#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	87183163	87183163	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr7:87183163G>T	ENST00000265724.3	-	10	1330	c.913C>A	c.(913-915)Ctg>Atg	p.L305M	ABCB1_ENST00000543898.1_Missense_Mutation_p.L241M	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	305	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)	p.L305L(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)	GCATAGATCAGCAGGAAAGCA	0.393																																																	1	Substitution - coding silent(1)	endometrium(1)											180.0	171.0	174.0					7																	87183163		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.913C>A	7.37:g.87183163G>T	ENSP00000265724:p.Leu305Met		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.L305M	ENST00000265724.3	37	c.913	CCDS5608.1	7	.	.	.	.	.	.	.	.	.	.	G	12.76	2.035596	0.35893	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.91351	-2.83;-2.83	5.41	-0.731	0.11151	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.053593	0.64402	D	0.000001	D	0.89005	0.6592	L	0.48642	1.525	0.38289	D	0.942642	P;P	0.51537	0.798;0.946	B;P	0.50617	0.04;0.646	D	0.86718	0.1940	10	0.45353	T	0.12	-12.6395	13.2389	0.59985	0.1465:0.0:0.8535:0.0	.	241;305	B5AK60;P08183	.;MDR1_HUMAN	M	86;305;241	ENSP00000265724:L305M;ENSP00000444095:L241M	ENSP00000265724:L305M	L	-	1	2	ABCB1	87021099	0.001000	0.12720	0.383000	0.26132	0.921000	0.55340	-0.206000	0.09398	-0.347000	0.08299	0.655000	0.94253	CTG	ABCB1	-	pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom	ENSG00000085563		0.393	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB1	HGNC	protein_coding	OTTHUMT00000335444.2		0.00	17	0	G	NM_000927		87183163	-1			no_errors	ENST00000265724	ensembl	human	known	74_37	missense	9.09	30	3	SNP	0.928	T
ABCC8	6833	genome.wustl.edu	37	11	17483265	17483265	+	Silent	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr11:17483265G>T	ENST00000389817.3	-	5	755	c.687C>A	c.(685-687)acC>acA	p.T229T	ABCC8_ENST00000302539.4_Silent_p.T229T			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	229					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	TCCACCAGTAGGTGCCTTTGG	0.587																																																	0													165.0	141.0	149.0					11																	17483265		2200	4293	6493	SO:0001819	synonymous_variant	0			L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"""ATP binding cassette transporters / subfamily C"""	59	protein-coding gene	gene with protein product	"""sulfonylurea receptor (hyperinsulinemia)"""	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.687C>A	11.37:g.17483265G>T			A6NMX8|E3UYX6|O75948|Q16583	Silent	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Surea_rcpt-1,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.T229	ENST00000389817.3	37	c.687	CCDS31437.1	11																																																																																			ABCC8	-	NULL	ENSG00000006071		0.587	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABCC8	HGNC	protein_coding	OTTHUMT00000389093.1	-	0.00	113	0	G	NM_000352		17483265	-1	tier1	-	no_errors	ENST00000302539	ensembl	human	known	74_37	silent	6.35	59	4	SNP	0.984	T
ABCC9	10060	genome.wustl.edu	37	12	21998616	21998616	+	Nonsense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr12:21998616G>T	ENST00000261201.4	-	24	3016	c.3017C>A	c.(3016-3018)tCg>tAg	p.S1006*	ABCC9_ENST00000345162.2_Nonsense_Mutation_p.S970*|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000261200.4_Nonsense_Mutation_p.S1006*	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1006	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)	p.S1006L(1)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	TACAATGACCGAATGCTTCAA	0.438																																																	1	Substitution - Missense(1)	large_intestine(1)											122.0	106.0	112.0					12																	21998616		2203	4300	6503	SO:0001587	stop_gained	0			AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.3017C>A	12.37:g.21998616G>T	ENSP00000261201:p.Ser1006*		O60707	Nonsense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_Sulphorea_rcpt,prints_Sulphonylurea_rcpt-2	p.S1006*	ENST00000261201.4	37	c.3017	CCDS8694.1	12	.	.	.	.	.	.	.	.	.	.	G	42	9.490832	0.99186	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	.	.	.	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	-10.2527	19.1181	0.93350	0.0:0.0:1.0:0.0	.	.	.	.	X	1006;633;1006;970	.	ENSP00000261200:S1006X	S	-	2	0	ABCC9	21889883	1.000000	0.71417	0.992000	0.48379	0.993000	0.82548	9.547000	0.98100	2.756000	0.94617	0.655000	0.94253	TCG	ABCC9	-	pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom	ENSG00000069431		0.438	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	ABCC9	HGNC	protein_coding	OTTHUMT00000402230.1		0.00	11	0	G	NM_005691		21998616	-1			no_errors	ENST00000261200	ensembl	human	known	74_37	nonsense	6.45	29	2	SNP	1.000	T
ACOX2	8309	genome.wustl.edu	37	3	58503001	58503001	+	Missense_Mutation	SNP	G	G	T	rs142302007		TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr3:58503001G>T	ENST00000302819.5	-	13	2073	c.1782C>A	c.(1780-1782)gaC>gaA	p.D594E	ACOX2_ENST00000481527.1_5'UTR|ACOX2_ENST00000459701.2_Missense_Mutation_p.D580E	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN	acyl-CoA oxidase 2, branched chain	594					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity (GO:0033791)|acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)	p.D594D(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		ACAGGAAGGCGTCATGGAGAA	0.527																																																	1	Substitution - coding silent(1)	endometrium(1)											128.0	113.0	118.0					3																	58503001		2203	4300	6503	SO:0001583	missense	0			X95190	CCDS33775.1	3p14.3	2012-07-13	2010-04-30		ENSG00000168306	ENSG00000168306	1.17.99.3		120	protein-coding gene	gene with protein product	"""trihydroxycoprostanoyl-CoA oxidase"", ""3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanoyl-CoA 24-hydroxylase"""	601641	"""acyl-Coenzyme A oxidase 2, branched chain"""			8943006, 9070889	Standard	NM_003500		Approved	BRCACOX, BRCOX, THCCox	uc003dkl.3	Q99424	OTTHUMG00000159154	ENST00000302819.5:c.1782C>A	3.37:g.58503001G>T	ENSP00000307697:p.Asp594Glu		A6NF16|B2R8U5	Missense_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.D594E	ENST00000302819.5	37	c.1782	CCDS33775.1	3	.	.	.	.	.	.	.	.	.	.	G	17.19	3.326308	0.60743	.	.	ENSG00000168306	ENST00000459701;ENST00000302819	T;T	0.40225	1.04;1.04	4.9	-3.11	0.05299	Acyl-CoA oxidase, C-terminal (1);Acyl-CoA dehydrogenase/oxidase C-terminal (2);	0.000000	0.64402	D	0.000002	T	0.56046	0.1959	M	0.81942	2.565	0.44660	D	0.997649	D	0.60160	0.987	P	0.62740	0.906	T	0.59553	-0.7433	10	0.44086	T	0.13	-22.2622	11.3387	0.49520	0.5703:0.0:0.4297:0.0	.	594	Q99424	ACOX2_HUMAN	E	580;594	ENSP00000418562:D580E;ENSP00000307697:D594E	ENSP00000307697:D594E	D	-	3	2	ACOX2	58478041	0.714000	0.27936	0.989000	0.46669	0.786000	0.44442	-0.301000	0.08232	-0.396000	0.07703	-0.324000	0.08512	GAC	ACOX2	-	pfam_Acyl-CoA_oxidase_C,superfamily_AcylCo_DH/oxidase_C,pirsf_Acyl-CoA_oxidase	ENSG00000168306		0.527	ACOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACOX2	HGNC	protein_coding	OTTHUMT00000353541.1	-	0.00	48	0	G			58503001	-1	tier1	-	no_errors	ENST00000302819	ensembl	human	known	74_37	missense	6.78	55	4	SNP	0.994	T
