#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
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	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification
A1CF	29974	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	52601746	52601746	+	Nonsense_Mutation	SNP	T	T	A			TCGA-B0-5699-01A-11D-1534-10	TCGA-B0-5699-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f114d9c-6672-4440-be2d-b0370a9e35f2	36406ad1-96ad-420f-8b28-5142618e35f6	g.chr10:52601746T>A	ENST00000373993.1	-	3	285	c.241A>T	c.(241-243)Aaa>Taa	p.K81*	A1CF_ENST00000395495.1_Nonsense_Mutation_p.K81*|A1CF_ENST00000373997.3_Nonsense_Mutation_p.K81*|A1CF_ENST00000282641.2_Nonsense_Mutation_p.K81*|A1CF_ENST00000374001.2_Nonsense_Mutation_p.K81*|A1CF_ENST00000395489.2_Nonsense_Mutation_p.K74*|A1CF_ENST00000373995.3_Nonsense_Mutation_p.K89*			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	81	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cytidine to uridine editing (GO:0016554)|gene expression (GO:0010467)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|protein stabilization (GO:0050821)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)	p.K89*(1)|p.K81*(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						TCATAAATTTTACCGATCTGC	0.318																																																	2	Substitution - Nonsense(2)	kidney(2)											102.0	99.0	100.0					10																	52601746		2202	4299	6501	SO:0001587	stop_gained	29974			AF271790	CCDS7241.1, CCDS7242.1, CCDS7243.1, CCDS73133.1	10q21.1	2013-02-12			ENSG00000148584	ENSG00000148584		"""RNA binding motif (RRM) containing"""	24086	protein-coding gene	gene with protein product						11815617, 11072063	Standard	NM_014576		Approved	ACF, ASP, ACF64, ACF65, APOBEC1CF	uc001jjj.3	Q9NQ94	OTTHUMG00000018240	ENST00000373993.1:c.241A>T	10.37:g.52601746T>A	ENSP00000363105:p.Lys81*	Somatic		WXS	Illumina HiSeq	Phase_I	A1L4F2|A8K7G7|B7ZM14|Q5SZQ0|Q9NQ93|Q9NQX8|Q9NQX9|Q9NXC9|Q9NZD3	Nonsense_Mutation	SNP	ENST00000373993.1	37	CCDS7242.1	.	.	.	.	.	.	.	.	.	.	T	38	7.047457	0.98025	.	.	ENSG00000148584	ENST00000374001;ENST00000373993;ENST00000373997;ENST00000373995;ENST00000282641;ENST00000395495;ENST00000395488;ENST00000395489;ENST00000414883	.	.	.	5.76	5.76	0.90799	.	0.085998	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.619	14.0338	0.64632	0.0:0.0:0.0:1.0	.	.	.	.	X	81;81;81;89;81;81;64;74;81	.	ENSP00000282641:K81X	K	-	1	0	A1CF	52271752	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	7.527000	0.81931	2.206000	0.71126	0.383000	0.25322	AAA		0.318	A1CF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048086.2		NM_014576	
ABCB1	5243	broad.mit.edu;ucsc.edu	37	7	87214930	87214930	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5699-01A-11D-1534-10	TCGA-B0-5699-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f114d9c-6672-4440-be2d-b0370a9e35f2	36406ad1-96ad-420f-8b28-5142618e35f6	g.chr7:87214930C>T	ENST00000265724.3	-	5	601	c.184G>A	c.(184-186)Ggg>Agg	p.G62R	ABCB1_ENST00000543898.1_Missense_Mutation_p.G62R	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	62	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)	p.G62R(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	AGTCCAGCCCCATGGATGATG	0.393																																																	1	Substitution - Missense(1)	kidney(1)											93.0	94.0	94.0					7																	87214930		2203	4300	6503	SO:0001583	missense	5243			M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.184G>A	7.37:g.87214930C>T	ENSP00000265724:p.Gly62Arg	Somatic		WXS	Illumina GAIIx	Phase_I	A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	C	12.86	2.065747	0.36470	.	.	ENSG00000085563	ENST00000265724;ENST00000543898	T;T	0.80214	-1.35;-1.35	5.72	5.72	0.89469	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.93377	0.7888	H	0.97440	4.005	0.44261	D	0.997114	D;D	0.89917	0.996;1.0	P;D	0.97110	0.883;1.0	D	0.95173	0.8292	10	0.87932	D	0	-22.2302	15.3886	0.74723	0.0:1.0:0.0:0.0	.	62;62	B5AK60;P08183	.;MDR1_HUMAN	R	62	ENSP00000265724:G62R;ENSP00000444095:G62R	ENSP00000265724:G62R	G	-	1	0	ABCB1	87052866	0.997000	0.39634	0.936000	0.37596	0.631000	0.37964	2.529000	0.45632	2.700000	0.92200	0.563000	0.77884	GGG		0.393	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2		NM_000927	
ACSBG1	23205	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	78486923	78486923	+	Silent	SNP	G	G	A			TCGA-B0-5699-01A-11D-1534-10	TCGA-B0-5699-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f114d9c-6672-4440-be2d-b0370a9e35f2	36406ad1-96ad-420f-8b28-5142618e35f6	g.chr15:78486923G>A	ENST00000258873.4	-	3	583	c.378C>T	c.(376-378)cgC>cgT	p.R126R	ACSBG1_ENST00000560817.1_Intron|ACSBG1_ENST00000558828.1_5'Flank|ACSBG1_ENST00000541759.1_Intron	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	126					long-chain fatty acid metabolic process (GO:0001676)|myelination (GO:0042552)|ovarian follicle atresia (GO:0001552)|response to glucocorticoid (GO:0051384)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)	p.R126R(1)		endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						ACTTGTCCTGGCGCTTGAAGC	0.592																																																	1	Substitution - coding silent(1)	kidney(1)											135.0	129.0	131.0					15																	78486923		2196	4293	6489	SO:0001819	synonymous_variant	23205			AB014531	CCDS10298.1	15q23-q24	2006-02-09			ENSG00000103740	ENSG00000103740		"""Acyl-CoA synthetase family"""	29567	protein-coding gene	gene with protein product	"""bubblegum"", ""very long-chain acyl-CoA synthetase"", ""lipidosin"""	614362				9734811, 10954726	Standard	NM_015162		Approved	BGM, FLJ30320, MGC14352, BG1, KIAA0631, hBG1, hsBG	uc002bdh.3	Q96GR2	OTTHUMG00000143734	ENST00000258873.4:c.378C>T	15.37:g.78486923G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B2RB61|O75126|Q76N27|Q9HC26	Silent	SNP	ENST00000258873.4	37	CCDS10298.1																																																																																				0.592	ACSBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289802.2		NM_015162	
ALDH1L1	10840	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	125854457	125854457	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5699-01A-11D-1534-10	TCGA-B0-5699-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f114d9c-6672-4440-be2d-b0370a9e35f2	36406ad1-96ad-420f-8b28-5142618e35f6	g.chr3:125854457C>G	ENST00000393434.2	-	12	1742	c.1393G>C	c.(1393-1395)Gtg>Ctg	p.V465L	ALDH1L1_ENST00000472186.1_Missense_Mutation_p.V465L|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.V475L|ALDH1L1_ENST00000393431.2_Missense_Mutation_p.V465L|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.V364L	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	465	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)	p.V465L(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	GCTGCGGCCACTGCCTTGTCG	0.592																																																	1	Substitution - Missense(1)	kidney(1)											134.0	106.0	115.0					3																	125854457		2203	4300	6503	SO:0001583	missense	10840			AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"""Aldehyde dehydrogenases"""	3978	protein-coding gene	gene with protein product	"""cytosolic 10-formyltetrahydrofolate dehydrogenase"""	600249	"""formyltetrahydrofolate dehydrogenase"""	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.1393G>C	3.37:g.125854457C>G	ENSP00000377083:p.Val465Leu	Somatic		WXS	Illumina HiSeq	Phase_I	B4DG36|E9PBX3|Q68CS1	Missense_Mutation	SNP	ENST00000393434.2	37	CCDS3034.1	.	.	.	.	.	.	.	.	.	.	C	17.40	3.379067	0.61735	.	.	ENSG00000144908	ENST00000273450;ENST00000472186;ENST00000452905;ENST00000393434;ENST00000393431	T;T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13;-1.13	4.16	4.16	0.48862	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.155681	0.40908	N	0.001000	D	0.82967	0.5152	M	0.83118	2.625	0.80722	D	1	P;P;P	0.49635	0.9;0.926;0.926	P;P;P	0.48873	0.593;0.581;0.485	D	0.86746	0.1957	10	0.87932	D	0	.	14.3504	0.66697	0.0:1.0:0.0:0.0	.	364;517;465	E9PBX3;Q59G10;O75891	.;.;AL1L1_HUMAN	L	475;465;364;465;465	ENSP00000273450:V475L;ENSP00000420293:V465L;ENSP00000395881:V364L;ENSP00000377083:V465L;ENSP00000377081:V465L	ENSP00000273450:V475L	V	-	1	0	ALDH1L1	127337147	1.000000	0.71417	0.996000	0.52242	0.102000	0.19082	5.043000	0.64208	2.331000	0.79229	0.460000	0.39030	GTG		0.592	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354391.1		NM_012190	
ANKRD27	84079	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	33110234	33110234	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5699-01A-11D-1534-10	TCGA-B0-5699-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f114d9c-6672-4440-be2d-b0370a9e35f2	36406ad1-96ad-420f-8b28-5142618e35f6	g.chr19:33110234A>T	ENST00000306065.4	-	20	2097	c.1939T>A	c.(1939-1941)Tcc>Acc	p.S647T		NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	647					early endosome to late endosome transport (GO:0045022)|positive regulation of GTPase activity (GO:0043547)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|lysosome (GO:0005764)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)	p.S647T(1)		breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					CTGGAAGTGGAGGACTCTTGG	0.622																																																	1	Substitution - Missense(1)	kidney(1)											88.0	81.0	84.0					19																	33110234		2203	4300	6503	SO:0001583	missense	84079			AK054561	CCDS32986.1	19q13.12	2013-01-10				ENSG00000105186		"""Ankyrin repeat domain containing"""	25310	protein-coding gene	gene with protein product	"""Vps9 domain and ankyrin-repeat-containing protein"""					11230166, 16525121	Standard	NM_032139		Approved	FLJ00040, DKFZp434L0718, VARP	uc002ntn.1	Q96NW4		ENST00000306065.4:c.1939T>A	19.37:g.33110234A>T	ENSP00000304292:p.Ser647Thr	Somatic		WXS	Illumina HiSeq	Phase_I	Q71MF5|Q86UC3|Q8ND80|Q9H0I4	Missense_Mutation	SNP	ENST00000306065.4	37	CCDS32986.1	.	.	.	.	.	.	.	.	.	.	A	12.86	2.063074	0.36373	.	.	ENSG00000105186	ENST00000306065	T	0.62788	-0.0	5.57	4.56	0.56223	Ankyrin repeat-containing domain (2);	0.000000	0.56097	D	0.000039	T	0.53367	0.1792	M	0.61703	1.905	0.80722	D	1	P	0.36282	0.546	B	0.33295	0.161	T	0.48445	-0.9035	10	0.27082	T	0.32	-5.0298	8.0106	0.30351	0.8382:0.0:0.1618:0.0	.	647	Q96NW4	ANR27_HUMAN	T	647	ENSP00000304292:S647T	ENSP00000304292:S647T	S	-	1	0	ANKRD27	37802074	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	3.624000	0.54231	0.944000	0.37579	0.533000	0.62120	TCC		0.622	ANKRD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450329.1		NM_032139	
ARHGAP5	394	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	32563340	32563340	+	Nonsense_Mutation	SNP	T	T	G			TCGA-B0-5699-01A-11D-1534-10	TCGA-B0-5699-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f114d9c-6672-4440-be2d-b0370a9e35f2	36406ad1-96ad-420f-8b28-5142618e35f6	g.chr14:32563340T>G	ENST00000345122.3	+	2	3780	c.3465T>G	c.(3463-3465)taT>taG	p.Y1155*	ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000432921.1_Nonsense_Mutation_p.Y1155*|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000556611.1_Nonsense_Mutation_p.Y1155*|ARHGAP5_ENST00000539826.2_Nonsense_Mutation_p.Y1155*	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	1155					cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)	p.Y1155*(1)		NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		AATACAAATATAAATCTAAAA	0.353																																					NSCLC(9;77 350 3443 29227 41353)												1	Substitution - Nonsense(1)	kidney(1)											56.0	60.0	58.0					14																	32563340		2202	4299	6501	SO:0001587	stop_gained	394			U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"""Rho GTPase activating proteins"""	675	protein-coding gene	gene with protein product		602680	"""growth factor independent 2"""	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.3465T>G	14.37:g.32563340T>G	ENSP00000371897:p.Tyr1155*	Somatic		WXS	Illumina HiSeq	Phase_I	A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Nonsense_Mutation	SNP	ENST00000345122.3	37	CCDS32062.1	.	.	.	.	.	.	.	.	.	.	T	43	10.140868	0.99345	.	.	ENSG00000100852	ENST00000556611;ENST00000539826;ENST00000345122;ENST00000432921	.	.	.	5.12	-0.955	0.10356	.	0.364853	0.31872	N	0.006924	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	12.1135	0.53852	0.0:0.4628:0.0:0.5372	.	.	.	.	X	1155	.	ENSP00000371897:Y1155X	Y	+	3	2	ARHGAP5	31633091	0.223000	0.23663	0.996000	0.52242	0.909000	0.53808	-0.462000	0.06704	-0.270000	0.09285	-1.773000	0.00660	TAT		0.353	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1		NM_001030055	
VCPKMT	79609	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	50579393	50579393	+	Silent	SNP	T	T	C			TCGA-B0-5699-01A-11D-1534-10	TCGA-B0-5699-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f114d9c-6672-4440-be2d-b0370a9e35f2	36406ad1-96ad-420f-8b28-5142618e35f6	g.chr14:50579393T>C	ENST00000395860.2	-	5	619	c.615A>G	c.(613-615)aaA>aaG	p.K205K	VCPKMT_ENST00000395859.2_Intron	NM_024558.2	NP_078834.2	Q9H867	MT21D_HUMAN	valosin containing protein lysine (K) methyltransferase	205					peptidyl-lysine trimethylation (GO:0018023)	cytoplasm (GO:0005737)	protein-lysine N-methyltransferase activity (GO:0016279)	p.K205K(1)									CTTCATCATGTTTTTCCAAAG	0.303																																																	1	Substitution - coding silent(1)	kidney(1)											46.0	40.0	42.0					14																	50579393		1785	4045	5830	SO:0001819	synonymous_variant	0			AK023982	CCDS9696.2, CCDS41951.1	14q21.3	2013-09-30	2013-09-30	2013-09-30	ENSG00000100483	ENSG00000100483			20352	protein-coding gene	gene with protein product		615260	"""chromosome 14 open reading frame 138"", ""methyltransferase like 21D"""	C14orf138, METTL21D		22948820	Standard	NR_049738		Approved	VCP-KMT	uc001wxo.1	Q9H867	OTTHUMG00000029531	ENST00000395860.2:c.615A>G	14.37:g.50579393T>C		Somatic		WXS	Illumina HiSeq	Phase_I	B7ZLA3|B7ZLA4|Q2M2X3|Q86T12	Silent	SNP	ENST00000395860.2	37	CCDS9696.2																																																																																				0.303	VCPKMT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276877.1		NM_024558	
