00000438125.1 - 0 1246 Q6NUM6 TYW1B_HUMAN tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae) tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity GAACTTTCTCTGCAGTAGGTA 0.498000 5 82 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-RY-A83X-01A-11D-A36O-08 TCGA-RY-A83X-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3 519730cf-646f-4305-bb34-d96cf0de58d9 g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 34 60 0 0 1 0 0 NBPF9 400818 broad.mit.edu 37 1 144825416 144825416 + Missense_Mutation SNP G G T TCGA-RY-A83X-01A-11D-A36O-08 TCGA-RY-A83X-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3 519730cf-646f-4305-bb34-d96cf0de58d9 g.chr1:144825416G>T ENST00000440491.2 + 11 1368 c.1368G>T c.(1366-1368)tgG>tgT p.W456C NBPF9_ENST00000281815.8_Intron|NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000338347.4_Intron NM_001037675.2 NP_001032764.1 neuroblastoma breakpoint family, member 9 NS(2)|prostate(1) 3 TGGGTAGATGGTATTCGACTC 0.498000 4 206 0.150653 0.150653 1 1 0 UBC 7316 broad.mit.edu 37 12 125397211 125397211 + Silent SNP G G A TCGA-RY-A83X-01A-11D-A36O-08 TCGA-RY-A83X-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3 519730cf-646f-4305-bb34-d96cf0de58d9 g.chr12:125397211G>A ENST00000536769.1 - 1 2683 c.1107C>T c.(1105-1107)tcC>tcT p.S369S UBC_ENST00000538617.1_Intron|UBC_ENST00000546120.1_Silent_p.S293S|UBC_ENST00000339647.5_Silent_p.S369S P0CG48 UBC_HUMAN ubiquitin C 369 Ubiquitin-like 5. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308) GGTGCAAGGTGGACTCTTTCT 0.542000 87 227 0 0 1 0 0 RP11-417J8.6 0 broad.mit.edu 37 1 142713407 142713407 + RNA SNP C C T rs142431664 by1000genomes TCGA-RY-A83X-01A-11D-A36O-08 TCGA-RY-A83X-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3 519730cf-646f-4305-bb34-d96cf0de58d9 g.chr1:142713407C>T ENST00000369381.2 - 0 1198 CAGTAAGAAACTCATTCTTAT 0.318000 9 49 0 0 1 0 0 KRT81 3887 broad.mit.edu 37 12 52680923 52680923 + Missense_Mutation SNP C C T TCGA-RY-A83X-01A-11D-A36O-08 TCGA-RY-A83X-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3 519730cf-646f-4305-bb34-d96cf0de58d9 g.chr12:52680923C>T ENST00000327741.5 - 7 1278 c.1210G>A c.(1210-1212)Gcc>Acc p.A404T KRT86_ENST00000423955.2_Intron|KRT86_ENST00000544024.1_Intron NM_002281.3 NP_002272.2 Q14533 KRT81_HUMAN keratin 81 404 Coil 2.|Rod. keratin filament protein binding|structural molecule activity breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1) 16 BRCA - Breast invasive adenocarcinoma(357;0.189) CTGTAGGTGGCGATCTCGATG 0.642000 10 116 0 0 1 0 0 DACH2 117154 broad.mit.edu 37 X 85404019 85404019 + Missense_Mutation SNP G G A TCGA-RY-A83X-01A-11D-A36O-08 TCGA-RY-A83X-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3 519730cf-646f-4305-bb34-d96cf0de58d9 g.chrX:85404019G>A ENST00000373131.1 + 1 558 c.395G>A c.(394-396)cGc>cAc p.R132H DACH2_ENST00000373125.4_Missense_Mutation_p.R132H NM_001139514.1 NP_001132986.1 Q96NX9 DACH2_HUMAN dachshund homolog 2 (Drosophila) 132 DACHbox-N. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|nucleotide binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 71 CGGATCCTCCGCGGGCTGGGG 0.567000 5 72 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110530475 110530475 + Silent SNP G G A TCGA-RY-A83X-01A-11D-A36O-08 TCGA-RY-A83X-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3 519730cf-646f-4305-bb34-d96cf0de58d9 g.chr8:110530475G>A ENST00000378402.5 + 73 11873 c.11769G>A c.