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 LPHN2 23266 broad.mit.edu 37 1 82409004 82409004 + Missense_Mutation SNP A A G TCGA-EJ-5510-01A-01D-1576-08 TCGA-EJ-5510-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c55ec8be-cd73-4275-8407-5814a1fc51d5 96d81c6a-b658-42f7-8102-6ff08f9ba464 g.chr1:82409004A>G ENST00000370728.1 + 8 1394 c.749A>G c.(748-750)tAc>tGc p.Y250C LPHN2_ENST00000370721.1_Missense_Mutation_p.Y254C|LPHN2_ENST00000370723.1_Missense_Mutation_p.Y250C|LPHN2_ENST00000370713.1_Missense_Mutation_p.Y250C|LPHN2_ENST00000271029.4_Missense_Mutation_p.Y250C|LPHN2_ENST00000394879.1_Missense_Mutation_p.Y250C|LPHN2_ENST00000370717.2_Missense_Mutation_p.Y250C|LPHN2_ENST00000370730.1_Missense_Mutation_p.Y250C|LPHN2_ENST00000319517.6_Missense_Mutation_p.Y250C|LPHN2_ENST00000359929.3_Missense_Mutation_p.Y250C|LPHN2_ENST00000335786.5_Missense_Mutation_p.Y250C|LPHN2_ENST00000370715.1_Missense_Mutation_p.Y250C|LPHN2_ENST00000370727.1_Missense_Mutation_p.Y250C|LPHN2_ENST00000370725.1_Missense_Mutation_p.Y250C|LPHN2_ENST00000469377.2_Intron O95490 LPHN2_HUMAN latrophilin 2 250 Olfactomedin-like. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding p.Y250C(2) NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) TATGCCAACTACCATGATACC 0.403000 30 130 0 0 1 0 0 MCM6 4175 broad.mit.edu 37 2 136610460 136610460 + Missense_Mutation SNP C C T TCGA-EJ-5510-01A-01D-1576-08 TCGA-EJ-5510-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c55ec8be-cd73-4275-8407-5814a1fc51d5 96d81c6a-b658-42f7-8102-6ff08f9ba464 g.chr2:136610460C>T ENST00000264156.2 - 12 1712 c.1652G>A c.(1651-1653)cGc>cAc p.R551H MCM6_ENST00000492091.1_Intron NM_005915.5 NP_005906.2 Q14566 MCM6_HUMAN minichromosome maintenance complex component 6 551 MCM. cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle MCM complex ATP binding|identical protein binding p.R551H(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1) 29 BRCA - Breast invasive adenocarcinoma(221;0.166) Atorvastatin(DB01076) ATCTACTATGCGCCTGGCAAT 0.368000 23 112 0 0 1 0 0 HIF1A 3091 broad.mit.edu 37 14 62199180 62199180 + Missense_Mutation SNP G G A rs61755644 TCGA-EJ-5510-01A-01D-1576-08 TCGA-EJ-5510-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c55ec8be-cd73-4275-8407-5814a1fc51d5 96d81c6a-b658-42f7-8102-6ff08f9ba464 g.chr14:62199180G>A ENST00000394997.1 + 7 1086 c.821G>A c.(820-822)cGc>cAc p.R274H HIF1A_ENST00000539097.1_Missense_Mutation_p.R297H|HIF1A_ENST00000337138.4_Missense_Mutation_p.R273H|HIF1A_ENST00000557538.1_Missense_Mutation_p.R214H|HIF1A_ENST00000323441.6_Missense_Mutation_p.R273H|HIF1A-AS2_ENST00000554254.1_lincRNA Q16665 HIF1A_HUMAN hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor) 273 Interaction with TSGA10 (By similarity).|PAS 2. cellular response to hypoxia|collagen metabolic process|connective tissue replacement involved in inflammatory response wound healing|elastin metabolic process|epithelial to mesenchymal transition|oxygen homeostasis|positive regulation of chemokine production|positive regulation of epithelial cell migration|positive regulation of hormone biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|regulation of transforming growth factor-beta2 production cytoplasm|nucleolus|transcription factor complex histone acetyltransferase binding|Hsp90 protein binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4) 23 OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189) CTTTTAGGCCGCTCAATTTAT 0.323000 5 334 0 0 1 0 0 API5 8539 broad.mit.edu 37 11 43345105 43345105 + Silent SNP A A C TCGA-EJ-5510-01A-01D-1576-08 TCGA-EJ-5510-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c55ec8be-cd73-4275-8407-5814a1fc51d5 96d81c6a-b658-42f7-8102-6ff08f9ba464 g.chr11:43345105A>C ENST00000378852.3 + 6 794 c.669A>C c.(667-669)ctA>ctC p.L223L API5_ENST00000534695.1_Intron|API5_ENST00000420461.2_Silent_p.L169L|API5_ENST00000455725.2_Silent_p.L212L|API5_ENST00000534600.1_Silent_p.L223L|API5_ENST00000531273.1_Silent_p.L223L NM_001142930.1|NM_006595.3 NP_001136402.1|NP_006586.1 Q9BZZ5 API5_HUMAN apoptosis inhibitor 5 223 anti-apoptosis|apoptosis cytoplasm|spliceosomal complex fibroblast growth factor binding p.L223L(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1) 20 AGGCCGACCTAGAACAGACCT 0.463000 34 158 0 0 1 0 0 TM9SF2 9375 broad.mit.edu 37 13 100206634 100206634 + Missense_Mutation SNP C C T TCGA-EJ-5510-01A-01D-1576-08 TCGA-EJ-5510-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c55ec8be-cd73-4275-8407-5814a1fc51d5 96d81c6a-b658-42f7-8102-6ff08f9ba464 g.chr13:100206634C>T ENST00000376387.4 + 14 1755 c.1565C>T c.