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 TLN2 83660 broad.mit.edu 37 15 63069044 63069044 + Missense_Mutation SNP G G A TCGA-E3-A3E5-01A-11D-A20C-08 TCGA-E3-A3E5-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4c3a335-7c74-45ed-8b36-50ce11f7ac8e 599a6a1a-9973-4054-acf4-d987bdda59c1 g.chr15:63069044G>A uc002alb.4 + 39 5449 c.5449G>A c.(5449-5451)Gaa>Aaa p.E1817K TLN2_uc002alc.4_Missense_Mutation_p.E210K|TLN2_uc002ald.3_Missense_Mutation_p.E210K NM_015059 NP_055874 Q9Y4G6 TLN2_HUMAN Homo sapiens talin 2 (TLN2), mRNA. 1817 cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5) 99 GACGCTGAACGAAGCTGCCAG 0.567000 3 84 0 0 1 0 0 PALM2-AKAP2 445815 broad.mit.edu 37 9 112705452 112705452 + Missense_Mutation SNP A A G TCGA-E3-A3E5-01A-11D-A20C-08 TCGA-E3-A3E5-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4c3a335-7c74-45ed-8b36-50ce11f7ac8e 599a6a1a-9973-4054-acf4-d987bdda59c1 g.chr9:112705452A>G uc004bei.2 + 6 1175 c.983A>G c.(982-984)aAg>aGg p.K328R PALM2-AKAP2_uc004beg.3_Missense_Mutation_p.K296R|PALM2-AKAP2_uc004beh.4_Missense_Mutation_p.K328R|PALM2-AKAP2_uc004bej.4_Intron|PALM2-AKAP2_uc004bek.4_Intron|PALM2-AKAP2_uc004bel.1_Intron NM_001136562 NP_001130034 Q9Y2D5 AKAP2_HUMAN Homo sapiens A kinase (PRKA) anchor protein 2 (AKAP2), transcript variant 2, mRNA. 0 enzyme binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 44 GAGACGAAAAAGGTGCTAGGC 0.498000 3 113 0 0 1 0 0 TCAP 8557 broad.mit.edu 37 17 37822184 37822184 + Missense_Mutation SNP C C T TCGA-E3-A3E5-01A-11D-A20C-08 TCGA-E3-A3E5-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4c3a335-7c74-45ed-8b36-50ce11f7ac8e 599a6a1a-9973-4054-acf4-d987bdda59c1 g.chr17:37822184C>T uc002hsh.3 + 1 340 c.326C>T c.(325-327)aCc>aTc p.T109I PNMT_uc002hsi.1_5'Flank NM_003673 NP_003664 O15273 TELT_HUMAN Homo sapiens titin-cap (telethonin) (TCAP), mRNA. 109 adult heart development|cardiac muscle contraction|cardiac muscle fiber development|cardiac muscle tissue morphogenesis|detection of mechanical stimulus|muscle filament sliding|response to stress|sarcomere organization|skeletal muscle contraction|skeletal muscle myosin thick filament assembly|skeletal muscle thin filament assembly Z disc|cytosol structural constituent of muscle|titin Z domain binding|titin binding kidney(1)|lung(1) 2 all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) CGTGAGGACACCCCCATCCAG 0.662000 17 15 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76464923 76464923 + Missense_Mutation SNP C C T TCGA-E3-A3E5-01A-11D-A20C-08 TCGA-E3-A3E5-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4c3a335-7c74-45ed-8b36-50ce11f7ac8e 599a6a1a-9973-4054-acf4-d987bdda59c1 g.chr17:76464923C>T uc010dhp.2 - 54 8679 c.8554G>A c.(8554-8556)Gtt>Att p.V2852I DNAH17_uc002jvs.3_Non-coding_Transcript NM_173628 NP_775899 Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA. NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) ACCGAGGGAACGTTCTTCACG 0.542000 3 77 0 0 1 0 0 TEK 7010 broad.mit.edu 37 9 27192585 27192585 + Missense_Mutation SNP C C G TCGA-E3-A3E5-01A-11D-A20C-08 TCGA-E3-A3E5-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4c3a335-7c74-45ed-8b36-50ce11f7ac8e 599a6a1a-9973-4054-acf4-d987bdda59c1 g.chr9:27192585C>G uc003zqi.4 + 10 2030 c.1588C>G c.