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 CBFA2T2 9139 broad.mit.edu 37 20 32199070 32199070 + Missense_Mutation SNP C C G TCGA-DJ-A2PT-01A-11D-A18F-08 TCGA-DJ-A2PT-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e2a898-3fc0-4fc6-9ac8-36a2508d60f4 1a164574-d0ea-4e7d-b658-7dfd876c02e9 g.chr20:32199070C>G ENST00000346541.3 + 4 913 c.376C>G c.(376-378)Ctg>Gtg p.L126V CBFA2T2_ENST00000344201.3_Missense_Mutation_p.L97V|CBFA2T2_ENST00000397800.1_Missense_Mutation_p.L97V|CBFA2T2_ENST00000375279.2_Missense_Mutation_p.L126V|CBFA2T2_ENST00000359606.3_Missense_Mutation_p.L136V|CBFA2T2_ENST00000342704.5_Missense_Mutation_p.L117V|CBFA2T2_ENST00000397798.2_Missense_Mutation_p.L97V NM_005093.3 NP_005084.1 O43439 MTG8R_HUMAN core-binding factor, runt domain, alpha subunit 2; translocated to, 2 126 TAFH. nucleus protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2) 20 TCTTACCACTCTGCAACAGTT 0.507000 29 112 0 0 0.008361 0 0 FRG1B 0 broad.mit.edu 37 20 29628251 29628251 + Missense_Mutation SNP A A G TCGA-DJ-A2PT-01A-11D-A18F-08 TCGA-DJ-A2PT-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e2a898-3fc0-4fc6-9ac8-36a2508d60f4 1a164574-d0ea-4e7d-b658-7dfd876c02e9 g.chr20:29628251A>G ENST00000278882.3 + 6 633 c.253A>G c.(253-255)Aat>Gat p.N85D FRG1B_ENST00000439954.2_Missense_Mutation_p.N90D|FRG1B_ENST00000358464.4_Missense_Mutation_p.N85D p.N85D(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTTGGCCTCAAATAGCTGCTT 0.358000 8 102 0 0 0.010729 0 0 AGAP10 728127 broad.mit.edu 37 10 47207813 47207813 + Splice_Site SNP T T C TCGA-DJ-A2PT-01A-11D-A18F-08 TCGA-DJ-A2PT-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e2a898-3fc0-4fc6-9ac8-36a2508d60f4 1a164574-d0ea-4e7d-b658-7dfd876c02e9 g.chr10:47207813T>C ENST00000355232.3 - 5 3482 c.471_splice c.e5+1 p.H157_splice RP11-144G6.12_ENST00000605970.1_RNA|AGAP10_ENST00000413193.2_Splice_Site_p.H228_splice|AGAP10_ENST00000452145.2_Splice_Site_p.H132_splice ArfGAP with GTPase domain, ankyrin repeat and PH domain 10 p.H228R(20) endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1) 12 TTTACTTACATGGTTTGTACA 0.294000 8 27 0 0 0.004482 0 0 RP11-1166P10.6 0 broad.mit.edu 37 16 32070612 32070612 + RNA SNP A A C TCGA-DJ-A2PT-01A-11D-A18F-08 TCGA-DJ-A2PT-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e2a898-3fc0-4fc6-9ac8-36a2508d60f4 1a164574-d0ea-4e7d-b658-7dfd876c02e9 g.chr16:32070612A>C ENST00000566806.1 - 0 499 GGTCTCCTGCAAGGCTTCTGG 0.552000 5 89 0 0 0.001984 0 0 TPRG1 285386 broad.mit.edu 37 3 189028237 189028237 + Missense_Mutation SNP G G A TCGA-DJ-A2PT-01A-11D-A18F-08 TCGA-DJ-A2PT-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e2a898-3fc0-4fc6-9ac8-36a2508d60f4 1a164574-d0ea-4e7d-b658-7dfd876c02e9 g.chr3:189028237G>A ENST00000345063.3 + 5 709 c.542G>A c.