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 FCRL4 83417 broad.mit.edu 37 1 157551405 157551405 + Missense_Mutation SNP C C T rs143188744 byFrequency TCGA-EJ-5494-01A-01D-1576-08 TCGA-EJ-5494-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3c8c9d3-e3d6-45ea-b448-e1143892a190 d498facd-d3ad-4e75-87a2-bea5253d9f1f g.chr1:157551405C>T ENST00000271532.1 - 7 1300 c.1165G>A c.(1165-1167)Gcc>Acc p.A389T FCRL4_ENST00000448509.2_5'UTR NM_031282.2 NP_112572.1 Q96PJ5 FCRL4_HUMAN Fc receptor-like 4 389 integral to membrane|plasma membrane receptor activity p.A389T(1) breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 40 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.245) GCTCCCGCGGCGACAAGGCCA 0.572 5 44 --- --- --- --- HMCN1 83872 broad.mit.edu 37 1 186147655 186147655 + Missense_Mutation SNP G G A rs144069476 by1000genomes TCGA-EJ-5494-01A-01D-1576-08 TCGA-EJ-5494-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3c8c9d3-e3d6-45ea-b448-e1143892a190 d498facd-d3ad-4e75-87a2-bea5253d9f1f g.chr1:186147655G>A ENST00000271588.4 + 104 16280 c.16051G>A c.(16051-16053)Ggg>Agg p.G5351R HMCN1_ENST00000367492.2_Intron NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 5351 EGF-like 6; calcium-binding (Potential). response to stimulus|visual perception basement membrane calcium ion binding p.G5351W(1)|p.G5351R(1) NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 ATTAGGGGACGGGAAATCTTG 0.483 11 333 --- --- --- --- UBR3 130507 broad.mit.edu 37 2 170930058 170930058 + Missense_Mutation SNP A A G TCGA-EJ-5494-01A-01D-1576-08 TCGA-EJ-5494-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3c8c9d3-e3d6-45ea-b448-e1143892a190 d498facd-d3ad-4e75-87a2-bea5253d9f1f g.chr2:170930058A>G ENST00000272793.5 + 36 5190 c.5140A>G c.(5140-5142)Ata>Gta p.I1714V UBR3_ENST00000418381.1_Missense_Mutation_p.I1714V|UBR3_ENST00000392631.1_Missense_Mutation_p.I535V Q6ZT12 UBR3_HUMAN ubiquitin protein ligase E3 component n-recognin 3 (putative) 1714 sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process integral to membrane ubiquitin-protein ligase activity|zinc ion binding p.I567V(1)|p.I1714V(1) breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1) 33 ATTTGATATTATAACTCAGTG 0.418 91 137 --- --- --- --- SCN11A 11280 broad.mit.edu 37 3 38936053 38936053 + Missense_Mutation SNP G G A TCGA-EJ-5494-01A-01D-1576-08 TCGA-EJ-5494-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3c8c9d3-e3d6-45ea-b448-e1143892a190 d498facd-d3ad-4e75-87a2-bea5253d9f1f g.chr3:38936053G>A ENST00000450244.1 - 15 3004 c.2806C>T c.(2806-2808)Cgc>Tgc p.R936C SCN11A_ENST00000444237.2_Missense_Mutation_p.R936C|SCN11A_ENST00000456224.3_Missense_Mutation_p.R936C|SCN11A_ENST00000302328.3_Missense_Mutation_p.R936C Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 936 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) TGTGTGATGCGCTGTGCATTA 0.493 10 480 --- --- --- --- CTNNB1 1499 broad.mit.edu 37 3 41266098 41266098 + Missense_Mutation SNP A A T rs121913396 TCGA-EJ-5494-01A-01D-1576-08 TCGA-EJ-5494-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3c8c9d3-e3d6-45ea-b448-e1143892a190 d498facd-d3ad-4e75-87a2-bea5253d9f1f g.chr3:41266098A>T ENST00000349496.5 + 3 375 c.95A>T c.(94-96)gAc>gTc p.D32V CTNNB1_ENST00000396185.3_Missense_Mutation_p.D32V|CTNNB1_ENST00000453024.1_Missense_Mutation_p.D25V|CTNNB1_ENST00000405570.1_Missense_Mutation_p.D32V|CTNNB1_ENST00000396183.3_Missense_Mutation_p.D32V NM_001904.3 NP_001895.1 P35222 CTNB1_HUMAN catenin (cadherin-associated protein), beta 1, 88kDa 32 D -> A (in hepatocellular carcinoma).