(1588-1590)Cct>Gct p.P530A TEK_uc011lno.2_Missense_Mutation_p.P487A|TEK_uc011lnp.2_Missense_Mutation_p.P383A|TEK_uc003zqj.1_Missense_Mutation_p.P464A NM_000459 NP_000450 Q02763 TIE2_HUMAN Homo sapiens TEK tyrosine kinase, endothelial (TEK), mRNA. 530 Fibronectin type-III 1. angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3) 15 all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255) Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027) GGAAGGGCATCCTGGACCTGT 0.517000 4 113 0 0 1 0 0 ASCC3 10973 broad.mit.edu 37 6 101253689 101253689 + Missense_Mutation SNP A A G TCGA-E3-A3E5-01A-11D-A20C-08 TCGA-E3-A3E5-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4c3a335-7c74-45ed-8b36-50ce11f7ac8e 599a6a1a-9973-4054-acf4-d987bdda59c1 g.chr6:101253689A>G uc003pqk.3 - 4 1198 c.869T>C c.(868-870)aTt>aCt p.I290T ASCC3_uc011eai.1_Missense_Mutation_p.I192T|ASCC3_uc003pql.3_Missense_Mutation_p.I290T NM_006828 NP_006819 Q8N3C0 HELC1_HUMAN Homo sapiens activating signal cointegrator 1 complex subunit 3 (ASCC3), transcript variant 1, mRNA. 290 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 92 all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199) TCTATCCACAATTGTAATTCT 0.328000 21 20 0 0 1 0 0 CTNNB1 1499 broad.mit.edu 37 3 41280634 41280634 + Missense_Mutation SNP A A G TCGA-E3-A3E5-01A-11D-A20C-08 TCGA-E3-A3E5-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4c3a335-7c74-45ed-8b36-50ce11f7ac8e 599a6a1a-9973-4054-acf4-d987bdda59c1 g.chr3:41280634A>G uc010hia.1 + 15 2303 c.2147A>G c.(2146-2148)tAt>tGt p.Y716C CTNNB1_uc003ckq.2_Missense_Mutation_p.Y716C|CTNNB1_uc003ckp.2_Missense_Mutation_p.Y716C|CTNNB1_uc003ckr.2_Missense_Mutation_p.Y716C|CTNNB1_uc011azf.1_Missense_Mutation_p.Y709C|CTNNB1_uc011azg.1_Missense_Mutation_p.Y644C NM_001904 NP_001895 P35222 CTNB1_HUMAN Homo sapiens catenin (cadherin-associated protein), beta 1, 88kDa (CTNNB1), transcript variant 1, mRNA. 716 Schwann cell proliferation|T cell differentiation in thymus|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 I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|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 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 T cell proliferation|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|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|thymus development|trachea formation APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|Z disc|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|zonula adherens I-SMAD binding|R-SMAD binding|RPTP-like protein binding|alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|ion channel binding|protein C-terminus binding|protein binding|protein kinase binding|protein phosphatase binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding 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) GATCCTAGCTATCGTTCTTTT 0.493000 15 """H, Mis, T""" PLAG1 """colorectal, cvarian, hepatoblastoma, others, pleomorphic salivary adenoma""" Pilomatrixoma, Familial Clustering of 4 105 0 0 1 0 0 TEX15 56154 broad.mit.edu 37 8 30695491 30695491 + Missense_Mutation SNP T T C TCGA-E3-A3E5-01A-11D-A20C-08 TCGA-E3-A3E5-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4c3a335-7c74-45ed-8b36-50ce11f7ac8e 599a6a1a-9973-4054-acf4-d987bdda59c1 g.chr8:30695491T>C uc003xil.3 - 2 7160 c.7160A>G c.