ABI3BP	25890	genome.wustl.edu	37	3	100529318	100529318	+	Intron	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr3:100529318G>T	ENST00000284322.5	-	19	1707				ABI3BP_ENST00000471714.1_Missense_Mutation_p.T1189K|ABI3BP_ENST00000383691.4_Missense_Mutation_p.T466K	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein						extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular space (GO:0005615)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						CAGAGGCGACGTTTCTATGGT	0.398																																																	0																																										SO:0001627	intron_variant	0			AB056106	CCDS46880.1	3q12.2	2013-02-11	2008-09-12		ENSG00000154175	ENSG00000154175		"""Fibronectin type III domain containing"""	17265	protein-coding gene	gene with protein product	"""target of Nesh-SH3"""	606279				11501947	Standard	NM_015429		Approved	NESHBP, DKFZP586L2024, TARSH	uc003dun.3	Q7Z7G0	OTTHUMG00000159094	ENST00000284322.5:c.1598-2239C>A	3.37:g.100529318G>T			B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.T466K	ENST00000284322.5	37	c.1397	CCDS46880.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.87|15.87	2.960816|2.960816	0.53400|0.53400	.|.	.|.	ENSG00000154175|ENSG00000154175	ENST00000495591;ENST00000527943|ENST00000471714;ENST00000383691;ENST00000482765	.|T;T;T	.|0.20332	.|2.08;2.08;2.08	5.69|5.69	2.95|2.95	0.34219|0.34219	.|.	.|.	.|.	.|.	.|.	T|T	0.08980|0.08980	0.0222|0.0222	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|P;P	.|0.35401	.|0.499;0.499	.|B;B	.|0.34824	.|0.19;0.19	T|T	0.26292|0.26292	-1.0107|-1.0107	4|8	.|0.05959	.|T	.|0.93	.|.	7.714|7.714	0.28694|0.28694	0.2578:0.0:0.7422:0.0|0.2578:0.0:0.7422:0.0	.|.	.|466;1189	.|B4DSV9;D3YTG3	.|.;.	S|K	568;18|1189;466;61	.|ENSP00000420524:T1189K;ENSP00000373189:T466K;ENSP00000418800:T61K	.|ENSP00000373189:T466K	R|T	-|-	1|2	0|0	ABI3BP|ABI3BP	102012008|102012008	0.033000|0.033000	0.19621|0.19621	0.011000|0.011000	0.14972|0.14972	0.754000|0.754000	0.42855|0.42855	0.786000|0.786000	0.26844|0.26844	0.350000|0.350000	0.24002|0.24002	0.650000|0.650000	0.86243|0.86243	CGT|ACG	ABI3BP	-	NULL	ENSG00000154175		0.398	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABI3BP	HGNC	protein_coding	OTTHUMT00000353260.1	-	0.00	28	0	G			100529318	-1	tier1	-	no_errors	ENST00000383691	ensembl	human	known	74_37	missense	7.41	50	4	SNP	0.019	T
ADAM15	8751	genome.wustl.edu	37	1	155030841	155030841	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr1:155030841G>T	ENST00000356955.2	+	15	1942	c.1841G>T	c.(1840-1842)tGg>tTg	p.W614L	ADAM15_ENST00000359280.4_Missense_Mutation_p.W614L|ADAM15_ENST00000368410.2_Missense_Mutation_p.W320L|ADAM15_ENST00000360674.4_Missense_Mutation_p.W614L|ADAM15_ENST00000449910.2_Missense_Mutation_p.W614L|ADAM15_ENST00000355956.2_Missense_Mutation_p.W614L|ADAM15_ENST00000368413.1_Missense_Mutation_p.W320L|ADAM15_ENST00000368412.3_Missense_Mutation_p.W614L|ADAM15_ENST00000447332.3_Missense_Mutation_p.W598L|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000531455.1_Missense_Mutation_p.W624L|ADAM15_ENST00000271836.6_Missense_Mutation_p.W614L	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	614	Cys-rich.				angiogenesis (GO:0001525)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of receptor binding (GO:1900121)|protein kinase C signaling (GO:0070528)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			AACTGCAGCTGGGTGCACCTG	0.632																																																	0													60.0	55.0	57.0					1																	155030841		2203	4300	6503	SO:0001583	missense	0			U46005	CCDS1084.1, CCDS1085.1, CCDS1086.1, CCDS1087.1, CCDS1088.1, CCDS44236.1, CCDS58031.1, CCDS58032.1, CCDS60282.1	1q21.3	2008-02-05	2007-06-04		ENSG00000143537	ENSG00000143537		"""ADAM metallopeptidase domain containing"""	193	protein-coding gene	gene with protein product	"""metargidin"""	605548	"""a disintegrin and metalloproteinase domain 15 (metargidin)"""			9516430	Standard	NM_003815		Approved	MDC15	uc001fgr.2	Q13444	OTTHUMG00000013898	ENST00000356955.2:c.1841G>T	1.37:g.155030841G>T	ENSP00000349436:p.Trp614Leu		B3KQU5|B4DLB5|B4DMH8|E9PN65|Q13493|Q53XQ0|Q5SR68|Q5SR69|Q6R267|Q71S61|Q71S62|Q71S63|Q71S64|Q71S65|Q71S66|Q71S67|Q71S68|Q71S69|Q96C78|U3KQL5	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,pfam_Peptidase_M12B_N,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B	p.W614L	ENST00000356955.2	37	c.1841	CCDS1087.1	1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.002775	0.74932	.	.	ENSG00000143537	ENST00000356955;ENST00000449910;ENST00000359280;ENST00000360674;ENST00000368412;ENST00000355956;ENST00000368410;ENST00000271836;ENST00000368413;ENST00000531455	T;T;T;T;T;T;T;T;T;T	0.20881	2.04;2.04;2.04;2.04;2.04;2.04;2.04;2.04;2.04;2.04	5.37	4.44	0.53790	ADAM, cysteine-rich (2);	0.288723	0.20463	N	0.091842	T	0.23727	0.0574	L	0.57536	1.79	0.42479	D	0.992851	P;P;P;P;P;P;P;P;P;P;P	0.46578	0.763;0.763;0.741;0.855;0.855;0.837;0.837;0.734;0.551;0.88;0.775	B;B;P;P;P;P;P;P;P;P;P	0.54174	0.285;0.285;0.593;0.713;0.477;0.549;0.549;0.549;0.457;0.744;0.677	T	0.01532	-1.1331	10	0.56958	D	0.05	.	12.9853	0.58588	0.0:0.0:0.8375:0.1625	.	624;631;598;614;614;614;614;614;614;614;611	E9PN65;B7Z390;B4DMH8;Q13444-10;Q13444-2;Q13444-4;Q13444-5;Q13444-3;Q13444-9;Q13444;Q59GF2	.;.;.;.;.;.;.;.;.;ADA15_HUMAN;.	L	614;614;614;614;614;614;320;614;320;624	ENSP00000349436:W614L;ENSP00000403843:W614L;ENSP00000352226:W614L;ENSP00000353892:W614L;ENSP00000357397:W614L;ENSP00000348227:W614L;ENSP00000357395:W320L;ENSP00000271836:W614L;ENSP00000357398:W320L;ENSP00000432927:W624L	ENSP00000271836:W614L	W	+	2	0	ADAM15	153297465	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.856000	0.55964	1.447000	0.47661	0.650000	0.86243	TGG	ADAM15	-	pfam_ADAM_Cys-rich,smart_ADAM_Cys-rich	ENSG00000143537		0.632	ADAM15-019	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADAM15	HGNC	protein_coding	OTTHUMT00000387168.1	-	0.00	43	0	G	NM_003815		155030841	+1	tier1	-	no_errors	ENST00000356955	ensembl	human	known	74_37	missense	12.90	27	4	SNP	1.000	T
ADAM15	8751	genome.wustl.edu	37	1	155034985	155034985	+	3'UTR	SNP	C	C	A			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr1:155034985C>A	ENST00000356955.2	+	0	2700				ADAM15_ENST00000359280.4_3'UTR|ADAM15_ENST00000368410.2_3'UTR|EFNA4_ENST00000427683.2_5'Flank|ADAM15_ENST00000360674.4_3'UTR|ADAM15_ENST00000449910.2_3'UTR|ADAM15_ENST00000355956.2_3'UTR|ADAM15_ENST00000368413.1_3'UTR|ADAM15_ENST00000368412.3_3'UTR|EFNA4_ENST00000359751.4_5'Flank|ADAM15_ENST00000472434.1_3'UTR|EFNA3_ENST00000556931.1_5'Flank|EFNA4_ENST00000368409.3_5'Flank|ADAM15_ENST00000531455.1_3'UTR|EFNA3_ENST00000505139.1_5'Flank|ADAM15_ENST00000271836.6_3'UTR	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15						angiogenesis (GO:0001525)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of receptor binding (GO:1900121)|protein kinase C signaling (GO:0070528)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			CTGACCTCTCCGGAGGTTCCG	0.632											OREG0013848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													26.0	25.0	26.0					1																	155034985		2203	4300	6503	SO:0001624	3_prime_UTR_variant	0			U46005	CCDS1084.1, CCDS1085.1, CCDS1086.1, CCDS1087.1, CCDS1088.1, CCDS44236.1, CCDS58031.1, CCDS58032.1, CCDS60282.1	1q21.3	2008-02-05	2007-06-04		ENSG00000143537	ENSG00000143537		"""ADAM metallopeptidase domain containing"""	193	protein-coding gene	gene with protein product	"""metargidin"""	605548	"""a disintegrin and metalloproteinase domain 15 (metargidin)"""			9516430	Standard	NM_003815		Approved	MDC15	uc001fgr.2	Q13444	OTTHUMG00000013898	ENST00000356955.2:c.*7C>A	1.37:g.155034985C>A		1767	B3KQU5|B4DLB5|B4DMH8|E9PN65|Q13493|Q53XQ0|Q5SR68|Q5SR69|Q6R267|Q71S61|Q71S62|Q71S63|Q71S64|Q71S65|Q71S66|Q71S67|Q71S68|Q71S69|Q96C78|U3KQL5	RNA	SNP	-	NULL	ENST00000356955.2	37	NULL	CCDS1087.1	1																																																																																			ADAM15	-	-	ENSG00000143537		0.632	ADAM15-019	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADAM15	HGNC	protein_coding	OTTHUMT00000387168.1	-	0.00	30	0	C	NM_003815		155034985	+1	tier1	-	no_errors	ENST00000461234	ensembl	human	known	74_37	rna	12.12	29	4	SNP	0.331	A