(541-543)cGc>cAc p.R181H TPRG1_ENST00000433971.1_Missense_Mutation_p.R181H NM_198485.3 NP_940887.1 Q6ZUI0 TPRG1_HUMAN tumor protein p63 regulated 1 181 endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|skin(2)|urinary_tract(1) 16 all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925) all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255) Lung(62;6.93e-06) GBM - Glioblastoma multiforme(93;4.77e-14) CTTCTGTCCCGCTGGAACCCA 0.473000 4 60 0 0 0.009096 0 0 RANBP2 5903 broad.mit.edu 37 2 109365442 109365442 + Missense_Mutation SNP C C T TCGA-DJ-A2PT-01A-11D-A18F-08 TCGA-DJ-A2PT-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e2a898-3fc0-4fc6-9ac8-36a2508d60f4 1a164574-d0ea-4e7d-b658-7dfd876c02e9 g.chr2:109365442C>T ENST00000283195.6 + 9 1256 c.1130C>T c.(1129-1131)gCc>gTc p.A377V NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 377 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 GAAACTTTTGCCAACAAAAGC 0.348000 5 290 0 0 0.001168 0 0 TRMT6 51605 broad.mit.edu 37 20 5923212 5923212 + Silent SNP C C T TCGA-DJ-A2PT-01A-11D-A18F-08 TCGA-DJ-A2PT-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e2a898-3fc0-4fc6-9ac8-36a2508d60f4 1a164574-d0ea-4e7d-b658-7dfd876c02e9 g.chr20:5923212C>T ENST00000203001.2 - 7 1018 c.888G>A c.(886-888)caG>caA p.Q296Q TRMT6_ENST00000473131.1_5'UTR|TRMT6_ENST00000453074.2_Silent_p.Q126Q NM_015939.3 NP_057023.2 Q9UJA5 TRM6_HUMAN tRNA methyltransferase 6 homolog (S. cerevisiae) 296 regulation of translational initiation|tRNA processing nucleus protein binding|translation initiation factor activity breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1) 15 GTTCAGAAGCCTGTTTTTCCT 0.443000 15 50 0 0 0.003163 0 0 NCK1 4690 broad.mit.edu 37 3 136647064 136647064 + Missense_Mutation SNP C C T TCGA-DJ-A2PT-01A-11D-A18F-08 TCGA-DJ-A2PT-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e2a898-3fc0-4fc6-9ac8-36a2508d60f4 1a164574-d0ea-4e7d-b658-7dfd876c02e9 g.chr3:136647064C>T ENST00000481752.1 + 2 385 c.221C>T c.(220-222)aCc>aTc p.T74I NCK1_ENST00000288986.2_Missense_Mutation_p.T74I P16333 NCK1_HUMAN NCK adaptor protein 1 74 axon guidance|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of translation|signal complex assembly|T cell activation|T cell receptor signaling pathway cytosol|endoplasmic reticulum|nucleus cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 13 CTAAAGGATACCTTAGGTAAG 0.333000 11 23 0 0 0.008291 0 0 TIAM2 26230 broad.mit.edu 37 6 155569232 155569232 + Missense_Mutation SNP A A G TCGA-DJ-A2PT-01A-11D-A18F-08 TCGA-DJ-A2PT-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e2a898-3fc0-4fc6-9ac8-36a2508d60f4 1a164574-d0ea-4e7d-b658-7dfd876c02e9 g.chr6:155569232A>G ENST00000461783.3 + 22 5024 c.3751A>G c.(3751-3753)Aga>Gga p.R1251G TIAM2_ENST00000528391.2_Missense_Mutation_p.R587G|TIAM2_ENST00000360366.4_Missense_Mutation_p.R1275G|TIAM2_ENST00000456144.1_Missense_Mutation_p.R1251G|TIAM2_ENST00000275246.7_Missense_Mutation_p.R176G|TIAM2_ENST00000529824.2_Missense_Mutation_p.R1251G|TIAM2_ENST00000318981.5_Missense_Mutation_p.R1251G|TIAM2_ENST00000367174.2_Missense_Mutation_p.R627G|TIAM2_ENST00000456877.2_Missense_Mutation_p.R563G Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 1251 DH. apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 65 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) GCCGGTTCAGAGAGTGCTCAA 0.607000 OREG0017745 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 65 0 0 0.004672 0 0 MLLT3 4300 broad.mit.edu 37 9 20414343 20414343 + Silent SNP A A G TCGA-DJ-A2PT-01A-11D-A18F-08 TCGA-DJ-A2PT-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e2a898-3fc0-4fc6-9ac8-36a2508d60f4 1a164574-d0ea-4e7d-b658-7dfd876c02e9 g.chr9:20414343A>G ENST00000380338.4 - 5 787 c.501T>C c.