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 NPBWR2 2832 broad.mit.edu 37 20 62737689 62737689 + Missense_Mutation SNP C C T TCGA-S9-A7J1-01A-21D-A34J-08 TCGA-S9-A7J1-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62d732f2-263a-4721-966c-18984791f8f2 789b7dd2-8169-4519-839d-8f7b66213675 g.chr20:62737689C>T ENST00000369768.1 - 1 835 c.496G>A c.(496-498)Gcc>Acc p.A166T NM_005286.2 NP_005277.2 P48146 NPBW2_HUMAN neuropeptides B/W receptor 2 166 plasma membrane opioid receptor activity|protein binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09) CACAGGCTGGCGACCTTCGCC 0.647000 4 26 0 0 1 0 0 KIF23 9493 broad.mit.edu 37 15 69727846 69727846 + Missense_Mutation SNP C C T TCGA-S9-A7J1-01A-21D-A34J-08 TCGA-S9-A7J1-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62d732f2-263a-4721-966c-18984791f8f2 789b7dd2-8169-4519-839d-8f7b66213675 g.chr15:69727846C>T ENST00000260363.4 + 11 1214 c.1097C>T c.(1096-1098)aCg>aTg p.T366M KIF23_ENST00000537891.1_Missense_Mutation_p.T183M|KIF23_ENST00000558585.1_Missense_Mutation_p.T183M|KIF23_ENST00000395392.2_Missense_Mutation_p.T366M|KIF23_ENST00000352331.4_Missense_Mutation_p.T366M|KIF23_ENST00000559279.1_Missense_Mutation_p.T366M NM_138555.2 NP_612565.1 Q02241 KIF23_HUMAN kinesin family member 23 366 blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle ATP binding|microtubule motor activity|protein binding central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1) 21 TCACTAATGACGCTAAGAACA 0.353000 15 53 0 0 1 0 0 TOP3A 7156 broad.mit.edu 37 17 18181116 18181116 + Missense_Mutation SNP G G T TCGA-S9-A7J1-01A-21D-A34J-08 TCGA-S9-A7J1-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62d732f2-263a-4721-966c-18984791f8f2 789b7dd2-8169-4519-839d-8f7b66213675 g.chr17:18181116G>T ENST00000321105.5 - 18 2914 c.2700C>A c.(2698-2700)agC>agA p.S900R TOP3A_ENST00000542570.1_Missense_Mutation_p.S805R|TOP3A_ENST00000540524.1_Missense_Mutation_p.S430R NM_004618.3 NP_004609.1 Q13472 TOP3A_HUMAN topoisomerase (DNA) III alpha 900 2 X 27 AA approximate repeats. DNA topological change|meiosis chromosome|PML body ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1) 36 CGGAGGGCTGGCTGCAAAGGC 0.622000 23 45 1.10513e-12 1.23909e-12 1 1 0 CHRFAM7A 89832 broad.mit.edu 37 15 30664498 30664498 + Missense_Mutation SNP C C A TCGA-S9-A7J1-01A-21D-A34J-08 TCGA-S9-A7J1-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62d732f2-263a-4721-966c-18984791f8f2 789b7dd2-8169-4519-839d-8f7b66213675 g.chr15:30664498C>A ENST00000397827.3 - 6 876 c.102G>T c.(100-102)gaG>gaT p.E34D CHRFAM7A_ENST00000299847.2_Missense_Mutation_p.E125D|CHRFAM7A_ENST00000401522.3_Missense_Mutation_p.E34D NM_148911.1 NP_683709.1 Q494W8 CRFM7_HUMAN CHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion 125 integral to membrane|postsynaptic membrane extracellular ligand-gated ion channel activity large_intestine(3)|lung(1)|skin(2) 6 all_lung(180;3.42e-11)|Breast(32;0.000153) all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153) CAGGGTAGGGCTCTTTGCAGC 0.542000 10 27 0.000442599 0.000467891 1 1 0 FES 2242 broad.mit.edu 37 15 91433669 91433669 + Missense_Mutation SNP G G C TCGA-S9-A7J1-01A-21D-A34J-08 TCGA-S9-A7J1-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62d732f2-263a-4721-966c-18984791f8f2 789b7dd2-8169-4519-839d-8f7b66213675 g.chr15:91433669G>C ENST00000328850.3 + 10 1417 c.1275G>C c.