#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_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	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_default_gene_name	i_deletion_substructures	i_domain	i_ensembl_gene_id	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_name	i_gene_name_source	i_gene_type	i_havana_transcript	i_header	i_normal_VAF	i_normal_ref_reads	i_normal_var_reads	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_tier	i_title	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_tumor_VAF	i_tumor_ref_reads	i_tumor_var_reads	i_type	i_ucsc_cons	i_variant
ABCB1	5243	genome.wustl.edu	37	7	87178743	87178743	+	Missense_Mutation	SNP	G	G	T			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr7:87178743G>T	ENST00000265724.3	-	15	2063	c.1646C>A	c.(1645-1647)cCc>cAc	p.P549H	ABCB1_ENST00000543898.1_Missense_Mutation_p.P485H	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	549	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				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.P549H(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)	GAGGATCTTGGGGTTGCGAAC	0.557																																																	1	Substitution - Missense(1)	lung(1)											129.0	107.0	115.0					7																	87178743		2203	4300	6503	SO:0001583	missense	0			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.1646C>A	7.37:g.87178743G>T	ENSP00000265724:p.Pro549His		A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.P549H	ENST00000265724.3	37	c.1646	CCDS5608.1	7	.	.	.	.	.	.	.	.	.	.	G	28.5	4.922397	0.92319	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.85171	-1.95;-1.95	5.8	5.8	0.92144	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.94437	0.8210	M	0.91561	3.22	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94897	0.8053	10	0.87932	D	0	-15.5605	20.051	0.97627	0.0:0.0:1.0:0.0	.	485;549	B5AK60;P08183	.;MDR1_HUMAN	H	330;549;485	ENSP00000265724:P549H;ENSP00000444095:P485H	ENSP00000265724:P549H	P	-	2	0	ABCB1	87016679	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.842000	0.99487	2.740000	0.93945	0.650000	0.86243	CCC	ABCB1	-	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000085563		0.557	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB1	HGNC	protein_coding	OTTHUMT00000335444.2		0.00	78	0	G	NM_000927		87178743	-1			no_errors	ENST00000265724	ensembl	human	known	74_37	missense	5.56	68	4	SNP	1.000	T
ABCC12	94160	genome.wustl.edu	37	16	48149422	48149422	+	Silent	SNP	C	C	T	rs150180336		TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr16:48149422C>T	ENST00000311303.3	-	13	2238	c.1893G>A	c.(1891-1893)tcG>tcA	p.S631S	ABCC12_ENST00000448542.1_Silent_p.S631S|ABCC12_ENST00000416054.1_Missense_Mutation_p.R607Q	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	631	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				CGTCCACGGCCGACAGGGGGT	0.632																																																	0								C		2,4400	4.2+/-10.8	0,2,2199	108.0	98.0	101.0		1893	-10.5	0.0	16	dbSNP_134	101	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ABCC12	NM_033226.2		0,3,6498	TT,TC,CC		0.0116,0.0454,0.0231		631/1360	48149422	3,12999	2201	4300	6501	SO:0001819	synonymous_variant	0			AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.1893G>A	16.37:g.48149422C>T			Q49AL2|Q8TAF0|Q8TEY2	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,pfscan_ABC1_TM_dom	p.R607Q	ENST00000311303.3	37	c.1820	CCDS10730.1	16	.	.	.	.	.	.	.	.	.	.	C	6.502	0.460824	0.12342	4.54E-4	1.16E-4	ENSG00000140798	ENST00000416054	D	0.93247	-3.19	5.24	-10.5	0.00291	.	.	.	.	.	D	0.88403	0.6427	.	.	.	0.20489	N	0.999899	.	.	.	.	.	.	T	0.78518	-0.2173	6	0.29301	T	0.29	.	11.6741	0.51419	0.1582:0.6728:0.0:0.169	.	.	.	.	Q	607	ENSP00000413046:R607Q	ENSP00000413046:R607Q	R	-	2	0	ABCC12	46706923	0.000000	0.05858	0.021000	0.16686	0.031000	0.12232	-1.952000	0.01528	-2.492000	0.00516	-1.547000	0.00903	CGG	ABCC12	-	NULL	ENSG00000140798		0.632	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC12	HGNC	protein_coding	OTTHUMT00000256837.1	-	0.00	45	0	C	NM_033226		48149422	-1	tier1	rs150180336	no_errors	ENST00000416054	ensembl	human	known	74_37	missense	36.71	50	29	SNP	0.518	T
ACOX1	51	genome.wustl.edu	37	17	73947651	73947651	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr17:73947651C>A	ENST00000301608.4	-	8	1012	c.952G>T	c.(952-954)Gaa>Taa	p.E318*	ACOX1_ENST00000293217.5_Nonsense_Mutation_p.E318*|ACOX1_ENST00000537812.1_Nonsense_Mutation_p.E280*	NM_007292.5	NP_009223.2	Q15067	ACOX1_HUMAN	acyl-CoA oxidase 1, palmitoyl	318					alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid oxidation (GO:0019395)|generation of precursor metabolites and energy (GO:0006091)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|peroxisome fission (GO:0016559)|positive regulation of cholesterol homeostasis (GO:2000189)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|FAD binding (GO:0071949)|fatty acid binding (GO:0005504)|flavin adenine dinucleotide binding (GO:0050660)|palmitoyl-CoA oxidase activity (GO:0016401)|PDZ domain binding (GO:0030165)|protein N-terminus binding (GO:0047485)|receptor binding (GO:0005102)			large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14					Flavin adenine dinucleotide(DB03147)	ATCTGTGGTTCTGGTTCACTA	0.388																																																	0													83.0	86.0	85.0					17																	73947651		2203	4300	6503	SO:0001587	stop_gained	0			U03254	CCDS11734.1, CCDS11735.1	17q25.1	2012-10-04	2010-04-30		ENSG00000161533	ENSG00000161533	1.3.3.6		119	protein-coding gene	gene with protein product		609751	"""acyl-Coenzyme A oxidase 1, palmitoyl"""			8159712	Standard	NM_007292		Approved	PALMCOX	uc002jqe.3	Q15067	OTTHUMG00000180027	ENST00000301608.4:c.952G>T	17.37:g.73947651C>A	ENSP00000301608:p.Glu318*		A8K6X8|A8KAA0|B4DK61|F5GYQ8|Q12863|Q15068|Q15101|Q16131|Q7Z3W5|Q9UD31	Nonsense_Mutation	SNP	pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase_NM_dom,pirsf_Acyl-CoA_oxidase	p.E318*	ENST00000301608.4	37	c.952	CCDS11735.1	17	.	.	.	.	.	.	.	.	.	.	C	42	9.778490	0.99261	.	.	ENSG00000161533	ENST00000301608;ENST00000293217;ENST00000537812;ENST00000539791;ENST00000538781	.	.	.	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-23.6621	19.5704	0.95409	0.0:1.0:0.0:0.0	.	.	.	.	X	318;318;280;318;250	.	ENSP00000293217:E318X	E	-	1	0	ACOX1	71459246	1.000000	0.71417	1.000000	0.80357	0.746000	0.42486	7.679000	0.84048	2.622000	0.88805	0.462000	0.41574	GAA	ACOX1	-	superfamily_AcylCo_DH/oxidase_C,pirsf_Acyl-CoA_oxidase	ENSG00000161533		0.388	ACOX1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACOX1	HGNC	protein_coding	OTTHUMT00000439503.1	-	0.00	18	0	C			73947651	-1	tier1	-	no_errors	ENST00000293217	ensembl	human	known	74_37	nonsense	27.50	29	11	SNP	1.000	A
ACTN2	88	genome.wustl.edu	37	1	236914952	236914952	+	Splice_Site	SNP	G	G	T			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr1:236914952G>T	ENST00000366578.4	+	15	2005	c.1839G>T	c.(1837-1839)aaG>aaT	p.K613N	ACTN2_ENST00000546208.1_Splice_Site_p.K107N|ACTN2_ENST00000542672.1_Splice_Site_p.K613N	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	613					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			AGTGGGACAAGGTGGGTGGCT	0.567																																																	0													83.0	75.0	78.0					1																	236914952		2203	4300	6503	SO:0001630	splice_region_variant	0			BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"""EF-hand domain containing"""	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.1839+1G>T	1.37:g.236914952G>T			B1ANE4|B2RCS5|Q86TF4|Q86TI8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.K613N	ENST00000366578.4	37	c.1839	CCDS1613.1	1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.356136	0.41700	.	.	ENSG00000077522	ENST00000542672;ENST00000366578;ENST00000546208;ENST00000545611	T;T;T	0.66995	-0.24;-0.24;-0.24	4.89	4.89	0.63831	.	0.214974	0.48286	D	0.000188	T	0.61837	0.2379	N	0.26130	0.795	0.58432	D	0.999999	P;B;P;P	0.46912	0.69;0.007;0.886;0.561	B;B;P;B	0.47075	0.434;0.01;0.536;0.218	T	0.61530	-0.7044	10	0.32370	T	0.25	.	18.0397	0.89315	0.0:0.0:1.0:0.0	.	398;613;383;613	B7Z4K1;B2RCS5;Q59FD9;P35609	.;.;.;ACTN2_HUMAN	N	613;613;107;382	ENSP00000443495:K613N;ENSP00000355537:K613N;ENSP00000438384:K107N	ENSP00000355537:K613N	K	+	3	2	ACTN2	234981575	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	4.764000	0.62264	2.265000	0.75225	0.563000	0.77884	AAG	ACTN2	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000077522		0.567	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACTN2	HGNC	protein_coding	OTTHUMT00000096628.1		0.00	55	0	G	NM_001103	Missense_Mutation	236914952	+1			no_errors	ENST00000366578	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	T
ADAMTS1	9510	genome.wustl.edu	37	21	28212008	28212008	+	Silent	SNP	C	C	T	rs371016638		TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr21:28212008C>T	ENST00000284984.3	-	7	2380	c.1926G>A	c.(1924-1926)gcG>gcA	p.A642A		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	642	Cys-rich.				heart trabecula formation (GO:0060347)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|negative regulation of cell proliferation (GO:0008285)|ovulation from ovarian follicle (GO:0001542)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		TCCATTCCACCGCAGGCCCAC	0.468																																																	0								C		0,4406		0,0,2203	103.0	103.0	103.0		1926	-10.7	0.0	21		103	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ADAMTS1	NM_006988.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		642/968	28212008	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AF060152	CCDS33524.1	21q21.3	2008-05-14	2005-08-19		ENSG00000154734	ENSG00000154734		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	217	protein-coding gene	gene with protein product		605174	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 1"""			10438512	Standard	NM_006988		Approved	C3-C5, METH1, KIAA1346	uc002ymf.3	Q9UHI8	OTTHUMG00000078688	ENST00000284984.3:c.1926G>A	21.37:g.28212008C>T			D3DSD5|Q9NSJ8|Q9P2K0|Q9UH83|Q9UP80	Silent	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS1,prints_Peptidase_M12B_ADAM-TS	p.A642	ENST00000284984.3	37	c.1926	CCDS33524.1	21																																																																																			ADAMTS1	-	NULL	ENSG00000154734		0.468	ADAMTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS1	HGNC	protein_coding	OTTHUMT00000171650.2	-	0.00	67	0	C			28212008	-1	tier1	-	no_errors	ENST00000284984	ensembl	human	known	74_37	silent	28.33	43	17	SNP	0.001	T
AFF2	2334	genome.wustl.edu	37	X	148039901	148039901	+	Missense_Mutation	SNP	A	A	C			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chrX:148039901A>C	ENST00000370460.2	+	12	3082	c.2603A>C	c.(2602-2604)aAg>aCg	p.K868T	AFF2_ENST00000370457.5_Missense_Mutation_p.K835T|AFF2_ENST00000342251.3_Missense_Mutation_p.K835T|AFF2_ENST00000286437.5_Missense_Mutation_p.K509T	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	868					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)	p.K868T(1)|p.K868M(1)		breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CCTGAGAAGAAGCAGCGCCTG	0.488																																																	2	Substitution - Missense(2)	large_intestine(2)											197.0	184.0	189.0					X																	148039901		2203	4300	6503	SO:0001583	missense	0			U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.2603A>C	X.37:g.148039901A>C	ENSP00000359489:p.Lys868Thr		A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	pfam_TF_AF4/FMR2	p.K868T	ENST00000370460.2	37	c.2603	CCDS14684.1	X	.	.	.	.	.	.	.	.	.	.	A	21.1	4.094352	0.76870	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37	5.81	5.81	0.92471	.	0.367614	0.27384	N	0.019617	T	0.79028	0.4377	M	0.78049	2.395	0.44227	D	0.997062	D;D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999;0.999	D;D;D;D;D;D	0.72982	0.979;0.964;0.964;0.964;0.964;0.979	T	0.78966	-0.1995	10	0.38643	T	0.18	.	8.8274	0.35063	0.9165:0.0:0.0835:0.0	.	509;833;835;829;858;868	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	T	868;835;835;509	ENSP00000359489:K868T;ENSP00000359486:K835T;ENSP00000345459:K835T;ENSP00000286437:K509T	ENSP00000286437:K509T	K	+	2	0	AFF2	147847601	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	5.299000	0.65716	1.949000	0.56562	0.486000	0.48141	AAG	AFF2	-	pfam_TF_AF4/FMR2	ENSG00000155966		0.488	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AFF2	HGNC	protein_coding	OTTHUMT00000058673.2	-	0.00	32	0	A	NM_002025		148039901	+1	tier1	-	no_errors	ENST00000370460	ensembl	human	known	74_37	missense	56.25	14	18	SNP	1.000	C
AGBL1	123624	genome.wustl.edu	37	15	87089267	87089267	+	Missense_Mutation	SNP	A	A	C			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr15:87089267A>C	ENST00000441037.2	+	19	2677	c.2582A>C	c.(2581-2583)aAg>aCg	p.K861T	AGBL1_ENST00000421325.2_Missense_Mutation_p.K861T|AGBL1_ENST00000389298.3_Missense_Mutation_p.K592T	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	861					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						TCCCAAAAGAAGAATGTGTTC	0.438																																																	0													116.0	108.0	111.0					15																	87089267		1925	4142	6067	SO:0001583	missense	0			AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 4"""	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.2582A>C	15.37:g.87089267A>C	ENSP00000413001:p.Lys861Thr		A1A4X5|A6NJH6|C9JHL5	Missense_Mutation	SNP	pfam_Peptidase_M14,superfamily_ARM-type_fold	p.K861T	ENST00000441037.2	37	c.2582	CCDS58398.1	15	.	.	.	.	.	.	.	.	.	.	A	19.72	3.879552	0.72294	.	.	ENSG00000166748	ENST00000441037;ENST00000421325;ENST00000389298	T;T	0.10099	2.91;2.91	5.53	4.41	0.53225	Peptidase M14, carboxypeptidase A (1);	1.052520	0.07812	U	0.958378	T	0.32041	0.0816	M	0.66506	2.035	0.34409	D	0.696204	D	0.63880	0.993	D	0.71414	0.973	T	0.05178	-1.0901	10	0.56958	D	0.05	-11.896	10.9616	0.47389	0.9272:0.0:0.0728:0.0	.	861	Q96MI9	CBPC4_HUMAN	T	896;861;592	ENSP00000397173:K861T;ENSP00000373949:K592T	ENSP00000373949:K592T	K	+	2	0	AGBL1	84890271	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.817000	0.75252	1.107000	0.41642	0.533000	0.62120	AAG	AGBL1	-	pfam_Peptidase_M14	ENSG00000166748		0.438	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	AGBL1	HGNC	protein_coding	OTTHUMT00000314929.5	-	0.00	75	0	A	NM_152336		87089267	+1	tier1	-	no_errors	ENST00000441037	ensembl	human	known	74_37	missense	8.46	119	11	SNP	1.000	C
AGPAT1	10554	genome.wustl.edu	37	6	32136858	32136858	+	3'UTR	SNP	C	C	T			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr6:32136858C>T	ENST00000395499.1	-	0	1626				PPT2-EGFL8_ENST00000422437.1_Intron|AGPAT1_ENST00000490711.1_5'UTR|AGPAT1_ENST00000395496.1_3'UTR|AGPAT1_ENST00000375107.3_3'UTR|AGPAT1_ENST00000375104.2_3'UTR|AGPAT1_ENST00000395497.1_3'UTR|AGPAT1_ENST00000336984.6_3'UTR			Q99943	PLCA_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 1						CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|positive regulation of cellular metabolic process (GO:0031325)|positive regulation of cytokine production (GO:0001819)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			central_nervous_system(1)|large_intestine(3)|lung(6)|ovary(2)	12						AGGCAAGAGTCCATGGATGGG	0.557																																																	0																																										SO:0001624	3_prime_UTR_variant	0			U56417	CCDS4744.1	6p21.3	2013-02-05	2013-02-05		ENSG00000204310	ENSG00000204310	2.3.1.51	"""1-acylglycerol-3-phosphate O-acyltransferases"""	324	protein-coding gene	gene with protein product	"""lysophosphatidic acid acyltransferase, alpha"""	603099	"""1-acylglycerol-3-phosphate O-acyltransferase 1 (lysophosphatidic acid acyltransferase, alpha)"""			9461603, 9291118	Standard	NM_032741		Approved	LPAAT-alpha	uc003oae.3	Q99943	OTTHUMG00000031210	ENST00000395499.1:c.*195G>A	6.37:g.32136858C>T			A2BFI5|Q5BL03	RNA	SNP	-	NULL	ENST00000395499.1	37	NULL	CCDS4744.1	6																																																																																			AGPAT1	-	-	ENSG00000204310		0.557	AGPAT1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	AGPAT1	HGNC	protein_coding	OTTHUMT00000268941.1	-	0.00	28	0	C	NM_006411		32136858	-1	tier1	-	no_errors	ENST00000490711	ensembl	human	known	74_37	rna	20.37	43	11	SNP	0.018	T
ANKRD2	26287	genome.wustl.edu	37	10	99337638	99337638	+	Missense_Mutation	SNP	G	G	A			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr10:99337638G>A	ENST00000307518.5	+	2	517	c.250G>A	c.(250-252)Gca>Aca	p.A84T	ANKRD2_ENST00000370655.1_Missense_Mutation_p.A57T|ANKRD2_ENST00000298808.5_Missense_Mutation_p.A84T|ANKRD2_ENST00000455090.1_Missense_Mutation_p.A57T			Q9GZV1	ANKR2_HUMAN	ankyrin repeat domain 2 (stretch responsive muscle)	84	May mediate interaction with PML, p53/TP53 and YBX1.				muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|skeletal muscle cell differentiation (GO:0035914)	cytosol (GO:0005829)|euchromatin (GO:0000791)|I band (GO:0031674)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	protein kinase B binding (GO:0043422)|structural constituent of muscle (GO:0008307)			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7		all_hematologic(284;1.95e-06)|Colorectal(252;0.0163)		Epithelial(162;1.18e-94)|all cancers(201;9.31e-86)|BRCA - Breast invasive adenocarcinoma(275;0.0233)|STAD - Stomach adenocarcinoma(243;0.181)|KIRC - Kidney renal clear cell carcinoma(50;0.206)|Kidney(138;0.241)		GGCTCAGAGTGCAGCCCTGCA	0.617																																																	0													56.0	44.0	48.0					10																	99337638		2196	4287	6483	SO:0001583	missense	0			AJ304805	CCDS7466.1, CCDS44468.1	10q23	2013-01-10			ENSG00000165887	ENSG00000165887		"""Ankyrin repeat domain containing"""	495	protein-coding gene	gene with protein product		610734				10873377, 15136035, 15677738	Standard	NM_001129981		Approved	ARPP	uc001knw.3	Q9GZV1	OTTHUMG00000018860	ENST00000307518.5:c.250G>A	10.37:g.99337638G>A	ENSP00000306163:p.Ala84Thr		Q3B778|Q5T456|Q70EZ9|Q8WUD7|Q96MG0|Q9NQC9	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.A84T	ENST00000307518.5	37	c.250	CCDS7466.1	10	.	.	.	.	.	.	.	.	.	.	G	8.834	0.940706	0.18281	.	.	ENSG00000165887	ENST00000307518;ENST00000298808;ENST00000370655;ENST00000455090	T;T;T;T	0.48522	1.03;0.82;0.98;0.81	4.65	2.76	0.32466	.	1.745460	0.03042	N	0.153491	T	0.29783	0.0744	N	0.08118	0	0.09310	N	1	B;B	0.14012	0.004;0.009	B;B	0.14023	0.001;0.01	T	0.21075	-1.0256	10	0.15952	T	0.53	-0.1502	8.7867	0.34825	0.1473:0.4966:0.3561:0.0	.	84;84	Q9GZV1-2;Q9GZV1	.;ANKR2_HUMAN	T	84;84;57;57	ENSP00000306163:A84T;ENSP00000298808:A84T;ENSP00000359689:A57T;ENSP00000403114:A57T	ENSP00000298808:A84T	A	+	1	0	ANKRD2	99327628	0.000000	0.05858	0.004000	0.12327	0.529000	0.34654	-0.191000	0.09601	0.544000	0.28883	-0.311000	0.09066	GCA	ANKRD2	-	NULL	ENSG00000165887		0.617	ANKRD2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD2	HGNC	protein_coding		-	0.00	44	0	G			99337638	+1	tier1	-	no_errors	ENST00000307518	ensembl	human	known	74_37	missense	9.62	47	5	SNP	0.002	A
ANKRD33B	651746	genome.wustl.edu	37	5	10564910	10564910	+	Missense_Mutation	SNP	G	G	A			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr5:10564910G>A	ENST00000296657.5	+	1	331	c.331G>A	c.(331-333)Gtc>Atc	p.V111I		NM_001164440.1	NP_001157912.1	A6NCL7	AN33B_HUMAN	ankyrin repeat domain 33B	111																	CGGGGTGAGCGTCGAGGAGGC	0.731																																																	0													4.0	3.0	3.0					5																	10564910		659	1479	2138	SO:0001583	missense	0				CCDS47191.1	5p15.2	2013-01-10			ENSG00000164236	ENSG00000164236		"""Ankyrin repeat domain containing"""	35240	protein-coding gene	gene with protein product							Standard	NM_001164440		Approved		uc021xwp.1	A6NCL7	OTTHUMG00000162050	ENST00000296657.5:c.331G>A	5.37:g.10564910G>A	ENSP00000296657:p.Val111Ile			Missense_Mutation	SNP	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	p.V111I	ENST00000296657.5	37	c.331	CCDS47191.1	5	.	.	.	.	.	.	.	.	.	.	G	11.79	1.744173	0.30865	.	.	ENSG00000164236	ENST00000296657	T	0.65549	-0.16	3.6	2.68	0.31781	.	1.499260	0.04803	U	0.433876	T	0.51210	0.1661	N	0.25245	0.725	0.09310	N	1	.	.	.	.	.	.	T	0.40850	-0.9541	8	0.20519	T	0.43	-10.4331	10.1196	0.42612	0.0:0.0:0.7912:0.2088	.	.	.	.	I	111	ENSP00000296657:V111I	ENSP00000296657:V111I	V	+	1	0	ANKRD33B	10617910	0.064000	0.20934	0.533000	0.28001	0.543000	0.35085	2.478000	0.45189	0.641000	0.30601	0.561000	0.74099	GTC	ANKRD33B	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	ENSG00000164236		0.731	ANKRD33B-001	NOVEL	not_best_in_genome_evidence|basic|appris_principal|exp_conf|CCDS	protein_coding	ANKRD33B	HGNC	protein_coding	OTTHUMT00000367037.3	-	0.00	28	0	G	XM_001130634		10564910	+1	tier1	-	no_errors	ENST00000504806	ensembl	human	known	74_37	missense	25.00	18	6	SNP	0.204	A
ANKRD36BP2	645784	genome.wustl.edu	37	2	89092006	89092006	+	RNA	SNP	C	C	T			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr2:89092006C>T	ENST00000393525.3	+	0	1084									ankyrin repeat domain 36B pseudogene 2																		AAATAACCAGCCACAGGTATG	0.294																																																	0																																												0					2q11.2	2010-09-30			ENSG00000230006	ENSG00000230006			33607	pseudogene	pseudogene							Standard	NR_015424		Approved		uc010fhg.4		OTTHUMG00000151690		2.37:g.89092006C>T				RNA	SNP	-	NULL	ENST00000393525.3	37	NULL		2																																																																																			ANKRD36BP2	-	-	ENSG00000230006		0.294	ANKRD36BP2-003	KNOWN	basic	processed_transcript	ANKRD36BP2	HGNC	pseudogene	OTTHUMT00000323523.1	-	0.00	199	0	C			89092006	+1	tier1	-	no_errors	ENST00000393515	ensembl	human	known	74_37	rna	27.18	150	56	SNP	0.114	T
AOC1	26	genome.wustl.edu	37	7	150553895	150553895	+	Missense_Mutation	SNP	G	G	A			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr7:150553895G>A	ENST00000493429.1	+	4	921	c.337G>A	c.(337-339)Gag>Aag	p.E113K	AOC1_ENST00000416793.2_Missense_Mutation_p.E113K|AOC1_ENST00000360937.4_Missense_Mutation_p.E113K|AOC1_ENST00000467291.1_Missense_Mutation_p.E113K			P19801	AOC1_HUMAN	amine oxidase, copper containing 1	113					amine metabolic process (GO:0009308)|cellular response to azide (GO:0097185)|cellular response to copper ion (GO:0071280)|cellular response to copper ion starvation (GO:0035874)|cellular response to heparin (GO:0071504)|cellular response to histamine (GO:0071420)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|diamine oxidase activity (GO:0052597)|drug binding (GO:0008144)|heparin binding (GO:0008201)|histamine oxidase activity (GO:0052598)|methylputrescine oxidase activity (GO:0052599)|primary amine oxidase activity (GO:0008131)|propane-1,3-diamine oxidase activity (GO:0052600)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|receptor activity (GO:0004872)|sodium channel activity (GO:0005272)|zinc ion binding (GO:0008270)									Amiloride(DB00594)	CAATGTCACCGAGTTTGCTGT	0.607																																																	0													77.0	77.0	77.0					7																	150553895		1919	4124	6043	SO:0001583	missense	0			AK092514	CCDS43679.1, CCDS64797.1	7q36.1	2013-06-19	2013-06-19	2013-06-19	ENSG00000002726	ENSG00000002726	1.4.3.22		80	protein-coding gene	gene with protein product	"""diamine oxidase"""	104610	"""amiloride binding protein 1 (amine oxidase (copper-containing))"""	ABP1		8182053	Standard	NM_001091		Approved	DAO	uc003wia.2	P19801	OTTHUMG00000158306	ENST00000493429.1:c.337G>A	7.37:g.150553895G>A	ENSP00000418614:p.Glu113Lys		C9J690|Q16683|Q16684|Q56II4|Q6GU42	Missense_Mutation	SNP	pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N2,pfam_Cu_amine_oxidase_N3,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase	p.E113K	ENST00000493429.1	37	c.337	CCDS43679.1	7	.	.	.	.	.	.	.	.	.	.	G	21.7	4.181806	0.78677	.	.	ENSG00000002726	ENST00000493429;ENST00000467291;ENST00000460213;ENST00000360937;ENST00000416793;ENST00000483043	T;T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3;1.3	5.32	5.32	0.75619	Copper amine oxidase, N2/N3-terminal (1);Copper amine oxidase, N-terminal (1);Copper amine oxidase, N2-terminal (1);	0.000000	0.85682	D	0.000000	T	0.67692	0.2920	M	0.90595	3.13	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.992;0.999	T	0.74982	-0.3478	10	0.72032	D	0.01	-35.973	16.4782	0.84144	0.0:0.0:1.0:0.0	.	113;113	C9J690;P19801	.;ABP1_HUMAN	K	113	ENSP00000418614:E113K;ENSP00000418328:E113K;ENSP00000418557:E113K;ENSP00000354193:E113K;ENSP00000411613:E113K;ENSP00000417392:E113K	ENSP00000354193:E113K	E	+	1	0	ABP1	150184828	1.000000	0.71417	0.985000	0.45067	0.345000	0.29048	7.378000	0.79679	2.501000	0.84356	0.655000	0.94253	GAG	AOC1	-	pfam_Cu_amine_oxidase_N2,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase	ENSG00000002726		0.607	AOC1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AOC1	HGNC	protein_coding	OTTHUMT00000350628.1	-	0.00	37	0	G	NM_001091		150553895	+1	tier1	-	no_errors	ENST00000416793	ensembl	human	known	74_37	missense	7.69	48	4	SNP	1.000	A
AP3D1	8943	genome.wustl.edu	37	19	2137743	2137743	+	Missense_Mutation	SNP	A	A	G			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr19:2137743A>G	ENST00000345016.5	-	3	487	c.256T>C	c.(256-258)Tcc>Ccc	p.S86P	AP3D1_ENST00000355272.6_Missense_Mutation_p.S86P|AP3D1_ENST00000350812.6_Missense_Mutation_p.S86P|AP3D1_ENST00000356926.4_Missense_Mutation_p.S86P	NM_003938.6	NP_003929.4	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	86					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|endosome to melanosome transport (GO:0035646)|eye pigment biosynthetic process (GO:0006726)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein localization to membrane (GO:0072657)|protein localization to organelle (GO:0033365)|regulation of sequestering of zinc ion (GO:0061088)|synaptic vesicle membrane organization (GO:0048499)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane coat (GO:0030117)|terminal bouton (GO:0043195)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGAACTTGGAGGCACTCATC	0.507																																																	0													164.0	166.0	165.0					19																	2137743		2002	4164	6166	SO:0001583	missense	0			U91930	CCDS42459.1, CCDS58638.1	19p13.3	2014-09-04			ENSG00000065000	ENSG00000065000			568	protein-coding gene	gene with protein product		607246				9151686, 9303295	Standard	NM_003938		Approved	ADTD	uc002lva.4	O14617	OTTHUMG00000180354	ENST00000345016.5:c.256T>C	19.37:g.2137743A>G	ENSP00000344055:p.Ser86Pro		O00202|O75262|Q59HF5|Q96G11|Q9H3C6	Missense_Mutation	SNP	pfam_BLV_receptor,pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_complex_dsu	p.S86P	ENST00000345016.5	37	c.256	CCDS42459.1	19	.	.	.	.	.	.	.	.	.	.	A	20.6	4.011313	0.75046	.	.	ENSG00000065000	ENST00000356926;ENST00000345016;ENST00000355272;ENST00000343722;ENST00000350812	T;T;T;T	0.12569	2.67;2.67;2.67;2.67	5.24	5.24	0.73138	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.18130	0.0435	N	0.17278	0.47	0.25903	N	0.983336	B;B;D	0.71674	0.024;0.049;0.998	B;B;P	0.62089	0.02;0.039;0.898	T	0.18398	-1.0338	10	0.19590	T	0.45	-40.7615	14.2956	0.66311	1.0:0.0:0.0:0.0	.	86;86;86	O14617-5;O14617;G5E988	.;AP3D1_HUMAN;.	P	86	ENSP00000349398:S86P;ENSP00000344055:S86P;ENSP00000347416:S86P;ENSP00000342321:S86P	ENSP00000341579:S86P	S	-	1	0	AP3D1	2088743	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.747000	0.68689	1.979000	0.57680	0.460000	0.39030	TCC	AP3D1	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_complex_dsu	ENSG00000065000		0.507	AP3D1-002	KNOWN	basic|CCDS	protein_coding	AP3D1	HGNC	protein_coding	OTTHUMT00000450912.1		0.00	44	0	A			2137743	-1			no_errors	ENST00000355272	ensembl	human	known	74_37	missense	8.16	45	4	SNP	1.000	G
AP3S1	1176	genome.wustl.edu	37	5	115205713	115205713	+	Splice_Site	SNP	G	G	T			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr5:115205713G>T	ENST00000316788.7	+	3	718		c.e3-1			NM_001284.2	NP_001275.1	Q92572	AP3S1_HUMAN	adaptor-related protein complex 3, sigma 1 subunit						anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|insulin receptor signaling pathway (GO:0008286)|intracellular protein transport (GO:0006886)	AP-3 adaptor complex (GO:0030123)|AP-type membrane coat adaptor complex (GO:0030119)|Golgi apparatus (GO:0005794)|transport vesicle (GO:0030133)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	12		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05)		TTGTCATTTAGATTAATTGGA	0.299																																																	0													86.0	83.0	84.0					5																	115205713		2202	4293	6495	SO:0001630	splice_region_variant	0			D63643	CCDS4123.1	5q22	2010-06-29			ENSG00000177879	ENSG00000177879			2013	protein-coding gene	gene with protein product		601507		CLAPS3		8697810, 9118953	Standard	NM_001284		Approved		uc003krl.3	Q92572	OTTHUMG00000128887	ENST00000316788.7:c.162-1G>T	5.37:g.115205713G>T			O00647|O00676|O00721|O00727|Q53XL4|Q6ICQ2	Splice_Site	SNP	-	e3-1	ENST00000316788.7	37	c.162-1	CCDS4123.1	5	.	.	.	.	.	.	.	.	.	.	G	22.4	4.279247	0.80692	.	.	ENSG00000177879	ENST00000316788	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0618	0.93096	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	AP3S1	115233612	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.268000	0.95675	2.669000	0.90835	0.655000	0.94253	.	AP3S1	-	-	ENSG00000177879		0.299	AP3S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP3S1	HGNC	protein_coding	OTTHUMT00000250847.2		0.00	50	0	G		Intron	115205713	+1			no_errors	ENST00000316788	ensembl	human	known	74_37	splice_site	6.15	61	4	SNP	1.000	T
AQP10	89872	genome.wustl.edu	37	1	154295554	154295554	+	Missense_Mutation	SNP	C	C	A			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr1:154295554C>A	ENST00000324978.3	+	3	369	c.329C>A	c.(328-330)tCt>tAt	p.S110Y	AQP10_ENST00000355197.4_3'UTR|AQP10_ENST00000484864.1_Missense_Mutation_p.S110Y|ATP8B2_ENST00000368487.3_5'Flank	NM_080429.2	NP_536354.2	Q96PS8	AQP10_HUMAN	aquaporin 10	110					response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CAGTTGCTGTCTGCTTTCTGT	0.592																																																	0													148.0	140.0	142.0					1																	154295554		2203	4300	6503	SO:0001583	missense	0			AF159174	CCDS1065.1	1q21.3	2008-02-05			ENSG00000143595	ENSG00000143595		"""Ion channels / Aquaporins"""	16029	protein-coding gene	gene with protein product		606578				11573934	Standard	NM_080429		Approved		uc001feu.3	Q96PS8	OTTHUMG00000035980	ENST00000324978.3:c.329C>A	1.37:g.154295554C>A	ENSP00000318355:p.Ser110Tyr		Q5VYD3|Q5VYD4|Q8NG70	Missense_Mutation	SNP	pfam_MIP,superfamily_Aquaporin-like,prints_MIP,prints_Aquaporin_10,prints_Aquaporin_3,tigrfam_MIP	p.S110Y	ENST00000324978.3	37	c.329	CCDS1065.1	1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.137724	0.77775	.	.	ENSG00000143595	ENST00000324978;ENST00000484864	T;T	0.11385	2.78;2.78	4.92	4.92	0.64577	Aquaporin-like (2);	0.265199	0.35677	N	0.003059	T	0.09992	0.0245	L	0.47716	1.5	0.32374	N	0.555484	D;D	0.57571	0.98;0.963	P;P	0.52267	0.694;0.671	T	0.01001	-1.1485	10	0.87932	D	0	.	11.893	0.52641	0.0:0.7182:0.2817:0.0	.	110;110	Q96PS8-2;Q96PS8	.;AQP10_HUMAN	Y	110	ENSP00000318355:S110Y;ENSP00000420341:S110Y	ENSP00000318355:S110Y	S	+	2	0	AQP10	152562178	0.999000	0.42202	1.000000	0.80357	0.917000	0.54804	4.628000	0.61282	2.585000	0.87301	0.555000	0.69702	TCT	AQP10	-	pfam_MIP,superfamily_Aquaporin-like,prints_MIP,tigrfam_MIP	ENSG00000143595		0.592	AQP10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AQP10	HGNC	protein_coding	OTTHUMT00000087661.1	-	0.00	56	0	C	NM_080429		154295554	+1	tier1	-	no_errors	ENST00000324978	ensembl	human	known	74_37	missense	5.80	65	4	SNP	1.000	A
ARHGAP28	79822	genome.wustl.edu	37	18	6882161	6882161	+	Missense_Mutation	SNP	A	A	C			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr18:6882161A>C	ENST00000383472.4	+	11	1420	c.1316A>C	c.(1315-1317)aAg>aCg	p.K439T	ARHGAP28_ENST00000532996.1_Missense_Mutation_p.K262T|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.K280T|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.K280T|ARHGAP28_ENST00000419673.2_Missense_Mutation_p.K280T|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.K439T|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.K387T|ARHGAP28_ENST00000531294.1_Missense_Mutation_p.K275T			Q9P2N2	RHG28_HUMAN	Rho GTPase activating protein 28	439	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				CTTGATGCCAAGTTTAATGCT	0.398																																																	0													153.0	148.0	150.0					18																	6882161		2203	4300	6503	SO:0001583	missense	0			BC033668	CCDS32785.1	18p11.23	2011-06-29				ENSG00000088756		"""Rho GTPase activating proteins"""	25509	protein-coding gene	gene with protein product		610592				10718198	Standard	NM_001010000		Approved	KIAA1314, FLJ10312	uc002kne.3	Q9P2N2		ENST00000383472.4:c.1316A>C	18.37:g.6882161A>C	ENSP00000372964:p.Lys439Thr		A8MQB7|A8MU88|Q6P160|Q8N4T3|Q9NW53	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.K439T	ENST00000383472.4	37	c.1316		18	.	.	.	.	.	.	.	.	.	.	A	19.10	3.761699	0.69763	.	.	ENSG00000088756	ENST00000400091;ENST00000262227;ENST00000419673;ENST00000531294;ENST00000314319;ENST00000418986;ENST00000532996;ENST00000383472	T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97	5.68	3.31	0.37934	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.338213	0.34067	N	0.004295	T	0.47838	0.1467	L	0.52364	1.645	0.33952	D	0.644593	P;B;B;B	0.37781	0.608;0.368;0.171;0.051	P;B;B;B	0.51833	0.681;0.217;0.098;0.067	T	0.55885	-0.8070	10	0.28530	T	0.3	.	9.2879	0.37769	0.8525:0.0:0.1475:0.0	.	439;271;280;387	Q9P2N2;E9PRP2;F6VKJ9;Q9P2N2-2	RHG28_HUMAN;.;.;.	T	439;387;280;275;280;280;271;262	ENSP00000382963:K439T;ENSP00000262227:K387T;ENSP00000392660:K280T;ENSP00000437262:K275T;ENSP00000313506:K280T;ENSP00000406907:K280T	ENSP00000262227:K387T	K	+	2	0	ARHGAP28	6872161	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.996000	0.57009	0.445000	0.26639	0.533000	0.62120	AAG	ARHGAP28	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	ENSG00000088756		0.398	ARHGAP28-006	NOVEL	basic|appris_principal	protein_coding	ARHGAP28	HGNC	protein_coding	OTTHUMT00000442123.3	-	0.00	56	0	A	XM_371108		6882161	+1	tier1	-	no_errors	ENST00000400091	ensembl	human	known	74_37	missense	11.76	45	6	SNP	1.000	C
ARPC4	10093	genome.wustl.edu	37	3	9834826	9834826	+	Intron	SNP	C	C	G			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr3:9834826C>G	ENST00000397261.3	+	1	567				TADA3_ENST00000440161.1_5'Flank|ARPC4-TTLL3_ENST00000397256.1_Intron|ARPC4_ENST00000498623.2_Intron|ARPC4_ENST00000433034.1_Silent_p.P7P|TADA3_ENST00000492635.1_5'Flank|TADA3_ENST00000301964.2_5'Flank|TADA3_ENST00000343450.2_5'Flank|ARPC4_ENST00000287613.7_Intron	NM_005718.4	NP_005709.1	P59998	ARPC4_HUMAN	actin related protein 2/3 complex, subunit 4, 20kDa						actin filament polymerization (GO:0030041)|actin nucleation (GO:0045010)|Arp2/3 complex-mediated actin nucleation (GO:0034314)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	Arp2/3 protein complex (GO:0005885)|cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|lung(1)	2	Medulloblastoma(99;0.227)					AGCCGGGCCCCCGGCCAGGGA	0.726																																																	0													2.0	3.0	3.0					3																	9834826		1447	3467	4914	SO:0001627	intron_variant	0			AF019888	CCDS43047.1, CCDS46743.1, CCDS56238.1	3p25	2011-07-06	2002-08-29		ENSG00000241553	ENSG00000241553		"""Actin related protein 2/3 complex subunits"""	707	protein-coding gene	gene with protein product	"""Arp2/3 protein complex subunit p20"", ""actin related protein 2/3 complex, subunit 4 (20 kD)"""	604226	"""actin related protein 2/3 complex, subunit 4 (20 kD)"""			9230079, 9359840	Standard	NM_005718		Approved	p20-Arc, ARC20		P59998	OTTHUMG00000133768	ENST00000397261.3:c.3+18C>G	3.37:g.9834826C>G			C9JWM7|E7ETI0|F6TTL5|O15509|Q6P0W5|Q96QJ3	Silent	SNP	pfam_ARPC4	p.P7	ENST00000397261.3	37	c.21	CCDS43047.1	3																																																																																			ARPC4	-	NULL	ENSG00000241553		0.726	ARPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARPC4	HGNC	protein_coding	OTTHUMT00000258275.2	-	0.00	56	0	C	NM_001024959		9834826	+1	tier1	-	no_errors	ENST00000433034	ensembl	human	putative	74_37	silent	38.00	31	19	SNP	0.040	G
ASIC5	51802	genome.wustl.edu	37	4	156764860	156764860	+	Silent	SNP	G	G	A			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr4:156764860G>A	ENST00000537611.2	-	5	880	c.834C>T	c.(832-834)caC>caT	p.H278H		NM_017419.2	NP_059115.1	Q9NY37	ASIC5_HUMAN	acid-sensing (proton-gated) ion channel family member 5	278					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrogen ion channel activity (GO:0015252)|ligand-gated sodium channel activity (GO:0015280)										TTACCCTTGCGTGCATTCCCA	0.453																																																	0													162.0	134.0	144.0					4																	156764860		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ252011	CCDS3793.1	4q32.1	2012-10-03	2012-03-02	2012-03-02	ENSG00000256394	ENSG00000256394			17537	protein-coding gene	gene with protein product			"""amiloride-sensitive cation channel 5, intestinal"""	ACCN5		10767424	Standard	NM_017419		Approved	INAC, HINAC	uc003ipe.1	Q9NY37	OTTHUMG00000161941	ENST00000537611.2:c.834C>T	4.37:g.156764860G>A				Silent	SNP	pfam_Na+channel_ASC,prints_Na+channel_ASC	p.H278	ENST00000537611.2	37	c.834	CCDS3793.1	4																																																																																			ASIC5	-	pfam_Na+channel_ASC	ENSG00000256394		0.453	ASIC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASIC5	HGNC	protein_coding	OTTHUMT00000366464.1	-	0.00	95	0	G			156764860	-1	tier1	-	no_errors	ENST00000537611	ensembl	human	known	74_37	silent	14.71	58	10	SNP	0.007	A
CEP131	22994	genome.wustl.edu	37	17	79165000	79165000	+	Missense_Mutation	SNP	C	C	T	rs577025986		TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr17:79165000C>T	ENST00000269392.4	-	22	3014	c.2767G>A	c.(2767-2769)Gag>Aag	p.E923K	AZI1_ENST00000374782.3_Missense_Mutation_p.E884K|AZI1_ENST00000575907.1_Missense_Mutation_p.E887K|AZI1_ENST00000450824.2_Missense_Mutation_p.E920K	NM_014984.2	NP_055799.2	Q9UPN4	CP131_HUMAN		923					cell differentiation (GO:0030154)|G2/M transition of mitotic cell cycle (GO:0000086)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular protein transport (GO:0090316)|regulation of centrosome duplication (GO:0010824)|spermatogenesis (GO:0007283)	BBSome (GO:0034464)|cell projection (GO:0042995)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)	p.E920K(1)|p.E884K(1)		breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			TACCGGCTCTCGGCAGCCTTC	0.652													C|||	1	0.000199681	0.0	0.0	5008	,	,		13518	0.001		0.0	False		,,,				2504	0.0																2	Substitution - Missense(2)	urinary_tract(2)											51.0	56.0	54.0					17																	79165000		2203	4300	6503	SO:0001583	missense	0																														ENST00000269392.4:c.2767G>A	17.37:g.79165000C>T	ENSP00000269392:p.Glu923Lys		A6NHI8|B2RN11|Q96F50	Missense_Mutation	SNP	superfamily_t-SNARE	p.E923K	ENST00000269392.4	37	c.2767		17	.	.	.	.	.	.	.	.	.	.	C	17.97	3.519393	0.64634	.	.	ENSG00000141577	ENST00000450824;ENST00000374782;ENST00000269392	T;T;T	0.17213	2.29;2.34;2.29	5.15	4.18	0.49190	.	0.124400	0.52532	D	0.000062	T	0.34803	0.0910	M	0.63843	1.955	0.58432	D	0.999999	D;D;D;D	0.89917	0.997;1.0;0.973;0.973	P;D;B;B	0.67231	0.877;0.95;0.406;0.406	T	0.04178	-1.0971	10	0.27785	T	0.31	-20.5648	13.2217	0.59892	0.0:0.9231:0.0:0.0769	.	920;923;884;920	B2RN10;Q9UPN4;Q9UPN4-3;Q9UPN4-2	.;AZI1_HUMAN;.;.	K	920;884;923	ENSP00000393583:E920K;ENSP00000363914:E884K;ENSP00000269392:E923K	ENSP00000269392:E923K	E	-	1	0	AZI1	76779595	1.000000	0.71417	0.796000	0.32109	0.024000	0.10985	7.355000	0.79434	1.161000	0.42604	0.591000	0.81541	GAG	AZI1	-	NULL	ENSG00000141577		0.652	AZI1-001	KNOWN	basic|appris_candidate_longest	protein_coding	AZI1	HGNC	protein_coding	OTTHUMT00000256070.1	-	0.00	91	0	C			79165000	-1	tier1	-	no_errors	ENST00000269392	ensembl	human	known	74_37	missense	39.71	82	54	SNP	0.999	T
BARD1	580	genome.wustl.edu	37	2	215645798	215645798	+	Missense_Mutation	SNP	G	G	T			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr2:215645798G>T	ENST00000260947.4	-	4	934	c.800C>A	c.(799-801)aCa>aAa	p.T267K	BARD1_ENST00000471787.1_5'UTR|BARD1_ENST00000449967.2_Missense_Mutation_p.T123K	NM_000465.2|NM_001282543.1|NM_001282545.1|NM_001282548.1	NP_000456.2|NP_001269472.1|NP_001269474.1|NP_001269477.1	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	267					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mRNA 3'-end processing (GO:0031441)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein catabolic process (GO:0045732)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of phosphorylation (GO:0042325)|tissue homeostasis (GO:0001894)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	kinase binding (GO:0019900)|ligase activity (GO:0016874)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTCAGATTCTGTCAAGGAGCC	0.413									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																																								0													62.0	65.0	64.0					2																	215645798		2203	4298	6501	SO:0001583	missense	0	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease		CCDS2397.1, CCDS74645.1, CCDS74646.1, CCDS74647.1, CCDS74648.1	2q34-q35	2013-01-10			ENSG00000138376	ENSG00000138376		"""Ankyrin repeat domain containing"""	952	protein-coding gene	gene with protein product		601593				8944023, 9425226, 15159397	Standard	NM_001282548		Approved		uc002veu.2	Q99728	OTTHUMG00000133016	ENST00000260947.4:c.800C>A	2.37:g.215645798G>T	ENSP00000260947:p.Thr267Lys		F6MDH7|F6MDH8|F6MDH9|O43574|Q53SS5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_BRCT_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_BRCT_dom,smart_Ankyrin_rpt,smart_BRCT_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BRCT_dom,pfscan_Znf_RING,prints_Ankyrin_rpt	p.T267K	ENST00000260947.4	37	c.800	CCDS2397.1	2	.	.	.	.	.	.	.	.	.	.	G	10.89	1.478767	0.26511	.	.	ENSG00000138376	ENST00000260947;ENST00000449967	T;T	0.72167	-0.63;0.01	5.61	-0.925	0.10458	.	1.316910	0.04620	N	0.401877	T	0.63988	0.2558	M	0.65975	2.015	0.09310	N	1	B;B	0.18863	0.031;0.006	B;B	0.14023	0.01;0.004	T	0.27020	-1.0086	10	0.18276	T	0.48	2.7358	4.7673	0.13139	0.357:0.0:0.214:0.4291	.	123;267	E7EUI3;Q99728	.;BARD1_HUMAN	K	267;123	ENSP00000260947:T267K;ENSP00000406752:T123K	ENSP00000260947:T267K	T	-	2	0	BARD1	215354043	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	0.046000	0.14035	-0.405000	0.07599	-0.911000	0.02809	ACA	BARD1	-	NULL	ENSG00000138376		0.413	BARD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BARD1	HGNC	protein_coding	OTTHUMT00000256602.1	-	0.00	30	0	G	NM_000465		215645798	-1	tier1	-	no_errors	ENST00000260947	ensembl	human	known	74_37	missense	24.24	25	8	SNP	0.000	T
BLVRB	645	genome.wustl.edu	37	19	40964008	40964008	+	Intron	SNP	C	C	A			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr19:40964008C>A	ENST00000263368.4	-	3	486				BLVRB_ENST00000595483.1_Intron	NM_000713.2	NP_000704.1	P30043	BLVRB_HUMAN	biliverdin reductase B (flavin reductase (NADPH))						heme catabolic process (GO:0042167)|porphyrin-containing compound metabolic process (GO:0006778)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	biliverdin reductase activity (GO:0004074)|riboflavin reductase (NADPH) activity (GO:0042602)			large_intestine(3)|lung(3)	6			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		Riboflavin(DB00140)	GGCCCCTGGGCTGCCTCCCCA	0.592																																																	0													34.0	43.0	41.0					19																	40964008		692	1591	2283	SO:0001627	intron_variant	0			D26308	CCDS33029.1	19q13.1-q13.2	2011-09-14				ENSG00000090013	1.3.1.24, 1.5.1.30	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	1063	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 43U, member 1"""	600941	"""Flavin reductase"""	FLR		7656592, 19027726	Standard	NM_000713		Approved	SDR43U1	uc002onw.2	P30043		ENST00000263368.4:c.334+53G>T	19.37:g.40964008C>A			A6NKD8|B2R5C6|P32078|P53005|Q32LZ2	Missense_Mutation	SNP	pfam_NmrA,pfam_Epimerase_deHydtase,pfam_3Beta_OHSteriod_DH/Estase	p.A130S	ENST00000263368.4	37	c.388	CCDS33029.1	19																																																																																			BLVRB	-	NULL	ENSG00000090013		0.592	BLVRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BLVRB	HGNC	protein_coding	OTTHUMT00000462563.1	-	0.00	45	0	C			40964008	-1	tier1	-	no_errors	ENST00000597870	ensembl	human	known	74_37	missense	21.43	33	9	SNP	0.051	A
BOD1L1	259282	genome.wustl.edu	37	4	13601004	13601004	+	Missense_Mutation	SNP	C	C	G			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr4:13601004C>G	ENST00000040738.5	-	10	7655	c.7520G>C	c.(7519-7521)gGa>gCa	p.G2507A		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	2507						nucleus (GO:0005634)	DNA binding (GO:0003677)										CTGTTCTGGTCCTCTCAGGTG	0.542											OREG0016115	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													67.0	56.0	60.0					4																	13601004		2203	4300	6503	SO:0001583	missense	0			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.7520G>C	4.37:g.13601004C>G	ENSP00000040738:p.Gly2507Ala	688	Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	NULL	p.G2507A	ENST00000040738.5	37	c.7520	CCDS3411.2	4	.	.	.	.	.	.	.	.	.	.	C	9.174	1.021961	0.19433	.	.	ENSG00000038219	ENST00000040738	T	0.06768	3.26	4.66	1.89	0.25635	.	0.710101	0.12564	N	0.457902	T	0.03783	0.0107	N	0.24115	0.695	0.09310	N	1	B	0.32918	0.39	B	0.27380	0.079	T	0.36553	-0.9743	10	0.06494	T	0.89	.	4.1389	0.10184	0.1662:0.5426:0.0:0.2912	.	2507	Q8NFC6	BOD1L_HUMAN	A	2507	ENSP00000040738:G2507A	ENSP00000040738:G2507A	G	-	2	0	BOD1L	13210102	0.000000	0.05858	0.002000	0.10522	0.035000	0.12851	0.538000	0.23160	0.499000	0.27970	0.555000	0.69702	GGA	BOD1L1	-	NULL	ENSG00000038219		0.542	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BOD1L1	HGNC	protein_coding	OTTHUMT00000207321.1	-	0.00	34	0	C	NM_148894		13601004	-1	tier1	-	no_errors	ENST00000040738	ensembl	human	known	74_37	missense	13.33	26	4	SNP	0.000	G
BMPR1B	658	genome.wustl.edu	37	4	96052397	96052397	+	Silent	SNP	G	G	T			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr4:96052397G>T	ENST00000515059.1	+	10	1093	c.810G>T	c.(808-810)ggG>ggT	p.G270G	BMPR1B_ENST00000264568.4_Silent_p.G270G|BMPR1B_ENST00000440890.2_Silent_p.G300G|BMPR1B_ENST00000394931.1_Silent_p.G270G	NM_001203.2	NP_001194.1	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB	270	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				BMP signaling pathway (GO:0030509)|cartilage condensation (GO:0001502)|chondrocyte differentiation (GO:0002062)|dorsal/ventral pattern formation (GO:0009953)|eye development (GO:0001654)|inflammatory response (GO:0006954)|limb morphogenesis (GO:0035108)|ovarian cumulus expansion (GO:0001550)|ovulation cycle (GO:0042698)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell differentiation (GO:0045597)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of osteoblast differentiation (GO:0045669)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|skeletal system development (GO:0001501)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta receptor activity, type I (GO:0005025)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)	p.G270G(2)		breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		AAGGGACAGGGTCCTGGACCC	0.373																																																	2	Substitution - coding silent(2)	upper_aerodigestive_tract(2)											75.0	64.0	68.0					4																	96052397		2203	4300	6503	SO:0001819	synonymous_variant	0			D89675	CCDS3642.1, CCDS58919.1	4q23-q24	2008-02-05			ENSG00000138696	ENSG00000138696		"""CD molecules"""	1077	protein-coding gene	gene with protein product		603248				8140412, 9730621	Standard	NM_001203		Approved	ALK6, CDw293	uc031sgn.1	O00238	OTTHUMG00000130991	ENST00000515059.1:c.810G>T	4.37:g.96052397G>T			B2R953|B4DSV1|P78366	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_TGFB_receptor	p.G300	ENST00000515059.1	37	c.900	CCDS3642.1	4																																																																																			BMPR1B	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000138696		0.373	BMPR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMPR1B	HGNC	protein_coding	OTTHUMT00000253609.3	-	0.00	51	0	G	NM_001203		96052397	+1	tier1	-	no_errors	ENST00000440890	ensembl	human	known	74_37	silent	5.97	63	4	SNP	0.996	T
BRAT1	221927	genome.wustl.edu	37	7	2581844	2581844	+	Splice_Site	SNP	G	G	T			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr7:2581844G>T	ENST00000340611.4	-	7	1181	c.925C>A	c.(925-927)Cca>Aca	p.P309T	BRAT1_ENST00000473879.1_5'Flank	NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN	BRCA1-associated ATM activator 1	309					response to ionizing radiation (GO:0010212)	membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						AGTGCCTGTGGACTGGAGACA	0.652																																																	0													34.0	29.0	31.0					7																	2581844		2168	4266	6434	SO:0001630	splice_region_variant	0			BC015632	CCDS5334.1	7p22.3	2011-03-22	2011-02-28	2011-03-22	ENSG00000106009	ENSG00000106009			21701	protein-coding gene	gene with protein product	"""BRCA1-associated protein required for ATM activation protein 1"""	614506	"""chromosome 7 open reading frame 27"""	C7orf27, BAAT1		16452482	Standard	NM_152743		Approved	MGC22916	uc003smi.3	Q6PJG6	OTTHUMG00000119091	ENST00000340611.4:c.924-1C>A	7.37:g.2581844G>T			A4D200|C9JY24|Q8IW85|Q8IZ43|Q8WVR8|Q96IV9|Q9H7J8|Q9UFA3	Missense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold	p.P309T	ENST00000340611.4	37	c.925	CCDS5334.1	7	.	.	.	.	.	.	.	.	.	.	G	15.70	2.912009	0.52439	.	.	ENSG00000106009	ENST00000340611	D	0.93076	-3.16	5.57	5.57	0.84162	Armadillo-type fold (1);	0.114005	0.64402	D	0.000017	D	0.96393	0.8823	M	0.72118	2.19	0.58432	D	0.999995	D	0.89917	1.0	D	0.91635	0.999	D	0.96592	0.9438	10	0.72032	D	0.01	-22.6951	17.7032	0.88301	0.0:0.0:1.0:0.0	.	309	Q6PJG6	BRAT1_HUMAN	T	309	ENSP00000339637:P309T	ENSP00000339637:P309T	P	-	1	0	BRAT1	2548370	1.000000	0.71417	0.943000	0.38184	0.024000	0.10985	5.779000	0.68948	2.627000	0.88993	0.561000	0.74099	CCA	BRAT1	-	superfamily_ARM-type_fold	ENSG00000106009		0.652	BRAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRAT1	HGNC	protein_coding	OTTHUMT00000239305.2	-	0.00	47	0	G	NM_152743	Missense_Mutation	2581844	-1	tier1	-	no_errors	ENST00000340611	ensembl	human	known	74_37	missense	8.47	54	5	SNP	0.999	T
C1QTNF2	114898	genome.wustl.edu	37	5	159776421	159776421	+	Silent	SNP	G	G	A			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr5:159776421G>A	ENST00000393975.3	-	3	750	c.747C>T	c.(745-747)gcC>gcT	p.A249A		NM_031908.4	NP_114114.2	Q9BXJ5	C1QT2_HUMAN	C1q and tumor necrosis factor related protein 2	204	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				activation of MAPK activity (GO:0000187)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|protein heterotrimerization (GO:0070208)|protein homooligomerization (GO:0051260)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)				breast(2)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	13	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGTGCTTGTTGGCCAGCGTGA	0.592																																																	0													82.0	82.0	82.0					5																	159776421		2203	4300	6503	SO:0001819	synonymous_variant	0			AF329836	CCDS4351.2	5q33.3	2008-05-15			ENSG00000145861	ENSG00000145861			14325	protein-coding gene	gene with protein product							Standard	XM_005265815		Approved	CTRP2	uc003lyd.3	Q9BXJ5	OTTHUMG00000130323	ENST00000393975.3:c.747C>T	5.37:g.159776421G>A				Silent	SNP	pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	p.A249	ENST00000393975.3	37	c.747	CCDS4351.2	5																																																																																			C1QTNF2	-	pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	ENSG00000145861		0.592	C1QTNF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1QTNF2	HGNC	protein_coding	OTTHUMT00000252672.2	-	0.00	41	0	G			159776421	-1	tier1	-	no_errors	ENST00000393975	ensembl	human	known	74_37	silent	17.39	19	4	SNP	1.000	A
C3AR1	719	genome.wustl.edu	37	12	8211653	8211653	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr12:8211653G>A	ENST00000307637.4	-	2	1332	c.1129C>T	c.(1129-1131)Cga>Tga	p.R377*		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	377					blood circulation (GO:0008015)|chemotaxis (GO:0006935)|complement receptor mediated signaling pathway (GO:0002430)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation vascular endothelial growth factor production (GO:0010575)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C3a anaphylatoxin receptor activity (GO:0004943)|complement component C3a receptor activity (GO:0004876)|G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		ACGGCCACTCGAAAGGTTTTG	0.517																																																	0													62.0	57.0	59.0					12																	8211653		2203	4300	6503	SO:0001587	stop_gained	0			U28488	CCDS8588.1	12p13.31	2012-08-10				ENSG00000171860		"""Complement system"", ""GPCR / Class A : Complement component receptors"""	1319	protein-coding gene	gene with protein product		605246				8605247	Standard	NM_004054		Approved	C3AR, AZ3B	uc001qtv.1	Q16581		ENST00000307637.4:c.1129C>T	12.37:g.8211653G>A	ENSP00000302079:p.Arg377*		O43771|Q92868	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Anaphtx_C3AR1,prints_GPCR_Rhodpsn,prints_Anphylx_rcpt,prints_Formyl_pep_rcpt,prints_Anaphtx_C5AR1/C5AR2	p.R377*	ENST00000307637.4	37	c.1129	CCDS8588.1	12	.	.	.	.	.	.	.	.	.	.	G	19.60	3.857796	0.71834	.	.	ENSG00000171860	ENST00000307637	.	.	.	5.79	-3.19	0.05171	.	0.424009	0.17976	N	0.155684	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.2753	0.54730	0.0716:0.0:0.1655:0.7629	.	.	.	.	X	377	.	ENSP00000302079:R377X	R	-	1	2	C3AR1	8102920	0.000000	0.05858	0.000000	0.03702	0.215000	0.24574	0.132000	0.15891	-0.181000	0.10619	0.655000	0.94253	CGA	C3AR1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Anaphtx_C3AR1,prints_GPCR_Rhodpsn	ENSG00000171860		0.517	C3AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3AR1	HGNC	protein_coding	OTTHUMT00000400254.1	-	0.00	45	0	G			8211653	-1	tier1	-	no_errors	ENST00000307637	ensembl	human	known	74_37	nonsense	29.82	40	17	SNP	0.000	A
CACNA1A	773	genome.wustl.edu	37	19	13409467	13409467	+	Missense_Mutation	SNP	C	C	T			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr19:13409467C>T	ENST00000360228.5	-	19	2979	c.2980G>A	c.(2980-2982)Gag>Aag	p.E994K	CACNA1A_ENST00000573710.2_Missense_Mutation_p.E995K	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	995					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	tcggggccctcgccctcgccc	0.791																																																	0													12.0	11.0	11.0					19																	13409467		1280	2619	3899	SO:0001583	missense	0			U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.2980G>A	19.37:g.13409467C>T	ENSP00000353362:p.Glu994Lys		J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su	p.E994K	ENST00000360228.5	37	c.2980	CCDS45998.1	19	.	.	.	.	.	.	.	.	.	.	C	12.64	1.997254	0.35226	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.95821	-3.82	1.91	1.91	0.25777	.	26.724300	0.00714	N	0.000849	D	0.93664	0.7976	L	0.54323	1.7	0.31344	N	0.683325	B;B;D	0.56968	0.185;0.281;0.978	B;B;B	0.41894	0.012;0.016;0.369	D	0.87530	0.2452	10	0.28530	T	0.3	.	9.8436	0.41013	0.0:1.0:0.0:0.0	.	995;998;994	O00555;E9PD31;Q9NS88	CAC1A_HUMAN;.;.	K	994;998;995;995	ENSP00000353362:E994K	ENSP00000317661:E995K	E	-	1	0	CACNA1A	13270467	0.000000	0.05858	0.977000	0.42913	0.760000	0.43138	0.548000	0.23314	1.389000	0.46526	0.407000	0.27541	GAG	CACNA1A	-	NULL	ENSG00000141837		0.791	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1A	HGNC	protein_coding	OTTHUMT00000104062.2		0.00	25	0	C	NM_000068		13409467	-1			no_errors	ENST00000360228	ensembl	human	known	74_37	missense	17.65	14	3	SNP	0.992	T
CACNA1E	777	genome.wustl.edu	37	1	181767512	181767512	+	Missense_Mutation	SNP	G	G	A	rs373618053	byFrequency	TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr1:181767512G>A	ENST00000367573.2	+	48	6484	c.6484G>A	c.(6484-6486)Gtc>Atc	p.V2162I	CACNA1E_ENST00000360108.3_Missense_Mutation_p.V2143I|CACNA1E_ENST00000358338.5_Missense_Mutation_p.V2051I|CACNA1E_ENST00000367570.1_Missense_Mutation_p.V2119I|CACNA1E_ENST00000367567.4_Missense_Mutation_p.V1726I|CACNA1E_ENST00000526775.1_Missense_Mutation_p.V2100I|CACNA1E_ENST00000357570.5_Missense_Mutation_p.V2113I	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2162					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GCTCCCACCCGTCCCGCCAAA	0.627													G|||	3	0.000599042	0.0015	0.0	5008	,	,		16293	0.0		0.0	False		,,,				2504	0.001																0								G	ILE/VAL,ILE/VAL,ILE/VAL	1,3993		0,1,1996	81.0	94.0	90.0		6355,6484,6298	3.7	0.3	1		90	1,8307		0,1,4153	no	missense,missense,missense	CACNA1E	NM_000721.3,NM_001205293.1,NM_001205294.1	29,29,29	0,2,6149	AA,AG,GG		0.012,0.025,0.0163	possibly-damaging,possibly-damaging,possibly-damaging	2119/2271,2162/2314,2100/2252	181767512	2,12300	1997	4154	6151	SO:0001583	missense	0			AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.6484G>A	1.37:g.181767512G>A	ENSP00000356545:p.Val2162Ile		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su	p.V2162I	ENST00000367573.2	37	c.6484	CCDS55664.1	1	.	.	.	.	.	.	.	.	.	.	G	18.58	3.654889	0.67472	2.5E-4	1.2E-4	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.96300	-3.9;-3.9;-3.9;-3.9;-3.97;-3.91;-3.9	5.55	3.66	0.41972	.	0.405200	0.26432	N	0.024414	D	0.93197	0.7833	N	0.22421	0.69	0.37095	D	0.899647	D;B	0.61080	0.989;0.306	P;B	0.47915	0.561;0.038	D	0.93286	0.6664	10	0.66056	D	0.02	.	11.6544	0.51309	0.0684:0.1229:0.8087:0.0	.	2100;2119	Q15878-2;Q15878-3	.;.	I	2119;2100;2113;2051;1726;2143;2162	ENSP00000356542:V2119I;ENSP00000434814:V2100I;ENSP00000350183:V2113I;ENSP00000351101:V2051I;ENSP00000356539:V1726I;ENSP00000353222:V2143I;ENSP00000356545:V2162I	ENSP00000350183:V2113I	V	+	1	0	CACNA1E	180034135	1.000000	0.71417	0.258000	0.24420	0.878000	0.50629	3.732000	0.55021	0.665000	0.31066	-0.336000	0.08194	GTC	CACNA1E	-	NULL	ENSG00000198216		0.627	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	CACNA1E	HGNC	protein_coding	OTTHUMT00000090793.2	-	0.00	35	0	G	NM_000721		181767512	+1	tier1	-	no_errors	ENST00000367573	ensembl	human	known	74_37	missense	34.15	27	14	SNP	0.914	A
CACNA1I	8911	genome.wustl.edu	37	22	40036989	40036989	+	Silent	SNP	C	C	A			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr22:40036989C>A	ENST00000402142.3	+	6	858	c.858C>A	c.(856-858)ctC>ctA	p.L286L	CACNA1I_ENST00000407673.1_Silent_p.L286L|CACNA1I_ENST00000404898.1_Silent_p.L286L|CACNA1I_ENST00000336649.4_Silent_p.L286L|CACNA1I_ENST00000401624.1_Silent_p.L286L|CACNA1I_ENST00000400164.3_Silent_p.L286L	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	286					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	TCCCCCCGCTCAAGGAGCAGG	0.622																																																	0													52.0	58.0	56.0					22																	40036989		2068	4202	6270	SO:0001819	synonymous_variant	0			AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.858C>A	22.37:g.40036989C>A			B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Silent	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1	p.L286	ENST00000402142.3	37	c.858	CCDS46710.1	22																																																																																			CACNA1I	-	pfam_Ion_trans_dom	ENSG00000100346		0.622	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	CACNA1I	HGNC	protein_coding	OTTHUMT00000321290.1		0.00	47	0	C	NM_001003406		40036989	+1			no_errors	ENST00000336649	ensembl	human	known	74_37	silent	5.00	38	2	SNP	0.998	A
CADPS	8618	genome.wustl.edu	37	3	62385092	62385092	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr3:62385092C>A	ENST00000383710.4	-	30	4400	c.4051G>T	c.(4051-4053)Gaa>Taa	p.E1351*	CADPS_ENST00000357948.3_Nonsense_Mutation_p.E1272*|CADPS_ENST00000283269.9_Nonsense_Mutation_p.E1312*	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	1351	Mediates targeting and association with DCVs. {ECO:0000250}.				catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		TAATCGTCTTCTTCGTCTTCC	0.498																																																	0													199.0	176.0	184.0					3																	62385092		2203	4300	6503	SO:0001587	stop_gained	0			U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.4051G>T	3.37:g.62385092C>A	ENSP00000373215:p.Glu1351*		A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Nonsense_Mutation	SNP	pfam_Ca-dep_secretion_activator,superfamily_C2_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.E1351*	ENST00000383710.4	37	c.4051	CCDS46858.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	44|44	10.935883|10.935883	0.99491|0.99491	.|.	.|.	ENSG00000163618|ENSG00000163618	ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269|ENST00000473635	.|.	.|.	.|.	5.86|5.86	5.86|5.86	0.93980|0.93980	.|.	0.057703|.	0.64402|.	D|.	0.000002|.	.|T	.|0.76962	.|0.4061	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74219	.|-0.3736	.|4	0.54805|.	T|.	0.06|.	.|.	20.2019|20.2019	0.98263|0.98263	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|N	1357;1351;1272;1312|342	.|.	ENSP00000283269:E1312X|.	E|K	-|-	1|3	0|2	CADPS|CADPS	62360132|62360132	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.834000|0.834000	0.47266|0.47266	5.712000|5.712000	0.68407|0.68407	2.776000|2.776000	0.95493|0.95493	0.655000|0.655000	0.94253|0.94253	GAA|AAG	CADPS	-	NULL	ENSG00000163618		0.498	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	CADPS	HGNC	protein_coding	OTTHUMT00000351951.5	-	0.00	45	0	C	NM_003716, NM_183393, NM_183394		62385092	-1	tier1	-	no_errors	ENST00000383710	ensembl	human	known	74_37	nonsense	5.26	72	4	SNP	1.000	A
CCDC171	203238	genome.wustl.edu	37	9	15920397	15920397	+	Missense_Mutation	SNP	C	C	T	rs200767961		TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr9:15920397C>T	ENST00000380701.3	+	25	4058	c.3730C>T	c.(3730-3732)Cgt>Tgt	p.R1244C	CCDC171_ENST00000486641.2_3'UTR	NM_173550.2	NP_775821.2	Q6TFL3	CC171_HUMAN	coiled-coil domain containing 171	1244																	AGCTTGTTTACGTGAAAATGC	0.333																																																	0													131.0	110.0	117.0					9																	15920397		2203	4299	6502	SO:0001583	missense	0			AY422473	CCDS6481.1	9p22.2	2012-03-26	2012-03-26	2012-03-26	ENSG00000164989	ENSG00000164989			29828	protein-coding gene	gene with protein product	"""myosin tail domain containing protein"""		"""chromosome 9 open reading frame 93"""	C9orf93		14702039	Standard	NM_173550		Approved	FLJ39267, FLJ46740, Em:AL513423.1, bA778P13.1, bA536D16.1	uc003zmd.3	Q6TFL3	OTTHUMG00000019584	ENST00000380701.3:c.3730C>T	9.37:g.15920397C>T	ENSP00000370077:p.Arg1244Cys		B7ZM22|Q5SU58|Q6P1W1|Q6ZR13|Q8N1Z4|Q8N8L3|Q8TBR2	Missense_Mutation	SNP	superfamily_STAT_TF_coiled-coil	p.R1244C	ENST00000380701.3	37	c.3730	CCDS6481.1	9	.	.	.	.	.	.	.	.	.	.	C	18.66	3.672046	0.67928	.	.	ENSG00000164989	ENST00000380701;ENST00000359391	T	0.43688	0.94	5.57	4.65	0.58169	.	0.158171	0.37219	N	0.002198	T	0.51618	0.1685	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74674	0.984;0.977	T	0.55711	-0.8098	10	0.87932	D	0	-0.9212	13.6954	0.62575	0.1594:0.8406:0.0:0.0	.	1252;1244	B7ZM22;Q6TFL3	.;CI093_HUMAN	C	1244;98	ENSP00000370077:R1244C	ENSP00000352352:R98C	R	+	1	0	C9orf93	15910397	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.959000	0.49153	1.291000	0.44653	0.557000	0.71058	CGT	CCDC171	-	NULL	ENSG00000164989		0.333	CCDC171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC171	HGNC	protein_coding	OTTHUMT00000051768.4	-	0.00	56	0	C	NM_173550		15920397	+1	tier1	rs200767961	no_errors	ENST00000380701	ensembl	human	known	74_37	missense	48.28	30	28	SNP	1.000	T