|D -> G (in PTR and hepatocellular carcinoma).|D -> Y (in PTR, hepatoblastoma and hepatocellular carcinoma; dbSNP:rs28931588).|Missing (in hepatocellular carcinoma). adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding p.D32G(65)|p.A5_A80del(53)|p.D32V(33)|p.D32A(16)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.WQQQSYLD25?(5)|p.W25_D32del(4)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.S23_S33del(2)|p.V22_S33del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.Y30_S33del(2)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.S29_H36del(1)|p.D32del(1)|p.M14_S45del(1)|p.Q28_D32>H(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.H24_G38del(1)|p.S23_I35del(1)|p.Y30_A97del(1)|p.W25_S33del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.D32fs*9(1)|p.A20_I35del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.Y30_A80del(1)|p.A5_T40del(1)|p.A5_E54del(1)|p.W25_I35del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.A5_I35del(1)|p.D32_H36del(1) CTNNB1/PLAG1(60) NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8) 3893 KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294) Lithium(DB01356) TCTTACCTGGACTCTGGAATC 0.483 D32V(HEC265_ENDOMETRIUM)|D32V(HEC6_ENDOMETRIUM) 15 """H, Mis, T""" PLAG1 """colorectal, cvarian, hepatoblastoma, others, pleomorphic salivary adenoma""" Pilomatrixoma, Familial Clustering of 5 52 --- --- --- --- FHIT 2272 broad.mit.edu 37 3 59999869 59999869 + Missense_Mutation SNP A A G TCGA-EJ-5494-01A-01D-1576-08 TCGA-EJ-5494-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3c8c9d3-e3d6-45ea-b448-e1143892a190 d498facd-d3ad-4e75-87a2-bea5253d9f1f g.chr3:59999869A>G ENST00000468189.1 - 6 483 c.113T>C c.(112-114)gTg>gCg p.V38A FHIT_ENST00000341848.4_Missense_Mutation_p.V38A|FHIT_ENST00000492590.1_Missense_Mutation_p.V38A|FHIT_ENST00000476844.1_Missense_Mutation_p.V38A|FHIT_ENST00000466788.1_Intron P49789 FHIT_HUMAN fragile histidine triad 38 HIT. nucleotide metabolic process bis(5'-adenosyl)-triphosphatase activity|protein binding p.V38A(2) NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1) 12 all_cancers(2;2.37e-314)|all_epithelial(2;5.17e-286)|Colorectal(2;1.24e-68)|all_lung(2;1.31e-45)|Lung NSC(2;1.79e-44)|all_hematologic(2;1.59e-23)|Renal(2;1.03e-13)|Breast(2;1.06e-10)|Esophageal squamous(2;6.31e-09)|Melanoma(2;1.83e-07)|Acute lymphoblastic leukemia(2;5.46e-05)|all_neural(2;0.00118)|Medulloblastoma(2;0.00263)|Hepatocellular(2;0.0245)|Ovarian(2;0.0408) UCEC - Uterine corpus endometrioid carcinoma (45;0.0887)|Epithelial(1;9.28e-70)|all cancers(1;3.07e-60)|Colorectal(1;2.33e-53)|STAD - Stomach adenocarcinoma(1;7.22e-48)|COAD - Colon adenocarcinoma(3;1.05e-44)|READ - Rectum adenocarcinoma(3;2.41e-08)|KIRC - Kidney renal clear cell carcinoma(10;0.000109)|Kidney(10;0.000125)|Lung(1;0.000161)|LUSC - Lung squamous cell carcinoma(1;0.000742)|OV - Ovarian serous cystadenocarcinoma(275;0.00372)|BRCA - Breast invasive adenocarcinoma(55;0.00448) CAGCGGGCACACAAGGACATC 0.542 T HMGA2 pleomorphic salivary gland adenoma Renal Cell Cancer associated with constitutional translocation of chromosome 3 6 84 --- --- --- --- LIMCH1 22998 broad.mit.edu 37 4 41621299 41621299 + Silent SNP G G A TCGA-EJ-5494-01A-01D-1576-08 TCGA-EJ-5494-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3c8c9d3-e3d6-45ea-b448-e1143892a190 d498facd-d3ad-4e75-87a2-bea5253d9f1f g.chr4:41621299G>A ENST00000313860.7 + 8 831 c.777G>A c.