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 BRWD3 254065 broad.mit.edu 37 X 79999587 79999587 + Missense_Mutation SNP T T C TCGA-W2-A7HA-01B-11D-A35I-08 TCGA-W2-A7HA-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128bdc90-ed54-4b8e-bfcb-b8577370c799 89e66736-c853-4d3c-b607-ac112afd81a6 g.chrX:79999587T>C ENST00000373275.4 - 8 973 c.757A>G c.(757-759)Act>Gct p.T253A NM_153252.4 NP_694984.4 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 253 breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3) 87 GGTGCACAAGTTCGAAGACAC 0.403000 15 9 0 0 1 0 0 RWDD4 201965 broad.mit.edu 37 4 184572391 184572391 + Silent SNP G G A TCGA-W2-A7HA-01B-11D-A35I-08 TCGA-W2-A7HA-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128bdc90-ed54-4b8e-bfcb-b8577370c799 89e66736-c853-4d3c-b607-ac112afd81a6 g.chr4:184572391G>A ENST00000326397.5 - 3 467 c.195C>T c.(193-195)aaC>aaT p.N65N RWDD4_ENST00000512740.1_Silent_p.N2N|RWDD4_ENST00000327570.9_Silent_p.N65N|RWDD4_ENST00000510968.1_Intron NM_152682.2 NP_689895.2 Q6NW29 RWDD4_HUMAN RWD domain containing 4 65 RWD. large_intestine(2)|lung(4)|ovary(1)|prostate(1) 8 TAAAAAAAGCGTTCATAGATA 0.368000 36 49 0 0 1 0 0 RET 5979 broad.mit.edu 37 10 43609939 43609939 + Missense_Mutation SNP G G T TCGA-W2-A7HA-01B-11D-A35I-08 TCGA-W2-A7HA-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128bdc90-ed54-4b8e-bfcb-b8577370c799 89e66736-c853-4d3c-b607-ac112afd81a6 g.chr10:43609939G>T ENST00000355710.3 + 11 2123 c.1891G>T c.(1891-1893)Gac>Tac p.D631Y RET_ENST00000340058.5_Missense_Mutation_p.D631Y NM_020975.4 NP_066124.1 P07949 RET_HUMAN ret proto-oncogene 631 D -> G (in thyroid carcinoma; somatic mutation). homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development integral to membrane ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity p.L629_D631>H(2)|p.D627_L633>E(1) CCDC6/RET(4)|KIF5B/RET(79) NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1) 607 Ovarian(717;0.0423) Sunitinib(DB01268) TCCACTGTGCGACGAGCTGTG 0.622000 1 """T, Mis, N, F""" """H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6""" """medullary thyroid, papillary thyroid, pheochromocytoma, NSCLC""" """medullary thyroid, papillary thyroid, pheochromocytoma""" Hirschsprung disease Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma 17 24 2.37509e-13 2.42787e-13 1 1 0 HMGB3 3149 broad.mit.edu 37 X 150156360 150156360 + Silent SNP G G A TCGA-W2-A7HA-01B-11D-A35I-08 TCGA-W2-A7HA-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128bdc90-ed54-4b8e-bfcb-b8577370c799 89e66736-c853-4d3c-b607-ac112afd81a6 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 65 0 0 1 0 0 ADCY10 55811 broad.mit.edu 37 1 167794084 167794084 + Missense_Mutation SNP C C T rs139094168 TCGA-W2-A7HA-01B-11D-A35I-08 TCGA-W2-A7HA-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128bdc90-ed54-4b8e-bfcb-b8577370c799 89e66736-c853-4d3c-b607-ac112afd81a6 g.chr1:167794084C>T ENST00000367848.1 - 27 3981 c.3484G>A c.(3484-3486)Gct>Act p.A1162T ADCY10_ENST00000485964.1_5'UTR|ADCY10_ENST00000367851.4_Missense_Mutation_p.A1254T|ADCY10_ENST00000545172.1_Missense_Mutation_p.A1101T Q96PN6 ADCYA_HUMAN adenylate cyclase 10 (soluble) 1254 intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction adenylate cyclase activity|ATP binding|magnesium ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1) 63 TCTAGGTAAGCCTTAATGATC 0.463000 25 52 0 0 1 0 0 MMP2 4313 broad.mit.edu 37 16 55527178 55527178 + Missense_Mutation SNP G G A TCGA-W2-A7HA-01B-11D-A35I-08 TCGA-W2-A7HA-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128bdc90-ed54-4b8e-bfcb-b8577370c799 89e66736-c853-4d3c-b607-ac112afd81a6 g.chr16:55527178G>A ENST00000219070.4 + 9 1954 c.1445G>A c.