(1273-1275)gaG>gaC p.E425D FES_ENST00000444422.2_Missense_Mutation_p.E425D|FES_ENST00000448367.1_3'UTR|FES_ENST00000450438.2_Missense_Mutation_p.E367D|FES_ENST00000414248.2_Missense_Mutation_p.E367D|FES_ENST00000394300.3_Missense_Mutation_p.E367D|FES_ENST00000394302.1_Missense_Mutation_p.E367D NM_002005.3 NP_001996.1 P07332 FES_HUMAN feline sarcoma oncogene 425 axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding lung(2)|ovary(1) 3 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.229) CCACGCTGGAGATCCTTAAGA 0.612000 22 41 0 0 1 0 0 XIRP1 165904 broad.mit.edu 37 3 39225411 39225411 + Silent SNP G G A TCGA-S9-A7J1-01A-21D-A34J-08 TCGA-S9-A7J1-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62d732f2-263a-4721-966c-18984791f8f2 789b7dd2-8169-4519-839d-8f7b66213675 g.chr3:39225411G>A ENST00000340369.3 - 2 5754 c.5526C>T c.(5524-5526)gcC>gcT p.A1842A XIRP1_ENST00000421646.1_Silent_p.A525A|XIRP1_ENST00000396251.1_3'UTR NM_194293.2 NP_919269.2 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 1842 Interaction with FLNC. actin binding breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6) 71 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) GGCCTCACTGGGCAGCTGGCT 0.637000 10 13 0 0 1 0 0 UAP1 6675 broad.mit.edu 37 1 162560139 162560139 + Missense_Mutation SNP G G A rs146235126 TCGA-S9-A7J1-01A-21D-A34J-08 TCGA-S9-A7J1-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62d732f2-263a-4721-966c-18984791f8f2 789b7dd2-8169-4519-839d-8f7b66213675 g.chr1:162560139G>A ENST00000271469.3 + 8 1498 c.1196G>A c.(1195-1197)cGa>cAa p.R399Q UAP1_ENST00000367926.4_Missense_Mutation_p.R399Q|UAP1_ENST00000367924.1_Missense_Mutation_p.R399Q|UAP1_ENST00000367925.1_Missense_Mutation_p.R399Q Q16222 UAP1_HUMAN UDP-N-acteylglucosamine pyrophosphorylase 1 399 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process cytosol|nucleus|plasma membrane UDP-N-acetylglucosamine diphosphorylase activity breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1) 22 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.126) GAAGTATTGCGAGAAGATGAG 0.398000 8 128 0 0 1 0 0 ARHGAP39 80728 broad.mit.edu 37 8 145806482 145806482 + Missense_Mutation SNP G G A TCGA-S9-A7J1-01A-21D-A34J-08 TCGA-S9-A7J1-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62d732f2-263a-4721-966c-18984791f8f2 789b7dd2-8169-4519-839d-8f7b66213675 g.chr8:145806482G>A ENST00000276826.5 - 2 461 c.260C>T c.(259-261)aCg>aTg p.T87M ARHGAP39_ENST00000377307.2_Missense_Mutation_p.T87M|ARHGAP39_ENST00000540274.1_Missense_Mutation_p.T87M Q9C0H5 RHG39_HUMAN Rho GTPase activating protein 39 87 WW 2. axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|nucleus GTPase activator activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 CGTGCGCTGCGTGCTGGCATT 0.682000 3 8 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90161926 90161926 + RNA SNP T T C rs8061283 by1000genomes TCGA-S9-A7J1-01A-21D-A34J-08 TCGA-S9-A7J1-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62d732f2-263a-4721-966c-18984791f8f2 789b7dd2-8169-4519-839d-8f7b66213675 g.chr16:90161926T>C ENST00000564451.1 + 0 1279 TUBB8P7_ENST00000567960.1_RNA p.I221T(3) CCCACACCCATCTATGGTGAC 0.527000 5 34 0 0 1 0 0 SLITRK5 26050 broad.mit.edu 37 13 88327979 88327979 + Silent SNP A A T TCGA-S9-A7J1-01A-21D-A34J-08 TCGA-S9-A7J1-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62d732f2-263a-4721-966c-18984791f8f2 789b7dd2-8169-4519-839d-8f7b66213675 g.chr13:88327979A>T ENST00000325089.6 + 2 555 c.336A>T c.