(775-777)gaG>gaA p.E259E LIMCH1_ENST00000513024.1_Silent_p.E100E|LIMCH1_ENST00000509638.1_Silent_p.E100E|LIMCH1_ENST00000512820.1_Silent_p.E259E|LIMCH1_ENST00000514096.1_Silent_p.E112E|LIMCH1_ENST00000512632.1_Silent_p.E259E|LIMCH1_ENST00000503057.1_Silent_p.E100E|LIMCH1_ENST00000511496.1_Silent_p.E100E|LIMCH1_ENST00000508501.1_Silent_p.E259E|LIMCH1_ENST00000381753.4_Silent_p.E105E|LIMCH1_ENST00000509277.1_Silent_p.E105E|LIMCH1_ENST00000396595.3_Silent_p.E105E|LIMCH1_ENST00000509454.1_Silent_p.E107E|LIMCH1_ENST00000512946.1_Silent_p.E259E NM_014988.2 NP_055803.2 Q9UPQ0 LIMC1_HUMAN LIM and calponin homology domains 1 259 actomyosin structure organization actin binding|zinc ion binding p.E259E(1)|p.E100E(1) central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5) 41 CCCATGGTGAGCCGAAATCAG 0.547 18 261 --- --- --- --- PCDHB7 56129 broad.mit.edu 37 5 140554610 140554610 + Nonsense_Mutation SNP C C T TCGA-EJ-5494-01A-01D-1576-08 TCGA-EJ-5494-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3c8c9d3-e3d6-45ea-b448-e1143892a190 d498facd-d3ad-4e75-87a2-bea5253d9f1f g.chr5:140554610C>T ENST00000231137.3 + 1 2368 c.2194C>T c.(2194-2196)Cga>Tga p.R732* NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 732 calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.R732*(2) NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCCCTTTCCACGACATCTGGT 0.637 21 525 --- --- --- --- CDK19 23097 broad.mit.edu 37 6 110948346 110948346 + Missense_Mutation SNP T T C TCGA-EJ-5494-01A-01D-1576-08 TCGA-EJ-5494-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3c8c9d3-e3d6-45ea-b448-e1143892a190 d498facd-d3ad-4e75-87a2-bea5253d9f1f g.chr6:110948346T>C ENST00000368911.3 - 7 828 c.649A>G c.(649-651)Ata>Gta p.I217V CDK19_ENST00000323817.3_Missense_Mutation_p.I157V|CDK19_ENST00000413605.2_Missense_Mutation_p.I93V NM_015076.3 NP_055891.1 Q9BWU1 CDK19_HUMAN cyclin-dependent kinase 19 217 Protein kinase. ATP binding|cyclin-dependent protein kinase activity|protein binding p.I217V(1) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1) 22 ATTGCCCATATATCTGGGAAG 0.318 45 80 --- --- --- --- NEUROD6 63974 broad.mit.edu 37 7 31378446 31378446 + Missense_Mutation SNP A A G TCGA-EJ-5494-01A-01D-1576-08 TCGA-EJ-5494-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3c8c9d3-e3d6-45ea-b448-e1143892a190 d498facd-d3ad-4e75-87a2-bea5253d9f1f g.chr7:31378446A>G ENST00000297142.3 - 2 759 c.437T>C c.(436-438)cTt>cCt p.L146P NM_022728.2 NP_073565.2 Q96NK8 NDF6_HUMAN neuronal differentiation 6 146 Helix-loop-helix motif. cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding p.L146P(1) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 32 AATTTCAGAAAGTGCCCAGAT 0.443 42 94 --- --- --- --- ENPP2 5168 broad.mit.edu 37 8 120569893 120569893 + Missense_Mutation SNP C C T TCGA-EJ-5494-01A-01D-1576-08 TCGA-EJ-5494-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3c8c9d3-e3d6-45ea-b448-e1143892a190 d498facd-d3ad-4e75-87a2-bea5253d9f1f g.chr8:120569893C>T ENST00000427067.2 - 26 2703 c.2523G>A c.