(1444-1446)cGt>cAt p.R482H MMP2_ENST00000570308.1_Missense_Mutation_p.R406H|MMP2_ENST00000543485.1_Missense_Mutation_p.R406H|MMP2_ENST00000437642.2_Missense_Mutation_p.R432H NM_004530.4 NP_004521.1 P08253 MMP2_HUMAN matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) 482 Hemopexin-like 1.|Required for inhibitor TIMP2 binding. angiogenesis|collagen catabolic process|proteolysis extracellular space|membrane|nucleus|proteinaceous extracellular matrix metalloendopeptidase activity|protein binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 58 Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189) UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786) Marimastat(DB00786)|Sulindac(DB00605) GCTCAGATCCGTGGTGAGATC 0.532000 48 105 0 0 1 0 0 CARD18 59082 broad.mit.edu 37 11 105009793 105009793 + Missense_Mutation SNP C C T TCGA-W2-A7HA-01B-11D-A35I-08 TCGA-W2-A7HA-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128bdc90-ed54-4b8e-bfcb-b8577370c799 89e66736-c853-4d3c-b607-ac112afd81a6 g.chr11:105009793C>T ENST00000530950.1 - 2 19 c.20G>A c.(19-21)cGt>cAt p.R7H CARD18_ENST00000532895.1_5'UTR|CARD18_ENST00000526823.1_5'UTR NM_021571.3 NP_067546.1 P57730 CAR18_HUMAN caspase recruitment domain family, member 18 7 CARD. inflammatory response|regulation of apoptosis intracellular cysteine-type endopeptidase inhibitor activity central_nervous_system(1)|ovary(1) 2 TCTCTTTTTACGCAAGAGTTG 0.378000 6 55 0 0 1 0 0 WNT3 7473 broad.mit.edu 37 17 44847186 44847186 + Missense_Mutation SNP G G A TCGA-W2-A7HA-01B-11D-A35I-08 TCGA-W2-A7HA-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128bdc90-ed54-4b8e-bfcb-b8577370c799 89e66736-c853-4d3c-b607-ac112afd81a6 g.chr17:44847186G>A ENST00000225512.5 - 3 713 c.551C>T c.(550-552)tCg>tTg p.S184L NM_030753.4 NP_110380.1 P56703 WNT3_HUMAN wingless-type MMTV integration site family, member 3 184 canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|cellular response to retinoic acid|dorsal/ventral axis specification|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic pattern specification|head morphogenesis|hemopoietic stem cell proliferation|inner ear morphogenesis|limb bud formation|mammary gland epithelium development|mesoderm formation|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|positive regulation of cell proliferation|Spemann organizer formation at the anterior end of the primitive streak|Wnt receptor signaling pathway, calcium modulating pathway early endosome|extracellular space|late endosome|membrane fraction|membrane raft|plasma membrane|proteinaceous extracellular matrix frizzled binding|frizzled-2 binding|signal transducer activity endometrium(2)|large_intestine(6)|lung(4)|prostate(1) 13 BRCA - Breast invasive adenocarcinoma(9;0.0257) GTTCATGGCCGAGCGCGCGTC 0.687000 3 43 0 0 1 0 0 CASP2 835 broad.mit.edu 37 7 142985577 142985577 + Missense_Mutation SNP C C T TCGA-W2-A7HA-01B-11D-A35I-08 TCGA-W2-A7HA-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128bdc90-ed54-4b8e-bfcb-b8577370c799 89e66736-c853-4d3c-b607-ac112afd81a6 g.chr7:142985577C>T ENST00000310447.5 + 1 270 c.29C>T c.