(7159-7161)aAg>aGg p.K2387R NM_031271 NP_112561 Q9BXT5 TEX15_HUMAN Homo sapiens testis expressed 15 (TEX15), mRNA. 2387 NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) CATTTCAACCTTTTTTGGCGT 0.388000 3 157 0 0 1 0 0 TMEM160 54958 broad.mit.edu 37 19 47549926 47549926 + Missense_Mutation SNP G G A TCGA-E3-A3E5-01A-11D-A20C-08 TCGA-E3-A3E5-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4c3a335-7c74-45ed-8b36-50ce11f7ac8e 599a6a1a-9973-4054-acf4-d987bdda59c1 g.chr19:47549926G>A uc002pfz.3 - 1 236 c.226C>T c.(226-228)Cgc>Tgc p.R76C NM_017854 NP_060324 Q9NX00 TM160_HUMAN Homo sapiens transmembrane protein 160 (TMEM160), mRNA. 76 integral to membrane lung(1) 1 all_cancers(25;8.13e-05)|all_lung(116;0.000901)|all_epithelial(76;0.00185)|Lung NSC(112;0.00215)|all_neural(266;0.0652)|Ovarian(192;0.15) all cancers(93;5.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;6.95e-05)|Epithelial(262;0.00363)|GBM - Glioblastoma multiforme(486;0.0242) AGGCCATTGCGGAACCAGGAG 0.612000 4 186 0 0 1 0 0 DYNC1I1 1780 broad.mit.edu 37 7 95664979 95664979 + Missense_Mutation SNP G G A TCGA-E3-A3E5-01A-11D-A20C-08 TCGA-E3-A3E5-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4c3a335-7c74-45ed-8b36-50ce11f7ac8e 599a6a1a-9973-4054-acf4-d987bdda59c1 g.chr7:95664979G>A uc003uoc.4 + 12 1607 c.1330G>A c.(1330-1332)Gga>Aga p.G444R DYNC1I1_uc003uod.4_Missense_Mutation_p.G427R|DYNC1I1_uc003uob.3_Missense_Mutation_p.G407R|DYNC1I1_uc003uoe.4_Missense_Mutation_p.G424R|DYNC1I1_uc010lfl.3_Missense_Mutation_p.G433R NM_004411 NP_004402 O14576 DC1I1_HUMAN Homo sapiens dynein, cytoplasmic 1, intermediate chain 1 (DYNC1I1), transcript variant 1, mRNA. 444 vesicle transport along microtubule condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle microtubule binding|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 54 all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191) STAD - Stomach adenocarcinoma(171;0.0957) CGCTGTTACCGGAATGGCTTT 0.493000 4 181 0 0 1 0 0 GAPVD1 26130 broad.mit.edu 37 9 128099547 128099547 + Missense_Mutation SNP C C T TCGA-E3-A3E5-01A-11D-A20C-08 TCGA-E3-A3E5-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4c3a335-7c74-45ed-8b36-50ce11f7ac8e 599a6a1a-9973-4054-acf4-d987bdda59c1 g.chr9:128099547C>T uc004bpp.3 + 15 2795 c.2635C>T c.