ADAM6	8755	genome.wustl.edu	37	14	106436671	106436671	+	lincRNA	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr14:106436671G>T	ENST00000452053.1	-	0	989					NR_002224.2				ADAM metallopeptidase domain 6, pseudogene																		AGCAGACCTCGGGAGCATCCT	0.473																																																	0																																												0			AI024595		14q32.33	2013-09-05	2012-08-22		ENSG00000233988	ENSG00000271968		"""ADAM metallopeptidase domain containing"""	213	pseudogene	pseudogene			"""chromosome 14 open reading frame 96"", ""a disintegrin and metalloproteinase domain 6"", ""ADAM metallopeptidase domain 6"""	C14orf96			Standard	NR_002224		Approved	tMDCIV	uc001ysu.1		OTTHUMG00000152319		14.37:g.106436671G>T				RNA	SNP	-	NULL	ENST00000452053.1	37	NULL		14																																																																																			ADAM6	-	-	ENSG00000233988		0.473	ADAM6-001	KNOWN	basic	lincRNA	ADAM6	HGNC	lincRNA	OTTHUMT00000325881.1	-	0.00	26	0	G	NR_002224		106436671	-1	tier1	-	no_errors	ENST00000452053	ensembl	human	known	74_37	rna	26.92	19	7	SNP	0.000	T
ADCK5	203054	genome.wustl.edu	37	8	145616376	145616376	+	Nonsense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr8:145616376G>T	ENST00000308860.6	+	6	630	c.586G>T	c.(586-588)Gag>Tag	p.E196*	MIR939_ENST00000401314.1_RNA|ADCK5_ENST00000526231.2_3'UTR|CPSF1_ENST00000531727.1_5'Flank	NM_174922.3	NP_777582.4	Q3MIX3	ADCK5_HUMAN	aarF domain containing kinase 5	196	Protein kinase.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CCTCCCCCACGAGCTCTTCCA	0.627																																																	0													62.0	61.0	61.0					8																	145616376		2203	4300	6503	SO:0001587	stop_gained	0			BC032402	CCDS34965.1, CCDS34965.2	8q24.3	2004-07-06			ENSG00000173137	ENSG00000173137			21738	protein-coding gene	gene with protein product							Standard	NM_174922		Approved	FLJ35454	uc003zch.3	Q3MIX3	OTTHUMG00000165190	ENST00000308860.6:c.586G>T	8.37:g.145616376G>T	ENSP00000310547:p.Glu196*		B3KS46|Q5U4P1|Q6P2S4|Q8N5V3	Nonsense_Mutation	SNP	pfam_UbiB_dom,superfamily_Kinase-like_dom	p.E196*	ENST00000308860.6	37	c.586	CCDS34965.1	8	.	.	.	.	.	.	.	.	.	.	G	15.83	2.949503	0.53186	.	.	ENSG00000173137	ENST00000308860	.	.	.	5.19	0.405	0.16361	.	0.402501	0.25208	N	0.032330	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-25.5086	1.7352	0.02940	0.1657:0.1552:0.5215:0.1576	.	.	.	.	X	196	.	ENSP00000310547:E196X	E	+	1	0	ADCK5	145587184	0.001000	0.12720	0.174000	0.22961	0.970000	0.65996	-0.028000	0.12350	0.049000	0.15920	0.462000	0.41574	GAG	ADCK5	-	pfam_UbiB_dom,superfamily_Kinase-like_dom	ENSG00000173137		0.627	ADCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCK5	HGNC	protein_coding	OTTHUMT00000382556.2	-	0.00	53	0	G	NM_174922		145616376	+1	tier1	-	no_errors	ENST00000308860	ensembl	human	known	74_37	nonsense	11.86	52	7	SNP	0.099	T
ADORA2A	135	genome.wustl.edu	37	22	24827000	24827000	+	Intron	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr22:24827000G>T	ENST00000337539.7	+	2	185				SPECC1L-ADORA2A_ENST00000358654.2_Intron|ADORA2A-AS1_ENST00000326341.4_RNA|ADORA2A_ENST00000496497.1_Intron|ADORA2A-AS1_ENST00000543438.1_RNA	NM_000675.4|NM_001278497.1|NM_001278498.1|NM_001278499.1|NM_001278500.1	NP_000666.2|NP_001265426.1|NP_001265427.1|NP_001265428.1|NP_001265429.1	P29274	AA2AR_HUMAN	adenosine A2a receptor						activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|apoptotic process (GO:0006915)|blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cAMP biosynthetic process (GO:0006171)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|central nervous system development (GO:0007417)|inflammatory response (GO:0006954)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phagocytosis (GO:0006909)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|sensory perception (GO:0007600)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|G-protein coupled adenosine receptor activity (GO:0001609)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|skin(1)	21	Colorectal(2;0.196)				Adenosine(DB00640)|Caffeine(DB00201)|Defibrotide(DB04932)|Dyphylline(DB00651)|Enprofylline(DB00824)|Mefloquine(DB00358)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Regadenoson(DB06213)|Theobromine(DB01412)|Theophylline(DB00277)	TGAGTCAGGTGGGCCCTGGTG	0.632																																																	0																																										SO:0001627	intron_variant	0			X68486	CCDS13826.1	22q11.23	2012-08-08			ENSG00000128271	ENSG00000128271		"""GPCR / Class A : Adenosine receptors"""	263	protein-coding gene	gene with protein product		102776		ADORA2		1662665, 2541503	Standard	NM_001278497		Approved	RDC8	uc002zzy.4	P29274	OTTHUMG00000150761	ENST00000337539.7:c.-274-2099G>T	22.37:g.24827000G>T			B2R7E0	RNA	SNP	-	NULL	ENST00000337539.7	37	NULL	CCDS13826.1	22																																																																																			ADORA2A-AS1	-	-	ENSG00000178803		0.632	ADORA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADORA2A-AS1	HGNC	protein_coding	OTTHUMT00000319971.2	-	0.00	61	0	G	NM_000675		24827000	-1	tier1	-	no_errors	ENST00000326341	ensembl	human	known	74_37	rna	15.79	16	3	SNP	0.000	T
AGAP1	116987	genome.wustl.edu	37	2	236706515	236706515	+	Silent	SNP	C	C	T	rs137978600		TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr2:236706515C>T	ENST00000304032.8	+	7	1366	c.786C>T	c.(784-786)gcC>gcT	p.A262A	AGAP1_ENST00000409457.1_Silent_p.A262A|AGAP1_ENST00000428334.2_Silent_p.A101A|AGAP1_ENST00000409538.1_Silent_p.A527A|AGAP1_ENST00000336665.5_Silent_p.A262A	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	262	Small GTPase-like.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|phospholipid binding (GO:0005543)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						AGGTGTCTGCCGTGCACATCA	0.498																																																	0								T	,	0,4406		0,0,2203	175.0	169.0	171.0		786,786	-7.4	0.1	2	dbSNP_134	171	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	AGAP1	NM_001037131.2,NM_014914.4	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	262/858,262/805	236706515	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AF413078	CCDS2514.1, CCDS33408.1, CCDS58756.1	2q37	2013-01-10	2008-09-22	2008-09-22	ENSG00000157985	ENSG00000157985		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16922	protein-coding gene	gene with protein product		608651	"""centaurin, gamma 2"""	CENTG2			Standard	NM_001037131		Approved	KIAA1099, GGAP1	uc002vvs.3	Q9UPQ3	OTTHUMG00000133293	ENST00000304032.8:c.786C>T	2.37:g.236706515C>T			B2RTX7|Q541S5|Q6P9D7|Q9NV93	Silent	SNP	pfam_ArfGAP,pfam_MIRO-like,pfam_Small_GTPase,pfam_Ankyrin_rpt,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP,prints_Small_GTPase	p.A262	ENST00000304032.8	37	c.786	CCDS33408.1	2																																																																																			AGAP1	-	NULL	ENSG00000157985		0.498	AGAP1-001	KNOWN	basic|CCDS	protein_coding	AGAP1	HGNC	protein_coding	OTTHUMT00000257076.2	-	0.00	86	0	C	NM_014914		236706515	+1	tier1	rs137978600	no_errors	ENST00000304032	ensembl	human	known	74_37	silent	40.26	44	31	SNP	0.002	T