(28-30)tCc>tTc p.S10F CASP2_ENST00000392925.2_Missense_Mutation_p.S10F NM_032982.3|NM_032983.3 NP_116764.2|NP_116765.2 P42575 CASP2_HUMAN caspase 2, apoptosis-related cysteine peptidase 10 apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|protein maturation by peptide bond cleavage cytosol cysteine-type endopeptidase activity|enzyme binding|protein binding|protein domain specific binding endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1) 21 Melanoma(164;0.059) GGGTCTTGGTCCACCTTCCAG 0.677000 12 20 0 0 1 0 0 FRG1BP 284802 broad.mit.edu 37 20 29628278 29628278 + Missense_Mutation SNP G G A TCGA-W2-A7HA-01B-11D-A35I-08 TCGA-W2-A7HA-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128bdc90-ed54-4b8e-bfcb-b8577370c799 89e66736-c853-4d3c-b607-ac112afd81a6 g.chr20:29628278G>A ENST00000278882.3 + 6 660 c.280G>A c.(280-282)Gca>Aca p.A94T FRG1B_ENST00000358464.4_Missense_Mutation_p.A94T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A99T endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGCAATGAAGCAGGGGACAT 0.373000 4 112 0 0 1 0 0 BTN2A3P 54718 broad.mit.edu 37 6 26422353 26422353 + RNA SNP C C T rs141013110 TCGA-W2-A7HA-01B-11D-A35I-08 TCGA-W2-A7HA-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128bdc90-ed54-4b8e-bfcb-b8577370c799 89e66736-c853-4d3c-b607-ac112afd81a6 g.chr6:26422353C>T ENST00000466808.2 + 0 7 p.P3S(2) GCTCATGGAACCAGCTGCTGC 0.622000 4 84 0 0 1 0 0 MCOLN2 255231 broad.mit.edu 37 1 85431293 85431293 + Missense_Mutation SNP C C A TCGA-W2-A7HA-01B-11D-A35I-08 TCGA-W2-A7HA-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128bdc90-ed54-4b8e-bfcb-b8577370c799 89e66736-c853-4d3c-b607-ac112afd81a6 g.chr1:85431293C>A ENST00000370608.3 - 2 243 c.176G>T c.(175-177)aGa>aTa p.R59I MCOLN2_ENST00000531325.1_5'UTR|MCOLN2_ENST00000284027.5_Missense_Mutation_p.R31I NM_153259.2 NP_694991.2 Q8IZK6 MCLN2_HUMAN mucolipin 2 59 integral to membrane ion channel activity NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2) 18 all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217) AATCTGGCGTCTGGCTCGGTA 0.413000 3 29 0.115264 0.115264 1 1 0 MSLN 10232 broad.mit.edu 37 16 816649 816649 + Silent SNP T T G TCGA-W2-A7HA-01B-11D-A35I-08 TCGA-W2-A7HA-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128bdc90-ed54-4b8e-bfcb-b8577370c799 89e66736-c853-4d3c-b607-ac112afd81a6 g.chr16:816649T>G ENST00000382862.3 + 13 1331 c.1236T>G c.(1234-1236)ccT>ccG p.P412P MSLN_ENST00000563941.1_Intron|MSLN_ENST00000545450.2_Intron|MSLN_ENST00000566549.1_Intron NM_013404.4 NP_037536.2 Q13421 MSLN_HUMAN mesothelin 412 cell adhesion anchored to membrane|extracellular region|Golgi apparatus|plasma membrane breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3) 20 Hepatocellular(780;0.00335) ACAAGGCTCCTCGGCGGCCCC 0.637000 17 115 0 0 1 0 0 TBC1D10C 374403 broad.mit.edu 37 11 67177213 67177213 + Missense_Mutation SNP C C G TCGA-W2-A7HA-01B-11D-A35I-08 TCGA-W2-A7HA-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128bdc90-ed54-4b8e-bfcb-b8577370c799 89e66736-c853-4d3c-b607-ac112afd81a6 g.chr11:67177213C>G ENST00000312390.5 + 10 1358 c.1329C>G c.