(2635-2637)Cat>Tat p.H879Y GAPVD1_uc011lzs.1_Missense_Mutation_p.H852Y|GAPVD1_uc004bpq.3_Missense_Mutation_p.H852Y|GAPVD1_uc010mwx.3_Missense_Mutation_p.H852Y|GAPVD1_uc004bpr.3_Missense_Mutation_p.H831Y|GAPVD1_uc004bps.3_Missense_Mutation_p.H852Y|GAPVD1_uc010mwy.1_Missense_Mutation_p.H685Y NM_015635 NP_056450 Q14C86 GAPD1_HUMAN Homo sapiens GTPase activating protein and VPS9 domains 1 (GAPVD1), mRNA. 852 endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction cytosol|endosome|membrane GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity p.S878S(1) central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 TAGGCCATCGCATCCACCACC 0.478000 22 37 0 0 1 0 0 HEATR5B 54497 broad.mit.edu 37 2 37227778 37227778 + Silent SNP T T C TCGA-E3-A3E5-01A-11D-A20C-08 TCGA-E3-A3E5-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4c3a335-7c74-45ed-8b36-50ce11f7ac8e 599a6a1a-9973-4054-acf4-d987bdda59c1 g.chr2:37227778T>C uc002rpp.1 - 32 5592 c.5496A>G c.(5494-5496)acA>acG p.T1832T HEATR5B_uc010ezy.1_Silent_p.T327T NM_019024 NP_061897 Q9P2D3 HTR5B_HUMAN Homo sapiens HEAT repeat containing 5B (HEATR5B), mRNA. 1832 binding breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 77 all_hematologic(82;0.21) GAATCAGAGCTGTCCACTGTT 0.428000 53 98 0 0 1 0 0 XYLB 9942 broad.mit.edu 37 3 38420767 38420767 + Nonsense_Mutation SNP C C T TCGA-E3-A3E5-01A-11D-A20C-08 TCGA-E3-A3E5-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4c3a335-7c74-45ed-8b36-50ce11f7ac8e 599a6a1a-9973-4054-acf4-d987bdda59c1 g.chr3:38420767C>T uc003cic.2 + 14 1334 c.1225C>T c.(1225-1227)Cga>Tga p.R409* XYLB_uc011ayp.1_Nonsense_Mutation_p.R272*|XYLB_uc003cid.1_Nonsense_Mutation_p.R331* NM_005108 NP_005099 O75191 XYLB_HUMAN Homo sapiens xylulokinase homolog (H. influenzae) (XYLB), mRNA. 409 D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process ATP binding|xylulokinase activity endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1) 24 KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405) TGTGGAGGTTCGAGCACTAAT 0.527000 65 67 0 0 1 0 0 PTPRT 11122 broad.mit.edu 37 20 40739081 40739081 + Missense_Mutation SNP C C A TCGA-E3-A3E5-01A-11D-A20C-08 TCGA-E3-A3E5-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4c3a335-7c74-45ed-8b36-50ce11f7ac8e 599a6a1a-9973-4054-acf4-d987bdda59c1 g.chr20:40739081C>A uc010ggj.3 - 23 3387 c.3203G>T c.(3202-3204)aGc>aTc p.S1068I PTPRT_uc002xkg.3_Missense_Mutation_p.S1049I|PTPRT_uc010ggi.3_Missense_Mutation_p.S252I NM_133170 NP_573400 O14522 PTPRT_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 1, mRNA. 1049 Tyrosine-protein phosphatase 1. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) GTCAGGCCAGCTGGTGAAGTG 0.622000 3 67 0 0 1 0 0 HDLBP 3069 broad.mit.edu 37 2 242179484 242179484 + Missense_Mutation SNP G G C TCGA-E3-A3E5-01A-11D-A20C-08 TCGA-E3-A3E5-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4c3a335-7c74-45ed-8b36-50ce11f7ac8e 599a6a1a-9973-4054-acf4-d987bdda59c1 g.chr2:242179484G>C uc002wba.3 - 17 2456 c.2223C>G c.(2221-2223)ttC>ttG p.F741L HDLBP_uc002waz.3_Missense_Mutation_p.F741L|HDLBP_uc021vzg.1_Missense_Mutation_p.F708L NM_005336 NP_005327 Q00341 VIGLN_HUMAN Homo sapiens high density lipoprotein binding protein (HDLBP), transcript variant 1, mRNA. 741 KH 9. cholesterol metabolic process|lipid transport cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane RNA binding|lipid binding|protein binding breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928) TGCCGATGAGGAATTTGTGGT 0.557000 64 95 0 0 1 0 0 LAMC2 3918 broad.mit.edu 37 1 183208652 183208652 + Missense_Mutation SNP A A G TCGA-E3-A3E5-01A-11D-A20C-08 TCGA-E3-A3E5-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4c3a335-7c74-45ed-8b36-50ce11f7ac8e 599a6a1a-9973-4054-acf4-d987bdda59c1 g.chr1:183208652A>G uc001gqa.2 + 19 3337 c.3023A>G c.