CCDC30	728621	genome.wustl.edu	37	1	42986899	42986899	+	Intron	SNP	C	C	G			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr1:42986899C>G	ENST00000428554.2	+	8	1033				CCDC30_ENST00000507855.1_Missense_Mutation_p.P5R			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30							extracellular vesicular exosome (GO:0070062)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						atccacccgcctcggcctccc	0.433																																																	0																																										SO:0001627	intron_variant	0			AY639646	CCDS30690.1	1p34.2	2009-07-09			ENSG00000186409	ENSG00000186409			26103	protein-coding gene	gene with protein product	"""prefoldin 6-like"""					16710767	Standard	NM_001080850		Approved	FLJ20972, PFD6L, LOC728621	uc009vwk.1	Q5VVM6	OTTHUMG00000007334	ENST00000428554.2:c.-110-13661C>G	1.37:g.42986899C>G			Q14F06|Q5VVM5	Missense_Mutation	SNP	NULL	p.P5R	ENST00000428554.2	37	c.14	CCDS30690.1	1	.	.	.	.	.	.	.	.	.	.	C	0.179	-1.063594	0.01934	.	.	ENSG00000186409	ENST00000507855	T	0.46819	0.86	.	.	.	.	.	.	.	.	T	0.43743	0.1261	.	.	.	0.19300	N	0.999976	.	.	.	.	.	.	T	0.42982	-0.9419	4	0.87932	D	0	.	.	.	.	.	5	Q5VVM6-2	.	R	5	ENSP00000426711:P5R	ENSP00000426711:P5R	P	+	2	0	CCDC30	42759486	0.037000	0.19845	0.355000	0.25773	0.357000	0.29423	0.178000	0.16820	0.119000	0.18210	0.121000	0.15741	CCT	CCDC30	-	NULL	ENSG00000186409		0.433	CCDC30-203	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC30	HGNC	protein_coding		-	0.00	14	0	C	NM_025030		42986899	+1	tier1	-	no_errors	ENST00000507855	ensembl	human	putative	74_37	missense	48.00	13	12	SNP	0.366	G
CCDC73	493860	genome.wustl.edu	37	11	32697568	32697568	+	Splice_Site	SNP	C	C	A			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr11:32697568C>A	ENST00000335185.5	-	8	473		c.e8-1		CCDC73_ENST00000534415.1_Splice_Site	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73											NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					CCTTTTGTTCCTATTTTGAAG	0.318																																																	0													112.0	105.0	107.0					11																	32697568		1855	4084	5939	SO:0001630	splice_region_variant	0			AK128159	CCDS41630.1	11p13	2006-02-11			ENSG00000186714	ENSG00000186714			23261	protein-coding gene	gene with protein product		612328					Standard	NM_001008391		Approved	NY-SAR-79	uc001mtv.4	Q6ZRK6	OTTHUMG00000166279	ENST00000335185.5:c.430-1G>T	11.37:g.32697568C>A			Q6P5Q7|Q6ZMW0|Q86WE7	Splice_Site	SNP	-	e7-1	ENST00000335185.5	37	c.430-1	CCDS41630.1	11	.	.	.	.	.	.	.	.	.	.	C	18.84	3.709531	0.68730	.	.	ENSG00000186714	ENST00000335185	.	.	.	5.89	5.89	0.94794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2508	0.98407	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CCDC73	32654144	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	5.677000	0.68142	2.788000	0.95919	0.585000	0.79938	.	CCDC73	-	-	ENSG00000186714		0.318	CCDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC73	HGNC	protein_coding	OTTHUMT00000388874.2		0.00	32	0	C	NM_001008391	Intron	32697568	-1			no_errors	ENST00000335185	ensembl	human	known	74_37	splice_site	6.00	47	3	SNP	1.000	A
CCNB3	85417	genome.wustl.edu	37	X	50052652	50052652	+	Missense_Mutation	SNP	C	C	T			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chrX:50052652C>T	ENST00000376042.1	+	6	1781	c.1483C>T	c.(1483-1485)Cat>Tat	p.H495Y	CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.H495Y|CCNB3_ENST00000376038.1_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	495					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					AAAGAGGAAGCATGCCACTCA	0.443																																																	0													42.0	41.0	42.0					X																	50052652		2203	4300	6503	SO:0001583	missense	0			AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.1483C>T	X.37:g.50052652C>T	ENSP00000365210:p.His495Tyr		B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Missense_Mutation	SNP	pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like	p.H495Y	ENST00000376042.1	37	c.1483	CCDS14331.1	X	.	.	.	.	.	.	.	.	.	.	C	8.304	0.820590	0.16678	.	.	ENSG00000147082	ENST00000376042;ENST00000276014	T;T	0.18174	2.23;2.23	3.17	-1.37	0.09056	.	4.257570	0.01082	U	0.005017	T	0.06781	0.0173	N	0.08118	0	0.09310	N	1	B	0.31256	0.316	B	0.23275	0.045	T	0.10451	-1.0629	9	.	.	.	.	0.2579	0.00214	0.2043:0.2806:0.2008:0.3144	.	495	Q8WWL7	CCNB3_HUMAN	Y	495	ENSP00000365210:H495Y;ENSP00000276014:H495Y	.	H	+	1	0	CCNB3	50069392	0.000000	0.05858	0.000000	0.03702	0.061000	0.15899	0.324000	0.19610	-0.447000	0.07138	0.509000	0.49947	CAT	CCNB3	-	NULL	ENSG00000147082		0.443	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNB3	HGNC	protein_coding	OTTHUMT00000056558.1		0.00	36	0	C			50052652	+1			no_errors	ENST00000276014	ensembl	human	known	74_37	missense	11.76	29	4	SNP	0.000	T
CD40LG	959	genome.wustl.edu	37	X	135738537	135738537	+	Silent	SNP	G	G	A	rs148581967		TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chrX:135738537G>A	ENST00000370629.2	+	4	425	c.369G>A	c.(367-369)gcG>gcA	p.A123A	CD40LG_ENST00000370628.2_Intron	NM_000074.2	NP_000065.1	P29965	CD40L_HUMAN	CD40 ligand	123			A -> E (in HIGM1). {ECO:0000269|PubMed:8094231}.		B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|immunoglobulin secretion (GO:0048305)|inflammatory response (GO:0006954)|isotype switching (GO:0045190)|leukocyte cell-cell adhesion (GO:0007159)|negative regulation of apoptotic process (GO:0043066)|platelet activation (GO:0030168)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of interleukin-12 production (GO:0032735)|regulation of immune response (GO:0050776)|regulation of immunoglobulin secretion (GO:0051023)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	CD40 receptor binding (GO:0005174)			endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|skin(1)|stomach(1)	26	Acute lymphoblastic leukemia(192;0.000127)					CTCAAATTGCGGCACATGTCA	0.463									Immune Deficiency with Hyper-IgM																																								0								G		1,3834		0,1,1631,571	170.0	143.0	152.0		369	-7.4	0.6	X	dbSNP_134	152	0,6728		0,0,2428,1872	no	coding-synonymous	CD40LG	NM_000074.2		0,1,4059,2443	AA,AG,GG,G		0.0,0.0261,0.0095		123/262	135738537	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	Hypogammaglobulinemia with Hyper-IgM, HIGM type I-V, XLHIGM	X67878	CCDS14659.1	Xq26	2014-09-17	2008-08-01	2005-01-14	ENSG00000102245	ENSG00000102245		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"", ""Endogenous ligands"""	11935	protein-coding gene	gene with protein product	"""CD40 antigen ligand"", ""tumor necrosis factor (ligand) superfamily member 5"", ""T-B cell-activating molecule"", ""TNF-related activation protein"", ""hyper-IgM syndrome"""	300386	"""tumor necrosis factor (ligand) superfamily, member 5 (hyper-IgM syndrome)"""	HIGM1, IMD3, TNFSF5		1427881, 7678782	Standard	NM_000074		Approved	CD40L, TRAP, gp39, hCD40L, CD154	uc004faa.3	P29965	OTTHUMG00000022512	ENST00000370629.2:c.369G>A	X.37:g.135738537G>A				Silent	SNP	pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pirsf_TNF_ligand_5,pfscan_TNF_dom,prints_TNF_ligand_5	p.A123	ENST00000370629.2	37	c.369	CCDS14659.1	X																																																																																			CD40LG	-	superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pirsf_TNF_ligand_5,pfscan_TNF_dom	ENSG00000102245		0.463	CD40LG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD40LG	HGNC	protein_coding	OTTHUMT00000058501.1	-	0.00	25	0	G	NM_000074		135738537	+1	tier1	rs148581967	no_errors	ENST00000370629	ensembl	human	known	74_37	silent	27.08	35	13	SNP	0.697	A
CDC25B	994	genome.wustl.edu	37	20	3782599	3782599	+	Missense_Mutation	SNP	G	G	A			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr20:3782599G>A	ENST00000245960.5	+	10	1647	c.950G>A	c.(949-951)cGg>cAg	p.R317Q	CDC25B_ENST00000439880.2_Missense_Mutation_p.R303Q|CDC25B_ENST00000344256.6_Missense_Mutation_p.R253Q|CDC25B_ENST00000379598.5_Missense_Mutation_p.R226Q|CDC25B_ENST00000340833.4_Missense_Mutation_p.R276Q|CDC25B_ENST00000467519.1_3'UTR	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	P30305	MPIP2_HUMAN	cell division cycle 25B	317					female meiosis I (GO:0007144)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|oocyte maturation (GO:0001556)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein kinase activity (GO:0045860)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						AAGTGCCAGCGGCTCTTCCGC	0.642																																																	0													27.0	25.0	26.0					20																	3782599		2203	4300	6503	SO:0001583	missense	0				CCDS13065.1, CCDS13066.1, CCDS13067.1, CCDS74700.1, CCDS74701.1	20p13	2013-01-17	2013-01-17		ENSG00000101224	ENSG00000101224		"""Protein tyrosine phosphatases / Class III Cys-based PTPs"""	1726	protein-coding gene	gene with protein product		116949	"""cell division cycle 25B"", ""cell division cycle 25 homolog B (S. cerevisiae)"", ""cell division cycle 25 homolog B (S. pombe)"""			1836978	Standard	NM_021873		Approved		uc002wjn.3	P30305	OTTHUMG00000031764	ENST00000245960.5:c.950G>A	20.37:g.3782599G>A	ENSP00000245960:p.Arg317Gln		D3DVY1|D3DVY2|D3DVY3|D3DVY4|O43551|Q13971|Q5JX77|Q6RSS1|Q9BRA6	Missense_Mutation	SNP	pfam_MPI_Phosphatase,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom,prints_MPI_Phosphatase	p.R317Q	ENST00000245960.5	37	c.950	CCDS13067.1	20	.	.	.	.	.	.	.	.	.	.	G	19.95	3.921611	0.73213	.	.	ENSG00000101224	ENST00000344256;ENST00000379598;ENST00000245960;ENST00000439880;ENST00000340833	T;T;T;T;T	0.26957	1.7;1.7;1.7;1.7;1.7	4.22	4.22	0.49857	.	0.194372	0.43747	D	0.000536	T	0.27629	0.0679	L	0.58810	1.83	0.43430	D	0.995593	P;P;P;P;P;D	0.54772	0.889;0.889;0.889;0.865;0.865;0.968	B;B;B;B;B;B	0.42959	0.204;0.204;0.204;0.129;0.129;0.403	T	0.06972	-1.0797	10	0.30854	T	0.27	-18.5498	14.8795	0.70522	0.0:0.0:1.0:0.0	.	226;239;253;276;303;317	B4DQZ3;B4DRC3;B4DIG0;P30305-3;P30305-2;P30305	.;.;.;.;.;MPIP2_HUMAN	Q	253;226;317;303;276	ENSP00000339125:R253Q;ENSP00000368918:R226Q;ENSP00000245960:R317Q;ENSP00000405972:R303Q;ENSP00000339170:R276Q	ENSP00000245960:R317Q	R	+	2	0	CDC25B	3730599	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.474000	0.35398	2.288000	0.76882	0.591000	0.81541	CGG	CDC25B	-	pfam_MPI_Phosphatase	ENSG00000101224		0.642	CDC25B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC25B	HGNC	protein_coding	OTTHUMT00000077779.2	-	0.00	54	0	G	NM_021874		3782599	+1	tier1	-	no_errors	ENST00000245960	ensembl	human	known	74_37	missense	12.28	50	7	SNP	1.000	A
CDH11	1009	genome.wustl.edu	37	16	64984684	64984684	+	Missense_Mutation	SNP	A	A	T			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr16:64984684A>T	ENST00000268603.4	-	12	2495	c.1880T>A	c.(1879-1881)aTc>aAc	p.I627N	CDH11_ENST00000394156.3_Missense_Mutation_p.I627N|CDH11_ENST00000566827.1_Missense_Mutation_p.I501N	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	627					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		GAGAATGACGATGCAGGCGAG	0.622			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																														Dom	yes		16	16q22.1	1009	"""cadherin 11, type 2, OB-cadherin (osteoblast)"""		M	0													55.0	43.0	47.0					16																	64984684		2203	4300	6503	SO:0001583	missense	0			D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"""Cadherins / Major cadherins"""	1750	protein-coding gene	gene with protein product	"""OB-Cadherin"""	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.1880T>A	16.37:g.64984684A>T	ENSP00000268603:p.Ile627Asn		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.I627N	ENST00000268603.4	37	c.1880	CCDS10803.1	16	.	.	.	.	.	.	.	.	.	.	A	20.8	4.052697	0.75960	.	.	ENSG00000140937	ENST00000268603;ENST00000394156;ENST00000538390	T;T	0.61158	0.29;0.13	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.80303	0.4598	M	0.91972	3.26	0.80722	D	1	D;P	0.71674	0.998;0.551	D;B	0.67548	0.952;0.168	D	0.85024	0.0913	10	0.87932	D	0	.	15.3511	0.74389	1.0:0.0:0.0:0.0	.	627;627	P55287-2;P55287	.;CAD11_HUMAN	N	627;627;610	ENSP00000268603:I627N;ENSP00000377711:I627N	ENSP00000268603:I627N	I	-	2	0	CDH11	63542185	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.339000	0.96797	2.217000	0.71921	0.533000	0.62120	ATC	CDH11	-	NULL	ENSG00000140937		0.622	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH11	HGNC	protein_coding	OTTHUMT00000268755.1	-	0.00	51	0	A	NM_033664		64984684	-1	tier1	-	no_errors	ENST00000268603	ensembl	human	known	74_37	missense	23.08	40	12	SNP	1.000	T
CEACAM18	729767	genome.wustl.edu	37	19	51983717	51983717	+	Missense_Mutation	SNP	G	G	T			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr19:51983717G>T	ENST00000396477.4	+	2	204	c.183G>T	c.(181-183)tgG>tgT	p.W61C	CEACAM18_ENST00000451626.1_Missense_Mutation_p.W122C	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	61										breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		AATACAGCTGGTACTGGGGTG	0.562																																																	0													59.0	59.0	59.0					19																	51983717		2028	4187	6215	SO:0001583	missense	0					19q13.41	2013-01-29				ENSG00000213822		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	31949	protein-coding gene	gene with protein product							Standard	NM_001278392		Approved		uc002pwv.1	A8MTB9		ENST00000396477.4:c.183G>T	19.37:g.51983717G>T	ENSP00000379738:p.Trp61Cys		C9JN24	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.W122C	ENST00000396477.4	37	c.366		19	.	.	.	.	.	.	.	.	.	.	.	12.78	2.040603	0.35989	.	.	ENSG00000213822	ENST00000451626;ENST00000451086;ENST00000396477	T	0.54675	0.56	2.79	1.75	0.24633	Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.73305	0.3570	M	0.92555	3.32	0.45762	D	0.998652	D	0.89917	1.0	D	0.97110	1.0	T	0.72975	-0.4128	9	0.87932	D	0	-7.5655	5.7364	0.18069	0.1525:0.0:0.8475:0.0	.	122	A8MTB9	CEA18_HUMAN	C	122;61;61	ENSP00000402203:W122C	ENSP00000379738:W61C	W	+	3	0	CEACAM18	56675529	0.637000	0.27216	0.936000	0.37596	0.036000	0.12997	1.507000	0.35758	0.788000	0.33755	-0.141000	0.14075	TGG	CEACAM18	-	pfam_Ig_V-set,smart_Ig_sub	ENSG00000213822		0.562	CEACAM18-001	PUTATIVE	not_organism_supported|basic|appris_candidate	protein_coding	CEACAM18	HGNC	protein_coding	OTTHUMT00000323114.2	-	0.00	75	0	G			51983717	+1	tier1	-	no_errors	ENST00000451626	ensembl	human	known	74_37	missense	6.06	62	4	SNP	0.920	T
CEBPE	1053	genome.wustl.edu	37	14	23586975	23586975	+	Silent	SNP	C	C	T	rs373251741		TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr14:23586975C>T	ENST00000206513.5	-	2	1091	c.567G>A	c.(565-567)ccG>ccA	p.P189P		NM_001805.3	NP_001796.2	Q15744	CEBPE_HUMAN	CCAAT/enhancer binding protein (C/EBP), epsilon	189					cellular response to lipopolysaccharide (GO:0071222)|cytokine biosynthetic process (GO:0042089)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|macrophage differentiation (GO:0030225)|phagocytosis (GO:0006909)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.0064)		AGGGGCCAGCCGGGGAGGGCG	0.662													C|||	1	0.000199681	0.0	0.0	5008	,	,		15965	0.0		0.0	False		,,,				2504	0.001				NSCLC(63;1230 1818 14565 22565)												0								C		1,4403		0,1,2201	42.0	47.0	45.0		567	-10.4	0.0	14		45	0,8590		0,0,4295	no	coding-synonymous	CEBPE	NM_001805.2		0,1,6496	TT,TC,CC		0.0,0.0227,0.0077		189/282	23586975	1,12993	2202	4295	6497	SO:0001819	synonymous_variant	0				CCDS9589.1	14q11.2	2014-09-17			ENSG00000092067	ENSG00000092067		"""basic leucine zipper proteins"""	1836	protein-coding gene	gene with protein product		600749				8661101	Standard	NM_001805		Approved	CRP1	uc001wiv.2	Q15744	OTTHUMG00000028719	ENST00000206513.5:c.567G>A	14.37:g.23586975C>T			Q15745|Q8IYI2|Q99803	Silent	SNP	pfam_bZIP,smart_bZIP,pirsf_CCAAT/enhancer-binding,pfscan_bZIP	p.P189	ENST00000206513.5	37	c.567	CCDS9589.1	14																																																																																			CEBPE	-	pirsf_CCAAT/enhancer-binding	ENSG00000092067		0.662	CEBPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEBPE	HGNC	protein_coding	OTTHUMT00000071716.2	-	0.00	58	0	C	NM_001805		23586975	-1	tier1	-	no_errors	ENST00000206513	ensembl	human	known	74_37	silent	30.77	36	16	SNP	0.004	T
CELSR1	9620	genome.wustl.edu	37	22	46805032	46805032	+	Missense_Mutation	SNP	C	C	T			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr22:46805032C>T	ENST00000262738.3	-	9	5086	c.5087G>A	c.(5086-5088)gGt>gAt	p.G1696D		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1696	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GACGCTCTCACCGCTGAAGAG	0.637																																																	0													81.0	73.0	76.0					22																	46805032		2203	4300	6503	SO:0001583	missense	0			AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.5087G>A	22.37:g.46805032C>T	ENSP00000262738:p.Gly1696Asp		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.G1696D	ENST00000262738.3	37	c.5087	CCDS14076.1	22	.	.	.	.	.	.	.	.	.	.	C	16.53	3.147826	0.57151	.	.	ENSG00000075275	ENST00000262738	T	0.74526	-0.85	4.71	4.71	0.59529	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.000000	0.64402	U	0.000001	D	0.86058	0.5842	M	0.78223	2.4	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.994	D	0.86492	0.1798	10	0.42905	T	0.14	.	17.257	0.87060	0.0:1.0:0.0:0.0	.	9;1696	B7Z7U7;Q9NYQ6	.;CELR1_HUMAN	D	1696	ENSP00000262738:G1696D	ENSP00000262738:G1696D	G	-	2	0	CELSR1	45183696	0.993000	0.37304	0.670000	0.29842	0.257000	0.26127	3.535000	0.53575	2.162000	0.67917	0.561000	0.74099	GGT	CELSR1	-	superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G	ENSG00000075275		0.637	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR1	HGNC	protein_coding	OTTHUMT00000318037.1	-	0.00	57	0	C	NM_014246		46805032	-1	tier1	-	no_errors	ENST00000262738	ensembl	human	known	74_37	missense	34.15	25	14	SNP	0.994	T
CHRNB2	1141	genome.wustl.edu	37	1	154544295	154544295	+	Silent	SNP	G	G	A			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr1:154544295G>A	ENST00000368476.3	+	5	1260	c.996G>A	c.(994-996)gcG>gcA	p.A332A		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	332					action potential (GO:0001508)|associative learning (GO:0008306)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|central nervous system projection neuron axonogenesis (GO:0021952)|cognition (GO:0050890)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|lateral geniculate nucleus development (GO:0021771)|learning (GO:0007612)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|neurological system process (GO:0050877)|optic nerve morphogenesis (GO:0021631)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|protein heterooligomerization (GO:0051291)|regulation of circadian sleep/wake cycle, non-REM sleep (GO:0045188)|regulation of circadian sleep/wake cycle, REM sleep (GO:0042320)|regulation of dendrite morphogenesis (GO:0048814)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine secretion (GO:0014059)|regulation of synapse assembly (GO:0051963)|regulation of synaptic transmission, dopaminergic (GO:0032225)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|sensory perception of pain (GO:0019233)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)|vestibulocochlear nerve development (GO:0021562)|visual learning (GO:0008542)|visual perception (GO:0007601)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|drug binding (GO:0008144)|ligand-gated ion channel activity (GO:0015276)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Dextromethorphan(DB00514)|Galantamine(DB00674)|Nicotine(DB00184)	ACACCATGGCGCCCTGGGTGA	0.642																																																	0													71.0	51.0	58.0					1																	154544295		2203	4300	6503	SO:0001819	synonymous_variant	0			U62437	CCDS1070.1	1q21.3	2012-02-11	2006-02-01		ENSG00000160716	ENSG00000160716		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1962	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 2 (neuronal)"""	118507	"""cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal)"""			1505988	Standard	NM_000748		Approved		uc001ffg.3	P17787	OTTHUMG00000037262	ENST00000368476.3:c.996G>A	1.37:g.154544295G>A			Q9UEH9	Silent	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.A332	ENST00000368476.3	37	c.996	CCDS1070.1	1																																																																																			CHRNB2	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel	ENSG00000160716		0.642	CHRNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNB2	HGNC	protein_coding	OTTHUMT00000090697.1	-	0.00	13	0	G	NM_000748		154544295	+1	tier1	-	no_errors	ENST00000368476	ensembl	human	known	74_37	silent	19.35	25	6	SNP	0.543	A
CHRM3	1131	genome.wustl.edu	37	1	240072260	240072260	+	Silent	SNP	T	T	G	rs202061144		TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr1:240072260T>G	ENST00000255380.4	+	5	2288	c.1509T>G	c.(1507-1509)acT>acG	p.T503T		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	503					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of insulin secretion (GO:0050796)|regulation of vascular smooth muscle contraction (GO:0003056)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|smooth muscle contraction (GO:0006939)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)|receptor activity (GO:0004872)			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Fesoterodine(DB06702)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methacholine(DB06709)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tramadol(DB00193)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	TCATCATCACTTGGACCCCAT	0.493																																																	0													157.0	138.0	145.0					1																	240072260		2203	4300	6503	SO:0001819	synonymous_variant	0			U29589	CCDS1616.1	1q43	2012-09-20			ENSG00000133019	ENSG00000133019		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1952	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 3"""	118494					Standard	XM_005273032		Approved		uc001hyp.3	P20309	OTTHUMG00000039649	ENST00000255380.4:c.1509T>G	1.37:g.240072260T>G			Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M3_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn	p.T503	ENST00000255380.4	37	c.1509	CCDS1616.1	1																																																																																			CHRM3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000133019		0.493	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRM3	HGNC	protein_coding	OTTHUMT00000095644.2	-	0.00	38	0	T	NM_000740		240072260	+1	tier1	-	no_errors	ENST00000255380	ensembl	human	known	74_37	silent	16.36	46	9	SNP	0.959	G
CNGB3	54714	genome.wustl.edu	37	8	87641284	87641284	+	Missense_Mutation	SNP	G	G	T			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr8:87641284G>T	ENST00000320005.5	-	12	1390	c.1343C>A	c.(1342-1344)gCt>gAt	p.A448D		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	448					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						ATTGGCTGTAGCTGCTCCAAT	0.428																																																	0													208.0	195.0	200.0					8																	87641284		2203	4300	6503	SO:0001583	missense	0			AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2153	protein-coding gene	gene with protein product		605080	"""achromatopsia (rod monochromacy) 3"", ""achromatopsia (rod monochromacy) 1"""	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.1343C>A	8.37:g.87641284G>T	ENSP00000316605:p.Ala448Asp		C9JA51|Q9NRE9	Missense_Mutation	SNP	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.A448D	ENST00000320005.5	37	c.1343	CCDS6244.1	8	.	.	.	.	.	.	.	.	.	.	G	34	5.331802	0.95733	.	.	ENSG00000170289	ENST00000320005	D	0.97256	-4.31	6.03	6.03	0.97812	.	0.119732	0.56097	D	0.000038	D	0.98830	0.9605	M	0.90252	3.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	D	0.99107	1.0845	10	0.72032	D	0.01	.	20.5596	0.99324	0.0:0.0:1.0:0.0	.	448;448	Q9NQW8-2;Q9NQW8	.;CNGB3_HUMAN	D	448	ENSP00000316605:A448D	ENSP00000316605:A448D	A	-	2	0	CNGB3	87710400	1.000000	0.71417	0.954000	0.39281	0.920000	0.55202	9.869000	0.99810	2.868000	0.98415	0.555000	0.69702	GCT	CNGB3	-	NULL	ENSG00000170289		0.428	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNGB3	HGNC	protein_coding	OTTHUMT00000375107.1	-	0.00	37	0	G	NM_019098		87641284	-1	tier1	-	no_errors	ENST00000320005	ensembl	human	known	74_37	missense	5.26	71	4	SNP	1.000	T
CNBD1	168975	genome.wustl.edu	37	8	88365898	88365898	+	Missense_Mutation	SNP	T	T	G			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr8:88365898T>G	ENST00000518476.1	+	10	1238	c.1187T>G	c.(1186-1188)cTt>cGt	p.L396R		NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	396								p.L396R(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						ATGGGGAAACTTAAGGAGAAG	0.323																																																	1	Substitution - Missense(1)	large_intestine(1)											84.0	81.0	82.0					8																	88365898		1814	4073	5887	SO:0001583	missense	0			AK093121	CCDS55259.1	8q21.3	2005-08-09				ENSG00000176571			26663	protein-coding gene	gene with protein product							Standard	NM_173538		Approved	FLJ35802	uc003ydy.2	Q8NA66		ENST00000518476.1:c.1187T>G	8.37:g.88365898T>G	ENSP00000430073:p.Leu396Arg			Missense_Mutation	SNP	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	p.L396R	ENST00000518476.1	37	c.1187	CCDS55259.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.20|12.20	1.865846|1.865846	0.32977|0.32977	.|.	.|.	ENSG00000176571|ENSG00000176571	ENST00000518476|ENST00000523299;ENST00000521593	D|D;D	0.94966|0.94046	-3.57|-3.34;-3.34	4.98|4.98	4.98|4.98	0.66077|0.66077	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);|.	0.000000|0.000000	0.42964|0.42964	D|D	0.000627|0.000627	D|D	0.93884|0.93884	0.8043|0.8043	M|M	0.66939|0.66939	2.045|2.045	0.09310|0.09310	N|N	0.999992|0.999992	D|.	0.89917|.	1.0|.	D|.	0.75020|.	0.985|.	D|D	0.89347|0.89347	0.3658|0.3658	10|8	0.87932|0.72032	D|D	0|0.01	-15.9692|-15.9692	11.1056|11.1056	0.48201|0.48201	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	396|.	Q8NA66|.	CNBD1_HUMAN|.	R|V	396|88;33	ENSP00000430073:L396R|ENSP00000430986:L88V;ENSP00000427742:L33V	ENSP00000430073:L396R|ENSP00000427742:L33V	L|L	+|+	2|1	0|2	CNBD1|CNBD1	88435014|88435014	0.353000|0.353000	0.24904|0.24904	0.063000|0.063000	0.19743|0.19743	0.162000|0.162000	0.22319|0.22319	3.947000|3.947000	0.56652|0.56652	1.880000|1.880000	0.54463|0.54463	0.454000|0.454000	0.30748|0.30748	CTT|TTA	CNBD1	-	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	ENSG00000176571		0.323	CNBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNBD1	HGNC	protein_coding	OTTHUMT00000375113.2	-	0.00	97	0	T	NM_173538		88365898	+1	tier1	-	no_errors	ENST00000518476	ensembl	human	known	74_37	missense	32.33	90	43	SNP	0.229	G
CNPY4	245812	genome.wustl.edu	37	7	99722420	99722422	+	In_Frame_Del	DEL	AGG	AGG	-	rs373606882|rs141457365	byFrequency	TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	AGG	AGG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr7:99722420_99722422delAGG	ENST00000262932.3	+	6	788_790	c.656_658delAGG	c.(655-660)caggag>cag	p.E229del	CNPY4_ENST00000480692.1_3'UTR|RP11-506M12.1_ENST00000494221.1_RNA|MBLAC1_ENST00000398075.2_5'Flank	NM_152755.1	NP_689968.1	Q8N129	CNPY4_HUMAN	canopy FGF signaling regulator 4	229	Glu-rich.					extracellular region (GO:0005576)				breast(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					gaggaagagcaggaggaggagga	0.493																																																	0																																										SO:0001651	inframe_deletion	0			AK075537	CCDS34701.1	7q22.1	2013-07-23	2013-07-23		ENSG00000166997	ENSG00000166997			28631	protein-coding gene	gene with protein product	"""protein associated with TLR4"""	610047	"""canopy 4 homolog (zebrafish)"""			12975309	Standard	NM_152755		Approved	MGC40499, PRAT4B	uc003uto.3	Q8N129	OTTHUMG00000154817	ENST00000262932.3:c.656_658delAGG	7.37:g.99722429_99722431delAGG	ENSP00000262932:p.Glu229del		Q8WUN9	In_Frame_Del	DEL	pfam_DUF3456	p.E223in_frame_del	ENST00000262932.3	37	c.656_658	CCDS34701.1	7																																																																																			CNPY4	-	NULL	ENSG00000166997		0.493	CNPY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNPY4	HGNC	protein_coding	OTTHUMT00000337224.4		0.00	38	0	AGG	NM_152755		99722422	+1	tier1		no_errors	ENST00000262932	ensembl	human	known	74_37	in_frame_del	10.26	35	4	DEL	0.045:0.040:0.133	-
COL18A1	80781	genome.wustl.edu	37	21	46902721	46902721	+	Missense_Mutation	SNP	G	G	A	rs201476017	byFrequency	TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr21:46902721G>A	ENST00000359759.4	+	14	2953	c.2932G>A	c.(2932-2934)Gcc>Acc	p.A978T	COL18A1_ENST00000400337.2_Missense_Mutation_p.A563T|COL18A1_ENST00000355480.5_Missense_Mutation_p.A743T			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	978	Triple-helical region 3 (COL3).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		TGAAGCAGGCGCCCCAGGACA	0.592													G|||	2	0.000399361	0.0	0.0	5008	,	,		18322	0.0		0.001	False		,,,				2504	0.001																0								G	THR/ALA,THR/ALA	0,4088		0,0,2044	121.0	128.0	126.0		2227,1687	-1.6	0.1	21		126	6,8364		0,6,4179	yes	missense,missense	COL18A1	NM_030582.3,NM_130445.2	58,58	0,6,6223	AA,AG,GG		0.0717,0.0,0.0482	probably-damaging,probably-damaging	743/1520,563/1340	46902721	6,12452	2044	4185	6229	SO:0001583	missense	0				CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"""Collagens"""	2195	protein-coding gene	gene with protein product	"""endostatin"""	120328	"""Knobloch syndrome, type 1"""	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.2932G>A	21.37:g.46902721G>A	ENSP00000352798:p.Ala978Thr		A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Missense_Mutation	SNP	pfam_Collagenase_NC10/endostatin,pfam_DUF959_COL18_N,pfam_Collagen,pfam_Frizzled_dom,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,superfamily_Frizzled_dom,smart_Frizzled_dom,smart_Laminin_G,pfscan_Frizzled_dom	p.A978T	ENST00000359759.4	37	c.2932		21	.	.	.	.	.	.	.	.	.	.	G	11.05	1.524339	0.27299	0.0	7.17E-4	ENSG00000182871	ENST00000400337;ENST00000355480;ENST00000359759	D;D;D	0.94232	-3.23;-3.38;-3.38	2.62	-1.63	0.08345	.	.	.	.	.	D	0.84483	0.5482	L	0.37850	1.14	0.21386	N	0.999707	B;B;B	0.24576	0.106;0.086;0.086	B;B;B	0.13407	0.009;0.005;0.005	T	0.69007	-0.5259	9	0.12766	T	0.61	.	3.4304	0.07426	0.4039:0.205:0.3911:0.0	.	978;743;563	P39060;P39060-1;P39060-2	COIA1_HUMAN;.;.	T	563;743;978	ENSP00000383191:A563T;ENSP00000347665:A743T;ENSP00000352798:A978T	ENSP00000347665:A743T	A	+	1	0	COL18A1	45727149	0.002000	0.14202	0.122000	0.21767	0.049000	0.14656	0.305000	0.19254	-0.414000	0.07495	0.549000	0.68633	GCC	COL18A1	-	pfam_Collagen	ENSG00000182871		0.592	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	COL18A1	HGNC	protein_coding	OTTHUMT00000206827.1	-	0.00	67	0	G			46902721	+1	tier1	rs201476017	no_errors	ENST00000359759	ensembl	human	known	74_37	missense	45.83	26	22	SNP	0.252	A
COL24A1	255631	genome.wustl.edu	37	1	86430711	86430712	+	Missense_Mutation	DNP	GG	GG	TC			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr1:86430711_86430712GG>TC	ENST00000370571.2	-	23	2863_2864	c.2497_2498CC>GA	c.(2497-2499)CCa>GAa	p.P833E	COL24A1_ENST00000436319.1_Missense_Mutation_p.P833E	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	833	Collagen-like 5.			GYAGEPGPEGLKGEVGDQGNIG -> ITVFATLYSFLTGRS RRSRKYW (in Ref. 5; BAD92923). {ECO:0000305}.	extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TTCTGGTCCTGGTTCACCTGCA	0.312																																																	0																																										SO:0001583	missense	0			AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.2497_2498delinsTC	1.37:g.86430711_86430712delinsTC	ENSP00000359603:p.Pro833Glu		C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C	p.P833Q|p.P833A	ENST00000370571.2	37	c.2498|c.2497	CCDS41353.1	1																																																																																			COL24A1	-	pfam_Collagen	ENSG00000171502		0.312	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL24A1	HGNC	protein_coding	OTTHUMT00000029335.4	-	0.00	64|65	0	G	NM_152890		86430711|86430712	-1	tier1	-	no_errors	ENST00000370571	ensembl	human	known	74_37	missense	16.07	47	9	SNP	1.000	T|C
CPNE8	144402	genome.wustl.edu	37	12	39047419	39047419	+	3'UTR	SNP	T	T	A	rs2730947|rs59710225|rs66915084|rs375756966	byFrequency	TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr12:39047419T>A	ENST00000331366.5	-	0	2056				CPNE8_ENST00000546603.1_5'UTR|CPNE8_ENST00000538596.2_3'UTR	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN	copine VIII							extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				CTGTTTCTGTTAAAAAAAAAA	0.313																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AY177785	CCDS8733.1	12q12	2008-02-05				ENSG00000139117			23498	protein-coding gene	gene with protein product						12670487	Standard	NM_153634		Approved		uc001rls.1	Q86YQ8	OTTHUMG00000169396	ENST00000331366.5:c.*265A>T	12.37:g.39047419T>A			Q2TB41|Q86VY2	RNA	SNP	-	NULL	ENST00000331366.5	37	NULL	CCDS8733.1	12																																																																																			CPNE8	-	-	ENSG00000139117		0.313	CPNE8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPNE8	HGNC	protein_coding	OTTHUMT00000403856.1	-	0.00	35	0	T	NM_153634		39047419	-1	tier1	-	no_errors	ENST00000546603	ensembl	human	known	74_37	rna	11.76	45	6	SNP	0.031	A
CTDSPL2	51496	genome.wustl.edu	37	15	44776523	44776523	+	Missense_Mutation	SNP	G	G	T			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr15:44776523G>T	ENST00000260327.4	+	3	851	c.288G>T	c.(286-288)caG>caT	p.Q96H	CTDSPL2_ENST00000558373.1_Missense_Mutation_p.Q96H|CTDSPL2_ENST00000396780.1_Missense_Mutation_p.Q96H|CTDSPL2_ENST00000558966.1_Missense_Mutation_p.Q96H	NM_016396.2	NP_057480.2	Q05D32	CTSL2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2	96							phosphoprotein phosphatase activity (GO:0004721)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	13		all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905)		CTAACAAACAGATATCTCGAG	0.353																																																	0													111.0	100.0	103.0					15																	44776523		2198	4298	6496	SO:0001583	missense	0			AF161478	CCDS10110.1	15q15.3-q21.1	2010-06-21			ENSG00000137770	ENSG00000137770		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	26936	protein-coding gene	gene with protein product							Standard	NM_016396		Approved	HSPC129, FLJ10523	uc001ztr.3	Q05D32	OTTHUMG00000131159	ENST00000260327.4:c.288G>T	15.37:g.44776523G>T	ENSP00000260327:p.Gln96His		Q3ZTU1|Q6AI06|Q8IYI9|Q9NVT2|Q9NZX8|Q9P030	Missense_Mutation	SNP	pfam_NIF,superfamily_HAD-like_dom,smart_NIF,pfscan_NIF,tigrfam_Dullard_phosphatase	p.Q96H	ENST00000260327.4	37	c.288	CCDS10110.1	15	.	.	.	.	.	.	.	.	.	.	G	15.32	2.799383	0.50208	.	.	ENSG00000137770	ENST00000260327;ENST00000396780	T;T	0.79554	-1.28;-1.28	5.4	5.4	0.78164	.	0.332405	0.32952	N	0.005444	T	0.70491	0.3230	N	0.19112	0.55	0.09310	N	0.999992	P;P	0.45827	0.867;0.511	B;B	0.41764	0.366;0.135	T	0.67337	-0.5696	10	0.46703	T	0.11	-4.5637	15.0632	0.71970	0.0:0.1416:0.8584:0.0	.	96;96	Q05D32-2;Q05D32	.;CTSL2_HUMAN	H	96	ENSP00000260327:Q96H;ENSP00000380000:Q96H	ENSP00000260327:Q96H	Q	+	3	2	CTDSPL2	42563815	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.096000	0.41738	2.681000	0.91329	0.591000	0.81541	CAG	CTDSPL2	-	NULL	ENSG00000137770		0.353	CTDSPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTDSPL2	HGNC	protein_coding	OTTHUMT00000253851.1	-	0.00	28	0	G	NM_016396		44776523	+1	tier1	-	no_errors	ENST00000260327	ensembl	human	known	74_37	missense	14.29	18	3	SNP	1.000	T
CT62	196993	genome.wustl.edu	37	15	71404619	71404619	+	Start_Codon_SNP	SNP	C	C	A			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr15:71404619C>A	ENST00000449977.2	-	3	509	c.3G>T	c.(1-3)atG>atT	p.M1I	THSD4_ENST00000355327.3_Intron|CT62_ENST00000566432.1_Start_Codon_SNP_p.M1I	NM_001102658.1	NP_001096128.1	P0C5K7	CT62_HUMAN	cancer/testis antigen 62	1										NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)	6						TCGTATGCatcatttatcaac	0.418																																																	0													82.0	89.0	87.0					15																	71404619		1936	4121	6057	SO:0001582	initiator_codon_variant	0			BC039359, AL080151	CCDS45295.1	15q23	2011-03-09			ENSG00000225362	ENSG00000225362			27286	protein-coding gene	gene with protein product						15905330	Standard	NM_001102658		Approved		uc002ata.2	P0C5K7		ENST00000449977.2:c.3G>T	15.37:g.71404619C>A	ENSP00000399356:p.Met1Ile			Missense_Mutation	SNP	NULL	p.M1I	ENST00000449977.2	37	c.3	CCDS45295.1	15	.	.	.	.	.	.	.	.	.	.	C	0.252	-1.006045	0.02112	.	.	ENSG00000225362	ENST00000449977	.	.	.	2.99	-3.33	0.04958	.	.	.	.	.	T	0.25680	0.0625	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.20840	-1.0263	7	0.87932	D	0	.	2.8398	0.05525	0.4499:0.3256:0.1212:0.1033	.	1	P0C5K7	CT62_HUMAN	I	1	.	ENSP00000399356:M1I	M	-	3	0	CT62	69191673	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.701000	0.05075	-1.259000	0.02468	-2.841000	0.00105	ATG	CT62	-	NULL	ENSG00000225362		0.418	CT62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CT62	HGNC	protein_coding	OTTHUMT00000420810.1	-	0.00	71	0	C	NM_001102658	Missense_Mutation	71404619	-1	tier1	-	no_errors	ENST00000449977	ensembl	human	known	74_37	missense	5.88	64	4	SNP	0.000	A
CUL9	23113	genome.wustl.edu	37	6	43190586	43190589	+	Frame_Shift_Del	DEL	CAGA	CAGA	-	rs371313602		TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	CAGA	CAGA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr6:43190586_43190589delCAGA	ENST00000252050.4	+	38	7186_7189	c.7102_7105delCAGA	c.(7102-7107)cagacafs	p.QT2368fs	RP3-330M21.5_ENST00000500590.1_RNA|CUL9_ENST00000372647.2_Frame_Shift_Del_p.QT2340fs|CUL9_ENST00000354495.3_Frame_Shift_Del_p.QT2258fs	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	2368					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						GGTGGAGCAGCAGACAGAGAACCT	0.637																																																	0																																										SO:0001589	frameshift_variant	0			AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.7102_7105delCAGA	6.37:g.43190590_43190593delCAGA	ENSP00000252050:p.Gln2368fs		O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Frame_Shift_Del	DEL	pfam_Cullin_N,pfam_CPH_domain,pfam_Znf_C6HC,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,superfamily_UBA-like,smart_Cullin_neddylation_domain,smart_Znf_C6HC,pfscan_Znf_RING,pfscan_Cullin_homology	p.T2369fs	ENST00000252050.4	37	c.7102_7105	CCDS4890.1	6																																																																																			CUL9	-	NULL	ENSG00000112659		0.637	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL9	HGNC	protein_coding	OTTHUMT00000040582.2		0.00	57	0	CAGA	NM_015089		43190589	+1			no_errors	ENST00000252050	ensembl	human	known	74_37	frame_shift_del	8.33	66	6	DEL	1.000:1.000:1.000:1.000	0
CYP17A1	1586	genome.wustl.edu	37	10	104593587	104593587	+	Intron	SNP	G	G	T			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr10:104593587G>T	ENST00000369887.3	-	4	925				CYP17A1-AS1_ENST00000369884.4_RNA|CYP17A1_ENST00000489268.1_5'UTR	NM_000102.3	NP_000093.1	P05093	CP17A_HUMAN	cytochrome P450, family 17, subfamily A, polypeptide 1						adrenal gland development (GO:0030325)|androgen biosynthetic process (GO:0006702)|biphenyl metabolic process (GO:0018879)|cellular response to antibiotic (GO:0071236)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to lipopolysaccharide (GO:0071222)|dibenzo-p-dioxin metabolic process (GO:0018894)|glucocorticoid biosynthetic process (GO:0006704)|hippocampus development (GO:0021766)|hormone biosynthetic process (GO:0042446)|Leydig cell differentiation (GO:0033327)|ovulation (GO:0030728)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|progesterone metabolic process (GO:0042448)|response to acetate (GO:0010034)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to fungicide (GO:0060992)|response to herbicide (GO:0009635)|response to insecticide (GO:0017085)|response to ionizing radiation (GO:0010212)|response to methylmercury (GO:0051597)|response to nutrient levels (GO:0031667)|response to retinoic acid (GO:0032526)|response to steroid hormone (GO:0048545)|sex differentiation (GO:0007548)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	axon (GO:0030424)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)	17-alpha-hydroxyprogesterone aldolase activity (GO:0047442)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|steroid 17-alpha-monooxygenase activity (GO:0004508)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	Abiraterone(DB05812)|Aminophenazone(DB01424)|Dexamethasone(DB01234)|Metoclopramide(DB01233)|Progesterone(DB00396)	gacctcaattgatctgcccac	0.512																																																	0																																										SO:0001627	intron_variant	0			M19489	CCDS7541.1	10q24.3	2010-05-04	2003-02-14	2003-02-28	ENSG00000148795	ENSG00000148795	1.14.99.9	"""Cytochrome P450s"""	2593	protein-coding gene	gene with protein product	"""Steroid 17-alpha-monooxygenase"""	609300	"""cytochrome P450, subfamily XVII (steroid 17-alpha-hydroxylase), adrenal hyperplasia"""	CYP17		1347802	Standard	NM_000102		Approved	P450C17, CPT7, S17AH	uc001kwg.3	P05093	OTTHUMG00000018969	ENST00000369887.3:c.753+205C>A	10.37:g.104593587G>T			Q5TZV7	RNA	SNP	-	NULL	ENST00000369887.3	37	NULL	CCDS7541.1	10																																																																																			CYP17A1	-	-	ENSG00000148795		0.512	CYP17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP17A1	HGNC	protein_coding	OTTHUMT00000050101.1	-	0.00	9	0	G	NM_000102		104593587	-1	tier1	-	no_errors	ENST00000489268	ensembl	human	known	74_37	rna	58.33	5	7	SNP	0.004	T
DENND4C	55667	genome.wustl.edu	37	9	19332129	19332129	+	Missense_Mutation	SNP	G	G	A			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr9:19332129G>A	ENST00000380432.2	+	13	1732	c.1699G>A	c.(1699-1701)Gca>Aca	p.A567T	DENND4C_ENST00000434457.2_Missense_Mutation_p.A803T|DENND4C_ENST00000602925.1_Missense_Mutation_p.A803T			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	567					cellular response to insulin stimulus (GO:0032869)|positive regulation of Rab GTPase activity (GO:0032851)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)	cytosol (GO:0005829)|insulin-responsive compartment (GO:0032593)|plasma membrane (GO:0005886)|retromer complex (GO:0030904)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						ACTTCAGCAGGCATATGATGT	0.363																																																	0													148.0	138.0	141.0					9																	19332129		2203	4300	6503	SO:0001583	missense	0			AK000693	CCDS6491.2, CCDS6491.3	9p22.1	2012-10-03	2006-01-27	2006-01-27	ENSG00000137145	ENSG00000137145		"""DENN/MADD domain containing"""	26079	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 55B"", ""chromosome 9 open reading frame 55"""	C9orf55B, C9orf55		12906859	Standard	NM_017925		Approved	FLJ20686, bA513M16.3	uc031tcw.1	Q5VZ89	OTTHUMG00000019627	ENST00000380432.2:c.1699G>A	9.37:g.19332129G>A	ENSP00000369797:p.Ala567Thr		A2A3R1|A2A3R2|A2A3R3|A2A3R9|Q6AI48|Q6ZUB3|Q8NCY7|Q9H6N4|Q9NUT1|Q9NWA5|Q9NWT3	Missense_Mutation	SNP	pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.A803T	ENST00000380432.2	37	c.2407		9	.	.	.	.	.	.	.	.	.	.	G	34	5.303462	0.95601	.	.	ENSG00000137145	ENST00000380437	.	.	.	4.87	4.87	0.63330	.	0.048649	0.85682	D	0.000000	D	0.83431	0.5253	M	0.83483	2.645	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.85891	0.1428	9	0.87932	D	0	-18.2587	18.5595	0.91095	0.0:0.0:1.0:0.0	.	567	Q5VZ89	DEN4C_HUMAN	T	567	.	ENSP00000369802:A567T	A	+	1	0	DENND4C	19322129	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.601000	0.98297	2.696000	0.92011	0.655000	0.94253	GCA	DENND4C	-	NULL	ENSG00000137145		0.363	DENND4C-201	KNOWN	basic	protein_coding	DENND4C	HGNC	protein_coding		-	0.00	59	0	G	NM_017925		19332129	+1	tier1	-	no_errors	ENST00000602925	ensembl	human	known	74_37	missense	5.80	65	4	SNP	1.000	A
DGKA	1606	genome.wustl.edu	37	12	56333042	56333042	+	Missense_Mutation	SNP	G	G	A			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr12:56333042G>A	ENST00000331886.5	+	8	1001	c.547G>A	c.(547-549)Gct>Act	p.A183T	DGKA_ENST00000551156.1_Missense_Mutation_p.A183T|DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000394147.1_Missense_Mutation_p.A183T	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	183	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	GTGGGTCCGGGCTGGGGCCAC	0.537																																																	0													99.0	97.0	98.0					12																	56333042		2203	4300	6503	SO:0001583	missense	0			AF064767	CCDS8896.1	12q13.3	2013-01-10	2002-08-29			ENSG00000065357	2.7.1.107	"""EF-hand domain containing"""	2849	protein-coding gene	gene with protein product		125855	"""diacylglycerol kinase, alpha (80kD)"""	DAGK, DAGK1		8180475, 7959783	Standard	NM_001345		Approved	DGK-alpha	uc001sim.3	P23743		ENST00000331886.5:c.547G>A	12.37:g.56333042G>A	ENSP00000328405:p.Ala183Thr		O75481|O75482|O75483|O95217|Q3ZE25|Q8IZ56|Q8N5Q2	Missense_Mutation	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.A183T	ENST00000331886.5	37	c.547	CCDS8896.1	12	.	.	.	.	.	.	.	.	.	.	G	16.21	3.057584	0.55325	.	.	ENSG00000065357	ENST00000331886;ENST00000555218;ENST00000394147;ENST00000551156	T;T;T;T	0.69040	1.46;-0.37;1.46;1.46	5.03	4.13	0.48395	EF-hand-like domain (1);	0.055638	0.64402	D	0.000001	T	0.67316	0.2880	L	0.34521	1.04	0.44562	D	0.997526	P;P;P;P	0.51537	0.946;0.69;0.932;0.563	P;P;P;B	0.54060	0.741;0.614;0.476;0.315	T	0.71998	-0.4423	10	0.87932	D	0	.	14.1067	0.65093	0.0:0.0:0.848:0.152	.	183;102;183;183	Q3ZE25;G3V4E1;B4E0C6;P23743	.;.;.;DGKA_HUMAN	T	183;102;183;183	ENSP00000328405:A183T;ENSP00000451743:A102T;ENSP00000377703:A183T;ENSP00000450359:A183T	ENSP00000328405:A183T	A	+	1	0	DGKA	54619309	1.000000	0.71417	1.000000	0.80357	0.001000	0.01503	9.297000	0.96120	1.478000	0.48253	-0.282000	0.10007	GCT	DGKA	-	smart_EF_hand_dom,pfscan_EF_hand_dom	ENSG00000065357		0.537	DGKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGKA	HGNC	protein_coding	OTTHUMT00000407291.1		0.00	44	0	G			56333042	+1			no_errors	ENST00000331886	ensembl	human	known	74_37	missense	5.33	70	4	SNP	1.000	A
DIDO1	11083	genome.wustl.edu	37	20	61510960	61510961	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	CT	CT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr20:61510960_61510961delCT	ENST00000266070.4	-	16	6672_6673	c.6347_6348delAG	c.(6346-6348)gagfs	p.E2116fs	DIDO1_ENST00000395343.1_Frame_Shift_Del_p.E2116fs	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	2116	Arg-rich.				apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					cGCGCTCGCGCTCTCTCCTCCT	0.698																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)												0																																										SO:0001589	frameshift_variant	0			AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.6347_6348delAG	20.37:g.61510964_61510965delCT	ENSP00000266070:p.Glu2116fs		A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Frame_Shift_Del	DEL	pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger	p.E2116fs	ENST00000266070.4	37	c.6348_6347	CCDS33506.1	20																																																																																			DIDO1	-	NULL	ENSG00000101191		0.698	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIDO1	HGNC	protein_coding	OTTHUMT00000080091.2		0.00	147	0	CT	NM_080796		61510961	-1	tier1		no_errors	ENST00000266070	ensembl	human	known	74_37	frame_shift_del	12.92	209	31	DEL	0.996:1.000	-
DNAH8	1769	genome.wustl.edu	37	6	38690687	38690687	+	5'Flank	SNP	G	G	T			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr6:38690687G>T	ENST00000359357.3	+	0	0				DNAH8_ENST00000449981.2_Silent_p.P34P			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8						cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.P34P(1)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AAGAGGCCCCGCGCCCTCCGA	0.592																																																	1	Substitution - coding silent(1)	prostate(1)											21.0	22.0	22.0					6																	38690687		876	1991	2867	SO:0001631	upstream_gene_variant	0			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253		6.37:g.38690687G>T	Exception_encountered		O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Silent	SNP	pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.P34	ENST00000359357.3	37	c.102		6																																																																																			DNAH8	-	NULL	ENSG00000124721		0.592	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	DNAH8	HGNC	protein_coding	OTTHUMT00000043574.1		0.00	59	0	G	NM_001206927		38690687	+1			no_errors	ENST00000449981	ensembl	human	known	74_37	silent	5.00	38	2	SNP	0.076	T
DNHD1	144132	genome.wustl.edu	37	11	6567757	6567757	+	Missense_Mutation	SNP	G	G	A			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr11:6567757G>A	ENST00000527990.2	+	19	5588	c.5588G>A	c.(5587-5589)cGt>cAt	p.R1863H	DNHD1_ENST00000254579.6_Missense_Mutation_p.R1863H			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	1863					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TCTCTAGAGCGTGAGCTGGTG	0.572																																																	0													13.0	14.0	14.0					11																	6567757		692	1591	2283	SO:0001583	missense	0			AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 47"", ""dynein heavy chain domain 1-like"", ""coiled-coil domain containing 35"""	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.5588G>A	11.37:g.6567757G>A	ENSP00000436180:p.Arg1863His		Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom,superfamily_P-loop_NTPase,superfamily_t-SNARE	p.R1863H	ENST00000527990.2	37	c.5588	CCDS44532.1	11	.	.	.	.	.	.	.	.	.	.	G	16.87	3.241234	0.58995	.	.	ENSG00000179532	ENST00000254579;ENST00000527990;ENST00000533649	T;T	0.10192	2.9;2.9	4.96	-1.59	0.08453	.	0.615312	0.15014	N	0.285393	T	0.09730	0.0239	L	0.52573	1.65	0.29148	N	0.878577	B	0.26081	0.141	B	0.17722	0.019	T	0.14008	-1.0488	10	0.45353	T	0.12	.	10.9993	0.47596	0.4699:0.0:0.5301:0.0	.	1863	Q96M86	DNHD1_HUMAN	H	1863;1863;154	ENSP00000254579:R1863H;ENSP00000436180:R1863H	ENSP00000254579:R1863H	R	+	2	0	DNHD1	6524333	0.015000	0.18098	0.902000	0.35471	0.979000	0.70002	-0.031000	0.12287	-0.159000	0.11021	-0.140000	0.14226	CGT	DNHD1	-	NULL	ENSG00000179532		0.572	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	DNHD1	HGNC	protein_coding	OTTHUMT00000384673.2	-	0.00	46	0	G	NM_144666		6567757	+1	tier1	-	no_errors	ENST00000254579	ensembl	human	known	74_37	missense	13.21	46	7	SNP	0.800	A
CSPG4P5	114817	genome.wustl.edu	37	15	84957968	84957968	+	RNA	SNP	G	G	A			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr15:84957968G>A	ENST00000558801.1	-	0	6761									DNM1 pseudogene 51																		CAGAGAGGAGGTCCTTGTGGG	0.597																																																	0																																												0					15q25.2	2013-05-16			ENSG00000259297	ENSG00000235370			48500	pseudogene	pseudogene							Standard			Approved				OTTHUMG00000172438		15.37:g.84957968G>A				RNA	SNP	-	NULL	ENST00000558801.1	37	NULL		15																																																																																			DNM1P51	-	-	ENSG00000235370		0.597	DNM1P51-001	KNOWN	basic	processed_transcript	DNM1P51	HGNC	pseudogene	OTTHUMT00000471721.1	-	0.00	86	0	G			84957968	-1	tier1	-	no_errors	ENST00000558801	ensembl	human	known	74_37	rna	9.71	93	10	SNP	0.353	A
DONSON	29980	genome.wustl.edu	37	21	34951796	34951796	+	Missense_Mutation	SNP	G	G	T			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr21:34951796G>T	ENST00000303071.5	-	9	1489	c.1423C>A	c.(1423-1425)Cct>Act	p.P475T	DONSON_ENST00000432378.1_Intron|DONSON_ENST00000453626.1_Intron|DONSON_ENST00000303113.6_Missense_Mutation_p.P461T	NM_017613.3	NP_060083.1	Q9NYP3	DONS_HUMAN	downstream neighbor of SON	475					multicellular organismal development (GO:0007275)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|ovary(1)	11						GGCATGATAGGACCTGTAATC	0.428																																																	0													155.0	139.0	145.0					21																	34951796		2203	4300	6503	SO:0001583	missense	0			AF000002	CCDS13632.1	21q22.1	2008-07-31			ENSG00000159147	ENSG00000159147			2993	protein-coding gene	gene with protein product		611428		C21orf60		10773462, 10950926	Standard	NM_017613		Approved	B17, C2TA, DKFZP434M035	uc002ysk.4	Q9NYP3	OTTHUMG00000065904	ENST00000303071.5:c.1423C>A	21.37:g.34951796G>T	ENSP00000307143:p.Pro475Thr		Q8NC53|Q9NSR9|Q9NVZ5|Q9NYP1|Q9NYP2	Missense_Mutation	SNP	NULL	p.P475T	ENST00000303071.5	37	c.1423	CCDS13632.1	21	.	.	.	.	.	.	.	.	.	.	G	26.2	4.719583	0.89205	.	.	ENSG00000159147	ENST00000303113;ENST00000303071	.	.	.	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.84710	0.5532	M	0.85197	2.74	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86036	0.1516	9	0.72032	D	0.01	-14.1107	19.6901	0.95998	0.0:0.0:1.0:0.0	.	461;475	F8W8A5;Q9NYP3	.;DONS_HUMAN	T	461;475	.	ENSP00000307143:P475T	P	-	1	0	DONSON	33873666	1.000000	0.71417	0.854000	0.33618	0.981000	0.71138	8.618000	0.90932	2.753000	0.94483	0.467000	0.42956	CCT	DONSON	-	NULL	ENSG00000159147		0.428	DONSON-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DONSON	HGNC	protein_coding	OTTHUMT00000141184.1		0.00	99	0	G	NM_017613		34951796	-1			no_errors	ENST00000303071	ensembl	human	known	74_37	missense	5.41	70	4	SNP	1.000	T
DOPEY2	9980	genome.wustl.edu	37	21	37636099	37636099	+	Frame_Shift_Del	DEL	A	A	-			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr21:37636099delA	ENST00000399151.3	+	26	5559	c.5474delA	c.(5473-5475)caafs	p.Q1825fs		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1825					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						AAGAAGGACCAAAAAGACCTG	0.423																																																	0													111.0	116.0	114.0					21																	37636099		2203	4300	6503	SO:0001589	frameshift_variant	0			AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"""chromosome 21 open reading frame 5"""	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.5474delA	21.37:g.37636099delA	ENSP00000382104:p.Gln1825fs		D3DSG5|Q6PJQ7|Q9UEZ3	Frame_Shift_Del	DEL	pfam_Dopey_N	p.D1827fs	ENST00000399151.3	37	c.5474	CCDS13643.1	21																																																																																			DOPEY2	-	NULL	ENSG00000142197		0.423	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOPEY2	HGNC	protein_coding	OTTHUMT00000194636.1		0.00	40	0	A	NM_005128		37636099	+1	tier1		no_errors	ENST00000399151	ensembl	human	known	74_37	frame_shift_del	7.14	26	2	DEL	0.526	-
DPP4	1803	genome.wustl.edu	37	2	162873639	162873639	+	Missense_Mutation	SNP	G	G	T			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr2:162873639G>T	ENST00000360534.3	-	17	2007	c.1447C>A	c.(1447-1449)Cac>Aac	p.H483N	DPP4_ENST00000491591.1_5'UTR	NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	483					cell adhesion (GO:0007155)|endothelial cell migration (GO:0043542)|negative regulation of extracellular matrix disassembly (GO:0010716)|positive regulation of cell proliferation (GO:0008284)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to hypoxia (GO:0001666)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|invadopodium membrane (GO:0071438)|lamellipodium (GO:0030027)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Alogliptin(DB06203)|Atorvastatin(DB01076)|Linagliptin(DB08882)|Liraglutide(DB06655)|Saxagliptin(DB06335)|Sitagliptin(DB01261)|Vildagliptin(DB04876)	ACGCTGCTGTGTAGAGTATAG	0.343																																																	0													66.0	66.0	66.0					2																	162873639		2203	4300	6503	SO:0001583	missense	0			M74777	CCDS2216.1	2q24.2	2013-09-19	2008-08-01		ENSG00000197635	ENSG00000197635	3.4.14.5	"""CD molecules"""	3009	protein-coding gene	gene with protein product		102720	"""dipeptidylpeptidase IV (CD26, adenosine deaminase complexing protein 2)"", ""adenosine deaminase complexing protein 2"""	CD26, ADCP2		8101391	Standard	NM_001935		Approved	DPPIV	uc002ubz.3	P27487	OTTHUMG00000132056	ENST00000360534.3:c.1447C>A	2.37:g.162873639G>T	ENSP00000353731:p.His483Asn		Q53TN1	Missense_Mutation	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9	p.H483N	ENST00000360534.3	37	c.1447	CCDS2216.1	2	.	.	.	.	.	.	.	.	.	.	G	12.10	1.837006	0.32421	.	.	ENSG00000197635	ENST00000360534	D	0.95885	-3.84	5.63	5.63	0.86233	.	0.273464	0.41097	D	0.000958	D	0.92280	0.7551	L	0.38649	1.16	0.40467	D	0.980304	B	0.27286	0.174	B	0.30716	0.119	D	0.89693	0.3899	10	0.48119	T	0.1	-23.5896	12.3698	0.55248	0.0768:0.0:0.9231:0.0	.	483	P27487	DPP4_HUMAN	N	483	ENSP00000353731:H483N	ENSP00000353731:H483N	H	-	1	0	DPP4	162581885	0.993000	0.37304	0.992000	0.48379	0.310000	0.27922	1.845000	0.39279	2.805000	0.96524	0.655000	0.94253	CAC	DPP4	-	NULL	ENSG00000197635		0.343	DPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPP4	HGNC	protein_coding	OTTHUMT00000255079.2	-	0.00	70	0	G			162873639	-1	tier1	-	no_errors	ENST00000360534	ensembl	human	known	74_37	missense	5.13	74	4	SNP	1.000	T
DPYD	1806	genome.wustl.edu	37	1	98293720	98293720	+	Missense_Mutation	SNP	G	G	T			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr1:98293720G>T	ENST00000370192.3	-	3	283	c.183C>A	c.(181-183)gaC>gaA	p.D61E	DPYD_ENST00000306031.5_Missense_Mutation_p.D61E|DPYD_ENST00000423006.2_Missense_Mutation_p.D24E	NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	61					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	TGTGCTTGATGTCATCAAAAT	0.388																																																	0													103.0	92.0	96.0					1																	98293720		2203	4300	6503	SO:0001583	missense	0			U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.183C>A	1.37:g.98293720G>T	ENSP00000359211:p.Asp61Glu		A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Missense_Mutation	SNP	pfam_Dihydroorotate_DH_1_2,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_tRNA_hU_synthase,superfamily_Helical_ferredxn,prints_FAD_pyr_nucl-diS_OxRdtase,tigrfam_Dihydroorotate_DH	p.D61E	ENST00000370192.3	37	c.183	CCDS30777.1	1	.	.	.	.	.	.	.	.	.	.	G	17.89	3.498810	0.64298	.	.	ENSG00000188641	ENST00000370192;ENST00000423006;ENST00000306031	T;T;T	0.68331	-0.32;-0.32;-0.32	5.57	5.57	0.84162	Fumarate reductase, C-terminal (1);Alpha-helical ferredoxin (1);	0.000000	0.85682	D	0.000000	T	0.61751	0.2372	L	0.33093	0.98	0.58432	D	0.999995	D;D	0.76494	0.999;0.997	D;D	0.81914	0.954;0.995	T	0.58504	-0.7625	10	0.02654	T	1	-18.9025	19.5425	0.95280	0.0:0.0:1.0:0.0	.	61;61	E9PFN1;Q12882	.;DPYD_HUMAN	E	61;24;61	ENSP00000359211:D61E;ENSP00000398884:D24E;ENSP00000307107:D61E	ENSP00000307107:D61E	D	-	3	2	DPYD	98066308	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.496000	0.90485	2.606000	0.88127	0.563000	0.77884	GAC	DPYD	-	superfamily_Helical_ferredxn	ENSG00000188641		0.388	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPYD	HGNC	protein_coding	OTTHUMT00000095698.3		0.00	25	0	G	NM_000110		98293720	-1			no_errors	ENST00000370192	ensembl	human	known	74_37	missense	8.00	46	4	SNP	1.000	T
DUSP22	56940	genome.wustl.edu	37	6	348890	348890	+	Intron	SNP	G	G	A	rs371009476		TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr6:348890G>A	ENST00000344450.5	+	7	951				DUSP22_ENST00000605035.1_3'UTR|DUSP22_ENST00000605315.1_Missense_Mutation_p.R83Q|DUSP22_ENST00000419235.2_Missense_Mutation_p.R186Q|DUSP22_ENST00000603453.1_Missense_Mutation_p.R83Q|DUSP22_ENST00000604971.1_Missense_Mutation_p.R83Q	NM_020185.3	NP_064570.1	Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22						apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of JNK cascade (GO:0046330)|protein dephosphorylation (GO:0006470)|regulation of cell proliferation (GO:0042127)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		GGCGCCAGGCGGTGGAGCAGT	0.552																																																	0								G		0,4406		0,0,2203	36.0	36.0	36.0			4.8	1.0	6		36	2,8598	2.2+/-6.3	0,2,4298	no	intron	DUSP22	NM_020185.3		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154			348890	2,13004	2203	4300	6503	SO:0001627	intron_variant	0			AF165519	CCDS4468.1, CCDS69035.1	6p25.3	2013-09-19			ENSG00000112679	ENSG00000112679		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	16077	protein-coding gene	gene with protein product						9205128, 11717427	Standard	NM_001286555		Approved	MKPX, JSP1, JKAP, VHX	uc003msx.3	Q9NRW4	OTTHUMG00000014113	ENST00000344450.5:c.508+49G>A	6.37:g.348890G>A			B4DK56|Q59GW2|Q5VWR2|Q96AR1	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.R186Q	ENST00000344450.5	37	c.557	CCDS4468.1	6																																																																																			DUSP22	-	NULL	ENSG00000112679		0.552	DUSP22-001	KNOWN	basic|CCDS	protein_coding	DUSP22	HGNC	protein_coding	OTTHUMT00000039621.1	-	0.00	52	0	G	NM_020185		348890	+1	tier1	-	no_errors	ENST00000419235	ensembl	human	known	74_37	missense	22.50	31	9	SNP	1.000	A
DUSP4	1846	genome.wustl.edu	37	8	29195866	29195866	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr8:29195866G>T	ENST00000240100.2	-	3	1121	c.732C>A	c.(730-732)tgC>tgA	p.C244*	DUSP4_ENST00000240101.2_Nonsense_Mutation_p.C153*	NM_001394.6	NP_001385.1	Q13115	DUS4_HUMAN	dual specificity phosphatase 4	244	Tyrosine-protein phosphatase.				endoderm formation (GO:0001706)|innate immune response (GO:0045087)|MAPK cascade (GO:0000165)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein dephosphorylation (GO:0006470)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|protein tyrosine/threonine phosphatase activity (GO:0008330)			endometrium(1)|large_intestine(1)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113)		CCACTGGGATGCACTTGTACT	0.557																																																	0													193.0	156.0	168.0					8																	29195866		2203	4300	6503	SO:0001587	stop_gained	0			U21108	CCDS6072.1, CCDS6073.1	8p12-p11	2011-06-09			ENSG00000120875	ENSG00000120875		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3070	protein-coding gene	gene with protein product	"""VH1 homologous phosphatase 2"", ""MAP kinase phosphatase 2"""	602747				7535768, 9205128	Standard	NM_001394		Approved	HVH2, MKP-2, TYP	uc003xhm.3	Q13115	OTTHUMG00000133395	ENST00000240100.2:c.732C>A	8.37:g.29195866G>T	ENSP00000240100:p.Cys244*		B2RBU5|D3DSU4|G5E930|Q13524	Nonsense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pirsf_MKP,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP	p.C244*	ENST00000240100.2	37	c.732	CCDS6072.1	8	.	.	.	.	.	.	.	.	.	.	G	49	15.200393	0.99826	.	.	ENSG00000120875	ENST00000240100;ENST00000240101	.	.	.	4.93	2.15	0.27550	.	0.041709	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	7.7746	0.29030	0.3466:0.0:0.6534:0.0	.	.	.	.	X	244;153	.	ENSP00000240100:C244X	C	-	3	2	DUSP4	29251785	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	0.958000	0.29227	0.334000	0.23590	0.563000	0.77884	TGC	DUSP4	-	pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pirsf_MKP,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP	ENSG00000120875		0.557	DUSP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP4	HGNC	protein_coding	OTTHUMT00000257249.1		0.00	54	0	G	NM_001394		29195866	-1			no_errors	ENST00000240100	ensembl	human	known	74_37	nonsense	6.25	30	2	SNP	1.000	T