(1327-1329)gaC>gaG p.D443E TBC1D10C_ENST00000526387.1_3'UTR|TBC1D10C_ENST00000542590.1_Missense_Mutation_p.D443E NM_198517.3 NP_940919.1 Q8IV04 TB10C_HUMAN TBC1 domain family, member 10C 443 Interaction with calcineurin. intracellular Rab GTPase activator activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) CCTTCCTGGACACCCGCTTCT 0.647000 5 17 0 0 1 0 0 TNKS 8658 broad.mit.edu 37 8 9627729 9627729 + Missense_Mutation SNP A A G TCGA-W2-A7HA-01B-11D-A35I-08 TCGA-W2-A7HA-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128bdc90-ed54-4b8e-bfcb-b8577370c799 89e66736-c853-4d3c-b607-ac112afd81a6 g.chr8:9627729A>G ENST00000310430.6 + 26 3880 c.3854A>G c.(3853-3855)aAt>aGt p.N1285S TNKS_ENST00000518281.1_Missense_Mutation_p.N1048S NM_003747.2 NP_003738.2 O95271 TNKS1_HUMAN tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 1285 PARP catalytic. mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2) 49 COAD - Colon adenocarcinoma(149;0.0467) CCGAGCGTCAATGGGCTGGCA 0.473000 16 33 0 0 1 0 0 FBXO15 201456 broad.mit.edu 37 18 71740825 71740825 + Silent SNP G G A TCGA-W2-A7HA-01B-11D-A35I-08 TCGA-W2-A7HA-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128bdc90-ed54-4b8e-bfcb-b8577370c799 89e66736-c853-4d3c-b607-ac112afd81a6 g.chr18:71740825G>A ENST00000269500.5 - 10 1511 c.1176C>T c.(1174-1176)taC>taT p.Y392Y FBXO15_ENST00000580806.1_5'UTR|FBXO15_ENST00000419743.2_Silent_p.Y468Y NM_152676.2 NP_689889.1 Q8NCQ5 FBX15_HUMAN F-box protein 15 392 autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2) 27 Esophageal squamous(42;0.103)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.143) CCGCATCAACGTAGTCCACGT 0.502000 5 183 0 0 1 0 0 WHAMMP3 339005 broad.mit.edu 37 15 23205094 23205094 + RNA SNP G G A TCGA-W2-A7HA-01B-11D-A35I-08 TCGA-W2-A7HA-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128bdc90-ed54-4b8e-bfcb-b8577370c799 89e66736-c853-4d3c-b607-ac112afd81a6 g.chr15:23205094G>A ENST00000400153.2 - 0 760 NR_003521.1 AGTACTGGAAGAACGTGGTTG 0.373000 3 20 0 0 1 0 0 PLXNB1 5364 broad.mit.edu 37 3 48445926 48445926 + Silent SNP T T C TCGA-W2-A7HA-01B-11D-A35I-08 TCGA-W2-A7HA-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128bdc90-ed54-4b8e-bfcb-b8577370c799 89e66736-c853-4d3c-b607-ac112afd81a6 g.chr3:48445926T>C ENST00000358536.4 - 38 6644 c.6375A>G c.(6373-6375)gcA>gcG p.A2125A PLXNB1_ENST00000358459.4_Silent_p.A1942A|PLXNB1_ENST00000448774.2_Silent_p.A736A|PLXNB1_ENST00000456774.1_Silent_p.A1942A|PLXNB1_ENST00000296440.6_Silent_p.A2125A NM_002673.4 NP_002664.2 O43157 PLXB1_HUMAN plexin B1 2125 axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) CCACAGCAGCTGCAATCTGCT 0.587000 3 23 0 0 1 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803543 142803543 + RNA SNP C C T TCGA-W2-A7HA-01B-11D-A35I-08 TCGA-W2-A7HA-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128bdc90-ed54-4b8e-bfcb-b8577370c799 89e66736-c853-4d3c-b607-ac112afd81a6 g.chr1:142803543C>T ENST00000423385.1 - 0 1422 TGTTGGAATTCCTGATGAATC 0.269000 4 157 0 0 1 0 0 FRG1BP 284802 broad.mit.edu 37 20 29628299 29628299 + Missense_Mutation SNP A A G TCGA-W2-A7HA-01B-11D-A35I-08 TCGA-W2-A7HA-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128bdc90-ed54-4b8e-bfcb-b8577370c799 89e66736-c853-4d3c-b607-ac112afd81a6 g.chr20:29628299A>G ENST00000278882.3 + 6 681 c.301A>G c.(301-303)Agt>Ggt p.S101G FRG1B_ENST00000358464.4_Missense_Mutation_p.S101G|FRG1B_ENST00000439954.2_Missense_Mutation_p.S106G endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 AGAAGCAAAAAGTAAAACAGC 0.363000 5 89 0 0 1 0 0 GJA5 2702 broad.mit.edu 37 1 147230307 147230307 + Missense_Mutation SNP G G A TCGA-W2-A7HA-01B-11D-A35I-08 TCGA-W2-A7HA-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128bdc90-ed54-4b8e-bfcb-b8577370c799 89e66736-c853-4d3c-b607-ac112afd81a6 g.chr1:147230307G>A ENST00000271348.2 - 2 1201 c.1040C>T c.