(2521-2523)atG>atA p.M841I ENPP2_ENST00000522167.1_Missense_Mutation_p.M455I|ENPP2_ENST00000259486.6_Missense_Mutation_p.M872I|ENPP2_ENST00000075322.6_Missense_Mutation_p.M820I|ENPP2_ENST00000522826.1_Missense_Mutation_p.M845I Q13822 ENPP2_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 2 820 Required for secretion (By similarity). cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration extracellular space|integral to plasma membrane alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding p.M872I(2) breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4) 69 Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) TGTGCATCTTCATGAGTTCTT 0.463 7 228 --- --- --- --- CRB2 286204 broad.mit.edu 37 9 126132707 126132707 + Missense_Mutation SNP C C A TCGA-EJ-5494-01A-01D-1576-08 TCGA-EJ-5494-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3c8c9d3-e3d6-45ea-b448-e1143892a190 d498facd-d3ad-4e75-87a2-bea5253d9f1f g.chr9:126132707C>A ENST00000373631.3 + 7 1376 c.1375C>A c.(1375-1377)Ctg>Atg p.L459M CRB2_ENST00000359999.3_Missense_Mutation_p.L459M|CRB2_ENST00000373629.2_Missense_Mutation_p.L127M NM_173689.5 NP_775960.4 Q5IJ48 CRUM2_HUMAN crumbs homolog 2 (Drosophila) 459 Laminin G-like 1. extracellular region|integral to membrane|plasma membrane calcium ion binding p.L459M(1) NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3) 23 TGGTGGCCCCCTGGGTCTGGC 0.617 5 56 --- --- --- --- CRB2 286204 broad.mit.edu 37 9 126132708 126132708 + Missense_Mutation SNP T T A TCGA-EJ-5494-01A-01D-1576-08 TCGA-EJ-5494-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3c8c9d3-e3d6-45ea-b448-e1143892a190 d498facd-d3ad-4e75-87a2-bea5253d9f1f g.chr9:126132708T>A ENST00000373631.3 + 7 1377 c.1376T>A c.(1375-1377)cTg>cAg p.L459Q CRB2_ENST00000359999.3_Missense_Mutation_p.L459Q|CRB2_ENST00000373629.2_Missense_Mutation_p.L127Q NM_173689.5 NP_775960.4 Q5IJ48 CRUM2_HUMAN crumbs homolog 2 (Drosophila) 459 Laminin G-like 1. extracellular region|integral to membrane|plasma membrane calcium ion binding p.L459Q(1) NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3) 23 GGTGGCCCCCTGGGTCTGGCA 0.612 5 55 --- --- --- --- SH3GLB2 56904 broad.mit.edu 37 9 131772101 131772101 + Missense_Mutation SNP T T C TCGA-EJ-5494-01A-01D-1576-08 TCGA-EJ-5494-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3c8c9d3-e3d6-45ea-b448-e1143892a190 d498facd-d3ad-4e75-87a2-bea5253d9f1f g.chr9:131772101T>C ENST00000372564.3 - 9 933 c.788A>G c.(787-789)tAc>tGc p.Y263C SH3GLB2_ENST00000372554.4_Missense_Mutation_p.Y267C|SH3GLB2_ENST00000372559.1_Missense_Mutation_p.Y263C|SH3GLB2_ENST00000417224.1_Missense_Mutation_p.Y263C|SH3GLB2_ENST00000416629.1_Missense_Mutation_p.Y242C NM_020145.2 NP_064530.1 Q9NR46 SHLB2_HUMAN SH3-domain GRB2-like endophilin B2 263 BAR. filopodium assembly|signal transduction cytoplasm|nucleus cytoskeletal adaptor activity|SH3 domain binding p.Y263C(1) NS(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1) 12 CTGTGCGTAGTAGGTTGTCTG 0.622 9 13 --- --- --- --- CUL2 8453 broad.mit.edu 37 10 35351967 35351967 + Missense_Mutation SNP G G A TCGA-EJ-5494-01A-01D-1576-08 TCGA-EJ-5494-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3c8c9d3-e3d6-45ea-b448-e1143892a190 d498facd-d3ad-4e75-87a2-bea5253d9f1f g.chr10:35351967G>A ENST00000374748.1 - 4 456 c.143C>T c.