EFR3B	22979	genome.wustl.edu	37	2	25353471	25353471	+	Missense_Mutation	SNP	G	G	A			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr2:25353471G>A	ENST00000403714.3	+	8	1004	c.821G>A	c.(820-822)tGc>tAc	p.C274Y	EFR3B_ENST00000405108.1_Missense_Mutation_p.C126Y|EFR3B_ENST00000402191.1_Missense_Mutation_p.C239Y|EFR3B_ENST00000401432.3_Missense_Mutation_p.C274Y	NM_014971.1	NP_055786.1	Q9Y2G0	EFR3B_HUMAN	EFR3 homolog B (S. cerevisiae)	274										endometrium(1)	1						GCCATCCGTTGCTTTAAAATC	0.502																																																	0													130.0	116.0	120.0					2																	25353471		692	1591	2283	SO:0001583	missense	0			AB023170	CCDS46231.1	2p24.1	2008-02-05	2007-11-14	2007-11-14	ENSG00000084710	ENSG00000084710			29155	protein-coding gene	gene with protein product			"""KIAA0953"""	KIAA0953		10231032	Standard	NM_014971		Approved	FLJ37871	uc010eyh.3	Q9Y2G0	OTTHUMG00000151988	ENST00000403714.3:c.821G>A	2.37:g.25353471G>A	ENSP00000384081:p.Cys274Tyr		B7WPL8|Q86XU6	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.C274Y	ENST00000403714.3	37	c.821	CCDS46231.1	2	.	.	.	.	.	.	.	.	.	.	G	27.8	4.863893	0.91511	.	.	ENSG00000084710	ENST00000401432;ENST00000403714;ENST00000402191;ENST00000545169;ENST00000405108;ENST00000264719	T;T;T;T;T	0.67345	-0.26;-0.26;-0.24;3.48;3.48	5.13	5.13	0.70059	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.81828	0.4905	M	0.76574	2.34	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.87578	0.998;0.956	D	0.84097	0.0393	10	0.72032	D	0.01	-30.5384	17.1566	0.86793	0.0:0.0:1.0:0.0	.	274;274	Q9Y2G0;Q9Y2G0-3	EFR3B_HUMAN;.	Y	274;274;239;239;126;153	ENSP00000386082:C274Y;ENSP00000384081:C274Y;ENSP00000385832:C239Y;ENSP00000384454:C126Y;ENSP00000264719:C153Y	ENSP00000264719:C153Y	C	+	2	0	EFR3B	25206975	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.808000	0.99193	2.385000	0.81259	0.561000	0.74099	TGC	EFR3B	-	superfamily_ARM-type_fold	ENSG00000084710		0.502	EFR3B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	EFR3B	HGNC	protein_coding	OTTHUMT00000324808.1		0.00	67	0	G	NM_014971		25353471	+1			no_errors	ENST00000403714	ensembl	human	known	74_37	missense	5.41	70	4	SNP	1.000	A
PEX26	55670	genome.wustl.edu	37	22	18560843	18560843	+	5'UTR	SNP	G	G	A			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr22:18560843G>A	ENST00000399744.3	+	0	70				PEX26_ENST00000329627.7_Intron|PEX26_ENST00000428061.2_5'Flank|XXbac-B476C20.9_ENST00000607927.1_RNA|XXbac-B476C20.9_ENST00000426483.1_RNA	NM_001127649.2	NP_001121121.1	Q7Z412	PEX26_HUMAN	peroxisomal biogenesis factor 26						protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome membrane (GO:0045046)	integral component of peroxisomal membrane (GO:0005779)|peroxisome (GO:0005777)	ATPase binding (GO:0051117)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			breast(1)|kidney(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						CAGGAGCCCGGAGCTGAGGCA	0.657																																																	0																																										SO:0001623	5_prime_UTR_variant	0			AB089678	CCDS13750.1, CCDS56221.1	22q11.21	2008-08-26	2008-08-26		ENSG00000215193	ENSG00000215193			22965	protein-coding gene	gene with protein product		608666	"""peroxisome biogenesis factor 26"""			12717447, 12851857	Standard	NM_017929		Approved	FLJ20695	uc002znp.4	Q7Z412	OTTHUMG00000149970	ENST00000399744.3:c.-300G>A	22.37:g.18560843G>A			F6UBB5|Q7Z413|Q7Z414|Q7Z415|Q7Z416|Q96B12|Q9NWQ0|Q9NXU0	RNA	SNP	-	NULL	ENST00000399744.3	37	NULL	CCDS13750.1	22																																																																																			XXbac-B476C20.9	-	-	ENSG00000225335		0.657	PEX26-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000225335	Clone_based_vega_gene	protein_coding	OTTHUMT00000314645.1	-	0.00	20	0	G	NM_017929		18560843	-1	tier1	-	no_errors	ENST00000607927	ensembl	human	known	74_37	rna	22.86	27	8	SNP	0.000	A
AC027612.3	0	genome.wustl.edu	37	2	91893914	91893914	+	RNA	SNP	C	C	T			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr2:91893914C>T	ENST00000436174.1	-	0	304																											TCCTTCTGCTCCTTGGCCAAA	0.348																																																	0																																												0																															2.37:g.91893914C>T				RNA	SNP	-	NULL	ENST00000436174.1	37	NULL		2																																																																																			AC027612.3	-	-	ENSG00000230572		0.348	AC027612.3-002	KNOWN	basic	processed_transcript	ENSG00000230572	Clone_based_vega_gene	pseudogene	OTTHUMT00000338339.1	-	0.00	250	0	C			91893914	-1	tier1	-	no_errors	ENST00000436174	ensembl	human	known	74_37	rna	6.44	247	17	SNP	1.000	T
RP11-423O2.5	0	genome.wustl.edu	37	1	142803930	142803930	+	lincRNA	SNP	A	A	G	rs74792472		TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr1:142803930A>G	ENST00000423385.1	-	0	1035																											AATTTGATTAACTTCTAAATT	0.328																																																	0																																												0																															1.37:g.142803930A>G				RNA	SNP	-	NULL	ENST00000423385.1	37	NULL		1																																																																																			RP11-423O2.5	-	-	ENSG00000234978		0.328	RP11-423O2.5-001	KNOWN	basic	lincRNA	ENSG00000234978	Clone_based_vega_gene	lincRNA	OTTHUMT00000193203.1		0.00	19	0	A			142803930	-1			no_errors	ENST00000423385	ensembl	human	known	74_37	rna	12.00	22	3	SNP	0.001	G
RGS12	6002	genome.wustl.edu	37	4	3314643	3314644	+	5'Flank	INS	-	-	A	rs76913216		TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr4:3314643_3314644insA	ENST00000344733.5	+	0	0				RGS12_ENST00000336727.3_5'Flank|RGS12_ENST00000543385.1_Intron|RP11-357G3.2_ENST00000600073.1_RNA	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12						positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CAGTTTTCTCCAAAAAAAAAAA	0.436																																																	0																																										SO:0001631	upstream_gene_variant	0			AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"""Regulators of G-protein signaling"""	9994	protein-coding gene	gene with protein product		602512	"""regulator of G-protein signalling 12"""			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277		4.37:g.3314654_3314654dupA	Exception_encountered		B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	RNA	INS	-	NULL	ENST00000344733.5	37	NULL	CCDS3366.1	4																																																																																			RP11-357G3.2	-	-	ENSG00000248840		0.436	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000248840	Clone_based_vega_gene	protein_coding	OTTHUMT00000206602.1		0.00	29	0	-	NM_002926		3314644	+1	tier1		no_errors	ENST00000600073	ensembl	human	known	74_37	rna	15.00	17	3	INS	0.003:0.004	A
ADCY6	112	genome.wustl.edu	37	12	49160988	49160988	+	3'UTR	SNP	C	C	A			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr12:49160988C>A	ENST00000307885.4	-	0	5587				ADCY6_ENST00000550422.1_3'UTR|RP11-579D7.2_ENST00000548742.1_RNA|ADCY6_ENST00000357869.3_3'UTR	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6						activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|dopamine receptor signaling pathway (GO:0007212)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of neuron projection development (GO:0010977)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						CCATCAAACCCCAGACAGTTC	0.577																																																	0																																										SO:0001624	3_prime_UTR_variant	0				CCDS8767.1, CCDS8768.1	12q12-q13	2013-02-04				ENSG00000174233	4.6.1.1	"""Adenylate cyclases"""	237	protein-coding gene	gene with protein product		600294					Standard	NM_015270		Approved	AC6	uc001rsh.4	O43306		ENST00000307885.4:c.*1386G>T	12.37:g.49160988C>A			Q9NR75|Q9UDB0	RNA	SNP	-	NULL	ENST00000307885.4	37	NULL	CCDS8767.1	12																																																																																			RP11-579D7.2	-	-	ENSG00000257653		0.577	ADCY6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000257653	Clone_based_vega_gene	protein_coding	OTTHUMT00000408863.1	-	0.00	46	0	C	NM_020983		49160988	+1	tier1	-	no_errors	ENST00000548742	ensembl	human	known	74_37	rna	9.38	58	6	SNP	0.838	A
ENTHD1	150350	genome.wustl.edu	37	22	40161372	40161372	+	Missense_Mutation	SNP	G	G	T			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr22:40161372G>T	ENST00000325157.6	-	6	1325	c.1075C>A	c.(1075-1077)Cag>Aag	p.Q359K		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	359										breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					ACAGAGGCCTGGTTATGGAAA	0.408																																																	0													134.0	126.0	128.0					22																	40161372		2203	4300	6503	SO:0001583	missense	0			AK093154	CCDS13998.1	22q13.1	2006-06-26			ENSG00000176177	ENSG00000176177			26352	protein-coding gene	gene with protein product						12477932	Standard	NM_152512		Approved	FLJ25421	uc003ayg.3	Q8IYW4	OTTHUMG00000151098	ENST00000325157.6:c.1075C>A	22.37:g.40161372G>T	ENSP00000317431:p.Gln359Lys		B0QYD5|Q5H9F7|Q96LK3	Missense_Mutation	SNP	pfam_Epsin_dom_N,pfam_VHS,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N	p.Q359K	ENST00000325157.6	37	c.1075	CCDS13998.1	22	.	.	.	.	.	.	.	.	.	.	G	22.5	4.294230	0.81025	.	.	ENSG00000176177	ENST00000325157	T	0.62941	-0.01	5.91	5.91	0.95273	.	0.123107	0.38959	N	0.001505	T	0.70150	0.3191	L	0.34521	1.04	0.38405	D	0.945766	D	0.69078	0.997	D	0.80764	0.994	T	0.70171	-0.4945	10	0.40728	T	0.16	-14.1463	15.7986	0.78433	0.0:0.0:1.0:0.0	.	359	Q8IYW4	ENTD1_HUMAN	K	359	ENSP00000317431:Q359K	ENSP00000317431:Q359K	Q	-	1	0	ENTHD1	38491318	1.000000	0.71417	0.999000	0.59377	0.969000	0.65631	4.422000	0.59854	2.793000	0.96121	0.655000	0.94253	CAG	ENTHD1	-	NULL	ENSG00000176177		0.408	ENTHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENTHD1	HGNC	protein_coding	OTTHUMT00000321302.1	-	0.00	84	0	G	NM_152512		40161372	-1	tier1	-	no_errors	ENST00000325157	ensembl	human	known	74_37	missense	6.15	61	4	SNP	1.000	T
EP300	2033	genome.wustl.edu	37	22	41572509	41572509	+	Missense_Mutation	SNP	C	C	T			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr22:41572509C>T	ENST00000263253.7	+	30	6257	c.5038C>T	c.(5038-5040)Cgc>Tgc	p.R1680C	RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1680	Binding region for E1A adenovirus.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)	p.R1680C(1)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TGTGGAGACACGCTGGCACTG	0.577			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																															Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"""L, E"""	1	Substitution - Missense(1)	large_intestine(1)											80.0	62.0	68.0					22																	41572509		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.5038C>T	22.37:g.41572509C>T	ENSP00000263253:p.Arg1680Cys		B1AKC2	Missense_Mutation	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.R1680C	ENST00000263253.7	37	c.5038	CCDS14010.1	22	.	.	.	.	.	.	.	.	.	.	C	14.76	2.630406	0.46944	.	.	ENSG00000100393	ENST00000263253	D	0.96554	-4.05	5.23	2.84	0.33178	Zinc finger, ZZ-type (4);	0.000000	0.41605	D	0.000856	D	0.98576	0.9524	H	0.97465	4.01	0.49213	D	0.999763	D	0.89917	1.0	D	0.67231	0.95	D	0.99041	1.0824	10	0.72032	D	0.01	-6.8579	12.9086	0.58166	0.4032:0.5968:0.0:0.0	.	1680	Q09472	EP300_HUMAN	C	1680	ENSP00000263253:R1680C	ENSP00000263253:R1680C	R	+	1	0	EP300	39902455	0.981000	0.34729	0.900000	0.35374	0.947000	0.59692	2.686000	0.46968	1.313000	0.45069	0.650000	0.86243	CGC	EP300	-	pfam_Znf_ZZ,smart_Znf_ZZ,pfscan_Znf_ZZ	ENSG00000100393		0.577	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EP300	HGNC	protein_coding	OTTHUMT00000320600.1	-	0.00	20	0	C	NM_001429		41572509	+1	tier1	-	no_errors	ENST00000263253	ensembl	human	known	74_37	missense	23.81	16	5	SNP	0.969	T
EPB41L3	23136	genome.wustl.edu	37	18	5438063	5438063	+	Missense_Mutation	SNP	G	G	T			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr18:5438063G>T	ENST00000341928.2	-	6	916	c.576C>A	c.(574-576)gaC>gaA	p.D192E	EPB41L3_ENST00000540638.2_Missense_Mutation_p.D192E|EPB41L3_ENST00000400111.3_Missense_Mutation_p.D192E|EPB41L3_ENST00000342933.3_Missense_Mutation_p.D192E|EPB41L3_ENST00000544123.1_Missense_Mutation_p.D192E|EPB41L3_ENST00000542652.2_Intron	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	192	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						GTTGGGCAGGGTCTGGTGGAT	0.383																																																	0													119.0	114.0	116.0					18																	5438063		2203	4300	6503	SO:0001583	missense	0			AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.576C>A	18.37:g.5438063G>T	ENSP00000343158:p.Asp192Glu		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like	p.D192E	ENST00000341928.2	37	c.576	CCDS11838.1	18	.	.	.	.	.	.	.	.	.	.	G	17.50	3.403991	0.62288	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000342933;ENST00000400111;ENST00000542652	D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57	5.83	2.07	0.26955	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);FERM conserved site (1);	0.040856	0.85682	D	0.000000	D	0.85124	0.5625	L	0.42245	1.32	0.80722	D	1	D;B;D;D;B	0.76494	0.985;0.257;0.999;0.999;0.064	P;B;D;D;B	0.76575	0.681;0.065;0.988;0.979;0.23	T	0.81963	-0.0692	10	0.42905	T	0.14	.	9.4957	0.38986	0.3985:0.0:0.6015:0.0	.	192;192;83;192;192	F5GX05;Q9Y2J2-3;A8K968;Q9Y2J2-2;Q9Y2J2	.;.;.;.;E41L3_HUMAN	E	192;83;192;83;192;192;273	ENSP00000343158:D192E;ENSP00000441174:D192E;ENSP00000341138:D192E;ENSP00000382981:D192E	ENSP00000343158:D192E	D	-	3	2	EPB41L3	5428063	1.000000	0.71417	0.999000	0.59377	0.843000	0.47879	1.494000	0.35616	0.403000	0.25479	-0.136000	0.14681	GAC	EPB41L3	-	pirsf_Band_41_protein,pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Ez/rad/moesin_like	ENSG00000082397		0.383	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPB41L3	HGNC	protein_coding	OTTHUMT00000254424.1	-	0.00	41	0	G	NM_012307		5438063	-1	tier1	-	no_errors	ENST00000341928	ensembl	human	known	74_37	missense	15.38	33	6	SNP	0.999	T
FAM122A	116224	genome.wustl.edu	37	9	71395725	71395725	+	Missense_Mutation	SNP	G	G	T			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr9:71395725G>T	ENST00000394264.3	+	1	762	c.645G>T	c.(643-645)aaG>aaT	p.K215N	PIP5K1B_ENST00000265382.3_Intron|PIP5K1B_ENST00000541509.1_Intron	NM_138333.3	NP_612206.3	Q96E09	F122A_HUMAN	family with sequence similarity 122A	215										endometrium(1)|lung(2)	3						ATCAGCCAAAGAGATTTTTCC	0.448																																																	0													109.0	107.0	108.0					9																	71395725		2203	4300	6503	SO:0001583	missense	0			AK126379	CCDS6623.1	9q21.13	2011-02-10	2006-07-11	2006-07-11	ENSG00000187866	ENSG00000187866			23490	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 42"""	C9orf42		12477932	Standard	NM_138333		Approved	MGC17347	uc004agw.1	Q96E09	OTTHUMG00000019971	ENST00000394264.3:c.645G>T	9.37:g.71395725G>T	ENSP00000377807:p.Lys215Asn			Missense_Mutation	SNP	NULL	p.K215N	ENST00000394264.3	37	c.645	CCDS6623.1	9	.	.	.	.	.	.	.	.	.	.	G	15.61	2.885784	0.51908	.	.	ENSG00000187866	ENST00000394264;ENST00000377279	T	0.60171	0.21	4.42	3.52	0.40303	.	0.000000	0.85682	D	0.000000	T	0.70675	0.3251	M	0.73217	2.22	0.36818	D	0.886267	D	0.76494	0.999	D	0.78314	0.991	T	0.76440	-0.2958	10	0.72032	D	0.01	-59.0461	8.671	0.34149	0.1022:0.0:0.8978:0.0	.	215	Q96E09	F122A_HUMAN	N	215;199	ENSP00000377807:K215N	ENSP00000366492:K199N	K	+	3	2	FAM122A	70585545	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.408000	0.59761	1.470000	0.48102	0.563000	0.77884	AAG	FAM122A	-	NULL	ENSG00000187866		0.448	FAM122A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM122A	HGNC	protein_coding	OTTHUMT00000052556.1		0.00	34	0	G	NM_138333		71395725	+1			no_errors	ENST00000394264	ensembl	human	known	74_37	missense	5.56	51	3	SNP	1.000	T
ERICH6	131831	genome.wustl.edu	37	3	150421382	150421382	+	Missense_Mutation	SNP	C	C	T			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr3:150421382C>T	ENST00000295910.6	-	1	356	c.304G>A	c.(304-306)Gtc>Atc	p.V102I	RP11-103G8.2_ENST00000475393.1_RNA|RP11-103G8.2_ENST00000471093.1_RNA|FAM194A_ENST00000491361.1_Intron	NM_152394.3	NP_689607.2														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						CTAGGGCTGACGATGCTGGCT	0.627																																																	0													112.0	98.0	103.0					3																	150421382		2203	4300	6503	SO:0001583	missense	0																														ENST00000295910.6:c.304G>A	3.37:g.150421382C>T	ENSP00000295910:p.Val102Ile			Missense_Mutation	SNP	NULL	p.V102I	ENST00000295910.6	37	c.304	CCDS3151.2	3	.	.	.	.	.	.	.	.	.	.	C	21.0	4.077531	0.76528	.	.	ENSG00000163645	ENST00000295910;ENST00000313811;ENST00000474463;ENST00000498386	T;T;T	0.52526	2.37;0.8;0.66	3.29	-0.882	0.10604	.	1.290790	0.05767	N	0.606097	T	0.29716	0.0742	L	0.29908	0.895	0.09310	N	0.999992	B	0.23490	0.086	B	0.12837	0.008	T	0.12811	-1.0533	10	0.21014	T	0.42	-0.0049	3.0654	0.06213	0.1921:0.4588:0.0:0.3491	.	102	Q7L0X2	F194A_HUMAN	I	102;60;76;62	ENSP00000295910:V102I;ENSP00000419304:V76I;ENSP00000417780:V62I	ENSP00000295910:V102I	V	-	1	0	FAM194A	151904072	0.000000	0.05858	0.032000	0.17829	0.621000	0.37620	-0.154000	0.10130	-0.199000	0.10317	0.561000	0.74099	GTC	FAM194A	-	NULL	ENSG00000163645		0.627	FAM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM194A	HGNC	protein_coding	OTTHUMT00000257666.1		0.00	46	0	C			150421382	-1			no_errors	ENST00000295910	ensembl	human	known	74_37	missense	7.02	53	4	SNP	0.036	T
FAM230A	653203	genome.wustl.edu	37	22	20710091	20710091	+	Missense_Mutation	SNP	C	C	T	rs556038340	byFrequency	TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr22:20710091C>T	ENST00000434783.3	+	8	2007	c.1823C>T	c.(1822-1824)gCg>gTg	p.A608V	USP41_ENST00000486536.2_Intron|USP41_ENST00000454608.2_Intron					family with sequence similarity 230, member A																		CCGCCCAGGGCGTCGCTAACG	0.711													N|||	2	0.000399361	0.0	0.0014	5008	,	,		14263	0.0		0.0	False		,,,				2504	0.001																0																																										SO:0001583	missense	0			JX456222		22q11.21	2014-08-13			ENSG00000188280	ENSG00000188280			45045	other	unknown							Standard	XM_006724099		Approved	DGCR15			OTTHUMG00000150686	ENST00000434783.3:c.1823C>T	22.37:g.20710091C>T	ENSP00000463576:p.Ala608Val			Missense_Mutation	SNP	pfam_Ret-finger_pr-like_3_antisense,superfamily_Kinase-like_dom	p.A608V	ENST00000434783.3	37	c.1823		22																																																																																			FAM230A	-	superfamily_Kinase-like_dom	ENSG00000188280		0.711	FAM230A-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	FAM230A	HGNC	protein_coding	OTTHUMT00000319609.4	-	0.00	91	0	C			20710091	+1	tier1	-	no_errors	ENST00000434783	ensembl	human	known	74_37	missense	38.37	52	33	SNP	0.267	T
FAM47A	158724	genome.wustl.edu	37	X	34148795	34148795	+	Missense_Mutation	SNP	G	G	A	rs45535434		TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chrX:34148795G>A	ENST00000346193.3	-	1	1652	c.1601C>T	c.(1600-1602)cCt>cTt	p.P534L		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	534										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						AGTCTTGGGAGGCTCCGGACC	0.652																																																	0													44.0	49.0	47.0					X																	34148795		2198	4297	6495	SO:0001583	missense	0			BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.1601C>T	X.37:g.34148795G>A	ENSP00000345029:p.Pro534Leu		A8K8I9|Q8TAA0	Missense_Mutation	SNP	NULL	p.P534L	ENST00000346193.3	37	c.1601	CCDS43926.1	X	.	.	.	.	.	.	.	.	.	.	g	3.841	-0.033767	0.07543	.	.	ENSG00000185448	ENST00000346193	T	0.22743	1.94	0.691	-0.263	0.12954	.	.	.	.	.	T	0.13114	0.0318	L	0.33485	1.01	0.09310	N	1	B	0.15719	0.014	B	0.10450	0.005	T	0.32052	-0.9921	8	0.29301	T	0.29	.	.	.	.	rs45535434	534	Q5JRC9	FA47A_HUMAN	L	534	ENSP00000345029:P534L	ENSP00000345029:P534L	P	-	2	0	FAM47A	34058716	0.732000	0.28121	0.000000	0.03702	0.016000	0.09150	0.755000	0.26405	-0.227000	0.09884	-0.729000	0.03580	CCT	FAM47A	-	NULL	ENSG00000185448		0.652	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM47A	HGNC	protein_coding	OTTHUMT00000056205.1	-	0.00	78	0	G	NM_203408		34148795	-1	tier1	rs45535434	no_errors	ENST00000346193	ensembl	human	known	74_37	missense	13.54	83	13	SNP	0.002	A
FAT4	79633	genome.wustl.edu	37	4	126336053	126336053	+	Silent	SNP	T	T	C			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr4:126336053T>C	ENST00000394329.3	+	5	5948	c.5935T>C	c.(5935-5937)Ttg>Ctg	p.L1979L	FAT4_ENST00000335110.5_Silent_p.L277L	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1979	Cadherin 19. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CAACTCTCAATTGACTTATAG	0.373																																																	0													73.0	77.0	76.0					4																	126336053		2203	4300	6503	SO:0001819	synonymous_variant	0			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.5935T>C	4.37:g.126336053T>C			A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.L1979	ENST00000394329.3	37	c.5935	CCDS3732.3	4																																																																																			FAT4	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000196159		0.373	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT4	HGNC	protein_coding	OTTHUMT00000256765.2	-	0.00	52	0	T	NM_024582		126336053	+1	tier1	-	no_errors	ENST00000394329	ensembl	human	known	74_37	silent	14.06	55	9	SNP	0.837	C
FBXO41	150726	genome.wustl.edu	37	2	73487918	73487918	+	Missense_Mutation	SNP	G	G	A			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr2:73487918G>A	ENST00000521871.1	-	10	2655	c.2240C>T	c.(2239-2241)gCc>gTc	p.A747V	FBXO41_ENST00000520530.2_Missense_Mutation_p.A747V|FBXO41_ENST00000295133.5_Missense_Mutation_p.A808V			Q8TF61	FBX41_HUMAN	F-box protein 41	747										breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)	13						GACCCCCAGGGCCCGCAGGTG	0.662																																																	0													14.0	18.0	17.0					2																	73487918		1890	4096	5986	SO:0001583	missense	0			AB075820	CCDS46337.1, CCDS46337.2	2p13.2	2004-08-24				ENSG00000163013		"""F-boxes /  ""other"""""	29409	protein-coding gene	gene with protein product		609108				11853319	Standard	NM_001080410		Approved	KIAA1940, Fbx41	uc021vjh.1	Q8TF61		ENST00000521871.1:c.2240C>T	2.37:g.73487918G>A	ENSP00000428646:p.Ala747Val		G3V0Z7|Q2M1V8	Missense_Mutation	SNP	superfamily_F-box_dom	p.A808V	ENST00000521871.1	37	c.2423	CCDS46337.2	2	.	.	.	.	.	.	.	.	.	.	G	31	5.101858	0.94245	.	.	ENSG00000163013	ENST00000295133;ENST00000521871	T;T	0.51325	0.71;0.71	4.55	3.65	0.41850	.	0.117444	0.56097	D	0.000021	T	0.40767	0.1130	L	0.29908	0.895	0.80722	D	1	P	0.38395	0.629	B	0.42282	0.382	T	0.35375	-0.9791	10	0.49607	T	0.09	.	13.2228	0.59899	0.0:0.1614:0.8386:0.0	.	747	Q8TF61	FBX41_HUMAN	V	808;747	ENSP00000295133:A808V;ENSP00000428646:A747V	ENSP00000295133:A808V	A	-	2	0	FBXO41	73341426	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.107000	0.77047	1.115000	0.41800	0.561000	0.74099	GCC	FBXO41	-	NULL	ENSG00000163013		0.662	FBXO41-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FBXO41	HGNC	protein_coding	OTTHUMT00000377381.1	-	0.00	90	0	G			73487918	-1	tier1	-	no_errors	ENST00000295133	ensembl	human	known	74_37	missense	12.12	87	12	SNP	1.000	A
FBXO42	54455	genome.wustl.edu	37	1	16583183	16583184	+	Missense_Mutation	DNP	AG	AG	GA			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	A|G	A|G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr1:16583183_16583184AG>GA	ENST00000375592.3	-	5	789_790	c.573_574CT>TC	c.(571-576)ggCTgg>ggTCgg	p.W192R		NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	192										autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		GGCCGCGTCCAGCCACCAAACA	0.48																																																	0																																										SO:0001583	missense	0			BC063864	CCDS30613.1	1p36.23-p36.11	2008-02-05			ENSG00000037637	ENSG00000037637		"""F-boxes /  ""other"""""	29249	protein-coding gene	gene with protein product		609109				10718198	Standard	XM_006710698		Approved	KIAA1332, Fbx42	uc001ayg.3	Q6P3S6	OTTHUMG00000002218	ENST00000375592.3:c.573_574delinsGA	1.37:g.16583183_16583184delinsGA	ENSP00000364742:p.Trp192Arg		B3KP30|Q5TEU8|Q86XI0|Q8N3N4|Q8N5F8|Q9BRM0|Q9P2L4	Missense_Mutation|Silent	SNP	pfam_Kelch_2,pfam_Kelch_1,pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom	p.W192R|p.G191	ENST00000375592.3	37	c.574|c.573	CCDS30613.1	1																																																																																			FBXO42	-	NULL	ENSG00000037637		0.480	FBXO42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO42	HGNC	protein_coding	OTTHUMT00000006285.1	-	0.00	54|53	0	A|G			16583183|16583184	-1	tier1	-	no_errors	ENST00000375592	ensembl	human	known	74_37	missense|silent	12.82|14.10	68|67	10|11	SNP	1.000|0.999	G|A
FCHSD2	9873	genome.wustl.edu	37	11	72552577	72552577	+	Missense_Mutation	SNP	C	C	T			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr11:72552577C>T	ENST00000409418.4	-	18	2361	c.1978G>A	c.(1978-1980)Gac>Aac	p.D660N	FCHSD2_ENST00000409263.1_Missense_Mutation_p.D21N|FCHSD2_ENST00000311172.7_Missense_Mutation_p.D604N|ATG16L2_ENST00000534905.1_Intron|FCHSD2_ENST00000458644.2_Missense_Mutation_p.D524N|FCHSD2_ENST00000409314.1_Missense_Mutation_p.D684N	NM_014824.2	NP_055639.2	O94868	FCSD2_HUMAN	FCH and double SH3 domains 2	660										endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			GGAGGCTGGTCGTACAACGGC	0.622																																																	0													50.0	42.0	45.0					11																	72552577		2200	4293	6493	SO:0001583	missense	0			AB018312	CCDS8218.2	11q13.3	2008-02-05	2004-04-14	2004-04-16	ENSG00000137478	ENSG00000137478			29114	protein-coding gene	gene with protein product			"""SH3 multiple domains 3"""	SH3MD3		9872452, 15067381	Standard	NM_014824		Approved	KIAA0769	uc009ytl.3	O94868	OTTHUMG00000153082	ENST00000409418.4:c.1978G>A	11.37:g.72552577C>T	ENSP00000386722:p.Asp660Asn		B4DNI3|Q7L8J9|Q8WVM2|Q96FV7|Q9UF77	Missense_Mutation	SNP	pfam_SH3_domain,pfam_FCH_dom,pfam_SH3_2,superfamily_SH3_domain,smart_FCH_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,prints_SH3_domain	p.D660N	ENST00000409418.4	37	c.1978	CCDS8218.2	11	.	.	.	.	.	.	.	.	.	.	C	36	5.758966	0.96898	.	.	ENSG00000137478	ENST00000311172;ENST00000409314;ENST00000409418;ENST00000409263;ENST00000458644	T;T;T;T	0.15139	2.46;2.57;2.59;2.45	5.66	5.66	0.87406	Src homology-3 domain (1);	0.282098	0.32563	N	0.005924	T	0.11153	0.0272	N	0.24115	0.695	0.80722	D	1	P;B	0.36483	0.555;0.105	B;B	0.26693	0.072;0.007	T	0.18745	-1.0327	10	0.13853	T	0.58	-14.4262	18.7299	0.91731	0.0:1.0:0.0:0.0	.	524;660	E7ENZ2;O94868	.;FCSD2_HUMAN	N	604;684;660;21;524	ENSP00000308978:D604N;ENSP00000386987:D684N;ENSP00000386722:D660N;ENSP00000402972:D524N	ENSP00000308978:D604N	D	-	1	0	FCHSD2	72230225	1.000000	0.71417	0.961000	0.40146	0.951000	0.60555	7.247000	0.78257	2.661000	0.90470	0.655000	0.94253	GAC	FCHSD2	-	superfamily_SH3_domain	ENSG00000137478		0.622	FCHSD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FCHSD2	HGNC	protein_coding	OTTHUMT00000329429.2	-	0.00	80	0	C	NM_014824		72552577	-1	tier1	-	no_errors	ENST00000409418	ensembl	human	known	74_37	missense	25.58	64	22	SNP	1.000	T
FLG2	388698	genome.wustl.edu	37	1	152327323	152327323	+	Missense_Mutation	SNP	C	C	A			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr1:152327323C>A	ENST00000388718.5	-	3	3011	c.2939G>T	c.(2938-2940)gGc>gTc	p.G980V	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	980	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTTTCCTGAGCCTGACTCATG	0.498																																																	0													258.0	260.0	259.0					1																	152327323		2203	4300	6503	SO:0001583	missense	0			AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.2939G>T	1.37:g.152327323C>A	ENSP00000373370:p.Gly980Val		Q9H4U1	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin	p.G980V	ENST00000388718.5	37	c.2939	CCDS30861.1	1	.	.	.	.	.	.	.	.	.	.	C	9.831	1.188454	0.21954	.	.	ENSG00000143520	ENST00000388718	T	0.43294	0.95	3.96	2.02	0.26589	.	.	.	.	.	T	0.19167	0.0460	L	0.41961	1.31	0.09310	N	0.999995	D	0.54964	0.969	P	0.44732	0.459	T	0.03898	-1.0994	9	0.56958	D	0.05	1.3468	6.3918	0.21591	0.0:0.7628:0.0:0.2372	.	980	Q5D862	FILA2_HUMAN	V	980	ENSP00000373370:G980V	ENSP00000373370:G980V	G	-	2	0	FLG2	150593947	0.000000	0.05858	0.006000	0.13384	0.006000	0.05464	0.317000	0.19487	0.878000	0.35920	0.561000	0.74099	GGC	FLG2	-	NULL	ENSG00000143520		0.498	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG2	HGNC	protein_coding	OTTHUMT00000034018.5	-	0.00	160	0	C	NM_001014342		152327323	-1	tier1	-	no_errors	ENST00000388718	ensembl	human	known	74_37	missense	29.70	141	60	SNP	0.002	A
FCRL5	83416	genome.wustl.edu	37	1	157508906	157508906	+	Missense_Mutation	SNP	G	G	C	rs149906130	byFrequency	TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr1:157508906G>C	ENST00000361835.3	-	7	1529	c.1372C>G	c.(1372-1374)Cgc>Ggc	p.R458G	FCRL5_ENST00000368190.3_Missense_Mutation_p.R458G|FCRL5_ENST00000356953.4_Missense_Mutation_p.R458G|FCRL5_ENST00000368191.3_Missense_Mutation_p.R373G|FCRL5_ENST00000368189.3_Missense_Mutation_p.R458G	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	458	Ig-like C2-type 4.				negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				GCCTTACTGCGCTGGGGGCCA	0.582																																																	0													58.0	49.0	52.0					1																	157508906		2203	4300	6503	SO:0001583	missense	0			AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.1372C>G	1.37:g.157508906G>C	ENSP00000354691:p.Arg458Gly		A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Missense_Mutation	SNP	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.R458G	ENST00000361835.3	37	c.1372	CCDS1165.1	1	.	.	.	.	.	.	.	.	.	.	G	15.97	2.990090	0.54041	.	.	ENSG00000143297	ENST00000361835;ENST00000356953;ENST00000368190;ENST00000368191;ENST00000368189	T;T;T;T;T	0.12465	2.68;2.68;2.68;2.68;2.68	3.17	-4.55	0.03441	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.17492	0.0420	M	0.93420	3.415	0.09310	N	1	D;D;P;D;D;D	0.60160	0.985;0.957;0.873;0.96;0.987;0.982	P;P;P;P;P;P	0.62885	0.908;0.733;0.457;0.891;0.837;0.81	T	0.10660	-1.0620	9	0.23302	T	0.38	.	4.0358	0.09729	0.2181:0.0:0.2386:0.5433	.	489;373;458;458;458;458	B4DW39;F5GXJ2;Q96RD9-3;A6NJE8;Q96RD9-4;Q96RD9	.;.;.;.;.;FCRL5_HUMAN	G	458;458;458;373;458	ENSP00000354691:R458G;ENSP00000349434:R458G;ENSP00000357173:R458G;ENSP00000357174:R373G;ENSP00000357172:R458G	ENSP00000349434:R458G	R	-	1	0	FCRL5	155775530	0.000000	0.05858	0.000000	0.03702	0.661000	0.39034	-0.344000	0.07780	-0.827000	0.04278	0.462000	0.41574	CGC	FCRL5	-	smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000143297		0.582	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCRL5	HGNC	protein_coding	OTTHUMT00000046263.1	-	0.00	83	0	G	NM_031281		157508906	-1	tier1	-	no_errors	ENST00000356953	ensembl	human	known	74_37	missense	15.91	74	14	SNP	0.000	C
FLRT2	23768	genome.wustl.edu	37	14	86090075	86090075	+	3'UTR	DEL	A	A	-			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr14:86090075delA	ENST00000330753.4	+	0	2984				FLRT2_ENST00000554746.1_3'UTR	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TTTAAATCTTAAAAAAAAAAA	0.303																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"""Fibronectin type III domain containing"""	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.*234A>-	14.37:g.86090075delA			A0AV84|B7ZLP3	RNA	DEL	-	NULL	ENST00000330753.4	37	NULL	CCDS9877.1	14																																																																																			FLRT2	-	-	ENSG00000185070		0.303	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLRT2	HGNC	protein_coding	OTTHUMT00000413193.1		0.00	46	0	A			86090075	+1	tier1		no_errors	ENST00000553650	ensembl	human	putative	74_37	rna	20.45	35	9	DEL	1.000	-
FOLH1	2346	genome.wustl.edu	37	11	49204790	49204790	+	Silent	SNP	A	A	G	rs76509850	byFrequency	TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr11:49204790A>G	ENST00000256999.2	-	7	1091	c.831T>C	c.(829-831)taT>taC	p.Y277Y	FOLH1_ENST00000343844.4_5'UTR|FOLH1_ENST00000356696.3_Silent_p.Y277Y|FOLH1_ENST00000340334.7_Silent_p.Y262Y|FOLH1_ENST00000533034.1_Silent_p.Y262Y	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	277	NAALADase.				folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	GCCTATAAGCATATTCTGAAA	0.343																																																	0													61.0	61.0	61.0					11																	49204790		2201	4298	6499	SO:0001819	synonymous_variant	0			M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"""glutamate carboxylase II"", ""glutamate carboxypeptidase II"""	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.831T>C	11.37:g.49204790A>G			A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Silent	SNP	pfam_TFR-like_dimer_dom,pfam_Protease-assoc_domain,pfam_Peptidase_M28,superfamily_TFR-like_dimer_dom	p.Y277	ENST00000256999.2	37	c.831	CCDS7946.1	11																																																																																			FOLH1	-	NULL	ENSG00000086205		0.343	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOLH1	HGNC	protein_coding	OTTHUMT00000390896.1	-	0.00	60	0	A	NM_004476		49204790	-1	tier1	rs76509850	no_errors	ENST00000256999	ensembl	human	known	74_37	silent	6.54	100	7	SNP	1.000	G
MAD1L1	8379	genome.wustl.edu	37	7	2275007	2275007	+	5'Flank	SNP	T	T	A	rs374150448		TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr7:2275007T>A	ENST00000406869.1	-	0	0				MAD1L1_ENST00000402746.1_5'Flank|FTSJ2_ENST00000440306.2_3'UTR|FTSJ2_ENST00000407040.1_Missense_Mutation_p.D70V|FTSJ2_ENST00000242257.8_Missense_Mutation_p.D164V|MAD1L1_ENST00000399654.2_5'Flank|MAD1L1_ENST00000265854.7_5'Flank|FTSJ2_ENST00000486040.1_5'UTR			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)						mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|regulation of metaphase plate congression (GO:0090235)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|spindle (GO:0005819)				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		ATGATCGAGGTCCCGGAACCC	0.577																																																	0													88.0	81.0	83.0					7																	2275007		2203	4300	6503	SO:0001631	upstream_gene_variant	0			U33822	CCDS43539.1	7p22	2013-01-17	2001-11-28		ENSG00000002822	ENSG00000002822			6762	protein-coding gene	gene with protein product		602686	"""MAD1 (mitotic arrest deficient, yeast, homolog)-like 1"""			10049595, 9546394	Standard	XM_005249876		Approved	HsMAD1, TXBP181, MAD1, PIG9, TP53I9	uc003slg.1	Q9Y6D9	OTTHUMG00000151493		7.37:g.2275007T>A	Exception_encountered		B3KR41|Q13312|Q75MI0|Q86UM4|Q9UNH0	Missense_Mutation	SNP	pfam_rRNA_MeTrfase_FtsJ_dom,pirsf_rRNA-MeTfrase_E	p.D164V	ENST00000406869.1	37	c.491	CCDS43539.1	7	.	.	.	.	.	.	.	.	.	.	T	13.00	2.105619	0.37145	.	.	ENSG00000122687	ENST00000242257;ENST00000407040	T;T	0.32753	1.44;1.44	5.23	-7.32	0.01436	Ribosomal RNA methyltransferase RrmJ/FtsJ (1);	0.889011	0.09707	N	0.766242	T	0.25457	0.0619	L	0.41961	1.31	0.09310	N	0.999993	B	0.25609	0.13	B	0.38378	0.272	T	0.47235	-0.9133	10	0.40728	T	0.16	15.7668	7.3807	0.26854	0.0:0.206:0.4451:0.3489	.	164	Q9UI43	RRMJ2_HUMAN	V	164;70	ENSP00000242257:D164V;ENSP00000384423:D70V	ENSP00000242257:D164V	D	-	2	0	FTSJ2	2241533	0.361000	0.24972	0.000000	0.03702	0.847000	0.48162	1.115000	0.31209	-1.721000	0.01378	0.533000	0.62120	GAC	FTSJ2	-	pfam_rRNA_MeTrfase_FtsJ_dom,pirsf_rRNA-MeTfrase_E	ENSG00000122687		0.577	MAD1L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FTSJ2	HGNC	protein_coding	OTTHUMT00000322871.1	-	0.00	54	0	T	NM_003550		2275007	-1	tier1	-	no_errors	ENST00000242257	ensembl	human	known	74_37	missense	12.07	51	7	SNP	0.009	A
GCN1L1	10985	genome.wustl.edu	37	12	120578793	120578793	+	Missense_Mutation	SNP	T	T	G			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr12:120578793T>G	ENST00000300648.6	-	45	5876	c.5864A>C	c.(5863-5865)aAg>aCg	p.K1955T		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1955					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTCCCCTAACTTCCGCACAAG	0.542																																																	0													148.0	148.0	148.0					12																	120578793		1998	4186	6184	SO:0001583	missense	0			U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.5864A>C	12.37:g.120578793T>G	ENSP00000300648:p.Lys1955Thr		A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	pfam_DUF3554,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.K1955T	ENST00000300648.6	37	c.5864	CCDS41847.1	12	.	.	.	.	.	.	.	.	.	.	T	18.63	3.665360	0.67700	.	.	ENSG00000089154	ENST00000300648	T	0.64991	-0.13	5.11	5.11	0.69529	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.82495	0.5049	M	0.90019	3.08	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86621	0.1879	10	0.87932	D	0	.	14.9328	0.70929	0.0:0.0:0.0:1.0	.	1955	Q92616	GCN1L_HUMAN	T	1955	ENSP00000300648:K1955T	ENSP00000300648:K1955T	K	-	2	0	GCN1L1	119063176	1.000000	0.71417	1.000000	0.80357	0.438000	0.31896	7.390000	0.79816	1.926000	0.55796	0.379000	0.24179	AAG	GCN1L1	-	superfamily_ARM-type_fold	ENSG00000089154		0.542	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCN1L1	HGNC	protein_coding	OTTHUMT00000403592.1	-	0.00	52	0	T			120578793	-1	tier1	-	no_errors	ENST00000300648	ensembl	human	known	74_37	missense	9.43	48	5	SNP	1.000	G
GNB2L1	10399	genome.wustl.edu	37	5	180664622	180664622	+	Missense_Mutation	SNP	G	G	T			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr5:180664622G>T	ENST00000512805.1	-	7	1283	c.875C>A	c.(874-876)tCt>tAt	p.S292Y	GNB2L1_ENST00000376817.4_Missense_Mutation_p.S248Y|GNB2L1_ENST00000504726.1_Missense_Mutation_p.S61Y|GNB2L1_ENST00000511900.1_Missense_Mutation_p.S244Y|GNB2L1_ENST00000511566.1_Intron|GNB2L1_ENST00000514455.1_Missense_Mutation_p.S76Y	NM_006098.4	NP_006089.1	P63244	GBLP_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 2-like 1	292					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cell cycle (GO:0007049)|gastrulation (GO:0007369)|negative regulation of cell growth (GO:0030308)|negative regulation of gene expression (GO:0010629)|negative regulation of hydrogen peroxide-induced neuron death (GO:1903208)|negative regulation of phagocytosis (GO:0050765)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein tyrosine kinase activity (GO:0061099)|negative regulation of translation (GO:0017148)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP catabolic process (GO:0030822)|positive regulation of cell migration (GO:0030335)|positive regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051343)|positive regulation of gastrulation (GO:2000543)|positive regulation of GTPase activity (GO:0043547)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of protein phosphorylation (GO:0001934)|regulation of cell cycle (GO:0051726)|regulation of cell division (GO:0051302)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|regulation of protein localization (GO:0032880)|rhythmic process (GO:0048511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|phagocytic cup (GO:0001891)|small ribosomal subunit (GO:0015935)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|ion channel inhibitor activity (GO:0008200)|poly(A) RNA binding (GO:0044822)|protein complex scaffold (GO:0032947)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase inhibitor activity (GO:0030292)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|SH2 domain binding (GO:0042169)			lung(3)|skin(2)	5	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.101)|all cancers(165;0.11)		GCCATCAGCAGACCAGGCCAG	0.478																																																	0													135.0	120.0	125.0					5																	180664622		2203	4300	6503	SO:0001583	missense	0			M24194	CCDS34324.1	5q35.3	2013-01-10				ENSG00000204628		"""WD repeat domain containing"""	4399	protein-coding gene	gene with protein product	"""Receptor for Activated C Kinase 1"""	176981				8302854, 2499885	Standard	NM_006098		Approved	Gnb2-rs1, RACK1, H12.3	uc003mni.1	P63244		ENST00000512805.1:c.875C>A	5.37:g.180664622G>T	ENSP00000426909:p.Ser292Tyr		B3KTJ0|D3DWS0|P25388|P99049|Q53HU2|Q5J8M6|Q5VLR4|Q6FH47	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.S292Y	ENST00000512805.1	37	c.875	CCDS34324.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.2|21.2	4.117172|4.117172	0.77323|0.77323	.|.	.|.	ENSG00000204628|ENSG00000204628	ENST00000507756|ENST00000514455;ENST00000376817;ENST00000512805;ENST00000504726;ENST00000511900;ENST00000512968	.|T;T;T;T;T;D	.|0.84516	.|-0.21;-0.21;-0.21;-0.6;-0.21;-1.86	5.8|5.8	4.92|4.92	0.64577|0.64577	.|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	D|D	0.95085|0.95085	0.8408|0.8408	H|H	0.97390|0.97390	3.995|3.995	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|0.984;1.0;1.0;1.0	.|P;D;D;D	.|0.97110	.|0.875;1.0;0.998;1.0	D|D	0.96539|0.96539	0.9399|0.9399	5|10	.|0.87932	.|D	.|0	-2.4368|-2.4368	14.4598|14.4598	0.67440|0.67440	0.0:0.1483:0.8517:0.0|0.0:0.1483:0.8517:0.0	.|.	.|310;292;244;292	.|D6REE5;E9KL35;D6RAC2;P63244	.|.;.;.;GBLP_HUMAN	M|Y	223|76;248;292;61;244;310	.|ENSP00000426708:S76Y;ENSP00000366013:S248Y;ENSP00000426909:S292Y;ENSP00000426046:S61Y;ENSP00000422768:S244Y;ENSP00000425008:S310Y	.|ENSP00000366013:S248Y	L|S	-|-	1|2	2|0	GNB2L1|GNB2L1	180597228|180597228	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.958000|0.958000	0.62258|0.62258	7.664000|7.664000	0.83830|0.83830	1.426000|1.426000	0.47256|0.47256	0.655000|0.655000	0.94253|0.94253	CTG|TCT	GNB2L1	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000204628		0.478	GNB2L1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	GNB2L1	HGNC	protein_coding	OTTHUMT00000372943.2		0.00	31	0	G	NM_006098		180664622	-1			no_errors	ENST00000512805	ensembl	human	known	74_37	missense	7.69	48	4	SNP	1.000	T
GNGT1	2792	genome.wustl.edu	37	7	93540126	93540126	+	Silent	SNP	A	A	C			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr7:93540126A>C	ENST00000248572.5	+	3	269	c.121A>C	c.(121-123)Aga>Cga	p.R41R	GNGT1_ENST00000455502.1_3'UTR|GNGT1_ENST00000429473.1_Silent_p.R41R	NM_021955.3	NP_068774.1	P63211	GBG1_HUMAN	guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 1	41					cardiac muscle cell apoptotic process (GO:0010659)|cellular response to hypoxia (GO:0071456)|eye photoreceptor cell development (GO:0042462)|GTP catabolic process (GO:0006184)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	heterotrimeric G-protein complex (GO:0005834)|photoreceptor disc membrane (GO:0097381)|photoreceptor inner segment (GO:0001917)|plasma membrane (GO:0005886)	GTPase activity (GO:0003924)|signal transducer activity (GO:0004871)			endometrium(1)|large_intestine(1)|lung(3)|prostate(1)	6	all_cancers(62;2.39e-10)|all_epithelial(64;1.54e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			TGAAGAAGTAAGAGATTACGT	0.418																																																	0													95.0	95.0	95.0					7																	93540126		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS5633.1	7q21.3	2008-07-18			ENSG00000127928	ENSG00000127928			4411	protein-coding gene	gene with protein product		189970				8661128	Standard	NM_021955		Approved	GNG1	uc003unc.1	P63211	OTTHUMG00000022908	ENST00000248572.5:c.121A>C	7.37:g.93540126A>C			A4D1H2|O43835|Q08447|Q16026|Q6LCP6	Silent	SNP	pfam_G-protein_gamma-like_dom,superfamily_G-protein_gamma-like_dom,smart_G-protein_gamma-like_dom,pfscan_G-protein_gamma-like_dom,prints_Gprotein-gamma	p.R41	ENST00000248572.5	37	c.121	CCDS5633.1	7																																																																																			GNGT1	-	pfam_G-protein_gamma-like_dom,superfamily_G-protein_gamma-like_dom,smart_G-protein_gamma-like_dom,pfscan_G-protein_gamma-like_dom,prints_Gprotein-gamma	ENSG00000127928		0.418	GNGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNGT1	HGNC	protein_coding	OTTHUMT00000254718.2	-	0.00	40	0	A	NM_021955		93540126	+1	tier1	-	no_errors	ENST00000248572	ensembl	human	known	74_37	silent	23.08	30	9	SNP	0.458	C
GPC6	10082	genome.wustl.edu	37	13	94482417	94482417	+	Silent	SNP	A	A	G			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr13:94482417A>G	ENST00000377047.4	+	3	945	c.330A>G	c.(328-330)cgA>cgG	p.R110R	GPC6-AS2_ENST00000445540.1_RNA	NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	110					carbohydrate metabolic process (GO:0005975)|cell migration (GO:0016477)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				AATTTTTCCGAGAGCTCCTGG	0.388																																																	0													36.0	37.0	36.0					13																	94482417		2203	4299	6502	SO:0001819	synonymous_variant	0			AF111178	CCDS9469.1	13q32	2008-02-05			ENSG00000183098	ENSG00000183098		"""Proteoglycans / Cell Surface : Glypicans"""	4454	protein-coding gene	gene with protein product	"""glypican proteoglycan 6"""	604404				10329016	Standard	NM_005708		Approved		uc001vlt.3	Q9Y625	OTTHUMG00000017205	ENST00000377047.4:c.330A>G	13.37:g.94482417A>G			A8K279|Q96SG5|Q96SG8|Q9H1P4	Silent	SNP	pfam_Glypican	p.R110	ENST00000377047.4	37	c.330	CCDS9469.1	13																																																																																			GPC6	-	pfam_Glypican	ENSG00000183098		0.388	GPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPC6	HGNC	protein_coding	OTTHUMT00000045460.4	-	0.00	54	0	A	NM_005708		94482417	+1	tier1	-	no_errors	ENST00000377047	ensembl	human	known	74_37	silent	30.59	59	26	SNP	1.000	G
GPR179	440435	genome.wustl.edu	37	17	36499228	36499228	+	Silent	SNP	G	G	A			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr17:36499228G>A	ENST00000342292.4	-	1	465	c.445C>T	c.(445-447)Ctg>Ttg	p.L149L		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	149					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TTAAAGGTCAGCAAAGCCCTG	0.622																																																	0													53.0	56.0	55.0					17																	36499228		2087	4199	6286	SO:0001819	synonymous_variant	0				CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.445C>T	17.37:g.36499228G>A				Silent	SNP	pfam_GPCR_3_C,superfamily_Growth_fac_rcpt_N_dom,pfscan_GPCR_3_C	p.L149	ENST00000342292.4	37	c.445	CCDS42308.1	17																																																																																			GPR179	-	NULL	ENSG00000188888		0.622	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR179	HGNC	protein_coding	OTTHUMT00000255329.2	-	0.00	50	0	G			36499228	-1	tier1	-	no_errors	ENST00000342292	ensembl	human	known	74_37	silent	8.00	46	4	SNP	1.000	A
GPR78	27201	genome.wustl.edu	37	4	8584357	8584357	+	Silent	SNP	G	G	A	rs138639661	byFrequency	TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr4:8584357G>A	ENST00000382487.4	+	2	1185	c.768G>A	c.(766-768)ccG>ccA	p.P256P	GPR78_ENST00000509216.1_3'UTR	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	256					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.P256P(1)		central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						GCTTTGCCCCGTATGTCATGA	0.617													G|||	9	0.00179712	0.0061	0.0	5008	,	,		19435	0.0		0.001	False		,,,				2504	0.0																1	Substitution - coding silent(1)	prostate(1)						G		21,4385	29.9+/-59.1	0,21,2182	147.0	123.0	131.0		768	-4.7	0.0	4	dbSNP_134	131	6,8594	5.0+/-18.6	0,6,4294	no	coding-synonymous	GPR78	NM_080819.2		0,27,6476	AA,AG,GG		0.0698,0.4766,0.2076		256/364	8584357	27,12979	2203	4300	6503	SO:0001819	synonymous_variant	0			AF411107	CCDS3403.1	4p16.1	2012-08-21			ENSG00000155269	ENSG00000155269		"""GPCR / Class A : Orphans"""	4528	protein-coding gene	gene with protein product		606921				11574155	Standard	NM_080819		Approved		uc003glk.4	Q96P69	OTTHUMG00000128483	ENST00000382487.4:c.768G>A	4.37:g.8584357G>A			Q8NGV3	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.P256	ENST00000382487.4	37	c.768	CCDS3403.1	4																																																																																			GPR78	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000155269		0.617	GPR78-005	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR78	HGNC	protein_coding	OTTHUMT00000359201.1		0.00	30	0	G			8584357	+1			no_errors	ENST00000382487	ensembl	human	known	74_37	silent	5.36	53	3	SNP	0.986	A
HCAR2	338442	genome.wustl.edu	37	12	123187350	123187350	+	Missense_Mutation	SNP	G	G	A			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr12:123187350G>A	ENST00000328880.5	-	1	540	c.481C>T	c.(481-483)Cac>Tac	p.H161Y	HCAR1_ENST00000356987.2_Intron|RP11-324E6.6_ENST00000543611.1_lincRNA	NM_177551.3	NP_808219.1	Q8TDS4	HCAR2_HUMAN	hydroxycarboxylic acid receptor 2	161					negative regulation of lipid catabolic process (GO:0050995)|neutrophil apoptotic process (GO:0001781)|positive regulation of adiponectin secretion (GO:0070165)|positive regulation of neutrophil apoptotic process (GO:0033031)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nicotinic acid receptor activity (GO:0070553)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15					Niacin(DB00627)	TTCAGGAGGTGGACTGTCAGG	0.552																																																	0													114.0	99.0	104.0					12																	123187350		2203	4300	6503	SO:0001583	missense	0			AY148884	CCDS9235.1	12q24.31	2012-08-08	2011-05-30	2011-05-30	ENSG00000182782	ENSG00000182782		"""GPCR / Class A : Hydroxy-carboxylic acid receptors"""	24827	protein-coding gene	gene with protein product	"""niacin receptor 1"""	609163	"""G protein-coupled receptor 109A"""	GPR109A		21167710, 12522134, 12646212, 19141678, 18983141, 21454438	Standard	NM_177551		Approved	HCA2, HM74A, PUMAG, Puma-g, NIACR1	uc001ucx.1	Q8TDS4	OTTHUMG00000162722	ENST00000328880.5:c.481C>T	12.37:g.123187350G>A	ENSP00000375066:p.His161Tyr		A0PJL5|A7LGG3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.H161Y	ENST00000328880.5	37	c.481	CCDS9235.1	12	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.774925	0.00640	.	.	ENSG00000182782	ENST00000328880;ENST00000536970	T	0.36340	1.26	4.69	2.83	0.33086	GPCR, rhodopsin-like superfamily (1);	0.084915	0.47852	D	0.000206	T	0.17746	0.0426	N	0.04203	-0.255	0.24470	N	0.994394	B	0.24317	0.101	B	0.35688	0.208	T	0.18116	-1.0347	10	0.30854	T	0.27	-31.079	4.7929	0.13257	0.1866:0.179:0.6344:0.0	.	161	Q8TDS4	HCAR2_HUMAN	Y	161	ENSP00000375066:H161Y	ENSP00000375066:H161Y	H	-	1	0	HCAR2	121753303	0.981000	0.34729	0.712000	0.30502	0.384000	0.30261	1.996000	0.40776	0.876000	0.35872	0.655000	0.94253	CAC	HCAR2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000182782		0.552	HCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCAR2	HGNC	protein_coding	OTTHUMT00000370202.1	-	0.00	45	0	G	NM_177551		123187350	-1	tier1	-	no_errors	ENST00000328880	ensembl	human	known	74_37	missense	25.86	43	15	SNP	0.427	A
HCN1	348980	genome.wustl.edu	37	5	45267297	45267297	+	Missense_Mutation	SNP	A	A	C			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr5:45267297A>C	ENST00000303230.4	-	7	1734	c.1677T>G	c.(1675-1677)tgT>tgG	p.C559W		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	559					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						AGTAAAGACGACAATATGTAT	0.428																																																	0													160.0	145.0	150.0					5																	45267297		2203	4300	6503	SO:0001583	missense	0			AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.1677T>G	5.37:g.45267297A>C	ENSP00000307342:p.Cys559Trp			Missense_Mutation	SNP	pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG	p.C559W	ENST00000303230.4	37	c.1677	CCDS3952.1	5	.	.	.	.	.	.	.	.	.	.	A	18.64	3.667153	0.67814	.	.	ENSG00000164588	ENST00000303230	D	0.97352	-4.35	5.91	-5.92	0.02261	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.64402	D	0.000001	D	0.98820	0.9602	H	0.97918	4.105	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97730	1.0202	10	0.87932	D	0	.	18.1478	0.89663	0.3204:0.0:0.6796:0.0	.	559	O60741	HCN1_HUMAN	W	559	ENSP00000307342:C559W	ENSP00000307342:C559W	C	-	3	2	HCN1	45303054	0.470000	0.25854	0.906000	0.35671	0.760000	0.43138	-0.239000	0.08965	-0.984000	0.03507	-0.982000	0.02568	TGT	HCN1	-	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG	ENSG00000164588		0.428	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCN1	HGNC	protein_coding	OTTHUMT00000253847.1	-	0.00	73	0	A	NM_021072		45267297	-1	tier1	-	no_errors	ENST00000303230	ensembl	human	known	74_37	missense	25.56	67	23	SNP	0.959	C
HDGFRP2	84717	genome.wustl.edu	37	19	4493736	4493736	+	Missense_Mutation	SNP	G	G	A			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr19:4493736G>A	ENST00000301284.4	+	7	779	c.715G>A	c.(715-717)Gat>Aat	p.D239N	HDGFRP2_ENST00000586684.1_Missense_Mutation_p.D239N	NM_001001520.1|NM_032631.2	NP_001001520|NP_116020.1	Q7Z4V5	HDGR2_HUMAN		239	Ser-rich.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)										CTCCAAGGCCGATTCGGACGG	0.667																																																	0													12.0	16.0	15.0					19																	4493736		2083	4161	6244	SO:0001583	missense	0																														ENST00000301284.4:c.715G>A	19.37:g.4493736G>A	ENSP00000301284:p.Asp239Asn		I3L080|K7EQZ6|Q96GI5|Q9BW08	Missense_Mutation	SNP	pfam_LEDGF,pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom	p.D239N	ENST00000301284.4	37	c.715	CCDS42472.1	19	.	.	.	.	.	.	.	.	.	.	g	14.61	2.586838	0.46110	.	.	ENSG00000167674	ENST00000301284;ENST00000398364	T	0.52983	0.64	4.94	4.94	0.65067	.	0.261174	0.36268	U	0.002698	T	0.40171	0.1106	L	0.53249	1.67	0.25516	N	0.987417	P;P	0.40638	0.725;0.725	B;B	0.30029	0.11;0.11	T	0.49234	-0.8961	10	0.54805	T	0.06	.	14.8783	0.70513	0.0:0.0:1.0:0.0	.	239;239	C9JEE1;Q7Z4V5	.;HDGR2_HUMAN	N	239;225	ENSP00000301284:D239N	ENSP00000301284:D239N	D	+	1	0	AC011498.1	4444736	1.000000	0.71417	0.486000	0.27416	0.464000	0.32679	4.802000	0.62539	2.276000	0.75962	0.443000	0.29094	GAT	HDGFRP2	-	NULL	ENSG00000167674		0.667	HDGFRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HDGFRP2	Uniprot_gn	protein_coding	OTTHUMT00000458642.1	-	0.00	155	0	G			4493736	+1	tier1	-	no_errors	ENST00000301284	ensembl	human	known	74_37	missense	18.25	103	23	SNP	0.481	A
HEATR4	399671	genome.wustl.edu	37	14	73969644	73969644	+	Missense_Mutation	SNP	G	G	A			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr14:73969644G>A	ENST00000553558.1	-	11	2381	c.2060C>T	c.(2059-2061)gCg>gTg	p.A687V	HEATR4_ENST00000560393.1_Missense_Mutation_p.A640V|HEATR4_ENST00000334988.2_Missense_Mutation_p.A687V	NM_001220484.1	NP_001207413.1	Q86WZ0	HEAT4_HUMAN	HEAT repeat containing 4	687										breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		TTGCCCAAGCGCCTGTGCAGC	0.433																																																	0													148.0	130.0	136.0					14																	73969644		2203	4300	6503	SO:0001583	missense	0			BC047590	CCDS9815.1, CCDS9815.2	14q24.3	2013-09-20			ENSG00000187105	ENSG00000187105			16761	protein-coding gene	gene with protein product						15489334	Standard	NM_203309		Approved	MGC48595	uc021rwf.2	Q86WZ0	OTTHUMG00000171602	ENST00000553558.1:c.2060C>T	14.37:g.73969644G>A	ENSP00000450444:p.Ala687Val		B7Z7V9|E9KL41	Missense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold	p.A687V	ENST00000553558.1	37	c.2060	CCDS9815.2	14	.	.	.	.	.	.	.	.	.	.	G	13.12	2.143492	0.37825	.	.	ENSG00000187105	ENST00000553558;ENST00000334988	T	0.15952	2.38	5.33	5.33	0.75918	Armadillo-like helical (1);Armadillo-type fold (1);	0.250414	0.28322	N	0.015771	T	0.25606	0.0623	L	0.53249	1.67	0.21256	N	0.999747	D	0.60160	0.987	P	0.48189	0.57	T	0.09509	-1.0671	10	0.59425	D	0.04	-2.3496	15.9376	0.79723	0.0:0.0:1.0:0.0	.	687	Q86WZ0	HEAT4_HUMAN	V	687;640	ENSP00000450444:A687V	ENSP00000335447:A640V	A	-	2	0	HEATR4	73039397	0.971000	0.33674	0.117000	0.21633	0.042000	0.13812	5.905000	0.69893	2.493000	0.84123	0.455000	0.32223	GCG	HEATR4	-	superfamily_ARM-type_fold	ENSG00000187105		0.433	HEATR4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HEATR4	HGNC	protein_coding	OTTHUMT00000414422.2	-	0.00	54	0	G	NM_203309		73969644	-1	tier1	-	no_errors	ENST00000334988	ensembl	human	known	74_37	missense	23.88	51	16	SNP	0.297	A
HECW1	23072	genome.wustl.edu	37	7	43447182	43447182	+	Missense_Mutation	SNP	A	A	T			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr7:43447182A>T	ENST00000395891.2	+	8	1258	c.653A>T	c.(652-654)aAg>aTg	p.K218M	HECW1_ENST00000453890.1_Missense_Mutation_p.K218M|HECW1_ENST00000471043.1_3'UTR	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	218	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						ATGGGGTTGAAGAAAGGGATG	0.433																																																	0													43.0	40.0	41.0					7																	43447182		1840	4097	5937	SO:0001583	missense	0			AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.653A>T	7.37:g.43447182A>T	ENSP00000379228:p.Lys218Met		A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom	p.K218M	ENST00000395891.2	37	c.653	CCDS5469.2	7	.	.	.	.	.	.	.	.	.	.	A	26.5	4.740935	0.89573	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	T;T	0.70516	-0.49;-0.49	5.35	5.35	0.76521	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.101754	0.64402	D	0.000002	D	0.83622	0.5294	M	0.76574	2.34	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.85914	0.1442	10	0.87932	D	0	.	15.3221	0.74129	1.0:0.0:0.0:0.0	.	218;250;218	B4DH42;B3KR18;Q76N89	.;.;HECW1_HUMAN	M	218;218;217	ENSP00000379228:K218M;ENSP00000407774:K218M	ENSP00000265522:K217M	K	+	2	0	HECW1	43413707	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.855000	0.92236	2.013000	0.59113	0.460000	0.39030	AAG	HECW1	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	ENSG00000002746		0.433	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECW1	HGNC	protein_coding	OTTHUMT00000250893.2	-	0.00	57	0	A	NM_015052		43447182	+1	tier1	-	no_errors	ENST00000395891	ensembl	human	known	74_37	missense	43.08	37	28	SNP	1.000	T
HIRA	7290	genome.wustl.edu	37	22	19365551	19365551	+	Missense_Mutation	SNP	G	G	A			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr22:19365551G>A	ENST00000263208.5	-	14	1710	c.1454C>T	c.(1453-1455)tCg>tTg	p.S485L	HIRA_ENST00000340170.4_Missense_Mutation_p.S485L|HIRA_ENST00000541063.1_Missense_Mutation_p.S441L|HIRA_ENST00000546308.1_Missense_Mutation_p.S441L	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	485	Interaction with CCNA1.				anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|gastrulation (GO:0007369)|muscle cell differentiation (GO:0042692)|osteoblast differentiation (GO:0001649)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.S485L(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					CAGGGAGCCCGAGAGGGGGAT	0.537																																																	1	Substitution - Missense(1)	endometrium(1)											92.0	106.0	101.0					22																	19365551		2203	4300	6503	SO:0001583	missense	0			X75296	CCDS13759.1	22q11.2	2013-05-03	2013-05-03		ENSG00000100084	ENSG00000100084		"""WD repeat domain containing"""	4916	protein-coding gene	gene with protein product	"""DiGeorge critical region gene 1"""	600237	"""HIR (histone cell cycle regulation defective) homolog A (S. cerevisiae)"", ""HIR histone cell cycle regulation defective homolog A (S. cerevisiae)"""	TUPLE1		8111380, 7633437, 9731536	Standard	NM_003325		Approved	DGCR1, TUP1	uc002zpf.1	P54198	OTTHUMG00000150134	ENST00000263208.5:c.1454C>T	22.37:g.19365551G>A	ENSP00000263208:p.Ser485Leu		Q05BU9|Q8IXN2	Missense_Mutation	SNP	pfam_Hira,pfam_WD40_repeat,pfam_HIRA_B_motif,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S485L	ENST00000263208.5	37	c.1454	CCDS13759.1	22	.	.	.	.	.	.	.	.	.	.	G	16.20	3.055765	0.55325	.	.	ENSG00000100084	ENST00000340170;ENST00000263208;ENST00000541063;ENST00000546308	T;T;T;T	0.70986	-0.34;-0.53;-0.37;-0.32	5.28	5.28	0.74379	.	0.290510	0.31347	N	0.007808	T	0.60170	0.2248	N	0.24115	0.695	0.80722	D	1	B;B;B	0.14012	0.004;0.009;0.002	B;B;B	0.12156	0.003;0.007;0.001	T	0.53078	-0.8489	10	0.31617	T	0.26	-8.9801	19.1181	0.93350	0.0:0.0:1.0:0.0	.	441;485;485	F5H4M2;P54198-2;P54198	.;.;HIRA_HUMAN	L	485;485;441;441	ENSP00000345350:S485L;ENSP00000263208:S485L;ENSP00000446073:S441L;ENSP00000441870:S441L	ENSP00000263208:S485L	S	-	2	0	HIRA	17745551	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	4.756000	0.62205	2.756000	0.94617	0.655000	0.94253	TCG	HIRA	-	NULL	ENSG00000100084		0.537	HIRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIRA	HGNC	protein_coding	OTTHUMT00000316488.2	-	0.00	45	0	G	NM_003325		19365551	-1	tier1	-	no_errors	ENST00000263208	ensembl	human	known	74_37	missense	20.69	23	6	SNP	1.000	A
HIST1H1B	3009	genome.wustl.edu	37	6	27835245	27835245	+	Silent	SNP	C	C	T			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr6:27835245C>T	ENST00000331442.3	-	1	114	c.63G>A	c.(61-63)aaG>aaA	p.K21K		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	21					chromatin organization (GO:0006325)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleosome assembly (GO:0006334)|positive regulation of cell growth (GO:0030307)|positive regulation of histone H3-K9 methylation (GO:0051574)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						TTGCCTTCTTCTTAGCCGGGG	0.592																																																	0													25.0	30.0	28.0					6																	27835245		2196	4282	6478	SO:0001819	synonymous_variant	0			AF531304	CCDS4635.1	6p22.1	2012-05-04	2006-10-11	2003-02-14	ENSG00000184357	ENSG00000184357		"""Histones / Replication-dependent"""	4719	protein-coding gene	gene with protein product		142711	"""H1 histone family, member 5"", ""histone 1, H1b"""	H1F5		9031620, 9119399, 12408966	Standard	NM_005322		Approved	H1.5, H1b, H1s-3	uc003njx.3	P16401	OTTHUMG00000016139	ENST00000331442.3:c.63G>A	6.37:g.27835245C>T			Q14529|Q3MJ42	Silent	SNP	pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5	p.K21	ENST00000331442.3	37	c.63	CCDS4635.1	6																																																																																			HIST1H1B	-	NULL	ENSG00000184357		0.592	HIST1H1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H1B	HGNC	protein_coding	OTTHUMT00000043371.1	-	0.00	89	0	C	NM_005322		27835245	-1	tier1	-	no_errors	ENST00000331442	ensembl	human	known	74_37	silent	36.89	65	38	SNP	1.000	T