(1039-1041)gCc>gTc p.A347V GJA5_ENST00000369237.1_Missense_Mutation_p.A347V|RP11-433J22.2_ENST00000428911.1_RNA NM_005266.5|NM_181703.2 NP_005257.2|NP_859054.1 P36382 CXA5_HUMAN gap junction protein, alpha 5, 40kDa 347 angiogenesis|cell-cell junction assembly|muscle contraction integral to membrane breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 20 all_hematologic(923;0.0276) LUSC - Lung squamous cell carcinoma(543;0.202) CTTGCTGCTGGCCTTACTAAG 0.542000 5 70 0 0 1 0 0 HAVCR1 26762 broad.mit.edu 37 5 156482298 156482298 + Missense_Mutation SNP G G A TCGA-W2-A7HA-01B-11D-A35I-08 TCGA-W2-A7HA-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128bdc90-ed54-4b8e-bfcb-b8577370c799 89e66736-c853-4d3c-b607-ac112afd81a6 g.chr5:156482298G>A ENST00000339252.3 - 2 825 c.293C>T c.(292-294)tCt>tTt p.S98F HAVCR1_ENST00000544197.1_Missense_Mutation_p.S98F|HAVCR1_ENST00000523175.1_Missense_Mutation_p.S98F|HAVCR1_ENST00000425854.1_Missense_Mutation_p.S98F|HAVCR1_ENST00000522693.1_Missense_Mutation_p.S98F NM_012206.2 NP_036338.2 Q96D42 HAVR1_HUMAN hepatitis A virus cellular receptor 1 98 Ig-like V-type. interspecies interaction between organisms integral to membrane receptor activity endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.0999) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GCCACTGTCAGACACAGCTGT 0.453000 8 83 0 0 1 0 0 CCL13 6357 broad.mit.edu 37 17 32685095 32685095 + Missense_Mutation SNP G G C TCGA-W2-A7HA-01B-11D-A35I-08 TCGA-W2-A7HA-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128bdc90-ed54-4b8e-bfcb-b8577370c799 89e66736-c853-4d3c-b607-ac112afd81a6 g.chr17:32685095G>C ENST00000225844.2 + 3 317 c.242G>C c.(241-243)tGg>tCg p.W81S NM_005408.2 NP_005399.1 Q99616 CCL13_HUMAN chemokine (C-C motif) ligand 13 81 cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|immune response|inflammatory response extracellular space chemokine activity|signal transducer activity large_intestine(1)|prostate(1) 2 Ovarian(249;0.0443)|Breast(31;0.151) AAGGAGAAGTGGGTCCAGAAT 0.493000 16 22 0 0 1 0 0 TBC1D1 23216 broad.mit.edu 37 4 38051409 38051409 + Silent SNP C C T TCGA-W2-A7HA-01B-11D-A35I-08 TCGA-W2-A7HA-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128bdc90-ed54-4b8e-bfcb-b8577370c799 89e66736-c853-4d3c-b607-ac112afd81a6 g.chr4:38051409C>T ENST00000261439.4 + 11 2155 c.1800C>T c.(1798-1800)ttC>ttT p.F600F TBC1D1_ENST00000508802.1_Silent_p.F600F NM_001253914.1|NM_001253915.1|NM_015173.3 NP_001240843.1|NP_001240844.1|NP_055988.2 Q86TI0 TBCD1_HUMAN TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 600 nucleus Rab GTPase activator activity NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 36 TGAGTCACTTCCCCATCGAAT 0.602000 32 60 0 0 1 0 0 ZNF334 55713 broad.mit.edu 37 20 45130415 45130415 + Silent SNP T T C TCGA-W2-A7HA-01B-11D-A35I-08 TCGA-W2-A7HA-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128bdc90-ed54-4b8e-bfcb-b8577370c799 89e66736-c853-4d3c-b607-ac112afd81a6 g.chr20:45130415T>C ENST00000457685.2 - 6 2772 c.1449A>G c.