(11767-11769)ttG>ttA p.L3923L NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 3923 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) TTTATCTTTTGGTTAAAGGAA 0.378000 HNSCC(38;0.096) 20 46 0 0 1 0 0 EVPL 2125 broad.mit.edu 37 17 74004207 74004207 + Silent SNP C C T TCGA-RY-A83X-01A-11D-A36O-08 TCGA-RY-A83X-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3 519730cf-646f-4305-bb34-d96cf0de58d9 g.chr17:74004207C>T ENST00000301607.3 - 22 5332 c.5079G>A c.(5077-5079)acG>acA p.T1693T EVPL_ENST00000586740.1_Silent_p.T1715T NM_001988.2 NP_001979.2 Q92817 EVPL_HUMAN envoplakin 1693 Globular 2. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 TGTCCTTCCCCGTCTCGGGTT 0.617000 45 66 0 0 1 0 0 ADCY4 196883 broad.mit.edu 37 14 24787935 24787935 + Silent SNP C C T TCGA-RY-A83X-01A-11D-A36O-08 TCGA-RY-A83X-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3 519730cf-646f-4305-bb34-d96cf0de58d9 g.chr14:24787935C>T ENST00000310677.4 - 25 3119 c.3006G>A c.(3004-3006)ccG>ccA p.P1002P ADCY4_ENST00000418030.2_Silent_p.P1002P|ADCY4_ENST00000554068.2_Silent_p.P1002P NM_001198568.1|NM_001198592.1|NM_139247.3 NP_001185497.1|NP_001185521.1|NP_640340.2 Q8NFM4 ADCY4_HUMAN adenylate cyclase 4 1002 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding|protein binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(265;0.0192) TGTCATATTGCGGCTTCTGGG 0.522000 11 120 0 0 1 0 0 OR10H5 284433 broad.mit.edu 37 19 15905218 15905218 + Silent SNP C C T TCGA-RY-A83X-01A-11D-A36O-08 TCGA-RY-A83X-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3 519730cf-646f-4305-bb34-d96cf0de58d9 g.chr19:15905218C>T ENST00000308940.8 + 1 458 c.360C>T c.(358-360)taC>taT p.Y120Y NM_001004466.1 NP_001004466.1 Q8NGA6 O10H5_HUMAN olfactory receptor, family 10, subfamily H, member 5 120 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1) 20 TCATGGGCTACGACCGCTACG 0.642000 48 73 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593000 96593000 + Missense_Mutation SNP A A G rs111976783 TCGA-RY-A83X-01A-11D-A36O-08 TCGA-RY-A83X-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3 519730cf-646f-4305-bb34-d96cf0de58d9 g.chr2:96593000A>G ENST00000456556.1 - 28 1985 c.1901T>C c.(1900-1902)aTa>aCa p.I634T ankyrin repeat domain 36C p.I634T(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 TTCTGTGGCTATATTTGAAAC 0.338000 4 96 0 0 1 0 0 OR10Q1 219960 broad.mit.edu 37 11 57995753 57995753 + Missense_Mutation SNP C C T TCGA-RY-A83X-01A-11D-A36O-08 TCGA-RY-A83X-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3 519730cf-646f-4305-bb34-d96cf0de58d9 g.chr11:57995753C>T ENST00000316770.2 - 1 637 c.595G>A c.(595-597)Gtg>Atg p.V199M NM_001004471.2 NP_001004471.1 Q8NGQ4 O10Q1_HUMAN olfactory receptor, family 10, subfamily Q, member 1 199 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V199L(1) autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2) 35 Breast(21;0.0589) GCCTGGTGCACGCGGATGTCA 0.592000 21 28 0 0 1 0 0 NEO1 4756 broad.mit.edu 37 15 73418781 73418781 + Missense_Mutation SNP G G A TCGA-RY-A83X-01A-11D-A36O-08 TCGA-RY-A83X-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3 519730cf-646f-4305-bb34-d96cf0de58d9 g.chr15:73418781G>A ENST00000339362.5 + 5 1195 c.748G>A c.