(334-336)ctA>ctT p.L112L SLITRK5_ENST00000400028.3_Intron NM_015567.1 NP_056382.1 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 112 integral to membrane breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4) 81 all_neural(89;0.101)|Medulloblastoma(90;0.163) TTTTGCATCTAGGTAGCAATG 0.458000 73 129 0 0 1 0 0 COPB1 1315 broad.mit.edu 37 11 14515905 14515905 + Missense_Mutation SNP G G C TCGA-S9-A7J1-01A-21D-A34J-08 TCGA-S9-A7J1-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62d732f2-263a-4721-966c-18984791f8f2 789b7dd2-8169-4519-839d-8f7b66213675 g.chr11:14515905G>C ENST00000249923.3 - 3 472 c.172C>G c.(172-174)Ctt>Gtt p.L58V PSMA1_ENST00000555531.1_3'UTR|PSMA1_ENST00000419365.2_3'UTR|COPB1_ENST00000439561.2_Missense_Mutation_p.L58V NM_016451.4 NP_057535.1 P53618 COPB_HUMAN coatomer protein complex, subunit beta 1 58 COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane protein binding|structural molecule activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 36 GTCATCAGAAGTCCAGGAAGT 0.333000 35 71 0 0 1 0 0 SLC10A2 6555 broad.mit.edu 37 13 103710695 103710695 + Missense_Mutation SNP C C T TCGA-S9-A7J1-01A-21D-A34J-08 TCGA-S9-A7J1-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62d732f2-263a-4721-966c-18984791f8f2 789b7dd2-8169-4519-839d-8f7b66213675 g.chr13:103710695C>T ENST00000245312.3 - 2 1011 c.415G>A c.(415-417)Gga>Aga p.G139R NM_000452.2 NP_000443.1 Q12908 NTCP2_HUMAN solute carrier family 10 (sodium/bile acid cotransporter), member 2 139 bile acid metabolic process|organic anion transport integral to plasma membrane bile acid:sodium symporter activity breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) GGCATCATTCCGAGGGCAAGC 0.473000 15 32 0 0 1 0 0 PODXL 5420 broad.mit.edu 37 7 131191446 131191446 + Missense_Mutation SNP A A T TCGA-S9-A7J1-01A-21D-A34J-08 TCGA-S9-A7J1-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62d732f2-263a-4721-966c-18984791f8f2 789b7dd2-8169-4519-839d-8f7b66213675 g.chr7:131191446A>T ENST00000541194.1 - 6 1404 c.1147T>A c.(1147-1149)Tgc>Agc p.C383S PODXL_ENST00000322985.9_Missense_Mutation_p.C349S|PODXL_ENST00000378555.3_Missense_Mutation_p.C381S|PODXL_ENST00000537928.1_Missense_Mutation_p.C349S NM_001018111.2 NP_001018121.1 O00592 PODXL_HUMAN podocalyxin-like 381 cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 24 Melanoma(18;0.162) ACTGCTCGGCATATCAGTGAG 0.587000 OREG0018320 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 53 94 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-S9-A7J1-01A-21D-A34J-08 TCGA-S9-A7J1-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62d732f2-263a-4721-966c-18984791f8f2 789b7dd2-8169-4519-839d-8f7b66213675 g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_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 35 60 0 0 1 0 0 AMBP 259 broad.mit.edu 37 9 116823806 116823806 + Missense_Mutation SNP C C T TCGA-S9-A7J1-01A-21D-A34J-08 TCGA-S9-A7J1-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62d732f2-263a-4721-966c-18984791f8f2 789b7dd2-8169-4519-839d-8f7b66213675 g.chr9:116823806C>T ENST00000265132.3 - 8 1013 c.751G>A c.(751-753)Ggt>Agt p.G251S NM_001633.3 NP_001624.1 P02760 AMBP_HUMAN alpha-1-microglobulin/bikunin precursor 251 BPTI/Kunitz inhibitor 1. cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage extracellular region|plasma membrane calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 11 Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064) ATGGATGTACCATTATAGAAA 0.557000 4 81 0 0 1 0 0 GGT3P 0 broad.mit.edu 37 22 18778612 18778612 + RNA SNP C C T rs1055042 by1000genomes TCGA-S9-A7J1-01A-21D-A34J-08 TCGA-S9-A7J1-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62d732f2-263a-4721-966c-18984791f8f2 