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 PTPRR 5801 broad.mit.edu 37 12 71139698 71139698 + Missense_Mutation SNP C C T TCGA-DE-A69K-01A-11D-A397-08 TCGA-DE-A69K-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c76f3f11-d2e6-4f77-9928-60ee989f34bd f2f437ba-f2c0-48c9-a7d9-4840c7537311 g.chr12:71139698C>T ENST00000283228.2 - 6 1359 c.907G>A c.(907-909)Gtg>Atg p.V303M PTPRR_ENST00000342084.4_Missense_Mutation_p.V191M|PTPRR_ENST00000440835.2_Missense_Mutation_p.V58M|PTPRR_ENST00000549308.1_Missense_Mutation_p.V58M|PTPRR_ENST00000378778.1_Missense_Mutation_p.V97M NM_002849.3 NP_002840.2 Q15256 PTPRR_HUMAN protein tyrosine phosphatase, receptor type, R 303 in utero embryonic development cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 41 GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132) COAD - Colon adenocarcinoma(1;0.136) TGAGGGTCCACGACAACATTC 0.537000 21 36 0 0 1 0 0 SV2C 22987 broad.mit.edu 37 5 75594619 75594619 + Splice_Site SNP A A T TCGA-DE-A69K-01A-11D-A397-08 TCGA-DE-A69K-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c76f3f11-d2e6-4f77-9928-60ee989f34bd f2f437ba-f2c0-48c9-a7d9-4840c7537311 g.chr5:75594619A>T ENST00000502798.2 + 10 1945 c.1502_splice c.e10-1 p.R501_splice SV2C_ENST00000322285.7_Splice_Site_p.R501_splice|RP11-466P24.6_ENST00000502589.1_RNA NM_014979.1 NP_055794.1 Q496J9 SV2C_HUMAN synaptic vesicle glycoprotein 2C 501 neurotransmitter transport cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184) OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40) TGTTGGGCAGATTCATAGGGG 0.378000 40 67 0 0 1 0 0 AKAP8 10270 broad.mit.edu 37 19 15482768 15482768 + Missense_Mutation SNP T T C TCGA-DE-A69K-01A-11D-A397-08 TCGA-DE-A69K-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c76f3f11-d2e6-4f77-9928-60ee989f34bd f2f437ba-f2c0-48c9-a7d9-4840c7537311 g.chr19:15482768T>C ENST00000269701.2 - 7 1093 c.1033A>G c.(1033-1035)Aag>Gag p.K345E NM_005858.3 NP_005849.1 O43823 AKAP8_HUMAN A kinase (PRKA) anchor protein 8 345 signal transduction nuclear matrix breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2) 26 CTTACACCCTTGAATTCTTCA 0.527000 3 52 0 0 1 0 0 HAUS6 54801 broad.mit.edu 37 9 19093294 19093294 + Missense_Mutation SNP C C T TCGA-DE-A69K-01A-11D-A397-08 TCGA-DE-A69K-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c76f3f11-d2e6-4f77-9928-60ee989f34bd f2f437ba-f2c0-48c9-a7d9-4840c7537311 g.chr9:19093294C>T ENST00000380502.3 - 4 778 c.311G>A c.(310-312)tGt>tAt p.C104Y NM_017645.3 NP_060115.3 Q7Z4H7 HAUS6_HUMAN HAUS augmin-like complex, subunit 6 104 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|nucleus|spindle autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 GCTACTTCCACATTCACCCTA 0.343000 14 20 0 0 1 0 0 OR13H1 347468 broad.mit.edu 37 X 130678747 130678747 + Missense_Mutation SNP C C T TCGA-DE-A69K-01A-11D-A397-08 TCGA-DE-A69K-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c76f3f11-d2e6-4f77-9928-60ee989f34bd f2f437ba-f2c0-48c9-a7d9-4840c7537311 g.chrX:130678747C>T ENST00000338616.3 + 1 798 c.700C>T c.