CLEC2L	154790	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	139225199	139225199	+	Missense_Mutation	SNP	C	C	A	rs367894516		TCGA-B0-5699-01A-11D-1534-10	TCGA-B0-5699-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f114d9c-6672-4440-be2d-b0370a9e35f2	36406ad1-96ad-420f-8b28-5142618e35f6	g.chr7:139225199C>A	ENST00000422142.2	+	3	470	c.398C>A	c.(397-399)gCg>gAg	p.A133E		NM_001080511.2	NP_001073980.2	P0C7M8	CLC2L_HUMAN	C-type lectin domain family 2, member L	133	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.A133E(1)		NS(1)|endometrium(1)|kidney(2)|lung(1)	5	Melanoma(164;0.233)					ACCCACGAGGCGGTGCTGGCT	0.607																																																	1	Substitution - Missense(1)	kidney(1)											14.0	17.0	16.0					7																	139225199		1999	4167	6166	SO:0001583	missense	154790			AK057548	CCDS47724.1	7q34	2011-05-18			ENSG00000236279	ENSG00000236279		"""C-type lectin domain containing"""	21969	protein-coding gene	gene with protein product							Standard	NM_001080511		Approved	FLJ32986	uc010lnd.3	P0C7M8	OTTHUMG00000164900	ENST00000422142.2:c.398C>A	7.37:g.139225199C>A	ENSP00000390661:p.Ala133Glu	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000422142.2	37	CCDS47724.1	.	.	.	.	.	.	.	.	.	.	C	18.54	3.646154	0.67358	.	.	ENSG00000236279	ENST00000422142	T	0.26810	1.71	4.81	4.81	0.61882	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	.	.	.	.	T	0.58452	0.2123	M	0.91459	3.21	0.39989	D	0.975019	D	0.89917	1.0	D	0.87578	0.998	T	0.69595	-0.5103	9	0.87932	D	0	-19.9036	13.3746	0.60730	0.0:1.0:0.0:0.0	.	133	P0C7M8	CLC2L_HUMAN	E	133	ENSP00000390661:A133E	ENSP00000390661:A133E	A	+	2	0	CLEC2L	138875739	0.987000	0.35691	0.757000	0.31301	0.773000	0.43773	3.843000	0.55865	2.200000	0.70718	0.563000	0.77884	GCG		0.607	CLEC2L-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380878.1		NM_001080511	
COL9A2	1298	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	40777353	40777353	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5699-01A-11D-1534-10	TCGA-B0-5699-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f114d9c-6672-4440-be2d-b0370a9e35f2	36406ad1-96ad-420f-8b28-5142618e35f6	g.chr1:40777353G>A	ENST00000372748.3	-	9	548	c.452C>T	c.(451-453)cCa>cTa	p.P151L		NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	151	Triple-helical region 4 (COL4).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)	p.P151L(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			AGGGGGTCCTGGGGGCCCCGA	0.612																																																	1	Substitution - Missense(1)	kidney(1)											44.0	55.0	51.0					1																	40777353		2201	4295	6496	SO:0001583	missense	1298			M95610	CCDS450.1	1p33-p32	2013-01-16			ENSG00000049089	ENSG00000049089		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2218	protein-coding gene	gene with protein product		120260		EDM2		8454052, 8528240, 1429648	Standard	NM_001852		Approved	MED	uc001cfh.1	Q14055	OTTHUMG00000005761	ENST00000372748.3:c.452C>T	1.37:g.40777353G>A	ENSP00000361834:p.Pro151Leu	Somatic		WXS	Illumina HiSeq	Phase_I	B2RMP9	Missense_Mutation	SNP	ENST00000372748.3	37	CCDS450.1	.	.	.	.	.	.	.	.	.	.	.	13.48	2.250370	0.39797	.	.	ENSG00000049089	ENST00000372748;ENST00000372736	D;D	0.96885	-4.16;-3.21	5.93	5.93	0.95920	.	0.109289	0.64402	D	0.000006	D	0.97986	0.9337	M	0.88979	2.995	0.80722	D	1	D	0.64830	0.994	P	0.59825	0.864	D	0.98029	1.0375	10	0.52906	T	0.07	.	15.8313	0.78752	0.0:0.0:1.0:0.0	.	151	Q14055	CO9A2_HUMAN	L	151;80	ENSP00000361834:P151L;ENSP00000361821:P80L	ENSP00000361821:P80L	P	-	2	0	COL9A2	40549940	1.000000	0.71417	0.963000	0.40424	0.002000	0.02628	7.956000	0.87863	2.797000	0.96272	0.655000	0.94253	CCA		0.612	COL9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015764.3		NM_001852	
DCAF11	80344	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	24587733	24587733	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5699-01A-11D-1534-10	TCGA-B0-5699-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f114d9c-6672-4440-be2d-b0370a9e35f2	36406ad1-96ad-420f-8b28-5142618e35f6	g.chr14:24587733G>C	ENST00000446197.3	+	7	1441	c.714G>C	c.(712-714)tgG>tgC	p.W238C	DCAF11_ENST00000559115.1_Missense_Mutation_p.W238C|DCAF11_ENST00000396936.1_Missense_Mutation_p.W138C|RP11-468E2.6_ENST00000558325.1_5'Flank|DCAF11_ENST00000396941.4_Missense_Mutation_p.W212C	NM_025230.4	NP_079506.3	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11	238					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)		p.W238C(1)									ACTCTAGCTGGTCTGATTACA	0.552																																																	1	Substitution - Missense(1)	kidney(1)											85.0	76.0	79.0					14																	24587733		2203	4300	6503	SO:0001583	missense	80344			AF130070	CCDS9610.1, CCDS41929.1	14q11.2	2013-01-09	2009-07-17	2009-07-17	ENSG00000100897	ENSG00000100897		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	20258	protein-coding gene	gene with protein product		613317	"""WD repeat domain 23"""	WDR23			Standard	NM_025230		Approved	PRO2389, GL014	uc001wlv.3	Q8TEB1	OTTHUMG00000028793	ENST00000446197.3:c.714G>C	14.37:g.24587733G>C	ENSP00000415556:p.Trp238Cys	Somatic		WXS	Illumina HiSeq	Phase_I	B3KQ83|D3DS56|Q5D039|Q86U00|Q86U39|Q8NDN2|Q9H2J0|Q9H3A3|Q9H5C9	Missense_Mutation	SNP	ENST00000446197.3	37	CCDS9610.1	.	.	.	.	.	.	.	.	.	.	g	20.2	3.946157	0.73672	.	.	ENSG00000100897	ENST00000326009;ENST00000446197;ENST00000396936;ENST00000396941	T;T	0.41065	5.05;1.01	5.29	5.29	0.74685	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.67173	0.2865	M	0.83483	2.645	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.999;0.997;1.0;0.998	T	0.66995	-0.5782	10	0.39692	T	0.17	-11.9079	16.4614	0.84056	0.0:0.0:1.0:0.0	.	161;212;138;238;238	Q59GN6;Q8TEB1-2;Q8TEB1-3;A8K9T2;Q8TEB1	.;.;.;.;DCA11_HUMAN	C	238;212;138;212	ENSP00000380142:W138C;ENSP00000380146:W212C	ENSP00000323680:W238C	W	+	3	0	DCAF11	23657573	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.016000	0.88706	2.746000	0.94184	0.655000	0.94253	TGG		0.552	DCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071907.4			
DCST1	149095	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	155006934	155006934	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5699-01A-11D-1534-10	TCGA-B0-5699-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f114d9c-6672-4440-be2d-b0370a9e35f2	36406ad1-96ad-420f-8b28-5142618e35f6	g.chr1:155006934G>T	ENST00000295542.1	+	3	181	c.85G>T	c.(85-87)Ggg>Tgg	p.G29W	DCST2_ENST00000368424.3_5'Flank|DCST1_ENST00000423025.2_Missense_Mutation_p.G29W|DCST2_ENST00000295536.5_5'Flank|DCST1_ENST00000392480.1_Missense_Mutation_p.G29W|DCST1_ENST00000368419.2_Missense_Mutation_p.G29W	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	29						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.G29W(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			CCTGACCTGGGGGCTGCCAGT	0.652																																																	1	Substitution - Missense(1)	kidney(1)											75.0	87.0	83.0					1																	155006934		2203	4300	6503	SO:0001583	missense	149095			AK057347	CCDS1083.1, CCDS44235.1	1q22	2008-02-05			ENSG00000163357	ENSG00000163357			26539	protein-coding gene	gene with protein product							Standard	NM_152494		Approved	FLJ32785	uc001fgn.2	Q5T197	OTTHUMG00000041314	ENST00000295542.1:c.85G>T	1.37:g.155006934G>T	ENSP00000295542:p.Gly29Trp	Somatic		WXS	Illumina HiSeq	Phase_I	B4DXA0|E9PHV3|Q5T198|Q6P1W6|Q71S70|Q96M70	Missense_Mutation	SNP	ENST00000295542.1	37	CCDS1083.1	.	.	.	.	.	.	.	.	.	.	G	18.53	3.644555	0.67358	.	.	ENSG00000163357	ENST00000295542;ENST00000392480;ENST00000423025;ENST00000368419	T;T;T;T	0.24908	1.93;1.9;1.83;1.9	5.18	4.25	0.50352	.	1.145510	0.06480	N	0.732778	T	0.22627	0.0546	L	0.51422	1.61	0.29989	N	0.817007	D;D;D	0.71674	0.993;0.998;0.993	P;P;P	0.53185	0.628;0.72;0.628	T	0.08289	-1.0729	10	0.62326	D	0.03	-21.7886	10.1202	0.42616	0.0951:0.0:0.9049:0.0	.	29;54;29	E9PHV3;E9PJX3;Q5T197	.;.;DCST1_HUMAN	W	29	ENSP00000295542:G29W;ENSP00000376271:G29W;ENSP00000387369:G29W;ENSP00000357404:G29W	ENSP00000295542:G29W	G	+	1	0	DCST1	153273558	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	0.461000	0.21940	1.154000	0.42482	0.655000	0.94253	GGG		0.652	DCST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099006.1		NM_152494	
DDX27	55661	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	47838004	47838004	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5699-01A-11D-1534-10	TCGA-B0-5699-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f114d9c-6672-4440-be2d-b0370a9e35f2	36406ad1-96ad-420f-8b28-5142618e35f6	g.chr20:47838004G>C	ENST00000371764.4	+	2	211	c.202G>C	c.(202-204)Ggc>Cgc	p.G68R	DDX27_ENST00000484427.1_3'UTR	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	68	Asp/Glu/Lys-rich.					nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)	p.G68R(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CATTGTGCTGGGCAGACGACA	0.527																																																	1	Substitution - Missense(1)	kidney(1)											71.0	64.0	66.0					20																	47838004		2203	4300	6503	SO:0001583	missense	55661			AL049766	CCDS13416.1	20q13.13	2010-07-06	2003-06-13		ENSG00000124228	ENSG00000124228		"""DEAD-boxes"""	15837	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 27"""				Standard	NM_017895		Approved	dJ686N3.1, DRS1	uc002xuh.3	Q96GQ7	OTTHUMG00000033072	ENST00000371764.4:c.202G>C	20.37:g.47838004G>C	ENSP00000360828:p.Gly68Arg	Somatic		WXS	Illumina HiSeq	Phase_I	A0AVB6|B7ZLY1|Q5VXM7|Q8WYG4|Q969N7|Q96F57|Q96L97|Q9BWY9|Q9BXF0|Q9H990|Q9NWU3|Q9P0C2|Q9UGD6	Missense_Mutation	SNP	ENST00000371764.4	37	CCDS13416.1	.	.	.	.	.	.	.	.	.	.	G	4.806	0.149826	0.09185	.	.	ENSG00000124228	ENST00000535160;ENST00000371764	D	0.96745	-4.11	5.16	5.16	0.70880	.	0.095347	0.64402	D	0.000001	D	0.92381	0.7582	L	0.33485	1.01	0.36861	D	0.888394	B	0.28713	0.22	B	0.24006	0.05	D	0.91235	0.5017	10	0.17369	T	0.5	-10.6358	16.1783	0.81884	0.0:0.0:1.0:0.0	.	68	Q96GQ7	DDX27_HUMAN	R	68	ENSP00000360828:G68R	ENSP00000360828:G68R	G	+	1	0	DDX27	47271411	1.000000	0.71417	1.000000	0.80357	0.483000	0.33249	5.235000	0.65348	2.698000	0.92095	0.561000	0.74099	GGC		0.527	DDX27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080485.1			
EHBP1	23301	broad.mit.edu;ucsc.edu	37	2	62934347	62934347	+	Silent	SNP	A	A	G			TCGA-B0-5699-01A-11D-1534-10	TCGA-B0-5699-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f114d9c-6672-4440-be2d-b0370a9e35f2	36406ad1-96ad-420f-8b28-5142618e35f6	g.chr2:62934347A>G	ENST00000263991.5	+	2	503	c.21A>G	c.(19-21)agA>agG	p.R7R	EHBP1_ENST00000431489.1_Silent_p.R7R|EHBP1_ENST00000405015.3_Silent_p.R7R|EHBP1_ENST00000354487.3_Silent_p.R7R|EHBP1_ENST00000405289.1_Silent_p.R7R	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	7						cytoplasm (GO:0005737)|membrane (GO:0016020)		p.R7R(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			TTTGGAAGAGACTGCAGCGTG	0.473																																																	1	Substitution - coding silent(1)	kidney(1)											166.0	156.0	159.0					2																	62934347		2203	4300	6503	SO:0001819	synonymous_variant	23301			AL833968	CCDS1872.1, CCDS46299.1, CCDS46300.1	2p15	2008-02-05			ENSG00000115504	ENSG00000115504			29144	protein-coding gene	gene with protein product		609922				10048485	Standard	NM_015252		Approved	KIAA0903, NACSIN	uc002sby.3	Q8NDI1	OTTHUMG00000129453	ENST00000263991.5:c.21A>G	2.37:g.62934347A>G		Somatic		WXS	Illumina GAIIx	Phase_I	O94977|Q53TG7|Q53TV6|Q580X2|Q6NX72|Q6PIT3|Q6QNV2|Q9NWI9	Silent	SNP	ENST00000263991.5	37	CCDS1872.1																																																																																				0.473	EHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251616.1		NM_015252	