789b7dd2-8169-4519-839d-8f7b66213675 g.chr22:18778612C>T ENST00000412448.1 - 0 793 GCGGCCACGGCAGCCCTGGTG 0.637000 3 23 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90161902 90161902 + RNA SNP A A G rs6500471 by1000genomes TCGA-S9-A7J1-01A-21D-A34J-08 TCGA-S9-A7J1-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62d732f2-263a-4721-966c-18984791f8f2 789b7dd2-8169-4519-839d-8f7b66213675 g.chr16:90161902A>G ENST00000564451.1 + 0 1255 TUBB8P7_ENST00000567960.1_RNA p.K213R(8) ATATGTTCCAAGACCCTAAAA 0.537000 5 41 0 0 1 0 0 RIBC2 26150 broad.mit.edu 37 22 45826809 45826809 + Missense_Mutation SNP C C G TCGA-S9-A7J1-01A-21D-A34J-08 TCGA-S9-A7J1-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62d732f2-263a-4721-966c-18984791f8f2 789b7dd2-8169-4519-839d-8f7b66213675 g.chr22:45826809C>G ENST00000342894.3 + 6 1128 c.714C>G c.(712-714)gaC>gaG p.D238E RIBC2_ENST00000538017.1_Missense_Mutation_p.D306E|RIBC2_ENST00000466226.1_3'UTR Q9H4K1 RIBC2_HUMAN RIB43A domain with coiled-coils 2 238 NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|skin(2)|urinary_tract(1) 10 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178) GCCAGCGAGACCTGGACTGGG 0.642000 5 14 0 0 1 0 0 AP005901.1 0 broad.mit.edu 37 18 15323336 15323336 + RNA SNP G G A TCGA-S9-A7J1-01A-21D-A34J-08 TCGA-S9-A7J1-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62d732f2-263a-4721-966c-18984791f8f2 789b7dd2-8169-4519-839d-8f7b66213675 g.chr18:15323336G>A ENST00000455308.2 - 0 512 NR_027417.1 TTTCCTTATGGCCAATAAAAG 0.289000 3 20 0 0 1 0 0 PCSK5 5125 broad.mit.edu 37 9 78953152 78953152 + Silent SNP C C T TCGA-S9-A7J1-01A-21D-A34J-08 TCGA-S9-A7J1-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62d732f2-263a-4721-966c-18984791f8f2 789b7dd2-8169-4519-839d-8f7b66213675 g.chr9:78953152C>T ENST00000545128.1 + 34 5212 c.4674C>T c.(4672-4674)taC>taT p.Y1558Y NM_001190482.1 NP_001177411.1 Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 729 anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 TCAGATATTACGCAGACAACT 0.488000 11 15 0 0 1 0 0 IQGAP2 10788 broad.mit.edu 37 5 75871579 75871579 + Missense_Mutation SNP G G A TCGA-S9-A7J1-01A-21D-A34J-08 TCGA-S9-A7J1-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62d732f2-263a-4721-966c-18984791f8f2 789b7dd2-8169-4519-839d-8f7b66213675 g.chr5:75871579G>A ENST00000274364.6 + 5 740 c.443G>A c.(442-444)tGc>tAc p.C148Y IQGAP2_ENST00000379730.3_5'UTR NM_006633.2 NP_006624.2 Q13576 IQGA2_HUMAN IQ motif containing GTPase activating protein 2 148 CH. small GTPase mediated signal transduction actin cytoskeleton actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149) all cancers(79;1.38e-36) ATGATATATTGCATTCACGCA 0.294000 4 49 0 0 1 0 0 ZNF324 25799 broad.mit.edu 37 19 58982998 58982998 + Missense_Mutation SNP G G A TCGA-S9-A7J1-01A-21D-A34J-08 TCGA-S9-A7J1-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62d732f2-263a-4721-966c-18984791f8f2 789b7dd2-8169-4519-839d-8f7b66213675 g.chr19:58982998G>A ENST00000536459.2 + 4 1848 c.1139G>A c.(1138-1140)cGc>cAc p.R380H ZNF324_ENST00000196482.3_Missense_Mutation_p.R380H|ZNF324_ENST00000535298.1_Missense_Mutation_p.R157H O75467 Z324A_HUMAN zinc finger protein 324 380 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2) 16 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179) CGCTTCTGCCGCAACTCGCAC 0.657000 3 25 0 0 1 0 0 MUC2 4583 broad.mit.edu 37 11 1095756 1095756 + Silent SNP G G T TCGA-S9-A7J1-01A-21D-A34J-08 TCGA-S9-A7J1-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62d732f2-263a-4721-966c-18984791f8f2 789b7dd2-8169-4519-839d-8f7b66213675 g.chr11:1095756G>T ENST00000441003.2 + 33 6294 c.6267G>T c.