HS3ST1	9957	genome.wustl.edu	37	4	11400914	11400914	+	Missense_Mutation	SNP	G	G	T			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr4:11400914G>T	ENST00000002596.5	-	2	1890	c.716C>A	c.(715-717)cCg>cAg	p.P239Q		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1	239					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)|sulfotransferase activity (GO:0008146)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						ATTGATCTGCGGCGACAGCTT	0.562																																																	0													41.0	42.0	42.0					4																	11400914		2203	4300	6503	SO:0001583	missense	0			AF019386	CCDS3408.1	4p16	2008-02-05			ENSG00000002587	ENSG00000002587	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5194	protein-coding gene	gene with protein product		603244				9988767	Standard	NM_005114		Approved	3OST1	uc003gmq.3	O14792	OTTHUMG00000090547	ENST00000002596.5:c.716C>A	4.37:g.11400914G>T	ENSP00000002596:p.Pro239Gln		B3KUA6|Q6PEY8	Missense_Mutation	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.P239Q	ENST00000002596.5	37	c.716	CCDS3408.1	4	.	.	.	.	.	.	.	.	.	.	G	21.6	4.178237	0.78564	.	.	ENSG00000002587	ENST00000002596	D	0.82081	-1.57	5.41	5.41	0.78517	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.91707	0.7378	M	0.83312	2.635	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.91470	0.5196	10	0.48119	T	0.1	.	18.549	0.91057	0.0:0.0:1.0:0.0	.	239	O14792	HS3S1_HUMAN	Q	239	ENSP00000002596:P239Q	ENSP00000002596:P239Q	P	-	2	0	HS3ST1	11010012	1.000000	0.71417	0.996000	0.52242	0.773000	0.43773	9.813000	0.99286	2.687000	0.91594	0.655000	0.94253	CCG	HS3ST1	-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	ENSG00000002587		0.562	HS3ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HS3ST1	HGNC	protein_coding	OTTHUMT00000207073.3		0.00	36	0	G	NM_005114		11400914	-1			no_errors	ENST00000002596	ensembl	human	known	74_37	missense	9.09	40	4	SNP	1.000	T
HUS1B	135458	genome.wustl.edu	37	6	656472	656472	+	Missense_Mutation	SNP	C	C	T			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr6:656472C>T	ENST00000380907.2	-	1	491	c.473G>A	c.(472-474)cGc>cAc	p.R158H	EXOC2_ENST00000230449.4_Intron|EXOC2_ENST00000448181.3_Intron	NM_148959.3	NP_683762.2	Q8NHY5	HUS1B_HUMAN	HUS1 checkpoint homolog b (S. pombe)	158					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)	checkpoint clamp complex (GO:0030896)|nucleolus (GO:0005730)				endometrium(3)|large_intestine(1)|lung(7)	11	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)		GCGCGGCAGGCGGATGCTCGC	0.687																																																	0													58.0	63.0	61.0					6																	656472		2197	4285	6482	SO:0001583	missense	0			AF508547	CCDS4470.1	6p25.3	2008-08-08	2001-11-28		ENSG00000188996	ENSG00000188996			16485	protein-coding gene	gene with protein product		609713	"""HUS1 (S. pombe) checkpoint homolog b"""			11944979	Standard	NM_148959		Approved		uc003mtg.3	Q8NHY5	OTTHUMG00000090059	ENST00000380907.2:c.473G>A	6.37:g.656472C>T	ENSP00000370293:p.Arg158His		Q5T4Z2	Missense_Mutation	SNP	pfam_Hus1/Mec3,pirsf_Cell_cycle_HUS1	p.R158H	ENST00000380907.2	37	c.473	CCDS4470.1	6	.	.	.	.	.	.	.	.	.	.	C	9.212	1.031269	0.19590	.	.	ENSG00000188996	ENST00000380907	T	0.11930	2.73	3.44	-2.58	0.06228	.	0.301070	0.27109	N	0.020894	T	0.00784	0.0026	N	0.00707	-1.245	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41088	-0.9528	10	0.15952	T	0.53	.	7.6602	0.28398	0.0:0.4675:0.0:0.5325	.	158	Q8NHY5	HUS1B_HUMAN	H	158	ENSP00000370293:R158H	ENSP00000370293:R158H	R	-	2	0	HUS1B	601472	0.005000	0.15991	0.000000	0.03702	0.001000	0.01503	0.237000	0.17985	-0.613000	0.05694	-0.414000	0.06135	CGC	HUS1B	-	pfam_Hus1/Mec3,pirsf_Cell_cycle_HUS1	ENSG00000188996		0.687	HUS1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUS1B	HGNC	protein_coding	OTTHUMT00000205617.2	-	0.00	41	0	C	NM_148959		656472	-1	tier1	-	no_errors	ENST00000380907	ensembl	human	known	74_37	missense	31.58	38	18	SNP	0.000	T
IKBKAP	8518	genome.wustl.edu	37	9	111665946	111665946	+	Silent	SNP	T	T	A			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr9:111665946T>A	ENST00000374647.5	-	15	1954	c.1647A>T	c.(1645-1647)tcA>tcT	p.S549S	IKBKAP_ENST00000537196.1_Silent_p.S200S	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	549					chromatin organization (GO:0006325)|immune response (GO:0006955)|positive regulation of cell migration (GO:0030335)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CCGCTGCAGATGAACTGACAA	0.378																																																	0													89.0	80.0	83.0					9																	111665946		2203	4299	6502	SO:0001819	synonymous_variant	0			AF044195	CCDS6773.1	9q31	2014-09-17	2003-12-02		ENSG00000070061	ENSG00000070061		"""Elongator acetyltransferase complex subunits"""	5959	protein-coding gene	gene with protein product	"""elongator acetyltransferase complex subunit 1"""	603722	"""dysautonomia (Riley-Day syndrome, hereditary sensory autonomic neuropathy type III)"""	DYS		9751059, 11179008	Standard	NM_003640		Approved	IKAP, TOT1, ELP1, IKI3	uc004bdm.4	O95163	OTTHUMG00000020465	ENST00000374647.5:c.1647A>T	9.37:g.111665946T>A			Q5JSV2|Q9H327|Q9UG87	Silent	SNP	pfam_IKI3,superfamily_ARM-type_fold,superfamily_UBA-like,pirsf_IKI3	p.S549	ENST00000374647.5	37	c.1647	CCDS6773.1	9																																																																																			IKBKAP	-	pfam_IKI3,pirsf_IKI3	ENSG00000070061		0.378	IKBKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IKBKAP	HGNC	protein_coding	OTTHUMT00000053574.1	-	0.00	37	0	T			111665946	-1	tier1	-	no_errors	ENST00000374647	ensembl	human	known	74_37	silent	42.22	26	19	SNP	0.393	A
ISLR2	57611	genome.wustl.edu	37	15	74426478	74426478	+	Silent	SNP	C	C	T			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr15:74426478C>T	ENST00000361742.3	+	4	2152	c.1383C>T	c.(1381-1383)aaC>aaT	p.N461N	ISLR2_ENST00000445793.1_Silent_p.N461N|ISLR2_ENST00000565540.1_Silent_p.N461N|ISLR2_ENST00000565159.1_Silent_p.N461N|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000419208.1_Silent_p.N461N|ISLR2_ENST00000453268.2_Silent_p.N461N|ISLR2_ENST00000435464.1_Silent_p.N461N	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	461					positive regulation of axon extension (GO:0045773)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						GCTGTGGCAACGGGGACCCCT	0.662																																																	0													33.0	35.0	34.0					15																	74426478		2196	4297	6493	SO:0001819	synonymous_variant	0				CCDS10259.1	15q24.1	2013-01-11			ENSG00000167178	ENSG00000167178		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29286	protein-coding gene	gene with protein product		614179				10819331, 12975309	Standard	NM_001130136		Approved	KIAA1465	uc010bjf.3	Q6UXK2	OTTHUMG00000137624	ENST00000361742.3:c.1383C>T	15.37:g.74426478C>T			A8K352|Q9P263	Silent	SNP	pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Ig-like_dom	p.N461	ENST00000361742.3	37	c.1383	CCDS10259.1	15																																																																																			ISLR2	-	NULL	ENSG00000167178		0.662	ISLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ISLR2	HGNC	protein_coding	OTTHUMT00000269046.1	-	0.00	28	0	C	NM_020851		74426478	+1	tier1	-	no_errors	ENST00000361742	ensembl	human	known	74_37	silent	21.43	22	6	SNP	0.008	T
KAT6B	23522	genome.wustl.edu	37	10	76781008	76781008	+	Missense_Mutation	SNP	G	G	T			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr10:76781008G>T	ENST00000287239.4	+	15	3475	c.2986G>T	c.(2986-2988)Gca>Tca	p.A996S	RP11-77G23.2_ENST00000413431.1_RNA|KAT6B_ENST00000372711.1_Missense_Mutation_p.A813S|KAT6B_ENST00000372714.1_Missense_Mutation_p.A704S|KAT6B_ENST00000372724.1_Missense_Mutation_p.A704S|KAT6B_ENST00000372725.1_Missense_Mutation_p.A704S|RP11-77G23.5_ENST00000436608.1_RNA|KAT6B_ENST00000490365.1_3'UTR	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	996	Catalytic.|Interaction with BRPF1.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										ttctaaTGCTGCAGTGTCTGA	0.398																																																	0													86.0	85.0	85.0					10																	76781008		2203	4300	6503	SO:0001583	missense	0			AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	17582	protein-coding gene	gene with protein product	"""MOZ-related factor"""	605880	"""MYST histone acetyltransferase (monocytic leukemia) 4"""	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.2986G>T	10.37:g.76781008G>T	ENSP00000287239:p.Ala996Ser		O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Missense_Mutation	SNP	pfam_MOZ_SAS,pfam_Znf_PHD-finger,pfam_Histone_H1/H5_H15,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5_H15,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.A996S	ENST00000287239.4	37	c.2986	CCDS7345.1	10	.	.	.	.	.	.	.	.	.	.	G	17.09	3.299669	0.60195	.	.	ENSG00000156650	ENST00000372725;ENST00000372724;ENST00000287239;ENST00000372714;ENST00000372711	T;T;T;T;T	0.77229	-1.08;-1.08;2.04;-1.08;-1.07	6.02	6.02	0.97574	.	0.137984	0.32703	N	0.005756	T	0.73869	0.3642	L	0.29908	0.895	0.44880	D	0.997893	B;P;D	0.53151	0.076;0.592;0.958	B;B;P	0.46917	0.054;0.397;0.531	T	0.72064	-0.4403	10	0.33141	T	0.24	-4.7642	18.7001	0.91617	0.0:0.0:1.0:0.0	.	813;704;996	Q8WYB5-2;Q8WYB5-3;Q8WYB5	.;.;KAT6B_HUMAN	S	704;704;996;704;813	ENSP00000361810:A704S;ENSP00000361809:A704S;ENSP00000287239:A996S;ENSP00000361799:A704S;ENSP00000361796:A813S	ENSP00000287239:A996S	A	+	1	0	KAT6B	76451014	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.197000	0.89727	2.855000	0.98099	0.655000	0.94253	GCA	KAT6B	-	NULL	ENSG00000156650		0.398	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KAT6B	HGNC	protein_coding	OTTHUMT00000048771.1		0.00	48	0	G	NM_012330		76781008	+1			no_errors	ENST00000287239	ensembl	human	known	74_37	missense	5.97	63	4	SNP	1.000	T
NWD2	57495	genome.wustl.edu	37	4	37445228	37445228	+	Missense_Mutation	SNP	C	C	T			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr4:37445228C>T	ENST00000309447.5	+	7	2466	c.1618C>T	c.(1618-1620)Cgg>Tgg	p.R540W		NM_001144990.1	NP_001138462.1	Q9ULI1	NWD2_HUMAN		540	NACHT.									breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(2)|skin(2)	16						CCGCTTTGTCCGGATAGTCCT	0.502																																																	0													39.0	35.0	37.0					4																	37445228		692	1591	2283	SO:0001583	missense	0																														ENST00000309447.5:c.1618C>T	4.37:g.37445228C>T	ENSP00000309501:p.Arg540Trp		A8MRU1	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.R540W	ENST00000309447.5	37	c.1618	CCDS47040.1	4	.	.	.	.	.	.	.	.	.	.	C	22.9	4.347693	0.82022	.	.	ENSG00000174145	ENST00000309447	D	0.83837	-1.77	6.06	4.32	0.51571	.	.	.	.	.	D	0.89118	0.6624	L	0.60455	1.87	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	D	0.89383	0.3683	9	0.66056	D	0.02	.	15.0102	0.71545	0.3717:0.6283:0.0:0.0	.	540	Q9ULI1	K1239_HUMAN	W	540	ENSP00000309501:R540W	ENSP00000309501:R540W	R	+	1	2	KIAA1239	37121623	0.991000	0.36638	0.733000	0.30861	0.989000	0.77384	2.916000	0.48813	0.858000	0.35431	0.650000	0.86243	CGG	KIAA1239	-	superfamily_P-loop_NTPase	ENSG00000174145		0.502	KIAA1239-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1239	HGNC	protein_coding	OTTHUMT00000347551.2	-	0.00	54	0	C			37445228	+1	tier1	-	no_errors	ENST00000309447	ensembl	human	known	74_37	missense	31.25	32	15	SNP	0.984	T
KIAA1407	57577	genome.wustl.edu	37	3	113753830	113753830	+	Missense_Mutation	SNP	C	C	T			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr3:113753830C>T	ENST00000295878.3	-	6	906	c.760G>A	c.(760-762)Gtg>Atg	p.V254M	KIAA1407_ENST00000545063.1_Missense_Mutation_p.V85M	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	254										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						CGCAGCTTCACCATCTCCCTT	0.483																																																	0													218.0	210.0	213.0					3																	113753830		2203	4300	6503	SO:0001583	missense	0			AF509494	CCDS2977.1	3q13.31	2005-01-10			ENSG00000163617	ENSG00000163617			29272	protein-coding gene	gene with protein product						10718198	Standard	NM_020817		Approved		uc003eax.3	Q8NCU4	OTTHUMG00000159337	ENST00000295878.3:c.760G>A	3.37:g.113753830C>T	ENSP00000295878:p.Val254Met		B4DYL1|Q9P2E0	Missense_Mutation	SNP	NULL	p.V254M	ENST00000295878.3	37	c.760	CCDS2977.1	3	.	.	.	.	.	.	.	.	.	.	C	22.1	4.238888	0.79800	.	.	ENSG00000163617	ENST00000295878;ENST00000545063;ENST00000491000	T;T;T	0.60424	0.97;0.19;0.37	5.78	4.91	0.64330	.	0.199214	0.43416	D	0.000580	T	0.73760	0.3628	M	0.71581	2.175	0.80722	D	1	D;D;D	0.89917	1.0;0.992;0.998	D;D;D	0.69824	0.966;0.943;0.966	T	0.76410	-0.2969	10	0.56958	D	0.05	.	14.6259	0.68621	0.0:0.9306:0.0:0.0694	.	241;130;254	C9JA89;B4DIZ9;Q8NCU4	.;.;K1407_HUMAN	M	254;85;241	ENSP00000295878:V254M;ENSP00000446381:V85M;ENSP00000418099:V241M	ENSP00000295878:V254M	V	-	1	0	KIAA1407	115236520	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.280000	0.43443	1.451000	0.47736	0.650000	0.86243	GTG	KIAA1407	-	NULL	ENSG00000163617		0.483	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1407	HGNC	protein_coding	OTTHUMT00000354724.2	-	0.00	101	0	C	NM_020817		113753830	-1	tier1	-	no_errors	ENST00000295878	ensembl	human	known	74_37	missense	17.00	83	17	SNP	1.000	T
KLF16	83855	genome.wustl.edu	37	19	1854587	1854587	+	Silent	SNP	G	G	A			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr19:1854587G>A	ENST00000250916.4	-	2	700	c.630C>T	c.(628-630)ccC>ccT	p.P210P	CTB-31O20.6_ENST00000592884.1_RNA|KLF16_ENST00000592313.1_5'UTR	NM_031918.3	NP_114124.1	Q9BXK1	KLF16_HUMAN	Kruppel-like factor 16	210	Pro/Ser-rich.				dopamine receptor signaling pathway (GO:0007212)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(1)	1		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTGGAAGCCGGGGTGGCGGC	0.741																																																	0													11.0	17.0	15.0					19																	1854587		2161	4226	6387	SO:0001819	synonymous_variant	0			AF327440	CCDS12075.1	19p13.3	2013-10-15			ENSG00000129911	ENSG00000129911		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	16857	protein-coding gene	gene with protein product		606139				11438660	Standard	NM_031918		Approved	NSLP2, BTEB4, DRRF	uc002luc.3	Q9BXK1	OTTHUMG00000179994	ENST00000250916.4:c.630C>T	19.37:g.1854587G>A				Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P210	ENST00000250916.4	37	c.630	CCDS12075.1	19																																																																																			KLF16	-	pfscan_Znf_C2H2	ENSG00000129911		0.741	KLF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLF16	HGNC	protein_coding	OTTHUMT00000449214.1	-	0.00	28	0	G			1854587	-1	tier1	-	no_errors	ENST00000250916	ensembl	human	known	74_37	silent	23.53	13	4	SNP	0.913	A
KLHL40	131377	genome.wustl.edu	37	3	42733464	42733464	+	Silent	SNP	G	G	A			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr3:42733464G>A	ENST00000287777.4	+	6	1945	c.1845G>A	c.(1843-1845)gtG>gtA	p.V615V		NM_152393.2	NP_689606.2	Q2TBA0	KLH40_HUMAN	kelch-like family member 40	615					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)											GGCTCAATGTGCTGTGCCTGA	0.582																																																	0													119.0	94.0	103.0					3																	42733464		2203	4300	6503	SO:0001819	synonymous_variant	0			AK056577	CCDS2703.1	3p21.33	2013-07-30	2013-02-22	2013-01-08	ENSG00000157119	ENSG00000157119		"""Kelch-like"", ""BTB/POZ domain containing"""	30372	protein-coding gene	gene with protein product	"""sarcosynapsin"", ""nemaline myopathy type 8"""	615340	"""kelch repeat and BTB (POZ) domain containing 5"", ""kelch-like 40 (Drosophila)"""	KBTBD5		23746549	Standard	NM_152393		Approved	SRYP, NEM8	uc003clv.1	Q2TBA0	OTTHUMG00000133045	ENST00000287777.4:c.1845G>A	3.37:g.42733464G>A			Q86SI1|Q96MR2	Silent	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.V615	ENST00000287777.4	37	c.1845	CCDS2703.1	3																																																																																			KLHL40	-	pirsf_Kelch-like_gigaxonin	ENSG00000157119		0.582	KLHL40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL40	HGNC	protein_coding	OTTHUMT00000256651.1	-	0.00	59	0	G	NM_152393		42733464	+1	tier1	-	no_errors	ENST00000287777	ensembl	human	known	74_37	silent	9.76	37	4	SNP	1.000	A
LAMA1	284217	genome.wustl.edu	37	18	7036038	7036038	+	Missense_Mutation	SNP	G	G	A	rs139065838		TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr18:7036038G>A	ENST00000389658.3	-	13	1880	c.1787C>T	c.(1786-1788)cCg>cTg	p.P596L		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	596	Laminin IV type A 1. {ECO:0000255|PROSITE-ProRule:PRU00458}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				CGTCTCTACCGGAATATCGTA	0.453													G|||	1	0.000199681	0.0	0.0	5008	,	,		22784	0.0		0.001	False		,,,				2504	0.0																0								G	LEU/PRO	2,4404	4.2+/-10.8	0,2,2201	181.0	129.0	147.0		1787	5.8	0.6	18	dbSNP_134	147	0,8600		0,0,4300	no	missense	LAMA1	NM_005559.3	98	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	596/3076	7036038	2,13004	2203	4300	6503	SO:0001583	missense	0			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.1787C>T	18.37:g.7036038G>A	ENSP00000374309:p.Pro596Leu			Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.P596L	ENST00000389658.3	37	c.1787	CCDS32787.1	18	.	.	.	.	.	.	.	.	.	.	G	27.3	4.819811	0.90873	4.54E-4	0.0	ENSG00000101680	ENST00000389658	T	0.18657	2.2	5.78	5.78	0.91487	Laminin B type IV (2);Laminin B, subgroup (1);	0.060321	0.64402	D	0.000003	T	0.31040	0.0784	N	0.20530	0.585	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.03852	-1.0998	10	0.09843	T	0.71	.	20.0086	0.97443	0.0:0.0:1.0:0.0	.	596	P25391	LAMA1_HUMAN	L	596	ENSP00000374309:P596L	ENSP00000374309:P596L	P	-	2	0	LAMA1	7026038	1.000000	0.71417	0.609000	0.28983	0.741000	0.42261	7.232000	0.78116	2.731000	0.93534	0.655000	0.94253	CCG	LAMA1	-	pfam_Laminin_B_type_IV,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV	ENSG00000101680		0.453	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA1	HGNC	protein_coding	OTTHUMT00000257369.1	-	0.00	66	0	G	NM_005559		7036038	-1	tier1	rs139065838	no_errors	ENST00000389658	ensembl	human	known	74_37	missense	20.00	52	13	SNP	1.000	A
LAMA3	3909	genome.wustl.edu	37	18	21481106	21481106	+	Missense_Mutation	SNP	G	G	T			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr18:21481106G>T	ENST00000313654.9	+	48	6261	c.6020G>T	c.(6019-6021)aGg>aTg	p.R2007M	LAMA3_ENST00000399516.3_Missense_Mutation_p.R1951M|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000269217.6_Missense_Mutation_p.R398M|LAMA3_ENST00000587184.1_Missense_Mutation_p.R342M	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2007	Domain II and I.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					AACCGGATAAGGACCTGGCAG	0.438																																																	0													63.0	64.0	64.0					18																	21481106		2203	4300	6503	SO:0001583	missense	0			L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.6020G>T	18.37:g.21481106G>T	ENSP00000324532:p.Arg2007Met		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Growth_fac_rcpt_N_dom,superfamily_Galactose-bd-like,superfamily_STAT_TF_coiled-coil,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.R2007M	ENST00000313654.9	37	c.6020	CCDS42419.1	18	.	.	.	.	.	.	.	.	.	.	G	12.18	1.860265	0.32884	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000269217	T;T;T	0.77877	2.85;-1.13;2.85	5.61	0.791	0.18619	Laminin I (1);	.	.	.	.	T	0.80793	0.4691	M	0.65975	2.015	0.09310	N	0.999997	P;P;P;P	0.49783	0.741;0.785;0.878;0.928	P;P;P;P	0.53360	0.621;0.695;0.724;0.724	T	0.70234	-0.4928	9	0.72032	D	0.01	.	9.2242	0.37395	0.5664:0.0:0.4336:0.0	.	342;398;1951;2007	Q6VU69;B0YJ33;Q6VU67;Q16787	.;.;.;LAMA3_HUMAN	M	2007;1951;398	ENSP00000324532:R2007M;ENSP00000382432:R1951M;ENSP00000269217:R398M	ENSP00000269217:R398M	R	+	2	0	LAMA3	19735104	0.131000	0.22433	0.137000	0.22149	0.167000	0.22549	0.231000	0.17872	0.139000	0.18822	-0.137000	0.14449	AGG	LAMA3	-	pfam_Laminin_I	ENSG00000053747		0.438	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA3	HGNC	protein_coding	OTTHUMT00000254824.3	-	0.00	44	0	G	NM_000227, NM_198129		21481106	+1	tier1	-	no_errors	ENST00000313654	ensembl	human	known	74_37	missense	5.63	67	4	SNP	0.185	T
LCN8	138307	genome.wustl.edu	37	9	139650580	139650580	+	5'UTR	SNP	G	G	A	rs570504094	byFrequency	TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr9:139650580G>A	ENST00000482893.1	-	0	965				LCN8_ENST00000371688.3_Intron			Q6JVE9	LCN8_HUMAN	lipocalin 8						response to hormone (GO:0009725)|transport (GO:0006810)	extracellular region (GO:0005576)				endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)	10	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;5.56e-06)|Epithelial(140;8.32e-05)		ggggaacagcgcagggaacag	0.602													g|||	2	0.000399361	0.0	0.0	5008	,	,		24000	0.0		0.0	False		,,,				2504	0.002																0																																										SO:0001623	5_prime_UTR_variant	0			AK124003	CCDS35183.1	9q34.3	2011-10-24	2005-01-11		ENSG00000204001	ENSG00000204001		"""Lipocalins"""	27038	protein-coding gene	gene with protein product		612902	"""chromosome 9 open reading frame 137"", ""lipocalin 5"""	LCN5			Standard	XM_005266058		Approved		uc004cjb.1	Q6JVE9	OTTHUMG00000020942	ENST00000482893.1:c.-1660C>T	9.37:g.139650580G>A			A1L4A8|A6NMN9|Q5T5R4	RNA	SNP	-	NULL	ENST00000482893.1	37	NULL		9																																																																																			LCN8	-	-	ENSG00000204001		0.602	LCN8-003	KNOWN	basic	processed_transcript	LCN8	HGNC	protein_coding	OTTHUMT00000055111.1	-	0.00	124	0	G	NM_178469		139650580	-1	tier1	-	no_errors	ENST00000482893	ensembl	human	known	74_37	rna	9.91	100	11	SNP	0.012	A
LCN12	286256	genome.wustl.edu	37	9	139848724	139848724	+	Intron	SNP	G	G	T			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr9:139848724G>T	ENST00000371633.3	+	5	550				LCN12_ENST00000466277.1_Intron	NM_178536.3	NP_848631.2	Q6JVE5	LCN12_HUMAN	lipocalin 12						lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			endometrium(1)|kidney(1)|lung(1)|prostate(2)	5	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		TGGTTCACCTGCAGGCATGCT	0.612																																																	0													20.0	21.0	20.0					9																	139848724		2027	4179	6206	SO:0001627	intron_variant	0			BC041168	CCDS7018.2	9q34	2011-10-24	2007-12-18		ENSG00000184925	ENSG00000184925		"""Lipocalins"""	28733	protein-coding gene	gene with protein product		612905				15363845	Standard	XM_005266068		Approved	MGC48935	uc004ckb.3	Q6JVE5	OTTHUMG00000020968	ENST00000371633.3:c.550+17G>T	9.37:g.139848724G>T			A2AMJ7	RNA	SNP	-	NULL	ENST00000371633.3	37	NULL	CCDS7018.2	9																																																																																			LCN12	-	-	ENSG00000184925		0.612	LCN12-015	KNOWN	basic|appris_principal|CCDS	protein_coding	LCN12	HGNC	protein_coding	OTTHUMT00000257990.1	-	0.00	49	0	G	NM_178536		139848724	+1	tier1	-	no_errors	ENST00000463714	ensembl	human	known	74_37	rna	7.14	52	4	SNP	0.001	T
LIX1L	128077	genome.wustl.edu	37	1	145498738	145498738	+	Missense_Mutation	SNP	C	C	T			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr1:145498738C>T	ENST00000369308.3	+	6	1048	c.974C>T	c.(973-975)gCt>gTt	p.A325V	RP11-315I20.1_ENST00000599469.1_RNA|RP11-315I20.1_ENST00000595518.1_RNA|RP11-315I20.1_ENST00000598354.1_RNA|RP11-315I20.1_ENST00000412239.1_RNA|RP11-315I20.1_ENST00000601726.1_RNA|RP11-315I20.1_ENST00000598103.1_RNA|RP11-315I20.1_ENST00000597144.1_RNA|RP11-315I20.1_ENST00000421764.1_RNA|RP11-315I20.1_ENST00000448561.1_RNA|RP11-315I20.1_ENST00000599626.1_RNA|RP11-315I20.1_ENST00000437797.1_RNA|RP11-315I20.1_ENST00000595494.1_RNA|RP11-315I20.1_ENST00000599147.1_RNA|RP11-315I20.1_ENST00000600340.1_RNA	NM_153713.1	NP_714924.1	Q8IVB5	LIX1L_HUMAN	Lix1 homolog (chicken) like	325										large_intestine(4)|lung(6)|ovary(2)|skin(1)	13	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CTTGTGCTGGCTGCTGGGCAG	0.522																																																	0													47.0	45.0	46.0					1																	145498738		2203	4300	6503	SO:0001583	missense	0			AK128733	CCDS72873.1	1q21.1	2014-07-15	2014-07-15		ENSG00000152022	ENSG00000271601			28715	protein-coding gene	gene with protein product			"""Lix1 homolog (mouse) like"", ""Lix1 homolog (chicken)-like"""			12477932	Standard	NM_153713		Approved	MGC46719	uc001enr.3	Q8IVB5	OTTHUMG00000013741	ENST00000369308.3:c.974C>T	1.37:g.145498738C>T	ENSP00000358314:p.Ala325Val		Q6AI36	Missense_Mutation	SNP	NULL	p.A325V	ENST00000369308.3	37	c.974	CCDS915.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.316169	0.95655	.	.	ENSG00000152022	ENST00000369308;ENST00000449167	.	.	.	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.76335	0.3973	M	0.77486	2.375	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.78658	-0.2118	9	0.87932	D	0	-13.6724	16.5103	0.84282	0.0:1.0:0.0:0.0	.	325	Q8IVB5	LIX1L_HUMAN	V	325;272	.	ENSP00000358314:A325V	A	+	2	0	LIX1L	144210095	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.465000	0.80898	2.758000	0.94735	0.563000	0.77884	GCT	LIX1L	-	NULL	ENSG00000152022		0.522	LIX1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIX1L	HGNC	protein_coding	OTTHUMT00000038513.1	-	0.00	43	0	C	NM_153713		145498738	+1	tier1	-	no_errors	ENST00000369308	ensembl	human	known	74_37	missense	5.80	65	4	SNP	1.000	T
LMNA	4000	genome.wustl.edu	37	1	156084801	156084803	+	In_Frame_Del	DEL	AGA	AGA	-	rs60872029		TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	AGA	AGA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr1:156084801_156084803delAGA	ENST00000368300.4	+	1	304_306	c.92_94delAGA	c.(91-96)gagaag>gag	p.K32del	LMNA_ENST00000368301.2_In_Frame_Del_p.K32del|LMNA_ENST00000361308.4_In_Frame_Del_p.K32del|LMNA_ENST00000368299.3_In_Frame_Del_p.K32del|LMNA_ENST00000347559.2_In_Frame_Del_p.K32del	NM_170707.3	NP_733821.1	P02545	LMNA_HUMAN	lamin A/C	32	Head.|Interaction with MLIP.		Missing (in EDMD2). {ECO:0000269|PubMed:14684700}.		activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular protein metabolic process (GO:0044267)|cellular response to hypoxia (GO:0071456)|endoplasmic reticulum unfolded protein response (GO:0030968)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic nuclear envelope reassembly (GO:0007084)|muscle organ development (GO:0007517)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|positive regulation of cell aging (GO:0090343)|protein localization to nucleus (GO:0034504)|regulation of cell migration (GO:0030334)|regulation of protein localization to nucleus (GO:1900180)|sterol regulatory element binding protein import into nucleus (GO:0035105)|ventricular cardiac muscle cell development (GO:0055015)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament (GO:0005882)|lamin filament (GO:0005638)|nuclear envelope (GO:0005635)|nuclear lamina (GO:0005652)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	structural molecule activity (GO:0005198)			NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10	Hepatocellular(266;0.158)					CGGCTGCAGGAGAAGGAGGACCT	0.695									Werner syndrome;Hutchinson-Gilford Progeria Syndrome																																								0			GRCh37	CD033712	LMNA	D	rs60872029																																			SO:0001651	inframe_deletion	0	Familial Cancer Database	WS, Adult Progeria;HGPS, Progeria	BC014507	CCDS1129.1, CCDS1131.1, CCDS58038.1, CCDS72941.1, CCDS72942.1	1q22	2014-09-17			ENSG00000160789	ENSG00000160789		"""Intermediate filaments type V, lamins"""	6636	protein-coding gene	gene with protein product		150330	"""cardiomyopathy, dilated 1A (autosomal dominant)"", ""limb girdle muscular dystrophy 1B (autosomal dominant)"", ""progeria 1 (Hutchinson-Gilford type)"", ""lamin A/C-like 1"""	LMN1, CMD1A, LGMD1B, PRO1, LMNL1		8511676, 8838815, 12702809	Standard	NM_005572		Approved	HGPS	uc001fni.3	P02545	OTTHUMG00000013961	ENST00000368300.4:c.92_94delAGA	1.37:g.156084801_156084803delAGA	ENSP00000357283:p.Lys32del		B4DI32|D3DVB0|D6RAQ3|E7EUI9|P02546|Q5I6Y4|Q5I6Y6|Q5TCJ2|Q5TCJ3|Q6UYC3|Q969I8|Q96JA2	In_Frame_Del	DEL	pfam_IF,pfam_Lamin_tail_dom,superfamily_Prefoldin	p.K32in_frame_del	ENST00000368300.4	37	c.92_94	CCDS1129.1	1																																																																																			LMNA	-	pfam_IF	ENSG00000160789		0.695	LMNA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMNA	HGNC	protein_coding	OTTHUMT00000039200.2		0.00	52	0	AGA	NM_170707		156084803	+1	tier1		no_errors	ENST00000368300	ensembl	human	known	74_37	in_frame_del	14.58	41	7	DEL	1.000:1.000:1.000	-
LRP2	4036	genome.wustl.edu	37	2	170025142	170025142	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr2:170025142C>A	ENST00000263816.3	-	61	11827	c.11542G>T	c.(11542-11544)Gaa>Taa	p.E3848*		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3848	LDL-receptor class A 34. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	TTTTTGCATTCGAACATAGTA	0.433																																																	0													102.0	91.0	95.0					2																	170025142		2203	4300	6503	SO:0001587	stop_gained	0				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.11542G>T	2.37:g.170025142C>A	ENSP00000263816:p.Glu3848*		O00711|Q16215	Nonsense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.E3848*	ENST00000263816.3	37	c.11542	CCDS2232.1	2	.	.	.	.	.	.	.	.	.	.	C	54	22.885718	0.99951	.	.	ENSG00000081479	ENST00000263816	.	.	.	5.82	4.93	0.64822	.	0.095809	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	16.7063	0.85373	0.0:0.8704:0.1296:0.0	.	.	.	.	X	3848	.	ENSP00000263816:E3848X	E	-	1	0	LRP2	169733388	1.000000	0.71417	0.981000	0.43875	0.837000	0.47467	6.038000	0.70964	1.407000	0.46875	0.561000	0.74099	GAA	LRP2	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt	ENSG00000081479		0.433	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	HGNC	protein_coding	OTTHUMT00000255231.2	-	0.00	65	0	C	NM_004525		170025142	-1	tier1	-	no_errors	ENST00000263816	ensembl	human	known	74_37	nonsense	17.46	52	11	SNP	1.000	A
LRRC43	254050	genome.wustl.edu	37	12	122684775	122684775	+	Missense_Mutation	SNP	G	G	T			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr12:122684775G>T	ENST00000339777.4	+	8	1417	c.1389G>T	c.(1387-1389)gaG>gaT	p.E463D	LRRC43_ENST00000425921.1_Missense_Mutation_p.E278D	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	463								p.E278D(1)|p.E463D(1)		NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		CCTGGGCTGAGGTCATCCCCT	0.652																																																	2	Substitution - Missense(2)	lung(2)											110.0	116.0	114.0					12																	122684775		2113	4219	6332	SO:0001583	missense	0			AK124107	CCDS45001.1	12q24.31	2014-09-11			ENSG00000158113	ENSG00000158113			28562	protein-coding gene	gene with protein product						12477932	Standard	NM_152759		Approved	MGC35140	uc009zxm.3	Q8N309	OTTHUMG00000168915	ENST00000339777.4:c.1389G>T	12.37:g.122684775G>T	ENSP00000344233:p.Glu463Asp		Q6ZVT9	Missense_Mutation	SNP	NULL	p.E463D	ENST00000339777.4	37	c.1389	CCDS45001.1	12	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.171489	0.00315	.	.	ENSG00000158113	ENST00000339777;ENST00000289014;ENST00000425921	T;T	0.56103	0.48;0.91	4.85	-5.55	0.02536	.	0.600314	0.16377	N	0.217057	T	0.17619	0.0423	N	0.03281	-0.365	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.33523	-0.9865	10	0.02654	T	1	-17.806	7.8039	0.29191	0.0:0.2489:0.3968:0.3543	.	463	Q8N309	LRC43_HUMAN	D	463;334;278	ENSP00000344233:E463D;ENSP00000416628:E278D	ENSP00000289014:E334D	E	+	3	2	LRRC43	121250728	0.000000	0.05858	0.001000	0.08648	0.033000	0.12548	-3.189000	0.00565	-1.155000	0.02822	-0.344000	0.07964	GAG	LRRC43	-	NULL	ENSG00000158113		0.652	LRRC43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC43	HGNC	protein_coding	OTTHUMT00000401589.1		0.00	31	0	G	NM_152759		122684775	+1			no_errors	ENST00000339777	ensembl	human	known	74_37	missense	5.41	35	2	SNP	0.003	T
LRRTM1	347730	genome.wustl.edu	37	2	80530905	80530905	+	Silent	SNP	G	G	A			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr2:80530905G>A	ENST00000295057.3	-	2	696	c.40C>T	c.(40-42)Ctg>Ttg	p.L14L	CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000466387.1_Intron|LRRTM1_ENST00000409148.1_Silent_p.L14L	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	14					exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						GGCCTCCTCAGCAGCCAGTAT	0.612										HNSCC(69;0.2)																																							0													25.0	28.0	27.0					2																	80530905		2012	4128	6140	SO:0001819	synonymous_variant	0			AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.40C>T	2.37:g.80530905G>A			A8K397|D6W5K1|Q96DN1	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.L14	ENST00000295057.3	37	c.40	CCDS1966.1	2																																																																																			LRRTM1	-	NULL	ENSG00000162951		0.612	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRTM1	HGNC	protein_coding	OTTHUMT00000313614.1		0.00	69	0	G	NM_178839		80530905	-1			no_errors	ENST00000295057	ensembl	human	known	74_37	silent	5.56	68	4	SNP	1.000	A
LRTM2	654429	genome.wustl.edu	37	12	1937326	1937326	+	Silent	SNP	G	G	T	rs572336742	byFrequency	TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr12:1937326G>T	ENST00000543818.1	+	3	854	c.12G>T	c.(10-12)ccG>ccT	p.P4P	LRTM2_ENST00000543730.1_Intron|LRTM2_ENST00000299194.1_Silent_p.P4P|LRTM2_ENST00000535041.1_Silent_p.P4P|CACNA2D4_ENST00000585708.1_Intron|CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000588077.1_Intron|CACNA2D4_ENST00000382722.5_Intron|CACNA2D4_ENST00000586184.1_Intron|CACNA2D4_ENST00000587995.1_Intron	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	4						integral component of membrane (GO:0016021)				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			TGCTGGCGCCGGGCAGCAGCC	0.726																																																	0													7.0	8.0	8.0					12																	1937326		1831	3509	5340	SO:0001819	synonymous_variant	0			AK095610	CCDS31726.1	12p13.33	2008-02-05				ENSG00000166159			32443	protein-coding gene	gene with protein product							Standard	NM_001039029		Approved		uc010sdx.1	Q8N967		ENST00000543818.1:c.12G>T	12.37:g.1937326G>T			A7E2U6	Silent	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.P4	ENST00000543818.1	37	c.12	CCDS31726.1	12																																																																																			LRTM2	-	NULL	ENSG00000166159		0.726	LRTM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	LRTM2	HGNC	protein_coding	OTTHUMT00000398055.1	-	0.00	18	0	G			1937326	+1	tier1	-	no_errors	ENST00000299194	ensembl	human	known	74_37	silent	26.92	19	7	SNP	0.032	T
MAMLD1	10046	genome.wustl.edu	37	X	149639339	149639339	+	Missense_Mutation	SNP	G	G	T			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chrX:149639339G>T	ENST00000370401.2	+	4	1804	c.1494G>T	c.(1492-1494)caG>caT	p.Q498H	MAMLD1_ENST00000426613.2_Missense_Mutation_p.Q473H|MAMLD1_ENST00000455522.2_5'UTR|MAMLD1_ENST00000432680.2_Missense_Mutation_p.Q473H|MAMLD1_ENST00000262858.5_Missense_Mutation_p.Q498H			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	498	Poly-Gln.				male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					agcagcagcagcagcagcagc	0.552																																																	0													44.0	43.0	43.0					X																	149639339		2203	4300	6503	SO:0001583	missense	0			U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"""chromosome X open reading frame 6"""	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.1494G>T	X.37:g.149639339G>T	ENSP00000359428:p.Gln498His		B2RCQ4|B4DG93|B9EGA5	Missense_Mutation	SNP	NULL	p.Q473H	ENST00000370401.2	37	c.1419	CCDS14693.2	X	.	.	.	.	.	.	.	.	.	.	G	7.078	0.569616	0.13560	.	.	ENSG00000013619	ENST00000370401;ENST00000432680;ENST00000262858;ENST00000426613	T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.38	4.24	-2.76	0.05896	.	0.573512	0.14585	N	0.310604	T	0.69043	0.3067	M	0.66939	2.045	0.20975	N	0.999818	D;D;D	0.59767	0.965;0.965;0.986	P;P;P	0.57152	0.748;0.66;0.814	T	0.63019	-0.6730	10	0.21014	T	0.42	-0.6792	9.8702	0.41168	0.7562:0.0:0.2438:0.0	.	473;473;498	Q13495-4;Q13495-3;Q13495	.;.;MAMD1_HUMAN	H	498;473;498;473	ENSP00000359428:Q498H;ENSP00000414517:Q473H;ENSP00000262858:Q498H;ENSP00000397438:Q473H	ENSP00000262858:Q498H	Q	+	3	2	MAMLD1	149389997	0.001000	0.12720	0.000000	0.03702	0.006000	0.05464	-0.366000	0.07563	-0.648000	0.05437	-0.268000	0.10319	CAG	MAMLD1	-	NULL	ENSG00000013619		0.552	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAMLD1	HGNC	protein_coding	OTTHUMT00000060844.2	-	0.00	16	0	G	NM_005491		149639339	+1	tier1	-	no_errors	ENST00000432680	ensembl	human	known	74_37	missense	33.33	10	5	SNP	0.000	T
MARCH11	441061	genome.wustl.edu	37	5	16091158	16091158	+	Missense_Mutation	SNP	T	T	G			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr5:16091158T>G	ENST00000332432.8	-	3	925	c.726A>C	c.(724-726)aaA>aaC	p.K242N	MARCH11_ENST00000505509.1_5'UTR	NM_001102562.1	NP_001096032.1	A6NNE9	MARHB_HUMAN	membrane-associated ring finger (C3HC4) 11	242					protein ubiquitination (GO:0016567)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1)	20						TCATCTGAACTTTCTCAACCA	0.408																																																	0													53.0	53.0	53.0					5																	16091158		1891	4102	5993	SO:0001583	missense	0			BC150513	CCDS47192.1	5p15.1	2013-01-09			ENSG00000183654	ENSG00000183654		"""RING-type (C3HC4) zinc fingers"", ""MARCH membrane-associated ring fingers"""	33609	protein-coding gene	gene with protein product		613338				17604280	Standard	NM_001102562		Approved	MARCH-XI	uc003jfo.2	A6NNE9	OTTHUMG00000161789	ENST00000332432.8:c.726A>C	5.37:g.16091158T>G	ENSP00000333181:p.Lys242Asn		A7E2S6	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH	p.K242N	ENST00000332432.8	37	c.726	CCDS47192.1	5	.	.	.	.	.	.	.	.	.	.	T	22.2	4.262399	0.80358	.	.	ENSG00000183654	ENST00000332432	T	0.55760	0.5	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.62171	0.2406	L	0.32530	0.975	0.80722	D	1	D	0.76494	0.999	D	0.67725	0.953	T	0.66093	-0.6009	10	0.87932	D	0	-12.1026	15.6674	0.77242	0.0:0.0:0.0:1.0	.	242	A6NNE9	MARHB_HUMAN	N	242	ENSP00000333181:K242N	ENSP00000333181:K242N	K	-	3	2	MARCH11	16144158	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.581000	0.60949	2.116000	0.64780	0.533000	0.62120	AAA	MARCH11	-	NULL	ENSG00000183654		0.408	MARCH11-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MARCH11	HGNC	protein_coding	OTTHUMT00000366096.2	-	0.00	78	0	T	NM_001102562		16091158	-1	tier1	-	no_errors	ENST00000332432	ensembl	human	known	74_37	missense	26.97	64	24	SNP	1.000	G
MAST1	22983	genome.wustl.edu	37	19	12977490	12977490	+	Missense_Mutation	SNP	G	G	T			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr19:12977490G>T	ENST00000251472.4	+	18	2092	c.2053G>T	c.(2053-2055)Gtg>Ttg	p.V685L		NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1											NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						GTATCACCACGTGAACTCCTA	0.607																																																	0													65.0	50.0	55.0					19																	12977490		2203	4300	6503	SO:0001583	missense	0			AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.2053G>T	19.37:g.12977490G>T	ENSP00000251472:p.Val685Leu			Missense_Mutation	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom	p.V685L	ENST00000251472.4	37	c.2053	CCDS32921.1	19	.	.	.	.	.	.	.	.	.	.	G	10.27	1.304005	0.23736	.	.	ENSG00000105613	ENST00000251472;ENST00000542153	T	0.23754	1.89	4.85	4.85	0.62838	AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.153997	0.43919	D	0.000515	T	0.10981	0.0268	N	0.10809	0.05	0.34685	D	0.725147	B	0.12013	0.005	B	0.15870	0.014	T	0.15665	-1.0429	10	0.02654	T	1	-29.0933	9.4805	0.38898	0.098:0.0:0.902:0.0	.	685	Q9Y2H9	MAST1_HUMAN	L	685	ENSP00000251472:V685L	ENSP00000251472:V685L	V	+	1	0	MAST1	12838490	0.006000	0.16342	0.999000	0.59377	0.985000	0.73830	0.061000	0.14366	2.410000	0.81850	0.563000	0.77884	GTG	MAST1	-	superfamily_Kinase-like_dom	ENSG00000105613		0.607	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAST1	HGNC	protein_coding	OTTHUMT00000451733.2	-	0.00	19	0	G	NM_014975		12977490	+1	tier1	-	no_errors	ENST00000251472	ensembl	human	known	74_37	missense	23.08	10	3	SNP	1.000	T
MBTPS1	8720	genome.wustl.edu	37	16	84094328	84094328	+	Missense_Mutation	SNP	G	G	T			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr16:84094328G>T	ENST00000343411.3	-	20	3158	c.2663C>A	c.(2662-2664)cCt>cAt	p.P888H		NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	888					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TCCACTGGGAGGGCGCTGGCG	0.582																																																	0													64.0	53.0	57.0					16																	84094328		2200	4300	6500	SO:0001583	missense	0			D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943			15456	protein-coding gene	gene with protein product		603355	"""membrane-bound transcription factor protease, site 1"""			9809072, 10944850	Standard	NM_003791		Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.2663C>A	16.37:g.84094328G>T	ENSP00000344223:p.Pro888His		A8K6V8|Q24JQ2|Q9UF67	Missense_Mutation	SNP	pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom,prints_Peptidase_S8_subtilisin-rel	p.P888H	ENST00000343411.3	37	c.2663	CCDS10941.1	16	.	.	.	.	.	.	.	.	.	.	G	15.78	2.935312	0.52866	.	.	ENSG00000140943	ENST00000343411;ENST00000347334	T	0.21543	2.0	5.49	5.49	0.81192	.	0.051135	0.85682	D	0.000000	T	0.19927	0.0479	L	0.42686	1.345	0.80722	D	1	P	0.38110	0.618	B	0.34652	0.187	T	0.03641	-1.1017	10	0.15066	T	0.55	-17.5264	19.3807	0.94532	0.0:0.0:1.0:0.0	.	888	Q14703	MBTP1_HUMAN	H	888;333	ENSP00000344223:P888H	ENSP00000344223:P888H	P	-	2	0	MBTPS1	82651829	1.000000	0.71417	0.989000	0.46669	0.723000	0.41478	9.814000	0.99346	2.575000	0.86900	0.561000	0.74099	CCT	MBTPS1	-	NULL	ENSG00000140943		0.582	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBTPS1	HGNC	protein_coding	OTTHUMT00000269080.2	-	0.00	44	0	G	NM_003791		84094328	-1	tier1	-	no_errors	ENST00000343411	ensembl	human	known	74_37	missense	7.02	52	4	SNP	1.000	T
MEOX1	4222	genome.wustl.edu	37	17	41738609	41738609	+	Silent	SNP	G	G	T			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr17:41738609G>T	ENST00000318579.4	-	1	713	c.294C>A	c.(292-294)gtC>gtA	p.V98V	MEOX1_ENST00000329168.3_Silent_p.V98V|MEOX1_ENST00000393661.2_5'UTR|MEOX1_ENST00000549132.1_Missense_Mutation_p.S69Y	NM_001040002.1|NM_004527.3	NP_001035091.1|NP_004518.1	P50221	MEOX1_HUMAN	mesenchyme homeobox 1	98					multicellular organismal development (GO:0007275)|somite specification (GO:0001757)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	8		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0753)		GGGCGTCTGAGACAGGGAAGT	0.682																																																	0													50.0	57.0	55.0					17																	41738609		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS11466.1, CCDS11467.1, CCDS42343.1	17q21.31	2014-07-15	2005-12-22					"""Homeoboxes / ANTP class : HOXL subclass"""	7013	protein-coding gene	gene with protein product		600147	"""mesenchyme homeo box 1"""			7987315	Standard	NM_013999		Approved	MOX1	uc002idz.3	P50221	OTTHUMG00000170513	ENST00000318579.4:c.294C>A	17.37:g.41738609G>T			A8K524|A8MWF9|Q15069	Missense_Mutation	SNP	superfamily_Homeodomain-like,pfscan_Homeobox_dom	p.S69Y	ENST00000318579.4	37	c.206	CCDS11466.1	17	.	.	.	.	.	.	.	.	.	.	G	7.139	0.581470	0.13686	.	.	ENSG00000005102	ENST00000549132	.	.	.	4.74	4.74	0.60224	.	.	.	.	.	T	0.62392	0.2424	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.65998	-0.6032	5	0.87932	D	0	-9.1485	6.1176	0.20136	0.0938:0.0:0.7044:0.2017	.	.	.	.	Y	69	.	ENSP00000449049:S69Y	S	-	2	0	MEOX1	39094135	0.463000	0.25799	0.984000	0.44739	0.780000	0.44128	-0.118000	0.10692	2.463000	0.83235	0.655000	0.94253	TCT	MEOX1	-	NULL	ENSG00000005102		0.682	MEOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEOX1	HGNC	protein_coding	OTTHUMT00000409452.1	-	0.00	40	0	G			41738609	-1	tier1	-	no_errors	ENST00000549132	ensembl	human	known	74_37	missense	6.90	54	4	SNP	0.976	T
METAP1	23173	genome.wustl.edu	37	4	99960579	99960579	+	Missense_Mutation	SNP	C	C	T			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr4:99960579C>T	ENST00000296411.6	+	5	529	c.395C>T	c.(394-396)tCa>tTa	p.S132L	METAP1_ENST00000544031.1_Missense_Mutation_p.S82L	NM_015143.2	NP_055958.2	P53582	MAP11_HUMAN	methionyl aminopeptidase 1	132					N-terminal protein amino acid modification (GO:0031365)|peptidyl-methionine modification (GO:0018206)|phototransduction, visible light (GO:0007603)|platelet aggregation (GO:0070527)|protein initiator methionine removal (GO:0070084)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of translation (GO:0006417)|rhodopsin mediated signaling pathway (GO:0016056)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic ribosome (GO:0022626)	aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metalloaminopeptidase activity (GO:0070006)|metalloexopeptidase activity (GO:0008235)			endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(123;3.12e-07)		AAATTACTCTCATCTGAAGAT	0.368																																																	0													144.0	135.0	138.0					4																	99960579		1817	4083	5900	SO:0001583	missense	0			D42084	CCDS47110.1	4q23	2010-08-20			ENSG00000164024	ENSG00000164024	3.4.11.18		15789	protein-coding gene	gene with protein product	"""Peptidase M"""	610151				7788527, 12144506	Standard	NM_015143		Approved	KIAA0094, MetAP1A, MAP1A	uc003huf.4	P53582	OTTHUMG00000161231	ENST00000296411.6:c.395C>T	4.37:g.99960579C>T	ENSP00000296411:p.Ser132Leu		B4E2E6	Missense_Mutation	SNP	pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,prints_Pept_M24_MAP,tigrfam_Pept_M24A_MAP1	p.S132L	ENST00000296411.6	37	c.395	CCDS47110.1	4	.	.	.	.	.	.	.	.	.	.	C	18.70	3.680575	0.68042	.	.	ENSG00000164024	ENST00000296411;ENST00000544031	.	.	.	4.94	4.94	0.65067	Peptidase M24, structural domain (2);	0.194226	0.45867	D	0.000327	T	0.69115	0.3075	M	0.78344	2.41	0.58432	D	0.999995	B	0.24882	0.113	B	0.25405	0.06	T	0.66909	-0.5804	8	.	.	.	-14.657	18.3537	0.90348	0.0:1.0:0.0:0.0	.	132	P53582	AMPM1_HUMAN	L	132;82	.	.	S	+	2	0	METAP1	100179602	0.986000	0.35501	1.000000	0.80357	0.993000	0.82548	3.948000	0.56660	2.574000	0.86865	0.650000	0.86243	TCA	METAP1	-	superfamily_Pept_M24_structural-domain,tigrfam_Pept_M24A_MAP1	ENSG00000164024		0.368	METAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METAP1	HGNC	protein_coding	OTTHUMT00000364237.1	-	0.00	58	0	C	NM_015143		99960579	+1	tier1	-	no_errors	ENST00000296411	ensembl	human	known	74_37	missense	29.41	36	15	SNP	1.000	T
METTL4	64863	genome.wustl.edu	37	18	2563854	2563854	+	Missense_Mutation	SNP	C	C	A			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr18:2563854C>A	ENST00000574538.1	-	3	1176	c.401G>T	c.(400-402)cGt>cTt	p.R134L	METTL4_ENST00000319888.6_Missense_Mutation_p.R134L|RP11-715F3.2_ENST00000583253.1_RNA	NM_022840.3	NP_073751.3	Q8N3J2	METL4_HUMAN	methyltransferase like 4	134					nucleobase-containing compound metabolic process (GO:0006139)		methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						ACATCTTTTACGCTTCTAAAG	0.294																																																	0													125.0	109.0	114.0					18																	2563854		2201	4299	6500	SO:0001583	missense	0				CCDS11826.1	18p11.31	2008-02-05			ENSG00000101574	ENSG00000101574			24726	protein-coding gene	gene with protein product						12477932	Standard	NM_022840		Approved	FLJ23017, HsT661	uc002klh.4	Q8N3J2	OTTHUMG00000131482	ENST00000574538.1:c.401G>T	18.37:g.2563854C>A	ENSP00000458290:p.Arg134Leu		B2RNA1|Q2TAA7|Q9H5U9	Missense_Mutation	SNP	pfam_MT-A70-like,pfscan_MT-A70-like	p.R134L	ENST00000574538.1	37	c.401	CCDS11826.1	18	.	.	.	.	.	.	.	.	.	.	C	19.14	3.770570	0.69992	.	.	ENSG00000101574	ENST00000319888	T	0.31769	1.48	5.42	2.65	0.31530	.	0.271361	0.31976	N	0.006771	T	0.46268	0.1384	M	0.67953	2.075	0.35006	D	0.756479	D	0.76494	0.999	P	0.60173	0.87	T	0.60757	-0.7200	10	0.72032	D	0.01	-1.8785	10.7252	0.46064	0.0:0.7906:0.0:0.2094	.	134	Q8N3J2	METL4_HUMAN	L	134	ENSP00000320349:R134L	ENSP00000320349:R134L	R	-	2	0	METTL4	2553854	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	1.760000	0.38430	0.677000	0.31305	0.591000	0.81541	CGT	METTL4	-	NULL	ENSG00000101574		0.294	METTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL4	HGNC	protein_coding	OTTHUMT00000254326.3		0.00	32	0	C	NM_022840		2563854	-1			no_errors	ENST00000574538	ensembl	human	known	74_37	missense	6.25	30	2	SNP	0.986	A
MFN2	9927	genome.wustl.edu	37	1	12064971	12064971	+	Missense_Mutation	SNP	G	G	T			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr1:12064971G>T	ENST00000235329.5	+	14	1804	c.1482G>T	c.(1480-1482)caG>caT	p.Q494H	MFN2_ENST00000444836.1_Missense_Mutation_p.Q494H	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2	494					apoptotic process (GO:0006915)|autophagy (GO:0006914)|blastocyst formation (GO:0001825)|blood coagulation (GO:0007596)|camera-type eye morphogenesis (GO:0048593)|mitochondrial fusion (GO:0008053)|mitochondrial membrane organization (GO:0007006)|mitochondrion localization (GO:0051646)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of smooth muscle cell proliferation (GO:0048662)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to mitochondrion (GO:0006626)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intrinsic component of mitochondrial outer membrane (GO:0031306)|microtubule cytoskeleton (GO:0015630)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		AGACCATGCAGCAGGACATGA	0.577																																																	0													43.0	37.0	39.0					1																	12064971		2203	4300	6503	SO:0001583	missense	0			AF036536	CCDS30587.1	1p36.22	2014-09-17			ENSG00000116688	ENSG00000116688			16877	protein-coding gene	gene with protein product		608507				12499352, 11181170	Standard	NM_014874		Approved	CPRP1, KIAA0214, MARF, CMT2A2	uc009vni.3	O95140	OTTHUMG00000002392	ENST00000235329.5:c.1482G>T	1.37:g.12064971G>T	ENSP00000235329:p.Gln494His		A8K1B3|O95572|Q5JXC3|Q5JXC4|Q9H131|Q9NSX8	Missense_Mutation	SNP	pfam_Fzo/mitofusin_HR2,pfam_Dynamin_GTPase,superfamily_P-loop_NTPase	p.Q494H	ENST00000235329.5	37	c.1482	CCDS30587.1	1	.	.	.	.	.	.	.	.	.	.	G	19.14	3.770400	0.69992	.	.	ENSG00000116688	ENST00000444836;ENST00000235329;ENST00000376337	D;D	0.88354	-2.37;-2.37	5.79	2.96	0.34315	.	0.000000	0.85682	D	0.000000	D	0.93609	0.7959	M	0.83118	2.625	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	D	0.92534	0.6036	10	0.59425	D	0.04	-13.0804	10.9946	0.47569	0.2029:0.0:0.7971:0.0	.	494	O95140	MFN2_HUMAN	H	494;494;192	ENSP00000416338:Q494H;ENSP00000235329:Q494H	ENSP00000235329:Q494H	Q	+	3	2	MFN2	11987558	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.078000	0.30754	0.379000	0.24794	-0.355000	0.07637	CAG	MFN2	-	superfamily_P-loop_NTPase	ENSG00000116688		0.577	MFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFN2	HGNC	protein_coding	OTTHUMT00000006859.2	-	0.00	30	0	G	NM_014874		12064971	+1	tier1	-	no_errors	ENST00000235329	ensembl	human	known	74_37	missense	8.89	41	4	SNP	1.000	T
MICAL2	9645	genome.wustl.edu	37	11	12241963	12241963	+	Silent	SNP	G	G	A	rs377568326		TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr11:12241963G>A	ENST00000256194.4	+	9	1452	c.1164G>A	c.(1162-1164)gcG>gcA	p.A388A	MICAL2_ENST00000379612.3_Silent_p.A388A|MICAL2_ENST00000537344.1_Silent_p.A388A|MICAL2_ENST00000342902.5_Silent_p.A388A|MICAL2_ENST00000527546.1_Silent_p.A388A	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	388	Monooxygenase domain. {ECO:0000250}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		AGCGGCAGGCGCACCAGCTGC	0.582																																																	0								G		2,4400	4.2+/-10.8	0,2,2199	64.0	58.0	60.0		1164	-10.8	0.0	11		60	0,8588		0,0,4294	no	coding-synonymous	MICAL2	NM_014632.2		0,2,6493	AA,AG,GG		0.0,0.0454,0.0154		388/1125	12241963	2,12988	2201	4294	6495	SO:0001819	synonymous_variant	0			AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.1164G>A	11.37:g.12241963G>A			B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Silent	SNP	pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,pfam_FAD_bind_dom,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like	p.A388	ENST00000256194.4	37	c.1164	CCDS7809.1	11																																																																																			MICAL2	-	superfamily_CH-domain	ENSG00000133816		0.582	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICAL2	HGNC	protein_coding	OTTHUMT00000385993.1		0.00	30	0	G	NM_014632		12241963	+1			no_errors	ENST00000256194	ensembl	human	known	74_37	silent	5.08	56	3	SNP	0.000	A
MMEL1	79258	genome.wustl.edu	37	1	2560819	2560821	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	CAG	CAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr1:2560819_2560821delCAG	ENST00000378412.3	-	2	264_266	c.103_105delCTG	c.(103-105)ctgdel	p.L35del	MMEL1_ENST00000502556.1_In_Frame_Del_p.L35del|MMEL1_ENST00000511099.1_5'Flank|MMEL1_ENST00000288709.6_In_Frame_Del_p.L26del			Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	35						endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		CAGCGGTCACcagcagcagcagc	0.739																																																	0										2,190,3148		0,0,2,18,154,1496						-0.2	0.9			12	5,359,6192		1,0,3,61,237,2976	no	codingComplex	MMEL1	NM_033467.3		1,0,5,79,391,4472	A1A1,A1A2,A1R,A2A2,A2R,RR		5.5522,5.7485,5.6184				7,549,9340				SO:0001651	inframe_deletion	0			AF336981	CCDS30569.1, CCDS30569.2	1p36	2008-02-05			ENSG00000142606	ENSG00000142606			14668	protein-coding gene	gene with protein product			"""membrane metallo-endopeptidase-like 2"""	MMEL2			Standard	NM_033467		Approved	SEP, NL1, NL2, NEPII	uc001ajy.2	Q495T6	OTTHUMG00000000846	ENST00000378412.3:c.103_105delCTG	1.37:g.2560828_2560830delCAG	ENSP00000367668:p.Leu35del		B9DI79|Q495T7|Q495T8|Q5SZS6|Q96PH9	In_Frame_Del	DEL	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C	p.L35in_frame_del	ENST00000378412.3	37	c.105_103	CCDS30569.2	1																																																																																			MMEL1	-	NULL	ENSG00000142606		0.739	MMEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMEL1	HGNC	protein_coding	OTTHUMT00000002395.2		0.00	13	0	CAG	NM_033467		2560821	-1			no_errors	ENST00000378412	ensembl	human	known	74_37	in_frame_del	22.22	7	2	DEL	0.932:0.974:0.981	0
MROH2B	133558	genome.wustl.edu	37	5	40999877	40999877	+	Missense_Mutation	SNP	T	T	G			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr5:40999877T>G	ENST00000399564.4	-	40	4937	c.4487A>C	c.(4486-4488)aAg>aCg	p.K1496T	MROH2B_ENST00000506092.2_Missense_Mutation_p.K1051T	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	1496																	CTGGTTTTTCTTGGCCTAGAA	0.473																																																	0													172.0	173.0	173.0					5																	40999877		1875	4112	5987	SO:0001583	missense	0				CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.4487A>C	5.37:g.40999877T>G	ENSP00000382476:p.Lys1496Thr		Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.K1496T	ENST00000399564.4	37	c.4487	CCDS47202.1	5	.	.	.	.	.	.	.	.	.	.	T	17.80	3.477794	0.63849	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.66099	-0.19;-0.19	4.95	2.54	0.30619	Armadillo-like helical (1);Armadillo-type fold (1);	0.120229	0.37715	N	0.001978	T	0.62282	0.2415	L	0.51422	1.61	0.34651	D	0.721696	D	0.60575	0.988	P	0.58721	0.844	T	0.64605	-0.6368	10	0.15499	T	0.54	.	6.5398	0.22375	0.0:0.1912:0.0:0.8088	.	1496	Q7Z745	HTRB2_HUMAN	T	1051;1201;1496	ENSP00000441504:K1051T;ENSP00000382476:K1496T	ENSP00000296803:K1201T	K	-	2	0	HEATR7B2	41035634	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	1.495000	0.35627	0.366000	0.24427	0.533000	0.62120	AAG	MROH2B	-	superfamily_ARM-type_fold	ENSG00000171495		0.473	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MROH2B	HGNC	protein_coding	OTTHUMT00000367558.2	-	0.00	65	0	T	NM_173489		40999877	-1	tier1	-	no_errors	ENST00000399564	ensembl	human	known	74_37	missense	28.00	54	21	SNP	1.000	G
MSMO1	6307	genome.wustl.edu	37	4	166254571	166254571	+	Missense_Mutation	SNP	G	G	T			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr4:166254571G>T	ENST00000261507.6	+	2	222	c.49G>T	c.(49-51)Gtg>Ttg	p.V17L	MSMO1_ENST00000504317.1_Missense_Mutation_p.V17L|MSMO1_ENST00000393766.2_Intron	NM_006745.4	NP_006736.1	Q15800	MSMO1_HUMAN	methylsterol monooxygenase 1	17					cholesterol biosynthetic process (GO:0006695)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C-4 methylsterol oxidase activity (GO:0000254)|iron ion binding (GO:0005506)										ATCCTTGGCTGTGGAATATGT	0.338																																																	0													78.0	77.0	77.0					4																	166254571		2203	4300	6503	SO:0001583	missense	0			U93162	CCDS3809.1, CCDS43280.1	4q32-q34	2013-03-04	2011-09-01	2011-09-01	ENSG00000052802	ENSG00000052802	1.14.13.72	"""Fatty acid hydroxylase domain containing"""	10545	protein-coding gene	gene with protein product		607545	"""sterol-C4-methyl oxidase-like"""	SC4MOL		8663358	Standard	NM_006745		Approved	DESP4, ERG25	uc003ire.3	Q15800	OTTHUMG00000161126	ENST00000261507.6:c.49G>T	4.37:g.166254571G>T	ENSP00000261507:p.Val17Leu		A8K8Q3|A8MYF6|D3DP32|Q32Q24	Missense_Mutation	SNP	pfam_Fatty_acid_hydroxylase	p.V17L	ENST00000261507.6	37	c.49	CCDS3809.1	4	.	.	.	.	.	.	.	.	.	.	G	16.53	3.149088	0.57151	.	.	ENSG00000052802	ENST00000261507;ENST00000507013;ENST00000504317;ENST00000505270	T;T;T	0.63096	-0.02;0.95;0.96	5.58	5.58	0.84498	.	0.056494	0.64402	D	0.000001	T	0.58949	0.2158	M	0.64997	1.995	0.80722	D	1	B;P	0.37441	0.083;0.595	B;B	0.34931	0.008;0.192	T	0.57974	-0.7718	10	0.10111	T	0.7	-1.1377	19.5644	0.95388	0.0:0.0:1.0:0.0	.	17;17	D6R952;Q15800	.;MSMO1_HUMAN	L	17	ENSP00000261507:V17L;ENSP00000425241:V17L;ENSP00000423633:V17L	ENSP00000261507:V17L	V	+	1	0	SC4MOL	166474021	1.000000	0.71417	1.000000	0.80357	0.737000	0.42083	9.869000	0.99810	2.633000	0.89246	0.561000	0.74099	GTG	MSMO1	-	NULL	ENSG00000052802		0.338	MSMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSMO1	HGNC	protein_coding	OTTHUMT00000363880.1	-	0.00	77	0	G	NM_006745		166254571	+1	tier1	-	no_errors	ENST00000261507	ensembl	human	known	74_37	missense	9.88	73	8	SNP	1.000	T
MTHFD1	4522	genome.wustl.edu	37	14	64882088	64882088	+	Missense_Mutation	SNP	A	A	G			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr14:64882088A>G	ENST00000545908.1	+	5	650	c.421A>G	c.(421-423)Att>Gtt	p.I141V	MTHFD1_ENST00000216605.8_Missense_Mutation_p.I85V			P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	85	Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.				folic acid metabolic process (GO:0046655)|folic acid-containing compound biosynthetic process (GO:0009396)|histidine biosynthetic process (GO:0000105)|methionine biosynthetic process (GO:0009086)|one-carbon metabolic process (GO:0006730)|purine nucleotide biosynthetic process (GO:0006164)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)|methylenetetrahydrofolate dehydrogenase [NAD(P)+] activity (GO:0004486)			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	Tetrahydrofolic acid(DB00116)	GATGAAGTACATTACATCTTT	0.338																																					Colon(18;220 581 13419 18191 31512)|GBM(126;343 1658 28700 44425 52519)												0													133.0	127.0	129.0					14																	64882088		2203	4300	6503	SO:0001583	missense	0			J04031	CCDS9763.1	14q24	2004-12-13			ENSG00000100714	ENSG00000100714	1.5.1.15, 3.5.4.-		7432	protein-coding gene	gene with protein product		172460		MTHFC, MTHFD		3053686, 2786332	Standard	NM_005956		Approved		uc001xhb.3	P11586	OTTHUMG00000141309	ENST00000545908.1:c.421A>G	14.37:g.64882088A>G	ENSP00000438588:p.Ile141Val		B2R5Y2|G3V2B8|Q86VC9|Q9BVP5	Missense_Mutation	SNP	pfam_Formate_THF_ligase,pfam_THF_DH/CycHdrlase_NAD-bd_dom,pfam_THF_DH/CycHdrlase_cat_dom,superfamily_P-loop_NTPase,prints_THF_DH/CycHdrlase	p.I85V	ENST00000545908.1	37	c.253		14	.	.	.	.	.	.	.	.	.	.	A	12.16	1.854953	0.32791	.	.	ENSG00000100714	ENST00000545908;ENST00000555709;ENST00000216605;ENST00000555252	T;T;T;T	0.27557	2.39;2.44;2.41;1.66	4.96	-1.76	0.08006	Tetrahydrofolate dehydrogenase/cyclohydrolase, conserved site (1);Tetrahydrofolate dehydrogenase/cyclohydrolase, catalytic domain (1);	0.345659	0.32106	N	0.006576	T	0.16257	0.0391	N	0.24115	0.695	0.09310	N	0.999998	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.10450	0.005;0.005;0.002	T	0.24225	-1.0166	10	0.21540	T	0.41	-2.4554	9.9189	0.41453	0.6271:0.0:0.3729:0.0	.	141;85;85	F5H2F4;P11586;G3V2B8	.;C1TC_HUMAN;.	V	141;85;141;65	ENSP00000438588:I141V;ENSP00000450560:I85V;ENSP00000216605:I141V;ENSP00000451309:I65V	ENSP00000216605:I85V	I	+	1	0	MTHFD1	63951841	0.516000	0.26218	0.000000	0.03702	0.816000	0.46133	1.249000	0.32839	-0.238000	0.09724	0.374000	0.22700	ATT	MTHFD1	-	pfam_THF_DH/CycHdrlase_cat_dom,prints_THF_DH/CycHdrlase	ENSG00000100714		0.338	MTHFD1-002	NOVEL	basic|exp_conf	protein_coding	MTHFD1	HGNC	protein_coding	OTTHUMT00000412167.1	-	0.00	62	0	A			64882088	+1	tier1	-	no_errors	ENST00000216605	ensembl	human	known	74_37	missense	6.90	54	4	SNP	0.028	G
MUC16	94025	genome.wustl.edu	37	19	9090016	9090016	+	Missense_Mutation	SNP	G	G	A			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr19:9090016G>A	ENST00000397910.4	-	1	2002	c.1799C>T	c.(1798-1800)aCc>aTc	p.T600I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	600	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AAACTGATGGGTGGTTGGGCC	0.547																																																	0													60.0	63.0	62.0					19																	9090016		2180	4281	6461	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.1799C>T	19.37:g.9090016G>A	ENSP00000381008:p.Thr600Ile		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.T600I	ENST00000397910.4	37	c.1799	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	4.506	0.093784	0.08632	.	.	ENSG00000181143	ENST00000397910	T	0.02472	4.28	1.68	1.68	0.24146	.	.	.	.	.	T	0.04363	0.0120	N	0.08118	0	.	.	.	D	0.69078	0.997	D	0.72982	0.979	T	0.42137	-0.9469	8	0.87932	D	0	.	6.8229	0.23866	0.0:0.0:1.0:0.0	.	600	B5ME49	.	I	600	ENSP00000381008:T600I	ENSP00000381008:T600I	T	-	2	0	MUC16	8951016	0.000000	0.05858	0.121000	0.21740	0.101000	0.19017	0.009000	0.13219	1.241000	0.43820	0.205000	0.17691	ACC	MUC16	-	NULL	ENSG00000181143		0.547	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0.00	55	0	G	NM_024690		9090016	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	24.44	34	11	SNP	0.146	A
MUC6	4588	genome.wustl.edu	37	11	1016221	1016224	+	Frame_Shift_Del	DEL	CAGA	CAGA	-			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	CAGA	CAGA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr11:1016221_1016224delCAGA	ENST00000421673.2	-	31	6627_6630	c.6577_6580delTCTG	c.(6577-6582)tctgcafs	p.SA2193fs		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2193	Ser-rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGAGGAGATGCAGACACTGATGCA	0.559																																																	0																																										SO:0001589	frameshift_variant	0			U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.6577_6580delTCTG	11.37:g.1016221_1016224delCAGA	ENSP00000406861:p.Ser2193fs		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Frame_Shift_Del	DEL	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C	p.S2193fs	ENST00000421673.2	37	c.6580_6577	CCDS44513.1	11																																																																																			MUC6	-	NULL	ENSG00000184956		0.559	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC6	HGNC	protein_coding	OTTHUMT00000382120.2		0.00	21	0	CAGA	XM_290540		1016224	-1	tier1		no_errors	ENST00000421673	ensembl	human	known	74_37	frame_shift_del	31.25	22	10	DEL	0.000:0.000:0.002:0.000	-