EYA2	2139	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	45702893	45702893	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5699-01A-11D-1534-10	TCGA-B0-5699-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f114d9c-6672-4440-be2d-b0370a9e35f2	36406ad1-96ad-420f-8b28-5142618e35f6	g.chr20:45702893C>A	ENST00000327619.5	+	7	954	c.580C>A	c.(580-582)Cct>Act	p.P194T	EYA2_ENST00000357410.3_Missense_Mutation_p.P194T|EYA2_ENST00000317304.6_Missense_Mutation_p.P194T	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	EYA transcriptional coactivator and phosphatase 2	194					DNA repair (GO:0006281)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|histone dephosphorylation (GO:0016576)|mesodermal cell fate specification (GO:0007501)|mitochondrial outer membrane permeabilization (GO:0097345)|peptidyl-tyrosine dephosphorylation (GO:0035335)|regulation of transcription, DNA-templated (GO:0006355)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|protein tyrosine phosphatase activity (GO:0004725)	p.P194T(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				CAGCATCTGCCCTTCGCCCCT	0.612																																					Pancreas(120;56 1725 18501 25218 43520)												1	Substitution - Missense(1)	kidney(1)											146.0	115.0	125.0					20																	45702893		2203	4300	6503	SO:0001583	missense	2139				CCDS13403.1, CCDS54471.1	20q13.1	2014-06-19	2014-06-19		ENSG00000064655	ENSG00000064655		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3520	protein-coding gene	gene with protein product		601654	"""eyes absent (Drosophila) homolog 2"", ""eyes absent homolog 2 (Drosophila)"""			9020840	Standard	NM_005244		Approved	EAB1	uc002xsm.3	O00167	OTTHUMG00000033041	ENST00000327619.5:c.580C>A	20.37:g.45702893C>A	ENSP00000333640:p.Pro194Thr	Somatic		WXS	Illumina HiSeq	Phase_I	Q5JSW8|Q86U84|Q96CV6|Q96H97|Q99503|Q99812|Q9BWF6|Q9H4S3|Q9H4S9|Q9NPZ4|Q9UIX7	Missense_Mutation	SNP	ENST00000327619.5	37	CCDS13403.1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.611071	0.46631	.	.	ENSG00000064655	ENST00000327619;ENST00000357410;ENST00000484200;ENST00000317304	T;T;T	0.81415	-1.49;-1.49;-1.49	5.48	1.41	0.22369	.	0.107292	0.64402	D	0.000004	T	0.72179	0.3428	L	0.50333	1.59	0.48185	D	0.999603	P;P;P;P	0.45531	0.86;0.649;0.702;0.702	B;B;B;B	0.41510	0.359;0.254;0.321;0.321	T	0.65459	-0.6163	10	0.22706	T	0.39	-12.3831	10.3388	0.43864	0.0:0.7516:0.0:0.2484	.	194;194;194;194	O00167-3;E7ETN2;A8KAG7;O00167	.;.;.;EYA2_HUMAN	T	194	ENSP00000333640:P194T;ENSP00000349986:P194T;ENSP00000321590:P194T	ENSP00000321590:P194T	P	+	1	0	EYA2	45136300	1.000000	0.71417	0.969000	0.41365	0.972000	0.66771	1.757000	0.38400	0.283000	0.22279	0.655000	0.94253	CCT		0.612	EYA2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080326.2		NM_005244	
FAM71B	153745	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	156589916	156589916	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5699-01A-11D-1534-10	TCGA-B0-5699-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f114d9c-6672-4440-be2d-b0370a9e35f2	36406ad1-96ad-420f-8b28-5142618e35f6	g.chr5:156589916G>A	ENST00000302938.4	-	2	1455	c.1360C>T	c.(1360-1362)Cgc>Tgc	p.R454C		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	454						nucleus (GO:0005634)		p.R454C(1)		NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCTCTCCTGCGGTGACTTTCA	0.478																																																	1	Substitution - Missense(1)	kidney(1)											176.0	167.0	170.0					5																	156589916		2203	4300	6503	SO:0001583	missense	153745				CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.1360C>T	5.37:g.156589916G>A	ENSP00000305596:p.Arg454Cys	Somatic		WXS	Illumina HiSeq	Phase_I	Q1EDD9|Q8TC64|Q96LY8	Missense_Mutation	SNP	ENST00000302938.4	37	CCDS4335.1	.	.	.	.	.	.	.	.	.	.	G	12.94	2.088750	0.36855	.	.	ENSG00000170613	ENST00000302938	T	0.19394	2.15	3.27	2.38	0.29361	.	0.818713	0.10033	N	0.724523	T	0.20251	0.0487	L	0.40543	1.245	0.18873	N	0.999988	D	0.69078	0.997	P	0.47299	0.543	T	0.15694	-1.0428	10	0.87932	D	0	-0.2522	5.4112	0.16349	0.1558:0.0:0.8442:0.0	.	454	Q8TC56	FA71B_HUMAN	C	454	ENSP00000305596:R454C	ENSP00000305596:R454C	R	-	1	0	FAM71B	156522494	0.003000	0.15002	0.178000	0.23040	0.250000	0.25880	1.070000	0.30653	1.761000	0.52028	0.467000	0.42956	CGC		0.478	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2		NM_130899	
FPR1	2357	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	52249899	52249899	+	Missense_Mutation	SNP	C	C	T	rs547228145		TCGA-B0-5699-01A-11D-1534-10	TCGA-B0-5699-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f114d9c-6672-4440-be2d-b0370a9e35f2	36406ad1-96ad-420f-8b28-5142618e35f6	g.chr19:52249899C>T	ENST00000595042.1	-	3	490	c.349G>A	c.(349-351)Gcc>Acc	p.A117T	FPR1_ENST00000304748.4_Missense_Mutation_p.A117T	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	117					activation of MAPK activity (GO:0000187)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|nitric oxide mediated signal transduction (GO:0007263)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	N-formyl peptide receptor activity (GO:0004982)|receptor activity (GO:0004872)	p.A117T(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	GCAATGAGGGCGATCAGGAAG	0.557													C|||	1	0.000199681	0.0	0.0	5008	,	,		21669	0.001		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	kidney(1)											114.0	88.0	97.0					19																	52249899		2203	4300	6503	SO:0001583	missense	2357			M60627	CCDS12839.1	19q13.41	2014-09-17				ENSG00000171051		"""GPCR / Class A : Formyl peptide receptors"""	3826	protein-coding gene	gene with protein product		136537				2161213, 12595898	Standard	NM_001193306		Approved	FPR, FMLP	uc002pxq.3	P21462		ENST00000595042.1:c.349G>A	19.37:g.52249899C>T	ENSP00000471493:p.Ala117Thr	Somatic		WXS	Illumina HiSeq	Phase_I	Q14939|Q7Z6A4|Q86U52|Q9NS48	Missense_Mutation	SNP	ENST00000595042.1	37	CCDS12839.1	.	.	.	.	.	.	.	.	.	.	.	0.110	-1.140343	0.01728	.	.	ENSG00000171051	ENST00000304748	T	0.70986	-0.53	3.66	0.215	0.15253	GPCR, rhodopsin-like superfamily (1);	0.162995	0.40469	N	0.001099	T	0.35856	0.0946	N	0.05050	-0.12	0.27362	N	0.955931	B	0.11235	0.004	B	0.17722	0.019	T	0.27536	-1.0071	10	0.02654	T	1	.	2.8556	0.05571	0.4295:0.3723:0.0:0.1982	.	117	P21462	FPR1_HUMAN	T	117	ENSP00000302707:A117T	ENSP00000302707:A117T	A	-	1	0	FPR1	56941711	0.028000	0.19301	0.267000	0.24556	0.398000	0.30690	1.478000	0.35442	0.281000	0.22233	-0.152000	0.13540	GCC		0.557	FPR1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466905.1		NM_002029	
FAM71E2	284418	broad.mit.edu;hgsc.bcm.edu	37	19	55873723	55873723	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5699-01A-11D-1534-10	TCGA-B0-5699-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f114d9c-6672-4440-be2d-b0370a9e35f2	36406ad1-96ad-420f-8b28-5142618e35f6	g.chr19:55873723G>A	ENST00000424985.3	-	3	647	c.454C>T	c.(454-456)Ctc>Ttc	p.L152F	CTD-2105E13.6_ENST00000591954.3_5'Flank	NM_001145402.1	NP_001138874.1	Q8N5Q1	F71E2_HUMAN	family with sequence similarity 71, member E2	152								p.L152F(2)		NS(1)|breast(3)|endometrium(2)|kidney(1)|skin(1)	8						AGGTTGATGAGGCGGACCCAG	0.697																																																	2	Substitution - Missense(2)	kidney(2)											18.0	23.0	22.0					19																	55873723		692	1591	2283	SO:0001583	missense	284418			AL834316		19q13.42	2014-04-02	2007-11-20	2007-11-20	ENSG00000180043	ENSG00000180043			25278	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 16"""	C19orf16			Standard	NM_001145402		Approved	DKFZp434G1729	uc002qkr.2	Q8N5Q1	OTTHUMG00000170357	ENST00000424985.3:c.454C>T	19.37:g.55873723G>A	ENSP00000398617:p.Leu152Phe	Somatic		WXS	Illumina HiSeq	Phase_I	Q8ND99	Missense_Mutation	SNP	ENST00000424985.3	37		.	.	.	.	.	.	.	.	.	.	N	16.17	3.048044	0.55110	.	.	ENSG00000180043	ENST00000424985	T	0.27720	1.65	3.63	2.45	0.29901	.	0.000000	0.44688	U	0.000427	T	0.54382	0.1855	M	0.86502	2.82	0.26016	N	0.981926	D	0.89917	1.0	D	0.85130	0.997	T	0.40156	-0.9578	10	0.87932	D	0	-20.4481	7.5258	0.27653	0.0:0.0:0.7442:0.2558	.	152	Q8N5Q1	F71E2_HUMAN	F	152	ENSP00000398617:L152F	ENSP00000398617:L152F	L	-	1	0	FAM71E2	60565535	0.838000	0.29461	0.548000	0.28192	0.625000	0.37756	3.260000	0.51523	1.975000	0.57531	0.550000	0.68814	CTC		0.697	FAM71E2-010	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000409063.4		NM_001145402	
GJB3	2707	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	35250612	35250612	+	Silent	SNP	C	C	T			TCGA-B0-5699-01A-11D-1534-10	TCGA-B0-5699-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f114d9c-6672-4440-be2d-b0370a9e35f2	36406ad1-96ad-420f-8b28-5142618e35f6	g.chr1:35250612C>T	ENST00000373366.2	+	2	864	c.249C>T	c.(247-249)ttC>ttT	p.F83F	GJB3_ENST00000373362.3_Silent_p.F83F|RP1-34M23.5_ENST00000542839.1_RNA	NM_024009.2	NP_076872.1	O75712	CXB3_HUMAN	gap junction protein, beta 3, 31kDa	83					cell communication (GO:0007154)|in utero embryonic development (GO:0001701)|placenta development (GO:0001890)|sensory perception of sound (GO:0007605)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	connexon complex (GO:0005922)|cytoplasm (GO:0005737)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)	gap junction channel activity (GO:0005243)	p.F83F(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|prostate(3)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				AGCTCATCTTCGTCACATGCC	0.627																																																	1	Substitution - coding silent(1)	kidney(1)											139.0	115.0	123.0					1																	35250612		2203	4300	6503	SO:0001819	synonymous_variant	2707			BC012918	CCDS384.1	1p34	2008-05-14	2007-01-16		ENSG00000188910	ENSG00000188910		"""Ion channels / Gap junction proteins (connexins)"""	4285	protein-coding gene	gene with protein product	"""connexin 31"""	603324	"""gap junction protein, beta 3, 31kD (connexin 31)"", ""gap junction protein, beta 3, 31kDa (connexin 31)"", ""erythrokeratodermia variabilis"""	DFNA2, EKV		9843210, 9704026	Standard	NM_024009		Approved	CX31	uc001bxy.3	O75712	OTTHUMG00000004051	ENST00000373366.2:c.249C>T	1.37:g.35250612C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B2R790|Q2TAZ8	Silent	SNP	ENST00000373366.2	37	CCDS384.1																																																																																				0.627	GJB3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011559.1		NM_024009	
GSR	2936	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	30538473	30538473	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5699-01A-11D-1534-10	TCGA-B0-5699-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f114d9c-6672-4440-be2d-b0370a9e35f2	36406ad1-96ad-420f-8b28-5142618e35f6	g.chr8:30538473T>C	ENST00000221130.5	-	12	1457	c.1367A>G	c.(1366-1368)aAa>aGa	p.K456R	GSR_ENST00000541648.1_Missense_Mutation_p.K403R|GSR_ENST00000414019.1_Missense_Mutation_p.K413R|GSR_ENST00000537535.1_Missense_Mutation_p.K374R|GSR_ENST00000546342.1_Missense_Mutation_p.K427R	NM_000637.3|NM_001195102.1|NM_001195103.1	NP_000628.2|NP_001182031.1|NP_001182032.1	P00390	GSHR_HUMAN	glutathione reductase	456					cell redox homeostasis (GO:0045454)|glutathione metabolic process (GO:0006749)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|glutathione-disulfide reductase activity (GO:0004362)|NADP binding (GO:0050661)	p.K456R(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	23				KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	Carmustine(DB00262)|Flavin adenine dinucleotide(DB03147)|Glutathione(DB00143)	TGTTTTCCTTTTGGTAACTGC	0.363																																																	1	Substitution - Missense(1)	kidney(1)											295.0	273.0	281.0					8																	30538473		2202	4300	6502	SO:0001583	missense	2936				CCDS34877.1, CCDS56530.1, CCDS56531.1, CCDS56532.1	8p21.1	2012-10-02			ENSG00000104687	ENSG00000104687	1.8.1.7		4623	protein-coding gene	gene with protein product		138300					Standard	NM_000637		Approved		uc003xih.2	P00390	OTTHUMG00000163946	ENST00000221130.5:c.1367A>G	8.37:g.30538473T>C	ENSP00000221130:p.Lys456Arg	Somatic		WXS	Illumina HiSeq	Phase_I	C8KIL8|C8KIL9|C8KIM0|D3DSV3|Q7Z5C9|Q9NP63	Missense_Mutation	SNP	ENST00000221130.5	37	CCDS34877.1	.	.	.	.	.	.	.	.	.	.	T	11.46	1.644877	0.29246	.	.	ENSG00000104687	ENST00000221130;ENST00000414019;ENST00000546342;ENST00000541648;ENST00000537535	D;D;D;D;D	0.92595	-3.07;-3.07;-3.07;-3.07;-3.07	5.35	0.653	0.17828	FAD/NAD-linked reductase, dimerisation (1);Pyridine nucleotide-disulphide oxidoreductase, dimerisation (2);	0.472179	0.25114	N	0.033037	T	0.79246	0.4413	N	0.10945	0.07	0.24340	N	0.994961	B	0.02656	0.0	B	0.06405	0.002	T	0.64732	-0.6338	10	0.22109	T	0.4	-16.7824	6.4399	0.21845	0.0:0.5109:0.2592:0.2298	.	456	P00390	GSHR_HUMAN	R	456;413;427;403;374	ENSP00000221130:K456R;ENSP00000390065:K413R;ENSP00000445516:K427R;ENSP00000444559:K403R;ENSP00000438845:K374R	ENSP00000221130:K456R	K	-	2	0	GSR	30658015	0.999000	0.42202	0.987000	0.45799	0.749000	0.42624	0.600000	0.24104	0.098000	0.17522	-0.256000	0.11100	AAA		0.363	GSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376519.1			
HSPA8	3312	broad.mit.edu;hgsc.bcm.edu	37	11	122930929	122930929	+	Silent	SNP	A	A	G			TCGA-B0-5699-01A-11D-1534-10	TCGA-B0-5699-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f114d9c-6672-4440-be2d-b0370a9e35f2	36406ad1-96ad-420f-8b28-5142618e35f6	g.chr11:122930929A>G	ENST00000532636.1	-	4	578	c.459T>C	c.(457-459)tcT>tcC	p.S153S	HSPA8_ENST00000453788.2_Silent_p.S153S|HSPA8_ENST00000533540.1_Intron|SNORD14E_ENST00000364009.1_RNA|HSPA8_ENST00000526862.1_5'UTR|HSPA8_ENST00000227378.3_Silent_p.S153S|HSPA8_ENST00000534319.1_5'UTR|HSPA8_ENST00000534624.1_Silent_p.S153S|SNORD14C_ENST00000365382.1_RNA|HSPA8_ENST00000526110.1_Intron|SNORD14D_ENST00000384390.1_RNA			P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	153					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone mediated protein folding requiring cofactor (GO:0051085)|clathrin coat disassembly (GO:0072318)|gene expression (GO:0010467)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|negative regulation of fibril organization (GO:1902904)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotransmitter secretion (GO:0007269)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein refolding (GO:0042026)|regulation of cell cycle (GO:0051726)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	blood microparticle (GO:0072562)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Prp19 complex (GO:0000974)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)	p.S153S(1)		breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		CCTGACGCTGAGAGTCATTAA	0.408																																					Colon(21;486 594 5900 6733 14272)												1	Substitution - coding silent(1)	kidney(1)											75.0	71.0	73.0					11																	122930929		2202	4297	6499	SO:0001819	synonymous_variant	3312			Y00371	CCDS8440.1, CCDS44754.1	11q24.1	2011-09-02	2002-08-29		ENSG00000109971	ENSG00000109971		"""Heat shock proteins / HSP70"""	5241	protein-coding gene	gene with protein product		600816	"""heat shock 70kD protein 8"""	HSPA10		8530083, 3037489	Standard	NM_006597		Approved	HSC71, HSC70, HSP73	uc001pyo.3	P11142	OTTHUMG00000166030	ENST00000532636.1:c.459T>C	11.37:g.122930929A>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q9H3R6	Silent	SNP	ENST00000532636.1	37	CCDS8440.1																																																																																				0.408	HSPA8-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387515.1			