(6265-6267)ccG>ccT p.P2089P MUC2_ENST00000333592.6_3'UTR|MUC2_ENST00000361558.6_Silent_p.P227P NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 4451 inner mucus layer|outer mucus layer protein binding NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) GTGAGCCGCCGCCCATGCCCA 0.657000 3 20 1 1 1 1 0 APAF1 317 broad.mit.edu 37 12 99059486 99059486 + Missense_Mutation SNP A A T TCGA-S9-A7J1-01A-21D-A34J-08 TCGA-S9-A7J1-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62d732f2-263a-4721-966c-18984791f8f2 789b7dd2-8169-4519-839d-8f7b66213675 g.chr12:99059486A>T ENST00000357310.1 + 8 1688 c.1111A>T c.(1111-1113)Agt>Tgt p.S371C APAF1_ENST00000552268.1_Intron|APAF1_ENST00000547045.1_Missense_Mutation_p.S371C|APAF1_ENST00000551964.1_Missense_Mutation_p.S371C|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000550527.1_Missense_Mutation_p.S360C|APAF1_ENST00000549007.1_Missense_Mutation_p.S371C|APAF1_ENST00000339433.3_Missense_Mutation_p.S371C|APAF1_ENST00000359972.2_Missense_Mutation_p.S360C NM_181868.1 NP_863658.1 O14727 APAF_HUMAN apoptotic peptidase activating factor 1 371 NB-ARC. activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development cytosol|Golgi apparatus|nucleus ATP binding|caspase activator activity|protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1) 42 Adenosine triphosphate(DB00171) CATGTCTATAAGTGTTGAAAT 0.383000 13 39 0 0 1 0 0 PBX1 5087 broad.mit.edu 37 1 164532483 164532483 + Missense_Mutation SNP C C A TCGA-S9-A7J1-01A-21D-A34J-08 TCGA-S9-A7J1-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62d732f2-263a-4721-966c-18984791f8f2 789b7dd2-8169-4519-839d-8f7b66213675 g.chr1:164532483C>A ENST00000420696.2 + 2 388 c.200C>A c.(199-201)gCt>gAt p.A67D PBX1_ENST00000540236.1_Missense_Mutation_p.A67D|PBX1_ENST00000401534.1_Missense_Mutation_p.A67D|PBX1_ENST00000559240.1_Missense_Mutation_p.A67D|PBX1_ENST00000367897.1_Missense_Mutation_p.A67D NM_001204961.1|NM_001204963.1|NM_002585.3 NP_001191890.1|NP_001191892.1|NP_002576.1 P40424 PBX1_HUMAN pre-B-cell leukemia homeobox 1 67 negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process cytoplasm|nucleus sequence-specific DNA binding transcription factor activity|transcription factor binding EWSR1/PBX1(3) large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 4 AGAAAACATGCTTTAAACTGC 0.363000 T """TCF3, EWSR1""" """pre B-ALL, myoepithelioma""" 4 229 1 1 1 1 0 CELSR3 1951 broad.mit.edu 37 3 48696782 48696782 + Missense_Mutation SNP C C T rs144228630 TCGA-S9-A7J1-01A-21D-A34J-08 TCGA-S9-A7J1-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62d732f2-263a-4721-966c-18984791f8f2 789b7dd2-8169-4519-839d-8f7b66213675 g.chr3:48696782C>T ENST00000544264.1 - 1 3566 c.3286G>A c.(3286-3288)Gaa>Aaa p.E1096K CELSR3_ENST00000164024.4_Missense_Mutation_p.E1096K Q9NYQ7 CELR3_HUMAN cadherin, EGF LAG seven-pass G-type receptor 3 1096 Cadherin 8. homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 83 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) TTGGGGCCTTCGTCAGGGTCC 0.532000 4 96 0 0 1 0 0 CRISPLD1 83690 broad.mit.edu 37 8 75937819 75937819 + Missense_Mutation SNP A A G TCGA-S9-A7J1-01A-21D-A34J-08 TCGA-S9-A7J1-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62d732f2-263a-4721-966c-18984791f8f2 789b7dd2-8169-4519-839d-8f7b66213675 g.chr8:75937819A>G ENST00000262207.4 + 13 1751 c.1283A>G c.