(700-702)Ctc>Ttc p.L234F NM_001004486.1 NP_001004486.1 Q8NG92 O13H1_HUMAN olfactory receptor, family 13, subfamily H, member 1 234 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1) 15 Acute lymphoblastic leukemia(192;0.000636) CCAGGGCAGGCTCAAGGCCTT 0.493000 4 158 0 0 1 0 0 MT-CO1 4512 broad.mit.edu 37 MT 6924 6924 + Missense_Mutation SNP G G A TCGA-DE-A69K-01A-11D-A397-08 TCGA-DE-A69K-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c76f3f11-d2e6-4f77-9928-60ee989f34bd f2f437ba-f2c0-48c9-a7d9-4840c7537311 g.chrM:6924G>A ENST00000361624.2 + 1 1021 c.1021G>A c.(1021-1023)Gcc>Acc p.341_341insT mitochondrially encoded cytochrome c oxidase I breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3) 54 CAGTGCTCTGAGCCCTAGGAT 0.483000 7 16 0 0 1 0 0 CNR1 0 broad.mit.edu 37 6 88854552 88854552 + Missense_Mutation SNP G G A TCGA-DE-A69K-01A-11D-A397-08 TCGA-DE-A69K-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c76f3f11-d2e6-4f77-9928-60ee989f34bd f2f437ba-f2c0-48c9-a7d9-4840c7537311 g.chr6:88854552G>A ENST00000537554.1 - 2 4004 c.442C>T c.(442-444)Cgc>Tgc p.R148C CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000369501.2_Missense_Mutation_p.R148C|CNR1_ENST00000428600.2_Missense_Mutation_p.R148C|CNR1_ENST00000369499.2_Missense_Mutation_p.R148C|CNR1_ENST00000535130.1_Missense_Mutation_p.R148C|CNR1_ENST00000549890.1_Missense_Mutation_p.R148C|CNR1_ENST00000549716.1_Missense_Mutation_p.R87C|CNR1_ENST00000468898.1_Missense_Mutation_p.R115C NM_001160226.1|NM_001160258.1 NP_001153698.1|NP_001153730.1 P21554 CNR1_HUMAN cannabinoid receptor 1 (brain) 148 G-protein signaling, coupled to cAMP nucleotide second messenger integral to plasma membrane cannabinoid receptor activity|protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1) 37 all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011) BRCA - Breast invasive adenocarcinoma(108;0.15) Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155) GGCCTGCAGCGGAGGCTGCGG 0.607000 14 19 0 0 1 0 0 ARHGEF40 55701 broad.mit.edu 37 14 21542982 21542982 + Missense_Mutation SNP G G A TCGA-DE-A69K-01A-11D-A397-08 TCGA-DE-A69K-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c76f3f11-d2e6-4f77-9928-60ee989f34bd f2f437ba-f2c0-48c9-a7d9-4840c7537311 g.chr14:21542982G>A ENST00000298694.4 + 3 1220 c.1093G>A c.(1093-1095)Gct>Act p.A365T ARHGEF40_ENST00000298693.3_Missense_Mutation_p.A365T Q8TER5 ARH40_HUMAN Rho guanine nucleotide exchange factor (GEF) 40 365 Gly-rich. regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2) 9 AGGCCAGGGGGCTGAAGGACC 0.637000 20 18 0 0 1 0 0 KANK1 23189 broad.mit.edu 37 9 734778 734778 + Silent SNP A A G TCGA-DE-A69K-01A-11D-A397-08 TCGA-DE-A69K-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c76f3f11-d2e6-4f77-9928-60ee989f34bd f2f437ba-f2c0-48c9-a7d9-4840c7537311 g.chr9:734778A>G ENST00000382303.1 + 11 3928 c.3276A>G c.