(142-144)gCc>gTc p.A48V CUL2_ENST00000374742.1_Missense_Mutation_p.A48V|CUL2_ENST00000374749.3_Missense_Mutation_p.A48V|CUL2_ENST00000374751.3_Missense_Mutation_p.A48V|CUL2_ENST00000374746.1_Missense_Mutation_p.A48V|CUL2_ENST00000537177.1_Missense_Mutation_p.A67V|CUL2_ENST00000602371.1_Missense_Mutation_p.P6S Q13617 CUL2_HUMAN cullin 2 48 cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex ubiquitin protein ligase binding p.A48V(1) breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2) 31 TTCAGGATAGGCCACACATAA 0.313 11 118 --- --- --- --- MEN1 4221 broad.mit.edu 37 11 64572284 64572284 + Missense_Mutation SNP C C T TCGA-EJ-5494-01A-01D-1576-08 TCGA-EJ-5494-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3c8c9d3-e3d6-45ea-b448-e1143892a190 d498facd-d3ad-4e75-87a2-bea5253d9f1f g.chr11:64572284C>T ENST00000337652.1 - 10 1873 c.1370G>A c.(1369-1371)cGg>cAg p.R457Q MEN1_ENST00000394376.1_Missense_Mutation_p.R457Q|MEN1_ENST00000377321.1_Missense_Mutation_p.R417Q|MEN1_ENST00000312049.6_Missense_Mutation_p.R452Q|MEN1_ENST00000377316.2_Missense_Mutation_p.R397Q|MEN1_ENST00000377313.1_Missense_Mutation_p.R457Q|MEN1_ENST00000315422.4_Missense_Mutation_p.R452Q|MEN1_ENST00000478548.1_5'UTR|MEN1_ENST00000377326.3_Missense_Mutation_p.R452Q|MEN1_ENST00000394374.2_Missense_Mutation_p.R457Q|MEN1_ENST00000443283.1_Missense_Mutation_p.R457Q NM_130803.2 NP_570715 O00255 MEN1_HUMAN multiple endocrine neoplasia I 457 DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding p.R452Q(1) NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2) 337 CACCTTCTGCCGCACCTGGGC 0.726 """D, Mis, N, F, S""" """parathyroid tumors, Pancreatic neuroendocrine tumors""" """parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid""" Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated 21 119 --- --- --- --- FOXA1 3169 broad.mit.edu 37 14 38060572 38060572 + Nonstop_Mutation SNP A A C TCGA-EJ-5494-01A-01D-1576-08 TCGA-EJ-5494-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3c8c9d3-e3d6-45ea-b448-e1143892a190 d498facd-d3ad-4e75-87a2-bea5253d9f1f g.chr14:38060572A>C ENST00000250448.2 - 2 1478 c.1417T>G c.(1417-1419)Tag>Gag p.*473E FOXA1_ENST00000540786.1_Nonstop_Mutation_p.*440E|FOXA1_ENST00000545425.2_5'UTR NM_004496.3 NP_004487.2 P55317 FOXA1_HUMAN forkhead box A1 0 chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development transcription factor complex DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding p.*473E(1) breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12) 19 Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213) Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239) GBM - Glioblastoma multiforme(112;0.0222) CCCGGGAGCTAGGAAGTGTTT 0.562 4 88 --- --- --- --- LAMA3 3909 broad.mit.edu 37 18 21426327 21426327 + Silent SNP C C T TCGA-EJ-5494-01A-01D-1576-08 TCGA-EJ-5494-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3c8c9d3-e3d6-45ea-b448-e1143892a190 d498facd-d3ad-4e75-87a2-bea5253d9f1f g.chr18:21426327C>T ENST00000313654.9 + 31 4027 c.3786C>T c.(3784-3786)ggC>ggT p.G1262G LAMA3_ENST00000399516.3_Silent_p.G1262G NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 1262 Domain IV 1 (domain IV B). cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity p.G1262G(1) NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) ACCACAAGGGCGCCCTGCCTT 0.632 7 189 --- --- --- --- SIPA1L3 23094 broad.mit.edu 37 19 38572930 38572930 + Missense_Mutation SNP T T C TCGA-EJ-5494-01A-01D-1576-08 TCGA-EJ-5494-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3c8c9d3-e3d6-45ea-b448-e1143892a190 d498facd-d3ad-4e75-87a2-bea5253d9f1f g.chr19:38572930T>C ENST00000222345.6 + 3 1234 c.725T>C c.