MUC6	4588	genome.wustl.edu	37	11	1026436	1026436	+	Missense_Mutation	SNP	G	G	A			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr11:1026436G>A	ENST00000421673.2	-	20	2487	c.2437C>T	c.(2437-2439)Ctc>Ttc	p.L813F		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	813					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TTCTCGTAGAGGCCCTCGGCG	0.667																																																	0													32.0	38.0	36.0					11																	1026436		2027	4175	6202	SO:0001583	missense	0			U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.2437C>T	11.37:g.1026436G>A	ENSP00000406861:p.Leu813Phe		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C	p.L813F	ENST00000421673.2	37	c.2437	CCDS44513.1	11	.	.	.	.	.	.	.	.	.	.	G	10.82	1.457352	0.26161	.	.	ENSG00000184956	ENST00000421673	D	0.90261	-2.64	3.48	3.48	0.39840	Protease inhibitor I8, cysteine-rich trypsin inhibitor-like (2);	.	.	.	.	D	0.91314	0.7261	L	0.31065	0.9	0.30382	N	0.781874	D	0.89917	1.0	D	0.79784	0.993	D	0.87098	0.2177	9	0.72032	D	0.01	.	10.8943	0.47012	0.0:0.0:0.8121:0.1879	.	813	Q6W4X9	MUC6_HUMAN	F	813	ENSP00000406861:L813F	ENSP00000406861:L813F	L	-	1	0	MUC6	1016436	0.975000	0.34042	0.729000	0.30791	0.079000	0.17450	2.312000	0.43726	1.950000	0.56595	0.561000	0.74099	CTC	MUC6	-	pfam_TIL_dom,superfamily_TIL_dom	ENSG00000184956		0.667	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC6	HGNC	protein_coding	OTTHUMT00000382120.2	-	0.00	47	0	G	XM_290540		1026436	-1	tier1	-	no_errors	ENST00000421673	ensembl	human	known	74_37	missense	25.93	40	14	SNP	0.965	A
MYO1C	4641	genome.wustl.edu	37	17	1382889	1382889	+	Silent	SNP	G	G	A	rs146685153		TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr17:1382889G>A	ENST00000575158.1	-	8	1088	c.912C>T	c.(910-912)acC>acT	p.T304T	MYO1C_ENST00000359786.5_Silent_p.T339T|MYO1C_ENST00000438665.2_Silent_p.T320T|MYO1C_ENST00000545534.2_Silent_p.T315T|MYO1C_ENST00000573198.1_5'UTR|MYO1C_ENST00000361007.2_Silent_p.T304T			Q12965	MYO1E_HUMAN	myosin IC	309	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CACTCACCCTGGTCAGATACT	0.662																																																	0								G	,,	0,4406		0,0,2203	63.0	47.0	52.0		1017,960,912	2.9	1.0	17	dbSNP_134	52	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	MYO1C	NM_001080779.1,NM_001080950.1,NM_033375.4	,,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,,	339/1064,320/1045,304/1029	1382889	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			X98507	CCDS11003.1, CCDS42226.1, CCDS45562.1	17p13.3	2011-09-27			ENSG00000197879	ENSG00000197879		"""Myosins / Myosin superfamily : Class I"""	7597	protein-coding gene	gene with protein product		606538				9119401	Standard	NM_001080779		Approved	myr2	uc002fsp.3	O00159	OTTHUMG00000090323	ENST00000575158.1:c.912C>T	17.37:g.1382889G>A			Q14778	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.T339	ENST00000575158.1	37	c.1017	CCDS11003.1	17																																																																																			MYO1C	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000197879		0.662	MYO1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO1C	HGNC	protein_coding	OTTHUMT00000438694.2	-	0.00	43	0	G			1382889	-1	tier1	rs146685153	no_errors	ENST00000359786	ensembl	human	known	74_37	silent	35.09	37	20	SNP	1.000	A
NDST2	8509	genome.wustl.edu	37	10	75565523	75565523	+	Missense_Mutation	SNP	C	C	T			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr10:75565523C>T	ENST00000309979.6	-	8	2124	c.1568G>A	c.(1567-1569)aGc>aAc	p.S523N	NDST2_ENST00000299641.4_Missense_Mutation_p.S400N|RP11-574K11.31_ENST00000603027.1_Missense_Mutation_p.S523N			P52849	NDST2_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2	523	Heparan sulfate N-deacetylase 2.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|hydrolase activity (GO:0016787)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30	Prostate(51;0.0112)					CATAAAGATGCTGATCTGTAA	0.522																																																	0													97.0	87.0	91.0					10																	75565523		2203	4300	6503	SO:0001583	missense	0			U36601	CCDS7335.1	10q22	2007-03-14			ENSG00000166507	ENSG00000166507		"""Sulfotransferases, membrane-bound"""	7681	protein-coding gene	gene with protein product		603268				9601056	Standard	NM_003635		Approved	NST2, HSST2	uc001jvk.2	P52849	OTTHUMG00000018489	ENST00000309979.6:c.1568G>A	10.37:g.75565523C>T	ENSP00000310657:p.Ser523Asn		Q2TB32|Q59H89	Missense_Mutation	SNP	pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.S523N	ENST00000309979.6	37	c.1568	CCDS7335.1	10	.	.	.	.	.	.	.	.	.	.	C	18.13	3.556042	0.65425	.	.	ENSG00000166507	ENST00000309979;ENST00000299641	T;T	0.47177	1.14;0.85	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.61912	0.2385	L	0.45228	1.405	0.80722	D	1	D;D;D	0.89917	0.976;1.0;0.976	P;D;P	0.76071	0.87;0.987;0.776	T	0.49670	-0.8915	10	0.17369	T	0.5	.	20.3854	0.98941	0.0:1.0:0.0:0.0	.	400;193;523	B4E139;B4DQU1;P52849	.;.;NDST2_HUMAN	N	523;400	ENSP00000310657:S523N;ENSP00000299641:S400N	ENSP00000299641:S400N	S	-	2	0	NDST2	75235529	1.000000	0.71417	1.000000	0.80357	0.721000	0.41392	7.818000	0.86416	2.825000	0.97269	0.655000	0.94253	AGC	NDST2	-	NULL	ENSG00000166507		0.522	NDST2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NDST2	HGNC	protein_coding	OTTHUMT00000048710.1		0.00	61	0	C	NM_003635		75565523	-1			no_errors	ENST00000309979	ensembl	human	known	74_37	missense	5.71	66	4	SNP	1.000	T
NEB	4703	genome.wustl.edu	37	2	152450810	152450810	+	Intron	SNP	C	C	T	rs527746468	byFrequency	TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr2:152450810C>T	ENST00000172853.10	-	77	11749				NEB_ENST00000397345.3_Missense_Mutation_p.R4743H|NEB_ENST00000604864.1_Missense_Mutation_p.R4743H|NEB_ENST00000603639.1_Missense_Mutation_p.R4743H|NEB_ENST00000409198.1_Intron|NEB_ENST00000427231.2_Missense_Mutation_p.R4743H			P20929	NEBU_HUMAN	nebulin						muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CAGTTGCTTACGGTAACCTTC	0.383													C|||	2	0.000399361	0.0015	0.0	5008	,	,		20749	0.0		0.0	False		,,,				2504	0.0																0													1.0	1.0	1.0					2																	152450810		435	939	1374	SO:0001627	intron_variant	0			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.11601+15512G>A	2.37:g.152450810C>T			F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.R4743H	ENST00000172853.10	37	c.14228		2	.	.	.	.	.	.	.	.	.	.	c	13.78	2.337875	0.41398	.	.	ENSG00000183091	ENST00000397345;ENST00000427231	T;T	0.47177	0.85;0.85	2.69	2.69	0.31865	.	.	.	.	.	T	0.57272	0.2042	L	0.60067	1.865	0.80722	D	1	.	.	.	.	.	.	T	0.63773	-0.6561	7	0.66056	D	0.02	.	13.7811	0.63084	0.0:1.0:0.0:0.0	.	.	.	.	H	4743	ENSP00000380505:R4743H;ENSP00000416578:R4743H	ENSP00000380505:R4743H	R	-	2	0	NEB	152159056	0.995000	0.38212	0.983000	0.44433	0.972000	0.66771	3.186000	0.50942	1.488000	0.48433	0.460000	0.39030	CGT	NEB	-	pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif	ENSG00000183091		0.383	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		-	0.00	44	0	C	NM_004543		152450810	-1	tier1	-	no_errors	ENST00000397345	ensembl	human	known	74_37	missense	21.21	52	14	SNP	0.999	T
NFASC	23114	genome.wustl.edu	37	1	204978801	204978801	+	Missense_Mutation	SNP	G	G	A			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr1:204978801G>A	ENST00000401399.1	+	27	3605	c.3406G>A	c.(3406-3408)Ggc>Agc	p.G1136S	NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000367171.4_Missense_Mutation_p.G1228S|NFASC_ENST00000367170.4_Missense_Mutation_p.G1164S|NFASC_ENST00000404076.1_Missense_Mutation_p.G1053S|NFASC_ENST00000539706.1_Missense_Mutation_p.G1070S|NFASC_ENST00000513543.1_Missense_Mutation_p.G1065S|NFASC_ENST00000404907.1_Missense_Mutation_p.G1070S|NFASC_ENST00000339876.6_Missense_Mutation_p.G1136S|NFASC_ENST00000338515.6_Missense_Mutation_p.G1153S|NFASC_ENST00000367169.4_Missense_Mutation_p.G967S|NFASC_ENST00000338586.6_Missense_Mutation_p.G1120S|NFASC_ENST00000360049.4_Missense_Mutation_p.G1065S|NFASC_ENST00000367172.4_Missense_Mutation_p.G1243S			O94856	NFASC_HUMAN	neurofascin	1243	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GAGGAGTCGCGGCGGCAAGTA	0.617																																																	0													61.0	49.0	53.0					1																	204978801		2203	4300	6503	SO:0001583	missense	0			AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29866	protein-coding gene	gene with protein product		609145	"""neurofascin homolog (chicken)"""			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.3406G>A	1.37:g.204978801G>A	ENSP00000385637:p.Gly1136Ser		B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.G1243S	ENST00000401399.1	37	c.3727	CCDS53460.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.4|29.4	5.004693|5.004693	0.93287|0.93287	.|.	.|.	ENSG00000163531|ENSG00000163531	ENST00000367172;ENST00000367171;ENST00000367170;ENST00000338515;ENST00000339876;ENST00000338586;ENST00000295776;ENST00000539706;ENST00000360049;ENST00000367169;ENST00000404076;ENST00000401399;ENST00000404907;ENST00000513543;ENST00000430393;ENST00000447819|ENST00000413225	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D|D	0.92647|0.89343	-3.08;-3.08;-3.08;-3.08;-3.08;-3.08;-3.08;-3.08;-3.08;-3.08;-3.08;-3.08;-3.08;-3.08;-3.08|-2.5	5.27|5.27	4.35|4.35	0.52113|0.52113	.|.	0.129611|.	0.34314|.	N|.	0.004072|.	D|D	0.93609|0.93609	0.7959|0.7959	M|M	0.85299|0.85299	2.745|2.745	0.34981|0.34981	D|D	0.754116|0.754116	D;D;D;D;D;D;D|.	0.89917|.	0.998;0.981;1.0;0.999;1.0;0.997;1.0|.	P;D;D;D;D;P;D|.	0.83275|.	0.787;0.97;0.985;0.987;0.979;0.833;0.996|.	D|D	0.96764|0.96764	0.9563|0.9563	10|7	0.87932|0.72032	D|D	0|0.01	.|.	13.8123|13.8123	0.63270|0.63270	0.0761:0.0:0.9239:0.0|0.0761:0.0:0.9239:0.0	.|.	1243;1085;1070;1120;962;1136;1065|.	O94856;O94856-11;O94856-8;F8W8X7;O94856-4;O94856-9;O94856-3|.	NFASC_HUMAN;.;.;.;.;.;.|.	S|Q	1243;1228;1164;1153;1136;1120;1085;1070;1065;967;1053;1136;1070;1065;1061;114|182	ENSP00000356140:G1243S;ENSP00000356139:G1228S;ENSP00000356138:G1164S;ENSP00000342128:G1153S;ENSP00000344786:G1136S;ENSP00000343509:G1120S;ENSP00000438614:G1070S;ENSP00000353154:G1065S;ENSP00000356137:G967S;ENSP00000385676:G1053S;ENSP00000385637:G1136S;ENSP00000384061:G1070S;ENSP00000425908:G1065S;ENSP00000415031:G1061S;ENSP00000416891:G114S|ENSP00000393290:R182Q	ENSP00000295776:G1085S|ENSP00000393290:R182Q	G|R	+|+	1|2	0|0	NFASC|NFASC	203245424|203245424	1.000000|1.000000	0.71417|0.71417	0.408000|0.408000	0.26446|0.26446	0.993000|0.993000	0.82548|0.82548	7.947000|7.947000	0.87758|0.87758	2.428000|2.428000	0.82296|0.82296	0.655000|0.655000	0.94253|0.94253	GGC|CGG	NFASC	-	NULL	ENSG00000163531		0.617	NFASC-001	KNOWN	basic|CCDS	protein_coding	NFASC	HGNC	protein_coding	OTTHUMT00000131237.1	-	0.00	33	0	G	NM_001005388		204978801	+1	tier1	-	no_errors	ENST00000367172	ensembl	human	known	74_37	missense	23.91	35	11	SNP	0.998	A
NFE2L2	4780	genome.wustl.edu	37	2	178095854	178095854	+	Missense_Mutation	SNP	C	C	T			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr2:178095854C>T	ENST00000397062.3	-	5	2031	c.1477G>A	c.(1477-1479)Gct>Act	p.A493T	NFE2L2_ENST00000446151.2_Missense_Mutation_p.A470T|NFE2L2_ENST00000397063.4_Missense_Mutation_p.A477T|NFE2L2_ENST00000464747.1_Missense_Mutation_p.A477T	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	493					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			GCAAGTTGAGCTTCATTGAAC	0.388			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)																														Dom	yes		2	2q31	4780	nuclear factor (erythroid-derived 2)-like 2 (NRF2)		E	0													174.0	153.0	159.0					2																	178095854		1849	4085	5934	SO:0001583	missense	0				CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"""basic leucine zipper proteins"""	7782	protein-coding gene	gene with protein product	"""NF-E2-related factor 2"""	600492	"""nuclear factor (erythroid-derived 2)-like 2"""			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.1477G>A	2.37:g.178095854C>T	ENSP00000380252:p.Ala493Thr		B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	pfam_bZIP,superfamily_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP	p.A493T	ENST00000397062.3	37	c.1477	CCDS42782.1	2	.	.	.	.	.	.	.	.	.	.	C	20.2	3.942225	0.73672	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000449627	D;D;D;D	0.91295	-2.82;-2.82;-2.82;-2.82	5.95	5.95	0.96441	Eukaryotic transcription factor, Skn-1-like, DNA-binding (2);	0.045517	0.85682	N	0.000000	D	0.95079	0.8406	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.992	D	0.94717	0.7897	10	0.72032	D	0.01	-14.5232	20.3748	0.98911	0.0:1.0:0.0:0.0	.	470;493	E9PGJ7;Q16236	.;NF2L2_HUMAN	T	477;493;470;221	ENSP00000380253:A477T;ENSP00000380252:A493T;ENSP00000411575:A470T;ENSP00000391590:A221T	ENSP00000380252:A493T	A	-	1	0	NFE2L2	177804100	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	3.847000	0.55895	2.817000	0.96982	0.563000	0.77884	GCT	NFE2L2	-	superfamily_TF_DNA-bd	ENSG00000116044		0.388	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	NFE2L2	HGNC	protein_coding	OTTHUMT00000257752.4	-	0.00	27	0	C	NM_006164		178095854	-1	tier1	-	no_errors	ENST00000397062	ensembl	human	known	74_37	missense	15.15	28	5	SNP	1.000	T
NFKB1	4790	genome.wustl.edu	37	4	103451072	103451072	+	Splice_Site	SNP	G	G	C			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr4:103451072G>C	ENST00000505458.1	+	3	395		c.e3+1		NFKB1_ENST00000394820.4_Splice_Site|NFKB1_ENST00000226574.4_Splice_Site			P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1						apoptotic process (GO:0006915)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of cytokine production (GO:0001818)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-12 biosynthetic process (GO:0045083)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|response to copper ion (GO:0046688)|response to oxidative stress (GO:0006979)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I-kappaB/NF-kappaB complex (GO:0033256)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleic acid binding transcription factor activity (GO:0001071)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Acetylsalicylic acid(DB00945)|Pranlukast(DB01411)|Thalidomide(DB01041)|Triflusal(DB08814)	CTGCCAACAGGTAAGAAAACT	0.363																																																	0													49.0	50.0	50.0					4																	103451072		2203	4300	6503	SO:0001630	splice_region_variant	0			M58603	CCDS3657.1, CCDS54783.1	4q24	2013-01-10	2008-07-28		ENSG00000109320	ENSG00000109320		"""Ankyrin repeat domain containing"""	7794	protein-coding gene	gene with protein product		164011				1992489	Standard	NM_003998		Approved	KBF1, p105, NFKB-p50, p50, NF-kappaB, NFkappaB, NF-kB1	uc011cep.2	P19838	OTTHUMG00000161080	ENST00000505458.1:c.118+1G>C	4.37:g.103451072G>C			A8K5Y5|B3KVE8|Q68D84|Q86V43|Q8N4X7|Q9NZC0	Splice_Site	SNP	-	e2+1	ENST00000505458.1	37	c.118+1	CCDS54783.1	4	.	.	.	.	.	.	.	.	.	.	G	17.24	3.339959	0.60963	.	.	ENSG00000109320	ENST00000226574;ENST00000394820;ENST00000511926;ENST00000507079;ENST00000505458;ENST00000509165	.	.	.	4.97	4.97	0.65823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1129	0.65134	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NFKB1	103670102	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	4.166000	0.58203	2.475000	0.83589	0.591000	0.81541	.	NFKB1	-	-	ENSG00000109320		0.363	NFKB1-003	KNOWN	alternative_5_UTR|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	NFKB1	HGNC	protein_coding	OTTHUMT00000363411.1	-	0.00	79	0	G		Intron	103451072	+1	tier1	-	no_errors	ENST00000226574	ensembl	human	known	74_37	splice_site	11.76	75	10	SNP	1.000	C
NGF	4803	genome.wustl.edu	37	1	115829298	115829298	+	Missense_Mutation	SNP	A	A	C			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr1:115829298A>C	ENST00000369512.2	-	3	287	c.119T>G	c.(118-120)cTt>cGt	p.L40R	RP4-663N10.1_ENST00000425449.1_RNA	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN	nerve growth factor (beta polypeptide)	40					activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|adult locomotory behavior (GO:0008344)|apoptotic signaling pathway (GO:0097190)|circadian rhythm (GO:0007623)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|inflammatory response (GO:0006954)|memory (GO:0007613)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|nerve growth factor processing (GO:0032455)|neuron apoptotic process (GO:0051402)|neuron projection morphogenesis (GO:0048812)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axon extension (GO:0045773)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neurotrophin TRK receptor signaling pathway (GO:0051388)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|Ras protein signal transduction (GO:0007265)|regulation of axonogenesis (GO:0050770)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of neurotransmitter secretion (GO:0046928)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to nicotine (GO:0035094)|response to ozone (GO:0010193)|response to peptide hormone (GO:0043434)|response to radiation (GO:0009314)|sensory perception of pain (GO:0019233)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)	nerve growth factor receptor binding (GO:0005163)|receptor signaling protein activity (GO:0005057)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	GGAATGCTGAAGTTTAGTCCA	0.602																																																	0													110.0	88.0	95.0					1																	115829298		2203	4300	6503	SO:0001583	missense	0				CCDS882.1	1p13.1	2014-09-17	2008-02-07	2008-02-07	ENSG00000134259	ENSG00000134259		"""Endogenous ligands"""	7808	protein-coding gene	gene with protein product		162030		NGFB			Standard	XM_006710663		Approved		uc001efu.1	P01138	OTTHUMG00000011880	ENST00000369512.2:c.119T>G	1.37:g.115829298A>C	ENSP00000358525:p.Leu40Arg		A1A4E5|Q6FHA0|Q96P60|Q9P2Q8|Q9UKL8	Missense_Mutation	SNP	pirsf_Nerve_growth_factor-like,pfam_Nerve_growth_factor-rel,smart_Nerve_growth_factor-rel,prints_Nerve_growth_factor-rel,prints_Nerve_growth_factor_bsu_mml,prints_Nerve_growth_factor_bsu,pfscan_Nerve_growth_factor-rel	p.L40R	ENST00000369512.2	37	c.119	CCDS882.1	1	.	.	.	.	.	.	.	.	.	.	A	4.961	0.178437	0.09443	.	.	ENSG00000134259	ENST00000369512	T	0.62639	0.01	5.36	4.24	0.50183	.	0.382752	0.25494	N	0.030281	T	0.19644	0.0472	N	0.13098	0.295	0.09310	N	0.999999	P	0.39964	0.697	B	0.38562	0.276	T	0.02358	-1.1171	10	0.21540	T	0.41	-13.2042	3.6848	0.08324	0.6864:0.0:0.3136:0.0	.	40	P01138	NGF_HUMAN	R	40	ENSP00000358525:L40R	ENSP00000358525:L40R	L	-	2	0	NGF	115630821	1.000000	0.71417	0.948000	0.38648	0.794000	0.44872	2.120000	0.41968	2.028000	0.59812	0.383000	0.25322	CTT	NGF	-	pirsf_Nerve_growth_factor-like,prints_Nerve_growth_factor_bsu_mml	ENSG00000134259		0.602	NGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NGF	HGNC	protein_coding	OTTHUMT00000032832.1	-	0.00	43	0	A	NM_002506		115829298	-1	tier1	-	no_errors	ENST00000369512	ensembl	human	known	74_37	missense	28.00	36	14	SNP	0.157	C
NKAPL	222698	genome.wustl.edu	37	6	28227923	28227923	+	Missense_Mutation	SNP	G	G	T			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr6:28227923G>T	ENST00000343684.3	+	1	826	c.774G>T	c.(772-774)gaG>gaT	p.E258D	ZKSCAN4_ENST00000423974.2_5'Flank	NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	258										breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						ACTCAGAAGAGGACTTGTCAG	0.373																																																	0													38.0	40.0	39.0					6																	28227923		2203	4300	6503	SO:0001583	missense	0			BC038240	CCDS34353.1	6p21.33	2008-02-05	2007-08-16	2007-08-16	ENSG00000189134	ENSG00000189134			21584	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 194"""	C6orf194			Standard	NM_001007531		Approved	bA424I5.1	uc003nkt.4	Q5M9Q1	OTTHUMG00000014517	ENST00000343684.3:c.774G>T	6.37:g.28227923G>T	ENSP00000345716:p.Glu258Asp		Q3MIV1|Q9H4Q7	Missense_Mutation	SNP	pfam_DUF926	p.E258D	ENST00000343684.3	37	c.774	CCDS34353.1	6	.	.	.	.	.	.	.	.	.	.	G	5.792	0.330536	0.10956	.	.	ENSG00000189134	ENST00000343684	T	0.14266	2.52	4.43	-0.826	0.10805	.	0.322809	0.31323	N	0.007845	T	0.01976	0.0062	N	0.20483	0.58	0.25439	N	0.988118	P	0.42827	0.791	B	0.35859	0.212	T	0.50448	-0.8827	10	0.25106	T	0.35	-6.0795	8.9198	0.35604	0.5759:0.0:0.4241:0.0	.	258	Q5M9Q1	NKAPL_HUMAN	D	258	ENSP00000345716:E258D	ENSP00000345716:E258D	E	+	3	2	NKAPL	28335902	0.961000	0.32948	0.492000	0.27490	0.186000	0.23388	0.149000	0.16243	-0.164000	0.10927	-0.140000	0.14226	GAG	NKAPL	-	NULL	ENSG00000189134		0.373	NKAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKAPL	HGNC	protein_coding	OTTHUMT00000040185.1	-	0.00	32	0	G			28227923	+1	tier1	-	no_errors	ENST00000343684	ensembl	human	known	74_37	missense	5.97	63	4	SNP	0.991	T
NME8	51314	genome.wustl.edu	37	7	37924817	37924817	+	Missense_Mutation	SNP	A	A	G			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr7:37924817A>G	ENST00000199447.4	+	14	1582	c.1210A>G	c.(1210-1212)Aga>Gga	p.R404G	EPDR1_ENST00000476620.1_Intron|NME8_ENST00000440017.1_Missense_Mutation_p.R404G	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	404	NDK 2.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)										ACTGGGACCAAGAACTGTTGA	0.383																																																	0													90.0	81.0	84.0					7																	37924817		2203	4300	6503	SO:0001583	missense	0			AF202051	CCDS5452.1	7p15.2	2012-05-18	2012-05-18	2012-05-18	ENSG00000086288	ENSG00000086288			16473	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 2"""	607421	"""thioredoxin domain containing 3 (spermatozoa)"""	TXNDC3		11737268, 11768308, 19852809	Standard	NM_016616		Approved	CILD6, SPTRX2, NM23-H8	uc003tfn.3	Q8N427	OTTHUMG00000023716	ENST00000199447.4:c.1210A>G	7.37:g.37924817A>G	ENSP00000199447:p.Arg404Gly		Q9NZH1	Missense_Mutation	SNP	pfam_Nucleoside_diP_kinase,pfam_Thioredoxin_domain,superfamily_Nucleoside_diP_kinase,superfamily_Thioredoxin-like_fold,smart_Nucleoside_diP_kinase	p.R404G	ENST00000199447.4	37	c.1210	CCDS5452.1	7	.	.	.	.	.	.	.	.	.	.	A	4.507	0.094001	0.08632	.	.	ENSG00000086288	ENST00000199447;ENST00000440017	T;T	0.54675	0.56;0.56	3.69	3.69	0.42338	.	1.583150	0.03545	N	0.224498	T	0.33469	0.0864	N	0.03608	-0.345	0.19300	N	0.999973	B	0.02656	0.0	B	0.06405	0.002	T	0.12293	-1.0553	10	0.29301	T	0.29	-0.3598	10.7015	0.45931	1.0:0.0:0.0:0.0	.	404	Q8N427	TXND3_HUMAN	G	404	ENSP00000199447:R404G;ENSP00000397063:R404G	ENSP00000199447:R404G	R	+	1	2	TXNDC3	37891342	0.976000	0.34144	0.753000	0.31225	0.043000	0.13939	2.542000	0.45744	1.905000	0.55150	0.460000	0.39030	AGA	NME8	-	pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase	ENSG00000086288		0.383	NME8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NME8	HGNC	protein_coding	OTTHUMT00000219946.1	-	0.00	64	0	A	NM_016616		37924817	+1	tier1	-	no_errors	ENST00000199447	ensembl	human	known	74_37	missense	28.09	64	25	SNP	0.898	G
NPBWR1	2831	genome.wustl.edu	37	8	53852661	53852661	+	Missense_Mutation	SNP	C	C	T			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr8:53852661C>T	ENST00000331251.3	+	1	1671	c.194C>T	c.(193-195)gCg>gTg	p.A65V		NM_005285.3	NP_005276.2	P48145	NPBW1_HUMAN	neuropeptides B/W receptor 1	65					G-protein coupled receptor signaling pathway (GO:0007186)|opioid receptor signaling pathway (GO:0038003)|regulation of metabolic process (GO:0019222)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|opioid receptor activity (GO:0004985)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)	17		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				TTGCTGCGGGCGCCCCGCATG	0.657																																																	0													50.0	39.0	43.0					8																	53852661		2203	4300	6503	SO:0001583	missense	0			BC033145	CCDS6151.1	8p22-q21.13	2012-08-08	2006-02-15	2006-02-15		ENSG00000183729		"""GPCR / Class A : Neuropeptide receptors : W/B"""	4522	protein-coding gene	gene with protein product		600730	"""G protein-coupled receptor 7"""	GPR7		7590751, 12401809	Standard	NM_005285		Approved		uc011ldu.2	P48145		ENST00000331251.3:c.194C>T	8.37:g.53852661C>T	ENSP00000330284:p.Ala65Val		Q6NTC7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Neuropept_B/W_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_Opioid_rcpt	p.A65V	ENST00000331251.3	37	c.194	CCDS6151.1	8	.	.	.	.	.	.	.	.	.	.	C	19.18	3.778037	0.70107	.	.	ENSG00000183729	ENST00000331251	T	0.72282	-0.64	4.74	3.85	0.44370	GPCR, rhodopsin-like superfamily (1);	0.114616	0.37012	N	0.002294	T	0.69869	0.3159	M	0.71581	2.175	0.41409	D	0.987729	P	0.35527	0.507	B	0.34590	0.186	T	0.74435	-0.3666	10	0.66056	D	0.02	.	14.9469	0.71039	0.0:0.8562:0.1438:0.0	.	65	P48145	NPBW1_HUMAN	V	65	ENSP00000330284:A65V	ENSP00000330284:A65V	A	+	2	0	NPBWR1	54015214	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	7.428000	0.80296	1.197000	0.43143	0.655000	0.94253	GCG	NPBWR1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY_rcpt,prints_Opioid_rcpt	ENSG00000183729		0.657	NPBWR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPBWR1	HGNC	protein_coding	OTTHUMT00000378047.1	-	0.00	61	0	C	NM_005285		53852661	+1	tier1	-	no_errors	ENST00000331251	ensembl	human	known	74_37	missense	15.38	55	10	SNP	1.000	T
NPEPL1	79716	genome.wustl.edu	37	20	57269565	57269565	+	Missense_Mutation	SNP	C	C	T	rs370807734		TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr20:57269565C>T	ENST00000356091.6	+	3	712	c.424C>T	c.(424-426)Cgg>Tgg	p.R142W	NPEPL1_ENST00000525967.1_Missense_Mutation_p.R114W|NPEPL1_ENST00000525817.1_Missense_Mutation_p.R94W|STX16-NPEPL1_ENST00000530122.1_3'UTR	NM_024663.3	NP_078939.3	Q8NDH3	PEPL1_HUMAN	aminopeptidase-like 1	142						cytoplasm (GO:0005737)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metalloexopeptidase activity (GO:0008235)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109)			AGGTGCCTCTCGGCGCTTGGA	0.632																																																	0								C	TRP/ARG,TRP/ARG,TRP/ARG	3,3953		0,3,1975	47.0	52.0	50.0		340,280,424	-5.1	0.0	20		50	0,8304		0,0,4152	no	missense,missense,missense	NPEPL1	NM_001204872.1,NM_001204873.1,NM_024663.3	101,101,101	0,3,6127	TT,TC,CC		0.0,0.0758,0.0245	possibly-damaging,possibly-damaging,possibly-damaging	114/496,94/476,142/524	57269565	3,12257	1978	4152	6130	SO:0001583	missense	0			AK021645	CCDS46621.1, CCDS56200.1, CCDS56201.1	20q13.32	2008-07-02			ENSG00000215440	ENSG00000215440			16244	protein-coding gene	gene with protein product						14702039	Standard	NM_001204872		Approved	FLJ11583, bA261P9.2	uc010zzs.1	Q8NDH3	OTTHUMG00000033060	ENST00000356091.6:c.424C>T	20.37:g.57269565C>T	ENSP00000348395:p.Arg142Trp		A6NGZ0|B4DMW7|B7ZBN0|E9PN47|G5EA34|Q53G37|Q5W083|Q8TF28|Q8WUI2|Q9H1T6|Q9HAI5	Missense_Mutation	SNP	pfam_Peptidase_M17_C,prints_Leucine_aapep/pepB	p.R142W	ENST00000356091.6	37	c.424	CCDS46621.1	20	.	.	.	.	.	.	.	.	.	.	C	13.36	2.215045	0.39102	7.58E-4	0.0	ENSG00000215440	ENST00000525967;ENST00000525817;ENST00000356091	T;T;T	0.32988	1.43;1.44;1.43	4.62	-5.13	0.02884	.	0.000000	0.85682	D	0.000000	T	0.47377	0.1442	M	0.65975	2.015	0.34579	D	0.714249	D;D;D;D	0.76494	0.998;0.997;0.999;0.999	P;D;P;D	0.71184	0.889;0.913;0.735;0.972	T	0.61922	-0.6963	10	0.87932	D	0	-23.1519	16.4926	0.84206	0.7149:0.2851:0.0:0.0	.	142;94;114;142	Q8NDH3;G5EA34;E9PN47;Q8NDH3-3	PEPL1_HUMAN;.;.;.	W	114;94;142	ENSP00000434810:R114W;ENSP00000437112:R94W;ENSP00000348395:R142W	ENSP00000348395:R142W	R	+	1	2	NPEPL1	56702972	0.210000	0.23517	0.000000	0.03702	0.004000	0.04260	0.846000	0.27682	-0.593000	0.05844	-0.324000	0.08512	CGG	NPEPL1	-	NULL	ENSG00000215440		0.632	NPEPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPEPL1	HGNC	protein_coding	OTTHUMT00000080402.6	-	0.00	53	0	C	NM_024663		57269565	+1	tier1	-	no_errors	ENST00000356091	ensembl	human	known	74_37	missense	7.35	63	5	SNP	0.038	T
NR2C2	7182	genome.wustl.edu	37	3	15084383	15084383	+	Missense_Mutation	SNP	G	G	T			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr3:15084383G>T	ENST00000425241.1	+	14	2021	c.1659G>T	c.(1657-1659)atG>atT	p.M553I	NR2C2_ENST00000406272.2_Missense_Mutation_p.M553I|NR2C2_ENST00000393102.3_Missense_Mutation_p.M553I|NR2C2_ENST00000323373.6_Missense_Mutation_p.M572I|MRPS25_ENST00000496484.1_5'UTR|NR2C2_ENST00000478572.1_3'UTR			P49116	NR2C2_HUMAN	nuclear receptor subfamily 2, group C, member 2	553	Ligand-binding. {ECO:0000250}.				cell differentiation (GO:0030154)|gene expression (GO:0010467)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TCAGGCTGATGAGCTCCAACA	0.468																																																	0													79.0	71.0	74.0					3																	15084383		2203	4300	6503	SO:0001583	missense	0			L27586	CCDS2621.1, CCDS74905.1	3p25	2013-01-16			ENSG00000177463	ENSG00000177463		"""Nuclear hormone receptors"""	7972	protein-coding gene	gene with protein product		601426		TR4		8661150, 8016112	Standard	XM_005265428		Approved	TAK1, TR2R1, hTAK1	uc003bzi.3	P49116	OTTHUMG00000129839	ENST00000425241.1:c.1659G>T	3.37:g.15084383G>T	ENSP00000388387:p.Met553Ile		A8K3H5|B6ZGT8|P55092	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt	p.M572I	ENST00000425241.1	37	c.1716		3	.	.	.	.	.	.	.	.	.	.	G	18.76	3.692585	0.68271	.	.	ENSG00000177463	ENST00000425241;ENST00000323373;ENST00000393102;ENST00000406272	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	5.76	5.76	0.90799	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	T	0.33235	0.0856	N	0.00980	-1.08	0.80722	D	1	B;D	0.54964	0.021;0.969	B;D	0.72338	0.033;0.977	T	0.37126	-0.9719	10	0.02654	T;T	1;1	.	20.3242	0.98691	0.0:0.0:1.0:0.0	.	553;572	P49116;F2YGU2	NR2C2_HUMAN;.	I	553;572;553;553	ENSP00000388387:M553I;ENSP00000320447:M572I;ENSP00000376814:M553I;ENSP00000384463:M553I	ENSP00000320447:M572I;ENSP00000320447:M572I	M	+	3	0	NR2C2	15059387	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	9.863000	0.99569	2.882000	0.98803	0.655000	0.94253	ATG	NR2C2	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt	ENSG00000177463		0.468	NR2C2-002	NOVEL	basic|appris_principal	protein_coding	NR2C2	HGNC	protein_coding	OTTHUMT00000340729.1		0.00	74	0	G	NM_003298		15084383	+1			no_errors	ENST00000323373	ensembl	human	known	74_37	missense	5.71	66	4	SNP	1.000	T
NUP107	57122	genome.wustl.edu	37	12	69103086	69103086	+	Missense_Mutation	SNP	T	T	A			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr12:69103086T>A	ENST00000229179.4	+	9	1130	c.798T>A	c.(796-798)agT>agA	p.S266R	NUP107_ENST00000378905.2_Missense_Mutation_p.S115R|NUP107_ENST00000539906.1_Missense_Mutation_p.S237R	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	266					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|structural constituent of nuclear pore (GO:0017056)		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			TTCGACAAAGTCAGGTATGAC	0.299																																																	0													66.0	77.0	73.0					12																	69103086		2203	4297	6500	SO:0001583	missense	0			AK055629	CCDS8985.1	12q14	2004-03-19			ENSG00000111581	ENSG00000111581			29914	protein-coding gene	gene with protein product		607617				12552102, 12705868	Standard	XM_005269037		Approved	NUP84	uc001suf.3	P57740	OTTHUMG00000169265	ENST00000229179.4:c.798T>A	12.37:g.69103086T>A	ENSP00000229179:p.Ser266Arg		B4DZ67|Q6PJE1	Missense_Mutation	SNP	pfam_Nup84_Nup100	p.S266R	ENST00000229179.4	37	c.798	CCDS8985.1	12	.	.	.	.	.	.	.	.	.	.	T	19.86	3.906439	0.72868	.	.	ENSG00000111581	ENST00000229179;ENST00000378905;ENST00000539906	.	.	.	5.1	1.46	0.22682	.	0.077238	0.85682	D	0.000000	T	0.66396	0.2785	M	0.68952	2.095	0.58432	D	0.999999	P;D;P	0.69078	0.919;0.997;0.842	P;D;P	0.64410	0.807;0.925;0.713	T	0.63116	-0.6709	8	.	.	.	-3.5057	7.6657	0.28430	0.0:0.3914:0.0:0.6086	.	237;115;266	B4DZ67;Q6PJE1;P57740	.;.;NU107_HUMAN	R	266;115;237	.	.	S	+	3	2	NUP107	67389353	0.991000	0.36638	1.000000	0.80357	0.990000	0.78478	0.148000	0.16224	0.367000	0.24454	0.482000	0.46254	AGT	NUP107	-	pfam_Nup84_Nup100	ENSG00000111581		0.299	NUP107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP107	HGNC	protein_coding	OTTHUMT00000403195.1	-	0.00	29	0	T	NM_020401		69103086	+1	tier1	-	no_errors	ENST00000229179	ensembl	human	known	74_37	missense	15.25	50	9	SNP	1.000	A
NUP188	23511	genome.wustl.edu	37	9	131765654	131765654	+	Missense_Mutation	SNP	C	C	A			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr9:131765654C>A	ENST00000372577.2	+	38	4376	c.4355C>A	c.(4354-4356)aCc>aAc	p.T1452N	RP11-167N5.5_ENST00000594418.1_lincRNA	NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1452					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						GCGGACCACACCGTGGGTTTT	0.572																																																	0													139.0	129.0	133.0					9																	131765654		2203	4300	6503	SO:0001583	missense	0			D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"""KIAA0169"""	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.4355C>A	9.37:g.131765654C>A	ENSP00000361658:p.Thr1452Asn		Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Missense_Mutation	SNP	pfam_Nucleoporin_Nup188,superfamily_ARM-type_fold	p.T1452N	ENST00000372577.2	37	c.4355	CCDS35156.1	9	.	.	.	.	.	.	.	.	.	.	C	30	5.050216	0.93740	.	.	ENSG00000095319	ENST00000356693;ENST00000372577	T	0.34072	1.38	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.61110	0.2321	M	0.67953	2.075	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.78314	0.972;0.991	T	0.61783	-0.6992	10	0.87932	D	0	-31.7491	19.0419	0.93004	0.0:1.0:0.0:0.0	.	785;1452	E9PET9;Q5SRE5	.;NU188_HUMAN	N	1341;1452	ENSP00000361658:T1452N	ENSP00000349125:T1341N	T	+	2	0	NUP188	130805475	1.000000	0.71417	0.990000	0.47175	0.991000	0.79684	7.487000	0.81328	2.758000	0.94735	0.561000	0.74099	ACC	NUP188	-	NULL	ENSG00000095319		0.572	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP188	HGNC	protein_coding	OTTHUMT00000054529.2	-	0.00	52	0	C			131765654	+1	tier1	-	no_errors	ENST00000372577	ensembl	human	known	74_37	missense	12.50	42	6	SNP	1.000	A
NUP93	9688	genome.wustl.edu	37	16	56871629	56871629	+	Missense_Mutation	SNP	T	T	G			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr16:56871629T>G	ENST00000308159.5	+	18	2130	c.2009T>G	c.(2008-2010)aTt>aGt	p.I670S	NUP93_ENST00000542526.1_Missense_Mutation_p.I547S|NUP93_ENST00000569842.1_Missense_Mutation_p.I670S|NUP93_ENST00000564887.1_Missense_Mutation_p.I547S	NM_014669.4	NP_055484.3	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	670					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						GCACTCTCCATTGCCGAACGG	0.572																																					Colon(33;610 796 1305 1705 38917)												0													58.0	49.0	52.0					16																	56871629		2198	4300	6498	SO:0001583	missense	0			D42085	CCDS10769.1, CCDS55996.1	16q13	2008-02-05			ENSG00000102900	ENSG00000102900			28958	protein-coding gene	gene with protein product		614351				9348540, 9531546	Standard	NM_014669		Approved	KIAA0095	uc002eka.3	Q8N1F7	OTTHUMG00000133278	ENST00000308159.5:c.2009T>G	16.37:g.56871629T>G	ENSP00000310668:p.Ile670Ser		B3KPQ8|Q14705	Missense_Mutation	SNP	pfam_Nucleoporin_int_Nup93/Nic96	p.I670S	ENST00000308159.5	37	c.2009	CCDS10769.1	16	.	.	.	.	.	.	.	.	.	.	T	24.7	4.558006	0.86231	.	.	ENSG00000102900	ENST00000308159;ENST00000542526	T;T	0.53857	0.6;0.6	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.72614	0.3482	M	0.76328	2.33	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	T	0.74648	-0.3595	10	0.54805	T	0.06	-16.6083	16.3695	0.83350	0.0:0.0:0.0:1.0	.	670	Q8N1F7	NUP93_HUMAN	S	670;547	ENSP00000310668:I670S;ENSP00000440235:I547S	ENSP00000310668:I670S	I	+	2	0	NUP93	55429130	1.000000	0.71417	0.979000	0.43373	0.694000	0.40290	7.632000	0.83247	2.315000	0.78130	0.533000	0.62120	ATT	NUP93	-	pfam_Nucleoporin_int_Nup93/Nic96	ENSG00000102900		0.572	NUP93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP93	HGNC	protein_coding	OTTHUMT00000257058.4	-	0.00	28	0	T	NM_014669		56871629	+1	tier1	-	no_errors	ENST00000308159	ensembl	human	known	74_37	missense	33.33	24	12	SNP	1.000	G
OR1C1	26188	genome.wustl.edu	37	1	247921595	247921595	+	Silent	SNP	G	G	T	rs536033246		TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr1:247921595G>T	ENST00000408896.2	-	1	387	c.114C>A	c.(112-114)acC>acA	p.T38T		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	38					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TCCCCAAGGTGGTGGCTAAAT	0.478																																																	0													62.0	61.0	61.0					1																	247921595		2093	4230	6323	SO:0001819	synonymous_variant	0			X89674	CCDS41481.1	1q44	2012-08-09			ENSG00000221888	ENSG00000221888		"""GPCR / Class A : Olfactory receptors"""	8182	protein-coding gene	gene with protein product						9119360	Standard	NM_012353		Approved	TPCR27, HSTPCR27	uc010pza.2	Q15619	OTTHUMG00000040198	ENST00000408896.2:c.114C>A	1.37:g.247921595G>T			B9EIR9|Q5VVD2|Q6IF97|Q8NGZ1|Q96R83	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T38	ENST00000408896.2	37	c.114	CCDS41481.1	1																																																																																			OR1C1	-	prints_GPCR_Rhodpsn	ENSG00000221888		0.478	OR1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1C1	HGNC	protein_coding	OTTHUMT00000096855.1	-	0.00	42	0	G			247921595	-1	tier1	-	no_errors	ENST00000408896	ensembl	human	known	74_37	silent	23.08	40	12	SNP	0.000	T
OR51A4	401666	genome.wustl.edu	37	11	4967768	4967768	+	Missense_Mutation	SNP	T	T	G			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr11:4967768T>G	ENST00000380373.2	-	1	588	c.563A>C	c.(562-564)aAg>aCg	p.K188T	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	188						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACAGGCCAACTTCATGACATC	0.413																																																	0													72.0	70.0	70.0					11																	4967768		2196	4284	6480	SO:0001583	missense	0			AB065798	CCDS31367.1	11p15.4	2012-08-09			ENSG00000205497	ENSG00000205497		"""GPCR / Class A : Olfactory receptors"""	14795	protein-coding gene	gene with protein product							Standard	NM_001005329		Approved		uc010qys.2	Q8NGJ6	OTTHUMG00000066614	ENST00000380373.2:c.563A>C	11.37:g.4967768T>G	ENSP00000369731:p.Lys188Thr			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.K188T	ENST00000380373.2	37	c.563	CCDS31367.1	11	.	.	.	.	.	.	.	.	.	.	T	11.76	1.734892	0.30774	.	.	ENSG00000205497	ENST00000380373	T	0.39997	1.05	3.44	1.13	0.20643	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.64583	0.2611	M	0.89163	3.01	0.09310	N	1	D	0.67145	0.996	D	0.72625	0.978	T	0.51356	-0.8716	9	0.87932	D	0	.	7.4109	0.27017	0.0:0.2083:0.0:0.7917	.	188	Q8NGJ6	O51A4_HUMAN	T	188	ENSP00000369731:K188T	ENSP00000369731:K188T	K	-	2	0	OR51A4	4924344	0.000000	0.05858	0.695000	0.30226	0.651000	0.38670	0.338000	0.19858	0.509000	0.28195	-0.627000	0.03993	AAG	OR51A4	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000205497		0.413	OR51A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51A4	HGNC	protein_coding	OTTHUMT00000142821.1	-	0.00	64	0	T	NM_001005329		4967768	-1	tier1	-	no_errors	ENST00000380373	ensembl	human	known	74_37	missense	21.74	54	15	SNP	0.003	G
OR52N5	390075	genome.wustl.edu	37	11	5799194	5799194	+	Missense_Mutation	SNP	G	G	T			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr11:5799194G>T	ENST00000317093.2	-	1	703	c.671C>A	c.(670-672)tCt>tAt	p.S224Y	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	224						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		GTAAGACAAAGATATACAACA	0.443																																																	0													125.0	113.0	117.0					11																	5799194		2121	4085	6206	SO:0001583	missense	0			AB065535	CCDS31397.1	11p15.4	2012-08-09			ENSG00000181009	ENSG00000181009		"""GPCR / Class A : Olfactory receptors"""	15231	protein-coding gene	gene with protein product							Standard	NM_001001922		Approved	OR52N5Q	uc010qzn.2	Q8NH56	OTTHUMG00000168799	ENST00000317093.2:c.671C>A	11.37:g.5799194G>T	ENSP00000322866:p.Ser224Tyr		B9EH12|Q6IFG2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	p.S224Y	ENST00000317093.2	37	c.671	CCDS31397.1	11	.	.	.	.	.	.	.	.	.	.	G	10.34	1.323678	0.24080	.	.	ENSG00000181009	ENST00000317093	T	0.00091	8.74	3.72	3.72	0.42706	GPCR, rhodopsin-like superfamily (1);	0.000000	0.31020	U	0.008416	T	0.00412	0.0013	M	0.83774	2.66	0.09310	N	1	P	0.45474	0.859	P	0.55871	0.786	T	0.32903	-0.9889	10	0.72032	D	0.01	.	14.6034	0.68460	0.0:0.0:1.0:0.0	.	224	Q8NH56	O52N5_HUMAN	Y	224	ENSP00000322866:S224Y	ENSP00000322866:S224Y	S	-	2	0	OR52N5	5755770	0.000000	0.05858	0.045000	0.18777	0.448000	0.32197	0.242000	0.18087	2.075000	0.62263	0.508000	0.49915	TCT	OR52N5	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000181009		0.443	OR52N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52N5	HGNC	protein_coding	OTTHUMT00000401141.1	-	0.00	17	0	G	NM_001001922		5799194	-1	tier1	-	no_errors	ENST00000317093	ensembl	human	known	74_37	missense	69.23	8	18	SNP	0.170	T
OR4S2	219431	genome.wustl.edu	37	11	55419138	55419138	+	Silent	SNP	T	T	A			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr11:55419138T>A	ENST00000312422.2	+	1	759	c.759T>A	c.(757-759)acT>acA	p.T253T		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	253						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				GCCCCTGTACTTTTATGTACA	0.468																																																	0													162.0	135.0	145.0					11																	55419138		2180	4027	6207	SO:0001819	synonymous_variant	0			BK004390	CCDS31505.1	11q11	2012-08-09	2002-11-13	2002-11-15	ENSG00000174982	ENSG00000174982		"""GPCR / Class A : Olfactory receptors"""	15183	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily S, member 2 pseudogene"""	OR4S2P			Standard	NM_001004059		Approved	OST725	uc001nhs.1	Q8NH73	OTTHUMG00000166799	ENST00000312422.2:c.759T>A	11.37:g.55419138T>A			Q6IF72	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T253	ENST00000312422.2	37	c.759	CCDS31505.1	11																																																																																			OR4S2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000174982		0.468	OR4S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4S2	HGNC	protein_coding	OTTHUMT00000391503.1	-	0.00	78	0	T	NM_001004059		55419138	+1	tier1	-	no_errors	ENST00000312422	ensembl	human	known	74_37	silent	22.68	75	22	SNP	0.004	A
OR6P1	128366	genome.wustl.edu	37	1	158532850	158532850	+	Missense_Mutation	SNP	G	G	T			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr1:158532850G>T	ENST00000334632.1	-	1	544	c.545C>A	c.(544-546)tCc>tAc	p.S182Y		NM_001160325.1	NP_001153797.1	Q8NGX9	OR6P1_HUMAN	olfactory receptor, family 6, subfamily P, member 1	182						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(4)|lung(1)	6						GAGTAGTGGGGAAATATCACA	0.468																																																	0													108.0	95.0	99.0					1																	158532850		692	1591	2283	SO:0001583	missense	0			BK004193	CCDS53391.1	1q23.1	2012-08-09			ENSG00000186440	ENSG00000186440		"""GPCR / Class A : Olfactory receptors"""	15036	protein-coding gene	gene with protein product							Standard	NM_001160325		Approved		uc010pim.2	Q8NGX9	OTTHUMG00000019633	ENST00000334632.1:c.545C>A	1.37:g.158532850G>T	ENSP00000334721:p.Ser182Tyr		Q6IFR9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S182Y	ENST00000334632.1	37	c.545	CCDS53391.1	1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.560403	0.27827	.	.	ENSG00000186440	ENST00000334632	T	0.00123	8.7	5.11	5.11	0.69529	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46145	D	0.000307	T	0.00210	0.0006	L	0.56199	1.76	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.60105	-0.7328	10	0.62326	D	0.03	.	17.4637	0.87626	0.0:0.0:1.0:0.0	.	182	Q8NGX9	OR6P1_HUMAN	Y	182	ENSP00000334721:S182Y	ENSP00000334721:S182Y	S	-	2	0	OR6P1	156799474	0.081000	0.21417	0.387000	0.26183	0.012000	0.07955	2.532000	0.45659	2.657000	0.90304	0.591000	0.81541	TCC	OR6P1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000186440		0.468	OR6P1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6P1	HGNC	protein_coding	OTTHUMT00000051848.1	-	0.00	17	0	G			158532850	-1	tier1	-	no_errors	ENST00000334632	ensembl	human	known	74_37	missense	32.14	19	9	SNP	0.074	T
OR6P1	128366	genome.wustl.edu	37	1	158532991	158532991	+	Missense_Mutation	SNP	A	A	G			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr1:158532991A>G	ENST00000334632.1	-	1	403	c.404T>C	c.(403-405)cTc>cCc	p.L135P		NM_001160325.1	NP_001153797.1	Q8NGX9	OR6P1_HUMAN	olfactory receptor, family 6, subfamily P, member 1	135						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(4)|lung(1)	6						GGAAGGCATGAGACTAGGGTA	0.502																																																	0													73.0	69.0	70.0					1																	158532991		692	1591	2283	SO:0001583	missense	0			BK004193	CCDS53391.1	1q23.1	2012-08-09			ENSG00000186440	ENSG00000186440		"""GPCR / Class A : Olfactory receptors"""	15036	protein-coding gene	gene with protein product							Standard	NM_001160325		Approved		uc010pim.2	Q8NGX9	OTTHUMG00000019633	ENST00000334632.1:c.404T>C	1.37:g.158532991A>G	ENSP00000334721:p.Leu135Pro		Q6IFR9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L135P	ENST00000334632.1	37	c.404	CCDS53391.1	1	.	.	.	.	.	.	.	.	.	.	A	13.04	2.119451	0.37436	.	.	ENSG00000186440	ENST00000334632	T	0.01379	4.96	5.11	5.11	0.69529	GPCR, rhodopsin-like superfamily (1);	0.174866	0.27323	N	0.019886	T	0.02727	0.0082	M	0.83312	2.635	0.58432	D	0.999997	D	0.59767	0.986	P	0.52514	0.701	T	0.24728	-1.0152	10	0.87932	D	0	.	10.2031	0.43097	0.8331:0.1668:0.0:0.0	.	135	Q8NGX9	OR6P1_HUMAN	P	135	ENSP00000334721:L135P	ENSP00000334721:L135P	L	-	2	0	OR6P1	156799615	0.705000	0.27846	0.968000	0.41197	0.001000	0.01503	1.787000	0.38704	2.147000	0.66899	0.482000	0.46254	CTC	OR6P1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000186440		0.502	OR6P1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6P1	HGNC	protein_coding	OTTHUMT00000051848.1	-	0.00	31	0	A			158532991	-1	tier1	-	no_errors	ENST00000334632	ensembl	human	known	74_37	missense	34.55	35	19	SNP	0.972	G
OR7D2	162998	genome.wustl.edu	37	19	9296619	9296619	+	Missense_Mutation	SNP	C	C	A			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr19:9296619C>A	ENST00000344248.2	+	1	341	c.162C>A	c.(160-162)caC>caA	p.H54Q		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	54					regulation of transcription, DNA-templated (GO:0006355)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						CTGACTCCCACCTCCACACCC	0.542																																																	0													107.0	99.0	102.0					19																	9296619		2203	4300	6503	SO:0001583	missense	0			AK095468	CCDS32900.1	19p13.2	2012-08-09						"""GPCR / Class A : Olfactory receptors"""	8378	protein-coding gene	gene with protein product							Standard	NM_175883		Approved	OR19-4, HTPCRH03, FLJ38149	uc002mkz.1	Q96RA2		ENST00000344248.2:c.162C>A	19.37:g.9296619C>A	ENSP00000345563:p.His54Gln		Q6IFJ7|Q8N133	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.H54Q	ENST00000344248.2	37	c.162	CCDS32900.1	19	.	.	.	.	.	.	.	.	.	.	C	8.585	0.883303	0.17467	.	.	ENSG00000188000	ENST00000344248	T	0.00792	5.69	2.21	2.21	0.28008	GPCR, rhodopsin-like superfamily (1);	0.167634	0.28006	U	0.016968	T	0.01029	0.0034	L	0.45744	1.44	0.21147	N	0.99977	B	0.26975	0.165	B	0.26094	0.066	T	0.44967	-0.9293	10	0.62326	D	0.03	.	11.9872	0.53155	0.0:1.0:0.0:0.0	.	54	Q96RA2	OR7D2_HUMAN	Q	54	ENSP00000345563:H54Q	ENSP00000345563:H54Q	H	+	3	2	OR7D2	9157619	0.000000	0.05858	1.000000	0.80357	0.575000	0.36095	-1.076000	0.03420	1.583000	0.49898	0.511000	0.50034	CAC	OR7D2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000188000		0.542	OR7D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR7D2	HGNC	protein_coding	OTTHUMT00000449002.1	-	0.00	126	0	C			9296619	+1	tier1	-	no_errors	ENST00000344248	ensembl	human	known	74_37	missense	20.93	68	18	SNP	0.709	A
OTOG	340990	genome.wustl.edu	37	11	17629884	17629884	+	Missense_Mutation	SNP	C	C	T			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr11:17629884C>T	ENST00000399391.2	+	33	4234	c.4234C>T	c.(4234-4236)Cgc>Tgc	p.R1412C	OTOG_ENST00000342528.2_Missense_Mutation_p.R418C|OTOG_ENST00000399397.1_Missense_Mutation_p.R1339C	NM_001277269.1	NP_001264198.1	Q6ZRI0	OTOG_HUMAN	otogelin	1412					adult locomotory behavior (GO:0008344)|L-arabinose metabolic process (GO:0046373)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	alpha-L-arabinofuranosidase activity (GO:0046556)|structural molecule activity (GO:0005198)			breast(3)|central_nervous_system(1)|lung(1)|skin(1)	6						CTGCGAGTGGCGCTACGATGC	0.652																																																	0																																										SO:0001583	missense	0			AK128214	CCDS59225.1	11p14.3	2014-07-17			ENSG00000188162	ENSG00000188162			8516	protein-coding gene	gene with protein product		604487				9405633	Standard	NM_001277269		Approved	mlemp, OTGN, FLJ46346	uc031pzc.1	Q6ZRI0	OTTHUMG00000149905	ENST00000399391.2:c.4234C>T	11.37:g.17629884C>T	ENSP00000382323:p.Arg1412Cys		A8MTX6|A8MUJ0|B7WPC4	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_AbfB,pfam_TIL_dom,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom	p.R1412C	ENST00000399391.2	37	c.4234	CCDS59225.1	11	.	.	.	.	.	.	.	.	.	.	C	22.7	4.323728	0.81580	.	.	ENSG00000188162	ENST00000399391;ENST00000399397;ENST00000342528	T;T;T	0.55234	0.53;0.53;0.53	5.28	5.28	0.74379	.	0.613891	0.15402	N	0.264240	T	0.72479	0.3465	M	0.78456	2.415	0.58432	D	0.999991	D	0.89917	1.0	D	0.64042	0.921	T	0.75169	-0.3412	10	0.87932	D	0	.	16.4046	0.83654	0.0:1.0:0.0:0.0	.	418	Q6ZRI0-2	.	C	1412;1339;418	ENSP00000382323:R1412C;ENSP00000382329:R1339C;ENSP00000341666:R418C	ENSP00000341666:R418C	R	+	1	0	OTOG	17586460	1.000000	0.71417	0.991000	0.47740	0.747000	0.42532	2.750000	0.47500	2.476000	0.83614	0.555000	0.69702	CGC	OTOG	-	superfamily_TIL_dom	ENSG00000188162		0.652	OTOG-201	KNOWN	basic|appris_principal|CCDS	protein_coding	OTOG	HGNC	protein_coding		-	0.00	36	0	C			17629884	+1	tier1	-	no_errors	ENST00000399391	ensembl	human	known	74_37	missense	26.56	46	17	SNP	1.000	T
OR8I2	120586	genome.wustl.edu	37	11	55861318	55861318	+	Missense_Mutation	SNP	G	G	A	rs140511525	byFrequency	TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr11:55861318G>A	ENST00000302124.2	+	1	566	c.535G>A	c.(535-537)Gac>Aac	p.D179N		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	179						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					TTTTTTTTGTGACACCACAGC	0.428																																																	0													155.0	146.0	149.0					11																	55861318		2201	4296	6497	SO:0001583	missense	0			AB065656	CCDS31517.1	11q11	2012-08-09			ENSG00000172154	ENSG00000172154		"""GPCR / Class A : Olfactory receptors"""	15310	protein-coding gene	gene with protein product							Standard	NM_001003750		Approved		uc010rix.2	Q8N0Y5	OTTHUMG00000166831	ENST00000302124.2:c.535G>A	11.37:g.55861318G>A	ENSP00000303864:p.Asp179Asn		B2RNN4|Q6IFC0|Q96RC5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.D179N	ENST00000302124.2	37	c.535	CCDS31517.1	11	.	.	.	.	.	.	.	.	.	.	G	20.7	4.040087	0.75732	.	.	ENSG00000172154	ENST00000302124	T	0.00188	8.59	4.33	4.33	0.51752	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42172	U	0.000755	T	0.00580	0.0019	M	0.78285	2.405	0.48341	D	0.999634	D	0.89917	1.0	D	0.87578	0.998	T	0.79300	-0.1860	10	0.87932	D	0	-12.1966	16.2092	0.82147	0.0:0.0:1.0:0.0	.	179	Q8N0Y5	OR8I2_HUMAN	N	179	ENSP00000303864:D179N	ENSP00000303864:D179N	D	+	1	0	OR8I2	55617894	1.000000	0.71417	1.000000	0.80357	0.340000	0.28889	6.935000	0.75886	2.115000	0.64714	0.440000	0.28878	GAC	OR8I2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000172154		0.428	OR8I2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8I2	HGNC	protein_coding		-	0.00	28	0	G	NM_001003750		55861318	+1	tier1	rs140511525	no_errors	ENST00000302124	ensembl	human	known	74_37	missense	21.57	40	11	SNP	1.000	A
OVCH1	341350	genome.wustl.edu	37	12	29628122	29628122	+	Splice_Site	SNP	G	G	A			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr12:29628122G>A	ENST00000318184.5	-	14	1471	c.1472C>T	c.(1471-1473)gCt>gTt	p.A491V	OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	491	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					ACAAAGTTTAGCTGAAAAAAT	0.279																																																	0													23.0	21.0	21.0					12																	29628122		1788	4054	5842	SO:0001630	splice_region_variant	0			BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950			23080	protein-coding gene	gene with protein product						12838346	Standard	NM_183378		Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.1472-1C>T	12.37:g.29628122G>A				Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_CUB_dom,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,smart_Peptidase_S1,smart_CUB_dom,pfscan_CUB_dom,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.A491V	ENST00000318184.5	37	c.1472		12	.	.	.	.	.	.	.	.	.	.	G	15.84	2.950806	0.53186	.	.	ENSG00000187950	ENST00000318184	T	0.19532	2.14	2.52	0.56	0.17279	CUB (5);	.	.	.	.	T	0.17789	0.0427	L	0.53780	1.695	0.18873	N	0.999986	B	0.31910	0.346	B	0.28385	0.089	T	0.17471	-1.0368	9	0.59425	D	0.04	.	6.3061	0.21139	0.1167:0.1888:0.6945:0.0	.	491	Q7RTY7	OVCH1_HUMAN	V	491	ENSP00000326708:A491V	ENSP00000326708:A491V	A	-	2	0	OVCH1	29519389	0.980000	0.34600	0.009000	0.14445	0.314000	0.28054	1.929000	0.40114	0.133000	0.18654	-0.474000	0.04947	GCT	OVCH1	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000187950		0.279	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	OVCH1	HGNC	protein_coding	OTTHUMT00000395997.2	-	0.00	51	0	G	NM_183378	Missense_Mutation	29628122	-1	tier1	-	no_errors	ENST00000318184	ensembl	human	known	74_37	missense	18.99	64	15	SNP	0.738	A
PAPLN	89932	genome.wustl.edu	37	14	73730411	73730411	+	Missense_Mutation	SNP	C	C	T	rs139258651	byFrequency	TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr14:73730411C>T	ENST00000554301.1	+	19	2945	c.2782C>T	c.(2782-2784)Cgg>Tgg	p.R928W	PAPLN_ENST00000340738.5_Missense_Mutation_p.R901W|PAPLN_ENST00000554314.1_Intron|PAPLN_ENST00000381166.3_Missense_Mutation_p.R928W|PAPLN_ENST00000427855.1_Missense_Mutation_p.R928W|PAPLN_ENST00000555445.1_Missense_Mutation_p.R912W			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	928	Ig-like C2-type 1.					basement membrane (GO:0005604)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)	p.R901G(1)|p.R928G(1)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		GCAGTTGGTGCGGCTCTCCTG	0.637																																																	2	Substitution - Missense(2)	pancreas(2)											80.0	76.0	77.0					14																	73730411		2203	4300	6503	SO:0001583	missense	0			BC042057	CCDS32114.1	14q24.2	2013-01-11				ENSG00000100767		"""Immunoglobulin superfamily / I-set domain containing"""	19262	protein-coding gene	gene with protein product						11076767, 19734141	Standard	NM_173462		Approved	MGC50452	uc001xnw.4	O95428		ENST00000554301.1:c.2782C>T	14.37:g.73730411C>T	ENSP00000451803:p.Arg928Trp		B4DES8|B4DGE6|Q659F2|Q6UXJ4|Q6ZNM1|Q6ZUJ0|Q7Z681|Q8IVU0	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Prot_inh_Kunz-m,pfam_PLAC,superfamily_Prot_inh_Kunz-m,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Prot_inh_Kunz-m,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like_dom,prints_Peptidase_M12B_ADAM-TS,prints_Prot_inh_Kunz-m	p.R928W	ENST00000554301.1	37	c.2782		14	.	.	.	.	.	.	.	.	.	.	C	14.88	2.668535	0.47677	.	.	ENSG00000100767	ENST00000340738;ENST00000427855;ENST00000381166;ENST00000554301;ENST00000555445	T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6	4.9	2.05	0.26809	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.49525	0.1562	M	0.75085	2.285	0.09310	N	1	D;D;D;D;D	0.89917	0.999;1.0;0.999;1.0;0.999	P;D;P;D;P	0.70935	0.905;0.943;0.899;0.971;0.899	T	0.28299	-1.0048	9	0.54805	T	0.06	.	6.7598	0.23534	0.1331:0.6686:0.1281:0.0701	.	912;928;928;127;901	O95428-5;O95428;O95428-4;O95428-2;O95428-6	.;PPN_HUMAN;.;.;.	W	901;928;928;928;912	ENSP00000345395:R901W;ENSP00000403403:R928W;ENSP00000370558:R928W;ENSP00000451803:R928W;ENSP00000451729:R912W	ENSP00000345395:R901W	R	+	1	2	PAPLN	72800164	0.374000	0.25081	0.005000	0.12908	0.002000	0.02628	3.378000	0.52432	0.251000	0.21505	-1.105000	0.02106	CGG	PAPLN	-	pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	ENSG00000100767		0.637	PAPLN-002	KNOWN	basic|appris_principal	protein_coding	PAPLN	HGNC	protein_coding	OTTHUMT00000413182.1		0.00	43	0	C	NM_173462		73730411	+1			no_errors	ENST00000427855	ensembl	human	known	74_37	missense	5.45	51	3	SNP	0.001	T
PAQR3	152559	genome.wustl.edu	37	4	79847847	79847847	+	Missense_Mutation	SNP	G	G	T			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr4:79847847G>T	ENST00000512733.1	-	4	743	c.530C>A	c.(529-531)aCa>aAa	p.T177K	PAQR3_ENST00000380645.4_Missense_Mutation_p.T177K|PAQR3_ENST00000295462.3_3'UTR|PAQR3_ENST00000515541.1_5'Flank	NM_001040202.1	NP_001035292.1	Q6TCH7	PAQR3_HUMAN	progestin and adipoQ receptor family member III	177					negative regulation of MAP kinase activity (GO:0043407)|negative regulation of neuron projection development (GO:0010977)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein phosphorylation (GO:0001933)|protein localization to Golgi apparatus (GO:0034067)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	8						AGCAAGCACTGTGATCAAGTA	0.388																																																	0													164.0	156.0	159.0					4																	79847847		2203	4300	6503	SO:0001583	missense	0			AK055774	CCDS34020.1	4q21	2008-02-05				ENSG00000163291			30130	protein-coding gene	gene with protein product		614577				16044242	Standard	XM_006714104		Approved		uc003hlp.1	Q6TCH7		ENST00000512733.1:c.530C>A	4.37:g.79847847G>T	ENSP00000421981:p.Thr177Lys		A8K5B7|B3KP59|Q6PIQ1|Q86X05|Q8NCP9	Missense_Mutation	SNP	pfam_HlyIII-related	p.T177K	ENST00000512733.1	37	c.530	CCDS34020.1	4	.	.	.	.	.	.	.	.	.	.	G	14.82	2.648654	0.47258	.	.	ENSG00000163291	ENST00000512733;ENST00000380645	T;T	0.30448	1.53;1.53	5.97	4.96	0.65561	.	0.043489	0.85682	D	0.000000	T	0.42944	0.1225	M	0.71036	2.16	0.80722	D	1	B	0.20780	0.048	B	0.36504	0.226	T	0.41052	-0.9530	10	0.59425	D	0.04	-21.9416	16.0865	0.81056	0.0739:0.0:0.9261:0.0	.	177	Q6TCH7	PAQR3_HUMAN	K	177	ENSP00000421981:T177K;ENSP00000370019:T177K	ENSP00000344203:T177K	T	-	2	0	PAQR3	80066871	1.000000	0.71417	0.999000	0.59377	0.121000	0.20230	6.707000	0.74654	2.836000	0.97738	0.655000	0.94253	ACA	PAQR3	-	pfam_HlyIII-related	ENSG00000163291		0.388	PAQR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAQR3	HGNC	protein_coding	OTTHUMT00000363442.1		0.00	55	0	G	NM_177453		79847847	-1			no_errors	ENST00000511594	ensembl	human	known	74_37	missense	5.63	67	4	SNP	0.998	T
PCDH15	65217	genome.wustl.edu	37	10	55973782	55973782	+	Missense_Mutation	SNP	A	A	G			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr10:55973782A>G	ENST00000320301.6	-	10	1406	c.1012T>C	c.(1012-1014)Ttc>Ctc	p.F338L	PCDH15_ENST00000395438.1_Missense_Mutation_p.F338L|PCDH15_ENST00000361849.3_Missense_Mutation_p.F338L|PCDH15_ENST00000395440.1_Missense_Mutation_p.F338L|PCDH15_ENST00000437009.1_Missense_Mutation_p.F338L|PCDH15_ENST00000373957.3_Missense_Mutation_p.F316L|PCDH15_ENST00000395445.1_Missense_Mutation_p.F338L|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.F343L|PCDH15_ENST00000395430.1_Missense_Mutation_p.F338L|PCDH15_ENST00000373955.1_Missense_Mutation_p.F338L|PCDH15_ENST00000395432.2_Missense_Mutation_p.F301L|PCDH15_ENST00000395442.1_Missense_Mutation_p.F338L|PCDH15_ENST00000395433.1_Missense_Mutation_p.F316L|PCDH15_ENST00000395446.1_Missense_Mutation_p.F338L|PCDH15_ENST00000373965.2_Missense_Mutation_p.F338L	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	338	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TGCATATGGAAAAATCGTGGG	0.368										HNSCC(58;0.16)																																							0													88.0	89.0	89.0					10																	55973782		2203	4300	6503	SO:0001583	missense	0			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.1012T>C	10.37:g.55973782A>G	ENSP00000322604:p.Phe338Leu		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.F338L	ENST00000320301.6	37	c.1012	CCDS7248.1	10	.	.	.	.	.	.	.	.	.	.	A	15.65	2.896089	0.52121	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000395445;ENST00000395446;ENST00000395442;ENST00000395440;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.54071	0.59;0.59;0.59;0.59;0.59;0.59;0.59;1.91;0.59;0.59;0.59;0.59;0.59;0.59;0.59	4.99	3.81	0.43845	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.56321	0.1977	M	0.84773	2.715	0.54753	D	0.999988	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.27679	0.008;0.185;0.185;0.09;0.017;0.185;0.008;0.029;0.09;0.185;0.004;0.012;0.006;0.019;0.09	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.29353	0.011;0.071;0.071;0.053;0.029;0.071;0.011;0.033;0.076;0.101;0.012;0.033;0.044;0.02;0.032	T	0.55698	-0.8100	9	0.42905	T	0.14	.	10.7924	0.46440	0.9223:0.0:0.0777:0.0	.	316;338;338;343;338;301;338;338;338;338;338;343;338;316;338	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	L	338;343;338;338;338;338;338;338;301;338;316;316;338;338;343;338;338	ENSP00000363076:F338L;ENSP00000410304:F343L;ENSP00000378826:F338L;ENSP00000378832:F338L;ENSP00000378833:F338L;ENSP00000378829:F338L;ENSP00000378827:F338L;ENSP00000378820:F301L;ENSP00000354950:F338L;ENSP00000378821:F316L;ENSP00000363068:F316L;ENSP00000322604:F338L;ENSP00000378818:F338L;ENSP00000412628:F338L;ENSP00000363066:F338L	ENSP00000322604:F338L	F	-	1	0	PCDH15	55643788	1.000000	0.71417	0.999000	0.59377	0.968000	0.65278	4.918000	0.63376	0.805000	0.34159	0.455000	0.32223	TTC	PCDH15	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000150275		0.368	PCDH15-001	KNOWN	basic|CCDS	protein_coding	PCDH15	HGNC	protein_coding	OTTHUMT00000048121.2		0.00	32	0	A	NM_033056		55973782	-1			no_errors	ENST00000320301	ensembl	human	known	74_37	missense	5.26	72	4	SNP	1.000	G
PCDH9	5101	genome.wustl.edu	37	13	67802557	67802557	+	Missense_Mutation	SNP	A	A	T			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr13:67802557A>T	ENST00000377865.2	-	1	150	c.16T>A	c.(16-18)Ttt>Att	p.F6I	PCDH9_ENST00000377861.3_Missense_Mutation_p.F6I|PCDH9_ENST00000456367.1_Missense_Mutation_p.F6I|PCDH9_ENST00000328454.5_Missense_Mutation_p.F6I|PCDH9_ENST00000544246.1_Missense_Mutation_p.F6I			Q9HC56	PCDH9_HUMAN	protocadherin 9	6					forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		AACAGGTAAAAATCCCTCAGG	0.398																																																	0													55.0	56.0	56.0					13																	67802557		2203	4300	6503	SO:0001583	missense	0			AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.16T>A	13.37:g.67802557A>T	ENSP00000367096:p.Phe6Ile		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.F6I	ENST00000377865.2	37	c.16	CCDS9444.1	13	.	.	.	.	.	.	.	.	.	.	A	11.33	1.608041	0.28623	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.52295	0.73;0.73;0.67;0.67;0.69	5.82	4.65	0.58169	.	0.312770	0.39985	N	0.001220	T	0.27384	0.0672	N	0.08118	0	0.46185	D	0.998915	B;B;B;B	0.25235	0.003;0.087;0.118;0.121	B;B;B;B	0.26517	0.004;0.048;0.07;0.035	T	0.05954	-1.0854	10	0.22109	T	0.4	.	11.7481	0.51832	0.9313:0.0:0.0687:0.0	.	6;6;6;6	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	I	6	ENSP00000442186:F6I;ENSP00000367096:F6I;ENSP00000401699:F6I;ENSP00000332060:F6I;ENSP00000367092:F6I	ENSP00000332060:F6I	F	-	1	0	PCDH9	66700558	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.148000	0.77389	1.038000	0.40049	-0.256000	0.11100	TTT	PCDH9	-	NULL	ENSG00000184226		0.398	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH9	HGNC	protein_coding	OTTHUMT00000276387.1	-	0.00	86	0	A	NM_203487		67802557	-1	tier1	-	no_errors	ENST00000377865	ensembl	human	known	74_37	missense	39.47	69	45	SNP	1.000	T