AKR7L	246181	genome.wustl.edu	37	1	19597012	19597012	+	RNA	SNP	G	G	T	rs76741883		TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr1:19597012G>T	ENST00000429712.1	-	0	559				AKR7L_ENST00000420396.2_RNA			Q8NHP1	ARK74_HUMAN	aldo-keto reductase family 7-like							extracellular vesicular exosome (GO:0070062)	oxidoreductase activity (GO:0016491)	p.P35A(1)		breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6						CACTTCCCAGGCGGCATAGTT	0.622																																																	1	Substitution - Missense(1)	prostate(1)											65.0	62.0	63.0					1																	19597012		2203	4300	6503			0					1p36.1-p35	2008-12-09			ENSG00000211454	ENSG00000211454			24056	protein-coding gene	gene with protein product		608478				12879023	Standard	NR_040288		Approved	AFAR3	uc021ohn.1	Q8NHP1	OTTHUMG00000002520		1.37:g.19597012G>T			Q5U614	Missense_Mutation	SNP	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom	p.P35T	ENST00000429712.1	37	c.103		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.92|10.92	1.485955|1.485955	0.26686|0.26686	.|.	.|.	ENSG00000211454|ENSG00000211454	ENST00000429712|ENST00000420396;ENST00000457194	.|T	.|0.29142	.|1.58	4.08|4.08	3.17|3.17	0.36434|0.36434	NADP-dependent oxidoreductase domain (3);|.	0.245467|.	0.41605|.	D|.	0.000847|.	T|T	0.12263|0.12263	0.0298|0.0298	.|.	.|.	.|.	0.23879|0.23879	N|N	0.99659|0.99659	D|.	0.64830|.	0.994|.	D|.	0.80764|.	0.994|.	T|T	0.17899|0.17899	-1.0354|-1.0354	8|6	0.87932|0.02654	D|T	0|1	.|.	10.819|10.819	0.46593|0.46593	0.095:0.0:0.905:0.0|0.095:0.0:0.905:0.0	.|.	147|.	Q8NHP1|.	ARK74_HUMAN|.	D|T	147|35;103	.|ENSP00000406430:P35T	ENSP00000411913:A147D|ENSP00000406430:P35T	A|P	-|-	2|1	0|0	AKR7L|AKR7L	19469599|19469599	1.000000|1.000000	0.71417|0.71417	0.782000|0.782000	0.31804|0.31804	0.038000|0.038000	0.13279|0.13279	8.881000|8.881000	0.92415|0.92415	1.071000|1.071000	0.40834|0.40834	-0.259000|-0.259000	0.10710|0.10710	GCC|CCT	AKR7L	-	NULL	ENSG00000211454		0.622	AKR7L-001	KNOWN	basic	polymorphic_pseudogene	AKR7L	HGNC	polymorphic_pseudogene	OTTHUMT00000007163.3		0.00	180	0	G	NM_201252		19597012	-1			no_errors	ENST00000420396	ensembl	human	known	74_37	missense	5.45	52	3	SNP	0.977	T
ALDH7A1	501	genome.wustl.edu	37	5	125885971	125885971	+	Silent	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr5:125885971G>T	ENST00000409134.3	-	15	1551	c.1332C>A	c.(1330-1332)gtC>gtA	p.V444V	ALDH7A1_ENST00000447989.2_Silent_p.V407V|ALDH7A1_ENST00000553117.1_Silent_p.V380V	NM_001182.4|NM_001201377.1	NP_001173.2|NP_001188306.1	P49419	AL7A1_HUMAN	aldehyde dehydrogenase 7 family, member A1	444					cellular aldehyde metabolic process (GO:0006081)|cellular nitrogen compound metabolic process (GO:0034641)|glycine betaine biosynthetic process from choline (GO:0019285)|lysine catabolic process (GO:0006554)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|betaine-aldehyde dehydrogenase activity (GO:0008802)|L-aminoadipate-semialdehyde dehydrogenase activity (GO:0004043)			endometrium(1)|kidney(4)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.24)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109)		TCCATGCAAAGACCTCTTCTT	0.378																																																	0													93.0	90.0	91.0					5																	125885971		2203	4300	6503	SO:0001819	synonymous_variant	0			S74728	CCDS4137.2, CCDS56380.1	5q31	2013-06-03			ENSG00000164904	ENSG00000164904	1.2.1.31	"""Aldehyde dehydrogenases"""	877	protein-coding gene	gene with protein product	"""antiquitin 1"", ""26g turgor protein homolog"", ""alpha-aminoadipic semialdehyde dehydrogenase"", ""alpha-AASA dehydrogenase"", ""delta1-piperideine-6-carboxylate dehydrogenease"", ""P6c dehydrogenase"""	107323		ATQ1		9417906	Standard	NM_001182		Approved	EPD, PDE	uc003ktx.3	P49419	OTTHUMG00000128942	ENST00000409134.3:c.1332C>A	5.37:g.125885971G>T			B2R669|B4DIC7|B4DMA0|E7EPT3|O14619|Q6IPU8|Q9BUL4	Silent	SNP	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	p.V444	ENST00000409134.3	37	c.1332	CCDS4137.2	5																																																																																			ALDH7A1	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	ENSG00000164904		0.378	ALDH7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH7A1	HGNC	protein_coding	OTTHUMT00000250921.2		0.00	18	0	G	NM_001182		125885971	-1			no_errors	ENST00000409134	ensembl	human	known	74_37	silent	7.14	52	4	SNP	1.000	T
ANGPT1	284	genome.wustl.edu	37	8	108264090	108264090	+	Missense_Mutation	SNP	T	T	A			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr8:108264090T>A	ENST00000520734.1	-	8	1175	c.890A>T	c.(889-891)gAt>gTt	p.D297V	ANGPT1_ENST00000520052.1_Missense_Mutation_p.D296V|AP000428.1_ENST00000390706.1_RNA|ANGPT1_ENST00000518386.1_5'UTR			Q15389	ANGP1_HUMAN	angiopoietin 1	497	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell-substrate adhesion (GO:0031589)|glomerulus vasculature development (GO:0072012)|hemopoiesis (GO:0030097)|heparin biosynthetic process (GO:0030210)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of vascular permeability (GO:0043116)|positive chemotaxis (GO:0050918)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|protein localization to cell surface (GO:0034394)|regulation of satellite cell proliferation (GO:0014842)|sprouting angiogenesis (GO:0002040)|Tie signaling pathway (GO:0048014)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			CTTTCAAAAATCTAAAGGTCG	0.418																																																	0													133.0	125.0	128.0					8																	108264090		2203	4300	6503	SO:0001583	missense	0			D13628	CCDS6306.1, CCDS56551.1	8q23.1	2013-02-06			ENSG00000154188	ENSG00000154188		"""Fibrinogen C domain containing"""	484	protein-coding gene	gene with protein product		601667				9545648	Standard	NM_001146		Approved	KIAA0003, Ang1	uc003ymn.3	Q15389	OTTHUMG00000164812	ENST00000520734.1:c.890A>T	8.37:g.108264090T>A	ENSP00000430750:p.Asp297Val		Q5HYA0	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	p.D497V	ENST00000520734.1	37	c.1490		8	.	.	.	.	.	.	.	.	.	.	T	25.8	4.671698	0.88348	.	.	ENSG00000154188	ENST00000517746;ENST00000297450;ENST00000520734;ENST00000520052	T;T;T;T	0.58652	0.32;0.37;0.45;0.44	5.9	5.9	0.94986	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (2);	0.040814	0.85682	D	0.000000	T	0.76378	0.3979	M	0.84585	2.705	0.80722	D	1	P;P	0.43477	0.808;0.808	P;P	0.56088	0.791;0.791	T	0.79911	-0.1603	10	0.87932	D	0	.	16.3275	0.82990	0.0:0.0:0.0:1.0	.	497;497	Q5HYA0;Q15389	.;ANGP1_HUMAN	V	497;496;297;296	ENSP00000428340:D497V;ENSP00000297450:D496V;ENSP00000430750:D297V;ENSP00000429349:D296V	ENSP00000297450:D496V	D	-	2	0	ANGPT1	108333266	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	8.040000	0.89188	2.266000	0.75297	0.528000	0.53228	GAT	ANGPT1	-	superfamily_Fibrinogen_a/b/g_C_dom	ENSG00000154188		0.418	ANGPT1-002	PUTATIVE	alternative_5_UTR|basic	protein_coding	ANGPT1	HGNC	protein_coding	OTTHUMT00000380428.2	-	0.00	19	0	T	NM_001146, NM_139290		108264090	-1	tier1	-	no_errors	ENST00000517746	ensembl	human	known	74_37	missense	19.61	82	20	SNP	1.000	A