KIAA1468	57614	broad.mit.edu;hgsc.bcm.edu	37	18	59854885	59854885	+	Silent	SNP	T	T	G			TCGA-B0-5699-01A-11D-1534-10	TCGA-B0-5699-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f114d9c-6672-4440-be2d-b0370a9e35f2	36406ad1-96ad-420f-8b28-5142618e35f6	g.chr18:59854885T>G	ENST00000398130.2	+	1	379	c.147T>G	c.(145-147)ccT>ccG	p.P49P	PIGN_ENST00000357637.5_5'Flank|PIGN_ENST00000400334.3_5'Flank|PIGN_ENST00000593225.1_5'Flank|KIAA1468_ENST00000256858.6_Silent_p.P49P	NM_020854.3	NP_065905.2	Q9P260	K1468_HUMAN	KIAA1468	49								p.P49P(1)		autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				GCCTAGATCCTGGCTCTGCGG	0.657																																																	1	Substitution - coding silent(1)	kidney(1)											56.0	68.0	64.0					18																	59854885		2016	4158	6174	SO:0001819	synonymous_variant	57614			BC011992	CCDS11979.2	18q21.33	2005-11-03			ENSG00000134444	ENSG00000134444			29289	protein-coding gene	gene with protein product						11973628	Standard	NM_020854		Approved	HsT885, HsT3308, FLJ33841	uc002lil.3	Q9P260	OTTHUMG00000132780	ENST00000398130.2:c.147T>G	18.37:g.59854885T>G		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000398130.2	37	CCDS11979.2																																																																																				0.657	KIAA1468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256187.1		NM_020854	
MAGEC1	9947	hgsc.bcm.edu	37	X	140993904	140993906	+	In_Frame_Del	DEL	CCC	CCC	-	rs146816736|rs176040	byFrequency	TCGA-B0-5699-01A-11D-1534-10	TCGA-B0-5699-11A-01D-1534-10	CCC	CCC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f114d9c-6672-4440-be2d-b0370a9e35f2	36406ad1-96ad-420f-8b28-5142618e35f6	g.chrX:140993904_140993906delCCC	ENST00000285879.4	+	4	1000_1002	c.714_716delCCC	c.(712-717)agcccc>agc	p.P239del	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	239				P -> S (in Ref. 1 and 2). {ECO:0000305}.				p.P239S(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TTCCTGTGAGCCCCTCCTCCTCC	0.478										HNSCC(15;0.026)																																							2	Substitution - Missense(2)	stomach(2)																																								SO:0001651	inframe_deletion	9947			AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.714_716delCCC	X.37:g.140993904_140993906delCCC	ENSP00000285879:p.Pro239del	Somatic		WXS	Illumina HiSeq	Phase_I	A0PK03|O75451|Q8TCV4	In_Frame_Del	DEL	ENST00000285879.4	37	CCDS35417.1																																																																																				0.478	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1		NM_005462	
MUC4	4585	hgsc.bcm.edu	37	3	195512550	195512597	+	In_Frame_Del	DEL	GGTGGCGTGACCTGTGGGTACTGAGGAAGCGTCGGTGACAGGAAGAGG	GGTGGCGTGACCTGTGGGTACTGAGGAAGCGTCGGTGACAGGAAGAGG	-	rs6799339|rs71254296|rs150659095|rs558165743|rs576374543|rs537525175|rs566422076|rs199625793|rs539429280	byFrequency	TCGA-B0-5699-01A-11D-1534-10	TCGA-B0-5699-11A-01D-1534-10	GGTGGCGTGACCTGTGGGTACTGAGGAAGCGTCGGTGACAGGAAGAGG	GGTGGCGTGACCTGTGGGTACTGAGGAAGCGTCGGTGACAGGAAGAGG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f114d9c-6672-4440-be2d-b0370a9e35f2	36406ad1-96ad-420f-8b28-5142618e35f6	g.chr3:195512550_195512597delGGTGGCGTGACCTGTGGGTACTGAGGAAGCGTCGGTGACAGGAAGAGG	ENST00000463781.3	-	2	6313_6360	c.5854_5901delCCTCTTCCTGTCACCGACGCTTCCTCAGTACCCACAGGTCACGCCACC	c.(5854-5901)cctcttcctgtcaccgacgcttcctcagtacccacaggtcacgccaccdel	p.PLPVTDASSVPTGHAT1952del	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_In_Frame_Del_p.PLPVTDASSVPTGHAT1952del|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.P1952_T1967delPLPVTDASSVPTGHAT(4)|p.P1952S(1)|p.V1961V(1)|p.P1962S(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CAGGAAGAGAGGTGGCGTGACCTGTGGGTACTGAGGAAGCGTCGGTGACAGGAAGAGGGGTGGTGTGA	0.601																																																	7	Deletion - In frame(4)|Substitution - Missense(2)|Substitution - coding silent(1)	stomach(4)|endometrium(3)																																								SO:0001651	inframe_deletion	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.5854_5901delCCTCTTCCTGTCACCGACGCTTCCTCAGTACCCACAGGTCACGCCACC	3.37:g.195512550_195512597delGGTGGCGTGACCTGTGGGTACTGAGGAAGCGTCGGTGACAGGAAGAGG	ENSP00000417498:p.Pro1952_Thr1967del	Somatic		WXS	Illumina HiSeq	Phase_I	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	In_Frame_Del	DEL	ENST00000463781.3	37	CCDS54700.1																																																																																				0.601	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6		NM_018406	
NAT9	26151	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	72769713	72769713	+	Splice_Site	SNP	A	A	G			TCGA-B0-5699-01A-11D-1534-10	TCGA-B0-5699-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f114d9c-6672-4440-be2d-b0370a9e35f2	36406ad1-96ad-420f-8b28-5142618e35f6	g.chr17:72769713A>G	ENST00000357814.3	-	3	264		c.e3+1		NAT9_ENST00000582870.1_Splice_Site|NAT9_ENST00000580301.1_Splice_Site|NAT9_ENST00000583476.1_Splice_Site|TMEM104_ENST00000335464.5_5'Flank|TMEM104_ENST00000582773.1_5'Flank|NAT9_ENST00000580632.1_Splice_Site|NAT9_ENST00000580216.1_Splice_Site|NAT9_ENST00000581136.1_Splice_Site|NAT9_ENST00000583757.1_Splice_Site|NAT9_ENST00000578822.1_Splice_Site|TMEM104_ENST00000582330.1_5'Flank|NAT9_ENST00000582524.1_Splice_Site|TMEM104_ENST00000417024.2_5'Flank	NM_015654.3	NP_056469.2	Q9BTE0	NAT9_HUMAN	N-acetyltransferase 9 (GCN5-related, putative)							protein complex (GO:0043234)	N-acetyltransferase activity (GO:0008080)	p.?(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)	8						GGCACTCCTCACTGTCTGCAT	0.612																																																	1	Unknown(1)	kidney(1)											89.0	78.0	82.0					17																	72769713		2203	4300	6503	SO:0001630	splice_region_variant	26151			AK123115	CCDS11706.1	17q25.2	2011-11-25	2008-09-24		ENSG00000109065	ENSG00000109065			23133	protein-coding gene	gene with protein product			"""N-acetyltransferase 9"""			14608357	Standard	NM_015654		Approved	DKFZP564C103	uc002jlq.3	Q9BTE0		ENST00000357814.3:c.190+1T>C	17.37:g.72769713A>G		Somatic		WXS	Illumina HiSeq	Phase_I	B2R7F0|Q9BTD0|Q9Y3T3	Splice_Site	SNP	ENST00000357814.3	37	CCDS11706.1	.	.	.	.	.	.	.	.	.	.	A	14.93	2.681895	0.47991	.	.	ENSG00000109065	ENST00000357814	.	.	.	4.89	4.89	0.63831	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8053	0.69948	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NAT9	70281308	1.000000	0.71417	1.000000	0.80357	0.396000	0.30629	9.248000	0.95456	1.953000	0.56701	0.379000	0.24179	.		0.612	NAT9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000443700.1		NM_015654	Intron
NAV2	89797	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	19955242	19955243	+	Missense_Mutation	DNP	CA	CA	AT			TCGA-B0-5699-01A-11D-1534-10	TCGA-B0-5699-11A-01D-1534-10	C|A	C|A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f114d9c-6672-4440-be2d-b0370a9e35f2	36406ad1-96ad-420f-8b28-5142618e35f6	g.chr11:19955242_19955243CA>AT	ENST00000396087.3	+	8	1620_1621	c.1521_1522CA>AT	c.(1519-1524)ggCAat>ggATat	p.N508Y	NAV2_ENST00000527559.2_Missense_Mutation_p.N437Y|NAV2_ENST00000360655.4_Missense_Mutation_p.N421Y|NAV2_ENST00000349880.4_Missense_Mutation_p.N485Y|NAV2_ENST00000396085.1_Missense_Mutation_p.N485Y|NAV2_ENST00000540292.1_Missense_Mutation_p.N439Y	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	508					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)	p.N508Y(1)|p.G507G(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CTCTgaaaggcaatgagaaaga	0.54																																																	2	Substitution - Missense(1)|Substitution - coding silent(1)	kidney(2)																																								SO:0001583	missense	89797			AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	Exception_encountered	11.37:g.19955242_19955243delinsAT	ENSP00000379396:p.Asn508Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Silent|Missense_Mutation	SNP	ENST00000396087.3	37	CCDS58126.1																																																																																				0.540	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1		NM_145117	
NOP14	8602	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	2948137	2948137	+	Splice_Site	SNP	A	A	G			TCGA-B0-5699-01A-11D-1534-10	TCGA-B0-5699-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f114d9c-6672-4440-be2d-b0370a9e35f2	36406ad1-96ad-420f-8b28-5142618e35f6	g.chr4:2948137A>G	ENST00000314262.6	-	11	1684		c.e11+1		NOP14-AS1_ENST00000507702.1_RNA|NOP14-AS1_ENST00000505731.1_RNA|NOP14_ENST00000416614.2_Splice_Site|NOP14-AS1_ENST00000503709.1_RNA|NOP14_ENST00000502735.1_Splice_Site|NOP14-AS1_ENST00000515194.1_RNA|NOP14_ENST00000398071.4_Splice_Site	NM_003703.1	NP_003694.1	P78316	NOP14_HUMAN	NOP14 nucleolar protein						endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|membrane (GO:0016020)|mitochondrion (GO:0005739)|Noc4p-Nop14p complex (GO:0030692)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small-subunit processome (GO:0032040)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)	p.?(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						AACTCTGCTTACCACATCCAA	0.527																																																	1	Unknown(1)	kidney(1)											106.0	104.0	105.0					4																	2948137		2203	4300	6503	SO:0001630	splice_region_variant	8602			AB000467	CCDS33945.1	4p16.3	2012-12-10	2012-12-10	2008-10-13	ENSG00000087269	ENSG00000087269			16821	protein-coding gene	gene with protein product	"""NOP14 homolog (S. cerevisiae)"""	611526	"""chromosome 4 open reading frame 9"", ""nucleolar protein 14"", ""nucleolar protein 14 homolog (yeast)"", ""NOP14 nucleolar protein homolog (yeast)"""	C4orf9, NOL14		9734812, 11694595	Standard	XR_241655		Approved	RES4-25, UTP2	uc003ggj.1	P78316	OTTHUMG00000159911	ENST00000314262.6:c.1635+1T>C	4.37:g.2948137A>G		Somatic		WXS	Illumina HiSeq	Phase_I	D3DVR6|Q7LGI5|Q7Z6K0|Q8TBR6	Splice_Site	SNP	ENST00000314262.6	37	CCDS33945.1	.	.	.	.	.	.	.	.	.	.	A	10.71	1.425712	0.25639	.	.	ENSG00000087269	ENST00000416614;ENST00000314262;ENST00000502735;ENST00000398071;ENST00000546137	.	.	.	4.75	4.75	0.60458	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9117	0.63871	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NOP14	2917935	1.000000	0.71417	0.980000	0.43619	0.048000	0.14542	8.514000	0.90545	1.789000	0.52484	0.402000	0.26972	.		0.527	NOP14-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358135.2		NM_003703	Intron
PBRM1	55193	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52649451	52649451	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5699-01A-11D-1534-10	TCGA-B0-5699-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f114d9c-6672-4440-be2d-b0370a9e35f2	36406ad1-96ad-420f-8b28-5142618e35f6	g.chr3:52649451G>C	ENST00000296302.7	-	15	1841	c.1840C>G	c.(1840-1842)Ctg>Gtg	p.L614V	PBRM1_ENST00000356770.4_Missense_Mutation_p.L582V|PBRM1_ENST00000337303.4_Missense_Mutation_p.L614V|PBRM1_ENST00000409114.3_Missense_Mutation_p.L629V|PBRM1_ENST00000409767.1_Missense_Mutation_p.L629V|PBRM1_ENST00000409057.1_Missense_Mutation_p.L614V|PBRM1_ENST00000410007.1_Missense_Mutation_p.L614V|PBRM1_ENST00000394830.3_Missense_Mutation_p.L614V			Q86U86	PB1_HUMAN	polybromo 1	614					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.L614V(2)|p.L582V(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		AACTTCTCCAGGATATGTGCA	0.368			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																			Rec	yes		3	3p21	55193	polybromo 1		E	3	Substitution - Missense(3)	kidney(3)											107.0	98.0	101.0					3																	52649451		2203	4300	6503	SO:0001583	missense	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.1840C>G	3.37:g.52649451G>C	ENSP00000296302:p.Leu614Val	Somatic		WXS	Illumina HiSeq	Phase_I	A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	G	16.30	3.084082	0.55861	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	T;T;T;T;T;T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52;1.52;1.52;1.52;1.52;1.52	5.69	4.81	0.61882	Bromodomain (3);	0.000000	0.85682	D	0.000000	T	0.42743	0.1216	L	0.34521	1.04	0.54753	D	0.999989	D;D;D;D;D;D;D;D;D	0.76494	0.998;0.998;0.967;0.996;0.987;0.997;0.999;0.995;0.995	D;D;D;D;D;D;D;D;D	0.81914	0.988;0.995;0.946;0.983;0.963;0.995;0.99;0.975;0.975	T	0.37663	-0.9696	10	0.87932	D	0	0.2985	11.3042	0.49325	0.1446:0.0:0.8554:0.0	.	614;614;614;614;629;629;614;582;614	Q86U86-9;Q86U86-6;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;.;PB1_HUMAN;.;.	V	582;614;614;614;614;614;629;629;614;573	ENSP00000349213:L582V;ENSP00000378307:L614V;ENSP00000296302:L614V;ENSP00000338302:L614V;ENSP00000386593:L614V;ENSP00000386529:L614V;ENSP00000386643:L629V;ENSP00000386601:L629V;ENSP00000387775:L614V;ENSP00000397662:L573V	ENSP00000296302:L614V	L	-	1	2	PBRM1	52624491	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	4.923000	0.63412	1.409000	0.46915	0.462000	0.41574	CTG		0.368	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1		NM_018165	