C19orf25	148223	genome.wustl.edu	37	19	1481832	1481832	+	5'Flank	SNP	G	G	T			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr19:1481832G>T	ENST00000436106.2	-	0	0				C19orf25_ENST00000588871.1_5'Flank|C19orf25_ENST00000586564.1_5'Flank|C19orf25_ENST00000592872.1_5'Flank|C19orf25_ENST00000591027.1_5'Flank|C19orf25_ENST00000588427.1_5'Flank|C19orf25_ENST00000588849.1_5'Flank|C19orf25_ENST00000585675.1_5'Flank|PCSK4_ENST00000300954.5_Missense_Mutation_p.P732T|C19orf25_ENST00000427685.2_5'Flank|CTB-25B13.6_ENST00000585643.1_RNA			Q9UFG5	CS025_HUMAN	chromosome 19 open reading frame 25														Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGTATAGTGGGAGGTCCATG	0.672																																																	0													25.0	27.0	26.0					19																	1481832		2200	4296	6496	SO:0001631	upstream_gene_variant	0			AK075267	CCDS45898.1	19p13.3	2012-10-24			ENSG00000119559	ENSG00000119559			26711	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_152482		Approved	FLJ36666	uc010dsk.3	Q9UFG5	OTTHUMG00000180092		19.37:g.1481832G>T	Exception_encountered		B3KQN6|Q8N9R7|Q8WV94	Missense_Mutation	SNP	pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,prints_Peptidase_S8_subtilisin-rel	p.P732T	ENST00000436106.2	37	c.2194	CCDS45898.1	19	.	.	.	.	.	.	.	.	.	.	G	10.72	1.429916	0.25726	.	.	ENSG00000115257	ENST00000300954	T	0.68331	-0.32	3.34	2.25	0.28309	.	.	.	.	.	T	0.54791	0.1880	L	0.40543	1.245	0.09310	N	1	P	0.43477	0.808	B	0.39119	0.291	T	0.36962	-0.9726	9	0.35671	T	0.21	.	10.2746	0.43501	0.0:0.2044:0.7956:0.0	.	732	Q6UW60	PCSK4_HUMAN	T	732	ENSP00000300954:P732T	ENSP00000300954:P732T	P	-	1	0	PCSK4	1432832	0.007000	0.16637	0.001000	0.08648	0.023000	0.10783	1.364000	0.34171	0.501000	0.28013	0.305000	0.20034	CCA	PCSK4	-	NULL	ENSG00000115257		0.672	C19orf25-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PCSK4	HGNC	protein_coding	OTTHUMT00000449694.1	-	0.00	26	0	G	NM_152482		1481832	-1	tier1	-	no_errors	ENST00000300954	ensembl	human	known	74_37	missense	20.00	16	4	SNP	0.006	T
PDE4D	5144	genome.wustl.edu	37	5	58882168	58882168	+	Intron	SNP	G	G	T			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr5:58882168G>T	ENST00000340635.6	-	1	631				PDE4D_ENST00000502484.2_Intron|PDE4D_ENST00000360047.5_Missense_Mutation_p.H12N|PDE4D_ENST00000546160.1_Intron|PDE4D_ENST00000502575.1_Intron|PDE4D_ENST00000507116.1_Intron	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific						adrenergic receptor signaling pathway (GO:0071875)|adrenergic receptor signaling pathway involved in positive regulation of heart rate (GO:0086024)|aging (GO:0007568)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|establishment of endothelial barrier (GO:0061028)|multicellular organism growth (GO:0035264)|negative regulation of heart contraction (GO:0045822)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-5 production (GO:0032754)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of receptor activity (GO:0010469)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|smooth muscle contraction (GO:0006939)|T cell receptor signaling pathway (GO:0050852)	calcium channel complex (GO:0034704)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|ATPase binding (GO:0051117)|beta-2 adrenergic receptor binding (GO:0031698)|cAMP binding (GO:0030552)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	ATCCAGGAATGCCTTCTAAAG	0.353																																																	0													254.0	250.0	251.0					5																	58882168		1865	4103	5968	SO:0001627	intron_variant	0				CCDS47213.1, CCDS54858.1, CCDS54859.1, CCDS56369.1, CCDS56370.1, CCDS56371.1, CCDS56372.1, CCDS56373.1	5q12	2010-06-24	2010-06-24				3.1.4.17	"""Phosphodiesterases"""	8783	protein-coding gene	gene with protein product	"""phosphodiesterase E3 dunce homolog (Drosophila)"""	600129	"""phosphodiesterase 4D, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E3)"""	DPDE3			Standard	NM_006203		Approved		uc003jsa.2	Q08499		ENST00000340635.6:c.455+306826C>A	5.37:g.58882168G>T			O43433|Q13549|Q13550|Q13551|Q7Z2L8|Q8IV84|Q8IVA9|Q8IVD2|Q8IVD3|Q96HL4|Q9HCX7	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,prints_PDEase	p.H12N	ENST00000340635.6	37	c.34	CCDS47213.1	5	.	.	.	.	.	.	.	.	.	.	G	10.06	1.246607	0.22796	.	.	ENSG00000113448	ENST00000360047	T	0.63913	-0.07	5.64	5.64	0.86602	.	.	.	.	.	T	0.71953	0.3401	.	.	.	0.80722	D	1	P	0.39044	0.656	P	0.48627	0.584	T	0.70382	-0.4887	8	0.51188	T	0.08	.	19.8946	0.96949	0.0:0.0:1.0:0.0	.	11	Q08499-2	.	N	12	ENSP00000353152:H12N	ENSP00000353152:H12N	H	-	1	0	PDE4D	58917925	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.138000	0.77305	2.937000	0.99478	0.650000	0.86243	CAT	PDE4D	-	NULL	ENSG00000113448		0.353	PDE4D-001	KNOWN	basic|CCDS	protein_coding	PDE4D	HGNC	protein_coding	OTTHUMT00000367940.3	-	0.00	73	0	G			58882168	-1	tier1	-	no_errors	ENST00000360047	ensembl	human	known	74_37	missense	6.35	59	4	SNP	1.000	T
PDK3	5165	genome.wustl.edu	37	X	24552067	24552067	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chrX:24552067G>T	ENST00000379162.4	+	11	1334	c.1099G>T	c.(1099-1101)Gag>Tag	p.E367*	PDK3_ENST00000441463.2_Nonsense_Mutation_p.E367*	NM_005391.4	NP_005382.1	Q15120	PDK3_HUMAN	pyruvate dehydrogenase kinase, isozyme 3	367					cell death (GO:0008219)|cellular metabolic process (GO:0044237)|cellular response to fatty acid (GO:0071398)|cellular response to glucose stimulus (GO:0071333)|glucose metabolic process (GO:0006006)|hypoxia-inducible factor-1alpha signaling pathway (GO:0097411)|peptidyl-serine phosphorylation (GO:0018105)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of glucose metabolic process (GO:0010906)|regulation of reactive oxygen species metabolic process (GO:2000377)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)			NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TGAGTCATTTGAGAGACTTCC	0.418																																																	0													59.0	53.0	55.0					X																	24552067		2203	4300	6503	SO:0001587	stop_gained	0			L42452	CCDS14212.1, CCDS48088.1	Xp22.12	2008-02-05	2005-11-16		ENSG00000067992	ENSG00000067992			8811	protein-coding gene	gene with protein product		300906	"""pyruvate dehydrogenase kinase, isoenzyme 3"""			7499431	Standard	NM_001142386		Approved		uc004dbh.3	Q15120	OTTHUMG00000021269	ENST00000379162.4:c.1099G>T	X.37:g.24552067G>T	ENSP00000368460:p.Glu367*		B4DXG6	Nonsense_Mutation	SNP	pfam_BCDHK/PDK_N,pfam_HATPase_ATP-bd,superfamily_BCDHK/PDK_N,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,pfscan_Sig_transdc_His_kinase_core	p.E367*	ENST00000379162.4	37	c.1099	CCDS14212.1	X	.	.	.	.	.	.	.	.	.	.	G	38	7.047429	0.98025	.	.	ENSG00000067992	ENST00000379162;ENST00000441463	.	.	.	5.22	5.22	0.72569	.	0.102891	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-9.3503	17.8988	0.88897	0.0:0.0:1.0:0.0	.	.	.	.	X	367	.	ENSP00000368460:E367X	E	+	1	0	PDK3	24461988	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.263000	0.95617	2.417000	0.82017	0.513000	0.50165	GAG	PDK3	-	NULL	ENSG00000067992		0.418	PDK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDK3	HGNC	protein_coding	OTTHUMT00000056097.1	-	0.00	76	0	G	NM_005391		24552067	+1	tier1	-	no_errors	ENST00000441463	ensembl	human	known	74_37	nonsense	5.26	72	4	SNP	1.000	T
PENK	5179	genome.wustl.edu	37	8	57358362	57358362	+	Intron	SNP	G	G	A			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr8:57358362G>A	ENST00000314922.3	-	1	215				PENK_ENST00000523051.1_Intron|PENK_ENST00000451791.2_Intron|RP11-17A4.2_ENST00000518662.1_RNA|PENK_ENST00000518770.1_Missense_Mutation_p.R51C|PENK_ENST00000523274.1_5'Flank	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin						aggressive behavior (GO:0002118)|behavioral fear response (GO:0001662)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|startle response (GO:0001964)	extracellular region (GO:0005576)	neuropeptide hormone activity (GO:0005184)			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			CACTCGCCGCGCGCAACACTC	0.682																																																	0													52.0	54.0	53.0					8																	57358362		2203	4300	6503	SO:0001627	intron_variant	0				CCDS6168.1	8q23-q24	2013-02-26				ENSG00000181195		"""Endogenous ligands"""	8831	protein-coding gene	gene with protein product	"""preproenkephalin"""	131330				6281660	Standard	NM_006211		Approved		uc003xsz.2	P01210		ENST00000314922.3:c.138+12C>T	8.37:g.57358362G>A			B2RC23|Q6FHC6|Q6FHE6	Missense_Mutation	SNP	pfam_Opioid_neupept,prints_Proenkphlin_A	p.R51C	ENST00000314922.3	37	c.151	CCDS6168.1	8	.	.	.	.	.	.	.	.	.	.	G	13.35	2.211134	0.39102	.	.	ENSG00000181195	ENST00000518770	.	.	.	3.16	1.2	0.21068	.	.	.	.	.	T	0.53932	0.1827	.	.	.	0.09310	N	1	D	0.89917	1.0	D	0.64144	0.922	T	0.39143	-0.9628	7	0.87932	D	0	.	5.3926	0.16251	0.0:0.2094:0.522:0.2686	.	51	E5RJ72	.	C	51	.	ENSP00000430592:R51C	R	-	1	0	PENK	57520916	0.000000	0.05858	0.001000	0.08648	0.799000	0.45148	0.135000	0.15952	0.279000	0.22186	0.650000	0.86243	CGC	PENK	-	NULL	ENSG00000181195		0.682	PENK-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PENK	HGNC	protein_coding	OTTHUMT00000378645.1	-	0.00	60	0	G			57358362	-1	tier1	-	no_errors	ENST00000518770	ensembl	human	putative	74_37	missense	19.74	61	15	SNP	0.001	A
PHKA2	5256	genome.wustl.edu	37	X	18912339	18912339	+	Silent	SNP	G	G	A			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chrX:18912339G>A	ENST00000379942.4	-	32	4185	c.3520C>T	c.(3520-3522)Ctg>Ttg	p.L1174L	PHKA2_ENST00000481718.1_5'UTR|PHKA2-AS1_ENST00000452900.1_RNA|PHKA2-AS1_ENST00000439295.1_RNA	NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	1174					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					TGCAAGAACAGCTGACTGGCC	0.562																																																	0													71.0	52.0	58.0					X																	18912339		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.3520C>T	X.37:g.18912339G>A			A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Silent	SNP	pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like	p.L1174	ENST00000379942.4	37	c.3520	CCDS14190.1	X																																																																																			PHKA2	-	NULL	ENSG00000044446		0.562	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHKA2	HGNC	protein_coding	OTTHUMT00000055960.1	-	0.00	42	0	G	NM_000292		18912339	-1	tier1	-	no_errors	ENST00000379942	ensembl	human	known	74_37	silent	6.67	56	4	SNP	1.000	A
PHYKPL	85007	genome.wustl.edu	37	5	177658468	177658468	+	Missense_Mutation	SNP	C	C	T			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr5:177658468C>T	ENST00000308158.5	-	2	350	c.116G>A	c.(115-117)gGg>gAg	p.G39E	PHYKPL_ENST00000476170.2_Missense_Mutation_p.G39E|PHYKPL_ENST00000481811.1_5'Flank	NM_153373.2	NP_699204.1	Q8IUZ5	AT2L2_HUMAN	5-phosphohydroxy-L-lysine phospho-lyase	39						mitochondrion (GO:0005739)	lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)									L-Alanine(DB00160)	CATGTACTGCCCTTGGGCCCG	0.552																																																	0													223.0	184.0	197.0					5																	177658468		2203	4300	6503	SO:0001583	missense	0			BC037567	CCDS4434.1	5q35.3	2013-06-12	2013-06-12	2013-06-12	ENSG00000175309	ENSG00000175309	4.2.3.134		28249	protein-coding gene	gene with protein product	"""5-phosphonooxy-L-lysine phospho-lyase"""	614683	"""alanine-glyoxylate aminotransferase 2-like 2"""	AGXT2L2		22241472	Standard	NM_153373		Approved	MGC15875	uc003miz.3	Q8IUZ5	OTTHUMG00000130892	ENST00000308158.5:c.116G>A	5.37:g.177658468C>T	ENSP00000310978:p.Gly39Glu		A8K7P6|B3KN36|D3DWP9|Q8WYS6|Q96HW8	Missense_Mutation	SNP	pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase	p.G39E	ENST00000308158.5	37	c.116	CCDS4434.1	5	.	.	.	.	.	.	.	.	.	.	C	29.1	4.973776	0.92919	.	.	ENSG00000175309	ENST00000308158;ENST00000476170	T;T	0.52526	0.66;0.66	4.77	4.77	0.60923	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.81399	0.4814	H	0.99545	4.62	0.80722	D	1	D	0.67145	0.996	D	0.70716	0.97	D	0.88000	0.2755	10	0.40728	T	0.16	-4.6061	15.6631	0.77203	0.0:1.0:0.0:0.0	.	39	Q8IUZ5	AT2L2_HUMAN	E	39	ENSP00000310978:G39E;ENSP00000421810:G39E	ENSP00000310978:G39E	G	-	2	0	AGXT2L2	177591074	1.000000	0.71417	0.922000	0.36590	0.740000	0.42216	5.972000	0.70448	2.355000	0.79922	0.655000	0.94253	GGG	PHYKPL	-	pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase	ENSG00000175309		0.552	PHYKPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHYKPL	HGNC	protein_coding	OTTHUMT00000253477.1	-	0.00	42	0	C	NM_032921		177658468	-1	tier1	-	no_errors	ENST00000308158	ensembl	human	known	74_37	missense	38.89	33	21	SNP	1.000	T
PIFO	128344	genome.wustl.edu	37	1	111891292	111891292	+	Intron	SNP	A	A	T			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr1:111891292A>T	ENST00000369738.4	+	4	754				PIFO_ENST00000484512.1_3'UTR|PIFO_ENST00000369737.4_Intron	NM_181643.4	NP_857594.2	Q8TCI5	PIFO_HUMAN	primary cilia formation						cell projection organization (GO:0030030)|positive regulation of kinase activity (GO:0033674)|regulation of cell projection organization (GO:0031344)	ciliary basal body (GO:0036064)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	beta-tubulin binding (GO:0048487)|gamma-tubulin binding (GO:0043015)|kinesin binding (GO:0019894)|protein kinase binding (GO:0019901)|Rab GTPase binding (GO:0017137)										CTTTTGGTGCACTTCAACAAA	0.383																																																	0													202.0	224.0	217.0					1																	111891292		2203	4300	6503	SO:0001627	intron_variant	0			BC050319	CCDS833.1, CCDS72836.1	1p13.2	2012-10-10	2012-10-10	2012-10-10	ENSG00000173947	ENSG00000173947			27009	protein-coding gene	gene with protein product		614234	"""chromosome 1 open reading frame 88"""	C1orf88		20643351	Standard	XM_005270472		Approved	FLJ23853, pitchfork	uc001eaw.2	Q8TCI5	OTTHUMG00000011168	ENST00000369738.4:c.389+24A>T	1.37:g.111891292A>T			D9J0A2|D9J0A3|Q4G0K4|Q52LJ6|Q5T5D5|Q5T5D6|Q8N310	RNA	SNP	-	NULL	ENST00000369738.4	37	NULL	CCDS833.1	1																																																																																			PIFO	-	-	ENSG00000173947		0.383	PIFO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIFO	HGNC	protein_coding	OTTHUMT00000030718.1	-	0.00	55	0	A	NM_181643		111891292	+1	tier1	-	no_errors	ENST00000484512	ensembl	human	known	74_37	rna	9.38	58	6	SNP	0.000	T
PLTP	5360	genome.wustl.edu	37	20	44533745	44533745	+	Missense_Mutation	SNP	G	G	A			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr20:44533745G>A	ENST00000477313.1	-	8	1312	c.718C>T	c.(718-720)Ccc>Tcc	p.P240S	PLTP_ENST00000354050.4_Missense_Mutation_p.P188S|PLTP_ENST00000542937.1_Missense_Mutation_p.P260S|PLTP_ENST00000372431.3_Missense_Mutation_p.P240S|PLTP_ENST00000420868.2_Missense_Mutation_p.P145S|PLTP_ENST00000372420.1_Missense_Mutation_p.P152S			P55058	PLTP_HUMAN	phospholipid transfer protein	240					lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|sperm motility (GO:0030317)|vitamin E biosynthetic process (GO:0010189)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	lipid binding (GO:0008289)			endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21		Myeloproliferative disorder(115;0.0122)				TCAGTCAGGGGGAAGAAGGCC	0.627																																																	0													42.0	45.0	44.0					20																	44533745		2203	4300	6503	SO:0001583	missense	0			L26232	CCDS13386.1, CCDS13387.1, CCDS56196.1, CCDS56197.1	20q13.12	2011-08-16			ENSG00000100979	ENSG00000100979		"""BPI fold containing"""	9093	protein-coding gene	gene with protein product	"""BPI fold containing family E"""	172425					Standard	NM_006227		Approved	BPIFE	uc002xqn.2	P55058	OTTHUMG00000033047	ENST00000477313.1:c.718C>T	20.37:g.44533745G>A	ENSP00000417138:p.Pro240Ser		A8K006|B4DDD5|B4DRB4|E1P5N8|E7EV16|Q8WTT1|Q9BR07|Q9BSH8	Missense_Mutation	SNP	pfam_Lipid-bd_serum_glycop_C,pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C	p.P260S	ENST00000477313.1	37	c.778	CCDS13386.1	20	.	.	.	.	.	.	.	.	.	.	G	11.23	1.578081	0.28180	.	.	ENSG00000100979	ENST00000372420;ENST00000372431;ENST00000354050;ENST00000477313;ENST00000542937;ENST00000420868	T;T;T;T;T;T	0.09350	2.99;2.99;2.99;2.99;2.99;2.99	5.25	5.25	0.73442	Lipid-binding serum glycoprotein, N-terminal (1);Lipid-binding serum glycoprotein, C-terminal (1);Bactericidal permeability-increasing protein, alpha/beta domain (1);	0.456983	0.25058	N	0.033476	T	0.05364	0.0142	N	0.11560	0.145	0.30329	N	0.786791	B;B;B;B;B;B;B	0.32324	0.339;0.339;0.164;0.364;0.314;0.364;0.364	B;B;B;B;B;B;B	0.31686	0.134;0.134;0.133;0.133;0.082;0.133;0.133	T	0.21965	-1.0230	10	0.10377	T	0.69	-34.95	10.5317	0.44981	0.1505:0.0:0.8495:0.0	.	145;145;152;240;188;240;260	E7EV16;B4DRB4;B4DDD5;Q53H91;P55058-2;P55058;B3KUE5	.;.;.;.;.;PLTP_HUMAN;.	S	152;240;188;240;260;145	ENSP00000361497:P152S;ENSP00000361508:P240S;ENSP00000335290:P188S;ENSP00000417138:P240S;ENSP00000440296:P260S;ENSP00000411671:P145S	ENSP00000335290:P188S	P	-	1	0	PLTP	43967152	1.000000	0.71417	0.992000	0.48379	0.806000	0.45545	2.319000	0.43788	2.460000	0.83146	0.563000	0.77884	CCC	PLTP	-	pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N	ENSG00000100979		0.627	PLTP-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PLTP	HGNC	protein_coding	OTTHUMT00000354633.1	-	0.00	21	0	G	NM_006227		44533745	-1	tier1	-	no_errors	ENST00000542937	ensembl	human	known	74_37	missense	31.82	15	7	SNP	0.962	A
PLXNA2	5362	genome.wustl.edu	37	1	208206672	208206672	+	Missense_Mutation	SNP	C	C	T			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr1:208206672C>T	ENST00000367033.3	-	28	5804	c.5047G>A	c.(5047-5049)Gcc>Acc	p.A1683T		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1683					axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		ACCTTGGTGGCCAGTAGCCGG	0.577																																																	0													119.0	108.0	112.0					1																	208206672		2203	4300	6503	SO:0001583	missense	0			X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.5047G>A	1.37:g.208206672C>T	ENSP00000356000:p.Ala1683Thr		A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.A1683T	ENST00000367033.3	37	c.5047	CCDS31013.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.727946	0.96856	.	.	ENSG00000076356	ENST00000367033	T	0.13089	2.62	5.53	5.53	0.82687	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.098877	0.64402	D	0.000001	T	0.36166	0.0957	L	0.53249	1.67	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.03296	-1.1051	10	0.87932	D	0	.	19.4936	0.95062	0.0:1.0:0.0:0.0	.	1683	O75051	PLXA2_HUMAN	T	1683	ENSP00000356000:A1683T	ENSP00000356000:A1683T	A	-	1	0	PLXNA2	206273295	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.538000	0.82048	2.605000	0.88082	0.655000	0.94253	GCC	PLXNA2	-	pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot	ENSG00000076356		0.577	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA2	HGNC	protein_coding	OTTHUMT00000088932.6		0.00	40	0	C	NM_025179		208206672	-1			no_errors	ENST00000367033	ensembl	human	known	74_37	missense	10.26	35	4	SNP	1.000	T
POM121	9883	genome.wustl.edu	37	7	72414028	72414028	+	Missense_Mutation	SNP	A	A	G			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr7:72414028A>G	ENST00000434423.2	+	11	3496	c.3496A>G	c.(3496-3498)Agc>Ggc	p.S1166G	POM121_ENST00000395270.1_Missense_Mutation_p.S901G|POM121_ENST00000358357.3_Missense_Mutation_p.S901G|POM121_ENST00000446813.1_Missense_Mutation_p.S901G|POM121_ENST00000257622.4_Missense_Mutation_p.S901G			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	1166	Pore side. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				CTTCAACGTGAGCAGCACAAC	0.622																																																	0													51.0	51.0	51.0					7																	72414028		2203	4299	6502	SO:0001583	missense	0			AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"""-"""	19702	protein-coding gene	gene with protein product		615753	"""POM121 membrane glycoprotein (rat)"", ""POM121 membrane glycoprotein"""			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000434423.2:c.3496A>G	7.37:g.72414028A>G	ENSP00000405562:p.Ser1166Gly		A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	NULL	p.S1166G	ENST00000434423.2	37	c.3496		7	.	.	.	.	.	.	.	.	.	.	G	0.060	-1.225295	0.01530	.	.	ENSG00000196313	ENST00000446813;ENST00000257622;ENST00000395270;ENST00000358357;ENST00000434423	T;T;T;T;T	0.05258	3.48;3.47;3.48;3.47;3.71	3.01	0.978	0.19740	.	0.632230	0.12989	N	0.422657	T	0.01558	0.0050	N	0.00841	-1.15	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.46735	-0.9170	10	0.09338	T	0.73	.	4.0332	0.09717	0.3363:0.3441:0.3196:0.0	.	901;1166	A8MXF9;Q96HA1	.;P121A_HUMAN	G	901;901;901;901;1166	ENSP00000393020:S901G;ENSP00000257622:S901G;ENSP00000378687:S901G;ENSP00000351124:S901G;ENSP00000405562:S1166G	ENSP00000257622:S901G	S	+	1	0	POM121	72051964	0.054000	0.20591	0.044000	0.18714	0.041000	0.13682	0.107000	0.15375	-0.174000	0.10743	-0.538000	0.04264	AGC	POM121	-	NULL	ENSG00000196313		0.622	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	POM121	HGNC	protein_coding	OTTHUMT00000347344.1		0.00	40	0	A			72414028	+1			no_errors	ENST00000434423	ensembl	human	known	74_37	missense	8.20	56	5	SNP	0.072	G
POSTN	10631	genome.wustl.edu	37	13	38154786	38154786	+	Nonsense_Mutation	SNP	T	T	A			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr13:38154786T>A	ENST00000379747.4	-	11	1558	c.1441A>T	c.(1441-1443)Aga>Tga	p.R481*	POSTN_ENST00000379743.4_Nonsense_Mutation_p.R481*|POSTN_ENST00000541179.1_Nonsense_Mutation_p.R481*|POSTN_ENST00000541481.1_Nonsense_Mutation_p.R481*|POSTN_ENST00000379742.4_Nonsense_Mutation_p.R481*|POSTN_ENST00000379749.4_Nonsense_Mutation_p.R481*	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	481	FAS1 3. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888)	proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802)	heparin binding (GO:0008201)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		GCACCGTTTCTCCCTTGCTTA	0.423																																																	0													274.0	252.0	260.0					13																	38154786		2203	4300	6503	SO:0001587	stop_gained	0			D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.1441A>T	13.37:g.38154786T>A	ENSP00000369071:p.Arg481*		B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Nonsense_Mutation	SNP	pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_EMI_domain,pfscan_FAS1_domain	p.R481*	ENST00000379747.4	37	c.1441	CCDS9364.1	13	.	.	.	.	.	.	.	.	.	.	T	34	5.341472	0.95783	.	.	ENSG00000133110	ENST00000541179;ENST00000379749;ENST00000379747;ENST00000379743;ENST00000379742;ENST00000541481	.	.	.	5.03	2.35	0.29111	.	0.178761	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	-25.3404	11.6471	0.51267	0.0:0.0:0.2813:0.7187	.	.	.	.	X	481	.	ENSP00000369066:R481X	R	-	1	2	POSTN	37052786	0.999000	0.42202	0.980000	0.43619	0.221000	0.24807	2.401000	0.44513	0.836000	0.34901	0.460000	0.39030	AGA	POSTN	-	pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_FAS1_domain	ENSG00000133110		0.423	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	POSTN	HGNC	protein_coding	OTTHUMT00000044566.2	-	0.00	103	0	T	NM_006475		38154786	-1	tier1	-	no_errors	ENST00000379747	ensembl	human	known	74_37	nonsense	15.13	128	23	SNP	1.000	A
PPP6R3	55291	genome.wustl.edu	37	11	68315547	68315547	+	Silent	SNP	T	T	C			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr11:68315547T>C	ENST00000393800.2	+	5	681	c.427T>C	c.(427-429)Tta>Cta	p.L143L	PPP6R3_ENST00000393801.3_Silent_p.L143L|PPP6R3_ENST00000534534.1_Silent_p.L52L|PPP6R3_ENST00000524845.1_Silent_p.L143L|PPP6R3_ENST00000265636.5_Silent_p.L143L|PPP6R3_ENST00000265637.4_Silent_p.L143L|PPP6R3_ENST00000529710.1_Silent_p.L143L|PPP6R3_ENST00000527403.2_Silent_p.L143L|PPP6R3_ENST00000393799.2_Silent_p.L143L|PPP6R3_ENST00000524904.1_Silent_p.L143L	NM_001164161.1|NM_001164162.1|NM_001164163.1	NP_001157633.1|NP_001157634.1|NP_001157635.1	Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	143					regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TGTGGATTTCTTAAAGAAGAA	0.388																																																	0													104.0	100.0	101.0					11																	68315547		2200	4294	6494	SO:0001819	synonymous_variant	0			AF264779	CCDS8182.1, CCDS53671.1, CCDS53672.1, CCDS53673.1, CCDS53674.1, CCDS53675.1	11q13	2012-04-17	2010-06-28	2010-06-28	ENSG00000110075	ENSG00000110075		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	1173	protein-coding gene	gene with protein product	"""sporulation-induced transcript 4-associated protein"""	610879	"""chromosome 11 open reading frame 23"", ""SAPS domain family, member 3"""	C11orf23, SAPS3		11401438, 16769727	Standard	NM_018312		Approved	SAPLa, DKFZp781E2374, DKFZp781O2362, DKFZp781E17107, SAP190, SAPL, PP6R3, FLJ11058, FLJ43065, KIAA1558, MGC125711, MGC125712	uc001onv.3	Q5H9R7		ENST00000393800.2:c.427T>C	11.37:g.68315547T>C			Q3B7I1|Q3I4Y0|Q3KR35|Q68CR3|Q7L4R8|Q8N3B2|Q96MB2|Q9H2K5|Q9H2K6|Q9HCL4|Q9NUY3	Silent	SNP	pfam_SAPS,superfamily_ARM-type_fold	p.L143	ENST00000393800.2	37	c.427	CCDS53672.1	11																																																																																			PPP6R3	-	pfam_SAPS,superfamily_ARM-type_fold	ENSG00000110075		0.388	PPP6R3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPP6R3	HGNC	protein_coding	OTTHUMT00000395275.1	-	0.00	91	0	T	NM_018312		68315547	+1	tier1	-	no_errors	ENST00000393799	ensembl	human	known	74_37	silent	21.43	88	24	SNP	0.998	C
PRAMEF4	400735	genome.wustl.edu	37	1	12943147	12943147	+	Silent	SNP	T	T	C			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr1:12943147T>C	ENST00000235349.5	-	2	139	c.69A>G	c.(67-69)caA>caG	p.Q23Q		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	23					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGGCCAAAGCTTGGTCCCTTA	0.572																																																	0													121.0	123.0	123.0					1																	12943147		2185	4281	6466	SO:0001819	synonymous_variant	0				CCDS30592.1	1p36.21	2013-01-17			ENSG00000243073	ENSG00000243073		"""-"""	31971	protein-coding gene	gene with protein product							Standard	NM_001009611		Approved	RP5-845O24.6	uc001aun.2	O60810	OTTHUMG00000001987	ENST00000235349.5:c.69A>G	1.37:g.12943147T>C			Q5LJB5	Silent	SNP	NULL	p.Q23	ENST00000235349.5	37	c.69	CCDS30592.1	1																																																																																			PRAMEF4	-	NULL	ENSG00000243073		0.572	PRAMEF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF4	HGNC	protein_coding	OTTHUMT00000005518.1	-	0.00	208	0	T	NM_001009611		12943147	-1	tier1	-	no_errors	ENST00000235349	ensembl	human	known	74_37	silent	17.17	193	40	SNP	0.000	C
PRDM9	56979	genome.wustl.edu	37	5	23527721	23527721	+	Missense_Mutation	SNP	C	C	T	rs201643800		TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr5:23527721C>T	ENST00000296682.3	+	11	2706	c.2524C>T	c.(2524-2526)Cgc>Tgc	p.R842C		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	842					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)			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						GCGGGGCTTTCGCAATAAGTC	0.587										HNSCC(3;0.000094)																																							0								A	CYS/ARG	1,4363		0,1,2181	64.0	74.0	71.0		2524	1.5	0.0	5		71	1,8589		0,1,4294	no	missense	PRDM9	NM_020227.2	180	0,2,6475	TT,TC,CC		0.0116,0.0229,0.0154	possibly-damaging	842/895	23527721	2,12952	2182	4295	6477	SO:0001583	missense	0			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.2524C>T	5.37:g.23527721C>T	ENSP00000296682:p.Arg842Cys		B4DX22|Q27Q50	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_SSXRD_motif,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.R842C	ENST00000296682.3	37	c.2524	CCDS43307.1	5	.	.	.	.	.	.	.	.	.	.	A	14.50	2.555271	0.45487	2.29E-4	1.16E-4	ENSG00000164256	ENST00000296682	T	0.08282	3.11	2.67	1.45	0.22620	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05044	0.0135	N	0.25286	0.73	0.09310	N	1	B	0.19583	0.037	B	0.20184	0.028	T	0.42982	-0.9419	9	0.59425	D	0.04	0.1175	0.5976	0.00739	0.4516:0.2128:0.1287:0.207	.	842	Q9NQV7	PRDM9_HUMAN	C	842	ENSP00000296682:R842C	ENSP00000296682:R842C	R	+	1	0	PRDM9	23563478	0.000000	0.05858	0.005000	0.12908	0.001000	0.01503	-0.822000	0.04448	0.037000	0.15575	-0.566000	0.04163	CGC	PRDM9	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000164256		0.587	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM9	HGNC	protein_coding	OTTHUMT00000366375.1	-	0.00	102	0	C	NM_020227		23527721	+1	tier1	-	no_errors	ENST00000296682	ensembl	human	known	74_37	missense	22.96	102	31	SNP	0.053	T
PRKG1	5592	genome.wustl.edu	37	10	53814284	53814284	+	Missense_Mutation	SNP	C	C	A			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr10:53814284C>A	ENST00000401604.2	+	6	952	c.758C>A	c.(757-759)gCa>gAa	p.A253E	PRKG1_ENST00000373985.1_Missense_Mutation_p.A241E|PRKG1_ENST00000373980.4_Missense_Mutation_p.A268E|PRKG1_ENST00000373975.2_5'UTR			Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	253	cGMP-binding, low affinity.				actin cytoskeleton organization (GO:0030036)|blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|dendrite development (GO:0016358)|forebrain development (GO:0030900)|negative regulation of platelet aggregation (GO:0090331)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|regulation of GTPase activity (GO:0043087)|relaxation of vascular smooth muscle (GO:0060087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		AGGCAAGGTGCAAGAGGGGAC	0.418																																																	0													114.0	101.0	105.0					10																	53814284		2203	4300	6503	SO:0001583	missense	0				CCDS7244.1	10q11.2	2009-07-10			ENSG00000185532	ENSG00000185532	2.7.11.1		9414	protein-coding gene	gene with protein product		176894		PRKGR1B, PRKG1B		2792381, 1544322	Standard	NM_001098512		Approved	PGK, PKG	uc001jjo.3	Q13976	OTTHUMG00000018248	ENST00000401604.2:c.758C>A	10.37:g.53814284C>A	ENSP00000384200:p.Ala253Glu		A5YM56|B3KSF3|E2PU10|P14619|Q5JP05|Q5JSJ6|Q6P5T7	Missense_Mutation	SNP	pirsf_cGMP-dependent_protein_kinase,pfam_Prot_kinase_dom,pfam_cNMP-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,prints_cGMP_dep_kinase,prints_cAMP/cGMP_kin,pfscan_cNMP-bd_dom,pfscan_Prot_kinase_dom	p.A268E	ENST00000401604.2	37	c.803	CCDS44399.1	10	.	.	.	.	.	.	.	.	.	.	C	9.507	1.104831	0.20632	.	.	ENSG00000185532	ENST00000401604;ENST00000373985;ENST00000373980;ENST00000373976	T;T;T;T	0.24723	1.84;1.84;1.84;1.84	5.93	5.93	0.95920	Cyclic nucleotide-binding, conserved site (1);Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.057449	0.64402	D	0.000002	T	0.09905	0.0243	N	0.01431	-0.87	0.80722	D	1	B;B	0.27068	0.167;0.081	B;B	0.25614	0.062;0.061	T	0.20538	-1.0272	10	0.02654	T	1	-18.6034	17.8375	0.88704	0.0:1.0:0.0:0.0	.	268;253	Q13976-2;Q13976	.;KGP1_HUMAN	E	253;241;268;126	ENSP00000384200:A253E;ENSP00000363097:A241E;ENSP00000363092:A268E;ENSP00000363087:A126E	ENSP00000363087:A126E	A	+	2	0	PRKG1	53484290	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.348000	0.79366	2.802000	0.96397	0.563000	0.77884	GCA	PRKG1	-	pirsf_cGMP-dependent_protein_kinase,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_cAMP/cGMP_kin,pfscan_cNMP-bd_dom	ENSG00000185532		0.418	PRKG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKG1	HGNC	protein_coding		-	0.00	35	0	C			53814284	+1	tier1	-	no_errors	ENST00000373980	ensembl	human	known	74_37	missense	24.00	38	12	SNP	1.000	A
PRF1	5551	genome.wustl.edu	37	10	72357828	72357828	+	Missense_Mutation	SNP	C	C	A			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr10:72357828C>A	ENST00000441259.1	-	3	1809	c.1649G>T	c.(1648-1650)cGg>cTg	p.R550L	PRF1_ENST00000373209.2_Missense_Mutation_p.R550L	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	550					apoptotic process (GO:0006915)|cellular defense response (GO:0006968)|cytolysis (GO:0019835)|defense response to tumor cell (GO:0002357)|defense response to virus (GO:0051607)|immune response to tumor cell (GO:0002418)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)	cytolytic granule (GO:0044194)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|wide pore channel activity (GO:0022829)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						GGCCCCACTCCGGTTTCCTGG	0.582			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis																														yes	Rec			10	10q22	5551	perforin 1 (pore forming protein)		L	0													51.0	53.0	52.0					10																	72357828		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	BC047695	CCDS7305.1	10q22	2014-09-17			ENSG00000180644	ENSG00000180644			9360	protein-coding gene	gene with protein product	"""Perforin"", ""perforin 1 (preforming protein)"""	170280				1505959, 2592021	Standard	NM_005041		Approved	PFP, P1, HPLH2	uc001jrf.4	P14222	OTTHUMG00000018412	ENST00000441259.1:c.1649G>T	10.37:g.72357828C>A	ENSP00000398568:p.Arg550Leu		B2R6X4|Q59F57|Q86WX7	Missense_Mutation	SNP	pfam_MACPF,pfam_C2_dom,superfamily_C2_dom,smart_MACPF,smart_C2_dom,pfscan_C2_dom	p.R550L	ENST00000441259.1	37	c.1649	CCDS7305.1	10	.	.	.	.	.	.	.	.	.	.	C	21.1	4.094911	0.76870	.	.	ENSG00000180644	ENST00000373209;ENST00000441259;ENST00000318971	D;D	0.92299	-3.01;-3.01	5.97	5.06	0.68205	.	0.455646	0.23579	N	0.046677	D	0.93523	0.7933	M	0.80028	2.48	0.32452	N	0.545266	D	0.56035	0.974	P	0.48982	0.597	D	0.95258	0.8366	10	0.72032	D	0.01	-38.3939	13.2272	0.59921	0.0:0.8407:0.1593:0.0	.	550	P14222	PERF_HUMAN	L	550	ENSP00000362305:R550L;ENSP00000398568:R550L	ENSP00000316746:R550L	R	-	2	0	PRF1	72027834	0.996000	0.38824	0.996000	0.52242	0.688000	0.40055	1.814000	0.38972	1.510000	0.48803	-0.176000	0.13171	CGG	PRF1	-	NULL	ENSG00000180644		0.582	PRF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRF1	HGNC	protein_coding	OTTHUMT00000048517.2	-	0.00	58	0	C	NM_005041		72357828	-1	tier1	-	no_errors	ENST00000373209	ensembl	human	known	74_37	missense	12.50	49	7	SNP	1.000	A
PRMT8	56341	genome.wustl.edu	37	12	3702948	3702948	+	3'UTR	SNP	G	G	A			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr12:3702948G>A	ENST00000382622.3	+	0	2175				PRMT8_ENST00000261252.4_3'UTR	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8						histone arginine methylation (GO:0034969)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			TCTCAGAGGAGATTCTGTTGC	0.448																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF263539	CCDS8521.2, CCDS58200.1	12p13.3	2006-03-03	2006-02-16	2006-02-16	ENSG00000111218	ENSG00000111218		"""Protein arginine methyltransferases"""	5188	protein-coding gene	gene with protein product		610086	"""HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)"", ""HMT1 hnRNP methyltransferase-like 4 (S. cerevisiae)"""	HRMT1L3, HRMT1L4		16051612	Standard	NM_019854		Approved		uc001qmf.4	Q9NR22	OTTHUMG00000128493	ENST00000382622.3:c.*600G>A	12.37:g.3702948G>A			B2RDP0|Q8TBJ8	RNA	SNP	-	NULL	ENST00000382622.3	37	NULL	CCDS8521.2	12																																																																																			PRMT8	-	-	ENSG00000111218		0.448	PRMT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRMT8	HGNC	protein_coding	OTTHUMT00000250297.2	-	0.00	77	0	G	NM_019854		3702948	+1	tier1	-	no_errors	ENST00000261252	ensembl	human	known	74_37	rna	5.95	78	5	SNP	1.000	A
PROK1	84432	genome.wustl.edu	37	1	110996633	110996633	+	Silent	SNP	C	C	T			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr1:110996633C>T	ENST00000271331.3	+	2	140	c.123C>T	c.(121-123)agC>agT	p.S41S	RP11-470L19.5_ENST00000481350.2_RNA	NM_032414.2	NP_115790.1	P58294	PROK1_HUMAN	prokineticin 1	41					activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|regulation of angiogenesis (GO:0045765)	extracellular region (GO:0005576)				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|skin(1)|stomach(1)	9		all_cancers(81;6.23e-06)|all_epithelial(167;2.12e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0239)|all cancers(265;0.0699)|Epithelial(280;0.0753)|Colorectal(144;0.105)|LUSC - Lung squamous cell carcinoma(189;0.135)		GTGCCATCAGCCTGTGGCTTC	0.622																																																	0													58.0	53.0	55.0					1																	110996633		2203	4300	6503	SO:0001819	synonymous_variant	0			AF333024	CCDS825.1	1p21	2013-02-28			ENSG00000143125	ENSG00000143125		"""Endogenous ligands"""	18454	protein-coding gene	gene with protein product	"""black mamba toxin-related protein"", ""mambakine"""	606233				11259612	Standard	NM_032414		Approved	PK1, PRK1, EGVEGF	uc001dzs.3	P58294	OTTHUMG00000011569	ENST00000271331.3:c.123C>T	1.37:g.110996633C>T			Q5VWD4|Q8TC69	Silent	SNP	pfam_Prokineticin_domain	p.S41	ENST00000271331.3	37	c.123	CCDS825.1	1																																																																																			PROK1	-	pfam_Prokineticin_domain	ENSG00000143125		0.622	PROK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PROK1	HGNC	protein_coding	OTTHUMT00000031969.1	-	0.00	47	0	C	NM_032414		110996633	+1	tier1	-	no_errors	ENST00000271331	ensembl	human	known	74_37	silent	22.45	38	11	SNP	1.000	T
PSD3	23362	genome.wustl.edu	37	8	18729696	18729696	+	Silent	SNP	C	C	T			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr8:18729696C>T	ENST00000327040.8	-	3	780	c.678G>A	c.(676-678)caG>caA	p.Q226Q	PSD3_ENST00000523619.1_Silent_p.Q161Q|PSD3_ENST00000440756.2_Silent_p.Q226Q	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	226					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		AAATCTCTGCCTGAGTGTCTC	0.478																																																	0													100.0	97.0	98.0					8																	18729696		1908	4119	6027	SO:0001819	synonymous_variant	0			AF243495	CCDS34854.1, CCDS43720.1	8p21.3	2013-01-10			ENSG00000156011	ENSG00000156011		"""Pleckstrin homology (PH) domain containing"""	19093	protein-coding gene	gene with protein product		614440					Standard	NM_206909		Approved	KIAA0942, HCA67, EFA6R, DKFZp761K1423	uc003wza.3	Q9NYI0	OTTHUMG00000163711	ENST00000327040.8:c.678G>A	8.37:g.18729696C>T			A6NFQ4|E9KL50|Q6B003|Q9Y2F1	Silent	SNP	pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom	p.Q226	ENST00000327040.8	37	c.678	CCDS43720.1	8																																																																																			PSD3	-	NULL	ENSG00000156011		0.478	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PSD3	HGNC	protein_coding	OTTHUMT00000374867.1	-	0.00	92	0	C	NM_015310		18729696	-1	tier1	-	no_errors	ENST00000440756	ensembl	human	known	74_37	silent	22.86	81	24	SNP	0.654	T
PTCHD2	57540	genome.wustl.edu	37	1	11579485	11579485	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr1:11579485G>T	ENST00000294484.6	+	8	2101	c.1963G>T	c.(1963-1965)Gga>Tga	p.G655*	PTCHD2_ENST00000389575.3_Nonsense_Mutation_p.G655*	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	655					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CGAGCAGGTTGGAGGCAGCCC	0.642																																																	0													137.0	150.0	146.0					1																	11579485		2014	4181	6195	SO:0001587	stop_gained	0			AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.1963G>T	1.37:g.11579485G>T	ENSP00000294484:p.Gly655*		Q5VTU9|Q9UJD6	Nonsense_Mutation	SNP	pfam_Patched,pfam_MMPL_dom,pfscan_SSD	p.G655*	ENST00000294484.6	37	c.1963	CCDS41247.1	1	.	.	.	.	.	.	.	.	.	.	g	32	5.110448	0.94292	.	.	ENSG00000204624	ENST00000294484;ENST00000389575	.	.	.	5.52	4.55	0.56014	.	0.426067	0.23618	N	0.046273	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-25.7645	13.3131	0.60390	0.0:0.158:0.842:0.0	.	.	.	.	X	655	.	ENSP00000294484:G655X	G	+	1	0	PTCHD2	11502072	0.519000	0.26242	0.050000	0.19076	0.010000	0.07245	1.554000	0.36266	2.602000	0.87976	0.651000	0.88453	GGA	PTCHD2	-	pfam_Patched	ENSG00000204624		0.642	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PTCHD2	HGNC	protein_coding	OTTHUMT00000005770.2		0.00	27	0	G	XM_052561		11579485	+1			no_errors	ENST00000294484	ensembl	human	known	74_37	nonsense	5.56	34	2	SNP	0.035	T
PTPRD	5789	genome.wustl.edu	37	9	8389292	8389292	+	Missense_Mutation	SNP	C	C	A			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr9:8389292C>A	ENST00000381196.4	-	34	4869	c.4326G>T	c.(4324-4326)atG>atT	p.M1442I	PTPRD_ENST00000397611.3_Missense_Mutation_p.M1032I|PTPRD_ENST00000537002.1_Missense_Mutation_p.M1032I|PTPRD_ENST00000360074.4_Missense_Mutation_p.M1429I|PTPRD_ENST00000358503.5_Missense_Mutation_p.M1420I|PTPRD_ENST00000486161.1_Missense_Mutation_p.M1035I|PTPRD_ENST00000397617.3_Missense_Mutation_p.M1035I|PTPRD_ENST00000540109.1_Missense_Mutation_p.M1442I|PTPRD_ENST00000355233.5_Missense_Mutation_p.M1036I|PTPRD_ENST00000356435.5_Missense_Mutation_p.M1442I|PTPRD_ENST00000397606.3_Missense_Mutation_p.M1035I	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1442	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GTTCCCATATCATTCTCCAAA	0.393										TSP Lung(15;0.13)																																							0													182.0	175.0	177.0					9																	8389292		2203	4300	6503	SO:0001583	missense	0			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.4326G>T	9.37:g.8389292C>A	ENSP00000370593:p.Met1442Ile		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt	p.M1442I	ENST00000381196.4	37	c.4326	CCDS43786.1	9	.	.	.	.	.	.	.	.	.	.	C	34	5.404097	0.96051	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	D;D;D;D;D;D;D;D;D;D;D	0.87256	-2.23;-2.23;-2.23;-2.23;-2.23;-2.23;-2.23;-2.23;-2.23;-2.23;-2.23	5.83	5.83	0.93111	Protein-tyrosine phosphatase, receptor/non-receptor type (4);	0.000000	0.85682	D	0.000000	D	0.96999	0.9020	H	0.99368	4.535	0.80722	D	1	P;P;P;P;D;P;D;D;D	0.89917	0.777;0.777;0.777;0.777;1.0;0.736;1.0;0.986;1.0	P;P;P;P;D;P;D;D;D	0.91635	0.719;0.719;0.719;0.719;0.996;0.598;0.997;0.986;0.999	D	0.98300	1.0518	9	.	.	.	.	20.119	0.97953	0.0:1.0:0.0:0.0	.	1035;1026;1035;1036;1032;1032;1429;1442;1442	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	I	1442;1442;1429;1420;1036;1035;1032;1032;913;1442;1035;1035	ENSP00000370593:M1442I;ENSP00000348812:M1442I;ENSP00000353187:M1429I;ENSP00000351293:M1420I;ENSP00000347373:M1036I;ENSP00000380741:M1035I;ENSP00000380735:M1032I;ENSP00000440515:M1032I;ENSP00000438164:M1442I;ENSP00000417093:M1035I;ENSP00000380731:M1035I	.	M	-	3	0	PTPRD	8379292	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.763000	0.94921	0.555000	0.69702	ATG	PTPRD	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	ENSG00000153707		0.393	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRD	HGNC	protein_coding	OTTHUMT00000055395.3		0.00	96	0	C			8389292	-1			no_errors	ENST00000356435	ensembl	human	known	74_37	missense	5.06	75	4	SNP	1.000	A
QRFPR	84109	genome.wustl.edu	37	4	122258023	122258023	+	Splice_Site	SNP	C	C	A			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr4:122258023C>A	ENST00000394427.2	-	3	911	c.500G>T	c.(499-501)gGt>gTt	p.G167V	QRFPR_ENST00000334383.5_Splice_Site_p.G167V	NM_198179.2	NP_937822.2	Q96P65	QRFPR_HUMAN	pyroglutamylated RFamide peptide receptor	167					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)			endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						CCAGACCACACCTGTAAAAGT	0.433																																																	0													201.0	190.0	194.0					4																	122258023		2203	4300	6503	SO:0001630	splice_region_variant	0			AF411117	CCDS3719.1	4q27	2012-08-10	2008-12-18	2008-12-18	ENSG00000186867	ENSG00000186867		"""GPCR / Class A : RF amide peptide receptors"""	15565	protein-coding gene	gene with protein product		606925	"""G protein-coupled receptor 103"""	GPR103		11574155	Standard	NM_198179		Approved		uc010inj.1	Q96P65	OTTHUMG00000133036	ENST00000394427.2:c.500-1G>T	4.37:g.122258023C>A				Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NPFF_rcpt	p.G167V	ENST00000394427.2	37	c.500	CCDS3719.1	4	.	.	.	.	.	.	.	.	.	.	C	5.538	0.284209	0.10513	.	.	ENSG00000186867	ENST00000394427;ENST00000334383	T;T	0.35421	1.31;1.31	5.21	4.37	0.52481	GPCR, rhodopsin-like superfamily (1);	0.046925	0.85682	D	0.000000	T	0.17577	0.0422	N	0.10945	0.07	0.80722	D	1	P;B	0.34546	0.456;0.121	B;B	0.31946	0.138;0.063	T	0.06499	-1.0823	10	0.05833	T	0.94	.	14.3371	0.66598	0.0:0.9279:0.0:0.0721	.	167;167	Q96P65;G4XH69	QRFPR_HUMAN;.	V	167	ENSP00000377948:G167V;ENSP00000335610:G167V	ENSP00000335610:G167V	G	-	2	0	QRFPR	122477473	0.998000	0.40836	0.999000	0.59377	0.933000	0.57130	3.968000	0.56809	1.313000	0.45069	0.585000	0.79938	GGT	QRFPR	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000186867		0.433	QRFPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QRFPR	HGNC	protein_coding	OTTHUMT00000256641.2	-	0.00	62	0	C	NM_198179	Missense_Mutation	122258023	-1	tier1	-	no_errors	ENST00000394427	ensembl	human	known	74_37	missense	25.53	35	12	SNP	1.000	A
QTRTD1	79691	genome.wustl.edu	37	3	113801499	113801499	+	Intron	SNP	G	G	T			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr3:113801499G>T	ENST00000493014.1	+	5	648				QTRTD1_ENST00000281273.4_Intron|QTRTD1_ENST00000479882.1_Intron|QTRTD1_ENST00000485050.1_Intron	NM_001256836.1	NP_001243765.1			queuine tRNA-ribosyltransferase domain containing 1											central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|skin(2)	10						CATCATTCAAGCCTTTTTATT	0.303																																																	0													60.0	65.0	63.0					3																	113801499		2203	4288	6491	SO:0001627	intron_variant	0			AK023022	CCDS33828.1, CCDS58846.1, CCDS58845.1, CCDS58844.1	3q13.31	2010-11-16			ENSG00000151576	ENSG00000151576			25771	protein-coding gene	gene with protein product						12477932	Standard	NM_024638		Approved	FLJ12960	uc003eaz.4	Q9H974	OTTHUMG00000159336	ENST00000493014.1:c.581-25G>T	3.37:g.113801499G>T				RNA	SNP	-	NULL	ENST00000493014.1	37	NULL	CCDS58845.1	3																																																																																			QTRTD1	-	-	ENSG00000151576		0.303	QTRTD1-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	QTRTD1	HGNC	protein_coding	OTTHUMT00000354711.1	-	0.00	35	0	G	NM_024638		113801499	+1	tier1	-	no_errors	ENST00000462869	ensembl	human	putative	74_37	rna	22.22	28	8	SNP	0.998	T
RAB2B	84932	genome.wustl.edu	37	14	21943014	21943014	+	Intron	SNP	T	T	C			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr14:21943014T>C	ENST00000397762.1	-	3	287				TOX4_ENST00000405508.1_5'Flank|TOX4_ENST00000448790.2_5'Flank|RAB2B_ENST00000461909.1_Intron|TOX4_ENST00000262709.3_5'Flank	NM_001163380.1|NM_032846.3	NP_001156852.1|NP_116235.2	Q8WUD1	RAB2B_HUMAN	RAB2B, member RAS oncogene family						positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			NS(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	6	all_cancers(95;0.000858)		Epithelial(56;1.53e-06)|all cancers(55;1.44e-05)	GBM - Glioblastoma multiforme(265;0.00391)		CTAAATTATTTTGTACTCTCA	0.433																																					Melanoma(131;1007 1750 28652 34486 42672)												0													132.0	122.0	126.0					14																	21943014		2203	4300	6503	SO:0001627	intron_variant	0			AK027730	CCDS9570.1	14q11.1	2006-12-18			ENSG00000129472	ENSG00000129472		"""RAB, member RAS oncogene"""	20246	protein-coding gene	gene with protein product		607466				12376746	Standard	NM_032846		Approved	FLJ14824	uc010tlt.2	Q8WUD1	OTTHUMG00000029693	ENST00000397762.1:c.186+11A>G	14.37:g.21943014T>C			B2RD03|D3DS24|Q6NZ33	RNA	SNP	-	NULL	ENST00000397762.1	37	NULL	CCDS9570.1	14																																																																																			RAB2B	-	-	ENSG00000129472		0.433	RAB2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB2B	HGNC	protein_coding	OTTHUMT00000074053.4	-	0.00	39	0	T			21943014	-1	tier1	-	no_errors	ENST00000475857	ensembl	human	known	74_37	rna	5.97	63	4	SNP	0.003	C
RAB3GAP2	25782	genome.wustl.edu	37	1	220330778	220330778	+	Missense_Mutation	SNP	G	G	A	rs369410531		TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr1:220330778G>A	ENST00000358951.2	-	31	3505	c.3389C>T	c.(3388-3390)gCg>gTg	p.A1130V		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	1130					establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of GTPase activity (GO:0043087)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme activator activity (GO:0008047)|enzyme regulator activity (GO:0030234)|GTPase activator activity (GO:0005096)|protein heterodimerization activity (GO:0046982)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		GGAGAGCCACGCATCCTCAGT	0.502																																																	0								G	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	111.0	99.0	103.0		3389	3.6	0.1	1		103	0,8600		0,0,4300	no	missense	RAB3GAP2	NM_012414.3	64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	1130/1394	220330778	1,13005	2203	4300	6503	SO:0001583	missense	0			AB020646	CCDS31028.1	1q41	2014-03-03			ENSG00000118873	ENSG00000118873			17168	protein-coding gene	gene with protein product		609275				15696165, 16532399, 24482476	Standard	NM_012414		Approved	RAB3-GAP150, KIAA0839, DKFZP434D245, SPG69	uc010puk.1	Q9H2M9	OTTHUMG00000037139	ENST00000358951.2:c.3389C>T	1.37:g.220330778G>A	ENSP00000351832:p.Ala1130Val		A6H8V0|O75872|Q9HAB0|Q9UFJ7|Q9UQ15	Missense_Mutation	SNP	superfamily_WD40_repeat_dom	p.A1130V	ENST00000358951.2	37	c.3389	CCDS31028.1	1	.	.	.	.	.	.	.	.	.	.	G	7.358	0.624306	0.14193	2.27E-4	0.0	ENSG00000118873	ENST00000358951	T	0.33438	1.41	5.47	3.6	0.41247	.	0.278782	0.39834	N	0.001253	T	0.18800	0.0451	L	0.29908	0.895	0.49299	D	0.999779	B;B	0.34372	0.451;0.451	B;B	0.34242	0.178;0.178	T	0.03840	-1.0999	10	0.02654	T	1	.	11.9408	0.52899	0.1413:0.0:0.8587:0.0	.	1130;1130	Q9H2M9;A6H8V0	RBGPR_HUMAN;.	V	1130	ENSP00000351832:A1130V	ENSP00000351832:A1130V	A	-	2	0	RAB3GAP2	218397401	0.997000	0.39634	0.071000	0.20095	0.988000	0.76386	3.624000	0.54231	0.678000	0.31325	0.655000	0.94253	GCG	RAB3GAP2	-	NULL	ENSG00000118873		0.502	RAB3GAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB3GAP2	HGNC	protein_coding	OTTHUMT00000090205.2		0.00	40	0	G	NM_012414		220330778	-1			no_errors	ENST00000358951	ensembl	human	known	74_37	missense	6.38	44	3	SNP	0.902	A
RFC1	5981	genome.wustl.edu	37	4	39310612	39310612	+	Frame_Shift_Del	DEL	T	T	-			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr4:39310612delT	ENST00000381897.1	-	13	1662	c.1529delA	c.(1528-1530)aatfs	p.N510fs	RFC1_ENST00000349703.2_Frame_Shift_Del_p.N510fs	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	510					DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription, DNA-templated (GO:0045893)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|telomere maintenance via telomerase (GO:0007004)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	cell junction (GO:0030054)|DNA replication factor C complex (GO:0005663)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA clamp loader activity (GO:0003689)|double-stranded DNA binding (GO:0003690)|enzyme activator activity (GO:0008047)|sequence-specific DNA binding (GO:0043565)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						TCCTTGGACATTTTTTTGGGG	0.353																																					Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)												0													62.0	66.0	65.0					4																	39310612		2203	4298	6501	SO:0001589	frameshift_variant	0			L23320	CCDS3450.1, CCDS56329.1	4p14-p13	2010-04-21	2002-08-29		ENSG00000035928	ENSG00000035928		"""ATPases / AAA-type"""	9969	protein-coding gene	gene with protein product		102579	"""replication factor C (activator 1) 1 (145kD)"""			8114700	Standard	NM_002913		Approved	A1, PO-GA, RFC140, MHCBFB	uc003gty.2	P35251	OTTHUMG00000099363	ENST00000381897.1:c.1529delA	4.37:g.39310612delT	ENSP00000371321:p.Asn510fs		A8K6E7|Q5XKF5|Q6PKU0|Q86V41|Q86V46	Frame_Shift_Del	DEL	pfam_DNA_replication_fac_RFC1_C,pfam_BRCT_dom,pfam_ATPase_AAA_core,superfamily_DNA_pol3_clamp-load_cplx_C,superfamily_P-loop_NTPase,superfamily_BRCT_dom,smart_BRCT_dom,smart_AAA+_ATPase,pirsf_DNA_replication_fac_C_lsu,pfscan_BRCT_dom	p.N510fs	ENST00000381897.1	37	c.1529	CCDS56329.1	4																																																																																			RFC1	-	superfamily_P-loop_NTPase,pirsf_DNA_replication_fac_C_lsu	ENSG00000035928		0.353	RFC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RFC1	HGNC	protein_coding	OTTHUMT00000216808.1		0.00	34	0	T	NM_002913		39310612	-1	tier1		no_errors	ENST00000381897	ensembl	human	known	74_37	frame_shift_del	7.69	36	3	DEL	0.089	-
RILPL2	196383	genome.wustl.edu	37	12	123907611	123907613	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	CTC	CTC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr12:123907611_123907613delCTC	ENST00000280571.8	-	3	879_881	c.583_585delGAG	c.(583-585)gagdel	p.E195del		NM_145058.1	NP_659495.1	Q969X0	RIPL2_HUMAN	Rab interacting lysosomal protein-like 2	195					epithelial cell morphogenesis (GO:0003382)|intracellular protein transport (GO:0006886)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|primary cilium (GO:0072372)	identical protein binding (GO:0042802)			endometrium(1)|large_intestine(2)|lung(2)|skin(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000546)|Epithelial(86;0.00179)|all cancers(50;0.0168)		TGATTGTCTTCTCCTCCTTGTTC	0.502																																																	0																																										SO:0001651	inframe_deletion	0			AB085763	CCDS9248.1	12q24.31	2007-11-27				ENSG00000150977			28787	protein-coding gene	gene with protein product		614093				14668488	Standard	NM_145058		Approved	MGC7036, FLJ30380, FLJ32372	uc001uey.1	Q969X0		ENST00000280571.8:c.583_585delGAG	12.37:g.123907614_123907616delCTC	ENSP00000280571:p.Glu195del			In_Frame_Del	DEL	pfam_RILP	p.E195in_frame_del	ENST00000280571.8	37	c.585_583	CCDS9248.1	12																																																																																			RILPL2	-	NULL	ENSG00000150977		0.502	RILPL2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	RILPL2	HGNC	protein_coding			0.00	87	0	CTC	NM_145058		123907613	-1			no_errors	ENST00000280571	ensembl	human	known	74_37	in_frame_del	6.17	76	5	DEL	1.000:1.000:0.998	0
RSRC1	51319	genome.wustl.edu	37	3	158261208	158261208	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr3:158261208G>T	ENST00000295930.3	+	9	1006	c.844G>T	c.(844-846)Gaa>Taa	p.E282*	RSRC1_ENST00000475278.2_Intron|RSRC1_ENST00000464171.1_Nonsense_Mutation_p.E224*|RSRC1_ENST00000312179.6_Nonsense_Mutation_p.E224*|RSRC1_ENST00000480820.1_Nonsense_Mutation_p.E282*|RP11-538P18.2_ENST00000475981.1_RNA	NM_001271838.1|NM_016625.2	NP_001258767.1|NP_057709.2	Q96IZ7	RSRC1_HUMAN	arginine/serine-rich coiled-coil 1	282					mRNA splicing, via spliceosome (GO:0000398)|nucleocytoplasmic transport (GO:0006913)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)				cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	18			Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)			TACTGAAAAAGAAATAGATCC	0.423																																																	0													148.0	135.0	140.0					3																	158261208		2203	4300	6503	SO:0001587	stop_gained	0			AF208853	CCDS3181.1, CCDS63822.1	3q25.32	2009-09-09			ENSG00000174891	ENSG00000174891			24152	protein-coding gene	gene with protein product	"""splicing factor, arginine/serine-rich 21"""	613352				15798186, 19065146	Standard	NM_001271838		Approved	MGC12197, BM-011, SRrp53, SFRS21	uc003fbu.2	Q96IZ7	OTTHUMG00000158758	ENST00000295930.3:c.844G>T	3.37:g.158261208G>T	ENSP00000295930:p.Glu282*		A8K2R9|Q96QK2|Q9NZE5	Nonsense_Mutation	SNP	NULL	p.E282*	ENST00000295930.3	37	c.844	CCDS3181.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.21|12.21	1.870173|1.870173	0.33069|0.33069	.|.	.|.	ENSG00000174891|ENSG00000174891	ENST00000480820;ENST00000295930;ENST00000464171;ENST00000312179|ENST00000482822	.|.	.|.	.|.	5.0|5.0	5.0|5.0	0.66597|0.66597	.|.	0.319538|.	0.29565|.	N|.	0.011793|.	.|T	.|0.74215	.|0.3687	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73509	.|-0.3960	.|4	0.35671|.	T|.	0.21|.	.|.	18.311|18.311	0.90200|0.90200	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|I	282;282;224;224|175	.|.	ENSP00000295930:E282X|.	E|R	+|+	1|2	0|0	RSRC1|RSRC1	159743902|159743902	1.000000|1.000000	0.71417|0.71417	0.935000|0.935000	0.37517|0.37517	0.333000|0.333000	0.28666|0.28666	3.208000|3.208000	0.51114|0.51114	2.495000|2.495000	0.84180|0.84180	0.655000|0.655000	0.94253|0.94253	GAA|AGA	RSRC1	-	NULL	ENSG00000174891		0.423	RSRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSRC1	HGNC	protein_coding	OTTHUMT00000352063.2	-	0.00	54	0	G	NM_016625		158261208	+1	tier1	-	no_errors	ENST00000295930	ensembl	human	known	74_37	nonsense	6.06	62	4	SNP	1.000	T
RTN4RL1	146760	genome.wustl.edu	37	17	1840006	1840006	+	Silent	SNP	G	G	A	rs373766836		TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr17:1840006G>A	ENST00000331238.6	-	2	1589	c.1110C>T	c.(1108-1110)gcC>gcT	p.A370A		NM_178568.2	NP_848663.1			reticulon 4 receptor-like 1											breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						CCTGTTTCCCGGCGCCCGCCT	0.647																																					GBM(68;949 1139 14865 32798 38342)												0								G		0,3806		0,0,1903	26.0	31.0	29.0		1110	-1.0	0.0	17		29	1,8197		0,1,4098	no	coding-synonymous	RTN4RL1	NM_178568.2		0,1,6001	AA,AG,GG		0.0122,0.0,0.0083		370/442	1840006	1,12003	1903	4099	6002	SO:0001819	synonymous_variant	0			AF532859	CCDS45569.1	17p13.3	2008-02-05				ENSG00000185924			21329	protein-coding gene	gene with protein product	"""nogo-66 receptor homolog 2"""	610461					Standard	NM_178568		Approved	NGRH2, NgR3, DKFZp547J144	uc002ftp.3	Q86UN2		ENST00000331238.6:c.1110C>T	17.37:g.1840006G>A				Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.A370	ENST00000331238.6	37	c.1110	CCDS45569.1	17																																																																																			RTN4RL1	-	NULL	ENSG00000185924		0.647	RTN4RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTN4RL1	HGNC	protein_coding	OTTHUMT00000450155.2	-	0.00	62	0	G	NM_178568		1840006	-1	tier1	-	no_errors	ENST00000331238	ensembl	human	known	74_37	silent	56.79	35	46	SNP	0.011	A
SACS	26278	genome.wustl.edu	37	13	23908710	23908710	+	Nonsense_Mutation	SNP	A	A	T			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr13:23908710A>T	ENST00000382292.3	-	9	9578	c.9305T>A	c.(9304-9306)tTa>tAa	p.L3102*	SACS_ENST00000402364.1_Nonsense_Mutation_p.L2352*|SACS_ENST00000382298.3_Nonsense_Mutation_p.L3102*			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	3102					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AAATGTCATTAAAAAAGATCT	0.353																																																	0													53.0	52.0	52.0					13																	23908710		2203	4300	6503	SO:0001587	stop_gained	0			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.9305T>A	13.37:g.23908710A>T	ENSP00000371729:p.Leu3102*		O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Nonsense_Mutation	SNP	pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup	p.L3102*	ENST00000382292.3	37	c.9305	CCDS9300.2	13	.	.	.	.	.	.	.	.	.	.	A	57	29.935795	0.99976	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	.	.	.	5.75	5.75	0.90469	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.0506	0.80760	1.0:0.0:0.0:0.0	.	.	.	.	X	3102;2352;3102	.	ENSP00000371729:L3102X	L	-	2	0	SACS	22806710	1.000000	0.71417	0.844000	0.33320	0.985000	0.73830	8.962000	0.93254	2.189000	0.69895	0.454000	0.30748	TTA	SACS	-	NULL	ENSG00000151835		0.353	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SACS	HGNC	protein_coding	OTTHUMT00000044148.3	-	0.00	32	0	A	NM_014363		23908710	-1	tier1	-	no_errors	ENST00000382292	ensembl	human	known	74_37	nonsense	35.14	24	13	SNP	1.000	T
SALL1	6299	genome.wustl.edu	37	16	51175223	51175223	+	Missense_Mutation	SNP	C	C	T			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr16:51175223C>T	ENST00000251020.4	-	2	943	c.910G>A	c.(910-912)Gcc>Acc	p.A304T	SALL1_ENST00000440970.1_Missense_Mutation_p.A207T|SALL1_ENST00000562674.1_5'Flank|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	304					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GATTGGCTGGCGAGGCTCTGT	0.532																																					GBM(103;1352 1446 1855 4775 8890)												0													85.0	87.0	87.0					16																	51175223		2198	4300	6498	SO:0001583	missense	0			X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.910G>A	16.37:g.51175223C>T	ENSP00000251020:p.Ala304Thr		Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A304T	ENST00000251020.4	37	c.910	CCDS10747.1	16	.	.	.	.	.	.	.	.	.	.	C	21.3	4.135318	0.77662	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	T;T	0.07800	3.17;3.16	4.55	4.55	0.56014	.	0.000000	0.85682	D	0.000000	T	0.23451	0.0567	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.02588	-1.1137	10	0.20519	T	0.43	-14.2178	17.4968	0.87719	0.0:1.0:0.0:0.0	.	304	Q9NSC2	SALL1_HUMAN	T	304;207;268	ENSP00000251020:A304T;ENSP00000407914:A207T	ENSP00000251020:A304T	A	-	1	0	SALL1	49732724	1.000000	0.71417	0.994000	0.49952	0.976000	0.68499	7.637000	0.83313	2.338000	0.79540	0.491000	0.48974	GCC	SALL1	-	NULL	ENSG00000103449		0.532	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SALL1	HGNC	protein_coding	OTTHUMT00000256883.2	-	0.00	44	0	C	NM_002968		51175223	-1	tier1	-	no_errors	ENST00000251020	ensembl	human	known	74_37	missense	31.71	28	13	SNP	1.000	T
SATB2	23314	genome.wustl.edu	37	2	200173631	200173631	+	Missense_Mutation	SNP	T	T	G			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr2:200173631T>G	ENST00000417098.1	-	10	2408	c.1592A>C	c.(1591-1593)aAc>aCc	p.N531T	SATB2_ENST00000443023.1_Missense_Mutation_p.N472T|SATB2_ENST00000260926.5_Missense_Mutation_p.N531T|SATB2_ENST00000428695.1_Missense_Mutation_p.N413T|SATB2_ENST00000457245.1_Missense_Mutation_p.N531T	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	531					cartilage development (GO:0051216)|cellular response to organic substance (GO:0071310)|chromatin remodeling (GO:0006338)|embryonic pattern specification (GO:0009880)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|osteoblast development (GO:0002076)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GAGGGTGCGGTTTTCTGGGCT	0.557																																					Colon(30;262 767 11040 24421 36230)												0													105.0	87.0	93.0					2																	200173631		2203	4300	6503	SO:0001583	missense	0			AB028957	CCDS2327.1	2q33.1	2011-06-20	2007-02-15		ENSG00000119042	ENSG00000119042		"""Homeoboxes / CUT class"""	21637	protein-coding gene	gene with protein product		608148	"""SATB family member 2"""				Standard	NM_015265		Approved	KIAA1034, FLJ21474	uc002uva.2	Q9UPW6	OTTHUMG00000132767	ENST00000417098.1:c.1592A>C	2.37:g.200173631T>G	ENSP00000401112:p.Asn531Thr		A8K5Z8|Q3ZB87|Q4V763	Missense_Mutation	SNP	pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT	p.N531T	ENST00000417098.1	37	c.1592	CCDS2327.1	2	.	.	.	.	.	.	.	.	.	.	T	29.4	5.000262	0.93227	.	.	ENSG00000119042	ENST00000417098;ENST00000443023;ENST00000260926;ENST00000428695;ENST00000457245	T;T;T;T;T	0.51325	0.71;0.72;0.71;0.75;0.71	5.21	5.21	0.72293	Homeodomain protein CUT (2);Lambda repressor-like, DNA-binding (2);	0.000000	0.85682	D	0.000000	T	0.65512	0.2698	L	0.57536	1.79	0.58432	D	0.999999	D;D	0.76494	0.995;0.999	D;D	0.91635	0.949;0.999	T	0.68557	-0.5377	10	0.87932	D	0	-23.9457	15.5441	0.76081	0.0:0.0:0.0:1.0	.	413;531	Q3ZB87;Q9UPW6	.;SATB2_HUMAN	T	531;472;531;413;531	ENSP00000401112:N531T;ENSP00000388764:N472T;ENSP00000260926:N531T;ENSP00000388581:N413T;ENSP00000405420:N531T	ENSP00000260926:N531T	N	-	2	0	SATB2	199881876	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.825000	0.86693	2.317000	0.78254	0.459000	0.35465	AAC	SATB2	-	pfam_Hmoeo_CUT,superfamily_Lambda_DNA-bd_dom,pfscan_Hmoeo_CUT	ENSG00000119042		0.557	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SATB2	HGNC	protein_coding	OTTHUMT00000256140.1		0.00	44	0	T	NM_015265		200173631	-1			no_errors	ENST00000260926	ensembl	human	known	74_37	missense	8.57	32	3	SNP	1.000	G