(499-501)agT>agC p.S167S MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 167 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S167S(19) 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) tgctgctgctactgctgctgc 0.532000 T MLL ALL 4 55 0 0 0.009096 0 0 PAOX 196743 broad.mit.edu 37 10 135202535 135202535 + Missense_Mutation SNP A A G TCGA-DJ-A2PT-01A-11D-A18F-08 TCGA-DJ-A2PT-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e2a898-3fc0-4fc6-9ac8-36a2508d60f4 1a164574-d0ea-4e7d-b658-7dfd876c02e9 g.chr10:135202535A>G ENST00000480071.2 + 4 974 c.944A>G c.(943-945)tAc>tGc p.Y315C PAOX_ENST00000278060.5_Silent_p.V399V|PAOX_ENST00000368535.2_3'UTR|PAOX_ENST00000357296.3_Silent_p.V399V|PAOX_ENST00000368539.4_3'UTR NM_207127.1 NP_997010.1 Q6QHF9 PAOX_HUMAN polyamine oxidase (exo-N4-amino) 0 polyamine biosynthetic process|xenobiotic metabolic process peroxisomal matrix polyamine oxidase activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2) 23 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06) ATGAAGAAGTACTTCTGTGTC 0.527000 7 218 0 0 0.001984 0 0 HMGB3 3149 broad.mit.edu 37 X 150156360 150156360 + Silent SNP G G A TCGA-DJ-A2PT-01A-11D-A18F-08 TCGA-DJ-A2PT-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e2a898-3fc0-4fc6-9ac8-36a2508d60f4 1a164574-d0ea-4e7d-b658-7dfd876c02e9 g.chrX:150156360G>A ENST00000325307.7 + 5 672 c.576G>A c.(574-576)gaG>gaA p.E192E HMGB3_ENST00000448905.2_Silent_p.E192E NM_005342.2 NP_005333.2 O15347 HMGB3_HUMAN high mobility group box 3 192 Asp/Glu-rich (acidic). DNA recombination|multicellular organismal development chromosome|nucleus DNA bending activity|double-stranded DNA binding p.E192E(1) endometrium(3)|large_intestine(2)|lung(2)|skin(1) 8 Acute lymphoblastic leukemia(192;6.56e-05) aggaagaagaggaggaggagg 0.443000 3 63 0 0 0.004672 0 0 PCDHA10 0 broad.mit.edu 37 5 140237799 140237799 + Silent SNP G G A TCGA-DJ-A2PT-01A-11D-A18F-08 TCGA-DJ-A2PT-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e2a898-3fc0-4fc6-9ac8-36a2508d60f4 1a164574-d0ea-4e7d-b658-7dfd876c02e9 g.chr5:140237799G>A ENST00000307360.5 + 1 2166 c.2166G>A c.(2164-2166)tcG>tcA p.S722S PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron NM_018901.2|NM_031859.1 NP_061724.1|NP_114065.1 NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 79 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGAGGTGCTCGGCGGCGCCCA 0.662000 15 27 0 0 0.002450 0 0 GPM6B 2824 broad.mit.edu 37 X 13798077 13798077 + Missense_Mutation SNP G G C TCGA-DJ-A2PT-01A-11D-A18F-08 TCGA-DJ-A2PT-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e2a898-3fc0-4fc6-9ac8-36a2508d60f4 1a164574-d0ea-4e7d-b658-7dfd876c02e9 g.chrX:13798077G>C ENST00000454189.2 - 4 507 c.380C>G c.