(724-726)cTc>cCc p.L242P NM_015073.1 NP_055888.1 O60292 SI1L3_HUMAN signal-induced proliferation-associated 1 like 3 242 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity p.L242P(1) NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3) 59 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) ACCGAGCTCCTCCGGGCAGAT 0.701 3 58 --- --- --- --- CEP250 11190 broad.mit.edu 37 20 34091637 34091637 + Missense_Mutation SNP C C G TCGA-EJ-5494-01A-01D-1576-08 TCGA-EJ-5494-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3c8c9d3-e3d6-45ea-b448-e1143892a190 d498facd-d3ad-4e75-87a2-bea5253d9f1f g.chr20:34091637C>G ENST00000397527.1 + 30 6160 c.5440C>G c.(5440-5442)Cag>Gag p.Q1814E CEP250_ENST00000342580.4_Missense_Mutation_p.Q1758E NM_007186.3 NP_009117.2 Q9BV73 CP250_HUMAN centrosomal protein 250kDa 1814 Gln/Glu-rich. centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex protein C-terminus binding|protein kinase binding p.Q1814E(1) NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Lung NSC(9;0.00156)|all_lung(11;0.00243) BRCA - Breast invasive adenocarcinoma(18;0.0106) AGCCCTAGCCCAGAGGGACCA 0.607 5 100 --- --- --- --- MXRA5 25878 broad.mit.edu 37 X 3242966 3242966 + Missense_Mutation SNP C C A TCGA-EJ-5494-01A-01D-1576-08 TCGA-EJ-5494-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3c8c9d3-e3d6-45ea-b448-e1143892a190 d498facd-d3ad-4e75-87a2-bea5253d9f1f g.chrX:3242966C>A ENST00000217939.6 - 5 914 c.760G>T c.(760-762)Gca>Tca p.A254S NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 254 LRRCT. extracellular region p.A254S(3) NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) AAGCACATTGCACACAACTGA 0.408 9 46 --- --- --- --- MIR4485 100616263 broad.mit.edu 37 M 2205 2205 + RNA SNP T T C TCGA-EJ-5494-01A-01D-1576-08 TCGA-EJ-5494-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3c8c9d3-e3d6-45ea-b448-e1143892a190 d498facd-d3ad-4e75-87a2-bea5253d9f1f g.chrM:2205T>C ENST00000387347.2 + 0 535 NR_039705.1 TTAAGAAAGCGTTCAAGCTCA 0.388 6 2 --- --- --- --- ASH1L 55870 broad.mit.edu 37 1 155448689 155448689 + Frame_Shift_Del DEL A A - TCGA-EJ-5494-01A-01D-1576-08 TCGA-EJ-5494-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3c8c9d3-e3d6-45ea-b448-e1143892a190 d498facd-d3ad-4e75-87a2-bea5253d9f1f g.chr1:155448689delA ENST00000368346.3 - 3 4611 c.3972delT c.(3970-3972)tttfs p.F1324fs ASH1L_ENST00000392403.3_Frame_Shift_Del_p.F1324fs Q9NR48 ASH1L_HUMAN ash1 (absent, small, or homeotic)-like (Drosophila) 1324 cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4) 124 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) AGAAACTATTAAAGTTGATTC 0.408 7 268 --- --- --- --- FOXA1 3169 broad.mit.edu 37 14 38060721 38060721 + Frame_Shift_Del DEL G G - TCGA-EJ-5494-01A-01D-1576-08 TCGA-EJ-5494-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3c8c9d3-e3d6-45ea-b448-e1143892a190 d498facd-d3ad-4e75-87a2-bea5253d9f1f g.chr14:38060721delG ENST00000250448.2 - 2 1329 c.1268delC c.(1267-1269)gcafs p.A423fs FOXA1_ENST00000540786.1_Frame_Shift_Del_p.A390fs|FOXA1_ENST00000545425.2_5'UTR NM_004496.3 NP_004487.2 P55317 FOXA1_HUMAN forkhead box A1 423 chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development transcription factor complex DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12) 19 Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213) Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239) GBM - Glioblastoma multiforme(112;0.0222) GTATTGCAGTGCCTGTTCGTA 0.612 12 66 --- --- --- ---