SGCA	6442	genome.wustl.edu	37	17	48247597	48247597	+	Missense_Mutation	SNP	G	G	A			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr17:48247597G>A	ENST00000262018.3	+	7	877	c.841G>A	c.(841-843)Gcc>Acc	p.A281T	SGCA_ENST00000344627.6_Intron|HILS1_ENST00000504307.1_RNA|SGCA_ENST00000543315.1_Intron|SGCA_ENST00000513942.1_Intron	NM_000023.2	NP_000014.1	Q16586	SGCA_HUMAN	sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)	281					muscle contraction (GO:0006936)|muscle organ development (GO:0007517)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1)	14						ACCCACTGAGGCCCCAGACCG	0.617																																																	0													123.0	105.0	111.0					17																	48247597		2203	4300	6503	SO:0001583	missense	0			L34355	CCDS32679.1, CCDS45729.1	17q21	2014-09-17	2002-08-29		ENSG00000108823	ENSG00000108823			10805	protein-coding gene	gene with protein product	"""50kD DAG"", ""Sarcoglycan, alpha (50kD dystrophin-associated glycoprotein; adhalin)"", ""adhalin (limb girdle muscular dystrophy 2D)"""	600119	"""sarcoglycan, alpha (50kD dystrophin-associated glycoprotein)"""	ADL		7937874	Standard	NM_000023		Approved	SCARMD1, LGMD2D, adhalin, DMDA2, A2	uc002iqi.3	Q16586	OTTHUMG00000162024	ENST00000262018.3:c.841G>A	17.37:g.48247597G>A	ENSP00000262018:p.Ala281Thr		A6NEB8|A8K3K7|Q13710|Q13712	Missense_Mutation	SNP	pfam_Sarcoglycan_2,superfamily_Cadherin-like,smart_Cadg	p.A281T	ENST00000262018.3	37	c.841	CCDS32679.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.77|13.77	2.336154|2.336154	0.41398|0.41398	.|.	.|.	ENSG00000108823|ENSG00000108823	ENST00000262018|ENST00000504073	D|.	0.97642|.	-4.47|.	5.8|5.8	5.8|5.8	0.92144|0.92144	.|.	0.126363|.	0.53938|.	D|.	0.000046|.	T|T	0.58892|0.58892	0.2154|0.2154	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	P|.	0.47034|.	0.889|.	B|.	0.43658|.	0.426|.	T|T	0.54302|0.54302	-0.8314|-0.8314	10|5	0.21014|.	T|.	0.42|.	-32.9593|-32.9593	12.2044|12.2044	0.54345|0.54345	0.0789:0.0:0.9211:0.0|0.0789:0.0:0.9211:0.0	.|.	281|.	Q16586|.	SGCA_HUMAN|.	T|D	281|53	ENSP00000262018:A281T|.	ENSP00000262018:A281T|.	A|G	+|+	1|2	0|0	SGCA|SGCA	45602596|45602596	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.967000|0.967000	0.64934|0.64934	1.735000|1.735000	0.38176|0.38176	2.755000|2.755000	0.94549|0.94549	0.655000|0.655000	0.94253|0.94253	GCC|GGC	SGCA	-	pfam_Sarcoglycan_2	ENSG00000108823		0.617	SGCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGCA	HGNC	protein_coding	OTTHUMT00000366841.1		0.00	54	0	G	NM_000023		48247597	+1			no_errors	ENST00000262018	ensembl	human	known	74_37	missense	5.71	66	4	SNP	1.000	A
SH3BP5	9467	genome.wustl.edu	37	3	15373833	15373835	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	TCC	TCC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr3:15373833_15373835delTCC	ENST00000383791.3	-	1	301_303	c.81_83delGGA	c.(79-84)gaggaa>gaa	p.27_28EE>E	SH3BP5_ENST00000426925.1_Intron|SH3BP5_ENST00000253688.5_5'UTR|SH3BP5_ENST00000465894.2_Intron|SH3BP5_ENST00000408919.3_Intron	NM_004844.4	NP_004835.2	O60239	3BP5_HUMAN	SH3-domain binding protein 5 (BTK-associated)	27	Glu-rich.				intracellular signal transduction (GO:0035556)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	protein kinase inhibitor activity (GO:0004860)			NS(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	12						catcccctcttcctcctcctcct	0.719																																																	0									,	55,4009		2,51,1979					,	1.1	0.1			22	132,7808		3,126,3841	no	coding,intron	SH3BP5	NM_004844.3,NM_001018009.2	,	5,177,5820	A1A1,A1R,RR		1.6625,1.3533,1.5578	,	,		187,11817				SO:0001651	inframe_deletion	0			AB005047	CCDS2625.2, CCDS43055.1	3p24.3	2008-07-10			ENSG00000131370	ENSG00000131370			10827	protein-coding gene	gene with protein product	"""SH3 binding protein"""	605612				9571151, 10339589	Standard	NM_004844		Approved	Sab	uc003bzp.2	O60239	OTTHUMG00000129859	ENST00000383791.3:c.81_83delGGA	3.37:g.15373842_15373844delTCC	ENSP00000373301:p.Glu29del		B3KQW6|Q5JWV9	In_Frame_Del	DEL	pfam_SH3-bd_5	p.E29in_frame_del	ENST00000383791.3	37	c.83_81	CCDS2625.2	3																																																																																			SH3BP5	-	NULL	ENSG00000131370		0.719	SH3BP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3BP5	HGNC	protein_coding	OTTHUMT00000340740.2		0.00	8	0	TCC	NM_004844		15373835	-1	tier1		no_errors	ENST00000383791	ensembl	human	known	74_37	in_frame_del	33.33	8	4	DEL	0.983:0.997:0.997	-
SLC23A2	9962	genome.wustl.edu	37	20	4850569	4850569	+	Frame_Shift_Del	DEL	G	G	-			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr20:4850569delG	ENST00000379333.1	-	12	1625	c.1233delC	c.(1231-1233)cccfs	p.P411fs	SNORA31_ENST00000516287.1_RNA|SLC23A2_ENST00000338244.1_Frame_Shift_Del_p.P411fs|SLC23A2_ENST00000468355.1_5'UTR|SLC23A2_ENST00000424750.2_Frame_Shift_Del_p.P297fs	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	411					L-ascorbic acid metabolic process (GO:0019852)|L-ascorbic acid transport (GO:0015882)|molecular hydrogen transport (GO:0015993)|nucleobase transport (GO:0015851)|nucleobase-containing compound metabolic process (GO:0006139)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|transepithelial L-ascorbic acid transport (GO:0070904)|vitamin metabolic process (GO:0006766)|vitamin transmembrane transport (GO:0035461)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-ascorbate:sodium symporter activity (GO:0008520)|L-ascorbic acid transporter activity (GO:0015229)|nucleobase transmembrane transporter activity (GO:0015205)|sodium-dependent L-ascorbate transmembrane transporter activity (GO:0070890)|sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)	p.I412fs*4(1)		endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TTGCGTGGATGGGGGGGGGTG	0.527																																																	1	Deletion - Frameshift(1)	ovary(1)											65.0	70.0	68.0					20																	4850569		2203	4300	6503	SO:0001589	frameshift_variant	0			AF058319	CCDS13085.1	20p13	2013-07-18	2013-07-18	2003-03-21	ENSG00000089057	ENSG00000089057		"""Solute carriers"""	10973	protein-coding gene	gene with protein product		603791	"""solute carrier family 23 (nucleobase transporters), member 1"""	SLC23A1		9804989, 10331392	Standard	NM_005116		Approved	SVCT2, KIAA0238, YSPL2	uc002wlh.1	Q9UGH3	OTTHUMG00000031793	ENST00000379333.1:c.1233delC	20.37:g.4850569delG	ENSP00000368637:p.Pro411fs		B4DJZ1|Q8WWR4|Q92512|Q96D54|Q9UNU1|Q9UP85	Frame_Shift_Del	DEL	pfam_Xant/urac/vitC	p.I412fs	ENST00000379333.1	37	c.1233	CCDS13085.1	20																																																																																			SLC23A2	-	pfam_Xant/urac/vitC	ENSG00000089057		0.527	SLC23A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC23A2	HGNC	protein_coding	OTTHUMT00000077832.1		0.00	30	0	G			4850569	-1	tier1		no_errors	ENST00000338244	ensembl	human	known	74_37	frame_shift_del	21.21	26	7	DEL	0.974	-
SLC27A6	28965	genome.wustl.edu	37	5	128363000	128363000	+	Missense_Mutation	SNP	G	G	T			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr5:128363000G>T	ENST00000262462.4	+	7	2440	c.1430G>T	c.(1429-1431)tGg>tTg	p.W477L	SLC27A6_ENST00000506176.1_Missense_Mutation_p.W477L|SLC27A6_ENST00000395266.1_Missense_Mutation_p.W477L			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	477					long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|transmembrane transport (GO:0055085)|very long-chain fatty acid metabolic process (GO:0000038)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		CTTTATTTTTGGGACCGTACT	0.368																																																	0													119.0	110.0	113.0					5																	128363000		2203	4300	6503	SO:0001583	missense	0			AF064254	CCDS4145.1	5q23.3	2013-05-22			ENSG00000113396	ENSG00000113396		"""Acyl-CoA synthetase family"", ""Solute carriers"""	11000	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 2"""	604196				12556534, 10479480	Standard	XM_005271967		Approved	FATP6, VLCS-H1, FACVL2, ACSVL2	uc003kuy.3	Q9Y2P4	OTTHUMG00000128991	ENST00000262462.4:c.1430G>T	5.37:g.128363000G>T	ENSP00000262462:p.Trp477Leu		Q6IAM5|Q7Z6E6|Q86YF6	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.W477L	ENST00000262462.4	37	c.1430	CCDS4145.1	5	.	.	.	.	.	.	.	.	.	.	G	13.02	2.111151	0.37242	.	.	ENSG00000113396	ENST00000262462;ENST00000395266;ENST00000506176	T;T;T	0.35048	1.33;1.33;1.33	4.31	3.44	0.39384	AMP-dependent synthetase/ligase (1);	0.450566	0.24165	N	0.040952	T	0.18509	0.0444	N	0.08118	0	0.38946	D	0.958245	B	0.06786	0.001	B	0.06405	0.002	T	0.07121	-1.0789	9	.	.	.	-4.0439	13.2051	0.59790	0.0786:0.0:0.9213:0.0	.	477	Q9Y2P4	S27A6_HUMAN	L	477	ENSP00000262462:W477L;ENSP00000378684:W477L;ENSP00000421024:W477L	.	W	+	2	0	SLC27A6	128390899	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.844000	0.39269	1.417000	0.47077	0.460000	0.39030	TGG	SLC27A6	-	pfam_AMP-dep_Synth/Lig	ENSG00000113396		0.368	SLC27A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC27A6	HGNC	protein_coding	OTTHUMT00000250980.1	-	0.00	38	0	G	NM_014031		128363000	+1	tier1	-	no_errors	ENST00000262462	ensembl	human	known	74_37	missense	40.00	24	16	SNP	1.000	T
SLC44A5	204962	genome.wustl.edu	37	1	75680342	75680342	+	Missense_Mutation	SNP	A	A	C			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr1:75680342A>C	ENST00000370855.5	-	20	1863	c.1750T>G	c.(1750-1752)Ttc>Gtc	p.F584V	SLC44A5_ENST00000535611.1_Missense_Mutation_p.F454V|SLC44A5_ENST00000370859.3_Missense_Mutation_p.F584V	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	584					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						GACCTGCAGAAGTTTCTGCCA	0.383																																																	0													110.0	104.0	106.0					1																	75680342		2203	4300	6503	SO:0001583	missense	0			BC034580	CCDS667.1, CCDS44164.1	1p31.1	2013-05-22			ENSG00000137968	ENSG00000137968		"""Solute carriers"""	28524	protein-coding gene	gene with protein product						15715662	Standard	NM_152697		Approved	MGC34032, CTL5	uc001dgu.3	Q8NCS7	OTTHUMG00000009721	ENST00000370855.5:c.1750T>G	1.37:g.75680342A>C	ENSP00000359892:p.Phe584Val		B5MCU3|Q4G0K0|Q8NA44|Q8NB86	Missense_Mutation	SNP	pfam_Choline_transptr-like	p.F584V	ENST00000370855.5	37	c.1750	CCDS667.1	1	.	.	.	.	.	.	.	.	.	.	A	27.2	4.808319	0.90707	.	.	ENSG00000137968	ENST00000370859;ENST00000536707;ENST00000370855;ENST00000535611;ENST00000535790	T;T;T	0.49432	0.78;0.78;0.78	5.28	5.28	0.74379	.	0.281951	0.43110	D	0.000603	T	0.73001	0.3531	H	0.94771	3.58	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	0.91635	0.999;0.999;0.999;0.998;0.999	T	0.82137	-0.0606	10	0.87932	D	0	-18.6659	15.494	0.75634	1.0:0.0:0.0:0.0	.	578;623;584;584;623	B7Z5Y4;B7Z470;Q8NCS7;Q8NCS7-2;F5GYS0	.;.;CTL5_HUMAN;.;.	V	584;623;584;454;577	ENSP00000359896:F584V;ENSP00000359892:F584V;ENSP00000443090:F454V	ENSP00000359892:F584V	F	-	1	0	SLC44A5	75452930	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.317000	0.96327	2.123000	0.65237	0.533000	0.62120	TTC	SLC44A5	-	pfam_Choline_transptr-like	ENSG00000137968		0.383	SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC44A5	HGNC	protein_coding	OTTHUMT00000026921.1	-	0.00	29	0	A	NM_152697		75680342	-1	tier1	-	no_errors	ENST00000370855	ensembl	human	known	74_37	missense	10.87	41	5	SNP	1.000	C
SLC5A8	160728	genome.wustl.edu	37	12	101598288	101598288	+	Missense_Mutation	SNP	A	A	G			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr12:101598288A>G	ENST00000536262.2	-	2	965	c.407T>C	c.(406-408)aTt>aCt	p.I136T		NM_145913.3	NP_666018.3			solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8											breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TGTTTGAACAATGAAGAGGAC	0.338																																					GBM(60;420 1056 13605 22380 47675)												0													65.0	65.0	65.0					12																	101598288		2203	4299	6502	SO:0001583	missense	0			AY081220	CCDS9080.1	12q23.1	2013-07-19	2013-07-19		ENSG00000256870	ENSG00000256870		"""Solute carriers"""	19119	protein-coding gene	gene with protein product		608044	"""solute carrier family 5 (iodide transporter), member 8"""			12107270, 12829793	Standard	NM_145913		Approved	AIT	uc001thz.4	Q8N695	OTTHUMG00000170499	ENST00000536262.2:c.407T>C	12.37:g.101598288A>G	ENSP00000445340:p.Ile136Thr			Missense_Mutation	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.I136T	ENST00000536262.2	37	c.407	CCDS9080.1	12	.	.	.	.	.	.	.	.	.	.	A	22.6	4.316807	0.81469	.	.	ENSG00000256870	ENST00000536262	D	0.89552	-2.53	5.66	5.66	0.87406	.	0.043301	0.85682	D	0.000000	D	0.92041	0.7478	L	0.48986	1.54	0.80722	D	1	D	0.57257	0.979	D	0.64410	0.925	D	0.91586	0.5283	10	0.41790	T	0.15	.	15.888	0.79269	1.0:0.0:0.0:0.0	.	136	Q8N695	SC5A8_HUMAN	T	136	ENSP00000445340:I136T	ENSP00000445340:I136T	I	-	2	0	SLC5A8	100122419	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.339000	0.96797	2.161000	0.67846	0.454000	0.30748	ATT	SLC5A8	-	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	ENSG00000256870		0.338	SLC5A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A8	HGNC	protein_coding	OTTHUMT00000409401.1	-	0.00	86	0	A	NM_145913		101598288	-1	tier1	-	no_errors	ENST00000536262	ensembl	human	known	74_37	missense	21.18	67	18	SNP	0.999	G
SLC9A6	10479	genome.wustl.edu	37	X	135126632	135126632	+	Missense_Mutation	SNP	G	G	T			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chrX:135126632G>T	ENST00000370698.3	+	16	1794	c.1759G>T	c.(1759-1761)Gat>Tat	p.D587Y	SLC9A6_ENST00000370695.4_Missense_Mutation_p.D619Y|SLC9A6_ENST00000370701.1_Missense_Mutation_p.D567Y	NM_006359.2	NP_006350.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	587					axon extension (GO:0048675)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|dendrite extension (GO:0097484)|dendritic spine development (GO:0060996)|ion transport (GO:0006811)|neuron projection morphogenesis (GO:0048812)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon terminus (GO:0043679)|axonal spine (GO:0044308)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|synapse (GO:0045202)	sodium:proton antiporter activity (GO:0015385)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					GTTGAAAGATGATGATTCTGA	0.383																																																	0													72.0	72.0	72.0					X																	135126632		2203	4300	6503	SO:0001583	missense	0			AF030409	CCDS14654.1, CCDS44003.1, CCDS55504.1	Xq26.3	2013-05-22	2012-03-22		ENSG00000198689	ENSG00000198689		"""Solute carriers"""	11079	protein-coding gene	gene with protein product		300231	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 6"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 6"""			9507001	Standard	NM_001042537		Approved	NHE6, KIAA0267	uc004ezk.3	Q92581	OTTHUMG00000022498	ENST00000370698.3:c.1759G>T	X.37:g.135126632G>T	ENSP00000359732:p.Asp587Tyr		A6NIQ9|A8K160|B4DU30|B7ZAE0|Q3ZCW7|Q5JPP8|Q5JPP9|Q86VS0	Missense_Mutation	SNP	pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.D619Y	ENST00000370698.3	37	c.1855	CCDS14654.1	X	.	.	.	.	.	.	.	.	.	.	G	18.85	3.711947	0.68730	.	.	ENSG00000198689	ENST00000370701;ENST00000370698;ENST00000370695	T;T;T	0.54866	0.55;0.55;0.55	5.48	5.48	0.80851	.	0.046794	0.85682	D	0.000000	T	0.59702	0.2213	M	0.68593	2.085	0.80722	D	1	P;P	0.43973	0.811;0.823	B;P	0.45232	0.359;0.474	T	0.65265	-0.6210	10	0.72032	D	0.01	.	17.4622	0.87622	0.0:0.0:1.0:0.0	.	619;587	Q92581-2;Q92581	.;SL9A6_HUMAN	Y	567;587;619	ENSP00000359735:D567Y;ENSP00000359732:D587Y;ENSP00000359729:D619Y	ENSP00000359729:D619Y	D	+	1	0	SLC9A6	134954298	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.388000	0.97237	2.425000	0.82216	0.600000	0.82982	GAT	SLC9A6	-	prints_Na/H_exchanger_6	ENSG00000198689		0.383	SLC9A6-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	SLC9A6	HGNC	protein_coding	OTTHUMT00000058450.1	-	0.00	48	0	G	NM_006359		135126632	+1	tier1	-	no_errors	ENST00000370695	ensembl	human	known	74_37	missense	6.45	58	4	SNP	1.000	T
SLITRK1	114798	genome.wustl.edu	37	13	84454326	84454326	+	Silent	SNP	G	G	A			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr13:84454326G>A	ENST00000377084.2	-	1	2202	c.1317C>T	c.(1315-1317)tcC>tcT	p.S439S		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	439					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		ATTTCTCCCGGGACAGCGTGT	0.502																																																	0													124.0	117.0	120.0					13																	84454326		2203	4300	6503	SO:0001819	synonymous_variant	0			AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"""leucine rich repeat containing 12"""	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.1317C>T	13.37:g.84454326G>A			Q5U5I6|Q96SF9	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.S439	ENST00000377084.2	37	c.1317	CCDS9464.1	13																																																																																			SLITRK1	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000178235		0.502	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK1	HGNC	protein_coding	OTTHUMT00000045396.1	-	0.00	48	0	G	NM_052910		84454326	-1	tier1	-	no_errors	ENST00000377084	ensembl	human	known	74_37	silent	17.02	39	8	SNP	1.000	A
SMARCA2	6595	genome.wustl.edu	37	9	2115910	2115910	+	Frame_Shift_Del	DEL	A	A	-			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr9:2115910delA	ENST00000382203.1	+	25	3754	c.3545delA	c.(3544-3546)gaafs	p.E1182fs	SMARCA2_ENST00000357248.2_Frame_Shift_Del_p.E1182fs|SMARCA2_ENST00000349721.2_Frame_Shift_Del_p.E1182fs|SMARCA2_ENST00000382194.1_Frame_Shift_Del_p.E1182fs			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	1182	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		AGCGTGGAGGAAAAGATCCTC	0.582																																																	0													44.0	42.0	42.0					9																	2115910		2203	4300	6503	SO:0001589	frameshift_variant	0			D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.3545delA	9.37:g.2115910delA	ENSP00000371638:p.Glu1182fs		B1ALG3|B1ALG4|D3DRH4|D3DRH5	Frame_Shift_Del	DEL	pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,superfamily_RNaseH-like_dom,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain	p.K1183fs	ENST00000382203.1	37	c.3545	CCDS34977.1	9																																																																																			SMARCA2	-	superfamily_P-loop_NTPase,pfscan_Helicase_C	ENSG00000080503		0.582	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	SMARCA2	HGNC	protein_coding	OTTHUMT00000051505.1		0.00	48	0	A	NM_003070		2115910	+1	tier1		no_errors	ENST00000349721	ensembl	human	known	74_37	frame_shift_del	5.41	35	2	DEL	1.000	-
SOS2	6655	genome.wustl.edu	37	14	50623682	50623683	+	Intron	DEL	TA	TA	-	rs3736761|rs374223259	byFrequency	TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	TA	TA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr14:50623682_50623683delTA	ENST00000216373.5	-	12	2332				SOS2_ENST00000543680.1_Intron|SOS2_ENST00000555794.1_5'UTR	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)						apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	DNA binding (GO:0003677)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					tatatatgtgtatatatatata	0.307														79	0.0157748	0.0287	0.0159	5008	,	,		11575	0.0119		0.008	False		,,,				2504	0.0102																0																																										SO:0001627	intron_variant	0			L13858	CCDS9697.1	14q21	2013-01-10	2001-12-04		ENSG00000100485	ENSG00000100485		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11188	protein-coding gene	gene with protein product		601247	"""son of sevenless (Drosophilia) homolog 2"""			8276400	Standard	NM_006939		Approved		uc001wxs.4	Q07890	OTTHUMG00000140292	ENST00000216373.5:c.2057+33TA>-	14.37:g.50623692_50623693delTA			B7ZKT6|D3DSB4|Q15503|Q17RN1	RNA	DEL	-	NULL	ENST00000216373.5	37	NULL	CCDS9697.1	14																																																																																			SOS2	-	-	ENSG00000100485		0.307	SOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOS2	HGNC	protein_coding	OTTHUMT00000276878.2		0.00	71	0	TA			50623683	-1	tier1		no_errors	ENST00000555794	ensembl	human	known	74_37	rna	6.67	70	5	DEL	0.006:0.004	-
SP8	221833	genome.wustl.edu	37	7	20824506	20824506	+	Silent	SNP	C	C	T			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr7:20824506C>T	ENST00000361443.4	-	3	1113	c.876G>A	c.(874-876)ccG>ccA	p.P292P	SP8_ENST00000418710.2_Silent_p.P310P	NM_198956.2	NP_945194.1	Q8IXZ3	SP8_HUMAN	Sp8 transcription factor	292					dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|proximal/distal pattern formation (GO:0009954)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	8						GGGCCGAGTCCGGGTAGGAGC	0.751																																																	0													2.0	2.0	2.0					7																	20824506		1343	2823	4166	SO:0001819	synonymous_variant	0				CCDS5372.1, CCDS43555.1	7p21.2	2013-01-08			ENSG00000164651	ENSG00000164651		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	19196	protein-coding gene	gene with protein product		608306					Standard	NM_182700		Approved		uc003suz.3	Q8IXZ3	OTTHUMG00000094788	ENST00000361443.4:c.876G>A	7.37:g.20824506C>T			Q7Z615|Q7Z616|Q96MJ1	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2,prints_Antifreeze_1	p.P310	ENST00000361443.4	37	c.930	CCDS5372.1	7																																																																																			SP8	-	NULL	ENSG00000164651		0.751	SP8-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	SP8	HGNC	protein_coding	OTTHUMT00000326904.2		0.00	8	0	C			20824506	-1			no_errors	ENST00000418710	ensembl	human	known	74_37	silent	66.67	3	6	SNP	0.992	T
SPAG16	79582	genome.wustl.edu	37	2	214354802	214354802	+	Missense_Mutation	SNP	T	T	C			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr2:214354802T>C	ENST00000331683.5	+	10	1153	c.1058T>C	c.(1057-1059)cTt>cCt	p.L353P	SPAG16_ENST00000374309.3_Missense_Mutation_p.L259P	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	353					cilium assembly (GO:0042384)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		CTCCATGAACTTCCAGTGAGC	0.308																																																	0													55.0	60.0	58.0					2																	214354802		2202	4297	6499	SO:0001583	missense	0			AF310672	CCDS2396.1, CCDS46508.1	2q34	2013-05-21			ENSG00000144451	ENSG00000144451		"""WD repeat domain containing"""	23225	protein-coding gene	gene with protein product		612173				12391165, 11867345	Standard	NM_024532		Approved	PF20, FLJ22724, DKFZp666P1710, WDR29	uc002veq.4	Q8N0X2	OTTHUMG00000133015	ENST00000331683.5:c.1058T>C	2.37:g.214354802T>C	ENSP00000332592:p.Leu353Pro		Q498B7|Q658W1|Q68DB3|Q6I9Z6|Q8N9C7|Q9H601	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.L353P	ENST00000331683.5	37	c.1058	CCDS2396.1	2	.	.	.	.	.	.	.	.	.	.	T	16.91	3.253979	0.59212	.	.	ENSG00000144451	ENST00000331683;ENST00000374309;ENST00000451561	T;T;T	0.80994	-1.44;-1.44;-1.44	5.93	5.93	0.95920	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.170003	0.37530	N	0.002045	D	0.85427	0.5694	L	0.48642	1.525	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;0.999;0.997;1.0	D;D;D;D	0.91635	0.999;0.961;0.953;0.999	D	0.84080	0.0384	10	0.34782	T	0.22	.	12.7704	0.57417	0.0:0.0:0.0:1.0	.	259;204;293;353	B4DYB5;Q8N0X2-2;Q4G1A2;Q8N0X2	.;.;.;SPG16_HUMAN	P	353;259;39	ENSP00000332592:L353P;ENSP00000363428:L259P;ENSP00000416600:L39P	ENSP00000332592:L353P	L	+	2	0	SPAG16	214063047	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	3.991000	0.56973	2.269000	0.75478	0.454000	0.30748	CTT	SPAG16	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000144451		0.308	SPAG16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG16	HGNC	protein_coding	OTTHUMT00000256601.2	-	0.00	53	0	T	NM_024532		214354802	+1	tier1	-	no_errors	ENST00000331683	ensembl	human	known	74_37	missense	23.53	26	8	SNP	1.000	C
SPTA1	6708	genome.wustl.edu	37	1	158592923	158592923	+	Silent	SNP	G	G	A			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr1:158592923G>A	ENST00000368147.4	-	43	6150	c.5970C>T	c.(5968-5970)gaC>gaT	p.D1990D		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1990					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGTCCTTCAGGTCAGTGATCT	0.502																																																	0													309.0	312.0	311.0					1																	158592923		1935	4133	6068	SO:0001819	synonymous_variant	0			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.5970C>T	1.37:g.158592923G>A			Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.D1990	ENST00000368147.4	37	c.5970	CCDS41423.1	1																																																																																			SPTA1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000163554		0.502	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTA1	HGNC	protein_coding	OTTHUMT00000051851.3	-	0.00	30	0	G	NM_003126		158592923	-1	tier1	-	no_errors	ENST00000368147	ensembl	human	known	74_37	silent	32.00	34	16	SNP	0.839	A
SRRT	51593	genome.wustl.edu	37	7	100482040	100482042	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	AGG	AGG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr7:100482040_100482042delAGG	ENST00000347433.4	+	7	967_969	c.809_811delAGG	c.(808-813)caggag>cag	p.E275del	SRRT_ENST00000432932.1_In_Frame_Del_p.E275del|SRRT_ENST00000457580.2_In_Frame_Del_p.E275del|SRRT_ENST00000388793.4_In_Frame_Del_p.E275del			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	275	Glu-rich.				cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						ATCCTGGAGCAGGAGGAGGAGGA	0.596																																																	0																																										SO:0001651	inframe_deletion	0				CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"""arsenite resistance protein"""	614469	"""serrate RNA effector molecule homolog (Arabidopsis)"""			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.809_811delAGG	7.37:g.100482049_100482051delAGG	ENSP00000314491:p.Glu275del		A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	In_Frame_Del	DEL	pfam_Arsenite-R_2,pfam_DUF3546	p.E274in_frame_del	ENST00000347433.4	37	c.809_811	CCDS34709.1	7																																																																																			SRRT	-	NULL	ENSG00000087087		0.596	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	SRRT	HGNC	protein_coding	OTTHUMT00000347168.1		0.00	31	0	AGG	NM_015908		100482042	+1	tier1		no_errors	ENST00000388793	ensembl	human	known	74_37	in_frame_del	16.22	31	6	DEL	1.000:0.996:1.000	-
SSH2	85464	genome.wustl.edu	37	17	27975312	27975312	+	Missense_Mutation	SNP	G	G	A			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr17:27975312G>A	ENST00000269033.3	-	13	1347	c.1196C>T	c.(1195-1197)tCa>tTa	p.S399L	SSH2_ENST00000540801.1_Missense_Mutation_p.S426L|RP11-68I3.2_ENST00000581474.1_RNA|RP11-68I3.11_ENST00000582881.1_RNA	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	399	Tyrosine-protein phosphatase.				actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGTGGAGGCTGAGCGACTCAC	0.468																																																	0													101.0	89.0	93.0					17																	27975312		2203	4300	6503	SO:0001583	missense	0			AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30580	protein-coding gene	gene with protein product		606779	"""slingshot homolog 2 (Drosophila)"""			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.1196C>T	17.37:g.27975312G>A	ENSP00000269033:p.Ser399Leu		Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.S399L	ENST00000269033.3	37	c.1196	CCDS11253.1	17	.	.	.	.	.	.	.	.	.	.	G	36	5.777891	0.96929	.	.	ENSG00000141298	ENST00000269033;ENST00000540801;ENST00000394848	T;T	0.72942	-0.7;-0.7	5.84	5.84	0.93424	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	D	0.92573	0.7641	H	0.99870	4.87	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.95583	0.8648	10	0.87932	D	0	-11.3596	20.1346	0.98019	0.0:0.0:1.0:0.0	.	426;399;399	F5H527;Q76I76-4;Q76I76	.;.;SSH2_HUMAN	L	399;426;399	ENSP00000269033:S399L;ENSP00000444743:S426L	ENSP00000269033:S399L	S	-	2	0	SSH2	24999438	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.765000	0.95021	0.655000	0.94253	TCA	SSH2	-	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	ENSG00000141298		0.468	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSH2	HGNC	protein_coding	OTTHUMT00000256116.1	-	0.00	92	0	G	NM_033389		27975312	-1	tier1	-	no_errors	ENST00000269033	ensembl	human	known	74_37	missense	12.90	108	16	SNP	1.000	A
STAB2	55576	genome.wustl.edu	37	12	104031922	104031922	+	Missense_Mutation	SNP	C	C	T			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr12:104031922C>T	ENST00000388887.2	+	8	1042	c.838C>T	c.(838-840)Ccc>Tcc	p.P280S		NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GCCTGTGGACCCCTGCCAAAT	0.507																																																	0													126.0	110.0	116.0					12																	104031922		2203	4300	6503	SO:0001583	missense	0			AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.838C>T	12.37:g.104031922C>T	ENSP00000373539:p.Pro280Ser			Missense_Mutation	SNP	pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link	p.P280S	ENST00000388887.2	37	c.838	CCDS31888.1	12	.	.	.	.	.	.	.	.	.	.	C	20.8	4.044564	0.75732	.	.	ENSG00000136011	ENST00000388887	T	0.10860	2.83	5.47	5.47	0.80525	.	0.124710	0.53938	D	0.000041	T	0.27629	0.0679	M	0.75264	2.295	0.48395	D	0.999648	D	0.65815	0.995	P	0.53809	0.735	T	0.00852	-1.1540	10	0.40728	T	0.16	.	18.9373	0.92590	0.0:1.0:0.0:0.0	.	280	Q8WWQ8	STAB2_HUMAN	S	280	ENSP00000373539:P280S	ENSP00000373539:P280S	P	+	1	0	STAB2	102556052	0.998000	0.40836	1.000000	0.80357	0.530000	0.34684	6.282000	0.72639	2.567000	0.86603	0.655000	0.94253	CCC	STAB2	-	NULL	ENSG00000136011		0.507	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB2	HGNC	protein_coding	OTTHUMT00000407089.1		0.00	49	0	C			104031922	+1			no_errors	ENST00000388887	ensembl	human	known	74_37	missense	5.56	68	4	SNP	1.000	T
STT3A	3703	genome.wustl.edu	37	11	125489995	125489995	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr11:125489995G>T	ENST00000529196.1	+	18	2259	c.2053G>T	c.(2053-2055)Gaa>Taa	p.E685*	STT3A_ENST00000526364.1_3'UTR|STT3A_ENST00000392708.4_Nonsense_Mutation_p.E685*|STT3A_ENST00000531491.1_Nonsense_Mutation_p.E593*			P46977	STT3A_HUMAN	STT3A, subunit of the oligosaccharyltransferase complex (catalytic)	685					cellular protein metabolic process (GO:0044267)|co-translational protein modification (GO:0043686)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)			NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)		ATATACCACAGAACATTGGCT	0.433																																																	0													102.0	96.0	98.0					11																	125489995		2201	4299	6500	SO:0001587	stop_gained	0			BC020965	CCDS8458.1, CCDS60998.1	11q23.3	2013-03-06	2013-03-06	2006-02-07	ENSG00000134910	ENSG00000134910	2.4.99.18		6172	protein-coding gene	gene with protein product	"""dolichyl-diphosphooligosaccharide protein glycotransferase"""	601134	"""integral membrane protein 1"", ""STT3, subunit of the oligosaccharyltransferase complex, homolog A (S. cerevisiae)"", ""STT3A, cataylic subunit of the oligosaccharyltransferase complex"""	ITM1		8941377, 8634329, 10234787	Standard	NM_152713		Approved	TMC, MGC9042, STT3-A	uc001qcd.2	P46977	OTTHUMG00000165852	ENST00000529196.1:c.2053G>T	11.37:g.125489995G>T	ENSP00000436962:p.Glu685*		B4DJ24|E9PNQ1|Q86XU9|Q8TE35|Q8WUB4	Nonsense_Mutation	SNP	pfam_Oligo_trans_STT3	p.E685*	ENST00000529196.1	37	c.2053	CCDS8458.1	11	.	.	.	.	.	.	.	.	.	.	G	41	8.731751	0.98933	.	.	ENSG00000134910	ENST00000392708;ENST00000529196;ENST00000531491	.	.	.	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-22.9286	19.3767	0.94512	0.0:0.0:1.0:0.0	.	.	.	.	X	685;685;593	.	ENSP00000376472:E685X	E	+	1	0	STT3A	124995205	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.781000	0.99029	2.735000	0.93741	0.655000	0.94253	GAA	STT3A	-	NULL	ENSG00000134910		0.433	STT3A-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	STT3A	HGNC	protein_coding	OTTHUMT00000386691.1		0.00	63	0	G	NM_152713		125489995	+1			no_errors	ENST00000392708	ensembl	human	known	74_37	nonsense	6.33	74	5	SNP	1.000	T
STXBP5	134957	genome.wustl.edu	37	6	147704078	147704078	+	Missense_Mutation	SNP	G	G	C			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr6:147704078G>C	ENST00000321680.6	+	27	3358	c.3358G>C	c.(3358-3360)Gaa>Caa	p.E1120Q	STXBP5_ENST00000367481.3_Missense_Mutation_p.E1084Q|STXBP5_ENST00000367480.3_Missense_Mutation_p.E1067Q|STXBP5_ENST00000179882.6_Missense_Mutation_p.E775Q	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	1120	v-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00290}.				exocytosis (GO:0006887)|negative regulation of exocytosis (GO:0045920)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|synapse (GO:0045202)	syntaxin-1 binding (GO:0017075)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		CGATCTGGAAGAAAGAACTGC	0.448																																																	0													103.0	103.0	103.0					6																	147704078		2203	4300	6503	SO:0001583	missense	0			AK055484	CCDS5211.1, CCDS47499.1	6q24.3	2013-01-10			ENSG00000164506	ENSG00000164506		"""WD repeat domain containing"""	19665	protein-coding gene	gene with protein product		604586				9620695, 14767561	Standard	NM_139244		Approved	tomosyn, LLGL3	uc010khz.2	Q5T5C0	OTTHUMG00000015766	ENST00000321680.6:c.3358G>C	6.37:g.147704078G>C	ENSP00000321826:p.Glu1120Gln		Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	Missense_Mutation	SNP	pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C_dom,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin,prints_Lethal2_giant	p.E1120Q	ENST00000321680.6	37	c.3358	CCDS47499.1	6	.	.	.	.	.	.	.	.	.	.	G	27.7	4.857769	0.91433	.	.	ENSG00000164506	ENST00000367481;ENST00000321680;ENST00000367480;ENST00000179882	T;T;T;T	0.16897	2.4;2.31;2.5;2.98	5.25	5.25	0.73442	Synaptobrevin (1);	0.047953	0.85682	D	0.000000	T	0.30479	0.0766	M	0.82630	2.6	0.80722	D	1	D;P;P	0.53619	0.961;0.948;0.948	P;P;P	0.52159	0.691;0.576;0.652	T	0.19484	-1.0304	10	0.72032	D	0.01	.	19.1971	0.93693	0.0:0.0:1.0:0.0	.	1084;1120;775	Q5T5C0-2;Q5T5C0;B3KXX0	.;STXB5_HUMAN;.	Q	1084;1120;1067;775	ENSP00000356451:E1084Q;ENSP00000321826:E1120Q;ENSP00000356450:E1067Q;ENSP00000179882:E775Q	ENSP00000179882:E775Q	E	+	1	0	STXBP5	147745771	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	9.810000	0.99221	2.617000	0.88574	0.460000	0.39030	GAA	STXBP5	-	pfscan_Synaptobrevin	ENSG00000164506		0.448	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	STXBP5	HGNC	protein_coding	OTTHUMT00000042606.1	-	0.00	48	0	G			147704078	+1	tier1	-	no_errors	ENST00000321680	ensembl	human	known	74_37	missense	35.11	61	33	SNP	1.000	C
STXBP5	134957	genome.wustl.edu	37	6	147704132	147704132	+	Missense_Mutation	SNP	G	G	A			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr6:147704132G>A	ENST00000321680.6	+	27	3412	c.3412G>A	c.(3412-3414)Gag>Aag	p.E1138K	STXBP5_ENST00000367481.3_Missense_Mutation_p.E1102K|STXBP5_ENST00000367480.3_Missense_Mutation_p.E1085K|STXBP5_ENST00000179882.6_Missense_Mutation_p.E793K	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	1138	v-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00290}.				exocytosis (GO:0006887)|negative regulation of exocytosis (GO:0045920)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|synapse (GO:0045202)	syntaxin-1 binding (GO:0017075)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		ACATGCTCATGAGGTACGACT	0.393																																																	0													60.0	62.0	61.0					6																	147704132		2203	4300	6503	SO:0001583	missense	0			AK055484	CCDS5211.1, CCDS47499.1	6q24.3	2013-01-10			ENSG00000164506	ENSG00000164506		"""WD repeat domain containing"""	19665	protein-coding gene	gene with protein product		604586				9620695, 14767561	Standard	NM_139244		Approved	tomosyn, LLGL3	uc010khz.2	Q5T5C0	OTTHUMG00000015766	ENST00000321680.6:c.3412G>A	6.37:g.147704132G>A	ENSP00000321826:p.Glu1138Lys		Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	Missense_Mutation	SNP	pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C_dom,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin,prints_Lethal2_giant	p.E1138K	ENST00000321680.6	37	c.3412	CCDS47499.1	6	.	.	.	.	.	.	.	.	.	.	G	16.67	3.187367	0.57909	.	.	ENSG00000164506	ENST00000367481;ENST00000321680;ENST00000367480;ENST00000179882	T;T;T;T	0.12984	2.67;2.63;2.78;3.24	5.31	5.31	0.75309	Synaptobrevin (1);	0.099426	0.64402	D	0.000002	T	0.09335	0.0230	L	0.41236	1.265	0.80722	D	1	P;P;P	0.47762	0.873;0.9;0.9	B;B;B	0.43331	0.291;0.416;0.416	T	0.12116	-1.0560	10	0.31617	T	0.26	.	19.3423	0.94349	0.0:0.0:1.0:0.0	.	1102;1138;793	Q5T5C0-2;Q5T5C0;B3KXX0	.;STXB5_HUMAN;.	K	1102;1138;1085;793	ENSP00000356451:E1102K;ENSP00000321826:E1138K;ENSP00000356450:E1085K;ENSP00000179882:E793K	ENSP00000179882:E793K	E	+	1	0	STXBP5	147745825	1.000000	0.71417	1.000000	0.80357	0.610000	0.37248	9.810000	0.99221	2.652000	0.90054	0.460000	0.39030	GAG	STXBP5	-	pfscan_Synaptobrevin	ENSG00000164506		0.393	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	STXBP5	HGNC	protein_coding	OTTHUMT00000042606.1	-	0.00	46	0	G			147704132	+1	tier1	-	no_errors	ENST00000321680	ensembl	human	known	74_37	missense	39.06	39	25	SNP	1.000	A
TAF3	83860	genome.wustl.edu	37	10	8006704	8006704	+	Missense_Mutation	SNP	T	T	C			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr10:8006704T>C	ENST00000344293.5	+	3	1437	c.1231T>C	c.(1231-1233)Tct>Cct	p.S411P		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	411					maintenance of protein location in nucleus (GO:0051457)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	zinc ion binding (GO:0008270)			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						CGAATTTTCTTCTGGATCGGA	0.473																																																	0													96.0	92.0	93.0					10																	8006704		1875	4125	6000	SO:0001583	missense	0			AJ292190	CCDS41487.1	10p15.1	2013-01-28	2002-08-29		ENSG00000165632	ENSG00000165632		"""Zinc fingers, PHD-type"""	17303	protein-coding gene	gene with protein product		606576	"""TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140 kD"""			11438666, 18549481	Standard	NM_031923		Approved	TAF140, TAFII140	uc010qbd.3	Q5VWG9	OTTHUMG00000017643	ENST00000344293.5:c.1231T>C	10.37:g.8006704T>C	ENSP00000340271:p.Ser411Pro		Q05DA0|Q6GMS5|Q6P6B5|Q86VY6|Q9BQS9|Q9UFI8	Missense_Mutation	SNP	pfam_BTP,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_Histone-fold,smart_BTP,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.S411P	ENST00000344293.5	37	c.1231	CCDS41487.1	10	.	.	.	.	.	.	.	.	.	.	T	18.40	3.615866	0.66672	.	.	ENSG00000165632	ENST00000344293	T	0.35973	1.28	5.62	5.62	0.85841	.	0.000000	0.64402	D	0.000007	T	0.60534	0.2276	M	0.77616	2.38	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.59511	-0.7441	10	0.30078	T	0.28	-20.7983	15.8234	0.78676	0.0:0.0:0.0:1.0	.	411	Q5VWG9	TAF3_HUMAN	P	411	ENSP00000340271:S411P	ENSP00000340271:S411P	S	+	1	0	TAF3	8046710	1.000000	0.71417	0.998000	0.56505	0.768000	0.43524	7.020000	0.76419	2.148000	0.66965	0.528000	0.53228	TCT	TAF3	-	NULL	ENSG00000165632		0.473	TAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF3	HGNC	protein_coding	OTTHUMT00000046725.1	-	0.00	24	0	T	NM_031923		8006704	+1	tier1	-	no_errors	ENST00000344293	ensembl	human	known	74_37	missense	33.33	31	16	SNP	1.000	C
TCN2	6948	genome.wustl.edu	37	22	31013382	31013382	+	Missense_Mutation	SNP	G	G	T			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr22:31013382G>T	ENST00000215838.3	+	7	1500	c.1006G>T	c.(1006-1008)Gtg>Ttg	p.V336L	TCN2_ENST00000407817.3_Missense_Mutation_p.V309L|TCN2_ENST00000405742.3_Missense_Mutation_p.V332L			P20062	TCO2_HUMAN	transcobalamin II	336					cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	cobalamin binding (GO:0031419)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CACGCTGCAGGTGCTTAGTCT	0.562																																																	0													142.0	107.0	119.0					22																	31013382		2203	4300	6503	SO:0001583	missense	0				CCDS13881.1, CCDS54519.1	22q12.2	2014-09-17	2010-05-11		ENSG00000185339	ENSG00000185339			11653	protein-coding gene	gene with protein product	"""macrocytic anemia"""	613441	"""transcobalamin II; macrocytic anemia"""			1708393, 7742531	Standard	NM_000355		Approved	D22S676, D22S750, TC2	uc003aip.2	P20062	OTTHUMG00000151095	ENST00000215838.3:c.1006G>T	22.37:g.31013382G>T	ENSP00000215838:p.Val336Leu		Q96FD4|Q9BVI8|Q9UCI5|Q9UCI6|Q9UDM0	Missense_Mutation	SNP	pfam_Cbl-bd_transpt_euk,superfamily_Terpenoid_cyclase/PrenylTrfase	p.V336L	ENST00000215838.3	37	c.1006	CCDS13881.1	22	.	.	.	.	.	.	.	.	.	.	G	20.3	3.961013	0.74016	.	.	ENSG00000185339	ENST00000215838;ENST00000405742;ENST00000407817	T;T;T	0.37915	1.17;1.17;1.21	5.08	2.97	0.34412	.	0.259215	0.37577	N	0.002030	T	0.49558	0.1564	M	0.83483	2.645	0.53688	D	0.999972	D;D;D	0.69078	0.996;0.997;0.997	P;P;P	0.55161	0.77;0.698;0.698	T	0.50474	-0.8824	10	0.40728	T	0.16	-18.8995	7.2733	0.26268	0.1979:0.0:0.8021:0.0	.	309;332;336	Q96FD4;B5MBX2;P20062	.;.;TCO2_HUMAN	L	336;332;309	ENSP00000215838:V336L;ENSP00000385914:V332L;ENSP00000384914:V309L	ENSP00000215838:V336L	V	+	1	0	TCN2	29343382	0.999000	0.42202	0.817000	0.32601	0.018000	0.09664	1.997000	0.40786	1.283000	0.44513	0.650000	0.86243	GTG	TCN2	-	NULL	ENSG00000185339		0.562	TCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TCN2	HGNC	protein_coding	OTTHUMT00000321282.2		0.00	63	0	G	NM_000355		31013382	+1			no_errors	ENST00000215838	ensembl	human	known	74_37	missense	5.06	75	4	SNP	0.770	T
TCTE1	202500	genome.wustl.edu	37	6	44255379	44255379	+	Missense_Mutation	SNP	G	G	A	rs200189669		TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr6:44255379G>A	ENST00000371505.4	-	2	306	c.184C>T	c.(184-186)Cgc>Tgc	p.R62C	TCTE1_ENST00000371504.1_5'Flank|TMEM151B_ENST00000438774.2_Intron|TCTE1_ENST00000371503.3_5'UTR|RP11-444E17.6_ENST00000505802.1_Intron	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	62										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ATGATCCGGCGCATCCGACGG	0.547													G|||	1	0.000199681	0.0	0.0	5008	,	,		21435	0.0		0.001	False		,,,				2504	0.0																0													152.0	126.0	135.0					6																	44255379		2203	4300	6503	SO:0001583	missense	0			BC035022	CCDS4910.1	6q21.1	2014-07-18			ENSG00000146221	ENSG00000146221			11693	protein-coding gene	gene with protein product		186975				2568335, 8646886	Standard	NM_182539		Approved	D6S46, MGC33600, FAP155	uc003oxi.2	Q5JU00	OTTHUMG00000014763	ENST00000371505.4:c.184C>T	6.37:g.44255379G>A	ENSP00000360560:p.Arg62Cys		B4DX59|Q8IYS6	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.R62C	ENST00000371505.4	37	c.184	CCDS4910.1	6	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	21.6	4.169399	0.78452	.	.	ENSG00000146221	ENST00000371505	T	0.45276	0.9	5.49	5.49	0.81192	.	0.051998	0.85682	D	0.000000	T	0.64494	0.2603	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.69680	-0.5080	10	0.87932	D	0	-49.0514	19.3731	0.94498	0.0:0.0:1.0:0.0	.	62	Q5JU00	TCTE1_HUMAN	C	62	ENSP00000360560:R62C	ENSP00000360560:R62C	R	-	1	0	TCTE1	44363357	1.000000	0.71417	1.000000	0.80357	0.753000	0.42808	4.179000	0.58290	2.585000	0.87301	0.404000	0.27445	CGC	TCTE1	-	NULL	ENSG00000146221		0.547	TCTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCTE1	HGNC	protein_coding	OTTHUMT00000040736.1		0.00	46	0	G	NM_182539		44255379	-1			no_errors	ENST00000371505	ensembl	human	known	74_37	missense	6.00	47	3	SNP	1.000	A
TDRD3	81550	genome.wustl.edu	37	13	61102581	61102581	+	Missense_Mutation	SNP	A	A	C	rs76903991	byFrequency	TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr13:61102581A>C	ENST00000196169.3	+	11	1731	c.943A>C	c.(943-945)Aat>Cat	p.N315H	TDRD3_ENST00000535286.1_Missense_Mutation_p.N408H|TDRD3_ENST00000377894.2_Missense_Mutation_p.N315H|TDRD3_ENST00000377881.2_Missense_Mutation_p.N315H	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3	315					chromatin modification (GO:0016568)|regulation of RNA biosynthetic process (GO:2001141)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		AAAAGATAATAATCATCTGAG	0.388																																					Colon(36;164 906 35820 50723)												0													102.0	99.0	100.0					13																	61102581		2203	4300	6503	SO:0001583	missense	0			AK023578	CCDS9441.1, CCDS53872.1	13q14.3	2013-01-23			ENSG00000083544	ENSG00000083544		"""Tudor domain containing"""	20612	protein-coding gene	gene with protein product		614392					Standard	NM_030794		Approved	FLJ21007	uc010aeg.3	Q9H7E2	OTTHUMG00000017007	ENST00000196169.3:c.943A>C	13.37:g.61102581A>C	ENSP00000196169:p.Asn315His		B2MWP9|Q53XA6|Q6P992	Missense_Mutation	SNP	pfam_DUF1767,pfam_Tudor,pfam_Survival_motor_neuron,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,smart_Tudor,pfscan_Tudor,pfscan_UBA/transl_elong_EF1B_N_euk	p.N408H	ENST00000196169.3	37	c.1222	CCDS9441.1	13	.	.	.	.	.	.	.	.	.	.	A	11.67	1.707648	0.30322	.	.	ENSG00000083544	ENST00000196169;ENST00000377881;ENST00000377894;ENST00000535286	D;D;D;D	0.94092	-3.34;-3.34;-3.34;-3.35	6.06	4.87	0.63330	.	0.402146	0.29853	N	0.011038	D	0.94377	0.8192	L	0.56769	1.78	0.24546	N	0.994044	P;P;P	0.52170	0.951;0.853;0.814	P;P;B	0.56127	0.792;0.629;0.376	D	0.89130	0.3509	10	0.62326	D	0.03	-10.1728	12.7574	0.57343	0.8769:0.0:0.0:0.1231	.	408;314;315	Q9H7E2-3;Q9H7E2-2;Q9H7E2	.;.;TDRD3_HUMAN	H	315;315;315;408	ENSP00000196169:N315H;ENSP00000367113:N315H;ENSP00000367126:N315H;ENSP00000440190:N408H	ENSP00000196169:N315H	N	+	1	0	TDRD3	60000582	1.000000	0.71417	0.626000	0.29213	0.500000	0.33767	6.302000	0.72788	1.091000	0.41335	0.528000	0.53228	AAT	TDRD3	-	NULL	ENSG00000083544		0.388	TDRD3-201	KNOWN	basic|CCDS	protein_coding	TDRD3	HGNC	protein_coding	OTTHUMT00000045175.2		0.00	48	0	A	NM_030794		61102581	+1			no_errors	ENST00000535286	ensembl	human	known	74_37	missense	12.31	57	8	SNP	0.925	C
TEAD1	7003	genome.wustl.edu	37	11	12904607	12904607	+	Missense_Mutation	SNP	G	G	A			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr11:12904607G>A	ENST00000526600.1	+	4	569	c.346G>A	c.(346-348)Ggc>Agc	p.G116S	TEAD1_ENST00000361985.2_Missense_Mutation_p.G212S|TEAD1_ENST00000527636.1_Missense_Mutation_p.G212S|TEAD1_ENST00000334310.6_Missense_Mutation_p.G201S|TEAD1_ENST00000527575.1_Missense_Mutation_p.G212S|TEAD1_ENST00000361905.4_Missense_Mutation_p.G197S			P28347	TEAD1_HUMAN	TEA domain family member 1 (SV40 transcriptional enhancer factor)	212					gene expression (GO:0010467)|hippo signaling (GO:0035329)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		TCGCTCCATTGGCACAACCAA	0.567																																																	0													122.0	106.0	111.0					11																	12904607		2200	4294	6494	SO:0001583	missense	0			X84839	CCDS7810.1, CCDS7810.2	11p15.4	2008-11-12				ENSG00000187079			11714	protein-coding gene	gene with protein product		189967	"""atrophia areata, peripapillary chorioretinal degeneration"""	TCF13, AA		1851669, 9889009, 15016762	Standard	NM_021961		Approved	TEF-1	uc021qdx.1	P28347		ENST00000526600.1:c.346G>A	11.37:g.12904607G>A	ENSP00000435393:p.Gly116Ser		A4FUP2|E7EV65	Missense_Mutation	SNP	pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,pfscan_TEA/ATTS,prints_TEA/ATTS	p.G197S	ENST00000526600.1	37	c.589		11	.	.	.	.	.	.	.	.	.	.	G	24.6	4.546327	0.86022	.	.	ENSG00000187079	ENST00000361905;ENST00000527636;ENST00000527575;ENST00000334310;ENST00000361985;ENST00000526600	T;T;T;T;T;T	0.28255	1.62;1.62;1.62;1.62;1.62;1.62	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.50411	0.1614	L	0.50333	1.59	0.80722	D	1	D;D;B	0.76494	0.999;0.961;0.237	D;P;B	0.74674	0.984;0.849;0.234	T	0.24368	-1.0162	10	0.27082	T	0.32	-5.6552	19.2007	0.93711	0.0:0.0:1.0:0.0	.	201;116;212	A4FUP2;E9PKB7;P28347	.;.;TEAD1_HUMAN	S	197;212;212;201;212;116	ENSP00000355332:G197S;ENSP00000435233:G212S;ENSP00000435977:G212S;ENSP00000334754:G201S;ENSP00000354588:G212S;ENSP00000435393:G116S	ENSP00000334754:G201S	G	+	1	0	TEAD1	12861183	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.869000	0.99810	2.625000	0.88918	0.655000	0.94253	GGC	TEAD1	-	pfam_TEA/ATTS,pirsf_TEF	ENSG00000187079		0.567	TEAD1-007	PUTATIVE	basic	protein_coding	TEAD1	HGNC	protein_coding	OTTHUMT00000387220.1	-	0.00	54	0	G	NM_021961		12904607	+1	tier1	-	no_errors	ENST00000361905	ensembl	human	known	74_37	missense	24.36	59	19	SNP	1.000	A
TEK	7010	genome.wustl.edu	37	9	27169601	27169601	+	Nonsense_Mutation	SNP	C	C	A	rs540914328		TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr9:27169601C>A	ENST00000380036.4	+	4	1044	c.602C>A	c.(601-603)tCg>tAg	p.S201*	TEK_ENST00000519097.1_Nonsense_Mutation_p.S97*|TEK_ENST00000406359.4_Nonsense_Mutation_p.S201*	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	201					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	CTCTTCACCTCGGCCTTCACC	0.478																																																	0													112.0	103.0	106.0					9																	27169601		2203	4300	6503	SO:0001587	stop_gained	0			L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11724	protein-coding gene	gene with protein product		600221	"""venous malformations, multiple cutaneous and mucosal"""	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.602C>A	9.37:g.27169601C>A	ENSP00000369375:p.Ser201*		A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Nonsense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tyr_kin_Tie2_Ig-like_dom-1_N,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S201*	ENST00000380036.4	37	c.602	CCDS6519.1	9	.	.	.	.	.	.	.	.	.	.	C	39	7.447468	0.98289	.	.	ENSG00000120156	ENST00000519097;ENST00000380036;ENST00000346448;ENST00000406359;ENST00000519080	.	.	.	5.48	5.48	0.80851	.	0.000000	0.44902	D	0.000420	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.3034	0.94151	0.0:1.0:0.0:0.0	.	.	.	.	X	97;201;201;201;54	.	ENSP00000343716:S201X	S	+	2	0	TEK	27159601	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.343000	0.65976	2.739000	0.93911	0.561000	0.74099	TCG	TEK	-	NULL	ENSG00000120156		0.478	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TEK	HGNC	protein_coding	OTTHUMT00000051965.3	-	0.00	55	0	C			27169601	+1	tier1	-	no_errors	ENST00000380036	ensembl	human	known	74_37	nonsense	14.81	46	8	SNP	1.000	A
TFAP2B	7021	genome.wustl.edu	37	6	50807971	50807971	+	Missense_Mutation	SNP	G	G	T			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr6:50807971G>T	ENST00000393655.3	+	6	1212	c.1043G>T	c.(1042-1044)aGt>aTt	p.S348I	TFAP2B_ENST00000263046.4_Missense_Mutation_p.S357I	NM_003221.3	NP_003212.2	Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	348					aorta morphogenesis (GO:0035909)|calcium ion homeostasis (GO:0055074)|cellular ammonia homeostasis (GO:0097275)|cellular creatinine homeostasis (GO:0097276)|cellular urea homeostasis (GO:0097277)|collecting duct development (GO:0072044)|distal tubule development (GO:0072017)|ductus arteriosus closure (GO:0097070)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hindlimb morphogenesis (GO:0035137)|kidney development (GO:0001822)|magnesium ion homeostasis (GO:0010960)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphate ion homeostasis (GO:0055062)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urine volume (GO:0035810)|potassium ion homeostasis (GO:0055075)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell differentiation (GO:0045595)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|renal water homeostasis (GO:0003091)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|retina layer formation (GO:0010842)|skin development (GO:0043588)|sodium ion homeostasis (GO:0055078)|sympathetic nervous system development (GO:0048485)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					ACAGACCCGAGTGACCTGCAC	0.527																																					Pancreas(116;1373 2332 5475 10752)												0													103.0	105.0	104.0					6																	50807971		2203	4300	6503	SO:0001583	missense	0			X95694	CCDS4934.2	6p12	2008-02-05	2001-11-28		ENSG00000008196	ENSG00000008196			11743	protein-coding gene	gene with protein product		601601	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)"""			7555706, 8661133	Standard	NM_003221		Approved	AP2-B	uc003pag.3	Q92481	OTTHUMG00000014836	ENST00000393655.3:c.1043G>T	6.37:g.50807971G>T	ENSP00000377265:p.Ser348Ile		Q5JYX6|Q9NQ63|Q9NU99|Q9UJI7|Q9Y214|Q9Y3K3	Missense_Mutation	SNP	pfam_TF_AP2_C,prints_TF_AP2_beta,prints_TF_AP2_C	p.S357I	ENST00000393655.3	37	c.1070	CCDS4934.2	6	.	.	.	.	.	.	.	.	.	.	G	14.68	2.606575	0.46527	.	.	ENSG00000008196	ENST00000393655;ENST00000263046	D;D	0.96885	-4.16;-4.16	5.67	5.67	0.87782	Transcription factor AP-2, C-terminal (1);	0.227898	0.52532	D	0.000078	D	0.93194	0.7832	L	0.50333	1.59	0.42790	D	0.993899	B	0.19817	0.039	B	0.30855	0.121	D	0.90869	0.4744	10	0.56958	D	0.05	-12.0128	14.6352	0.68682	0.0:0.266:0.734:0.0	.	348	Q92481	AP2B_HUMAN	I	348;357	ENSP00000377265:S348I;ENSP00000263046:S357I	ENSP00000263046:S357I	S	+	2	0	TFAP2B	50915930	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.196000	0.58407	2.692000	0.91855	0.655000	0.94253	AGT	TFAP2B	-	pfam_TF_AP2_C	ENSG00000008196		0.527	TFAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFAP2B	HGNC	protein_coding	OTTHUMT00000040886.3	-	0.00	29	0	G	NM_003221		50807971	+1	tier1	-	no_errors	ENST00000263046	ensembl	human	known	74_37	missense	9.52	38	4	SNP	1.000	T
TLL1	7092	genome.wustl.edu	37	4	166981258	166981258	+	Missense_Mutation	SNP	A	A	G			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr4:166981258A>G	ENST00000061240.2	+	15	2572	c.1925A>G	c.(1924-1926)aAg>aGg	p.K642R	TLL1_ENST00000507499.1_Missense_Mutation_p.K665R	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	642	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.K642T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		CCTCCTAATAAGAACTGTGTG	0.428																																																	1	Substitution - Missense(1)	endometrium(1)											90.0	88.0	89.0					4																	166981258		2203	4300	6503	SO:0001583	missense	0			AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.1925A>G	4.37:g.166981258A>G	ENSP00000061240:p.Lys642Arg		B2RMU2|Q96AN3|Q9NQS4	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,smart_Peptidase_Metallo,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB_dom,pfscan_EG-like_dom,prints_Peptidase_M12A	p.K642R	ENST00000061240.2	37	c.1925	CCDS3811.1	4	.	.	.	.	.	.	.	.	.	.	A	24.7	4.564174	0.86335	.	.	ENSG00000038295	ENST00000061240;ENST00000507499	T;T	0.27720	1.65;1.65	5.98	5.98	0.97165	CUB (5);	0.000000	0.85682	U	0.000000	T	0.53738	0.1815	M	0.64404	1.975	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.998	T	0.49986	-0.8880	10	0.41790	T	0.15	.	16.4578	0.84025	1.0:0.0:0.0:0.0	.	665;642	E9PD25;O43897	.;TLL1_HUMAN	R	642;665	ENSP00000061240:K642R;ENSP00000426082:K665R	ENSP00000061240:K642R	K	+	2	0	TLL1	167200708	1.000000	0.71417	1.000000	0.80357	0.643000	0.38383	9.235000	0.95353	2.288000	0.76882	0.482000	0.46254	AAG	TLL1	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB_dom	ENSG00000038295		0.428	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLL1	HGNC	protein_coding	OTTHUMT00000363821.1	-	0.00	50	0	A			166981258	+1	tier1	-	no_errors	ENST00000061240	ensembl	human	known	74_37	missense	23.64	42	13	SNP	1.000	G
TMEM115	11070	genome.wustl.edu	37	3	50396409	50396409	+	Missense_Mutation	SNP	G	G	T			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr3:50396409G>T	ENST00000266025.3	-	1	632	c.86C>A	c.(85-87)gCg>gAg	p.A29E	XXcos-LUCA11.5_ENST00000606589.1_Intron	NM_007024.4	NP_008955.1	Q12893	TM115_HUMAN	transmembrane protein 115	29					negative regulation of cell proliferation (GO:0008285)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(2)|endometrium(1)|lung(1)|prostate(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GAATAGTACCGCCGCACACAG	0.652																																																	0													27.0	25.0	26.0					3																	50396409		2194	4290	6484	SO:0001583	missense	0			BC011948	CCDS2828.1	3p21.31	2008-11-04			ENSG00000126062	ENSG00000126062			30055	protein-coding gene	gene with protein product	"""placental protein 6"""	607069				11085536	Standard	NM_007024		Approved	PL6	uc003dan.1	Q12893	OTTHUMG00000044212	ENST00000266025.3:c.86C>A	3.37:g.50396409G>T	ENSP00000266025:p.Ala29Glu		A2IDB7|O14568|Q6IAY4|Q9UIX3	Missense_Mutation	SNP	pfam_DUF1751_Mem_euk	p.A29E	ENST00000266025.3	37	c.86	CCDS2828.1	3	.	.	.	.	.	.	.	.	.	.	G	10.45	1.352451	0.24512	.	.	ENSG00000126062	ENST00000266025	T	0.13089	2.62	5.25	4.36	0.52297	.	0.376010	0.29410	N	0.012226	T	0.09730	0.0239	L	0.27053	0.805	0.09310	N	1	B	0.32160	0.358	B	0.29077	0.098	T	0.20739	-1.0266	10	0.62326	D	0.03	2.0334	9.4606	0.38783	0.1766:0.0:0.8234:0.0	.	29	Q12893	TM115_HUMAN	E	29	ENSP00000266025:A29E	ENSP00000266025:A29E	A	-	2	0	TMEM115	50371413	0.363000	0.24989	0.010000	0.14722	0.207000	0.24258	3.541000	0.53618	1.316000	0.45131	0.563000	0.77884	GCG	TMEM115	-	NULL	ENSG00000126062		0.652	TMEM115-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM115	HGNC	protein_coding	OTTHUMT00000102784.3	-	0.00	64	0	G	NM_007024		50396409	-1	tier1	-	no_errors	ENST00000266025	ensembl	human	known	74_37	missense	7.14	52	4	SNP	0.026	T
TMEM254	80195	genome.wustl.edu	37	10	81841429	81841432	+	Intron	DEL	AAAG	AAAG	-	rs370724942|rs143538725	byFrequency	TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	AAAG	AAAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr10:81841429_81841432delAAAG	ENST00000372281.3	+	2	117				TMEM254_ENST00000467529.1_Intron|TMEM254-AS1_ENST00000412298.1_RNA|TMEM254-AS1_ENST00000432070.2_RNA|TMEM254-AS1_ENST00000448729.2_RNA|TMEM254_ENST00000372274.1_Intron|TMEM254_ENST00000372277.3_Intron|TMEM254_ENST00000372275.1_Intron	NM_001270372.1|NM_025125.3	NP_001257301.1|NP_079401.2	Q8TBM7	TM254_HUMAN	transmembrane protein 254							integral component of membrane (GO:0016021)											gtcaaaaaaaaaagaaagaaagaa	0.456														121	0.0241613	0.0008	0.0216	5008	,	,		19163	0.002		0.0517	False		,,,				2504	0.0521																0																																										SO:0001627	intron_variant	0			BC022252	CCDS7363.1, CCDS58086.1, CCDS58087.1, CCDS73157.1	10q23.1	2012-11-06	2012-11-06	2012-11-06	ENSG00000133678	ENSG00000133678			25804	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 57"""	C10orf57		14702039	Standard	NM_025125		Approved	FLJ13263, bA369J21.6	uc010qlw.3	Q8TBM7	OTTHUMG00000018602	ENST00000372281.3:c.88-165AAAG>-	10.37:g.81841437_81841440delAAAG			D3DWC8|Q53HP4|Q5JTC0|Q5JTC1|Q6IA45|Q9H8S6	RNA	DEL	-	NULL	ENST00000372281.3	37	NULL	CCDS7363.1	10																																																																																			TMEM254	-	-	ENSG00000133678		0.456	TMEM254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM254	HGNC	protein_coding	OTTHUMT00000049030.1		0.00	11	0	AAAG	NM_025125		81841432	+1	tier1		no_errors	ENST00000463029	ensembl	human	known	74_37	rna	34.21	25	13	DEL	0.019:0.020:0.019:0.021	-
TOR1A	1861	genome.wustl.edu	37	9	132576441	132576441	+	Missense_Mutation	SNP	A	A	G			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr9:132576441A>G	ENST00000351698.4	-	5	857	c.809T>C	c.(808-810)cTc>cCc	p.L270P		NM_000113.2	NP_000104.1	O14656	TOR1A_HUMAN	torsin family 1, member A (torsin A)	270	Interaction with KLC1.				ATP catabolic process (GO:0006200)|cell adhesion (GO:0007155)|chaperone mediated protein folding requiring cofactor (GO:0051085)|chaperone-mediated protein folding (GO:0061077)|chaperone-mediated protein transport (GO:0072321)|ER-associated misfolded protein catabolic process (GO:0071712)|intermediate filament cytoskeleton organization (GO:0045104)|neuron projection development (GO:0031175)|nuclear envelope organization (GO:0006998)|nuclear membrane organization (GO:0071763)|organelle organization (GO:0006996)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|protein deneddylation (GO:0000338)|protein homooligomerization (GO:0051260)|protein localization to nucleus (GO:0034504)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of protein localization to cell surface (GO:2000008)|response to oxidative stress (GO:0006979)|synaptic vesicle transport (GO:0048489)|wound healing, spreading of cells (GO:0044319)	cell junction (GO:0030054)|cytoplasmic vesicle membrane (GO:0030659)|cytoskeleton (GO:0005856)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cytoskeletal protein binding (GO:0008092)|kinesin binding (GO:0019894)|unfolded protein binding (GO:0051082)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20		Ovarian(14;0.00556)				TTCCAGGGGGAGGAAGGGAAC	0.468																																																	0													135.0	129.0	131.0					9																	132576441		2203	4300	6503	SO:0001583	missense	0			AF007871	CCDS6930.1	9q32-q34	2008-07-21	2004-11-24	2004-11-26	ENSG00000136827	ENSG00000136827			3098	protein-coding gene	gene with protein product		605204	"""dystonia 1, torsion (autosomal dominant; torsin A)"""	DYT1		10644435	Standard	NM_000113		Approved	DQ2	uc004byl.3	O14656	OTTHUMG00000020794	ENST00000351698.4:c.809T>C	9.37:g.132576441A>G	ENSP00000345719:p.Leu270Pro		B2RB58|Q53Y64|Q96CA0	Missense_Mutation	SNP	pfam_Torsin,superfamily_P-loop_NTPase,pirsf_Torsin_subgr	p.L270P	ENST00000351698.4	37	c.809	CCDS6930.1	9	.	.	.	.	.	.	.	.	.	.	A	24.3	4.512437	0.85389	.	.	ENSG00000136827	ENST00000427355;ENST00000351698	T	0.68181	-0.31	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.86322	0.5905	M	0.94142	3.5	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90149	0.4219	10	0.87932	D	0	-11.4284	14.3493	0.66688	1.0:0.0:0.0:0.0	.	270	O14656	TOR1A_HUMAN	P	239;270	ENSP00000345719:L270P	ENSP00000345719:L270P	L	-	2	0	TOR1A	131616262	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.962000	0.93254	1.974000	0.57490	0.459000	0.35465	CTC	TOR1A	-	superfamily_P-loop_NTPase,pirsf_Torsin_subgr	ENSG00000136827		0.468	TOR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOR1A	HGNC	protein_coding	OTTHUMT00000054611.1		0.00	47	0	A	NM_000113		132576441	-1			no_errors	ENST00000351698	ensembl	human	known	74_37	missense	6.25	60	4	SNP	1.000	G