(1564-1566)cCt>cTt p.P522L NM_004800.1 NP_004791.1 Q99805 TM9S2_HUMAN transmembrane 9 superfamily member 2 522 transport endosome membrane|integral to plasma membrane p.P522L(1) endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2) 17 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218) AAGCCCTTGCCTGGTATTATC 0.418000 43 154 0 0 1 0 0 MED12 9968 broad.mit.edu 37 X 70349258 70349258 + Missense_Mutation SNP C C T TCGA-EJ-5510-01A-01D-1576-08 TCGA-EJ-5510-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c55ec8be-cd73-4275-8407-5814a1fc51d5 96d81c6a-b658-42f7-8102-6ff08f9ba464 g.chrX:70349258C>T ENST00000333646.6 + 26 3869 c.3670C>T c.(3670-3672)Ctc>Ttc p.L1224F MED12_ENST00000374102.1_Missense_Mutation_p.L1224F|MED12_ENST00000374080.3_Missense_Mutation_p.L1224F NM_005120.2 NP_005111.2 Q93074 MED12_HUMAN mediator complex subunit 12 1224 androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding p.L1224F(10)|p.V1223>?(2)|p.L1224V(2) breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3) 420 Renal(35;0.156) GTTTGCTGTTCTCAAGGCTGT 0.562000 """M, S""" uterine leiomyoma Opitz-Kaveggia Syndrome OREG0019857 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 34 0 0 1 0 0 TSC1 0 broad.mit.edu 37 9 135780989 135780989 + Missense_Mutation SNP G G A rs118203609 TCGA-EJ-5510-01A-01D-1576-08 TCGA-EJ-5510-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c55ec8be-cd73-4275-8407-5814a1fc51d5 96d81c6a-b658-42f7-8102-6ff08f9ba464 g.chr9:135780989G>A ENST00000298552.3 - 15 2197 c.1976C>T c.(1975-1977)gCg>gTg p.A659V TSC1_ENST00000545250.1_Missense_Mutation_p.A608V|TSC1_ENST00000440111.2_Missense_Mutation_p.A659V NM_000368.4|NM_001162426.1|NM_001162427.1 NP_000359.1|NP_001155898.1|NP_001155899.1 Q92574 TSC1_HUMAN tuberous sclerosis 1 659 activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus cell cortex|lamellipodium|membrane|TSC1-TSC2 complex chaperone binding|protein N-terminus binding p.?(1) NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 65 OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06) CTTGCTGTGCGCGTCTGCTCC 0.478000 """D, Mis, N, F, S""" """hamartoma, renal cell""" Tuberous Sclerosis 5 230 0 0 1 0 0 ADRA2A 150 broad.mit.edu 37 10 112838922 112838922 + Missense_Mutation SNP G G T TCGA-EJ-5510-01A-01D-1576-08 TCGA-EJ-5510-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c55ec8be-cd73-4275-8407-5814a1fc51d5 96d81c6a-b658-42f7-8102-6ff08f9ba464 g.chr10:112838922G>T ENST00000280155.2 + 1 2133 c.1168G>T c.(1168-1170)Gtg>Ttg p.V390L NM_000681.3 NP_000672.3 P08913 ADA2A_HUMAN adrenoceptor alpha 2A 375 actin cytoskeleton organization|activation of MAPK activity by adrenergic receptor signaling pathway|activation of phospholipase C activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cellular component movement|cellular response to hormone stimulus|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|glucose homeostasis|inhibition of adenylate cyclase activity by adrenergic receptor signaling pathway|intestinal absorption|negative regulation of adrenergic receptor signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cAMP biosynthetic process|negative regulation of epinephrine secretion|negative regulation of insulin secretion involved in cellular response to glucose stimulus|negative regulation of lipid catabolic process|negative regulation of norepinephrine secretion|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cytokine production|positive regulation of membrane protein ectodomain proteolysis|positive regulation of potassium ion transport|positive regulation of wound healing|Rho protein signal transduction basolateral plasma membrane|cytoplasm|integral to plasma membrane|receptor complex alpha-1B adrenergic receptor binding|alpha-2C adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|heterotrimeric G-protein binding|norepinephrine binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|thioesterase binding