(3274-3276)gcA>gcG p.A1092A KANK1_ENST00000382293.3_Silent_p.A934A|KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382297.2_Silent_p.A1092A NM_001256876.1 NP_001243805.1 Q14678 KANK1_HUMAN KN motif and ankyrin repeat domains 1 1092 negative regulation of actin filament polymerization cytoplasm autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1) 43 Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128) Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222) TGTTGTCTGCATGCAACTTAC 0.363000 12 24 0 0 1 0 0 LRFN3 79414 broad.mit.edu 37 19 36431282 36431282 + Missense_Mutation SNP G G A TCGA-DE-A69K-01A-11D-A397-08 TCGA-DE-A69K-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c76f3f11-d2e6-4f77-9928-60ee989f34bd f2f437ba-f2c0-48c9-a7d9-4840c7537311 g.chr19:36431282G>A ENST00000588831.1 + 3 2009 c.955G>A c.(955-957)Gca>Aca p.A319T LRFN3_ENST00000246529.3_Missense_Mutation_p.A319T Q9BTN0 LRFN3_HUMAN leucine rich repeat and fibronectin type III domain containing 3 319 Ig-like. cell adhesion axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1) 12 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) GCGCTGCCGGGCAGTGGGGGA 0.716000 6 6 0 0 1 0 0 GAS2L3 283431 broad.mit.edu 37 12 101005793 101005793 + Missense_Mutation SNP A A G TCGA-DE-A69K-01A-11D-A397-08 TCGA-DE-A69K-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c76f3f11-d2e6-4f77-9928-60ee989f34bd f2f437ba-f2c0-48c9-a7d9-4840c7537311 g.chr12:101005793A>G ENST00000537247.1 + 6 961 c.7A>G c.(7-9)Aaa>Gaa p.K3E GAS2L3_ENST00000266754.5_Missense_Mutation_p.K107E|GAS2L3_ENST00000539410.1_Missense_Mutation_p.K107E|GAS2L3_ENST00000547754.1_Missense_Mutation_p.K107E Q86XJ1 GA2L3_HUMAN growth arrest-specific 2 like 3 107 cell cycle arrest endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 35 TCCAATGAGAAAAGTGCCCTG 0.353000 5 63 0 0 1 0 0 DUSP27 92235 broad.mit.edu 37 1 167096881 167096881 + Missense_Mutation SNP G G A TCGA-DE-A69K-01A-11D-A397-08 TCGA-DE-A69K-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c76f3f11-d2e6-4f77-9928-60ee989f34bd f2f437ba-f2c0-48c9-a7d9-4840c7537311 g.chr1:167096881G>A ENST00000361200.2 + 6 2679 c.2513G>A c.(2512-2514)cGg>cAg p.R838Q DUSP27_ENST00000443333.1_Missense_Mutation_p.R838Q|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Missense_Mutation_p.R838Q Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 (putative) 838 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3) 89 GAACTTGGCCGGAAGGAGAAG 0.517000 5 59 0 0 1 0 0 PRSS53 339105 broad.mit.edu 37 16 31098889 31098889 + Missense_Mutation SNP A A G TCGA-DE-A69K-01A-11D-A397-08 TCGA-DE-A69K-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c76f3f11-d2e6-4f77-9928-60ee989f34bd f2f437ba-f2c0-48c9-a7d9-4840c7537311 g.chr16:31098889A>G ENST00000280606.6 - 3 364 c.211T>C c.(211-213)Tgg>Cgg p.W71R RP11-196G11.1_ENST00000529564.1_Missense_Mutation_p.W146R NM_001039503.2 NP_001034592.1 Q2L4Q9 PRS53_HUMAN protease, serine, 53 71 Peptidase S1 1. proteolysis extracellular region serine-type endopeptidase activity large_intestine(1)|lung(3) 4 GTGAGGACCCAGGTGTCTGCC 0.627000 3 24 0 0 1 0 0 CELSR1 9620 broad.mit.edu 37 22 46835246 46835246 + Missense_Mutation SNP C C G TCGA-DE-A69K-01A-11D-A397-08 TCGA-DE-A69K-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c76f3f11-d2e6-4f77-9928-60ee989f34bd f2f437ba-f2c0-48c9-a7d9-4840c7537311 g.chr22:46835246C>G ENST00000262738.3 - 3 4245 c.4246G>C c.