ANKLE2	23141	genome.wustl.edu	37	12	133306803	133306803	+	Nonsense_Mutation	SNP	C	C	A			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr12:133306803C>A	ENST00000357997.5	-	11	2034	c.1945G>T	c.(1945-1947)Gaa>Taa	p.E649*	ANKLE2_ENST00000542657.1_Nonsense_Mutation_p.E4*|ANKLE2_ENST00000539605.1_Nonsense_Mutation_p.E587*|ANKLE2_ENST00000542374.1_Intron|ANKLE2_ENST00000542282.1_Nonsense_Mutation_p.E4*	NM_015114.1	NP_055929.1	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	649					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|negative regulation of phosphorylation (GO:0042326)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601)			NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		TTTATTTCTTCCAAGCTCATG	0.507																																																	0													38.0	42.0	40.0					12																	133306803		1905	4106	6011	SO:0001587	stop_gained	0			AB014592	CCDS41869.1	12q24.33	2013-01-11	2008-03-25	2008-03-25	ENSG00000176915	ENSG00000176915		"""Ankyrin repeat domain containing"""	29101	protein-coding gene	gene with protein product	"""LEM domain containing 7"""		"""KIAA0692"""	KIAA0692		9734811	Standard	XM_005266159		Approved	LEMD7, Lem4	uc001ukx.2	Q86XL3	OTTHUMG00000168046	ENST00000357997.5:c.1945G>T	12.37:g.133306803C>A	ENSP00000350686:p.Glu649*		A8KAG3|B3KN97|B3KSF8|O75176|Q6P6A5|Q8TAZ9|Q96DH4	Nonsense_Mutation	SNP	pfam_LEM_dom,superfamily_LEM/LEM-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Ribosomal_L9/RNase_H1_N,pfscan_LEM_dom	p.E649*	ENST00000357997.5	37	c.1945	CCDS41869.1	12	.	.	.	.	.	.	.	.	.	.	c	52	18.731843	0.99909	.	.	ENSG00000176915	ENST00000539605;ENST00000357997;ENST00000542282;ENST00000542657;ENST00000538766	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-9.7123	20.3324	0.98724	0.0:1.0:0.0:0.0	.	.	.	.	X	587;649;4;4;4	.	ENSP00000350686:E649X	E	-	1	0	ANKLE2	131816876	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	6.966000	0.76073	2.880000	0.98712	0.651000	0.88453	GAA	ANKLE2	-	NULL	ENSG00000176915		0.507	ANKLE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKLE2	HGNC	protein_coding	OTTHUMT00000397712.1	-	0.00	61	0	C			133306803	-1	tier1	-	no_errors	ENST00000357997	ensembl	human	known	74_37	nonsense	10.00	36	4	SNP	1.000	A
RNF13	11342	genome.wustl.edu	37	3	149563810	149563810	+	5'UTR	SNP	C	C	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr3:149563810C>T	ENST00000344229.3	+	0	699				RNF13_ENST00000392894.3_5'UTR|ANKUB1_ENST00000473672.1_5'UTR	NM_007282.4	NP_009213.1	O43567	RNF13_HUMAN	ring finger protein 13						protein autoubiquitination (GO:0051865)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	11		all_neural(597;0.0138)|Myeloproliferative disorder(1037;0.0255)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GATTTTACAACGAGATGCTGC	0.438																																																	0													98.0	89.0	92.0					3																	149563810		2203	4300	6503	SO:0001623	5_prime_UTR_variant	0			AF037204	CCDS3146.1	3q25.1	2013-01-09			ENSG00000082996	ENSG00000082996		"""RING-type (C3HC4) zinc fingers"""	10057	protein-coding gene	gene with protein product		609247					Standard	NM_183381		Approved	RZF	uc003exp.4	O43567	OTTHUMG00000150338	ENST00000344229.3:c.-4C>T	3.37:g.149563810C>T			A6NC87|B3KR12|Q05D66|Q6IBJ9	RNA	SNP	-	NULL	ENST00000344229.3	37	NULL	CCDS3146.1	3																																																																																			ANKUB1	-	-	ENSG00000206199		0.438	RNF13-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ANKUB1	HGNC	protein_coding	OTTHUMT00000356876.1	-	0.00	9	0	C	NM_183384		149563810	-1	tier1	-	no_errors	ENST00000481585	ensembl	human	known	74_37	rna	28.57	25	10	SNP	0.028	T
ANO1	55107	genome.wustl.edu	37	11	70031758	70031758	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr11:70031758G>T	ENST00000355303.5	+	25	2956	c.2651G>T	c.(2650-2652)tGg>tTg	p.W884L	ANO1_ENST00000525494.1_3'UTR|ANO1-AS1_ENST00000524987.1_RNA|ANO1_ENST00000531349.1_Missense_Mutation_p.W593L|ANO1_ENST00000538023.1_Missense_Mutation_p.W884L|ANO1_ENST00000530676.1_Missense_Mutation_p.W738L|ANO1_ENST00000398543.2_Missense_Mutation_p.W738L	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	884					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of membrane potential (GO:0042391)|trachea development (GO:0060438)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29					Crofelemer(DB04941)	AAGGACTTCTGGGCCGTCCTG	0.572																																																	0													101.0	113.0	109.0					11																	70031758		1949	4138	6087	SO:0001583	missense	0			BC033036	CCDS44663.1	11q13.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000131620	ENSG00000131620		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	21625	protein-coding gene	gene with protein product		610108	"""oral cancer overexpressed 2"", ""transmembrane protein 16A"""	ORAOV2, TMEM16A		15067359, 18724360, 24692353	Standard	NM_018043		Approved	TAOS2, FLJ10261, DOG1	uc001opj.3	Q5XXA6	OTTHUMG00000167204	ENST00000355303.5:c.2651G>T	11.37:g.70031758G>T	ENSP00000347454:p.Trp884Leu		A8KAM3|Q8IYY8|Q8N7V3	Missense_Mutation	SNP	pfam_Anoctamin	p.W884L	ENST00000355303.5	37	c.2651	CCDS44663.1	11	.	.	.	.	.	.	.	.	.	.	G	33	5.245738	0.95272	.	.	ENSG00000131620	ENST00000355303;ENST00000538023;ENST00000398543;ENST00000546327;ENST00000530676;ENST00000531349;ENST00000539321	T;D;D;D;T	0.83591	-1.44;-1.52;-1.74;-1.74;-1.36	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.94125	0.8116	H	0.95712	3.71	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.95698	0.8746	9	.	.	.	.	18.891	0.92403	0.0:0.0:1.0:0.0	.	593;884	E9PNA7;Q5XXA6	.;ANO1_HUMAN	L	884;884;738;642;738;593;211	ENSP00000347454:W884L;ENSP00000444689:W884L;ENSP00000381551:W738L;ENSP00000435797:W738L;ENSP00000432843:W593L	.	W	+	2	0	ANO1	69709406	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.989000	0.93506	2.460000	0.83146	0.655000	0.94253	TGG	ANO1	-	pfam_Anoctamin	ENSG00000131620		0.572	ANO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANO1	HGNC	protein_coding	OTTHUMT00000393685.1		0.00	133	0	G	NM_018043		70031758	+1			no_errors	ENST00000355303	ensembl	human	known	74_37	missense	5.06	75	4	SNP	1.000	T
ARHGAP23	57636	genome.wustl.edu	37	17	36633839	36633839	+	Missense_Mutation	SNP	G	G	A			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr17:36633839G>A	ENST00000431231.2	+	12	2206	c.2138G>A	c.(2137-2139)cGc>cAc	p.R713H	ARHGAP23_ENST00000443378.1_Missense_Mutation_p.R619H|ARHGAP23_ENST00000437668.3_Missense_Mutation_p.R713H	NM_001199417.1	NP_001186346.1	Q9P227	RHG23_HUMAN	Rho GTPase activating protein 23	713	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	GTPase activator activity (GO:0005096)			breast(2)|endometrium(8)|kidney(6)|lung(1)|skin(1)|stomach(2)	20						AGCGGCCTGCGCCAGTGGAAG	0.721																																																	0													2.0	2.0	2.0					17																	36633839		597	1390	1987	SO:0001583	missense	0			AB040934	CCDS56027.1	17q12	2014-05-06			ENSG00000225485	ENSG00000275832		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	29293	protein-coding gene	gene with protein product		610590				10819331, 15254754	Standard	NM_001199417		Approved	KIAA1501	uc021twd.1	Q9P227	OTTHUMG00000188547	ENST00000431231.2:c.2138G>A	17.37:g.36633839G>A	ENSP00000393539:p.Arg713His			Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_PDZ,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom	p.R713H	ENST00000431231.2	37	c.2138	CCDS56027.1	17	.	.	.	.	.	.	.	.	.	.	g	12.72	2.021241	0.35701	.	.	ENSG00000225485	ENST00000437668;ENST00000431231;ENST00000443378	T;T;T	0.80653	-1.4;-1.4;-1.4	3.16	2.18	0.27775	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.248135	0.34484	N	0.003934	D	0.87904	0.6295	M	0.84948	2.725	0.33885	D	0.636613	D;D	0.63880	0.993;0.97	D;P	0.65773	0.938;0.707	D	0.89882	0.4031	10	0.66056	D	0.02	.	9.1098	0.36720	0.1149:0.0:0.8851:0.0	.	713;713	Q9P227;Q9P227-2	RHG23_HUMAN;.	H	713;713;619	ENSP00000394153:R713H;ENSP00000393539:R713H;ENSP00000407333:R619H	ENSP00000393539:R713H	R	+	2	0	ARHGAP23	33887365	1.000000	0.71417	1.000000	0.80357	0.330000	0.28571	8.722000	0.91452	0.548000	0.28955	-0.494000	0.04653	CGC	ARHGAP23	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000225485		0.721	ARHGAP23-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP23	HGNC	protein_coding	OTTHUMT00000441789.1	-	0.00	208	0	G	XM_290799		36633839	+1	tier1	-	no_errors	ENST00000431231	ensembl	human	known	74_37	missense	33.98	68	35	SNP	1.000	A