p.V375L(1) breast(1)|cervix(3)|endometrium(6)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Breast(234;0.0735)|Lung NSC(174;0.238) Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118) Amitriptyline(DB00321)|Amphetamine(DB00182)|Apraclonidine(DB00964)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Clonidine(DB00575)|Debrisoquin(DB04840)|Dexmedetomidine(DB00633)|Dipivefrin(DB00449)|Epinastine(DB00751)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Lofexidine(DB04948)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Oxymetazoline(DB00935)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Tizanidine(DB00697)|Trazodone(DB00656)|Yohimbine(DB01392) CTTCACGTTCGTGCTGGCCGT 0.697000 20 51 9.95505e-16 1.12649e-15 1 1 0 DYRK1A 1859 broad.mit.edu 37 21 38858790 38858790 + Missense_Mutation SNP G G A TCGA-EJ-5510-01A-01D-1576-08 TCGA-EJ-5510-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c55ec8be-cd73-4275-8407-5814a1fc51d5 96d81c6a-b658-42f7-8102-6ff08f9ba464 g.chr21:38858790G>A ENST00000339659.3 + 5 1981 c.511G>A c.(511-513)Gtg>Atg p.V171M DYRK1A_ENST00000338785.3_Missense_Mutation_p.V180M|DYRK1A_ENST00000321219.8_Missense_Mutation_p.V180M|DYRK1A_ENST00000451934.1_Missense_Mutation_p.V180M|DYRK1A_ENST00000398956.2_Missense_Mutation_p.V180M|DYRK1A_ENST00000398960.2_Missense_Mutation_p.V180M NM_130436.2 NP_569120.1 Q13627 DYR1A_HUMAN dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A 180 Protein kinase. nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation nuclear speck ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity p.V180M(1) breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 ATATGATCGTGTGGAGCAAGA 0.308000 36 167 0 0 1 0 0 MYO16 23026 broad.mit.edu 37 13 109779876 109779876 + Silent SNP G G A TCGA-EJ-5510-01A-01D-1576-08 TCGA-EJ-5510-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c55ec8be-cd73-4275-8407-5814a1fc51d5 96d81c6a-b658-42f7-8102-6ff08f9ba464 g.chr13:109779876G>A ENST00000356711.2 + 31 4089 c.3963G>A c.(3961-3963)gcG>gcA p.A1321A MYO16_ENST00000457511.2_Silent_p.A833A|MYO16_ENST00000357550.2_Silent_p.A1321A NM_015011.1 NP_055826.1 Q9Y6X6 MYO16_HUMAN myosin XVI 1321 cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity p.A1321A(1) NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 121 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) GCCTCTCCGCGGCCAGGGAAG 0.687000 3 23 0 0 1 0 0 CCDC7 221016 broad.mit.edu 37 10 32856779 32856779 + Missense_Mutation SNP G G T TCGA-EJ-5510-01A-01D-1576-08 TCGA-EJ-5510-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c55ec8be-cd73-4275-8407-5814a1fc51d5 96d81c6a-b658-42f7-8102-6ff08f9ba464 g.chr10:32856779G>T ENST00000362006.5 + 16 1922 c.1379G>T c.(1378-1380)gGt>gTt p.G460V C10orf68_ENST00000375028.3_5'UTR|C10orf68_ENST00000375030.2_5'UTR|C10orf68_ENST00000572165.1_3'UTR|CCDC7_ENST00000277657.6_Missense_Mutation_p.G460V NM_145023.4 NP_659460.3 Q96M83 CCDC7_HUMAN coiled-coil domain containing 7 460 p.G460V(1) NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2) 14 Breast(68;0.000207)|Prostate(175;0.0107) TCAGATTCAGGTGGACAAAGG 0.328000 9 89 4.36969e-10 4.69742e-10 1 1 0 ADAMTS9 56999 broad.mit.edu 37 3 64554181 64554181 + Nonsense_Mutation SNP G G A TCGA-EJ-5510-01A-01D-1576-08 TCGA-EJ-5510-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c55ec8be-cd73-4275-8407-5814a1fc51d5 96d81c6a-b658-42f7-8102-6ff08f9ba464 g.chr3:64554181G>A ENST00000498707.1 - 29 4729 c.4387C>T c.(4387-4389)Caa>Taa p.Q1463* ADAMTS9-AS1_ENST00000470447.1_RNA|ADAMTS9_ENST00000295903.4_Nonsense_Mutation_p.Q1435*|ADAMTS9-AS1_ENST00000474313.1_RNA|ADAMTS9-AS1_ENST00000493124.1_RNA|ADAMTS9-AS1_ENST00000594810.1_RNA|ADAMTS9-AS1_ENST00000492209.1_RNA NM_182920.1 NP_891550.1 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 9 1463 TSP type-1 11. glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.Q1463*(1) breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 100 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) ACATTTCGTTGTTTATGCCCT 0.428000 32 153 0 0 1 0 0 OR2B2 81697 broad.mit.edu 37 6 27879450 27879450 + Silent SNP T T G rs147063988 by1000genomes TCGA-EJ-5510-01A-01D-1576-08 TCGA-EJ-5510-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c55ec8be-cd73-4275-8407-5814a1fc51d5 96d81c6a-b658-42f7-8102-6ff08f9ba464 g.chr6:27879450T>G ENST00000303324.2 - 1 724 c.648A>C c.