(3022-3024)aAg>aGg p.K1008R LAMC2_uc001gpz.4_Missense_Mutation_p.K1008R|LAMC2_uc010poa.2_Missense_Mutation_p.K708R NM_005562 NP_005553 Q13753 LAMC2_HUMAN Homo sapiens laminin, gamma 2 (LAMC2), transcript variant 1, mRNA. 1008 Domain II and I. cell adhesion|epidermis development|hemidesmosome assembly heparin binding breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 CAGAGGGCAAAGAATGGGGCC 0.542000 43 77 0 0 1 0 0 CFH 3075 broad.mit.edu 37 1 196883707 196883707 + Silent SNP C C T TCGA-E3-A3E5-01A-11D-A20C-08 TCGA-E3-A3E5-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4c3a335-7c74-45ed-8b36-50ce11f7ac8e 599a6a1a-9973-4054-acf4-d987bdda59c1 g.chr1:196883707C>T uc001gtp.3 + 7 1400 c.1263C>T c.(1261-1263)taC>taT p.Y421Y CFH_uc021pgt.1_Intron|CFH_uc009wyy.3_Silent_p.Y420Y|CFH_uc001gto.3_Silent_p.Y174Y NM_001201550 NP_001188479 P08603 CFAH_HUMAN Homo sapiens complement factor H-related 4 (CFHR4), transcript variant 1, mRNA. 779 Sushi 7. complement activation, alternative pathway extracellular space p.Y420Y(1) NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 101 CATTGGACTACGAATGCTACG 0.393000 5 107 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-E3-A3E5-01A-11D-A20C-08 TCGA-E3-A3E5-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4c3a335-7c74-45ed-8b36-50ce11f7ac8e 599a6a1a-9973-4054-acf4-d987bdda59c1 g.chr7:140453136A>T uc003vwc.4 - 14 1860 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 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(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(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 42 60 0 0 1 0 0 EIF3F 8665 broad.mit.edu 37 11 8015971 8015971 + Splice_Site SNP A A T TCGA-E3-A3E5-01A-11D-A20C-08 TCGA-E3-A3E5-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4c3a335-7c74-45ed-8b36-50ce11f7ac8e 599a6a1a-9973-4054-acf4-d987bdda59c1 g.chr11:8015971A>T uc001mfw.3 + 5 1109 c.654_splice c.e5-2 p.S218_splice EIF3F_uc010rbj.2_Splice_Site_p.S69_splice NM_003754 NP_003745 O00303 EIF3F_HUMAN Homo sapiens eukaryotic translation initiation factor 3, subunit F (EIF3F), mRNA. 218 cytosol|eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1) 13 Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) CTCCTTCCGCAGCACTTTAAT 0.512000 7 26 0 0 1 0 0 MMP16 4325 broad.mit.edu 37 8 89053760 89053760 + Missense_Mutation SNP A A T TCGA-E3-A3E5-01A-11D-A20C-08 TCGA-E3-A3E5-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4c3a335-7c74-45ed-8b36-50ce11f7ac8e 599a6a1a-9973-4054-acf4-d987bdda59c1 g.chr8:89053760A>T uc003yeb.4 - 9 2035 c.1753T>A c.