ARHGEF7	8874	genome.wustl.edu	37	13	111927998	111927998	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr13:111927998G>T	ENST00000375741.2	+	13	1705	c.1455G>T	c.(1453-1455)caG>caT	p.Q485H	ARHGEF7_ENST00000544132.1_Missense_Mutation_p.Q141H|ARHGEF7_ENST00000375736.4_Missense_Mutation_p.Q307H|ARHGEF7_ENST00000478679.1_Missense_Mutation_p.Q229H|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.Q382H|ARHGEF7_ENST00000218789.5_Missense_Mutation_p.Q307H|ARHGEF7_ENST00000375723.1_Missense_Mutation_p.Q307H|ARHGEF7_ENST00000426073.2_Missense_Mutation_p.Q307H|ARHGEF7_ENST00000370623.3_Missense_Mutation_p.Q392H|ARHGEF7_ENST00000483189.1_3'UTR|ARHGEF7_ENST00000317133.5_Missense_Mutation_p.Q464H|ARHGEF7_ENST00000375739.2_Missense_Mutation_p.Q435H	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	485	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|hematopoietic progenitor cell differentiation (GO:0002244)|lamellipodium assembly (GO:0030032)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of GTPase activity (GO:0043547)|positive regulation of lamellipodium morphogenesis (GO:2000394)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase binding (GO:0019901)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.Q307Q(1)|p.Q464Q(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			ACATGTCCCAGGTCCTGATTC	0.527																																																	2	Substitution - coding silent(2)	lung(2)											191.0	158.0	169.0					13																	111927998		2203	4300	6503	SO:0001583	missense	0			D63476	CCDS9521.1, CCDS32009.1, CCDS45068.1, CCDS45069.1	13q33.3	2013-01-10			ENSG00000102606	ENSG00000102606		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	15607	protein-coding gene	gene with protein product	"""SH3 domain-containing proline-rich protein"", ""PAK-interacting exchange factor beta"", ""rho"", ""guanine nucleotide exchange factor 7"""	605477				9207241, 9726964	Standard	NM_003899		Approved	KIAA0142, PIXB, DKFZp761K1021, Nbla10314, DKFZp686C12170, BETA-PIX, COOL1, P85SPR, P85, P85COOL1, P50BP, PAK3, P50	uc001vrs.2	Q14155	OTTHUMG00000017357	ENST00000375741.2:c.1455G>T	13.37:g.111927998G>T	ENSP00000364893:p.Gln485His		B1ALK6|B1ALK8|Q3LIA4|Q5W9H0|Q6P9G3|Q6PII2|Q86W63|Q8N3M1	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_CH-domain,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain	p.Q485H	ENST00000375741.2	37	c.1455	CCDS45068.1	13	.	.	.	.	.	.	.	.	.	.	G	14.37	2.516294	0.44763	.	.	ENSG00000102606	ENST00000317133;ENST00000375741;ENST00000375739;ENST00000370623;ENST00000545635;ENST00000466143;ENST00000544132;ENST00000218789;ENST00000375736;ENST00000426073;ENST00000375737;ENST00000375723;ENST00000478679	T;T;T;T;T;T;T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97	5.25	3.49	0.39957	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.119788	0.64402	D	0.000017	T	0.48804	0.1520	M	0.83312	2.635	0.53688	D	0.999974	B;B;B;B;B;B	0.22683	0.001;0.073;0.002;0.0;0.002;0.001	B;B;B;B;B;B	0.32624	0.017;0.149;0.017;0.002;0.06;0.024	T	0.49418	-0.8942	10	0.59425	D	0.04	.	9.6055	0.39630	0.292:0.0:0.708:0.0	.	229;382;229;435;485;464	E9PDQ5;B7Z6G2;B7Z344;Q14155-2;Q14155;Q14155-3	.;.;.;.;ARHG7_HUMAN;.	H	464;485;435;392;462;307;141;307;307;307;382;307;229	ENSP00000325994:Q464H;ENSP00000364893:Q485H;ENSP00000364891:Q435H;ENSP00000359657:Q392H;ENSP00000418067:Q307H;ENSP00000445384:Q141H;ENSP00000218789:Q307H;ENSP00000364888:Q307H;ENSP00000397068:Q307H;ENSP00000364889:Q382H;ENSP00000364875:Q307H;ENSP00000417596:Q229H	ENSP00000218789:Q307H	Q	+	3	2	ARHGEF7	110725999	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.164000	0.31810	0.695000	0.31675	0.650000	0.86243	CAG	ARHGEF7	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000102606		0.527	ARHGEF7-204	KNOWN	basic|CCDS	protein_coding	ARHGEF7	HGNC	protein_coding			0.00	33	0	G	NM_001113511		111927998	+1			no_errors	ENST00000375741	ensembl	human	known	74_37	missense	5.56	34	2	SNP	1.000	T
ARMC2	84071	genome.wustl.edu	37	6	109175567	109175567	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr6:109175567G>T	ENST00000392644.4	+	2	265	c.97G>T	c.(97-99)Gca>Tca	p.A33S	ARMC2_ENST00000368972.3_5'UTR	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	33										endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		CATAAGTGAAGCAAGAAATGC	0.388																																																	0													111.0	93.0	99.0					6																	109175567		2203	4300	6503	SO:0001583	missense	0			BC030603	CCDS5069.2, CCDS69168.1	6q21	2013-02-14			ENSG00000118690	ENSG00000118690		"""Armadillo repeat containing"""	23045	protein-coding gene	gene with protein product							Standard	XM_005267154		Approved	DKFZp434P0714, bA787I22.1	uc003pss.4	Q8NEN0	OTTHUMG00000015335	ENST00000392644.4:c.97G>T	6.37:g.109175567G>T	ENSP00000376417:p.Ala33Ser		A8K8Y4|B4DGF5|G5E993|Q5VVY8|Q9H0K9	Missense_Mutation	SNP	superfamily_ARM-type_fold,smart_Armadillo	p.A33S	ENST00000392644.4	37	c.97	CCDS5069.2	6	.	.	.	.	.	.	.	.	.	.	G	22.9	4.346220	0.82022	.	.	ENSG00000118690	ENST00000392644;ENST00000237512	T;T	0.54071	0.59;0.59	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.70404	0.3220	M	0.78801	2.425	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.74041	-0.3792	10	0.87932	D	0	.	18.8762	0.92337	0.0:0.0:1.0:0.0	.	33	Q8NEN0	ARMC2_HUMAN	S	33	ENSP00000376417:A33S;ENSP00000237512:A33S	ENSP00000237512:A33S	A	+	1	0	ARMC2	109282260	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.280000	0.78610	2.621000	0.88768	0.563000	0.77884	GCA	ARMC2	-	NULL	ENSG00000118690		0.388	ARMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMC2	HGNC	protein_coding	OTTHUMT00000041732.2		0.00	13	0	G	NM_032131		109175567	+1			no_errors	ENST00000392644	ensembl	human	known	74_37	missense	5.56	34	2	SNP	1.000	T
ARVCF	421	genome.wustl.edu	37	22	19966574	19966574	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr22:19966574G>T	ENST00000263207.3	-	7	1717	c.1426C>A	c.(1426-1428)Ccc>Acc	p.P476T	ARVCF_ENST00000401994.1_Missense_Mutation_p.P413T|ARVCF_ENST00000487793.1_5'Flank|ARVCF_ENST00000406522.1_Missense_Mutation_p.P413T|ARVCF_ENST00000406259.1_Missense_Mutation_p.P476T|ARVCF_ENST00000344269.3_Missense_Mutation_p.P413T	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	476					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					ATCTTCAGGGGCTCATAGGAT	0.607																																																	0													141.0	105.0	117.0					22																	19966574		2202	4300	6502	SO:0001583	missense	0				CCDS13771.1	22q11.21	2013-02-14	2010-04-28		ENSG00000099889	ENSG00000099889		"""Armadillo repeat containing"""	728	protein-coding gene	gene with protein product		602269				9126485, 15456900	Standard	NM_001670		Approved		uc002zqz.3	O00192	OTTHUMG00000030426	ENST00000263207.3:c.1426C>A	22.37:g.19966574G>T	ENSP00000263207:p.Pro476Thr		B7WNV2	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.P476T	ENST00000263207.3	37	c.1426	CCDS13771.1	22	.	.	.	.	.	.	.	.	.	.	G	24.5	4.543574	0.86022	.	.	ENSG00000099889	ENST00000263207;ENST00000344269;ENST00000401994;ENST00000406522;ENST00000406259	T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82	4.56	4.56	0.56223	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.55210	0.1906	L	0.39898	1.24	0.80722	D	1	P	0.51537	0.946	P	0.57101	0.813	T	0.50988	-0.8762	9	.	.	.	-18.9937	17.9007	0.88902	0.0:0.0:1.0:0.0	.	476	O00192	ARVC_HUMAN	T	476;413;413;413;476	ENSP00000263207:P476T;ENSP00000342042:P413T;ENSP00000384341:P413T;ENSP00000384732:P413T;ENSP00000385444:P476T	.	P	-	1	0	ARVCF	18346574	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	4.407000	0.59754	2.541000	0.85698	0.655000	0.94253	CCC	ARVCF	-	superfamily_ARM-type_fold,pfscan_Armadillo	ENSG00000099889		0.607	ARVCF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARVCF	HGNC	protein_coding	OTTHUMT00000075314.5	-	0.00	54	0	G	NM_001670		19966574	-1	tier1	-	no_errors	ENST00000263207	ensembl	human	known	74_37	missense	17.65	14	3	SNP	1.000	T