(646-648)atA>atC p.I216I NM_033057.2 NP_149046.2 Q9GZK3 OR2B2_HUMAN olfactory receptor, family 2, subfamily B, member 2 216 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.I216I(1) cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1) 22 AAGCATACGATATAAGGATGA 0.443000 6 169 0 0 1 0 0 KRT78 196374 broad.mit.edu 37 12 53238473 53238473 + Missense_Mutation SNP G G A TCGA-EJ-5510-01A-01D-1576-08 TCGA-EJ-5510-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c55ec8be-cd73-4275-8407-5814a1fc51d5 96d81c6a-b658-42f7-8102-6ff08f9ba464 g.chr12:53238473G>A ENST00000359499.4 - 5 472 c.461C>T c.(460-462)aCg>aTg p.T154M KRT78_ENST00000304620.4_Missense_Mutation_p.T264M Q8N1N4 K2C78_HUMAN keratin 78 264 Linker 1.|Rod. keratin filament protein binding|structural molecule activity p.T264M(2) endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 18 CACCACAGACGTGTCGCTGGC 0.622000 15 77 0 0 1 0 0 GSK3A 2931 broad.mit.edu 37 19 42736723 42736723 + Missense_Mutation SNP C C A TCGA-EJ-5510-01A-01D-1576-08 TCGA-EJ-5510-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c55ec8be-cd73-4275-8407-5814a1fc51d5 96d81c6a-b658-42f7-8102-6ff08f9ba464 g.chr19:42736723C>A ENST00000398249.4 - 8 2677 c.964G>T c.(964-966)Gat>Tat p.D322Y GSK3A_ENST00000222330.3_Missense_Mutation_p.D404Y P49840 GSK3A_HUMAN glycogen synthase kinase 3 alpha 404 Protein kinase. insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of insulin receptor signaling pathway|negative regulation of transferase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process beta-catenin destruction complex|cytosol ATP binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|tau-protein kinase activity p.D404Y(2) endometrium(3)|large_intestine(3)|lung(6)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1) 19 Prostate(69;0.00682) CGCAGTTCATCAAAGAAGCTG 0.602000 3 72 1 1 1 1 0 ZCCHC12 170261 broad.mit.edu 37 X 117959282 117959282 + Missense_Mutation SNP G G A TCGA-EJ-5510-01A-01D-1576-08 TCGA-EJ-5510-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c55ec8be-cd73-4275-8407-5814a1fc51d5 96d81c6a-b658-42f7-8102-6ff08f9ba464 g.chrX:117959282G>A ENST00000310164.2 + 4 582 c.75G>A c.(73-75)atG>atA p.M25I NM_173798.2 NP_776159.1 Q6PEW1 ZCH12_HUMAN zinc finger, CCHC domain containing 12 25 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleic acid binding|zinc ion binding p.M25I(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2) 22 CCCATTCCATGCTGAGGTCCC 0.572000 25 46 0 0 1 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43777766 43777766 + Silent SNP A A G TCGA-EJ-5510-01A-01D-1576-08 TCGA-EJ-5510-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c55ec8be-cd73-4275-8407-5814a1fc51d5 96d81c6a-b658-42f7-8102-6ff08f9ba464 g.chr12:43777766A>G ENST00000389420.3 - 30 4466 c.4467T>C c.(4465-4467)tgT>tgC p.C1489C NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 1489 TSP type-1 12. proteinaceous extracellular matrix zinc ion binding p.C1489C(2)|p.S1489S(1) breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) CTCCAGAGCCACAGGTCACAG 0.413000 4 56 0 0 1 0 0 WRN 7486 broad.mit.edu 37 8 30958414 30958414 + Silent SNP G G A TCGA-EJ-5510-01A-01D-1576-08 TCGA-EJ-5510-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c55ec8be-cd73-4275-8407-5814a1fc51d5 96d81c6a-b658-42f7-8102-6ff08f9ba464 g.chr8:30958414G>A ENST00000298139.5 + 18 2280 c.2031G>A c.(2029-2031)ggG>ggA p.G677G NM_000553.4 NP_000544.2 Q14191 WRN_HUMAN Werner syndrome, RecQ helicase-like 677 Helicase ATP-binding. base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance centrosome|nucleolus|nucleoplasm 3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3) 60 Breast(100;0.195) KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192) CTGAGTGGGGGCATGATTTTA 0.408000 """Mis, N, F, S""" """osteosarcoma, meningioma, others""" Genes defective in diseases associated with sensitivity to DNA damaging agents Werner syndrome 3 65 0 0 1 0 0 TMEM246 84302 broad.mit.edu 37 9 104239189 104239189 + Missense_Mutation SNP G G T TCGA-EJ-5510-01A-01D-1576-08 TCGA-EJ-5510-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c55ec8be-cd73-4275-8407-5814a1fc51d5 96d81c6a-b658-42f7-8102-6ff08f9ba464 g.chr9:104239189G>T ENST00000374851.1 - 4 1333 c.186C>A c.