(4246-4248)Ggc>Cgc p.G1416R NM_014246.1 NP_055061.1 Q9NYQ6 CELR1_HUMAN cadherin, EGF LAG seven-pass G-type receptor 1 1416 EGF-like 3; calcium-binding. central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 95 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) ACGCAGGTGCCCCCGTTCTTG 0.647000 10 37 0 0 1 0 0 PAXIP1 22976 broad.mit.edu 37 7 154754101 154754101 + Missense_Mutation SNP A A C TCGA-DE-A69K-01A-11D-A397-08 TCGA-DE-A69K-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c76f3f11-d2e6-4f77-9928-60ee989f34bd f2f437ba-f2c0-48c9-a7d9-4840c7537311 g.chr7:154754101A>C ENST00000404141.1 - 10 2211 c.2057T>G c.(2056-2058)aTg>aGg p.M686R PAXIP1_ENST00000473219.1_5'UTR|PAXIP1_ENST00000397192.1_Missense_Mutation_p.M686R Q6ZW49 PAXI1_HUMAN PAX interacting (with transcription-activation domain) protein 1 686 BRCT 3.|Interaction with TP53BP1. DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent histone methyltransferase complex|nuclear matrix NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 33 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.0296) UCEC - Uterine corpus endometrioid carcinoma (81;0.178) CGGCGGTACCATTTTCTTCTT 0.438000 14 24 0 0 1 0 0 NALCN 259232 broad.mit.edu 37 13 101797195 101797195 + Missense_Mutation SNP A A G TCGA-DE-A69K-01A-11D-A397-08 TCGA-DE-A69K-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c76f3f11-d2e6-4f77-9928-60ee989f34bd f2f437ba-f2c0-48c9-a7d9-4840c7537311 g.chr13:101797195A>G ENST00000251127.6 - 16 1973 c.1892T>C c.(1891-1893)cTg>cCg p.L631P NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 631 integral to membrane sodium channel activity|voltage-gated ion channel activity NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) AAAGATTCGCAGGCGTAAAGG 0.353000 4 138 0 0 1 0 0 DDX11 1663 broad.mit.edu 37 12 31238023 31238023 + Missense_Mutation SNP G G A TCGA-DE-A69K-01A-11D-A397-08 TCGA-DE-A69K-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c76f3f11-d2e6-4f77-9928-60ee989f34bd f2f437ba-f2c0-48c9-a7d9-4840c7537311 g.chr12:31238023G>A ENST00000251758.5 + 5 852 c.601G>A c.(601-603)Gaa>Aaa p.E201K DDX11_ENST00000545668.1_Missense_Mutation_p.E201K|DDX11_ENST00000228264.6_Missense_Mutation_p.E175K|DDX11_ENST00000542838.1_Missense_Mutation_p.E201K|DDX11_ENST00000407793.2_Missense_Mutation_p.E201K|DDX11_ENST00000350437.4_Missense_Mutation_p.E201K Q96FC9 DDX11_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 201 Glu-rich.