(1447-1449)gaA>gaG p.E483E ZNF334_ENST00000347606.4_Silent_p.E521E|ZNF334_ENST00000593880.1_Silent_p.E544E Q9HCZ1 ZN334_HUMAN zinc finger protein 334 521 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0122) CATGCCCATGTTCACTACACT 0.403000 5 230 0 0 1 0 0 TRAPPC10 7109 broad.mit.edu 37 21 45518255 45518255 + Silent SNP G G A TCGA-W2-A7HA-01B-11D-A35I-08 TCGA-W2-A7HA-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128bdc90-ed54-4b8e-bfcb-b8577370c799 89e66736-c853-4d3c-b607-ac112afd81a6 g.chr21:45518255G>A ENST00000291574.4 + 21 3361 c.3186G>A c.(3184-3186)aaG>aaA p.K1062K NM_003274.4 NP_003265.3 P48553 TPC10_HUMAN trafficking protein particle complex 10 1062 vesicle-mediated transport Golgi apparatus|integral to membrane binding|sodium ion transmembrane transporter activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4) 41 ACAACGTGAAGGCTGAGATCT 0.502000 11 79 0 0 1 0 0 LTBP1 4052 broad.mit.edu 37 2 33413856 33413856 + Missense_Mutation SNP G G A TCGA-W2-A7HA-01B-11D-A35I-08 TCGA-W2-A7HA-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128bdc90-ed54-4b8e-bfcb-b8577370c799 89e66736-c853-4d3c-b607-ac112afd81a6 g.chr2:33413856G>A ENST00000404816.2 + 7 1992 c.1639G>A c.(1639-1641)Gtc>Atc p.V547I LTBP1_ENST00000354476.3_Missense_Mutation_p.V547I|LTBP1_ENST00000390003.4_Missense_Mutation_p.V221I|LTBP1_ENST00000418533.2_Missense_Mutation_p.V221I|LTBP1_ENST00000404525.1_Missense_Mutation_p.V221I|LTBP1_ENST00000407925.1_Missense_Mutation_p.V221I|LTBP1_ENST00000402934.1_Missense_Mutation_p.V221I Q14766 LTBP1_HUMAN latent transforming growth factor beta binding protein 1 547 negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3) 108 all_hematologic(175;0.115) Medulloblastoma(90;0.215) CATTCCTCACGTCTACCCCGT 0.537000 36 61 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367767 145367767 + Missense_Mutation SNP G G A rs77484671 TCGA-W2-A7HA-01B-11D-A35I-08 TCGA-W2-A7HA-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128bdc90-ed54-4b8e-bfcb-b8577370c799 89e66736-c853-4d3c-b607-ac112afd81a6 g.chr1:145367767G>A ENST00000342960.5 + 83 10398 c.10363G>A c.(10363-10365)Gaa>Aaa p.E3455K NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3455 p.E3455K(5) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) atcaaagaaggaaagaagaag 0.423000 5 66 0 0 1 0 0 HELZ 9931 broad.mit.edu 37 17 65074569 65074569 + Silent SNP C C T TCGA-W2-A7HA-01B-11D-A35I-08 TCGA-W2-A7HA-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128bdc90-ed54-4b8e-bfcb-b8577370c799 89e66736-c853-4d3c-b607-ac112afd81a6 g.chr17:65074569C>T ENST00000358691.5 - 33 5794 c.5628G>A c.(5626-5628)gcG>gcA p.A1876A HELZ_ENST00000580168.1_Silent_p.A1877A NM_014877.3 NP_055692.2 helicase with zinc finger NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13) TGGCCGACTCCGCGATCTGCT 0.612000 84 129 0 0 1 0 0 ARL2 402 broad.mit.edu 37 11 64781694 64781694 + Silent SNP C C T TCGA-W2-A7HA-01B-11D-A35I-08 TCGA-W2-A7HA-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128bdc90-ed54-4b8e-bfcb-b8577370c799 89e66736-c853-4d3c-b607-ac112afd81a6 g.chr11:64781694C>T ENST00000246747.4 + 1 110 c.15C>T c.