(748-750)Gta>Ata p.V250I NEO1_ENST00000261908.6_Missense_Mutation_p.V250I|NEO1_ENST00000558964.1_Missense_Mutation_p.V250I|NEO1_ENST00000560262.1_Missense_Mutation_p.V250I Q92859 NEO1_HUMAN neogenin 1 250 Ig-like C2-type 3. axon guidance|cell adhesion|positive regulation of muscle cell differentiation Golgi apparatus|integral to plasma membrane|nucleus NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2) 57 ATCAGACTTGGTATTTTTGAA 0.388000 4 114 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593025 96593025 + Missense_Mutation SNP C C T rs75189823 by1000genomes TCGA-RY-A83X-01A-11D-A36O-08 TCGA-RY-A83X-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3 519730cf-646f-4305-bb34-d96cf0de58d9 g.chr2:96593025C>T ENST00000456556.1 - 28 1960 c.1876G>A c.(1876-1878)Gat>Aat p.D626N ankyrin repeat domain 36C p.D626N(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 TCTTTCTCATCACTTGTAGCC 0.318000 5 102 0 0 1 0 0 ARMC9 80210 broad.mit.edu 37 2 232141451 232141451 + Silent SNP G G T rs141707678 by1000genomes TCGA-RY-A83X-01A-11D-A36O-08 TCGA-RY-A83X-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3 519730cf-646f-4305-bb34-d96cf0de58d9 g.chr2:232141451G>T ENST00000349938.4 + 15 1631 c.1437G>T c.(1435-1437)tcG>tcT p.S479S ARMC9_ENST00000483477.1_3'UTR NM_001271466.1|NM_025139.3 NP_001258395.1|NP_079415.3 Q7Z3E5 ARMC9_HUMAN armadillo repeat containing 9 479 binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205) Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189) TGGAGTACTCGGTGGCTTTGC 0.562000 38 94 2.51541e-25 2.76082e-25 1 1 0 ADAR 103 broad.mit.edu 37 1 154574120 154574120 + Missense_Mutation SNP A A C TCGA-RY-A83X-01A-11D-A36O-08 TCGA-RY-A83X-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3 519730cf-646f-4305-bb34-d96cf0de58d9 g.chr1:154574120A>C ENST00000368474.4 - 2 1197 c.998T>G c.(997-999)gTg>gGg p.V333G ADAR_ENST00000292205.5_Missense_Mutation_p.V376G|ADAR_ENST00000368471.3_Missense_Mutation_p.V38G NM_001111.4|NM_015840.3|NM_015841.3 NP_001102.2|NP_056655.2|NP_056656.2 P55265 DSRAD_HUMAN adenosine deaminase, RNA-specific 333 adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway cytoplasm|nucleolus|nucleoplasm DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2) 51 all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997) LUSC - Lung squamous cell carcinoma(543;0.185) Colorectal(1306;0.115) GTCAATTAGCACAGCATTTAT 0.453000 39 66 0 0 1 0 0 IL34 146433 broad.mit.edu 37 16 70693984 70693984 + Missense_Mutation SNP C C T TCGA-RY-A83X-01A-11D-A36O-08 TCGA-RY-A83X-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3 519730cf-646f-4305-bb34-d96cf0de58d9 g.chr16:70693984C>T ENST00000429149.2 + 7 1178 c.623C>T c.(622-624)gCg>gTg p.A208V IL34_ENST00000566361.1_Missense_Mutation_p.A183V|IL34_ENST00000288098.2_Missense_Mutation_p.A208V NM_001172771.1|NM_152456.2 NP_001166242.1|NP_689669.2 Q6ZMJ4 IL34_HUMAN interleukin 34 208 positive regulation of cell proliferation|positive regulation of protein phosphorylation extracellular space cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding p.A208V(1) breast(1)|central_nervous_system(1)|kidney(9)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(2) 17 TTGCAGTATGCGGCCACCCAG 0.647000 4 188 0 0 1 0 0 CCDC150 284992 broad.mit.edu 37 2 197541384 197541384 + Nonsense_Mutation SNP C C T TCGA-RY-A83X-01A-11D-A36O-08 TCGA-RY-A83X-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3 519730cf-646f-4305-bb34-d96cf0de58d9 g.chr2:197541384C>T ENST00000389175.4 + 12 1504 c.1369C>T c.(1369-1371)Cga>Tga p.R457* CCDC150_ENST00000472405.2_3'UTR|CCDC150_ENST00000272831.7_Nonsense_Mutation_p.R125*|CCDC150_ENST00000423093.2_Nonsense_Mutation_p.R125* NM_001080539.1 NP_001074008.1 Q8NCX0 CC150_HUMAN coiled-coil domain containing 150 457 breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 33 TGCAAGATTGCGAGGTGAATT 0.403000 23 47 0 0 1 0 0 PHF6 84295 broad.mit.edu 37 X 133511650 133511650 + Translation_Start_Site SNP G G C TCGA-RY-A83X-01A-11D-A36O-08 TCGA-RY-A83X-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3 519730cf-646f-4305-bb34-d96cf0de58d9 g.chrX:133511650G>C ENST00000332070.3 + 2 205 c.3G>C c.