(379-381)gCc>gGc p.A127G GPM6B_ENST00000398361.3_Missense_Mutation_p.A60G|GPM6B_ENST00000316715.4_Missense_Mutation_p.A186G|GPM6B_ENST00000356942.5_Missense_Mutation_p.A146G|GPM6B_ENST00000493677.1_Missense_Mutation_p.A160G|GPM6B_ENST00000355135.2_Missense_Mutation_p.A186G NM_001001994.1 NP_001001994.1 Q13491 GPM6B_HUMAN glycoprotein M6B 146 cell differentiation|nervous system development integral to membrane central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|pancreas(1) 6 ACCCAGCCAGGCCACTCCAAG 0.493000 9 92 0 0 0.006214 0 0 TBC1D7 51256 broad.mit.edu 37 6 13307947 13307947 + Nonsense_Mutation SNP C C A TCGA-DJ-A2PT-01A-11D-A18F-08 TCGA-DJ-A2PT-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e2a898-3fc0-4fc6-9ac8-36a2508d60f4 1a164574-d0ea-4e7d-b658-7dfd876c02e9 g.chr6:13307947C>A ENST00000607658.1 - 5 619 c.469G>T c.(469-471)Gaa>Taa p.E157* TBC1D7_ENST00000343141.4_Nonsense_Mutation_p.E138*|TBC1D7_ENST00000379307.2_Nonsense_Mutation_p.E157*|TBC1D7_ENST00000356436.4_Nonsense_Mutation_p.E184*|TBC1D7_ENST00000379300.3_Nonsense_Mutation_p.E184*|TBC1D7_ENST00000607532.1_5'UTR Q9P0N9 TBCD7_HUMAN TBC1 domain family, member 7 184 Rab-GAP TBC. positive regulation of protein ubiquitination cytoplasmic membrane-bounded vesicle protein binding|Rab GTPase activator activity breast(1)|endometrium(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1) 22 Breast(50;0.0296)|Ovarian(93;0.0339) all_hematologic(90;0.135) Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21) CTGCCATCTTCCAGATTCAAG 0.423000 15 54 1.15088e-07 1.96075e-07 0.004007 1 0 CDCA3 83461 broad.mit.edu 37 12 6960070 6960070 + Missense_Mutation SNP G G A TCGA-DJ-A2PT-01A-11D-A18F-08 TCGA-DJ-A2PT-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e2a898-3fc0-4fc6-9ac8-36a2508d60f4 1a164574-d0ea-4e7d-b658-7dfd876c02e9 g.chr12:6960070G>A ENST00000422785.3 - 2 151 c.47C>T c.(46-48)cCg>cTg p.P16L CDCA3_ENST00000535406.1_Missense_Mutation_p.P16L|CDCA3_ENST00000540683.1_Missense_Mutation_p.P16L|CDCA3_ENST00000229265.6_Missense_Mutation_p.P16L|CDCA3_ENST00000538862.2_Missense_Mutation_p.P16L Q99618 CDCA3_HUMAN cell division cycle associated 3 16 cell division|mitosis cytosol breast(1)|endometrium(1)|large_intestine(4)|lung(1)|stomach(1) 8 CTTGTTGTGCGGCGGAGGCCG 0.662000 3 37 0 0 0.009096 0 0 FBN1 2200 broad.mit.edu 37 15 48704920 48704920 + Missense_Mutation SNP C C T TCGA-DJ-A2PT-01A-11D-A18F-08 TCGA-DJ-A2PT-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e2a898-3fc0-4fc6-9ac8-36a2508d60f4 1a164574-d0ea-4e7d-b658-7dfd876c02e9 g.chr15:48704920C>T ENST00000316623.5 - 65 8527 c.8072G>A c.(8071-8073)gGc>gAc p.G2691D FBN1_ENST00000561429.1_5'UTR NM_000138.4 NP_000129.3 P35555 FBN1_HUMAN fibrillin 1 2691 heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 139 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) TCGGCCCATGCCCATTCCAGA 0.502000 4 184 0 0 0.009096 0 0 B3GAT1 27087 broad.mit.edu 37 11 134252734 134252734 + Missense_Mutation SNP C C T TCGA-DJ-A2PT-01A-11D-A18F-08 TCGA-DJ-A2PT-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e2a898-3fc0-4fc6-9ac8-36a2508d60f4 1a164574-d0ea-4e7d-b658-7dfd876c02e9 g.chr11:134252734C>T ENST00000524765.1 - 4 5332 c.788G>A c.