PCDHGB4	8641	broad.mit.edu;hgsc.bcm.edu	37	5	140769724	140769724	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5699-01A-11D-1534-10	TCGA-B0-5699-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f114d9c-6672-4440-be2d-b0370a9e35f2	36406ad1-96ad-420f-8b28-5142618e35f6	g.chr5:140769724G>C	ENST00000519479.1	+	1	2273	c.2273G>C	c.(2272-2274)gGa>gCa	p.G758A	PCDHGA8_ENST00000398604.2_5'Flank|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4	758					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G758A(1)		endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCACATACAGGAAAGACGGAG	0.443																																																	1	Substitution - Missense(1)	kidney(1)											274.0	276.0	275.0					5																	140769724		1912	4139	6051	SO:0001583	missense	8641			AF152520	CCDS54928.1, CCDS75337.1	5q31	2010-01-26				ENSG00000253953		"""Cadherins / Protocadherins : Clustered"""	8711	other	protocadherin	"""fibroblast cadherin FIB2"", ""cadherin 20"""	603058				10380929	Standard	NM_003736		Approved	FIB2, CDH20, PCDH-GAMMA-B4		Q9UN71		ENST00000519479.1:c.2273G>C	5.37:g.140769724G>C	ENSP00000428288:p.Gly758Ala	Somatic		WXS	Illumina HiSeq	Phase_I	O15099|Q2M267|Q9UN64	Missense_Mutation	SNP	ENST00000519479.1	37	CCDS54928.1	.	.	.	.	.	.	.	.	.	.	.	0.042	-1.282039	0.01398	.	.	ENSG00000253953	ENST00000519479	T	0.44881	0.91	5.55	3.77	0.43336	.	.	.	.	.	T	0.25606	0.0623	N	0.16790	0.44	0.25310	N	0.989204	B;B	0.14012	0.007;0.009	B;B	0.20577	0.03;0.008	T	0.22103	-1.0226	9	0.10111	T	0.7	.	11.0238	0.47732	0.1543:0.0:0.8457:0.0	.	758;758	Q9UN71-2;Q9UN71	.;PCDGG_HUMAN	A	758	ENSP00000428288:G758A	ENSP00000428288:G758A	G	+	2	0	PCDHGB4	140749908	0.629000	0.27146	0.604000	0.28916	0.036000	0.12997	1.999000	0.40806	0.708000	0.31955	-0.251000	0.11542	GGA		0.443	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374745.1		NM_003736	
PCMT1	5110	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	150094281	150094281	+	Silent	SNP	A	A	G			TCGA-B0-5699-01A-11D-1534-10	TCGA-B0-5699-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f114d9c-6672-4440-be2d-b0370a9e35f2	36406ad1-96ad-420f-8b28-5142618e35f6	g.chr6:150094281A>G	ENST00000367380.5	+	3	375	c.168A>G	c.(166-168)caA>caG	p.Q56Q	PCMT1_ENST00000544496.1_Silent_p.Q21Q|PCMT1_ENST00000367378.1_Silent_p.Q114Q|PCMT1_ENST00000464889.1_Silent_p.Q114Q|PCMT1_ENST00000367384.2_Silent_p.Q114Q	NM_001252049.1|NM_001252050.1|NM_001252051.1|NM_001252052.1|NM_005389.2	NP_001238978.1|NP_001238979.1|NP_001238980.1|NP_001238981.1|NP_005380.2	P22061	PIMT_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase	56					protein methylation (GO:0006479)|protein repair (GO:0030091)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)	p.Q56Q(1)		kidney(1)|large_intestine(2)|lung(4)|ovary(1)	8		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.221)	OV - Ovarian serous cystadenocarcinoma(155;5.63e-13)|GBM - Glioblastoma multiforme(68;0.207)		CAGGTTTCCAAGCAACAATCA	0.303																																																	1	Substitution - coding silent(1)	kidney(1)											125.0	131.0	129.0					6																	150094281		2203	4300	6503	SO:0001819	synonymous_variant	5110				CCDS5219.1, CCDS5219.2, CCDS59041.1, CCDS75533.1, CCDS75534.1	6q22.3-q24	2008-02-05			ENSG00000120265	ENSG00000120265	2.1.1.77		8728	protein-coding gene	gene with protein product		176851				1478665, 10343128	Standard	NM_005389		Approved		uc003qne.3	P22061	OTTHUMG00000015794	ENST00000367380.5:c.168A>G	6.37:g.150094281A>G		Somatic		WXS	Illumina HiSeq	Phase_I	A8K109|J3KP72|Q14661|Q16556|Q5VYC1|Q5VYC2|Q93061|Q96II9|Q99625|Q9BQV7|Q9BQV8|Q9NP03	Silent	SNP	ENST00000367380.5	37																																																																																					0.303	PCMT1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				
PDE4DIP	9659	broad.mit.edu;hgsc.bcm.edu	37	1	144922040	144922040	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5699-01A-11D-1534-10	TCGA-B0-5699-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f114d9c-6672-4440-be2d-b0370a9e35f2	36406ad1-96ad-420f-8b28-5142618e35f6	g.chr1:144922040T>C	ENST00000369354.3	-	9	1178	c.989A>G	c.(988-990)gAg>gGg	p.E330G	PDE4DIP_ENST00000313431.9_Missense_Mutation_p.E493G|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.E330G|PDE4DIP_ENST00000529945.1_Missense_Mutation_p.E493G|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.E330G|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.E330G|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.E396G|PDE4DIP_ENST00000479408.2_Missense_Mutation_p.E117G|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.E467G|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.E467G			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	330					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)	p.E330G(2)|p.E493G(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		AGAAGTACCCTCTGAGCTCTG	0.453			T	PDGFRB	MPD																																			Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	3	Substitution - Missense(3)	kidney(3)											112.0	122.0	119.0					1																	144922040		2203	4298	6501	SO:0001583	missense	9659			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.989A>G	1.37:g.144922040T>C	ENSP00000358360:p.Glu330Gly	Somatic		WXS	Illumina HiSeq	Phase_I	A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	T	11.71	1.719835	0.30503	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000369353;ENST00000530740;ENST00000369359;ENST00000369351;ENST00000369349;ENST00000313431;ENST00000529945;ENST00000479408	T;T;T;T;T;T;T;T;T;T	0.19105	4.21;4.22;4.18;4.3;4.29;3.3;3.31;2.29;2.3;2.17	5.82	4.68	0.58851	.	.	.	.	.	T	0.26557	0.0649	M	0.69823	2.125	0.31018	N	0.718435	P;B;D;D;P	0.61697	0.649;0.015;0.957;0.99;0.653	B;B;P;P;B	0.59288	0.398;0.012;0.619;0.855;0.219	T	0.15578	-1.0432	9	0.87932	D	0	.	11.3377	0.49513	0.0:0.0:0.1525:0.8475	.	493;330;493;396;330	E9PL24;Q5VU43-7;Q5VU43-2;Q5VU43-3;Q5VU43	.;.;.;.;MYOME_HUMAN	G	396;330;330;493;467;467;330;330;493;493;117	ENSP00000327209:E396G;ENSP00000358360:E330G;ENSP00000358363:E330G;ENSP00000435654:E467G;ENSP00000358366:E467G;ENSP00000358357:E330G;ENSP00000358355:E330G;ENSP00000316434:E493G;ENSP00000433392:E493G;ENSP00000436791:E117G	ENSP00000327209:E396G	E	-	2	0	PDE4DIP	143633397	0.990000	0.36364	0.013000	0.15412	0.066000	0.16364	4.068000	0.57534	1.007000	0.39238	0.528000	0.53228	GAG		0.453	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2		NM_022359	
PLXNA1	5361	broad.mit.edu;ucsc.edu	37	3	126707667	126707667	+	Silent	SNP	C	C	T			TCGA-B0-5699-01A-11D-1534-10	TCGA-B0-5699-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f114d9c-6672-4440-be2d-b0370a9e35f2	36406ad1-96ad-420f-8b28-5142618e35f6	g.chr3:126707667C>T	ENST00000393409.2	+	1	231	c.231C>T	c.(229-231)aaC>aaT	p.N77N	PLXNA1_ENST00000251772.4_Silent_p.N54N	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	77	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)	p.N54N(1)		breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		TGTCGGGGAACCTGACACTGC	0.657																																																	1	Substitution - coding silent(1)	kidney(1)											80.0	69.0	72.0					3																	126707667		2203	4300	6503	SO:0001819	synonymous_variant	5361			X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.231C>T	3.37:g.126707667C>T		Somatic		WXS	Illumina GAIIx	Phase_I		Silent	SNP	ENST00000393409.2	37	CCDS33847.2																																																																																				0.657	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1		NM_032242	
PTK2B	2185	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	27296898	27296898	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5699-01A-11D-1534-10	TCGA-B0-5699-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f114d9c-6672-4440-be2d-b0370a9e35f2	36406ad1-96ad-420f-8b28-5142618e35f6	g.chr8:27296898G>A	ENST00000397501.1	+	25	2625	c.1817G>A	c.(1816-1818)aGt>aAt	p.S606N	PTK2B_ENST00000517339.1_Missense_Mutation_p.S606N|PTK2B_ENST00000338238.4_Missense_Mutation_p.S606N|PTK2B_ENST00000346049.5_Missense_Mutation_p.S606N|PTK2B_ENST00000397497.4_Missense_Mutation_p.S352N|PTK2B_ENST00000420218.2_Missense_Mutation_p.S606N|PTK2B_ENST00000544172.1_Missense_Mutation_p.S606N	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	606	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of Janus kinase activity (GO:0042976)|activation of Rac GTPase activity (GO:0032863)|apoptotic process (GO:0006915)|blood vessel endothelial cell migration (GO:0043534)|bone resorption (GO:0045453)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|cellular response to retinoic acid (GO:0071300)|chemokine-mediated signaling pathway (GO:0070098)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|glial cell proliferation (GO:0014009)|integrin-mediated signaling pathway (GO:0007229)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term synaptic potentiation (GO:0060291)|MAPK cascade (GO:0000165)|marginal zone B cell differentiation (GO:0002315)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of potassium ion transport (GO:0043267)|neuron projection development (GO:0031175)|oocyte maturation (GO:0001556)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell chemotaxis (GO:2000538)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of establishment of cell polarity (GO:2000114)|regulation of inositol trisphosphate biosynthetic process (GO:0032960)|regulation of macrophage chemotaxis (GO:0010758)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000058)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hormone (GO:0009725)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to osmotic stress (GO:0006970)|response to stress (GO:0006950)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|stress fiber assembly (GO:0043149)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	apical dendrite (GO:0097440)|axon (GO:0030424)|cell body (GO:0044297)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)	p.S606N(2)|p.S352N(1)		breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	Leflunomide(DB01097)	ACGACAGCCAGTGACGTCTGG	0.527																																																	3	Substitution - Missense(3)	kidney(3)											87.0	79.0	82.0					8																	27296898		2203	4300	6503	SO:0001583	missense	2185			U33284	CCDS6057.1, CCDS6058.1	8p21.1	2013-02-18	2013-02-18		ENSG00000120899	ENSG00000120899			9612	protein-coding gene	gene with protein product		601212	"""protein tyrosine kinase 2 beta"", ""PTK2B protein tyrosine kinase 2 beta"""	FAK2		7544443, 7499242	Standard	NM_173174		Approved	CAKB, PYK2, RAFTK, PTK, CADTK	uc003xfp.2	Q14289	OTTHUMG00000102082	ENST00000397501.1:c.1817G>A	8.37:g.27296898G>A	ENSP00000380638:p.Ser606Asn	Somatic		WXS	Illumina HiSeq	Phase_I	D3DST0|Q13475|Q14290|Q16709|Q6PID4	Missense_Mutation	SNP	ENST00000397501.1	37	CCDS6057.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.649946	0.87958	.	.	ENSG00000120899	ENST00000397501;ENST00000539100;ENST00000338238;ENST00000544172;ENST00000346049;ENST00000420218;ENST00000517339;ENST00000397497	D;D;D;D;D;D;D	0.89343	-2.5;-2.5;-2.5;-2.5;-2.5;-2.5;-2.5	5.79	5.79	0.91817	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.96614	0.8895	H	0.97186	3.955	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.85130	0.997;0.949;0.986	D	0.97619	1.0134	10	0.87932	D	0	.	17.5338	0.87822	0.0:0.0:1.0:0.0	.	352;606;606	E9PBI4;Q14289-2;Q14289	.;.;FAK2_HUMAN	N	606;611;606;606;606;606;606;352	ENSP00000380638:S606N;ENSP00000342242:S606N;ENSP00000440926:S606N;ENSP00000332816:S606N;ENSP00000391995:S606N;ENSP00000427931:S606N;ENSP00000380634:S352N	ENSP00000342242:S606N	S	+	2	0	PTK2B	27352815	1.000000	0.71417	0.994000	0.49952	0.526000	0.34562	9.869000	0.99810	2.733000	0.93635	0.655000	0.94253	AGT		0.527	PTK2B-009	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219916.1		NM_004103	
RPL3	6122	broad.mit.edu;ucsc.edu	37	22	39709724	39709724	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5699-01A-11D-1534-10	TCGA-B0-5699-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f114d9c-6672-4440-be2d-b0370a9e35f2	36406ad1-96ad-420f-8b28-5142618e35f6	g.chr22:39709724A>T	ENST00000216146.4	-	8	1135	c.962T>A	c.(961-963)gTc>gAc	p.V321D	SNORD83A_ENST00000386747.1_RNA|RPL3_ENST00000465618.1_5'UTR|SNORD83B_ENST00000386745.1_RNA|RPL3_ENST00000401609.1_Missense_Mutation_p.V269D	NM_000967.3|NM_001033853.1	NP_000958.1|NP_001029025.1	P39023	RL3_HUMAN	ribosomal protein L3	321					cellular protein metabolic process (GO:0044267)|cellular response to interleukin-4 (GO:0071353)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.V321D(1)		breast(1)|kidney(4)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Melanoma(58;0.04)				Homoharringtonine(DB04865)	ACCATAGTGGACAAAGCCACC	0.587																																																	1	Substitution - Missense(1)	kidney(1)											149.0	153.0	152.0					22																	39709724		2203	4300	6503	SO:0001583	missense	6122			AB007166	CCDS13988.1	22q13	2011-04-06			ENSG00000100316	ENSG00000100316		"""L ribosomal proteins"""	10332	protein-coding gene	gene with protein product		604163				2891103, 9582194	Standard	NM_000967		Approved	L3	uc003axi.3	P39023	OTTHUMG00000151079	ENST00000216146.4:c.962T>A	22.37:g.39709724A>T	ENSP00000346001:p.Val321Asp	Somatic		WXS	Illumina GAIIx	Phase_I	B2RDV9|Q15548|Q5I0G0	Missense_Mutation	SNP	ENST00000216146.4	37	CCDS13988.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.001979	0.74932	.	.	ENSG00000100316	ENST00000401609;ENST00000216146;ENST00000402527	T;T;T	0.49139	0.79;0.79;0.79	5.18	5.18	0.71444	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.000000	0.85682	D	0.000000	T	0.72087	0.3417	M	0.90309	3.105	0.80722	D	1	D;D;D;D	0.64830	0.974;0.962;0.994;0.962	P;P;D;P	0.63192	0.725;0.5;0.912;0.868	T	0.79125	-0.1932	10	0.66056	D	0.02	.	15.039	0.71774	1.0:0.0:0.0:0.0	.	292;269;321;272	Q8TBW1;G5E9G0;P39023;B3KS36	.;.;RL3_HUMAN;.	D	269;321;269	ENSP00000386101:V269D;ENSP00000346001:V321D;ENSP00000385762:V269D	ENSP00000346001:V321D	V	-	2	0	RPL3	38039670	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.570000	0.82390	1.968000	0.57251	0.459000	0.35465	GTC		0.587	RPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321196.1		NM_000967	