(1282-1284)cAt>cGt p.H428R CRISPLD1_ENST00000517786.1_Missense_Mutation_p.H242R|CRISPLD1_ENST00000523524.1_Missense_Mutation_p.H240R NM_031461.5 NP_113649.1 Q9H336 CRLD1_HUMAN cysteine-rich secretory protein LCCL domain containing 1 428 LCCL 2. extracellular region biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Breast(64;0.0799) Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161) GCAAATCCACATTATGCTCGT 0.279000 7 126 0 0 1 0 0 CLIP1 6249 broad.mit.edu 37 12 122862135 122862135 + Missense_Mutation SNP G G A TCGA-S9-A7J1-01A-21D-A34J-08 TCGA-S9-A7J1-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62d732f2-263a-4721-966c-18984791f8f2 789b7dd2-8169-4519-839d-8f7b66213675 g.chr12:122862135G>A ENST00000358808.2 - 3 612 c.458C>T c.(457-459)aCg>aTg p.T153M CLIP1_ENST00000537178.1_Missense_Mutation_p.T153M|CLIP1_ENST00000361654.4_Missense_Mutation_p.T153M|CLIP1_ENST00000302528.7_Missense_Mutation_p.T153M|CLIP1_ENST00000540338.1_Missense_Mutation_p.T153M NM_001247997.1|NM_002956.2 NP_001234926.1|NP_002947.1 P30622 CLIP1_HUMAN CAP-GLY domain containing linker protein 1 153 Ser-rich. mitotic prometaphase|positive regulation of microtubule polymerization centrosome|cytosol|endosome|intermediate filament|kinetochore nucleic acid binding|protein homodimerization activity|zinc ion binding NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226) CATGCTGGCCGTAGAAGTGCA 0.557000 4 152 0 0 1 0 0 KMT2C 58508 broad.mit.edu 37 7 151848004 151848004 + Missense_Mutation SNP G G A rs142168391 TCGA-S9-A7J1-01A-21D-A34J-08 TCGA-S9-A7J1-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62d732f2-263a-4721-966c-18984791f8f2 789b7dd2-8169-4519-839d-8f7b66213675 g.chr7:151848004G>A ENST00000355193.2 - 52 13144 c.12926C>T c.(12925-12927)gCg>gTg p.A4309V KMT2C_ENST00000262189.6_Missense_Mutation_p.A4252V lysine (K)-specific methyltransferase 2C TGAGTTTTTCGCTTGTGCAGT 0.388000 24 38 0 0 1 0 0 HYDIN 54768 broad.mit.edu 37 16 70917932 70917932 + Silent SNP G G A rs141625832 by1000genomes TCGA-S9-A7J1-01A-21D-A34J-08 TCGA-S9-A7J1-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62d732f2-263a-4721-966c-18984791f8f2 789b7dd2-8169-4519-839d-8f7b66213675 g.chr16:70917932G>A ENST00000393567.2 - 59 10020 c.9870C>T c.(9868-9870)gaC>gaT p.D3290D NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 3290 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) TTCCCATGGCGTCAGCCACAC 0.567000 7 29 0 0 1 0 0 EFNA3 1944 broad.mit.edu 37 1 155058898 155058898 + Missense_Mutation SNP A A G TCGA-S9-A7J1-01A-21D-A34J-08 TCGA-S9-A7J1-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62d732f2-263a-4721-966c-18984791f8f2 789b7dd2-8169-4519-839d-8f7b66213675 g.chr1:155058898A>G ENST00000368408.3 + 5 666 c.596A>G c.(595-597)gAg>gGg p.E199G EFNA3_ENST00000556931.1_Missense_Mutation_p.E194G|EFNA3_ENST00000505139.1_Missense_Mutation_p.E194G|EFNA3_ENST00000498667.1_3'UTR|EFNA3_ENST00000418360.2_Missense_Mutation_p.E173G NM_004952.4 NP_004943.1 P52797 EFNA3_HUMAN ephrin-A3 199 cell-cell signaling anchored to membrane|integral to plasma membrane ephrin receptor binding|transmembrane-ephrin receptor activity breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2) 5 all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) all cancers(21;5.67e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000284)|LUSC - Lung squamous cell carcinoma(543;0.193) GAAGACTTTGAGGGAGAGAAC 0.637000 OREG0013850 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 38 0 0 1 0 0 RP11-206L10.10 0 broad.mit.edu 37 1 745643 745643 + RNA DEL