|Helicase ATP-binding. G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion midbody|nuclear chromatin|nucleolus|spindle pole ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 57 all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233) GGTCCTCGCCGAATACGAGAG 0.617000 Multiple Myeloma(12;0.14) 4 4 0 0 1 0 0 ZNRD1-AS1 0 broad.mit.edu 37 6 29977342 29977342 + RNA SNP A A T rs116382006 by1000genomes TCGA-DE-A69K-01A-11D-A397-08 TCGA-DE-A69K-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c76f3f11-d2e6-4f77-9928-60ee989f34bd f2f437ba-f2c0-48c9-a7d9-4840c7537311 g.chr6:29977342A>T ENST00000376797.3 - 0 731 ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA TGGGACTGAGAGGCAAGATTT 0.438000 4 57 0 0 1 0 0 MYO10 4651 broad.mit.edu 37 5 16702681 16702682 + Frame_Shift_Ins INS - - CT TCGA-DE-A69K-01A-11D-A397-08 TCGA-DE-A69K-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c76f3f11-d2e6-4f77-9928-60ee989f34bd f2f437ba-f2c0-48c9-a7d9-4840c7537311 g.chr5:16702681_16702682insCT ENST00000513610.1 - 24 2980_2981 c.2526_2527insAG c.(2524-2529)gagaagfs p.K843fs MYO10_ENST00000427430.2_Frame_Shift_Ins_p.K200fs|MYO10_ENST00000515803.1_Frame_Shift_Ins_p.K182fs|MYO10_ENST00000505695.1_Frame_Shift_Ins_p.K182fs|MYO10_ENST00000274203.9_Frame_Shift_Ins_p.K200fs NM_012334.2 NP_036466.2 Q9HD67 MYO10_HUMAN myosin X 843 axon guidance|signal transduction myosin complex actin binding|ATP binding|motor activity NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 86 GCTTCTCTTCGCTCTCTCTCTC 0.426 2 4 --- --- --- --- CTC-338M12.9 0 broad.mit.edu 37 5 180708659 180708659 + RNA DEL G G - TCGA-DE-A69K-01A-11D-A397-08 TCGA-DE-A69K-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c76f3f11-d2e6-4f77-9928-60ee989f34bd f2f437ba-f2c0-48c9-a7d9-4840c7537311 g.chr5:180708659delG ENST00000412295.2 + 0 238 AGCGGTAGGAGgggggctgga 0.711 2 4 --- --- --- --- CUX1 1523 broad.mit.edu 37 7 101758552 101758555 + Splice_Site DEL AAGT AAGT - TCGA-DE-A69K-01A-11D-A397-08 TCGA-DE-A69K-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c76f3f11-d2e6-4f77-9928-60ee989f34bd f2f437ba-f2c0-48c9-a7d9-4840c7537311 g.chr7:101758552_101758555delAAGT ENST00000360264.3 + 8 726_727 c.707_splice c.e8+1 p.236_splice CUX1_ENST00000550008.2_Splice_Site_p.225_splice|CUX1_ENST00000549414.2_Splice_Site_p.225_splice|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000546411.2_Splice_Site_p.225_splice|CUX1_ENST00000292535.7_Splice_Site_p.225_splice|CUX1_ENST00000437600.4_Splice_Site_p.236_splice|CUX1_ENST00000292538.4_Splice_Site_p.236_splice|CUX1_ENST00000556210.1_Splice_Site_p.225_splice|CUX1_ENST00000425244.2_Splice_Site_p.190_splice|CUX1_ENST00000547394.2_Splice_Site_p.220_splice|CUX1_ENST00000393824.3_Splice_Site_p.199_splice NM_001202543.1 NP_001189472.1 P39880 CUX1_HUMAN cut-like homeobox 1 225 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5) 70 AACTACTGCAAAGTAAGTCTCTCT 0.412 22 42 --- --- --- --- RP11-410D17.2 0 broad.mit.edu 37 16 58926335 58926336 + RNA INS - - C rs113534201 by1000genomes TCGA-DE-A69K-01A-11D-A397-08 TCGA-DE-A69K-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c76f3f11-d2e6-4f77-9928-60ee989f34bd f2f437ba-f2c0-48c9-a7d9-4840c7537311 g.chr16:58926335_58926336insC ENST00000500117.1 + 0 679 caccaccatcacccccactact 0.535 2 4 --- --- --- ---