SETD2	29072	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	47164498	47164498	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B0-5699-01A-11D-1534-10	TCGA-B0-5699-11A-01D-1534-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	2f114d9c-6672-4440-be2d-b0370a9e35f2	36406ad1-96ad-420f-8b28-5142618e35f6	g.chr3:47164498G>T	ENST00000409792.3	-	3	1670	c.1628C>A	c.(1627-1629)tCa>tAa	p.S543*		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	543					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)	p.S40*(1)|p.S543*(1)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		AGAATATGATGACCCTCGTCG	0.348			"""N, F, S, Mis"""		clear cell renal carcinoma																																			Rec	yes		3	3p21.31	29072	SET domain containing 2		E	2	Substitution - Nonsense(2)	kidney(2)											105.0	106.0	106.0					3																	47164498		2201	4298	6499	SO:0001587	stop_gained	29072			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.1628C>A	3.37:g.47164498G>T	ENSP00000386759:p.Ser543*	Somatic		WXS	Illumina HiSeq	Phase_I	O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Nonsense_Mutation	SNP	ENST00000409792.3	37	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	G	33	5.201479	0.94997	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792;ENST00000412450	.	.	.	5.24	4.37	0.52481	.	0.268689	0.26496	N	0.024058	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.0869	0.42423	0.0721:0.1364:0.7915:0.0	.	.	.	.	X	543;543;543;499	.	.	S	-	2	0	SETD2	47139502	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.671000	0.54576	1.581000	0.49865	-0.143000	0.13931	TCA		0.348	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2		NM_014159	
SCAF4	57466	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	33076230	33076230	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5699-01A-11D-1534-10	TCGA-B0-5699-11A-01D-1534-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	2f114d9c-6672-4440-be2d-b0370a9e35f2	36406ad1-96ad-420f-8b28-5142618e35f6	g.chr21:33076230C>G	ENST00000286835.7	-	4	551	c.169G>C	c.(169-171)Gaa>Caa	p.E57Q	SCAF4_ENST00000434667.3_Missense_Mutation_p.E42Q|SCAF4_ENST00000399804.1_Missense_Mutation_p.E57Q	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	57	CID. {ECO:0000255|PROSITE- ProRule:PRU00724}.					nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.E57Q(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						ACCTTGTATTCTGGTTTACAC	0.348																																																	1	Substitution - Missense(1)	kidney(1)											73.0	68.0	70.0					21																	33076230		2203	4300	6503	SO:0001583	missense	0			AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"""RNA binding motif (RRM) containing"""	19304	protein-coding gene	gene with protein product			"""splicing factor, arginine/serine-rich 15"""	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.169G>C	21.37:g.33076230C>G	ENSP00000286835:p.Glu57Gln	Somatic		WXS	Illumina HiSeq	Phase_I	C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Missense_Mutation	SNP	ENST00000286835.7	37	CCDS33537.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.420770	0.83559	.	.	ENSG00000156304	ENST00000434667;ENST00000286835;ENST00000399804	T;T;T	0.47869	0.83;0.83;0.83	5.83	5.83	0.93111	ENTH/VHS (2);RNA polymerase II, large subunit, CTD (2);	0.000000	0.85682	D	0.000000	T	0.72558	0.3475	M	0.80508	2.5	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.77004	0.975;0.975;0.989;0.975	T	0.73978	-0.3812	10	0.62326	D	0.03	-21.6232	20.1338	0.98010	0.0:1.0:0.0:0.0	.	42;57;57;57	C9JLZ0;Q0P607;O95104-2;O95104	.;.;.;SFR15_HUMAN	Q	42;57;57	ENSP00000402377:E42Q;ENSP00000286835:E57Q;ENSP00000382703:E57Q	ENSP00000286835:E57Q	E	-	1	0	SCAF4	31998101	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.818000	0.86416	2.770000	0.95276	0.655000	0.94253	GAA		0.348	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000192659.1		XM_047889	
SLC25A40	55972	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	87483612	87483612	+	Silent	SNP	T	T	C	rs539675158	byFrequency	TCGA-B0-5699-01A-11D-1534-10	TCGA-B0-5699-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f114d9c-6672-4440-be2d-b0370a9e35f2	36406ad1-96ad-420f-8b28-5142618e35f6	g.chr7:87483612T>C	ENST00000341119.5	-	5	517	c.171A>G	c.(169-171)gtA>gtG	p.V57V		NM_018843.3	NP_061331.2	Q8TBP6	S2540_HUMAN	solute carrier family 25, member 40	57					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)		p.V57V(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	17	Esophageal squamous(14;0.00202)					CATTACTATATACAAAACATT	0.353													T|||	2	0.000399361	0.0015	0.0	5008	,	,		15278	0.0		0.0	False		,,,				2504	0.0																1	Substitution - coding silent(1)	kidney(1)											127.0	119.0	122.0					7																	87483612		2203	4300	6503	SO:0001819	synonymous_variant	55972			AF125531	CCDS5610.1	7q21.12	2013-05-22			ENSG00000075303	ENSG00000075303		"""Solute carriers"""	29680	protein-coding gene	gene with protein product		610821				16949250	Standard	NM_018843		Approved	MCFP	uc003uje.3	Q8TBP6	OTTHUMG00000131033	ENST00000341119.5:c.171A>G	7.37:g.87483612T>C		Somatic		WXS	Illumina HiSeq	Phase_I	A8K483|D6W5P6|Q53GB1|Q9UHR1	Silent	SNP	ENST00000341119.5	37	CCDS5610.1																																																																																				0.353	SLC25A40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253677.5		NM_018843	
SLC25A6	293	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	1505637	1505637	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5699-01A-11D-1534-10	TCGA-B0-5699-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f114d9c-6672-4440-be2d-b0370a9e35f2	36406ad1-96ad-420f-8b28-5142618e35f6	g.chrX:1505637G>A	ENST00000381401.5	-	4	1469	c.755C>T	c.(754-756)aCg>aTg	p.T252M	SLC25A6_ENST00000475167.1_5'Flank	NM_001636.3	NP_001627.2	P12236	ADT3_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6	252					active induction of host immune response by virus (GO:0046732)|ADP transport (GO:0015866)|apoptotic process (GO:0006915)|ATP transport (GO:0015867)|cellular protein metabolic process (GO:0044267)|energy reserve metabolic process (GO:0006112)|modulation by virus of host morphology or physiology (GO:0019048)|protein targeting to mitochondrion (GO:0006626)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP:ADP antiporter activity (GO:0005471)	p.T252M(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Clodronate(DB00720)	GACGGTGCCCGTGTACATGAT	0.612																																																	1	Substitution - Missense(1)	kidney(1)											282.0	246.0	258.0					X																	1505637		2203	4296	6499	SO:0001583	missense	293			AY007135	CCDS14114.1	Xp22.32 and Yp11.3	2013-05-22			ENSG00000169100	ENSG00000169100		"""Pseudoautosomal regions / PAR1"", ""Solute carriers"""	10992	protein-coding gene	gene with protein product		300151, 403000		ANT3			Standard	NM_001636		Approved	ANT3Y, MGC17525	uc004cpt.3	P12236	OTTHUMG00000021058	ENST00000381401.5:c.755C>T	X.37:g.1505637G>A	ENSP00000370808:p.Thr252Met	Somatic		WXS	Illumina HiSeq	Phase_I	Q96C49	Missense_Mutation	SNP	ENST00000381401.5	37	CCDS14114.1	.	.	.	.	.	.	.	.	.	.	.	11.86	1.763918	0.31228	.	.	ENSG00000169100	ENST00000381401	T	0.80123	-1.34	1.82	-3.63	0.04529	Mitochondrial carrier domain (2);	0.464398	0.15260	U	0.271823	D	0.87188	0.6115	H	0.95437	3.67	0.09310	N	1	D	0.55385	0.971	P	0.53224	0.721	T	0.81138	-0.1069	10	0.87932	D	0	.	7.2021	0.25887	0.0:0.4267:0.2813:0.292	.	252	P12236	ADT3_HUMAN	M	252	ENSP00000370808:T252M	ENSP00000370808:T252M	T	-	2	0	SLC25A6	1465637	0.139000	0.22563	0.001000	0.08648	0.691000	0.40173	0.136000	0.15974	-2.485000	0.00520	-0.894000	0.02916	ACG		0.612	SLC25A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055596.1		NM_001636	
SYNGAP1	8831	broad.mit.edu;hgsc.bcm.edu	37	6	33408548	33408548	+	Silent	SNP	G	G	A			TCGA-B0-5699-01A-11D-1534-10	TCGA-B0-5699-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f114d9c-6672-4440-be2d-b0370a9e35f2	36406ad1-96ad-420f-8b28-5142618e35f6	g.chr6:33408548G>A	ENST00000418600.2	+	11	1820	c.1719G>A	c.(1717-1719)cgG>cgA	p.R573R	SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000293748.5_Silent_p.R573R|MIR5004_ENST00000579078.1_RNA|SYNGAP1_ENST00000428982.2_Silent_p.R514R	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	573	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)	p.R573R(1)|p.R558R(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						CTTCGTGGCGGCTGCGCTGCG	0.627																																																	2	Substitution - coding silent(2)	kidney(2)											30.0	29.0	29.0					6																	33408548		2202	4300	6502	SO:0001819	synonymous_variant	8831			AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"""synaptic Ras GTPase activating protein 1 homolog (rat)"""			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.1719G>A	6.37:g.33408548G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Silent	SNP	ENST00000418600.2	37	CCDS34434.2																																																																																				0.627	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076151.4		XM_166407	
SLC26A8	116369	broad.mit.edu;hgsc.bcm.edu	37	6	35922941	35922941	+	Silent	SNP	G	G	A	rs193054248		TCGA-B0-5699-01A-11D-1534-10	TCGA-B0-5699-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f114d9c-6672-4440-be2d-b0370a9e35f2	36406ad1-96ad-420f-8b28-5142618e35f6	g.chr6:35922941G>A	ENST00000490799.1	-	17	2573	c.2220C>T	c.(2218-2220)gtC>gtT	p.V740V	SLC26A8_ENST00000355574.2_Silent_p.V740V|SLC26A8_ENST00000394602.2_Silent_p.V635V	NM_052961.3	NP_443193.1			solute carrier family 26 (anion exchanger), member 8									p.V740V(3)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						GTCTTAATACGACTAACCCCC	0.512																																																	3	Substitution - coding silent(3)	lung(2)|kidney(1)											103.0	95.0	98.0					6																	35922941		2203	4300	6503	SO:0001819	synonymous_variant	116369			AF331522	CCDS4813.1, CCDS4814.1	6p21	2013-07-18	2013-07-18		ENSG00000112053	ENSG00000112053		"""Solute carriers"""	14468	protein-coding gene	gene with protein product		608480	"""solute carrier family 26, member 8"""			11834742, 11829495	Standard	NM_001193476		Approved		uc003olm.3	Q96RN1	OTTHUMG00000014586	ENST00000490799.1:c.2220C>T	6.37:g.35922941G>A		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000490799.1	37	CCDS4813.1																																																																																				0.512	SLC26A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040325.2			
SYT1	6857	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	79747321	79747321	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5699-01A-11D-1534-10	TCGA-B0-5699-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f114d9c-6672-4440-be2d-b0370a9e35f2	36406ad1-96ad-420f-8b28-5142618e35f6	g.chr12:79747321G>A	ENST00000261205.4	+	9	1507	c.850G>A	c.(850-852)Gta>Ata	p.V284I	SYT1_ENST00000393240.3_Missense_Mutation_p.V284I|SYT1_ENST00000552744.1_Missense_Mutation_p.V284I|SYT1_ENST00000457153.2_Missense_Mutation_p.V281I	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	284	Phospholipid binding. {ECO:0000305}.				calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|detection of calcium ion (GO:0005513)|glutamate secretion (GO:0014047)|neurotransmitter secretion (GO:0007269)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of synaptic transmission (GO:0050806)|positive regulation of vesicle fusion (GO:0031340)|protein homooligomerization (GO:0051260)|regulation of exocytosis (GO:0017157)|regulation of regulated secretory pathway (GO:1903305)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|vesicle docking (GO:0048278)	cell junction (GO:0030054)|clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|endocytic vesicle membrane (GO:0030666)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	1-phosphatidylinositol binding (GO:0005545)|calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|transporter activity (GO:0005215)	p.V284I(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						CCTTCGCTACGTACCTACTGC	0.398																																																	1	Substitution - Missense(1)	kidney(1)											241.0	222.0	229.0					12																	79747321		2203	4300	6503	SO:0001583	missense	6857				CCDS9017.1	12q21.2	2013-09-20			ENSG00000067715	ENSG00000067715		"""Synaptotagmins"""	11509	protein-coding gene	gene with protein product		185605		SYT, SVP65		1840599	Standard	NM_001135805		Approved	P65	uc001syv.3	P21579	OTTHUMG00000134326	ENST00000261205.4:c.850G>A	12.37:g.79747321G>A	ENSP00000261205:p.Val284Ile	Somatic		WXS	Illumina HiSeq	Phase_I	Q6AI31	Missense_Mutation	SNP	ENST00000261205.4	37	CCDS9017.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.896505	0.91962	.	.	ENSG00000067715	ENST00000393240;ENST00000261205;ENST00000457153;ENST00000552744	T;T;T;T	0.71934	-0.61;-0.61;-0.61;-0.61	6.06	6.06	0.98353	C2 calcium/lipid-binding domain, CaLB (1);Synaptotagmin (1);	0.000000	0.85682	D	0.000000	T	0.74374	0.3708	M	0.90309	3.105	0.80722	D	1	P;P	0.45474	0.859;0.859	B;B	0.29353	0.101;0.101	T	0.81680	-0.0823	10	0.62326	D	0.03	.	20.6397	0.99537	0.0:0.0:1.0:0.0	.	284;284	Q6AI31;P21579	.;SYT1_HUMAN	I	284;284;281;284	ENSP00000376932:V284I;ENSP00000261205:V284I;ENSP00000391056:V281I;ENSP00000447575:V284I	ENSP00000261205:V284I	V	+	1	0	SYT1	78271452	1.000000	0.71417	0.293000	0.24932	0.986000	0.74619	9.869000	0.99810	2.880000	0.98712	0.650000	0.86243	GTA		0.398	SYT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259415.1		NM_005639	