(787-789)cGg>cAg p.R263Q B3GAT1_ENST00000312527.4_Missense_Mutation_p.R263Q|B3GAT1_ENST00000537389.1_Missense_Mutation_p.R276Q|B3GAT1_ENST00000392580.1_Missense_Mutation_p.R263Q Q9P2W7 B3GA1_HUMAN beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P) 263 carbohydrate metabolic process Golgi membrane|integral to membrane galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 19 all_hematologic(175;0.127) all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559) Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864) CAGAATGAGCCGCAGGTTGAC 0.592000 12 37 0 0 0.013537 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-DJ-A2PT-01A-11D-A18F-08 TCGA-DJ-A2PT-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e2a898-3fc0-4fc6-9ac8-36a2508d60f4 1a164574-d0ea-4e7d-b658-7dfd876c02e9 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 23 54 0 0 0.002780 0 0 APAF1 317 broad.mit.edu 37 12 99042229 99042229 + Missense_Mutation SNP G G A TCGA-DJ-A2PT-01A-11D-A18F-08 TCGA-DJ-A2PT-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e2a898-3fc0-4fc6-9ac8-36a2508d60f4 1a164574-d0ea-4e7d-b658-7dfd876c02e9 g.chr12:99042229G>A ENST00000357310.1 + 2 669 c.92G>A c.(91-93)aGt>aAt p.S31N APAF1_ENST00000552268.1_Missense_Mutation_p.S31N|APAF1_ENST00000547743.1_Missense_Mutation_p.S31N|APAF1_ENST00000550527.1_Missense_Mutation_p.S31N|APAF1_ENST00000549007.1_Missense_Mutation_p.S31N|APAF1_ENST00000551964.1_Missense_Mutation_p.S31N|APAF1_ENST00000547045.1_Missense_Mutation_p.S31N|APAF1_ENST00000333991.1_Missense_Mutation_p.S31N|APAF1_ENST00000359972.2_Missense_Mutation_p.S31N|APAF1_ENST00000339433.3_Missense_Mutation_p.S31N NM_181868.1 NP_863658.1 O14727 APAF_HUMAN apoptotic peptidase activating factor 1 31 CARD. 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) CACATGATTAGTGATGGATTT 0.358000 4 136 0 0 0.009096 0 0 C15orf52 388115 broad.mit.edu 37 15 40627436 40627436 + Nonsense_Mutation SNP C C A TCGA-DJ-A2PT-01A-11D-A18F-08 TCGA-DJ-A2PT-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e2a898-3fc0-4fc6-9ac8-36a2508d60f4 1a164574-d0ea-4e7d-b658-7dfd876c02e9 g.chr15:40627436C>A ENST00000397536.2 - 7 933 c.898G>T c.(898-900)Gga>Tga p.G300* C15orf52_ENST00000559313.1_Nonsense_Mutation_p.G510* Q6ZUT6 CO052_HUMAN chromosome 15 open reading frame 52 510 central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1) 19 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841) TGGCTGCCTCCTCTCGTGGGC 0.682000 6 175 3.59834e-05 5.91155e-05 0.001168 1 0 TRPM4 54795 broad.mit.edu 37 19 49684617 49684617 + Missense_Mutation SNP T T C TCGA-DJ-A2PT-01A-11D-A18F-08 TCGA-DJ-A2PT-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e2a898-3fc0-4fc6-9ac8-36a2508d60f4 1a164574-d0ea-4e7d-b658-7dfd876c02e9 g.chr19:49684617T>C ENST00000252826.5 + 10 1288 c.1162T>C c.