(184-186)agC>agA p.S62R TMEM246_ENST00000374848.3_Missense_Mutation_p.S62R|RP11-490D19.6_ENST00000450109.1_RNA|RP11-490D19.6_ENST00000431507.1_RNA|RP11-490D19.6_ENST00000425734.1_RNA|TMEM246_ENST00000374847.1_Missense_Mutation_p.S62R|RP11-490D19.6_ENST00000424154.1_RNA Q9BRR3 CI125_HUMAN transmembrane protein 246 62 integral to membrane p.S62R(2) GGAACTCTTGGCTCATTTGGT 0.547000 30 91 1.75199e-13 1.93168e-13 1 1 0 LINC00518 0 broad.mit.edu 37 6 10430010 10430010 + RNA SNP G G A TCGA-EJ-5510-01A-01D-1576-08 TCGA-EJ-5510-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c55ec8be-cd73-4275-8407-5814a1fc51d5 96d81c6a-b658-42f7-8102-6ff08f9ba464 g.chr6:10430010G>A ENST00000496285.1 - 0 1025 NR_027793.1 GTAGAGGCTAGAACTGGAATT 0.368000 OREG0017184 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 18 0 0 1 0 0 FAM47B 170062 broad.mit.edu 37 X 34962848 34962848 + Missense_Mutation SNP T T C TCGA-EJ-5510-01A-01D-1576-08 TCGA-EJ-5510-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c55ec8be-cd73-4275-8407-5814a1fc51d5 96d81c6a-b658-42f7-8102-6ff08f9ba464 g.chrX:34962848T>C ENST00000329357.5 + 1 1936 c.1900T>C c.(1900-1902)Tac>Cac p.Y634H NM_152631.2 NP_689844.2 Q8NA70 FA47B_HUMAN family with sequence similarity 47, member B 634 breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 71 AGTTTACAAGTACAAAGAAGA 0.388000 3 179 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664606 22664606 + RNA SNP A A G TCGA-EJ-5510-01A-01D-1576-08 TCGA-EJ-5510-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c55ec8be-cd73-4275-8407-5814a1fc51d5 96d81c6a-b658-42f7-8102-6ff08f9ba464 g.chr22:22664606A>G ENST00000426066.1 + 0 787 NR_027293.1 GTCTTCATGCAAACTTGGTAT 0.398000 3 33 0 0 1 0 0 C10orf68 79741 broad.mit.edu 37 10 32856778 32856778 + Translation_Start_Site SNP G G A TCGA-EJ-5510-01A-01D-1576-08 TCGA-EJ-5510-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c55ec8be-cd73-4275-8407-5814a1fc51d5 96d81c6a-b658-42f7-8102-6ff08f9ba464 g.chr10:32856778G>A ENST00000375028.3 + 0 15 C10orf68_ENST00000375030.2_De_novo_Start_InFrame|CCDC7_ENST00000362006.5_Missense_Mutation_p.G460S|C10orf68_ENST00000572165.1_3'UTR|CCDC7_ENST00000277657.6_Missense_Mutation_p.G460S Q9H943 CJ068_HUMAN chromosome 10 open reading frame 68 p.G460S(1) breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4) 29 TTCAGATTCAGGTGGACAAAG 0.328000 9 89 0 0 1 0 0 CIT 11113 broad.mit.edu 37 12 120150460 120150460 + Silent SNP G G T TCGA-EJ-5510-01A-01D-1576-08 TCGA-EJ-5510-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c55ec8be-cd73-4275-8407-5814a1fc51d5 96d81c6a-b658-42f7-8102-6ff08f9ba464 g.chr12:120150460G>T ENST00000392521.2 - 36 4675 c.4620C>A c.(4618-4620)ccC>ccA p.P1540P CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Silent_p.P1498P NM_001206999.1 NP_001193928.1 O14578 CTRO_HUMAN citron (rho-interacting, serine/threonine kinase 21) 1498 PH. intracellular signal transduction ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity p.P1526P(1)|p.P1498P(1) breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 86 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(302;0.211) CATCCCCGTCGGGAAGGCACA 0.547000 4 113 1 1 1 1 0 TEKT1 83659 broad.mit.edu 37 17 6716186 6716186 + Missense_Mutation SNP C C G TCGA-EJ-5510-01A-01D-1576-08 TCGA-EJ-5510-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c55ec8be-cd73-4275-8407-5814a1fc51d5 96d81c6a-b658-42f7-8102-6ff08f9ba464 g.chr17:6716186C>G ENST00000338694.2 - 6 945 c.816G>C c.(814-816)aaG>aaC p.K272N TEKT1_ENST00000535086.1_Missense_Mutation_p.K126N NM_053285.1 NP_444515.1 Q969V4 TEKT1_HUMAN tektin 1 272 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule p.K272N(1) NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1) 20 Myeloproliferative disorder(207;0.0255) CCCTGGCATCCTTTGTATCCT 0.527000 32 158 0 0 1 0 0 COL11A2 1302 broad.mit.edu 37 6 33138676 33138676 + Missense_Mutation SNP C C T TCGA-EJ-5510-01A-01D-1576-08 TCGA-EJ-5510-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c55ec8be-cd73-4275-8407-5814a1fc51d5 96d81c6a-b658-42f7-8102-6ff08f9ba464 g.chr6:33138676C>T ENST00000341947.2 - 46 3612 c.3385G>A c.