(1753-1755)Ttc>Atc p.F585I NM_005941 NP_005932 P51512 MMP16_HUMAN Homo sapiens matrix metallopeptidase 16 (membrane-inserted) (MMP16), mRNA. 585 collagen catabolic process|proteolysis cell surface|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 81 TTGAACTGGAACACAGTGTAA 0.443000 4 119 0 0 1 0 0 MEP1A 4224 broad.mit.edu 37 6 46766859 46766859 + Missense_Mutation SNP T T C TCGA-E3-A3E5-01A-11D-A20C-08 TCGA-E3-A3E5-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4c3a335-7c74-45ed-8b36-50ce11f7ac8e 599a6a1a-9973-4054-acf4-d987bdda59c1 g.chr6:46766859T>C uc011dwh.1 + 3 295 c.287T>C c.(286-288)cTg>cCg p.L96P MEP1A_uc010jzh.1_Missense_Mutation_p.L68P|MEP1A_uc011dwg.1_5'UTR|MEP1A_uc011dwi.1_5'UTR NM_005588 NP_005579 Q16819 MEP1A_HUMAN Homo sapiens meprin A, alpha (PABA peptide hydrolase) (MEP1A), mRNA. 68 Metalloprotease. digestion|proteolysis extracellular space|integral to plasma membrane|soluble fraction metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 Lung(136;0.192) AGAAATGGCCTGAGAGACCCA 0.428000 3 126 0 0 1 0 0 LDHA 3939 broad.mit.edu 37 11 18421059 18421059 + Missense_Mutation SNP C C G TCGA-E3-A3E5-01A-11D-A20C-08 TCGA-E3-A3E5-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4c3a335-7c74-45ed-8b36-50ce11f7ac8e 599a6a1a-9973-4054-acf4-d987bdda59c1 g.chr11:18421059C>G uc010rdd.2 + 2 577 c.295C>G c.(295-297)Ctt>Gtt p.L99V LDHA_uc001mok.3_Missense_Mutation_p.L70V|LDHA_uc009yho.2_Intron|LDHA_uc001mol.3_Missense_Mutation_p.L70V|LDHA_uc010rdc.1_Missense_Mutation_p.L70V|LDHA_uc021qep.1_Missense_Mutation_p.L70V NM_001165414 NP_005557 P00338 LDHA_HUMAN Homo sapiens lactate dehydrogenase A (LDHA), transcript variant 3, mRNA. 70 glycolysis|pyruvate metabolic process cytosol L-lactate dehydrogenase activity|protein binding central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(4) 12 NADH(DB00157) ACATGGCAGCCTTTTCCTTAG 0.378000 52 79 0 0 1 0 0 ANKRD30B 374860 broad.mit.edu 37 18 14850291 14850291 + Silent SNP T T C TCGA-E3-A3E5-01A-11D-A20C-08 TCGA-E3-A3E5-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4c3a335-7c74-45ed-8b36-50ce11f7ac8e 599a6a1a-9973-4054-acf4-d987bdda59c1 g.chr18:14850291T>C uc010dlo.2 + 34 3297 c.3117T>C c.(3115-3117)ctT>ctC p.L1039L ANKRD30B_uc021uhy.1_Silent_p.L1039L|ANKRD30B_uc010xal.1_Silent_p.L181L NM_001145029 NP_001138501 Q9BXX2 AN30B_HUMAN Homo sapiens ankyrin repeat domain 30B (ANKRD30B), mRNA. 1124 breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1) 22 AAGAGCAACTTAGGAAAAAGT 0.294000 13 13 0 0 1 0 0 OAZ1 4946 broad.mit.edu 37 19 2272779 2272779 + Frame_Shift_Del DEL C C - TCGA-E3-A3E5-01A-11D-A20C-08 TCGA-E3-A3E5-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4c3a335-7c74-45ed-8b36-50ce11f7ac8e 599a6a1a-9973-4054-acf4-d987bdda59c1 g.chr19:2272779delC uc002lvk.3 + 4 588 c.510delC c.(508-510)gacfs p.D170fs OAZ1_uc002lvl.3_Non-coding_Transcript|SPPL2B_uc010dsw.1_Intron NM_004152 NP_004143 P54368 OAZ1_HUMAN Homo sapiens ornithine decarboxylase antizyme 1 (OAZ1), mRNA. 170 polyamine biosynthetic process|regulation of cellular amino acid metabolic process cytosol ornithine decarboxylase inhibitor activity endometrium(1)|lung(2) 3 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) L-Ornithine(DB00129) TGCGAGCCGACCATGTCTTCA 0.632 2 4 --- --- --- ---