TPM3	7170	genome.wustl.edu	37	1	154144891	154144892	+	Intron	INS	-	-	T	rs200258420		TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr1:154144891_154144892insT	ENST00000368530.2	-	5	759				TPM3_ENST00000302206.5_Intron|TPM3_ENST00000341485.5_Intron|TPM3_ENST00000330188.9_Intron|TPM3_ENST00000323144.7_Intron|TPM3_ENST00000368533.3_Intron|TPM3_ENST00000271850.7_Intron|TPM3_ENST00000328159.4_Intron|TPM3_ENST00000341372.3_Intron|TPM3_ENST00000368531.2_Intron|TPM3_ENST00000469717.1_5'UTR	NM_152263.2	NP_689476.2	P06753	TPM3_HUMAN	tropomyosin 3						cellular component movement (GO:0006928)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle thin filament tropomyosin (GO:0005862)|stress fiber (GO:0001725)			TPM3/NTRK1_ENST00000392302(70)|TPM3/ALK(33)	breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)					CAGACACCAGATTTTTTTTTTA	0.48			T	"""NTRK1, ALK, ROS1"""	"""papillary thyroid, ALCL, NSCLC"""																																			Dom	yes		1	1q22-q23	7170	tropomyosin 3		"""E, L"""	0																																										SO:0001627	intron_variant	0			BC008425	CCDS1060.1, CCDS41400.1, CCDS41401.1, CCDS41402.1, CCDS41403.1, CCDS60274.1, CCDS60275.1, CCDS72922.1	1q21.2	2014-09-17			ENSG00000143549	ENSG00000143549		"""Tropomyosins"""	12012	protein-coding gene	gene with protein product		191030		NEM1		1829807	Standard	NM_153649		Approved	TRK	uc001fec.2	P06753	OTTHUMG00000035853	ENST00000368530.2:c.566+491->A	1.37:g.154144901_154144901dupT			D3DV71|P12324|Q2QD06|Q5VU58|Q5VU63|Q5VU66|Q5VU71|Q5VU72|Q8TCG3|Q969Q2|Q9NQH8	RNA	INS	-	NULL	ENST00000368530.2	37	NULL	CCDS41403.1	1																																																																																			TPM3	-	-	ENSG00000143549		0.480	TPM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPM3	HGNC	protein_coding	OTTHUMT00000087271.2		0.00	20	0	-	NM_152263		154144892	-1	tier1		no_errors	ENST00000469717	ensembl	human	known	74_37	rna	12.12	29	4	INS	0.013:0.015	T
TPTE	7179	genome.wustl.edu	37	21	10907027	10907027	+	Missense_Mutation	SNP	T	T	C			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr21:10907027T>C	ENST00000361285.4	-	24	1863	c.1534A>G	c.(1534-1536)Aaa>Gaa	p.K512E	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.K474E|TPTE_ENST00000298232.7_Missense_Mutation_p.K494E	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	512	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AATTCATTTTTTGGTAGATAA	0.358																																																	0													82.0	73.0	76.0					21																	10907027		2203	4300	6503	SO:0001583	missense	0			AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.1534A>G	21.37:g.10907027T>C	ENSP00000355208:p.Lys512Glu		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Ion_trans_dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.K512E	ENST00000361285.4	37	c.1534	CCDS13560.2	21	.	.	.	.	.	.	.	.	.	.	.	9.312	1.055817	0.19907	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.88201	-2.35;-2.35;-2.35	2.39	-0.435	0.12279	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.055979	0.64402	U	0.000001	D	0.86104	0.5853	L	0.46157	1.445	0.20489	N	0.999892	B;B;P	0.38250	0.214;0.214;0.624	B;B;P	0.46389	0.209;0.149;0.515	T	0.79014	-0.1976	10	0.72032	D	0.01	-14.5757	7.4917	0.27466	0.0:0.0:0.4233:0.5767	.	474;494;512	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	E	494;512;474	ENSP00000298232:K494E;ENSP00000355208:K512E;ENSP00000344441:K474E	ENSP00000298232:K494E	K	-	1	0	TPTE	9928898	1.000000	0.71417	0.335000	0.25508	0.086000	0.17979	2.937000	0.48979	-0.082000	0.12640	0.155000	0.16302	AAA	TPTE	-	pfam_Tensin_phosphatase_C2-dom,superfamily_C2_dom,pfscan_Tensin_phosphatase_C2-dom	ENSG00000166157		0.358	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPTE	HGNC	protein_coding	OTTHUMT00000157413.1	-	0.00	230	0	T			10907027	-1	tier1	-	no_errors	ENST00000361285	ensembl	human	known	74_37	missense	10.76	224	27	SNP	0.955	C
TRIM77	390231	genome.wustl.edu	37	11	89443868	89443868	+	Silent	SNP	A	A	G			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr11:89443868A>G	ENST00000398290.3	+	1	402	c.402A>G	c.(400-402)gaA>gaG	p.E134E		NM_001146162.1	NP_001139634.1	I1YAP6	TRI77_HUMAN	tripartite motif containing 77	134						intracellular (GO:0005622)	zinc ion binding (GO:0008270)										AGGCTGATGAATACTATAGGG	0.388																																																	0													45.0	38.0	41.0					11																	89443868		692	1591	2283	SO:0001819	synonymous_variant	0				CCDS60929.1	11q14.3	2014-02-17	2013-01-14	2013-01-14	ENSG00000214414	ENSG00000214414		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	34228	protein-coding gene	gene with protein product			"""tripartite motif-containing 77"", ""tripartite motif containing 77, pseudogene"""	TRIM77P			Standard	NM_001146162		Approved		uc010rtw.2	I1YAP6	OTTHUMG00000167624	ENST00000398290.3:c.402A>G	11.37:g.89443868A>G				Silent	SNP	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.E134	ENST00000398290.3	37	c.402		11																																																																																			TRIM77	-	NULL	ENSG00000214414		0.388	TRIM77-201	KNOWN	basic|appris_principal	protein_coding	TRIM77	HGNC	protein_coding		-	0.00	64	0	A	NM_001146162		89443868	+1	tier1	-	no_errors	ENST00000398290	ensembl	human	known	74_37	silent	6.82	123	9	SNP	0.027	G
TRPA1	8989	genome.wustl.edu	37	8	72964956	72964956	+	Silent	SNP	G	G	A			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr8:72964956G>A	ENST00000262209.4	-	14	1896	c.1689C>T	c.(1687-1689)gcC>gcT	p.A563A	RP11-383H13.1_ENST00000457356.4_3'UTR|RP11-383H13.1_ENST00000537896.1_3'UTR	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	563					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	GAAGCGCAACGGCTTTGGCGT	0.468																																																	0													153.0	129.0	137.0					8																	72964956		2203	4300	6503	SO:0001819	synonymous_variant	0			Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.1689C>T	8.37:g.72964956G>A			A6NIN6	Silent	SNP	pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.A563	ENST00000262209.4	37	c.1689	CCDS34908.1	8																																																																																			TRPA1	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000104321		0.468	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPA1	HGNC	protein_coding	OTTHUMT00000379079.2	-	0.00	47	0	G	NM_007332		72964956	-1	tier1	-	no_errors	ENST00000262209	ensembl	human	known	74_37	silent	31.67	41	19	SNP	0.008	A
TSC2	7249	genome.wustl.edu	37	16	2121821	2121821	+	Silent	SNP	C	C	T	rs137854310|rs137854103		TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr16:2121821C>T	ENST00000219476.3	+	19	2613	c.1983C>T	c.(1981-1983)ggC>ggT	p.G661G	TSC2_ENST00000568454.1_Silent_p.G672G|TSC2_ENST00000353929.4_Silent_p.G661G|TSC2_ENST00000350773.4_Silent_p.G661G|TSC2_ENST00000439673.2_Silent_p.G624G|TSC2_ENST00000401874.2_Silent_p.G661G|TSC2_ENST00000382538.6_Silent_p.G612G	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	661					acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				AGACCAGCGGCCCCCTTTCTC	0.677			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																														yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		"""E, O"""	0													10.0	12.0	12.0					16																	2121821		2188	4292	6480	SO:0001819	synonymous_variant	0	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 160"""	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.1983C>T	16.37:g.2121821C>T			A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Silent	SNP	pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom,prints_Tuberin	p.G661	ENST00000219476.3	37	c.1983	CCDS10458.1	16																																																																																			TSC2	-	pfam_Tuberin-type_domain	ENSG00000103197		0.677	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSC2	HGNC	protein_coding	OTTHUMT00000250657.2		0.00	10	0	C	NM_000548		2121821	+1			no_errors	ENST00000219476	ensembl	human	known	74_37	silent	11.76	15	2	SNP	0.001	T
TTC21A	199223	genome.wustl.edu	37	3	39170763	39170763	+	Missense_Mutation	SNP	G	G	T			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr3:39170763G>T	ENST00000431162.2	+	15	2252	c.2118G>T	c.(2116-2118)caG>caT	p.Q706H	TTC21A_ENST00000301819.6_Missense_Mutation_p.Q707H|TTC21A_ENST00000440121.1_Missense_Mutation_p.Q658H			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	706										NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TCTACCTGCAGACCCTCAGAG	0.527																																																	0													120.0	122.0	122.0					3																	39170763		2103	4245	6348	SO:0001583	missense	0			AJ487015	CCDS43068.1, CCDS46800.1, CCDS43068.2	3p22.2	2014-09-04			ENSG00000168026	ENSG00000168026		"""Tetratricopeptide (TTC) repeat domain containing"""	30761	protein-coding gene	gene with protein product		611430					Standard	NM_145755		Approved	STI2	uc003cjc.2	Q8NDW8	OTTHUMG00000155973	ENST00000431162.2:c.2118G>T	3.37:g.39170763G>T	ENSP00000398211:p.Gln706His		A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	Missense_Mutation	SNP	pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.Q707H	ENST00000431162.2	37	c.2121	CCDS46800.1	3	.	.	.	.	.	.	.	.	.	.	G	9.099	1.003752	0.19199	.	.	ENSG00000168026	ENST00000301819;ENST00000424305;ENST00000431162;ENST00000440121	T;T;T	0.61274	0.12;0.12;0.24	5.85	-2.5	0.06384	Tetratricopeptide-like helical (1);	0.650910	0.14581	N	0.310891	T	0.32496	0.0831	N	0.16368	0.405	0.22366	N	0.99916	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.06405	0.002;0.001;0.0	T	0.13495	-1.0507	10	0.27785	T	0.31	-2.9311	6.3279	0.21255	0.1848:0.5676:0.1567:0.0909	.	658;707;706	Q8NDW8-6;Q8NDW8-7;Q8NDW8	.;.;TT21A_HUMAN	H	707;689;706;658	ENSP00000301819:Q707H;ENSP00000398211:Q706H;ENSP00000410882:Q658H	ENSP00000301819:Q707H	Q	+	3	2	TTC21A	39145767	0.012000	0.17670	0.978000	0.43139	0.941000	0.58515	-0.448000	0.06820	-0.158000	0.11040	-0.126000	0.14955	CAG	TTC21A	-	NULL	ENSG00000168026		0.527	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TTC21A	HGNC	protein_coding	OTTHUMT00000377829.1	-	0.00	46	0	G	NM_145755		39170763	+1	tier1	-	no_errors	ENST00000301819	ensembl	human	known	74_37	missense	9.30	39	4	SNP	0.455	T
TTK	7272	genome.wustl.edu	37	6	80745072	80745072	+	Missense_Mutation	SNP	C	C	A			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr6:80745072C>A	ENST00000369798.2	+	16	1973	c.1862C>A	c.(1861-1863)cCa>cAa	p.P621Q	TTK_ENST00000509894.1_Missense_Mutation_p.P620Q|TTK_ENST00000230510.3_Missense_Mutation_p.P620Q	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	621	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				chromosome separation (GO:0051304)|mitotic spindle assembly checkpoint (GO:0007094)|mitotic spindle organization (GO:0007052)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|spindle organization (GO:0007051)	membrane (GO:0016020)|spindle (GO:0005819)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		TCCATTGATCCATGGGAACGC	0.328																																																	0													104.0	101.0	102.0					6																	80745072		2203	4299	6502	SO:0001583	missense	0				CCDS4993.1, CCDS55040.1	6q14.1	2014-04-07			ENSG00000112742	ENSG00000112742			12401	protein-coding gene	gene with protein product	"""cancer/testis antigen 96"", ""monopolar spindle 1 kinase"""	604092				1639825	Standard	NM_003318		Approved	MPS1, MPS1L1, CT96, MPH1	uc003pjc.3	P33981	OTTHUMG00000015088	ENST00000369798.2:c.1862C>A	6.37:g.80745072C>A	ENSP00000358813:p.Pro621Gln		A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.P621Q	ENST00000369798.2	37	c.1862	CCDS4993.1	6	.	.	.	.	.	.	.	.	.	.	C	20.3	3.968899	0.74131	.	.	ENSG00000112742	ENST00000509894;ENST00000230510;ENST00000369798	T;T;T	0.73897	-0.79;-0.79;-0.79	5.5	5.5	0.81552	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.278178	0.41500	D	0.000868	T	0.75369	0.3840	L	0.44542	1.39	0.80722	D	1	P;D	0.57257	0.91;0.979	P;P	0.59487	0.791;0.858	T	0.73892	-0.3839	10	0.39692	T	0.17	.	18.3737	0.90428	0.0:1.0:0.0:0.0	.	621;620	P33981;A8K8U5	TTK_HUMAN;.	Q	620;620;621	ENSP00000422936:P620Q;ENSP00000230510:P620Q;ENSP00000358813:P621Q	ENSP00000230510:P620Q	P	+	2	0	TTK	80801791	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	5.700000	0.68318	2.582000	0.87167	0.460000	0.39030	CCA	TTK	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000112742		0.328	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TTK	HGNC	protein_coding	OTTHUMT00000041316.2	-	0.00	79	0	C			80745072	+1	tier1	-	no_errors	ENST00000369798	ensembl	human	known	74_37	missense	11.11	88	11	SNP	1.000	A
TTN	7273	genome.wustl.edu	37	2	179469601	179469601	+	Missense_Mutation	SNP	A	A	C			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr2:179469601A>C	ENST00000591111.1	-	231	49516	c.49292T>G	c.(49291-49293)cTt>cGt	p.L16431R	TTN_ENST00000359218.5_Missense_Mutation_p.L9132R|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L15504R|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L9007R|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.L18072R|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L9199R|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	16431	Fibronectin type-III 19. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTAACAGCAAGATTTCTTGG	0.413																																																	0													118.0	109.0	112.0					2																	179469601		1897	4136	6033	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.49292T>G	2.37:g.179469601A>C	ENSP00000465570:p.Leu16431Arg		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.L15504R	ENST00000591111.1	37	c.46511		2	.	.	.	.	.	.	.	.	.	.	A	13.69	2.311085	0.40895	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18	5.74	5.74	0.90152	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.80798	0.4692	M	0.84082	2.675	0.48452	D	0.999659	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.74023	0.982;0.982;0.982;0.982	D	0.83766	0.0217	9	0.87932	D	0	.	16.3426	0.83092	1.0:0.0:0.0:0.0	.	9007;9132;9199;16431	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	R	15504;9007;9199;9132;9007	ENSP00000343764:L15504R;ENSP00000434586:L9007R;ENSP00000340554:L9199R;ENSP00000352154:L9132R	ENSP00000340554:L9199R	L	-	2	0	TTN	179177846	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.390000	0.79816	2.317000	0.78254	0.460000	0.39030	CTT	TTN	-	pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.413	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0.00	49	0	A	NM_133378		179469601	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	13.33	39	6	SNP	1.000	C
TTN	7273	genome.wustl.edu	37	2	179594880	179594880	+	Missense_Mutation	SNP	T	T	A	rs374012753		TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr2:179594880T>A	ENST00000591111.1	-	60	17520	c.17296A>T	c.(17296-17298)Att>Ttt	p.I5766F	TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.I4839F|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.I6083F|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000582847.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12567	Ig-like 38.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTTGGCAAATGTAGGTTCCA	0.473																																																	0													56.0	54.0	54.0					2																	179594880		1956	4148	6104	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.17296A>T	2.37:g.179594880T>A	ENSP00000465570:p.Ile5766Phe		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.I4839F	ENST00000591111.1	37	c.14515		2	.	.	.	.	.	.	.	.	.	.	T	12.54	1.968833	0.34754	.	.	ENSG00000155657	ENST00000342992	T	0.41758	0.99	5.59	5.59	0.84812	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.38532	0.1044	N	0.21142	0.635	0.80722	D	1	P	0.42584	0.784	P	0.45167	0.472	T	0.36383	-0.9750	9	0.87932	D	0	.	16.07	0.80919	0.0:0.0:0.0:1.0	.	5766	Q8WZ42	TITIN_HUMAN	F	4839	ENSP00000343764:I4839F	ENSP00000343764:I4839F	I	-	1	0	TTN	179303125	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	2.622000	0.46427	2.254000	0.74563	0.533000	0.62120	ATT	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	ENSG00000155657		0.473	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0.00	34	0	T	NM_133378		179594880	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	12.77	41	6	SNP	1.000	A
UBA7	7318	genome.wustl.edu	37	3	49842835	49842835	+	Missense_Mutation	SNP	G	G	T			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr3:49842835G>T	ENST00000333486.3	-	24	3103	c.2945C>A	c.(2944-2946)gCa>gAa	p.A982E	MIR5193_ENST00000584510.1_RNA	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	982					cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ISG15 activating enzyme activity (GO:0019782)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		AGGAGCAGGTGCCTGGCCTGT	0.607																																																	0													109.0	93.0	98.0					3																	49842835		2203	4300	6503	SO:0001583	missense	0			BC006378	CCDS2805.1	3p21	2007-11-30	2007-11-30	2007-11-30	ENSG00000182179	ENSG00000182179		"""Ubiquitin-like modifier activating enzymes"""	12471	protein-coding gene	gene with protein product	"""UBA1, ubiquitin-activating enzyme E1 homolog B (yeast)"", ""UBA7, ubiquitin-activating enzyme E1"""	191325	"""ubiquitin-activating enzyme E1-like"""	UBE1L		8327486	Standard	NM_003335		Approved	D8, UBE2, UBA1B	uc003cxr.3	P41226	OTTHUMG00000158267	ENST00000333486.3:c.2945C>A	3.37:g.49842835G>T	ENSP00000333266:p.Ala982Glu		Q9BRB2	Missense_Mutation	SNP	pfam_ThiF_NAD_FAD-bd,pfam_UBact_repeat,pfam_Ub-activating_enz_e1_C,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1	p.A982E	ENST00000333486.3	37	c.2945	CCDS2805.1	3	.	.	.	.	.	.	.	.	.	.	A	0.288	-0.981975	0.02197	.	.	ENSG00000182179	ENST00000333486	T	0.39787	1.06	5.24	-10.4	0.00318	Ubiquitin-activating enzyme e1, C-terminal (1);	1.489920	0.04364	N	0.357985	T	0.19167	0.0460	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.07309	-1.0779	10	0.20519	T	0.43	1.5108	7.2639	0.26219	0.1366:0.0:0.3235:0.5399	.	982	P41226	UBA7_HUMAN	E	982	ENSP00000333266:A982E	ENSP00000333266:A982E	A	-	2	0	UBA7	49817839	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.063000	0.03465	-1.717000	0.01385	-1.534000	0.00916	GCA	UBA7	-	pfam_Ub-activating_enz_e1_C,tigrfam_UBQ-activ_enz_E1	ENSG00000182179		0.607	UBA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBA7	HGNC	protein_coding	OTTHUMT00000350503.1	-	0.00	29	0	G	NM_003335		49842835	-1	tier1	-	no_errors	ENST00000333486	ensembl	human	known	74_37	missense	12.50	28	4	SNP	0.000	T
UBE4B	10277	genome.wustl.edu	37	1	10211432	10211432	+	Missense_Mutation	SNP	G	G	T			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr1:10211432G>T	ENST00000253251.8	+	20	3191	c.2352G>T	c.(2350-2352)atG>atT	p.M784I	UBE4B_ENST00000377157.3_Missense_Mutation_p.M668I|UBE4B_ENST00000343090.6_Missense_Mutation_p.M913I					ubiquitination factor E4B											NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		ATATTGTGATGTTCCTTGTTG	0.468																																																	0													158.0	150.0	152.0					1																	10211432		2203	4300	6503	SO:0001583	missense	0			AF091093	CCDS110.1, CCDS41245.1	1p36.1	2013-01-28	2011-05-19		ENSG00000130939	ENSG00000130939		"""U-box domain containing"""	12500	protein-coding gene	gene with protein product		613565	"""ubiquitination factor E4B (homologous to yeast UFD2)"", ""ubiquitination factor E4B (UFD2 homolog, yeast)"""			9734811, 10089879	Standard	NM_006048		Approved	UBOX3, E4, UFD2, KIAA0684	uc001aqs.4	O95155	OTTHUMG00000001797	ENST00000253251.8:c.2352G>T	1.37:g.10211432G>T	ENSP00000253251:p.Met784Ile			Missense_Mutation	SNP	pfam_Ub_conjug_fac_E4_core,pfam_Ubox_domain,smart_Ubox_domain	p.M913I	ENST00000253251.8	37	c.2739	CCDS110.1	1	.	.	.	.	.	.	.	.	.	.	G	15.15	2.748270	0.49257	.	.	ENSG00000130939	ENST00000253251;ENST00000377157;ENST00000343090	T;T;T	0.41758	0.99;0.99;0.99	5.33	5.33	0.75918	Ubiquitin conjugation factor E4, core (1);	0.089929	0.85682	D	0.000000	T	0.27594	0.0678	N	0.16266	0.395	0.38673	D	0.952355	B;B;B	0.28178	0.002;0.202;0.002	B;B;B	0.28465	0.016;0.09;0.009	T	0.17198	-1.0377	10	0.48119	T	0.1	-15.9153	10.5484	0.45072	0.0:0.1435:0.7079:0.1486	.	784;913;784	A8K8S9;O95155;O95155-2	.;UBE4B_HUMAN;.	I	784;668;913	ENSP00000253251:M784I;ENSP00000366362:M668I;ENSP00000343001:M913I	ENSP00000253251:M784I	M	+	3	0	UBE4B	10134019	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.430000	0.52807	2.497000	0.84241	0.460000	0.39030	ATG	UBE4B	-	pfam_Ub_conjug_fac_E4_core	ENSG00000130939		0.468	UBE4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE4B	HGNC	protein_coding	OTTHUMT00000005017.1	-	0.00	26	0	G	NM_006048		10211432	+1	tier1	-	no_errors	ENST00000343090	ensembl	human	known	74_37	missense	42.31	15	11	SNP	1.000	T
UBXN1	51035	genome.wustl.edu	37	11	62444043	62444043	+	3'UTR	SNP	G	G	A	rs368327725		TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr11:62444043G>A	ENST00000301935.5	-	0	1079				UBXN1_ENST00000524762.1_5'Flank|UBXN1_ENST00000294119.2_3'UTR|UBXN1_ENST00000533000.1_Silent_p.V98V|UBXN1_ENST00000529640.1_3'UTR			Q04323	UBXN1_HUMAN	UBX domain protein 1						negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein ubiquitination (GO:0031397)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)	Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	ATPase binding (GO:0051117)|K6-linked polyubiquitin binding (GO:0071796)|polyubiquitin binding (GO:0031593)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			endometrium(5)|lung(12)	17						GTCACAGAGGGACAATGGGAC	0.488																																																	0																																										SO:0001624	3_prime_UTR_variant	0				CCDS8029.1, CCDS66105.1, CCDS73307.1	11q23	2014-02-12	2008-07-25		ENSG00000162191	ENSG00000162191		"""UBX domain containing"""	18402	protein-coding gene	gene with protein product	"""SAPK substrate protein 1"""					12838346, 20351172	Standard	NM_001286078		Approved	LOC51035, 2B28, UBXD10, SAKS1	uc001nuj.3	Q04323	OTTHUMG00000167580	ENST00000301935.5:c.*19C>T	11.37:g.62444043G>A			Q9BV93|Q9BVV5	Silent	SNP	NULL	p.V98	ENST00000301935.5	37	c.294		11																																																																																			UBXN1	-	NULL	ENSG00000162191		0.488	UBXN1-002	KNOWN	basic|appris_candidate_longest	protein_coding	UBXN1	HGNC	protein_coding	OTTHUMT00000395153.1	-	0.00	80	0	G	NM_015853		62444043	-1	tier1	-	no_errors	ENST00000533000	ensembl	human	putative	74_37	silent	27.59	63	24	SNP	0.000	A
UCP2	7351	genome.wustl.edu	37	11	73686625	73686625	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr11:73686625G>T	ENST00000310473.3	-	7	1568	c.726C>A	c.(724-726)taC>taA	p.Y242*	UCP2_ENST00000542615.1_5'Flank|UCP2_ENST00000536983.1_Intron	NM_003355.2	NP_003346.2	P55851	UCP2_HUMAN	uncoupling protein 2 (mitochondrial, proton carrier)	242					aging (GO:0007568)|cellular metabolic process (GO:0044237)|cellular response to amino acid starvation (GO:0034198)|cellular response to glucose stimulus (GO:0071333)|cellular response to insulin stimulus (GO:0032869)|female pregnancy (GO:0007565)|liver regeneration (GO:0097421)|mitochondrial transport (GO:0006839)|negative regulation of apoptotic process (GO:0043066)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|positive regulation of cell death (GO:0010942)|proton transport (GO:0015992)|regulation of mitochondrial membrane potential (GO:0051881)|respiratory electron transport chain (GO:0022904)|response to fatty acid (GO:0070542)|response to hypoxia (GO:0001666)|response to superoxide (GO:0000303)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				large_intestine(1)|lung(3)|prostate(1)	5	Breast(11;0.000112)					CAGAGTTCATGTATCTCGTCT	0.592																																					Colon(191;388 2040 43557 45622 48925)												0													127.0	112.0	117.0					11																	73686625		2200	4293	6493	SO:0001587	stop_gained	0			U76367	CCDS8228.1	11q13	2014-02-12						"""Solute carriers"""	12518	protein-coding gene	gene with protein product		601693	"""body mass index QTL 4"", ""body mass index quantitative trait 4"""	BMIQ4		9196039, 11381268	Standard	NM_003355		Approved	SLC25A8	uc001oup.1	P55851		ENST00000310473.3:c.726C>A	11.37:g.73686625G>T	ENSP00000312029:p.Tyr242*		Q4PJH8|Q53HM3	Nonsense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_uncoupling	p.Y242*	ENST00000310473.3	37	c.726	CCDS8228.1	11	.	.	.	.	.	.	.	.	.	.	G	16.62	3.173209	0.57584	.	.	ENSG00000175567	ENST00000310473;ENST00000544615;ENST00000545212	.	.	.	5.95	-1.38	0.09027	.	0.055744	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-20.1112	11.7641	0.51920	0.3632:0.0:0.6368:0.0	.	.	.	.	X	242;215;113	.	ENSP00000312029:Y242X	Y	-	3	2	UCP2	73364273	1.000000	0.71417	0.969000	0.41365	0.993000	0.82548	0.551000	0.23361	-0.569000	0.06030	-0.136000	0.14681	TAC	UCP2	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	ENSG00000175567		0.592	UCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UCP2	HGNC	protein_coding	OTTHUMT00000398108.1	-	0.00	46	0	G	NM_003355		73686625	-1	tier1	-	no_errors	ENST00000310473	ensembl	human	known	74_37	nonsense	26.92	38	14	SNP	1.000	T
UNC45B	146862	genome.wustl.edu	37	17	33513524	33513524	+	Silent	SNP	C	C	T			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr17:33513524C>T	ENST00000268876.5	+	20	2839	c.2742C>T	c.(2740-2742)gcC>gcT	p.A914A	UNC45B_ENST00000591048.1_Silent_p.A833A|UNC45B_ENST00000433649.1_Silent_p.A912A|UNC45B_ENST00000378449.1_Silent_p.A833A|RP11-799D4.2_ENST00000590144.1_RNA|UNC45B_ENST00000394570.2_Silent_p.A912A	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	914					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				TTCAGACAGCCCGAGAATGTC	0.527																																																	0													147.0	121.0	130.0					17																	33513524		2203	4300	6503	SO:0001819	synonymous_variant	0			AW755253	CCDS11292.1, CCDS45648.1	17q12	2008-02-05	2005-11-17	2005-11-17	ENSG00000141161	ENSG00000141161			14304	protein-coding gene	gene with protein product		611220	"""cardiomyopathy associated 4"""	CMYA4		12356907	Standard	NM_001267052		Approved	UNC45	uc002hja.3	Q8IWX7	OTTHUMG00000132931	ENST00000268876.5:c.2742C>T	17.37:g.33513524C>T			Q495Q8|Q495Q9	Silent	SNP	pfam_UNC-45/Ring3,superfamily_ARM-type_fold,smart_TPR_repeat,smart_Armadillo,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.A914	ENST00000268876.5	37	c.2742	CCDS11292.1	17																																																																																			UNC45B	-	NULL	ENSG00000141161		0.527	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UNC45B	HGNC	protein_coding	OTTHUMT00000256458.2		0.00	86	0	C	NM_173167		33513524	+1			no_errors	ENST00000268876	ensembl	human	known	74_37	silent	5.33	71	4	SNP	0.982	T
USH2A	7399	genome.wustl.edu	37	1	216040378	216040378	+	Missense_Mutation	SNP	G	G	A			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr1:216040378G>A	ENST00000307340.3	-	44	9202	c.8816C>T	c.(8815-8817)aCa>aTa	p.T2939I	USH2A_ENST00000366943.2_Missense_Mutation_p.T2939I	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2939	Fibronectin type-III 16. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTCGATGGCTGTGTGGTTAAG	0.438										HNSCC(13;0.011)																																							0													166.0	135.0	146.0					1																	216040378		2203	4300	6503	SO:0001583	missense	0			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.8816C>T	1.37:g.216040378G>A	ENSP00000305941:p.Thr2939Ile		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.T2939I	ENST00000307340.3	37	c.8816	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	G	34	5.386085	0.95967	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.61742	0.08;0.08	5.72	4.81	0.61882	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.44688	D	0.000424	T	0.76263	0.3963	M	0.81239	2.535	0.43471	D	0.995689	D	0.89917	1.0	D	0.79784	0.993	T	0.79165	-0.1916	10	0.54805	T	0.06	.	14.4551	0.67411	0.0707:0.0:0.9293:0.0	.	2939	O75445	USH2A_HUMAN	I	2939	ENSP00000305941:T2939I;ENSP00000355910:T2939I	ENSP00000305941:T2939I	T	-	2	0	USH2A	214107001	1.000000	0.71417	0.703000	0.30354	0.847000	0.48162	4.340000	0.59328	1.422000	0.47177	0.557000	0.71058	ACA	USH2A	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000042781		0.438	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	-	0.00	35	0	G	NM_007123		216040378	-1	tier1	-	no_errors	ENST00000366943	ensembl	human	known	74_37	missense	15.79	63	12	SNP	0.992	A
USP47	55031	genome.wustl.edu	37	11	11978306	11978306	+	3'UTR	SNP	G	G	T			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr11:11978306G>T	ENST00000399455.2	+	0	4832				USP47_ENST00000305481.6_3'UTR|USP47_ENST00000339865.5_3'UTR	NM_001282659.1	NP_001269588.1	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47						base-excision repair (GO:0006284)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell growth (GO:0030307)|response to drug (GO:0042493)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	ubiquitin-specific protease activity (GO:0004843)|WD40-repeat domain binding (GO:0071987)			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		TTCATTTTTTGCAGAGTATTA	0.393																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AK027362	CCDS41619.1, CCDS60725.1	11p15.2	2008-02-05	2005-08-08		ENSG00000170242	ENSG00000170242		"""Ubiquitin-specific peptidases"""	20076	protein-coding gene	gene with protein product		614460	"""Trf (TATA binding protein-related factor)-proximal homolog (Drosophila)"", ""ubiquitin specific protease 47"""			12838346	Standard	XM_005252997		Approved		uc001mjr.3	Q96K76	OTTHUMG00000165685	ENST00000399455.2:c.*584G>T	11.37:g.11978306G>T			B3KXF5|E9PM46|Q658U0|Q86Y73|Q8TEP6|Q9BWI0|Q9NWN1	RNA	SNP	-	NULL	ENST00000399455.2	37	NULL		11																																																																																			USP47	-	-	ENSG00000170242		0.393	USP47-003	KNOWN	basic|appris_candidate_longest	protein_coding	USP47	HGNC	protein_coding	OTTHUMT00000385853.2	-	0.00	26	0	G	NM_017944		11978306	+1	tier1	-	no_errors	ENST00000305481	ensembl	human	known	74_37	rna	8.70	42	4	SNP	0.950	T
USP9X	8239	genome.wustl.edu	37	X	41057806	41057806	+	Missense_Mutation	SNP	C	C	T			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chrX:41057806C>T	ENST00000324545.8	+	30	5039	c.4406C>T	c.(4405-4407)cCt>cTt	p.P1469L	USP9X_ENST00000378308.2_Missense_Mutation_p.P1469L	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1469					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TTCATATTTCCTGCATCCAAT	0.328																																					Ovarian(172;1807 2695 35459 49286)												0													99.0	91.0	93.0					X																	41057806		2000	4180	6180	SO:0001583	missense	0			X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.4406C>T	X.37:g.41057806C>T	ENSP00000316357:p.Pro1469Leu		O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67	p.P1469L	ENST00000324545.8	37	c.4406	CCDS43930.1	X	.	.	.	.	.	.	.	.	.	.	C	27.4	4.830155	0.91036	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.03553	3.9;3.89	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.18045	0.0433	M	0.76002	2.32	0.80722	D	1	D;D	0.76494	0.999;0.996	D;P	0.69307	0.963;0.883	T	0.00408	-1.1758	10	0.56958	D	0.05	.	17.7832	0.88530	0.0:1.0:0.0:0.0	.	1469;1469	Q93008-1;Q93008	.;USP9X_HUMAN	L	1469	ENSP00000367558:P1469L;ENSP00000316357:P1469L	ENSP00000316357:P1469L	P	+	2	0	USP9X	40942750	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.484000	0.81180	2.219000	0.72066	0.544000	0.68410	CCT	USP9X	-	NULL	ENSG00000124486		0.328	USP9X-003	KNOWN	basic|CCDS	protein_coding	USP9X	HGNC	protein_coding	OTTHUMT00000056250.4	-	0.00	56	0	C	NM_004652		41057806	+1	tier1	-	no_errors	ENST00000324545	ensembl	human	known	74_37	missense	44.26	34	27	SNP	1.000	T
UTP14A	10813	genome.wustl.edu	37	X	129047355	129047356	+	Intron	INS	-	-	A	rs538026007		TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chrX:129047355_129047356insA	ENST00000394422.3	+	6	565				UTP14A_ENST00000371051.5_Intron|RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000425117.2_Intron|UTP14A_ENST00000371042.3_Frame_Shift_Ins_p.RK6fs	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)						rRNA processing (GO:0006364)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						GGAGACTTTAGAAAAAAAAAAT	0.366																																																	0																																										SO:0001627	intron_variant	0			AF039694	CCDS14615.1, CCDS55489.1	Xq26.1	2009-01-15	2004-06-01	2004-06-01	ENSG00000156697	ENSG00000156697			10665	protein-coding gene	gene with protein product		300508	"""serologically defined colon cancer antigen 16"""	SDCCAG16		9610721, 16354793	Standard	NM_006649		Approved	NY-CO-16	uc004euz.3	Q9BVJ6	OTTHUMG00000022378	ENST00000394422.3:c.537+1458->A	X.37:g.129047365_129047365dupA			A8K7A3|A8MVQ1|B4DQ08|E9PEL7|Q5JYF1	Frame_Shift_Ins	INS	pfam_SSU_processome_Utp14	p.K10fs	ENST00000394422.3	37	c.17_18	CCDS14615.1	X																																																																																			UTP14A	-	pfam_SSU_processome_Utp14	ENSG00000156697		0.366	UTP14A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UTP14A	HGNC	protein_coding	OTTHUMT00000058221.1		0.00	71	0	0	NM_006649		129047356	+1			no_errors	ENST00000371042	ensembl	human	known	74_37	frame_shift_ins	11.11	56	7	INS	0.814:0.011	A
VCAM1	7412	genome.wustl.edu	37	1	101190445	101190445	+	Splice_Site	SNP	A	A	C			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr1:101190445A>C	ENST00000294728.2	+	4	1028	c.927A>C	c.(925-927)caA>caC	p.Q309H	VCAM1_ENST00000370115.1_Splice_Site_p.Q309H|VCAM1_ENST00000370119.4_Splice_Site_p.Q247H|VCAM1_ENST00000347652.2_Splice_Site_p.Q309H	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	309	Ig-like C2-type 3.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|amine metabolic process (GO:0009308)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chorio-allantoic fusion (GO:0060710)|chronic inflammatory response (GO:0002544)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|oxidation-reduction process (GO:0055114)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|viral process (GO:0016032)	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex (GO:0071065)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|podosome (GO:0002102)|sarcolemma (GO:0042383)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|primary amine oxidase activity (GO:0008131)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	TAATTGTTCAAGGTGAGTAGA	0.368																																																	0													80.0	80.0	80.0					1																	101190445		2203	4300	6503	SO:0001630	splice_region_variant	0			M60335	CCDS773.1, CCDS774.1, CCDS55617.1	1p32-p31	2014-01-30			ENSG00000162692	ENSG00000162692		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	12663	protein-coding gene	gene with protein product		192225					Standard	NM_080682		Approved	CD106	uc001dti.3	P19320	OTTHUMG00000010982	ENST00000294728.2:c.928+1A>C	1.37:g.101190445A>C			A8K6R7|B4DKS4|E9PDD1|Q6NUP8	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_C2-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom,prints_VCAM-1,prints_ICAM_VCAM_N	p.Q309H	ENST00000294728.2	37	c.927	CCDS773.1	1	.	.	.	.	.	.	.	.	.	.	a	15.50	2.852005	0.51270	.	.	ENSG00000162692	ENST00000370119;ENST00000347652;ENST00000294728;ENST00000370115	T;T;T;T	0.11821	2.74;4.0;2.74;2.74	5.38	4.26	0.50523	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.347201	0.32401	N	0.006143	T	0.12220	0.0297	M	0.62154	1.92	0.44579	D	0.997549	B;P;D	0.61080	0.049;0.898;0.989	B;P;P	0.57548	0.018;0.605;0.823	T	0.14531	-1.0469	10	0.16896	T	0.51	-3.7543	8.2535	0.31741	0.9092:0.0:0.0908:0.0	.	247;309;309	E9PDD1;P19320-2;P19320	.;.;VCAM1_HUMAN	H	247;309;309;309	ENSP00000359137:Q247H;ENSP00000304611:Q309H;ENSP00000294728:Q309H;ENSP00000359133:Q309H	ENSP00000294728:Q309H	Q	+	3	2	VCAM1	100963033	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	2.598000	0.46223	0.998000	0.38996	0.529000	0.55759	CAA	VCAM1	-	smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000162692		0.368	VCAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VCAM1	HGNC	protein_coding	OTTHUMT00000030213.1	-	0.00	26	0	A	NM_001078	Missense_Mutation	101190445	+1	tier1	-	no_errors	ENST00000294728	ensembl	human	known	74_37	missense	10.00	36	4	SNP	1.000	C
VDR	7421	genome.wustl.edu	37	12	48240573	48240573	+	Missense_Mutation	SNP	G	G	T			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr12:48240573G>T	ENST00000395324.2	-	8	1042	c.774C>A	c.(772-774)gaC>gaA	p.D258E	VDR_ENST00000549336.1_Missense_Mutation_p.D258E|VDR_ENST00000535672.1_Missense_Mutation_p.D226E|VDR_ENST00000550325.1_Missense_Mutation_p.D308E|VDR_ENST00000229022.3_Missense_Mutation_p.D258E			P11473	VDR_HUMAN	vitamin D (1,25- dihydroxyvitamin D3) receptor	258	Ligand-binding.				bile acid signaling pathway (GO:0038183)|calcium ion transport (GO:0006816)|cell morphogenesis (GO:0000902)|cellular calcium ion homeostasis (GO:0006874)|decidualization (GO:0046697)|gene expression (GO:0010467)|intestinal absorption (GO:0050892)|lactation (GO:0007595)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|regulation of calcidiol 1-monooxygenase activity (GO:0060558)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vitamin D receptor signaling pathway (GO:0070561)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcitriol binding (GO:1902098)|calcitriol receptor activity (GO:0008434)|DNA binding (GO:0003677)|lithocholic acid binding (GO:1902121)|lithocholic acid receptor activity (GO:0038186)|retinoid X receptor binding (GO:0046965)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(3)|skin(2)	22		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)		GBM - Glioblastoma multiforme(48;0.17)	Alfacalcidol(DB01436)|Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	GTACGATCTGGTCCTCAGAGG	0.522																																																	0													151.0	116.0	128.0					12																	48240573		2203	4300	6503	SO:0001583	missense	0			J03258	CCDS8757.1, CCDS55820.1	12q12-q14	2014-06-13				ENSG00000111424		"""Nuclear hormone receptors"""	12679	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 163"""	601769				1662663	Standard	NM_001017536		Approved	NR1I1, PPP1R163	uc001rql.3	P11473		ENST00000395324.2:c.774C>A	12.37:g.48240573G>T	ENSP00000378734:p.Asp258Glu		B2R5Q1|G3V1V9|Q5PSV3	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_VitD_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.D258E	ENST00000395324.2	37	c.774	CCDS8757.1	12	.	.	.	.	.	.	.	.	.	.	G	20.7	4.027057	0.75390	.	.	ENSG00000111424	ENST00000395324;ENST00000229022;ENST00000549336;ENST00000550325;ENST00000535672	D;D;D;D;D	0.99939	-8.36;-8.36;-8.36;-8.36;-8.36	5.23	4.33	0.51752	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.045078	0.85682	D	0.000000	D	0.99935	0.9971	H	0.94264	3.515	0.52099	D	0.999945	D;D;D	0.89917	0.999;1.0;0.998	D;D;D	0.85130	0.992;0.997;0.962	D	0.96203	0.9147	10	0.87932	D	0	.	8.2484	0.31702	0.1812:0.0:0.8188:0.0	.	226;258;308	B4DRV7;P11473;G3V1V9	.;VDR_HUMAN;.	E	258;258;258;308;226	ENSP00000378734:D258E;ENSP00000229022:D258E;ENSP00000449573:D258E;ENSP00000447173:D308E;ENSP00000442145:D226E	ENSP00000229022:D258E	D	-	3	2	VDR	46526840	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.833000	0.48159	1.344000	0.45657	0.655000	0.94253	GAC	VDR	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt	ENSG00000111424		0.522	VDR-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	VDR	HGNC	protein_coding	OTTHUMT00000406433.1		0.00	36	0	G			48240573	-1			no_errors	ENST00000229022	ensembl	human	known	74_37	missense	5.41	35	2	SNP	1.000	T
VPS13B	157680	genome.wustl.edu	37	8	100865821	100865821	+	Missense_Mutation	SNP	G	G	T			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr8:100865821G>T	ENST00000358544.2	+	56	10390	c.10279G>T	c.(10279-10281)Gct>Tct	p.A3427S	VPS13B_ENST00000357162.2_Missense_Mutation_p.A3402S|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3427					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GGCCCCGGGAGCTGGTCCCCT	0.532																																					Colon(161;2205 2542 7338 31318)												0													67.0	63.0	64.0					8																	100865821		2203	4300	6503	SO:0001583	missense	0			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.10279G>T	8.37:g.100865821G>T	ENSP00000351346:p.Ala3427Ser		C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	pfam_Autophagy-rel_C	p.A3427S	ENST00000358544.2	37	c.10279	CCDS6280.1	8	.	.	.	.	.	.	.	.	.	.	G	0.026	-1.367768	0.01225	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.68765	-0.35;-0.35	5.43	3.6	0.41247	.	0.546396	0.18494	N	0.139570	T	0.46814	0.1412	L	0.29908	0.895	0.18873	N	0.999986	B;B	0.15473	0.013;0.008	B;B	0.09377	0.004;0.002	T	0.25950	-1.0117	10	0.11485	T	0.65	.	5.7419	0.18098	0.2395:0.1525:0.608:0.0	.	3402;3427	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	S	3402;3427	ENSP00000349685:A3402S;ENSP00000351346:A3427S	ENSP00000349685:A3402S	A	+	1	0	VPS13B	100934997	0.001000	0.12720	0.023000	0.16930	0.106000	0.19336	0.593000	0.23999	0.617000	0.30160	0.650000	0.86243	GCT	VPS13B	-	NULL	ENSG00000132549		0.532	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13B	HGNC	protein_coding	OTTHUMT00000277138.1	-	0.00	44	0	G	NM_184042		100865821	+1	tier1	-	no_errors	ENST00000358544	ensembl	human	known	74_37	missense	16.07	47	9	SNP	0.007	T
VPS36	51028	genome.wustl.edu	37	13	53000037	53000038	+	Intron	INS	-	-	A	rs200170312		TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr13:53000037_53000038insA	ENST00000378060.4	-	9	802					NM_001282168.1|NM_001282169.1|NM_016075.2	NP_001269097.1|NP_001269098.1|NP_057159.2	Q86VN1	VPS36_HUMAN	vacuolar protein sorting 36 homolog (S. cerevisiae)						endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylinositol-3-phosphate binding (GO:0032266)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	17		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.14e-08)		TAACACAGTTTAAAAAAAAACA	0.356																																																	0										2,4262		0,2,2130						0.4	0.0			60	1,8253		0,1,4126	no	intron	VPS36	NM_016075.2		0,3,6256	A1A1,A1R,RR		0.0121,0.0469,0.024				3,12515				SO:0001627	intron_variant	0			AF151903	CCDS9434.1, CCDS73577.1	13q14.13	2008-02-05	2007-01-12	2005-08-02	ENSG00000136100	ENSG00000136100			20312	protein-coding gene	gene with protein product		610903	"""chromosome 13 open reading frame 9"", ""vacuolar protein sorting 36 homolog (yeast)"""	C13orf9		11278625, 15755741	Standard	NM_016075		Approved	CGI-145, Eap45	uc001vgs.3	Q86VN1	OTTHUMG00000016964	ENST00000378060.4:c.774+28->T	13.37:g.53000046_53000046dupA			A8K125|Q3ZCV7|Q5H9S1|Q5VXB6|Q9H8Z5|Q9Y3E3	RNA	INS	-	NULL	ENST00000378060.4	37	NULL	CCDS9434.1	13																																																																																			VPS36	-	-	ENSG00000136100		0.356	VPS36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS36	HGNC	protein_coding	OTTHUMT00000045059.3		0.00	52	0	-			53000038	-1	tier1		no_errors	ENST00000492650	ensembl	human	known	74_37	rna	7.81	59	5	INS	0.009:0.000	A
VPS9D1	9605	genome.wustl.edu	37	16	89777219	89777219	+	Missense_Mutation	SNP	G	G	A			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr16:89777219G>A	ENST00000389386.3	-	10	1157	c.1033C>T	c.(1033-1035)Cgg>Tgg	p.R345W	VPS9D1_ENST00000565452.1_5'Flank|VPS9D1_ENST00000561976.1_Missense_Mutation_p.R275W|VPS9D1-AS1_ENST00000562866.1_RNA	NM_004913.2	NP_004904.2	Q9Y2B5	VP9D1_HUMAN	VPS9 domain containing 1	345					ATP synthesis coupled proton transport (GO:0015986)		GTPase activator activity (GO:0005096)|transporter activity (GO:0005215)										TCCTGGGGCCGCGGGGCTGCG	0.736																																																	0													2.0	2.0	2.0					16																	89777219		1388	3208	4596	SO:0001583	missense	0			AB018551	CCDS42220.1	16q24.3	2012-10-09	2012-10-09	2012-10-09	ENSG00000075399	ENSG00000075399			13526	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 7"""	C16orf7		10231027	Standard	NM_004913		Approved	ATP-BL	uc002fom.1	Q9Y2B5	OTTHUMG00000173219	ENST00000389386.3:c.1033C>T	16.37:g.89777219G>A	ENSP00000374037:p.Arg345Trp			Missense_Mutation	SNP	pfam_VPS9,smart_VPS9_subgr,pfscan_VPS9	p.R345W	ENST00000389386.3	37	c.1033	CCDS42220.1	16	.	.	.	.	.	.	.	.	.	.	G	6.441	0.449432	0.12223	.	.	ENSG00000075399	ENST00000389386;ENST00000261625	.	.	.	4.14	-8.28	0.01013	.	0.562435	0.18202	N	0.148478	T	0.25044	0.0608	L	0.47716	1.5	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.06862	-1.0803	9	0.72032	D	0.01	.	4.5524	0.12120	0.1312:0.0911:0.2095:0.5683	.	345	Q9Y2B5	CP007_HUMAN	W	345;376	.	ENSP00000261625:R376W	R	-	1	2	C16orf7	88304720	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.613000	0.05610	-2.488000	0.00518	-2.616000	0.00158	CGG	VPS9D1	-	NULL	ENSG00000075399		0.736	VPS9D1-002	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	VPS9D1	HGNC	protein_coding	OTTHUMT00000422508.1	-	0.00	23	0	G	NM_004913		89777219	-1	tier1	-	no_errors	ENST00000389386	ensembl	human	known	74_37	missense	48.57	36	34	SNP	0.000	A
WASF3	10810	genome.wustl.edu	37	13	27256996	27256996	+	Silent	SNP	T	T	G			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr13:27256996T>G	ENST00000335327.5	+	9	1414	c.1236T>G	c.(1234-1236)tcT>tcG	p.S412S	WASF3_ENST00000361042.4_Silent_p.S409S	NM_006646.5	NP_006637.2	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	412					actin filament polymerization (GO:0030041)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|oligodendrocyte development (GO:0014003)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		GTCCCGGGTCTTCTCTTTCGT	0.687																																																	0													46.0	57.0	53.0					13																	27256996		2192	4286	6478	SO:0001819	synonymous_variant	0			AB020707	CCDS9318.1	13q12	2008-06-23			ENSG00000132970	ENSG00000132970			12734	protein-coding gene	gene with protein product		605068				10381382	Standard	NM_006646		Approved	WAVE3, SCAR3, KIAA0900	uc001uqv.3	Q9UPY6	OTTHUMG00000016621	ENST00000335327.5:c.1236T>G	13.37:g.27256996T>G			O94974|Q86VQ2	Silent	SNP	pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom	p.S412	ENST00000335327.5	37	c.1236	CCDS9318.1	13																																																																																			WASF3	-	NULL	ENSG00000132970		0.687	WASF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WASF3	HGNC	protein_coding	OTTHUMT00000044258.1	-	0.00	90	0	T			27256996	+1	tier1	-	no_errors	ENST00000335327	ensembl	human	known	74_37	silent	36.56	59	34	SNP	0.924	G
ZBTB18	10472	genome.wustl.edu	37	1	244217095	244217095	+	Missense_Mutation	SNP	G	G	A			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr1:244217095G>A	ENST00000358704.4	+	2	168	c.19G>A	c.(19-21)Gaa>Aaa	p.E7K		NM_001278196.1|NM_006352.4|NM_205768.2	NP_001265125.1|NP_006343.2|NP_991331.1	Q99592	ZBT18_HUMAN	zinc finger and BTB domain containing 18	0					cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron development (GO:0048666)|regulation of cell division (GO:0051302)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)										CCCAGGTTATGAAGACAGTAT	0.473																																																	0													60.0	59.0	59.0					1																	244217095		2203	4300	6503	SO:0001583	missense	0			U38896	CCDS1622.1	1q44	2013-09-19	2013-01-09	2013-01-09	ENSG00000179456	ENSG00000179456		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13030	protein-coding gene	gene with protein product		608433	"""zinc finger protein 238"""	ZNF238		9568537, 9013868	Standard	NM_205768		Approved	C2H2-171, TAZ-1, RP58	uc031psv.1	Q99592	OTTHUMG00000040013	ENST00000358704.4:c.19G>A	1.37:g.244217095G>A	ENSP00000351539:p.Glu7Lys		A8K5U3|Q13397|Q5VU40|Q8N463|Q9UD99	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.E7K	ENST00000358704.4	37	c.19	CCDS1622.1	1	.	.	.	.	.	.	.	.	.	.	G	16.63	3.177457	0.57692	.	.	ENSG00000179456	ENST00000366538;ENST00000358704	T	0.11712	2.75	5.22	5.22	0.72569	.	0.382752	0.23076	N	0.052209	T	0.20780	0.0500	N	0.22421	0.69	0.58432	D	0.999999	D	0.60575	0.988	P	0.62885	0.908	T	0.02774	-1.1112	10	0.66056	D	0.02	.	18.7661	0.91873	0.0:0.0:1.0:0.0	.	7	Q99592-2	.	K	7	ENSP00000351539:E7K	ENSP00000351539:E7K	E	+	1	0	ZNF238	242283718	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.432000	0.82394	0.655000	0.94253	GAA	ZBTB18	-	superfamily_BTB/POZ_fold	ENSG00000179456		0.473	ZBTB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB18	HGNC	protein_coding	OTTHUMT00000096513.2	-	0.00	106	0	G	NM_205768		244217095	+1	tier1	-	no_errors	ENST00000358704	ensembl	human	known	74_37	missense	20.88	72	19	SNP	1.000	A
ZFR	51663	genome.wustl.edu	37	5	32407029	32407029	+	Silent	SNP	A	A	T	rs139769264		TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr5:32407029A>T	ENST00000265069.8	-	6	984	c.882T>A	c.(880-882)gcT>gcA	p.A294A		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	294	Ala-rich.				multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.A294A(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		cagcagcagcagctgctgctg	0.483																																																	1	Substitution - coding silent(1)	endometrium(1)						A		0,4406		0,0,2203	35.0	36.0	36.0		882	-7.9	1.0	5	dbSNP_134	36	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZFR	NM_016107.3		0,1,6502	TT,TA,AA		0.0116,0.0,0.0077		294/1075	32407029	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AF100742	CCDS34139.1	5p15.2	2014-03-03			ENSG00000056097	ENSG00000056097			17277	protein-coding gene	gene with protein product		615635				11574164, 24482476	Standard	NM_016107		Approved	ZFR1, SPG71	uc003jhr.1	Q96KR1	OTTHUMG00000161979	ENST00000265069.8:c.882T>A	5.37:g.32407029A>T			B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	Silent	SNP	pfam_DZF,pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like,smart_DZF	p.A294	ENST00000265069.8	37	c.882	CCDS34139.1	5	.	.	.	.	.	.	.	.	.	.	A	11.68	1.711849	0.30322	0.0	1.16E-4	ENSG00000056097	ENST00000416900	.	.	.	5.89	-7.9	0.01169	.	.	.	.	.	T	0.27731	0.0682	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33292	-0.9874	5	0.08179	T	0.78	.	8.2119	0.31488	0.2876:0.1859:0.0:0.5266	.	.	.	.	S	175	.	ENSP00000393243:C175S	C	-	1	0	ZFR	32442786	0.089000	0.21612	0.989000	0.46669	0.998000	0.95712	-1.076000	0.03420	-0.596000	0.05821	0.454000	0.30748	TGC	ZFR	-	NULL	ENSG00000056097		0.483	ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFR	HGNC	protein_coding	OTTHUMT00000366586.1		0.00	37	0	A			32407029	-1			no_errors	ENST00000265069	ensembl	human	known	74_37	silent	6.00	47	3	SNP	0.601	T
ZIC3	7547	genome.wustl.edu	37	X	136648985	136648987	+	In_Frame_Del	DEL	CGC	CGC	-			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	CGC	CGC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chrX:136648985_136648987delCGC	ENST00000287538.5	+	1	685_687	c.135_137delCGC	c.(133-138)cacgcc>cac	p.A55del	ZIC3_ENST00000370606.3_In_Frame_Del_p.A55del|RP1-137H15.2_ENST00000442841.1_RNA|RP1-137H15.2_ENST00000456631.1_RNA	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	55	Poly-Ala.				anterior/posterior pattern specification (GO:0009952)|cell differentiation (GO:0030154)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of left/right asymmetry in nervous system (GO:0035545)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|heart looping (GO:0001947)|lung development (GO:0030324)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					ACTCAACCCAcgccgccgccgcc	0.719																																																	0										60,940		22,10,6,431,68						4.2	1.0			3	130,2214		24,44,38,840,490	no	coding	ZIC3	NM_003413.3		46,54,44,1271,558	A1A1,A1R,A1,RR,R		5.5461,6.0,5.6818				190,3154				SO:0001651	inframe_deletion	0			AF028706	CCDS14663.1	Xq24-q27.1	2013-01-08	2011-05-19		ENSG00000156925	ENSG00000156925		"""Zinc fingers, C2H2-type"""	12874	protein-coding gene	gene with protein product		300265	"""heterotaxy 1"", ""Zic family member 3 (odd-paired homolog, Drosophila)"""	HTX1		8298651, 7747776	Standard	NM_003413		Approved	HTX, ZNF203	uc004fak.3	O60481	OTTHUMG00000022525	ENST00000287538.5:c.135_137delCGC	X.37:g.136648994_136648996delCGC	ENSP00000287538:p.Ala55del		B2CNW4|Q14DE5|Q5JY75	In_Frame_Del	DEL	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A49in_frame_del	ENST00000287538.5	37	c.135_137	CCDS14663.1	X																																																																																			ZIC3	-	NULL	ENSG00000156925		0.719	ZIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZIC3	HGNC	protein_coding	OTTHUMT00000058526.1		0.00	15	0	CGC			136648987	+1	tier1		no_errors	ENST00000287538	ensembl	human	known	74_37	in_frame_del	15.38	11	2	DEL	1.000:1.000:1.000	-
ZNF345	25850	genome.wustl.edu	37	19	37368648	37368648	+	Missense_Mutation	SNP	A	A	G			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr19:37368648A>G	ENST00000529555.1	+	2	1704	c.916A>G	c.(916-918)Aga>Gga	p.R306G	ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000420450.1_Missense_Mutation_p.R306G|ZNF345_ENST00000589046.1_Missense_Mutation_p.R306G|ZNF345_ENST00000432005.2_Intron			Q14585	ZN345_HUMAN	zinc finger protein 345	306					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCAGCATCAGAGAATTCACAC	0.403																																																	0													78.0	83.0	81.0					19																	37368648		2203	4300	6503	SO:0001583	missense	0			X78933	CCDS12497.1	19q13.12	2013-01-08			ENSG00000251247	ENSG00000251247		"""Zinc fingers, C2H2-type"""	16367	protein-coding gene	gene with protein product						7865130	Standard	NM_003419		Approved	HZF10	uc002oey.4	Q14585	OTTHUMG00000048162	ENST00000529555.1:c.916A>G	19.37:g.37368648A>G	ENSP00000431202:p.Arg306Gly			Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R306G	ENST00000529555.1	37	c.916	CCDS12497.1	19	.	.	.	.	.	.	.	.	.	.	A	14.42	2.529062	0.44969	.	.	ENSG00000251247	ENST00000420450;ENST00000529555;ENST00000344705	T;T	0.02421	4.3;4.3	3.93	1.7	0.24286	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05823	0.0152	M	0.86651	2.83	0.22719	N	0.998813	B	0.31817	0.341	B	0.34242	0.178	T	0.38779	-0.9645	9	0.87932	D	0	.	1.1573	0.01799	0.5117:0.1953:0.1051:0.1879	.	306	Q14585	ZN345_HUMAN	G	306;306;70	ENSP00000431216:R306G;ENSP00000431202:R306G	ENSP00000442320:R70G	R	+	1	2	ZNF345	42060488	0.000000	0.05858	1.000000	0.80357	0.985000	0.73830	-0.725000	0.04942	0.146000	0.19002	-0.429000	0.05907	AGA	ZNF345	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000251247		0.403	ZNF345-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF345	HGNC	protein_coding	OTTHUMT00000388258.1	-	0.00	61	0	A			37368648	+1	tier1	-	no_errors	ENST00000420450	ensembl	human	known	74_37	missense	27.42	45	17	SNP	0.989	G
ZNF664	144348	genome.wustl.edu	37	12	124497178	124497178	+	Silent	SNP	A	A	C			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr12:124497178A>C	ENST00000539644.1	+	6	2317	c.487A>C	c.(487-489)Aga>Cga	p.R163R	FAM101A_ENST00000545615.1_Intron|ZNF664_ENST00000337815.4_Silent_p.R163R|ZNF664_ENST00000392404.3_Silent_p.R163R|ZNF664_ENST00000538932.2_Silent_p.R163R			Q8N3J9	ZN664_HUMAN	zinc finger protein 664	163					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|large_intestine(5)|lung(6)|skin(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249)		CATGCATCAAAGAGTCCACAC	0.517																																																	0													86.0	92.0	90.0					12																	124497178		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS9257.1	12q24.31	2013-05-10			ENSG00000179195	ENSG00000179195		"""Zinc fingers, C2H2-type"""	25406	protein-coding gene	gene with protein product			"""zinc finger protein 176"""	ZNF176		12477932	Standard	NM_001204298		Approved	ZFOC1, DKFZp761B128	uc001uga.3	Q8N3J9	OTTHUMG00000168596	ENST00000539644.1:c.487A>C	12.37:g.124497178A>C			B3KP97|Q15914|Q3ZCQ7	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R163	ENST00000539644.1	37	c.487	CCDS9257.1	12																																																																																			ZNF664	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000179195		0.517	ZNF664-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF664	HGNC	protein_coding	OTTHUMT00000400365.1	-	0.00	83	0	A	NM_152437		124497178	+1	tier1	-	no_errors	ENST00000337815	ensembl	human	known	74_37	silent	18.57	57	13	SNP	0.945	C
ZNF726	730087	genome.wustl.edu	37	19	24118224	24118224	+	Missense_Mutation	SNP	T	T	G			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr19:24118224T>G	ENST00000322487.7	+	7	2250	c.2165T>G	c.(2164-2166)cTt>cGt	p.L722R	CTB-92J24.3_ENST00000596326.1_RNA|ZNF726_ENST00000575986.1_Intron|ZNF726_ENST00000334589.5_Intron			A6NNF4	ZN726_HUMAN	zinc finger protein 726	722					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										TCCTCACATCTTACTACAGAT	0.353																																																	0																																										SO:0001583	missense	0			DQ036016, BC046415	CCDS59372.1	19p12	2013-01-08			ENSG00000213967	ENSG00000213967		"""Zinc fingers, C2H2-type"", ""-"""	32462	protein-coding gene	gene with protein product							Standard	NM_001244038		Approved		uc021urw.1	A6NNF4	OTTHUMG00000167681	ENST00000322487.7:c.2165T>G	19.37:g.24118224T>G	ENSP00000317125:p.Leu722Arg		M0R0X8|Q86Y87	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L722R	ENST00000322487.7	37	c.2165		19	.	.	.	.	.	.	.	.	.	.	t	8.638	0.895335	0.17613	.	.	ENSG00000213967	ENST00000322487	T	0.69040	-0.37	0.814	0.814	0.18756	.	.	.	.	.	T	0.61476	0.2350	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.56025	-0.8047	6	0.87932	D	0	.	5.4337	0.16469	0.0:0.0:0.0:1.0	.	.	.	.	R	722	ENSP00000317125:L722R	ENSP00000317125:L722R	L	+	2	0	ZNF726	23910064	0.093000	0.21703	0.069000	0.20011	0.085000	0.17905	4.298000	0.59067	0.158000	0.19367	0.156000	0.16432	CTT	ZNF726	-	NULL	ENSG00000213967		0.353	ZNF726-201	KNOWN	basic|appris_principal	protein_coding	ZNF726	HGNC	protein_coding		-	0.00	83	0	T	XM_001715134		24118224	+1	tier1	-	no_errors	ENST00000322487	ensembl	human	known	74_37	missense	23.75	61	19	SNP	0.007	G
ZNF800	168850	genome.wustl.edu	37	7	127026124	127026124	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr7:127026124G>T	ENST00000393313.1	-	3	738	c.147C>A	c.(145-147)tgC>tgA	p.C49*	ZNF800_ENST00000393312.1_Nonsense_Mutation_p.C49*|ZNF800_ENST00000265827.3_Nonsense_Mutation_p.C49*			Q2TB10	ZN800_HUMAN	zinc finger protein 800	49					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						CTGATCGAAAGCACTCAATTA	0.318																																																	0													104.0	98.0	100.0					7																	127026124		2203	4300	6503	SO:0001587	stop_gained	0			AF218032	CCDS5795.1	7q31.33	2008-05-02			ENSG00000048405	ENSG00000048405		"""Zinc fingers, C2H2-type"""	27267	protein-coding gene	gene with protein product						12477932	Standard	NM_176814		Approved		uc003vly.1	Q2TB10	OTTHUMG00000023456	ENST00000393313.1:c.147C>A	7.37:g.127026124G>T	ENSP00000376989:p.Cys49*		Q9HBN0	Nonsense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.C49*	ENST00000393313.1	37	c.147	CCDS5795.1	7	.	.	.	.	.	.	.	.	.	.	G	36	5.954410	0.97139	.	.	ENSG00000048405	ENST00000393313;ENST00000265827;ENST00000393312;ENST00000434602;ENST00000436992;ENST00000439506	.	.	.	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.9128	7.9435	0.29971	0.1748:0.0:0.8252:0.0	.	.	.	.	X	49	.	ENSP00000265827:C49X	C	-	3	2	ZNF800	126813360	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.827000	0.48112	2.546000	0.85860	0.655000	0.94253	TGC	ZNF800	-	NULL	ENSG00000048405		0.318	ZNF800-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	ZNF800	HGNC	protein_coding	OTTHUMT00000141823.1		0.00	75	0	G	NM_176814		127026124	-1			no_errors	ENST00000265827	ensembl	human	known	74_37	nonsense	10.14	62	7	SNP	1.000	T
ZNF823	55552	genome.wustl.edu	37	19	11833536	11833536	+	Silent	SNP	G	G	A	rs373610199		TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr19:11833536G>A	ENST00000341191.6	-	4	966	c.813C>T	c.(811-813)acC>acT	p.T271T	ZNF823_ENST00000545749.1_Silent_p.T89T	NM_001080493.2	NP_001073962.1	P16415	ZN823_HUMAN	zinc finger protein 823	271					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)	26						GTTTCTCTCCGGTGTGAGTTC	0.433										HNSCC(68;0.2)																																							0								G		2,4396	4.2+/-10.8	0,2,2197	75.0	78.0	77.0		813	-1.3	0.0	19		77	0,8598		0,0,4299	no	coding-synonymous	ZNF823	NM_001080493.2		0,2,6496	AA,AG,GG		0.0,0.0455,0.0154		271/611	11833536	2,12994	2199	4299	6498	SO:0001819	synonymous_variant	0			X51760	CCDS45981.1	19p13.2	2013-01-08			ENSG00000197933	ENSG00000197933		"""Zinc fingers, C2H2-type"", ""-"""	30936	protein-coding gene	gene with protein product	"""ZFP 36 for a zinc finger protein"""						Standard	XM_006722789		Approved	HSZFP36	uc002msm.2	P16415	OTTHUMG00000156528	ENST00000341191.6:c.813C>T	19.37:g.11833536G>A			A0PJL4|B7Z8D4|Q6P4A9	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T271	ENST00000341191.6	37	c.813	CCDS45981.1	19																																																																																			ZNF823	-	pfscan_Znf_C2H2	ENSG00000197933		0.433	ZNF823-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF823	HGNC	protein_coding	OTTHUMT00000344516.2	-	0.00	98	0	G	NM_001080493		11833536	-1	tier1	-	no_errors	ENST00000341191	ensembl	human	known	74_37	silent	16.22	93	18	SNP	0.972	A
ZNF860	344787	genome.wustl.edu	37	3	32032151	32032151	+	Missense_Mutation	SNP	G	G	A			TCGA-ZR-A9CJ-01B-11D-A387-09	TCGA-ZR-A9CJ-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0847e32a-4c16-47a8-8117-d7f37a42c69e	98ee0b56-8d1d-489e-8c16-b55cd08b04ac	g.chr3:32032151G>A	ENST00000360311.4	+	2	2129	c.1580G>A	c.(1579-1581)cGt>cAt	p.R527H		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	527					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(3)|lung(4)|ovary(1)	8						ACCCTTGCACGTCATCATAGA	0.373																																																	0													38.0	34.0	35.0					3																	32032151		692	1591	2283	SO:0001583	missense	0			AK294003	CCDS46784.1	3p24.1	2013-01-08			ENSG00000197385	ENSG00000197385		"""Zinc fingers, C2H2-type"", ""-"""	34513	protein-coding gene	gene with protein product							Standard	NM_001137674		Approved		uc011axg.2	A6NHJ4	OTTHUMG00000155838	ENST00000360311.4:c.1580G>A	3.37:g.32032151G>A	ENSP00000373274:p.Arg527His		B4DFA4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R527H	ENST00000360311.4	37	c.1580	CCDS46784.1	3	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.689263	0.00738	.	.	ENSG00000197385	ENST00000360311	T	0.26810	1.71	0.309	-0.618	0.11576	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.18341	0.0440	M	0.71206	2.165	0.09310	N	1	P	0.49253	0.921	B	0.28305	0.088	T	0.08848	-1.0702	8	.	.	.	.	5.8662	0.18777	0.2612:0.0:0.7388:0.0	.	527	A6NHJ4	ZN860_HUMAN	H	527	ENSP00000373274:R527H	.	R	+	2	0	ZNF860	32007155	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-5.476000	0.00119	-1.259000	0.02468	-1.266000	0.01441	CGT	ZNF860	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197385		0.373	ZNF860-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF860	HGNC	protein_coding	OTTHUMT00000341957.1	-	0.00	94	0	G			32032151	+1	tier1	-	no_errors	ENST00000360311	ensembl	human	known	74_37	missense	44.79	53	43	SNP	0.000	A