(3385-3387)Gga>Aga p.G1129R COL11A2_ENST00000374708.4_Missense_Mutation_p.G1043R|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374713.1_Missense_Mutation_p.G1082R|COL11A2_ENST00000357486.1_Missense_Mutation_p.G1108R|COL11A2_ENST00000395197.1_Missense_Mutation_p.G1069R|COL11A2_ENST00000374712.1_Missense_Mutation_p.G1048R|COL11A2_ENST00000374714.1_Missense_Mutation_p.G1103R|COL11A2_ENST00000361917.1_Missense_Mutation_p.G1022R NM_080680.2 NP_542411.2 P13942 COBA2_HUMAN collagen, type XI, alpha 2 1129 Triple-helical region. EPGARGP -> GAGGLGT (in Ref. 6; AAA52034). cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging p.G1129R(1) biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6) 68 CCCCGAGCTCCGGGCTCCCCA 0.577000 8 141 0 0 1 0 0 CARD16 114769 broad.mit.edu 37 11 104915235 104915235 + Missense_Mutation SNP T T G TCGA-EJ-5510-01A-01D-1576-08 TCGA-EJ-5510-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c55ec8be-cd73-4275-8407-5814a1fc51d5 96d81c6a-b658-42f7-8102-6ff08f9ba464 g.chr11:104915235T>G ENST00000375706.2 - 2 175 c.158A>C c.(157-159)aAg>aCg p.K53T CARD16_ENST00000525374.1_Missense_Mutation_p.K53T|CARD16_ENST00000375704.3_Missense_Mutation_p.K53T|CASP1_ENST00000598974.1_Intron|CASP1_ENST00000594519.1_Intron|CASP1_ENST00000593315.1_Intron|CASP1_ENST00000415981.2_Intron NM_001017534.1 NP_001017534.1 caspase recruitment domain family, member 16 p.K53T(1) endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1) 11 AGCTCGGGTCTTATCCATAAC 0.428000 96 447 0 0 1 0 0 SHANK2 22941 broad.mit.edu 37 11 70319095 70319095 + Missense_Mutation SNP T T C TCGA-EJ-5510-01A-01D-1576-08 TCGA-EJ-5510-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c55ec8be-cd73-4275-8407-5814a1fc51d5 96d81c6a-b658-42f7-8102-6ff08f9ba464 g.chr11:70319095T>C ENST00000338508.4 - 33 5431 c.5432A>G c.(5431-5433)aAt>aGt p.N1811S SHANK2_ENST00000409161.1_Missense_Mutation_p.N1214S|SHANK2_ENST00000423696.2_Missense_Mutation_p.N1431S|SHANK2_ENST00000449833.2_Missense_Mutation_p.N1215S Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 1431 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding p.N1811S(1)|p.N1215S(1) NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) ATCGATCTCATTGTCCATGAA 0.478000 55 245 0 0 1 0 0 KIAA1109 84162 broad.mit.edu 37 4 123274248 123274248 + Missense_Mutation SNP T T C TCGA-EJ-5510-01A-01D-1576-08 TCGA-EJ-5510-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c55ec8be-cd73-4275-8407-5814a1fc51d5 96d81c6a-b658-42f7-8102-6ff08f9ba464 g.chr4:123274248T>C ENST00000264501.4 + 81 14412 c.14039T>C c.(14038-14040)cTt>cCt p.L4680P KIAA1109_ENST00000388738.3_Missense_Mutation_p.L4680P Q2LD37 K1109_HUMAN KIAA1109 4680 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 TCTTGGGCCCTTTTTCATTTA 0.373000 3 182 0 0 1 0 0 FREM2 341640 broad.mit.edu 37 13 39357242 39357242 + Missense_Mutation SNP G G A TCGA-EJ-5510-01A-01D-1576-08 TCGA-EJ-5510-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c55ec8be-cd73-4275-8407-5814a1fc51d5 96d81c6a-b658-42f7-8102-6ff08f9ba464 g.chr13:39357242G>A ENST00000280481.7 + 5 5893 c.5677G>A c.(5677-5679)Gtt>Att p.V1893I NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 1893 Calx-beta 2. cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding p.V1893I(1) NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) CAAATACTCCGTTGAAGAAGA 0.438000 58 205 0 0 1 0 0 FAM47C 442444 broad.mit.edu 37 X 37027785 37027785 + Silent SNP C C T TCGA-EJ-5510-01A-01D-1576-08 TCGA-EJ-5510-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c55ec8be-cd73-4275-8407-5814a1fc51d5 96d81c6a-b658-42f7-8102-6ff08f9ba464 g.chrX:37027785C>T ENST00000358047.3 + 1 1354 c.1302C>T c.(1300-1302)cgC>cgT p.R434R NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 434 p.R434R(2) breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 CCAAGACTCGCGGATCTCATC 0.617000 28 33 0 0 1 0 0 ANXA6 309 broad.mit.edu 37 5 150509002 150509002 + Missense_Mutation SNP G G T TCGA-EJ-5510-01A-01D-1576-08 TCGA-EJ-5510-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c55ec8be-cd73-4275-8407-5814a1fc51d5 96d81c6a-b658-42f7-8102-6ff08f9ba464 g.chr5:150509002G>T ENST00000354546.5 - 12 1111 c.884C>A c.