C C - TCGA-S9-A7J1-01A-21D-A34J-08 TCGA-S9-A7J1-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62d732f2-263a-4721-966c-18984791f8f2 789b7dd2-8169-4519-839d-8f7b66213675 g.chr1:745643delC ENST00000435300.1 - 0 340 TTCAAAGTGACAGACTGTGGG 0.299 3 3 --- --- --- --- FUBP1 8880 broad.mit.edu 37 1 78428470 78428471 + Frame_Shift_Del DEL TA TA - TCGA-S9-A7J1-01A-21D-A34J-08 TCGA-S9-A7J1-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62d732f2-263a-4721-966c-18984791f8f2 789b7dd2-8169-4519-839d-8f7b66213675 g.chr1:78428470_78428471delTA ENST00000370767.1 - 14 1415_1416 c.1328_1329delTA c.(1327-1329)afs p.I443fs FUBP1_ENST00000370768.2_Frame_Shift_Del_p.I443fs|FUBP1_ENST00000436586.2_Frame_Shift_Del_p.I464fs Q96AE4 FUBP1_HUMAN far upstream element (FUSE) binding protein 1 443 KH 4. transcription from RNA polymerase II promoter nucleus protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3) 17 TCTTTTCTTCTATGAGTTGCCG 0.337 """F, N""" oligodendroglioma 37 35 --- --- --- --- GREB1 9687 broad.mit.edu 37 2 11778832 11778833 + Frame_Shift_Del DEL TT TT - TCGA-S9-A7J1-01A-21D-A34J-08 TCGA-S9-A7J1-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62d732f2-263a-4721-966c-18984791f8f2 789b7dd2-8169-4519-839d-8f7b66213675 g.chr2:11778832_11778833delTT ENST00000381486.2 + 32 5883_5884 c.5583_5584delTT c.(5581-5586)tctafs p.SL1861fs GREB1_ENST00000396123.1_Frame_Shift_Del_p.SL859fs|GREB1_ENST00000234142.5_Frame_Shift_Del_p.SL1861fs NM_014668.3 NP_055483.2 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 1861 integral to membrane breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1) 30 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) GGCCCCACTCTTTAAACATCAG 0.426 16 72 --- --- --- --- ASXL2 55252 broad.mit.edu 37 2 25973090 25973094 + Frame_Shift_Del DEL TTCTT TTCTT - TCGA-S9-A7J1-01A-21D-A34J-08 TCGA-S9-A7J1-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62d732f2-263a-4721-966c-18984791f8f2 789b7dd2-8169-4519-839d-8f7b66213675 g.chr2:25973090_25973094delTTCTT ENST00000435504.4 - 12 1624_1628 c.1331_1335delAAGAA c.(1330-1335)afs p.KE444fs ASXL2_ENST00000272341.4_Frame_Shift_Del_p.KE184fs|ASXL2_ENST00000336112.4_Frame_Shift_Del_p.KE416fs|ASXL2_ENST00000404843.1_Frame_Shift_Del_p.KE184fs Q76L83 ASXL2_HUMAN additional sex combs like 2 (Drosophila) 444 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3) 33 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TTTCACACTCTTCTTTTCTGCCTGG 0.473 10 408 --- --- --- --- PIK3CA 5290 broad.mit.edu 37 3 178928078 178928080 + In_Frame_Del DEL AGA AGA - TCGA-S9-A7J1-01A-21D-A34J-08 TCGA-S9-A7J1-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62d732f2-263a-4721-966c-18984791f8f2 789b7dd2-8169-4519-839d-8f7b66213675 g.chr3:178928078_178928080delAGA ENST00000263967.3 + 8 1513_1515 c.1356_1358delAGA c.(1354-1359)tta>tt p.LE452del NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 452 C2 PI3K-type. epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E453K(11)|p.E453Q(5)|p.H450fs*9(1)|p.E453A(1)|p.P449_L455del(1)|p.G451_L456>V(1) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) CTCATGGATTAGAAGATTTGCTG 0.350 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 17 144 --- --- --- --- CTD-2324F15.2 0 broad.mit.edu 37 5 6337066 6337067 + RNA DEL AC AC - TCGA-S9-A7J1-01A-21D-A34J-08 TCGA-S9-A7J1-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62d732f2-263a-4721-966c-18984791f8f2 789b7dd2-8169-4519-839d-8f7b66213675 g.chr5:6337066_6337067delAC ENST00000507444.1 - 0 143 NR_028351.1 acacatacatacacacacacac 0.475 2 4 --- --- --- --- AC022762.1 0 broad.mit.edu 37 11 6173545 6173545 + Frame_Shift_Del DEL C C - TCGA-S9-A7J1-01A-21D-A34J-08 TCGA-S9-A7J1-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62d732f2-263a-4721-966c-18984791f8f2 789b7dd2-8169-4519-839d-8f7b66213675 g.chr11:6173545delC ENST00000316506.1 - 1 273 c.274delG c.