(13-15)acC>acT p.T5T ARL2_ENST00000529384.1_Silent_p.T5T|ARL2_ENST00000533729.1_Silent_p.T5T|SNX15_ENST00000301886.3_3'UTR NM_001667.3 NP_001658.2 P36404 ARL2_HUMAN ADP-ribosylation factor-like 2 5 cell cycle|centrosome organization|maintenance of protein location in nucleus|negative regulation of GTPase activity|positive regulation of cell-substrate adhesion|positive regulation of microtubule polymerization|small GTPase mediated signal transduction|tight junction assembly|tubulin complex assembly centrosome|lateral plasma membrane|mitochondrial intermembrane space|nucleus GTP binding|GTPase activity|GTPase inhibitor activity|protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1) 5 GGCTCCTGACCATTCTGAAGA 0.672000 8 8 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186276366 186276366 + Silent SNP G G A TCGA-W2-A7HA-01B-11D-A35I-08 TCGA-W2-A7HA-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128bdc90-ed54-4b8e-bfcb-b8577370c799 89e66736-c853-4d3c-b607-ac112afd81a6 g.chr1:186276366G>A ENST00000445192.2 + 7 1560 c.1515G>A c.(1513-1515)gaG>gaA p.E505E PRG4_ENST00000367483.4_Silent_p.E464E|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Silent_p.E412E|PRG4_ENST00000367486.3_Silent_p.E462E NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 505 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CTCCCAAGGAGCCTGCACCCA 0.647000 4 128 0 0 1 0 0 TAB3 257397 broad.mit.edu 37 X 30872733 30872733 + Missense_Mutation SNP T T C TCGA-W2-A7HA-01B-11D-A35I-08 TCGA-W2-A7HA-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128bdc90-ed54-4b8e-bfcb-b8577370c799 89e66736-c853-4d3c-b607-ac112afd81a6 g.chrX:30872733T>C ENST00000378933.1 - 3 1226 c.1049A>G c.(1048-1050)tAt>tGt p.Y350C TAB3_ENST00000378930.3_Missense_Mutation_p.Y350C|TAB3_ENST00000378932.2_Missense_Mutation_p.Y350C|TAB3-AS2_ENST00000445240.1_RNA|TAB3_ENST00000288422.2_Missense_Mutation_p.Y350C NM_152787.3 NP_690000.2 Q8N5C8 TAB3_HUMAN TGF-beta activated kinase 1/MAP3K7 binding protein 3 350 Pro-rich. activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane protein binding|zinc ion binding NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1) 27 GTATGGAAGATAGGCTACTGA 0.433000 3 58 0 0 1 0 0 BCRP7 100133163 broad.mit.edu 37 22 18844763 18844763 + RNA SNP T T C TCGA-W2-A7HA-01B-11D-A35I-08 TCGA-W2-A7HA-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128bdc90-ed54-4b8e-bfcb-b8577370c799 89e66736-c853-4d3c-b607-ac112afd81a6 g.chr22:18844763T>C ENST00000412938.1 + 0 3013 TCACAGCCTCTGAGGGCAGCA 0.562000 3 13 0 0 1 0 0 HSP90AA1 3320 broad.mit.edu 37 14 102551717 102551717 + Missense_Mutation SNP T T G TCGA-W2-A7HA-01B-11D-A35I-08 TCGA-W2-A7HA-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128bdc90-ed54-4b8e-bfcb-b8577370c799 89e66736-c853-4d3c-b607-ac112afd81a6 g.chr14:102551717T>G ENST00000334701.7 - 5 1228 c.947A>C c.(946-948)cAa>cCa p.Q316P HSP90AA1_ENST00000441629.2_Missense_Mutation_p.Q15P|HSP90AA1_ENST00000216281.8_Missense_Mutation_p.Q194P NM_001017963.2 NP_001017963.2 P07900 HS90A_HUMAN heat shock protein 90kDa alpha (cytosolic), class A member 1 194 axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction cytosol|melanosome|plasma membrane ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1) 28 Rifabutin(DB00615) GTACTCAGTTTGGTCTTCTTT 0.343000 21 32 0 0 1 0 0 SYT3 84258 broad.mit.edu 37 19 51135613 51135613 + Missense_Mutation SNP G G A TCGA-W2-A7HA-01B-11D-A35I-08 TCGA-W2-A7HA-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128bdc90-ed54-4b8e-bfcb-b8577370c799 89e66736-c853-4d3c-b607-ac112afd81a6 g.chr19:51135613G>A ENST00000338916.4 - 2 1237 c.604C>T c.