(883-885)aCc>aAc p.T295N ANXA6_ENST00000377751.5_Intron|ANXA6_ENST00000523714.1_Missense_Mutation_p.T263N|ANXA6_ENST00000356496.5_Missense_Mutation_p.T295N|ANXA6_ENST00000521512.1_Missense_Mutation_p.T88N NM_001155.4 NP_001146.2 P08133 ANXA6_HUMAN annexin A6 295 melanosome calcium ion binding|calcium-dependent phospholipid binding|protein binding endometrium(2)|kidney(1)|lung(9) 12 Medulloblastoma(196;0.0912)|all_hematologic(541;0.208) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CTCATACTTGGTCCGGAAGAT 0.557000 7 54 2.0095e-06 2.10752e-06 1 1 0 NEK7 140609 broad.mit.edu 37 1 198233329 198233329 + Silent SNP A A G TCGA-EJ-5510-01A-01D-1576-08 TCGA-EJ-5510-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c55ec8be-cd73-4275-8407-5814a1fc51d5 96d81c6a-b658-42f7-8102-6ff08f9ba464 g.chr1:198233329A>G ENST00000367385.4 + 5 678 c.336A>G c.(334-336)gaA>gaG p.E112E NEK7_ENST00000538004.1_Silent_p.E112E NM_133494.2 NP_598001.1 Q8TDX7 NEK7_HUMAN NIMA-related kinase 7 112 Protein kinase. cytoplasm ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.E112E(1) endometrium(3)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 21 TAGTTTTGGAACTAGCAGATG 0.299000 25 201 0 0 1 0 0 FBXO18 84893 broad.mit.edu 37 10 5979235 5979235 + Missense_Mutation SNP G G A TCGA-EJ-5510-01A-01D-1576-08 TCGA-EJ-5510-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c55ec8be-cd73-4275-8407-5814a1fc51d5 96d81c6a-b658-42f7-8102-6ff08f9ba464 g.chr10:5979235G>A ENST00000379999.5 + 22 3381 c.3277G>A c.(3277-3279)Gtc>Atc p.V1093I FBXO18_ENST00000379994.1_3'UTR|FBXO18_ENST00000362091.4_Missense_Mutation_p.V1042I|FBXO18_ENST00000397269.3_Missense_Mutation_p.V546I|RP11-536K7.3_ENST00000397264.3_RNA NM_032807.4 NP_116196.3 Q8NFZ0 FBX18_HUMAN F-box protein, helicase, 18 1042 DNA repair nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding p.V1093I(2) NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1) 40 GCTCTTCCTCGTCTTCTGAGG 0.657000 3 22 0 0 1 0 0 SLC22A15 55356 broad.mit.edu 37 1 116574076 116574076 + Missense_Mutation SNP G G A TCGA-EJ-5510-01A-01D-1576-08 TCGA-EJ-5510-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c55ec8be-cd73-4275-8407-5814a1fc51d5 96d81c6a-b658-42f7-8102-6ff08f9ba464 g.chr1:116574076G>A ENST00000369503.4 + 6 948 c.818G>A c.(817-819)cGc>cAc p.R273H SLC22A15_ENST00000369502.1_3'UTR NM_018420.2 NP_060890.2 Q8IZD6 S22AF_HUMAN solute carrier family 22, member 15 273 ion transport integral to membrane transmembrane transporter activity endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1) 17 Lung SC(450;0.184) all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05) Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12) AAGAGGAACCGCAAACTCAAG 0.512000 4 163 0 0 1 0 0 ATXN7 6314 broad.mit.edu 37 3 63898514 63898514 + Silent SNP G G A TCGA-EJ-5510-01A-01D-1576-08 TCGA-EJ-5510-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c55ec8be-cd73-4275-8407-5814a1fc51d5 96d81c6a-b658-42f7-8102-6ff08f9ba464 g.chr3:63898514G>A ENST00000398590.3 + 3 793 c.240G>A c.(238-240)gaG>gaA p.E80E ATXN7_ENST00000487717.1_Silent_p.E80E|ATXN7_ENST00000295900.6_Silent_p.E80E|ATXN7_ENST00000538065.1_Silent_p.E80E NM_001177387.1 NP_001170858.1 O15265 ATX7_HUMAN ataxin 7 80 cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception cytoplasm|nuclear matrix|nucleolus protein binding|zinc ion binding p.E80E(2) NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3) 35 Prostate(884;0.0181) BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305) CGGTCGGGGAGCGCAGGCCTC 0.711000 6 29 0 0 1 0 0 BTN2A3P 0 broad.mit.edu 37 6 26428149 26428149 + RNA SNP A A G TCGA-EJ-5510-01A-01D-1576-08 TCGA-EJ-5510-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c55ec8be-cd73-4275-8407-5814a1fc51d5 96d81c6a-b658-42f7-8102-6ff08f9ba464 g.chr6:26428149A>G ENST00000466808.2 + 0 1118 p.M253V(1) GCCTGTTATCATGATTATTCT 0.428000 67 236 0 0 1 0 0 RPLP0 6175 broad.mit.edu 37 12 120635152 120635152 + Silent SNP C C T TCGA-EJ-5510-01A-01D-1576-08 TCGA-EJ-5510-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c55ec8be-cd73-4275-8407-5814a1fc51d5 96d81c6a-b658-42f7-8102-6ff08f9ba464 g.chr12:120635152C>T ENST00000551150.1 - 6 1080 c.765G>A c.