(1-3)atG>atC p.M1I PHF6_ENST00000416404.2_Start_Codon_SNP_p.M1I|PHF6_ENST00000370799.1_Start_Codon_SNP_p.M1I|PHF6_ENST00000370803.3_Start_Codon_SNP_p.M1I|PHF6_ENST00000394292.1_Start_Codon_SNP_p.M1I|PHF6_ENST00000370800.4_Start_Codon_SNP_p.M1I NM_032458.2 NP_115834.1 Q8IWS0 PHF6_HUMAN PHD finger protein 6 1 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus zinc ion binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(88)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)|urinary_tract(1) 103 Acute lymphoblastic leukemia(192;0.000127) TAAAAATCATGTCAAGCTCAG 0.343000 """F, N, Splice, Mis""" ETP ALL 43 101 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414340 20414340 + Silent SNP G G A TCGA-RY-A83X-01A-11D-A36O-08 TCGA-RY-A83X-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3 519730cf-646f-4305-bb34-d96cf0de58d9 g.chr9:20414340G>A ENST00000380338.4 - 5 790 c.504C>T c.(502-504)agC>agT p.S168S MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 168 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S168S(5) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctgctactgctgc 0.537000 T MLL ALL 5 120 0 0 1 0 0 SORCS3 22986 broad.mit.edu 37 10 106602584 106602584 + Missense_Mutation SNP A A G TCGA-RY-A83X-01A-11D-A36O-08 TCGA-RY-A83X-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3 519730cf-646f-4305-bb34-d96cf0de58d9 g.chr10:106602584A>G ENST00000369701.3 + 2 889 c.662A>G c.(661-663)aAc>aGc p.N221S NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 221 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) TATGACTTCAACCTGGGCAGC 0.483000 4 66 0 0 1 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803276 142803278 + RNA DEL AAC AAC - TCGA-RY-A83X-01A-11D-A36O-08 TCGA-RY-A83X-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3 519730cf-646f-4305-bb34-d96cf0de58d9 g.chr1:142803276_142803278delAAC ENST00000423385.1 - 0 1687_1689 ACCAAACCAAaacaacaacaaca 0.345 6 10 --- --- --- --- RP13-726E6.2 0 broad.mit.edu 37 11 3552650 3552651 + RNA INS - - G rs34642454 TCGA-RY-A83X-01A-11D-A36O-08 TCGA-RY-A83X-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3 519730cf-646f-4305-bb34-d96cf0de58d9 g.chr11:3552650_3552651insG ENST00000527970.1 - 0 285 CAGCACCCCATGGGGGGGCCCT 0.500 4 5 --- --- --- --- RRN3P2 0 broad.mit.edu 37 16 29118702 29118704 + RNA DEL AGC AGC - TCGA-RY-A83X-01A-11D-A36O-08 TCGA-RY-A83X-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3 519730cf-646f-4305-bb34-d96cf0de58d9 g.chr16:29118702_29118704delAGC ENST00000564580.1 + 0 1448 CTB-134H23.3_ENST00000562618.1_RNA GCCAGGTCCAagcagcagcagca 0.660 2 4 --- --- --- --- CIC 23152 broad.mit.edu 37 19 42795089 42795089 + Frame_Shift_Del DEL G G - TCGA-RY-A83X-01A-11D-A36O-08 TCGA-RY-A83X-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3 519730cf-646f-4305-bb34-d96cf0de58d9 g.chr19:42795089delG ENST00000572681.2 + 11 4964 c.4896delG c.(4894-4896)ctfs p.L1632fs CIC_ENST00000160740.3_Frame_Shift_Del_p.L723fs|CIC_ENST00000575354.2_Frame_Shift_Del_p.L723fs Q96RK0 CIC_HUMAN capicua transcriptional repressor 723 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) GCTCCCCGCTGGGTGTCAGCT 0.652 """Mis, F, S""" oligodendroglioma 18 10 --- --- --- ---