(604-606)Ccc>Tcc p.P202S SYT3_ENST00000600079.1_Missense_Mutation_p.P202S|SYT3_ENST00000593901.1_Missense_Mutation_p.P202S|SYT3_ENST00000544769.1_Missense_Mutation_p.P202S NM_032298.2 NP_115674.1 Q9BQG1 SYT3_HUMAN synaptotagmin III 202 cell junction|endosome|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2) 35 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188) CCACTGGGGGGCAGCAGGAGC 0.652000 18 31 0 0 1 0 0 GPR148 344561 broad.mit.edu 37 2 131486787 131486787 + Silent SNP C C T TCGA-W2-A7HA-01B-11D-A35I-08 TCGA-W2-A7HA-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128bdc90-ed54-4b8e-bfcb-b8577370c799 89e66736-c853-4d3c-b607-ac112afd81a6 g.chr2:131486787C>T ENST00000309926.4 + 1 145 c.63C>T c.(61-63)ctC>ctT p.L21L NM_207364.2 NP_997247.2 Q8TDV2 GP148_HUMAN G protein-coupled receptor 148 21 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1) 27 Colorectal(110;0.1) TGATCCAGCTCATCAGCAAGA 0.612000 14 98 0 0 1 0 0 THBS1 7057 broad.mit.edu 37 15 39885298 39885298 + Silent SNP C C T rs139289744 byFrequency TCGA-W2-A7HA-01B-11D-A35I-08 TCGA-W2-A7HA-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128bdc90-ed54-4b8e-bfcb-b8577370c799 89e66736-c853-4d3c-b607-ac112afd81a6 g.chr15:39885298C>T ENST00000260356.5 + 18 3030 c.2865C>T c.(2863-2865)acC>acT p.T955T NM_003246.2 NP_003237.2 P07996 TSP1_HUMAN thrombospondin 1 955 activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223) GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105) Becaplermin(DB00102) TCAGTGAGACCGATTTCCGCC 0.502000 5 36 0 0 1 0 0 ANKRD36BP2 645784 broad.mit.edu 37 2 89083945 89083946 + RNA INS - - GC TCGA-W2-A7HA-01B-11D-A35I-08 TCGA-W2-A7HA-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128bdc90-ed54-4b8e-bfcb-b8577370c799 89e66736-c853-4d3c-b607-ac112afd81a6 g.chr2:89083945_89083946insGC ENST00000393525.3 + 0 576 GTATTCCTTTTTTTTCAGTGTA 0.347 3 4 --- --- --- --- CTC-338M12.9 0 broad.mit.edu 37 5 180708776 180708777 + RNA INS - - G rs140221514 TCGA-W2-A7HA-01B-11D-A35I-08 TCGA-W2-A7HA-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128bdc90-ed54-4b8e-bfcb-b8577370c799 89e66736-c853-4d3c-b607-ac112afd81a6 g.chr5:180708776_180708777insG ENST00000412295.2 + 0 238 gggcggtaggagggggctggag 0.728 6 10 --- --- --- --- EFNB3 1949 broad.mit.edu 37 17 7612004 7612004 + Frame_Shift_Del DEL A A - TCGA-W2-A7HA-01B-11D-A35I-08 TCGA-W2-A7HA-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128bdc90-ed54-4b8e-bfcb-b8577370c799 89e66736-c853-4d3c-b607-ac112afd81a6 g.chr17:7612004delA ENST00000226091.2 + 4 957 c.560delA c.(559-561)gafs p.E187fs NM_001406.3 NP_001397.1 Q15768 EFNB3_HUMAN ephrin-B3 187 cell-cell signaling|interspecies interaction between organisms integral to plasma membrane ephrin receptor binding|transmembrane-ephrin receptor activity large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1) 8 all_cancers(10;1.14e-06)|Prostate(122;0.081) ATGCCCATGGAAAGAGACCGA 0.632 2 4 --- --- --- --- KLHL34 257240 broad.mit.edu 37 X 21674920 21674922 + In_Frame_Del DEL CTC CTC - TCGA-W2-A7HA-01B-11D-A35I-08 TCGA-W2-A7HA-10C-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 128bdc90-ed54-4b8e-bfcb-b8577370c799 89e66736-c853-4d3c-b607-ac112afd81a6 g.chrX:21674920_21674922delCTC ENST00000379499.2 - 1 1526_1528 c.985_987delGAG c.(985-987)del p.E329del NM_153270.1 NP_695002.1 Q8N239 KLH34_HUMAN kelch-like family member 34 329 Glu-rich. cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1) 26 TGAGCTCCCActcctcctcctcc 0.650 2 4 --- --- --- ---