(274-276)ccfs p.A92fs RP11-290F24.3_ENST00000529961.1_RNA ATCGCCAAGGCCTTAGGCACA 0.512 2 4 --- --- --- --- RP11-35J10.5 0 broad.mit.edu 37 11 7794594 7794594 + RNA DEL T T - TCGA-S9-A7J1-01A-21D-A34J-08 TCGA-S9-A7J1-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62d732f2-263a-4721-966c-18984791f8f2 789b7dd2-8169-4519-839d-8f7b66213675 g.chr11:7794594delT ENST00000527565.1 - 0 542 GGGCATCACATAAATGAAGGT 0.502 2 4 --- --- --- --- SLC26A10 65012 broad.mit.edu 37 12 58018904 58018906 + Splice_Site DEL AGG AGG - TCGA-S9-A7J1-01A-21D-A34J-08 TCGA-S9-A7J1-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62d732f2-263a-4721-966c-18984791f8f2 789b7dd2-8169-4519-839d-8f7b66213675 g.chr12:58018904_58018906delAGG ENST00000320442.4 + 11 1655_1656 c.1344_splice c.e11-1 p.K448_splice SLC26A10_ENST00000490243.1_3'UTR|SLC26A10_ENST00000379218.2_3'UTR NM_133489.2 NP_597996.2 Q8NG04 S2610_HUMAN solute carrier family 26, member 10 448 STAS. integral to membrane antiporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7) 19 Melanoma(17;0.122) CTTTACTTATAGGAGACTTCAAA 0.532 68 199 --- --- --- --- IL32 9235 broad.mit.edu 37 16 3119304 3119305 + Frame_Shift_Ins INS - - G rs2981599 TCGA-S9-A7J1-01A-21D-A34J-08 TCGA-S9-A7J1-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62d732f2-263a-4721-966c-18984791f8f2 789b7dd2-8169-4519-839d-8f7b66213675 g.chr16:3119304_3119305insG ENST00000525643.2 + 7 847_848 c.515_516insG c.(514-516)gaafs p.E172fs IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs P24001 IL32_HUMAN interleukin 32 218 cell adhesion|defense response|immune response extracellular space cytokine activity breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 15 CCACGGGGGGACAAGGAGGAGC 0.574 18 218 --- --- --- --- CIC 23152 broad.mit.edu 37 19 42797980 42797981 + Frame_Shift_Del DEL TG TG - TCGA-S9-A7J1-01A-21D-A34J-08 TCGA-S9-A7J1-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62d732f2-263a-4721-966c-18984791f8f2 789b7dd2-8169-4519-839d-8f7b66213675 g.chr19:42797980_42797981delTG ENST00000572681.2 + 17 6821_6822 c.6753_6754delTG c.(6751-6756)tctgfs p.SV2251fs CIC_ENST00000160740.3_Frame_Shift_Del_p.SV1342fs|CIC_ENST00000575354.2_Frame_Shift_Del_p.SV1344fs Q96RK0 CIC_HUMAN capicua transcriptional repressor 1344 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) CCTTTGACTCTGTGGACAAGTG 0.693 """Mis, F, S""" oligodendroglioma 18 68 --- --- --- --- PNMAL2 57469 broad.mit.edu 37 19 46997016 46997017 + In_Frame_Ins INS - - CGGCCT rs147338403 by1000genomes TCGA-S9-A7J1-01A-21D-A34J-08 TCGA-S9-A7J1-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62d732f2-263a-4721-966c-18984791f8f2 789b7dd2-8169-4519-839d-8f7b66213675 g.chr19:46997016_46997017insCGGCCT ENST00000599531.1 - 1 2738_2739 c.1706_1707insAGGCCG c.(1705-1707)cgg>cAGGCCGgg p.569_569R>QAG PNMAL2_ENST00000594749.1_Intron|PNMAL2_ENST00000377655.2_Intron NM_020709.1 NP_065760.1 Q9ULN7 PNML2_HUMAN paraneoplastic Ma antigen family-like 2 571 central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4) 8 Ovarian(192;0.00965)|all_neural(266;0.0459) OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427) GAGTGACGCCCCGGCCTCGGCC 0.777 7 3 --- --- --- ---