(1162-1164)Tcg>Ccg p.S388P TRPM4_ENST00000601347.1_Intron|TRPM4_ENST00000427978.2_Missense_Mutation_p.S388P|TRPM4_ENST00000355712.5_Intron NM_017636.3 NP_060106.2 Q8TD43 TRPM4_HUMAN transient receptor potential cation channel, subfamily M, member 4 388 dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane ATP binding|calcium activated cation channel activity|calmodulin binding breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 49 all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15) all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751) CTGTGGGAGCTCGGAGGCCTC 0.557000 3 99 0 0 0.004672 0 0 GPRIN3 285513 broad.mit.edu 37 4 90170054 90170054 + Missense_Mutation SNP G G T TCGA-DJ-A2PT-01A-11D-A18F-08 TCGA-DJ-A2PT-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e2a898-3fc0-4fc6-9ac8-36a2508d60f4 1a164574-d0ea-4e7d-b658-7dfd876c02e9 g.chr4:90170054G>T ENST00000333209.3 - 2 1726 c.1208C>A c.(1207-1209)gCt>gAt p.A403D NM_198281.2 NP_938022.2 Q6ZVF9 GRIN3_HUMAN GPRIN family member 3 403 breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1) 36 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;5.67e-05) CCGTTGGAAAGCTGTAGACTC 0.532000 7 127 0.00198382 0.00314675 0.001984 1 0 PRDM8 56978 broad.mit.edu 37 4 81124216 81124216 + Missense_Mutation SNP C C T TCGA-DJ-A2PT-01A-11D-A18F-08 TCGA-DJ-A2PT-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e2a898-3fc0-4fc6-9ac8-36a2508d60f4 1a164574-d0ea-4e7d-b658-7dfd876c02e9 g.chr4:81124216C>T ENST00000339711.4 + 10 2831 c.1600C>T c.(1600-1602)Ccc>Tcc p.P534S PRDM8_ENST00000415738.2_Missense_Mutation_p.P534S|PRDM8_ENST00000504452.1_Missense_Mutation_p.P534S NM_020226.3 NP_064611.3 Q9NQV8 PRDM8_HUMAN PR domain containing 8 534 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2) 10 CGGCGTGGGCCCCACCAGACT 0.731000 6 6 0 0 0.003080 0 0 RP11-206L10.2 0 broad.mit.edu 37 1 700532 700532 + RNA DEL T T - TCGA-DJ-A2PT-01A-11D-A18F-08 TCGA-DJ-A2PT-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e2a898-3fc0-4fc6-9ac8-36a2508d60f4 1a164574-d0ea-4e7d-b658-7dfd876c02e9 g.chr1:700532delT ENST00000428504.1 - 0 1021 NR_033908.1 aaaaaaaaaaTTCCTTTGGGA 0.453 2 4 --- --- --- --- RELN 5649 broad.mit.edu 37 7 103629803 103629804 + Translation_Start_Site INS - - GCCGCC TCGA-DJ-A2PT-01A-11D-A18F-08 TCGA-DJ-A2PT-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e2a898-3fc0-4fc6-9ac8-36a2508d60f4 1a164574-d0ea-4e7d-b658-7dfd876c02e9 g.chr7:103629803_103629804insGCCGCC ENST00000424685.2 - 0 159_160 RELN_ENST00000343529.5_Start_Codon_Ins|RELN_ENST00000428762.1_Start_Codon_Ins P78509 RELN_HUMAN reelin axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) CTGCGCTCCATgccgccgccgc 0.723 3 5 --- --- --- --- IL32 9235 broad.mit.edu 37 16 3119304 3119305 + Frame_Shift_Ins INS - - G rs2981599 TCGA-DJ-A2PT-01A-11D-A18F-08 TCGA-DJ-A2PT-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e2a898-3fc0-4fc6-9ac8-36a2508d60f4 1a164574-d0ea-4e7d-b658-7dfd876c02e9 g.chr16:3119304_3119305insG ENST00000525643.2 + 7 847_848 c.515_516insG c.(514-516)gaafs p.E172fs IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs 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 14 247 --- --- --- ---