ATF7IP	55729	genome.wustl.edu	37	12	14518656	14518656	+	5'UTR	SNP	G	G	C			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr12:14518656G>C	ENST00000261168.4	+	0	41				RPL30P11_ENST00000509114.2_RNA|ATF7IP_ENST00000536444.1_5'Flank|ATF7IP_ENST00000543189.1_5'UTR	NM_018179.3	NP_060649.3	Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein						DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)				cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						gcggcgcggcgACTGAAGCGC	0.662																																																	0																																										SO:0001623	5_prime_UTR_variant	0			AJ242978	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	12p13.1	2005-11-18				ENSG00000171681			20092	protein-coding gene	gene with protein product		613644				10976766, 10777215	Standard	XM_005253424		Approved	FLJ10688, p621	uc001rbw.3	Q6VMQ6		ENST00000261168.4:c.-113G>C	12.37:g.14518656G>C			F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	RNA	SNP	-	NULL	ENST00000261168.4	37	NULL	CCDS8663.1	12																																																																																			ATF7IP	-	-	ENSG00000171681		0.662	ATF7IP-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATF7IP	HGNC	protein_coding		-	0.00	95	0	G	NM_018179		14518656	+1	tier1	-	no_errors	ENST00000539659	ensembl	human	known	74_37	rna	22.50	31	9	SNP	0.936	C
ATF7	11016	genome.wustl.edu	37	12	53918509	53918509	+	Nonsense_Mutation	SNP	G	G	A			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr12:53918509G>A	ENST00000548446.2	-	10	1109	c.997C>T	c.(997-999)Cga>Tga	p.R333*	ATF7_ENST00000456903.4_Nonsense_Mutation_p.R322*|ATF7_ENST00000420353.2_Nonsense_Mutation_p.R322*|ATF7_ENST00000328463.7_Nonsense_Mutation_p.R333*|RP11-793H13.10_ENST00000591834.1_Nonsense_Mutation_p.R322*|ATF7_ENST00000415113.1_Nonsense_Mutation_p.R301*|ATF7_ENST00000546661.1_5'UTR			P17544	ATF7_HUMAN	activating transcription factor 7	333					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|mitogen-activated protein kinase binding (GO:0051019)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9					Pseudoephedrine(DB00852)	CGCCGCCGTCGCCCCCCAGTA	0.592																																																	0													16.0	17.0	17.0					12																	53918509		1925	4137	6062	SO:0001587	stop_gained	0			X52943	CCDS44906.1, CCDS58238.1	12q13	2013-01-10				ENSG00000170653		"""basic leucine zipper proteins"""	792	protein-coding gene	gene with protein product		606371				1694576, 11278933	Standard	NM_006856		Approved	ATFA	uc001sdz.3	P17544	OTTHUMG00000169776	ENST00000548446.2:c.997C>T	12.37:g.53918509G>A	ENSP00000449938:p.Arg333*		A5D6Y4|B2RMP1|B4DQL4|Q13814|Q8IVR8|Q9UD83	Nonsense_Mutation	SNP	pfam_bZIP,smart_Znf_C2H2-like,smart_bZIP,pirsf_TF_cAMP-dep,pfscan_Znf_C2H2,pfscan_bZIP	p.R333*	ENST00000548446.2	37	c.997		12	.	.	.	.	.	.	.	.	.	.	G	38	6.832056	0.97873	.	.	ENSG00000170653	ENST00000548446;ENST00000328463;ENST00000306727;ENST00000415113;ENST00000420353;ENST00000456903	.	.	.	5.32	2.43	0.29744	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-28.9661	14.1146	0.65144	0.0:0.0:0.4436:0.5564	.	.	.	.	X	333;333;146;301;322;322	.	ENSP00000304187:R146X	R	-	1	2	ATF7	52204776	0.953000	0.32496	0.022000	0.16811	0.936000	0.57629	1.517000	0.35867	0.445000	0.26639	-0.127000	0.14921	CGA	ATF7	-	pirsf_TF_cAMP-dep	ENSG00000170653		0.592	ATF7-007	KNOWN	NMD_exception|basic|appris_candidate_longest	protein_coding	ATF7	HGNC	protein_coding	OTTHUMT00000406302.2	-	0.00	85	0	G	NM_001130059		53918509	-1	tier1	-	no_errors	ENST00000328463	ensembl	human	known	74_37	nonsense	64.00	17	32	SNP	0.904	A
ATL3	25923	genome.wustl.edu	37	11	63426674	63426674	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr11:63426674G>T	ENST00000398868.3	-	2	373	c.97C>A	c.(97-99)Cag>Aag	p.Q33K	ATL3_ENST00000332645.4_Intron|RP11-697H9.2_ENST00000540307.1_RNA|ATL3_ENST00000538786.1_Missense_Mutation_p.Q15K|ATL3_ENST00000535789.1_5'UTR	NM_015459.3	NP_056274.3	Q6DD88	ATLA3_HUMAN	atlastin GTPase 3	33					endoplasmic reticulum organization (GO:0007029)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	11						TGATCTTTCTGAACCAAAACA	0.438																																																	0													86.0	85.0	85.0					11																	63426674		1958	4168	6126	SO:0001583	missense	0				CCDS41663.1, CCDS73309.1	11q13.1	2008-09-17			ENSG00000184743	ENSG00000184743			24526	protein-coding gene	gene with protein product		609369				18270207	Standard	XM_005273891		Approved	DKFZP564J0863	uc001nxk.1	Q6DD88	OTTHUMG00000167854	ENST00000398868.3:c.97C>A	11.37:g.63426674G>T	ENSP00000381844:p.Gln33Lys		Q8N7W5|Q9H8Q5|Q9UFL1	Missense_Mutation	SNP	pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_P-loop_NTPase,superfamily_Guanylate-bd_C	p.Q33K	ENST00000398868.3	37	c.97	CCDS41663.1	11	.	.	.	.	.	.	.	.	.	.	G	7.627	0.678121	0.14841	.	.	ENSG00000184743	ENST00000398868;ENST00000538786;ENST00000540699	T;T;T	0.60672	0.17;0.17;0.17	5.82	4.88	0.63580	.	.	.	.	.	T	0.35278	0.0926	N	0.08118	0	0.80722	D	1	P;B	0.38370	0.628;0.0	B;B	0.33254	0.16;0.0	T	0.31052	-0.9957	9	0.35671	T	0.21	.	14.1531	0.65401	0.0:0.0:0.8501:0.1499	.	85;33	F5GWF8;Q6DD88	.;ATLA3_HUMAN	K	33;15;85	ENSP00000381844:Q33K;ENSP00000437593:Q15K;ENSP00000441842:Q85K	ENSP00000381844:Q33K	Q	-	1	0	ATL3	63183250	1.000000	0.71417	0.998000	0.56505	0.971000	0.66376	3.103000	0.50298	2.739000	0.93911	0.655000	0.94253	CAG	ATL3	-	superfamily_P-loop_NTPase	ENSG00000184743		0.438	ATL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATL3	HGNC	protein_coding	OTTHUMT00000396637.1		0.00	20	0	G	NM_015459		63426674	-1			no_errors	ENST00000398868	ensembl	human	known	74_37	missense	8.70	42	4	SNP	0.959	T
BAI3	577	genome.wustl.edu	37	6	70098745	70098745	+	Missense_Mutation	SNP	C	C	A			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr6:70098745C>A	ENST00000370598.1	+	32	5352	c.4531C>A	c.(4531-4533)Ctg>Atg	p.L1511M	BAI3_ENST00000238918.8_Missense_Mutation_p.L717M|BAI3_ENST00000546190.1_Missense_Mutation_p.L475M	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1511					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.L1511M(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GAATTTGCCTCTGGATGTGCA	0.418																																																	1	Substitution - Missense(1)	lung(1)											88.0	77.0	81.0					6																	70098745		2203	4300	6503	SO:0001583	missense	0			AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.4531C>A	6.37:g.70098745C>A	ENSP00000359630:p.Leu1511Met		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like	p.L1511M	ENST00000370598.1	37	c.4531	CCDS4968.1	6	.	.	.	.	.	.	.	.	.	.	C	14.30	2.495560	0.44352	.	.	ENSG00000135298	ENST00000370598;ENST00000238918;ENST00000546190	T;T;T	0.57273	1.48;2.1;0.41	5.96	4.19	0.49359	.	0.000000	0.85682	D	0.000000	T	0.58495	0.2126	M	0.70595	2.14	0.46113	D	0.998878	D;D	0.65815	0.995;0.995	D;D	0.72982	0.979;0.979	T	0.64351	-0.6428	10	0.72032	D	0.01	.	7.9583	0.30055	0.0:0.7069:0.0:0.2931	.	717;1511	B7Z356;O60242	.;BAI3_HUMAN	M	1511;717;475	ENSP00000359630:L1511M;ENSP00000238918:L717M;ENSP00000441821:L475M	ENSP00000238918:L717M	L	+	1	2	BAI3	70155466	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	1.767000	0.38501	1.535000	0.49220	0.655000	0.94253	CTG	BAI3	-	NULL	ENSG00000135298		0.418	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAI3	HGNC	protein_coding	OTTHUMT00000041120.1		0.00	12	0	C			70098745	+1			no_errors	ENST00000370598	ensembl	human	known	74_37	missense	7.14	26	2	SNP	1.000	A