(763-765)acG>acA p.T255T RPLP0_ENST00000392514.4_Silent_p.T255T|RPLP0_ENST00000546989.1_Silent_p.T219T|RPLP0_ENST00000552292.1_Silent_p.T45T|RPLP0_ENST00000313104.5_Silent_p.T193T|RPLP0_ENST00000228306.4_Silent_p.T255T P05388 RLA0_HUMAN ribosomal protein, large, P0 255 endocrine pancreas development|interspecies interaction between organisms|ribosome biogenesis|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleus protein binding|RNA binding|structural constituent of ribosome p.T255T(2) breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1) 15 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) AGGTGTAATCCGTCTCCACAG 0.507000 17 79 0 0 1 0 0 PROX1-AS1 0 broad.mit.edu 37 1 214058323 214058324 + RNA INS - - CACG rs72119059 TCGA-EJ-5510-01A-01D-1576-08 TCGA-EJ-5510-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c55ec8be-cd73-4275-8407-5814a1fc51d5 96d81c6a-b658-42f7-8102-6ff08f9ba464 g.chr1:214058323_214058324insCACG ENST00000433082.2 - 0 401 PROX1-AS1_ENST00000601907.1_RNA|PROX1-AS1_ENST00000593620.1_RNA|PROX1-AS1_ENST00000601744.1_RNA|PROX1-AS1_ENST00000600591.1_RNA|PROX1-AS1_ENST00000413560.1_RNA|PROX1-AS1_ENST00000598105.1_RNA acacatgcacacacacacacac 0.441 2 4 --- --- --- --- LINC00882 0 broad.mit.edu 37 3 106824708 106824709 + RNA DEL TC TC - rs139188639 TCGA-EJ-5510-01A-01D-1576-08 TCGA-EJ-5510-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c55ec8be-cd73-4275-8407-5814a1fc51d5 96d81c6a-b658-42f7-8102-6ff08f9ba464 g.chr3:106824708_106824709delTC ENST00000484698.1 - 0 295 TGtttttatatctttttttttt 0.441 2 4 --- --- --- --- LURAP1L 286343 broad.mit.edu 37 9 12775861 12775862 + In_Frame_Ins INS - - GGCGGCGGC rs3833707 by1000genomes TCGA-EJ-5510-01A-01D-1576-08 TCGA-EJ-5510-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c55ec8be-cd73-4275-8407-5814a1fc51d5 96d81c6a-b658-42f7-8102-6ff08f9ba464 g.chr9:12775861_12775862insGGCGGCGGC ENST00000319264.3 + 1 842_843 c.147_148insGGCGGCGGC c.(145-150)gggcgg>ggGGCGGCGGCgcgg p.49_50GR>GAAAR RP11-3L8.3_ENST00000417638.1_RNA|LURAP1L_ENST00000489107.1_3'UTR NM_203403.1 NP_981948.1 Q8IV03 CI150_HUMAN leucine rich adaptor protein 1-like 49 Gly-rich. Missing. p.G49_G50insGGG(2)|p.G50_G52delGGG(1) gcggtggtggtggcggcggcgg 0.688 3 4 --- --- --- --- PTPRB 0 broad.mit.edu 37 12 71003062 71003063 + Frame_Shift_Ins INS - - G TCGA-EJ-5510-01A-01D-1576-08 TCGA-EJ-5510-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c55ec8be-cd73-4275-8407-5814a1fc51d5 96d81c6a-b658-42f7-8102-6ff08f9ba464 g.chr12:71003062_71003063insG ENST00000334414.6 - 4 809_810 c.765_766insC c.(763-768)tcgccafs p.P256fs PTPRB_ENST00000538708.1_Frame_Shift_Ins_p.P38fs|PTPRB_ENST00000551525.1_Frame_Shift_Ins_p.P255fs|PTPRB_ENST00000261266.5_Frame_Shift_Ins_p.P38fs|PTPRB_ENST00000550358.1_Frame_Shift_Ins_p.P256fs|PTPRB_ENST00000550857.1_Frame_Shift_Ins_p.P38fs|PTPRB_ENST00000451516.2_Frame_Shift_Ins_p.P38fs|PTPRB_ENST00000538174.2_5'UTR NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 38 Fibronectin type-III 3. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) ACAGAATGGCTGGAGGCCTTGG 0.535 7 150 --- --- --- --- GNPNAT1 0 broad.mit.edu 37 14 53245162 53245163 + Frame_Shift_Del DEL AG AG - TCGA-EJ-5510-01A-01D-1576-08 TCGA-EJ-5510-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c55ec8be-cd73-4275-8407-5814a1fc51d5 96d81c6a-b658-42f7-8102-6ff08f9ba464 g.chr14:53245162_53245163delAG ENST00000216410.3 - 6 608_609 c.421_422delCT c.(421-423)tfs p.L141fs GNPNAT1_ENST00000554230.1_Frame_Shift_Del_p.L70fs NM_198066.3 NP_932332.1 Q96EK6 GNA1_HUMAN glucosamine-phosphate N-acetyltransferase 1 141 N-acetyltransferase. dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process cytosol|endosome membrane|Golgi membrane glucosamine 6-phosphate N-acetyltransferase activity liver(1)|lung(1)|prostate(1)|skin(1) 4 Breast(41;0.176) TAGCAAAGTAAGGGTTGATAAT 0.292 24 130 --- --- --- --- CTD-2245F17.3 0 broad.mit.edu 37 19 53703995 53703996 + RNA DEL TT TT - rs113703393 TCGA-EJ-5510-01A-01D-1576-08 TCGA-EJ-5510-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c55ec8be-cd73-4275-8407-5814a1fc51d5 96d81c6a-b658-42f7-8102-6ff08f9ba464 g.chr19:53703995_53703996delTT ENST00000597550.1 + 0 232 TGTTTCCCCCtttttttttttt 0.475 2 4 --- --- --- --- DGCR5 0 broad.mit.edu 37 22 18976301 18976324 + RNA DEL TATTTATTTATTTATTTATTTATT TATTTATTTATTTATTTATTTATT - rs139950802 TCGA-EJ-5510-01A-01D-1576-08 TCGA-EJ-5510-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c55ec8be-cd73-4275-8407-5814a1fc51d5 96d81c6a-b658-42f7-8102-6ff08f9ba464 g.chr22:18976301_18976324delTATTTATTTATTTATTTATTTATT ENST00000438934.1 + 0 394 DGCR5_ENST00000421572.1_RNA|DGCR5_ENST00000440005.2_RNA TGGCTGGACAtatttatttatttatttatttatttatttattta 0.411 5 4 --- --- --- ---