UGT2B11	10720	broad.mit.edu;hgsc.bcm.edu	37	4	70078407	70078407	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5699-01A-11D-1534-10	TCGA-B0-5699-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f114d9c-6672-4440-be2d-b0370a9e35f2	36406ad1-96ad-420f-8b28-5142618e35f6	g.chr4:70078407T>C	ENST00000446444.1	-	2	762	c.754A>G	c.(754-756)Aaa>Gaa	p.K252E	RP11-704M14.1_ENST00000505646.1_RNA|RP11-704M14.1_ENST00000504301.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	252					estrogen metabolic process (GO:0008210)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.K252E(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						ATGTCAGCTTTTCCCATTGTC	0.373																																																	1	Substitution - Missense(1)	kidney(1)											136.0	139.0	138.0					4																	70078407		2203	4299	6502	SO:0001583	missense	10720			AF016492	CCDS3527.1	4q13.3	2008-02-05	2005-07-20		ENSG00000213759	ENSG00000213759		"""UDP glucuronosyltransferases"""	12545	protein-coding gene	gene with protein product		603064	"""UDP glycosyltransferase 2 family, polypeptide B11"""			9675083	Standard	NM_001073		Approved		uc003heh.3	O75310	OTTHUMG00000129395	ENST00000446444.1:c.754A>G	4.37:g.70078407T>C	ENSP00000387683:p.Lys252Glu	Somatic		WXS	Illumina HiSeq	Phase_I	Q3KNV9	Missense_Mutation	SNP	ENST00000446444.1	37	CCDS3527.1	.	.	.	.	.	.	.	.	.	.	-	8.884	0.952408	0.18431	.	.	ENSG00000213759	ENST00000446444	T	0.61510	0.1	1.96	1.96	0.26148	.	0.151184	0.41938	U	0.000792	T	0.70552	0.3237	M	0.90650	3.135	0.19945	N	0.999944	P	0.41710	0.76	P	0.51974	0.686	T	0.63019	-0.6730	10	0.66056	D	0.02	.	7.5503	0.27793	0.0:0.0:0.0:1.0	.	252	O75310	UDB11_HUMAN	E	252	ENSP00000387683:K252E	ENSP00000387683:K252E	K	-	1	0	UGT2B11	70112996	0.994000	0.37717	0.356000	0.25785	0.035000	0.12851	2.439000	0.44846	0.898000	0.36418	0.155000	0.16302	AAA		0.373	UGT2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251551.2		NM_001073	
UGT2B4	7363	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	70346629	70346629	+	Splice_Site	SNP	C	C	G	rs71599906	byFrequency	TCGA-B0-5699-01A-11D-1534-10	TCGA-B0-5699-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f114d9c-6672-4440-be2d-b0370a9e35f2	36406ad1-96ad-420f-8b28-5142618e35f6	g.chr4:70346629C>G	ENST00000305107.6	-	6	1357		c.e6-1		UGT2B4_ENST00000512583.1_Splice_Site|AC108078.1_ENST00000583573.1_RNA|UGT2B4_ENST00000381096.3_Splice_Site|UGT2B4_ENST00000506580.1_Splice_Site	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4						cellular glucuronidation (GO:0052695)|estrogen catabolic process (GO:0006711)|metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.?(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47					Canagliflozin(DB08907)|Codeine(DB00318)|Dapagliflozin(DB06292)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Morphine(DB00295)	CTCTTTATATCTAAACGATAA	0.433																																																	1	Unknown(1)	kidney(1)											57.0	59.0	58.0					4																	70346629		2203	4300	6503	SO:0001630	splice_region_variant	7363			BC026264	CCDS43234.1, CCDS75137.1	4q13	2008-02-05	2005-07-20			ENSG00000156096		"""UDP glucuronosyltransferases"""	12553	protein-coding gene	gene with protein product		600067	"""UDP glycosyltransferase 2 family, polypeptide B4"""			3109396, 7835904	Standard	NM_021139		Approved	UGT2B11	uc003hek.4	P06133		ENST00000305107.6:c.1311-1G>C	4.37:g.70346629C>G		Somatic		WXS	Illumina HiSeq	Phase_I	A6NCP7|B4DT75|G5E9X8|O60731|O60867|O75614|P36538|Q1HBF9|Q6QQX7	Splice_Site	SNP	ENST00000305107.6	37	CCDS43234.1	.	.	.	.	.	.	.	.	.	.	C	11.45	1.643529	0.29246	.	.	ENSG00000156096	ENST00000512583;ENST00000305107;ENST00000381096	.	.	.	2.11	2.11	0.27256	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.2729	0.43493	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	UGT2B4	70381218	1.000000	0.71417	0.030000	0.17652	0.110000	0.19582	6.666000	0.74446	1.508000	0.48769	0.305000	0.20034	.		0.433	UGT2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365526.1		NM_021139	Intron
VAV1	7409	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	6828475	6828475	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5699-01A-11D-1534-10	TCGA-B0-5699-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f114d9c-6672-4440-be2d-b0370a9e35f2	36406ad1-96ad-420f-8b28-5142618e35f6	g.chr19:6828475C>T	ENST00000602142.1	+	11	1151	c.1069C>T	c.(1069-1071)Cgg>Tgg	p.R357W	VAV1_ENST00000539284.1_Missense_Mutation_p.R260W|VAV1_ENST00000304076.2_Missense_Mutation_p.R357W|VAV1_ENST00000596764.1_Missense_Mutation_p.R325W|VAV1_ENST00000599806.1_Missense_Mutation_p.R302W	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	357	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R357W(1)		biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						GGAGAACCTGCGGCTGGCCCT	0.627																																																	1	Substitution - Missense(1)	kidney(1)											60.0	63.0	62.0					19																	6828475		2203	4300	6503	SO:0001583	missense	7409				CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12657	protein-coding gene	gene with protein product		164875	"""vav 1 oncogene"""	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.1069C>T	19.37:g.6828475C>T	ENSP00000472929:p.Arg357Trp	Somatic		WXS	Illumina HiSeq	Phase_I	B4DVK9|M0QXX6|Q15860	Missense_Mutation	SNP	ENST00000602142.1	37	CCDS12174.1	.	.	.	.	.	.	.	.	.	.	C	16.52	3.144975	0.57044	.	.	ENSG00000141968	ENST00000304076;ENST00000539284	T;T	0.63913	-0.07;-0.07	5.0	2.81	0.32909	Dbl homology (DH) domain (5);	0.071358	0.53938	D	0.000043	T	0.78259	0.4255	M	0.83953	2.67	0.50171	D	0.999854	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.981;0.992;0.993;0.998	T	0.79274	-0.1871	10	0.87932	D	0	.	11.1257	0.48317	0.4865:0.5135:0.0:0.0	.	260;357;302;357	F5H5P4;B2R8B5;Q96D37;P15498	.;.;.;VAV_HUMAN	W	357;260	ENSP00000302269:R357W;ENSP00000443242:R260W	ENSP00000302269:R357W	R	+	1	2	VAV1	6779475	0.873000	0.30073	0.995000	0.50966	0.398000	0.30690	0.216000	0.17585	0.499000	0.27970	-0.518000	0.04402	CGG		0.627	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1			
VHL	7428	hgsc.bcm.edu	37	3	10183768	10183769	+	Frame_Shift_Ins	INS	-	-	T			TCGA-B0-5699-01A-11W-1584-10	TCGA-B0-5699-11A-01W-1584-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	97ea3c2a-a6b9-4d97-bc69-a6e11f187783	b795c8fc-7d51-494c-87c6-a891ad423312	g.chr3:10183768_10183769insT	ENST00000256474.2	+	1	1077_1078	c.237_238insT	c.(238-240)agtfs	p.S80fs	snoU13_ENST00000458986.1_RNA|VHL_ENST00000345392.2_Frame_Shift_Ins_p.S80fs	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	80			S -> I (in VHLD; type I). {ECO:0000269|PubMed:8956040}.|S -> N (in pheochromocytoma and VHLD; type I; dbSNP:rs5030805). {ECO:0000269|PubMed:12000816, ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829912}.|S -> R (in VHLD; type I). {ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829912}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.S72_V87>L(1)|p.S80fs*73(1)|p.R79R(1)|p.R60fs*35(1)|p.R79P(1)|p.S80R(1)|p.C77_R79del(1)|p.N78fs*80(1)|p.V74fs*77(1)|p.R79_P81>P(1)|p.R79fs*88(1)|p.R79fs*52(1)|p.N78fs*50(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		TCTGCAATCGCAGTCCGCGCGT	0.713		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													.	yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"""E, M, O"""	13	Deletion - Frameshift(6)|Complex - deletion inframe(2)|Substitution - Missense(2)|Deletion - In frame(1)|Insertion - Frameshift(1)|Substitution - coding silent(1)	kidney(13)	GRCh37	CM023993|CM971567	VHL	M																																				SO:0001589	frameshift_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	Exception_encountered	3.37:g.10183768_10183769insT	ENSP00000256474:p.Ser80fs	Somatic		WXS	Illumina MiSeq	Phase_I	B2RE45|Q13599|Q6PDA9	Frame_Shift_Ins	INS	ENST00000256474.2	37	CCDS2597.1																																																																																				0.713	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1		NM_000551	
VHL	7428	hgsc.bcm.edu	37	3	10183770	10183773	+	Frame_Shift_Del	DEL	GTCC	GTCC	-	rs193922608|rs104893829|rs5030805		TCGA-B0-5699-01A-11W-1584-10	TCGA-B0-5699-11A-01W-1584-10	GTCC	GTCC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	97ea3c2a-a6b9-4d97-bc69-a6e11f187783	b795c8fc-7d51-494c-87c6-a891ad423312	g.chr3:10183770_10183773delGTCC	ENST00000256474.2	+	1	1079_1082	c.239_242delGTCC	c.(238-243)agtccgfs	p.SP80fs	snoU13_ENST00000458986.1_RNA|VHL_ENST00000345392.2_Frame_Shift_Del_p.SP80fs	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	80			S -> I (in VHLD; type I). {ECO:0000269|PubMed:8956040}.|S -> N (in pheochromocytoma and VHLD; type I; dbSNP:rs5030805). {ECO:0000269|PubMed:12000816, ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829912}.|S -> R (in VHLD; type I). {ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829912}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.P81S(14)|p.S80R(13)|p.S80N(4)|p.P81fs*78(2)|p.S72_V87>L(1)|p.P81fs*49(1)|p.P81T(1)|p.S80fs*73(1)|p.R60fs*35(1)|p.S80_P81>T(1)|p.R82fs*75(1)|p.V74fs*77(1)|p.R79_P81>P(1)|p.N78fs*50(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		TGCAATCGCAGTCCGCGCGTCGTG	0.711		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													.	yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"""E, M, O"""	43	Substitution - Missense(32)|Deletion - Frameshift(8)|Complex - deletion inframe(3)	kidney(40)|pancreas(3)	GRCh37	CD951872|CM941367|CM951273|CM951274|CM961418	VHL	D|M	rs104893829|rs5030805																																			SO:0001589	frameshift_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.239_242delGTCC	3.37:g.10183770_10183773delGTCC	ENSP00000256474:p.Ser80fs	Somatic		WXS	Illumina MiSeq	Phase_I	B2RE45|Q13599|Q6PDA9	Frame_Shift_Del	DEL	ENST00000256474.2	37	CCDS2597.1																																																																																				0.711	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1		NM_000551	
ZNF740	283337	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	53579788	53579788	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5699-01A-11D-1534-10	TCGA-B0-5699-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f114d9c-6672-4440-be2d-b0370a9e35f2	36406ad1-96ad-420f-8b28-5142618e35f6	g.chr12:53579788T>A	ENST00000416904.3	+	5	745	c.300T>A	c.(298-300)aaT>aaA	p.N100K		NM_001004304.3	NP_001004304.1	Q8NDX6	ZN740_HUMAN	zinc finger protein 740	100					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.N100K(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)	3						TTCCCAAAAATTTTGTTTGTG	0.438																																																	1	Substitution - Missense(1)	kidney(1)											76.0	71.0	73.0					12																	53579788		1851	4094	5945	SO:0001583	missense	283337			BC053557	CCDS44896.1	12q13.13	2013-01-08				ENSG00000139651		"""Zinc fingers, C2H2-type"""	27465	protein-coding gene	gene with protein product							Standard	NM_001004304		Approved	Zfp740	uc001scb.4	Q8NDX6		ENST00000416904.3:c.300T>A	12.37:g.53579788T>A	ENSP00000409463:p.Asn100Lys	Somatic		WXS	Illumina HiSeq	Phase_I	A8K9M9	Missense_Mutation	SNP	ENST00000416904.3	37	CCDS44896.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.017542	0.75161	.	.	ENSG00000139651	ENST00000416904	T	0.75938	-0.98	5.08	2.78	0.32641	Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.076011	0.53938	D	0.000059	T	0.58424	0.2121	N	0.24115	0.695	0.45995	D	0.998808	B	0.24576	0.106	B	0.23018	0.043	T	0.58685	-0.7593	10	0.72032	D	0.01	-21.3462	9.1442	0.36921	0.0:0.1605:0.0:0.8395	.	100	Q8NDX6	ZN740_HUMAN	K	100	ENSP00000409463:N100K	ENSP00000409463:N100K	N	+	3	2	ZNF740	51866055	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	0.425000	0.21346	1.069000	0.40788	0.460000	0.39030	AAT		0.438	ZNF740-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406890.2		NM_001004304	
ZNFX1	57169	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	47887950	47887950	+	Silent	SNP	C	C	T			TCGA-B0-5699-01A-11D-1534-10	TCGA-B0-5699-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f114d9c-6672-4440-be2d-b0370a9e35f2	36406ad1-96ad-420f-8b28-5142618e35f6	g.chr20:47887950C>T	ENST00000396105.1	-	3	645	c.399G>A	c.(397-399)aaG>aaA	p.K133K	ZNFX1_ENST00000371752.1_Silent_p.K133K|ZNFX1_ENST00000371754.4_Silent_p.K133K	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	133							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.K133K(2)		cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GTTCTGTAGGCTTCTGGTGGG	0.522																																																	2	Substitution - coding silent(2)	kidney(2)											134.0	132.0	132.0					20																	47887950		2203	4300	6503	SO:0001819	synonymous_variant	57169			AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.399G>A	20.37:g.47887950C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Silent	SNP	ENST00000396105.1	37	CCDS13417.1																																																																																				0.522	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2		NM_021035	
BAP1	8314	ucsc.edu	37	3	52436362	52436362	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-5699-01A-11D-1534-10	TCGA-B0-5699-11A-01D-1534-10	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_I	WXS	PGM	.		Illumina GAIIx	2f114d9c-6672-4440-be2d-b0370a9e35f2	36406ad1-96ad-420f-8b28-5142618e35f6	g.chr3:52436362delT	ENST00000460680.1	-	17	2603	c.2132delA	c.(2131-2133)aagfs	p.K711fs	BAP1_ENST00000296288.5_Frame_Shift_Del_p.K693fs	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		CTTCCGCTGCTTGTGGAGCCG	0.652			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""																															GBM(101;493 1458 7992 21037 25532)	.		Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	0													20.0	23.0	22.0					3																	52436362		2200	4296	6496	SO:0001589	frameshift_variant	8314			AF045581	CCDS2853.1	3p21.31-p21.2	2014-09-17			ENSG00000163930	ENSG00000163930			950	protein-coding gene	gene with protein product		603089				9528852	Standard	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	Q92560	OTTHUMG00000158392	ENST00000460680.1:c.2132delA	3.37:g.52436362delT	ENSP00000417132:p.Lys711fs	Somatic		WXS	Illumina HiSeq	.	B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Frame_Shift_Del	DEL	ENST00000460680.1	37	CCDS2853.1																																																																																				0.652	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1			
ALKBH4	54784	broad.mit.edu	37	7	102098340	102098340	+	Missense_Mutation	SNP	C	C	T	rs145100726	byFrequency	TCGA-B0-5699-01A-11D-1534-10	TCGA-B0-5699-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f114d9c-6672-4440-be2d-b0370a9e35f2	36406ad1-96ad-420f-8b28-5142618e35f6	g.chr7:102098340C>T	ENST00000292566.3	-	3	449	c.410G>A	c.(409-411)cGg>cAg	p.R137Q		NM_017621.3	NP_060091.1	Q9NXW9	ALKB4_HUMAN	alkB, alkylation repair homolog 4 (E. coli)	137					actomyosin structure organization (GO:0031032)|cleavage furrow ingression (GO:0036090)|protein demethylation (GO:0006482)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	contractile ring (GO:0070938)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)	actin binding (GO:0003779)|demethylase activity (GO:0032451)|metal ion binding (GO:0046872)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)	p.R137Q(1)		kidney(1)|lung(5)|skin(2)	8						GCCCATCCTCCGCACCACCTC	0.637																																																	1	Substitution - Missense(1)	kidney(1)						C	GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	31.0	33.0	32.0		410	2.7	0.5	7	dbSNP_134	32	6,8594	5.0+/-18.6	0,6,4294	yes	missense	ALKBH4	NM_017621.3	43	0,8,6495	TT,TC,CC		0.0698,0.0454,0.0615	benign	137/303	102098340	8,12998	2203	4300	6503	SO:0001583	missense	54784			BC017096	CCDS5723.1	7q22.1	2006-02-09			ENSG00000160993	ENSG00000160993		"""Alkylation repair homologs"""	21900	protein-coding gene	gene with protein product		613302					Standard	NM_017621		Approved	FLJ20013	uc003uzl.3	Q9NXW9	OTTHUMG00000157720	ENST00000292566.3:c.410G>A	7.37:g.102098340C>T	ENSP00000292566:p.Arg137Gln	Somatic		WXS	Illumina GAIIx	Phase_I	Q53H92|Q9H6A4	Missense_Mutation	SNP	ENST00000292566.3	37	CCDS5723.1	.	.	.	.	.	.	.	.	.	.	C	8.654	0.898875	0.17686	4.54E-4	6.98E-4	ENSG00000160993	ENST00000292566	T	0.13657	2.57	4.67	2.67	0.31697	.	1.080180	0.07107	N	0.841490	T	0.07458	0.0188	N	0.16790	0.44	0.09310	N	1	B	0.16802	0.019	B	0.06405	0.002	T	0.41016	-0.9532	10	0.15952	T	0.53	-7.122	3.421	0.07393	0.0:0.4449:0.2285:0.3265	.	137	Q9NXW9	ALKB4_HUMAN	Q	137	ENSP00000292566:R137Q	ENSP00000292566:R137Q	R	-	2	0	ALKBH4	101885345	0.001000	0.12720	0.453000	0.27007	0.813000	0.45954	0.343000	0.19944	1.161000	0.42604	0.561000	0.74099	CGG		0.637	ALKBH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349503.1		NM_017621	
SPECC1	92521	broad.mit.edu	37	17	20224931	20224931	+	IGR	SNP	T	T	C			TCGA-B0-5699-01A-11D-1534-10	TCGA-B0-5699-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f114d9c-6672-4440-be2d-b0370a9e35f2	36406ad1-96ad-420f-8b28-5142618e35f6	g.chr17:20224931T>C	ENST00000395530.2	+	0	8133				AC004702.2_ENST00000580225.1_lincRNA|U6_ENST00000517027.1_RNA|CCDC144CP_ENST00000340196.4_RNA	NM_001033555.2	NP_001028727.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1						cell adhesion (GO:0007155)	nucleus (GO:0005634)		p.V101A(1)		breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		CACGTCTTGGTTCCTGGAGAC	0.642																																																	1	Substitution - Missense(1)	kidney(1)																																								SO:0001628	intergenic_variant	348254			AY816329, AB041533	CCDS32590.1, CCDS42280.1, CCDS42281.1, CCDS45628.1, CCDS58531.1	17p11.2	2012-11-19	2010-09-17	2010-09-17	ENSG00000128487	ENSG00000128487			30615	protein-coding gene	gene with protein product	"""sperm antigen HCMOGT 1"", ""cytokinesis and spindle organization B"", ""cytospin B"""	608793				15602574, 18763323, 15087372	Standard	NM_001033553		Approved	HCMOGT-1, FLJ36955, NSP, CYTSB	uc002gwq.3	Q5M775	OTTHUMG00000179808		17.37:g.20224931T>C		Somatic		WXS	Illumina GAIIx	Phase_I	B4DHH0|B7WNS8|Q5IBP1|Q5IBP2|Q5IBP3|Q5IBP4|Q5M772|Q5M773|Q5M774|Q86XT8|Q8N4U4|Q8WU84|Q9HCQ3	RNA	SNP	ENST00000395530.2	37	CCDS42281.1	.	.	.	.	.	.	.	.	.	.	.	0.797	-0.756728	0.03019	.	.	ENSG00000154898	ENST00000340196;ENST00000425519	.	.	.	0.43	-0.86	0.10680	.	.	.	.	.	T	0.12689	0.0308	.	.	.	0.22541	N	0.99901	.	.	.	.	.	.	T	0.26710	-1.0095	3	0.09590	T	0.72	.	.	.	.	.	.	.	.	A	101	.	ENSP00000343605:V101A	V	+	2	0	CCDC144C	20165523	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.144000	0.01296	-1.855000	0.01162	-1.875000	0.00549	GTT		0.642	SPECC1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132368.3		NM_152904	
GATA5	140628	broad.mit.edu	37	20	61041502	61041502	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5699-01A-11D-1534-10	TCGA-B0-5699-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f114d9c-6672-4440-be2d-b0370a9e35f2	36406ad1-96ad-420f-8b28-5142618e35f6	g.chr20:61041502G>A	ENST00000252997.2	-	4	866	c.805C>T	c.(805-807)Ctc>Ttc	p.L269F		NM_080473.4	NP_536721.1	Q9BWX5	GATA5_HUMAN	GATA binding protein 5	269					blood coagulation (GO:0007596)|cellular response to BMP stimulus (GO:0071773)|intestinal epithelial cell differentiation (GO:0060575)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.L269F(1)		kidney(1)|lung(3)|ovary(1)|stomach(1)	6	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;3.08e-06)			TTCATGTAGAGGCCGCAGGCA	0.697																																																	1	Substitution - Missense(1)	kidney(1)											28.0	28.0	28.0					20																	61041502		2192	4295	6487	SO:0001583	missense	140628			BC047790, BC117356	CCDS13499.1	20q13.33	2013-07-17	2001-11-28		ENSG00000130700	ENSG00000130700		"""GATA zinc finger domain containing"""	15802	protein-coding gene	gene with protein product		611496	"""GATA-binding protein 5"""			9566909	Standard	NM_080473		Approved	bB379O24.1, GATAS	uc002ycx.1	Q9BWX5	OTTHUMG00000032919	ENST00000252997.2:c.805C>T	20.37:g.61041502G>A	ENSP00000252997:p.Leu269Phe	Somatic		WXS	Illumina GAIIx	Phase_I	D9ZGF7|Q17RE2|Q86VU4	Missense_Mutation	SNP	ENST00000252997.2	37	CCDS13499.1	.	.	.	.	.	.	.	.	.	.	G	18.49	3.635183	0.67130	.	.	ENSG00000130700	ENST00000370545;ENST00000540404;ENST00000252997	D	0.99751	-6.63	4.7	3.74	0.42951	Zinc finger, NHR/GATA-type (1);Zinc finger, GATA-type (3);	0.000000	0.85682	D	0.000000	D	0.99866	0.9937	H	0.99609	4.655	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.97262	0.9905	10	0.87932	D	0	-3.5305	7.2944	0.26385	0.2135:0.0:0.7865:0.0	.	269	Q9BWX5	GATA5_HUMAN	F	269;289;269	ENSP00000252997:L269F	ENSP00000252997:L269F	L	-	1	0	GATA5	60474897	1.000000	0.71417	0.955000	0.39395	0.591000	0.36615	4.518000	0.60510	2.151000	0.67156	0.313000	0.20887	CTC		0.697	GATA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080038.2		NM_080473	
LRIT2	340745	broad.mit.edu	37	10	85982281	85982281	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5699-01A-11D-1534-10	TCGA-B0-5699-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f114d9c-6672-4440-be2d-b0370a9e35f2	36406ad1-96ad-420f-8b28-5142618e35f6	g.chr10:85982281G>T	ENST00000372113.4	-	3	1053	c.1048C>A	c.(1048-1050)Cta>Ata	p.L350I	LRIT2_ENST00000538192.1_Missense_Mutation_p.L360I	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	350						integral component of membrane (GO:0016021)		p.L350I(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						GGTGCATGTAGGGCCTGGGCA	0.542																																																	1	Substitution - Missense(1)	kidney(1)											93.0	79.0	84.0					10																	85982281		2203	4300	6503	SO:0001583	missense	340745				CCDS31234.1, CCDS60581.1	10q23.2	2013-01-11	2007-06-19	2007-06-19	ENSG00000204033	ENSG00000204033		"""Immunoglobulin superfamily / I-set domain containing"""	23443	protein-coding gene	gene with protein product			"""leucine rich repeat containing 22"""	LRRC22			Standard	NM_001017924		Approved	AC022389.4	uc001kcy.3	A6NDA9	OTTHUMG00000018633	ENST00000372113.4:c.1048C>A	10.37:g.85982281G>T	ENSP00000361185:p.Leu350Ile	Somatic		WXS	Illumina GAIIx	Phase_I	B7ZME6	Missense_Mutation	SNP	ENST00000372113.4	37	CCDS31234.1	.	.	.	.	.	.	.	.	.	.	G	1.546	-0.540422	0.04053	.	.	ENSG00000204033	ENST00000372113;ENST00000538192	T;T	0.61859	0.55;0.07	4.96	-2.73	0.05950	.	1.055670	0.07318	N	0.877159	T	0.29423	0.0733	N	0.08118	0	0.09310	N	1	B;B	0.23806	0.091;0.091	B;B	0.19148	0.024;0.024	T	0.12528	-1.0544	10	0.27785	T	0.31	.	3.4832	0.07610	0.1543:0.3405:0.3832:0.1219	.	360;350	B7ZME6;A6NDA9	.;LRIT2_HUMAN	I	350;360	ENSP00000361185:L350I;ENSP00000438264:L360I	ENSP00000361185:L350I	L	-	1	2	LRIT2	85972261	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.047000	0.14056	-0.320000	0.08640	0.557000	0.71058	CTA		0.542	LRIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049110.4		XM_291697	
PRDM9	56979	broad.mit.edu	37	5	23522473	23522473	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5699-01A-11D-1534-10	TCGA-B0-5699-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f114d9c-6672-4440-be2d-b0370a9e35f2	36406ad1-96ad-420f-8b28-5142618e35f6	g.chr5:23522473C>A	ENST00000296682.3	+	7	751	c.569C>A	c.(568-570)gCa>gAa	p.A190E		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	190					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)	p.A190E(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AAGGGTCATGCATACAAAGAG	0.453										HNSCC(3;0.000094)																																							1	Substitution - Missense(1)	kidney(1)											154.0	163.0	160.0					5																	23522473		1974	4171	6145	SO:0001583	missense	56979			AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.569C>A	5.37:g.23522473C>A	ENSP00000296682:p.Ala190Glu	Somatic		WXS	Illumina GAIIx	Phase_I	B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	C	11.45	1.641989	0.29157	.	.	ENSG00000164256	ENST00000296682	T	0.08102	3.13	3.63	-0.426	0.12314	SSXRD motif (1);	.	.	.	.	T	0.05547	0.0146	N	0.24115	0.695	0.09310	N	1	B	0.21520	0.057	B	0.18561	0.022	T	0.37526	-0.9702	9	0.66056	D	0.02	-0.8379	6.0841	0.19958	0.0:0.4834:0.0:0.5166	.	190	Q9NQV7	PRDM9_HUMAN	E	190	ENSP00000296682:A190E	ENSP00000296682:A190E	A	+	2	0	PRDM9	23558230	0.001000	0.12720	0.000000	0.03702	0.171000	0.22731	0.201000	0.17276	-0.001000	0.14495	0.531000	0.56144	GCA		0.453	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1		NM_020227	
UBE2MP1	606551	broad.mit.edu	37	16	34404516	34404516	+	IGR	SNP	C	C	T			TCGA-B0-5699-01A-11D-1534-10	TCGA-B0-5699-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f114d9c-6672-4440-be2d-b0370a9e35f2	36406ad1-96ad-420f-8b28-5142618e35f6	g.chr16:34404516C>T								RP11-244B22.11 (25264 upstream) : RP11-488I20.9 (22544 downstream)																							CTTCTGGATCCGCAGCTGCGC	0.557																																																	0																																										SO:0001628	intergenic_variant	606551																															16.37:g.34404516C>T		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP		37																																																																																				0	0.557									
ZNF788	388507	broad.mit.edu	37	19	12223137	12223137	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-5699-01A-11D-1534-10	TCGA-B0-5699-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f114d9c-6672-4440-be2d-b0370a9e35f2	36406ad1-96ad-420f-8b28-5142618e35f6	g.chr19:12223137delA	ENST00000339302.4	+	3	1412	c.775delA	c.(775-777)aaafs	p.K259fs	ZNF788_ENST00000397759.3_5'Flank|ZNF788_ENST00000430298.2_3'UTR|ZNF20_ENST00000600335.1_Intron			Q6ZQV5	ZN788_HUMAN	zinc finger family member 788	259					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	2						GGAATGTGGGAAATCATACTA	0.383																																					Melanoma(116;440 1644 18510 25456 49479)												0																																										SO:0001589	frameshift_variant	388507			AI566055		19p13.2	2013-01-08	2006-08-16		ENSG00000214189	ENSG00000214189		"""Zinc fingers, C2H2-type"""	33112	protein-coding gene	gene with protein product							Standard	NR_027049		Approved	FLJ46419	uc002mtd.3	Q6ZQV5	OTTHUMG00000156416	ENST00000339302.4:c.775delA	19.37:g.12223137delA	ENSP00000342021:p.Lys259fs	Somatic		WXS	Illumina GAIIx	Phase_I	Q6ZRE4	Frame_Shift_Del	DEL	ENST00000339302.4	37																																																																																					0.383	ZNF788-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			XM_930581	