BAZ2A	11176	genome.wustl.edu	37	12	56998952	56998952	+	Missense_Mutation	SNP	G	G	C			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr12:56998952G>C	ENST00000551812.1	-	14	2852	c.2659C>G	c.(2659-2661)Ctg>Gtg	p.L887V	BAZ2A_ENST00000179765.5_Missense_Mutation_p.L855V|BAZ2A_ENST00000549884.1_Missense_Mutation_p.L885V|BAZ2A_ENST00000379441.3_Missense_Mutation_p.L857V	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	887	DDT. {ECO:0000255|PROSITE- ProRule:PRU00063}.				chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						CCTTGACACAGGAGTCCCTCC	0.572																																																	0													66.0	66.0	66.0					12																	56998952		2085	4218	6303	SO:0001583	missense	0			AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"""Zinc fingers, PHD-type"""	962	protein-coding gene	gene with protein product	"""TTF-I interacting peptide 5"""	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.2659C>G	12.37:g.56998952G>C	ENSP00000446880:p.Leu887Val		B3KN66|O00536|O15030|Q68DI8|Q96H26	Missense_Mutation	SNP	pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_dom,superfamily_Znf_FYVE_PHD,smart_Methyl_CpG_DNA-bd,smart_AT_hook_DNA-bd_motif,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.L887V	ENST00000551812.1	37	c.2659	CCDS44924.1	12	.	.	.	.	.	.	.	.	.	.	G	18.15	3.560391	0.65538	.	.	ENSG00000076108	ENST00000379441;ENST00000179765;ENST00000551812;ENST00000549884	T;T;T;T	0.72167	-0.58;-0.58;-0.63;-0.63	5.3	2.45	0.29901	DDT domain superfamily (1);DDT domain, subgroup (1);DDT domain (1);	0.171847	0.39083	N	0.001472	T	0.77003	0.4067	M	0.68593	2.085	0.43032	D	0.9946	D;D	0.67145	0.995;0.996	P;D	0.65573	0.894;0.936	T	0.72312	-0.4331	10	0.33141	T	0.24	-18.7697	7.4567	0.27270	0.4347:0.0:0.5653:0.0	.	885;887	F8VU39;Q9UIF9	.;BAZ2A_HUMAN	V	857;855;887;885	ENSP00000368754:L857V;ENSP00000179765:L855V;ENSP00000446880:L887V;ENSP00000447941:L885V	ENSP00000179765:L855V	L	-	1	2	BAZ2A	55285219	0.495000	0.26051	0.994000	0.49952	0.979000	0.70002	0.755000	0.26405	0.322000	0.23283	-0.140000	0.14226	CTG	BAZ2A	-	pfam_DDT_dom,smart_DDT_dom_subgr,pfscan_DDT_dom_superfamily	ENSG00000076108		0.572	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BAZ2A	HGNC	protein_coding	OTTHUMT00000408561.1	-	0.00	87	0	G	NM_013449		56998952	-1	tier1	-	no_errors	ENST00000551812	ensembl	human	known	74_37	missense	19.61	40	10	SNP	0.805	C
BBS12	166379	genome.wustl.edu	37	4	123664834	123664834	+	Missense_Mutation	SNP	A	A	G			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr4:123664834A>G	ENST00000314218.3	+	2	1980	c.1787A>G	c.(1786-1788)cAg>cGg	p.Q596R	BBS12_ENST00000542236.1_Missense_Mutation_p.Q596R	NM_152618.2	NP_689831.2	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	596					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|eating behavior (GO:0042755)|intraciliary transport (GO:0042073)|negative regulation of fat cell differentiation (GO:0045599)|photoreceptor cell maintenance (GO:0045494)	cilium (GO:0005929)	ATP binding (GO:0005524)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						AATGGATGGCAGAAATACCTT	0.433									Bardet-Biedl syndrome																																								0													88.0	84.0	85.0					4																	123664834		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AK123553	CCDS3728.1	4q27	2014-06-17	2006-12-13	2006-12-13	ENSG00000181004	ENSG00000181004		"""Heat Shock Proteins / Chaperonins"""	26648	protein-coding gene	gene with protein product		610683	"""chromosome 4 open reading frame 24"""	C4orf24		17160889	Standard	NM_001178007		Approved	FLJ35630, FLJ41559	uc003ieu.3	Q6ZW61	OTTHUMG00000133070	ENST00000314218.3:c.1787A>G	4.37:g.123664834A>G	ENSP00000319062:p.Gln596Arg		D3DNX5|Q7Z342|Q7Z482|Q8NAB8	Missense_Mutation	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom	p.Q596R	ENST00000314218.3	37	c.1787	CCDS3728.1	4	.	.	.	.	.	.	.	.	.	.	A	9.633	1.136911	0.21123	.	.	ENSG00000181004	ENST00000314218;ENST00000542236	T;T	0.68479	-0.33;-0.33	5.71	1.82	0.25136	.	0.492988	0.22496	N	0.059299	T	0.38957	0.1060	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.16041	-1.0416	10	0.23302	T	0.38	-12.2257	5.7411	0.18094	0.6887:0.0:0.1965:0.1148	.	596	Q6ZW61	BBS12_HUMAN	R	596	ENSP00000319062:Q596R;ENSP00000438273:Q596R	ENSP00000319062:Q596R	Q	+	2	0	BBS12	123884284	0.141000	0.22595	0.104000	0.21259	0.972000	0.66771	0.668000	0.25127	0.085000	0.17107	0.482000	0.46254	CAG	BBS12	-	superfamily_Cpn60/TCP-1	ENSG00000181004		0.433	BBS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BBS12	HGNC	protein_coding	OTTHUMT00000256710.1		0.00	11	0	A	NM_152618		123664834	+1			no_errors	ENST00000314218	ensembl	human	known	74_37	missense	27.50	29	11	SNP	0.038	G
BEST2	54831	genome.wustl.edu	37	19	12866567	12866567	+	Missense_Mutation	SNP	G	G	T	rs150329270		TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr19:12866567G>T	ENST00000549706.1	+	7	1177	c.853G>T	c.(853-855)Gcc>Tcc	p.A285S	BEST2_ENST00000042931.1_Missense_Mutation_p.A285S|BEST2_ENST00000553030.1_Missense_Mutation_p.A285S			Q8NFU1	BEST2_HUMAN	bestrophin 2	285					chloride transmembrane transport (GO:1902476)|membrane depolarization (GO:0051899)|sensory perception of smell (GO:0007608)	chloride channel complex (GO:0034707)|cilium (GO:0005929)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	12						CTTCTTCTACGCCGGCTGGCT	0.582																																																	0													81.0	85.0	84.0					19																	12866567		2059	4216	6275	SO:0001583	missense	0			AF440756	CCDS42506.1	19p13.13	2014-08-12	2006-10-18	2006-10-18	ENSG00000039987	ENSG00000039987		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	17107	protein-coding gene	gene with protein product		607335	"""vitelliform macular dystrophy 2-like 1"""	VMD2L1		12032738, 16912113	Standard	NM_017682		Approved	FLJ20132	uc002mux.3	Q8NFU1	OTTHUMG00000169293	ENST00000549706.1:c.853G>T	19.37:g.12866567G>T	ENSP00000448310:p.Ala285Ser		Q53YQ8|Q9NXP0	Missense_Mutation	SNP	pfam_Bestrophin/UPF0187	p.A285S	ENST00000549706.1	37	c.853	CCDS42506.1	19	.	.	.	.	.	.	.	.	.	.	G	12.84	2.057827	0.36277	.	.	ENSG00000039987	ENST00000549706;ENST00000553030;ENST00000042931	D;D;D	0.98531	-4.98;-4.98;-4.98	4.49	3.42	0.39159	.	0.214788	0.37393	N	0.002115	D	0.96309	0.8796	L	0.49640	1.575	0.41738	D	0.989593	B	0.19817	0.039	B	0.26969	0.075	D	0.94369	0.7594	10	0.38643	T	0.18	-6.0455	12.5727	0.56347	0.0:0.0:0.832:0.168	.	285	Q8NFU1	BEST2_HUMAN	S	285	ENSP00000448310:A285S;ENSP00000447203:A285S;ENSP00000042931:A285S	ENSP00000042931:A285S	A	+	1	0	BEST2	12727567	0.998000	0.40836	0.174000	0.22961	0.477000	0.33069	7.577000	0.82486	1.058000	0.40530	0.650000	0.86243	GCC	BEST2	-	pfam_Bestrophin/UPF0187	ENSG00000039987		0.582	BEST2-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	BEST2	HGNC	protein_coding	OTTHUMT00000403343.1		0.00	54	0	G	NM_017682		12866567	+1			no_errors	ENST00000042931	ensembl	human	known	74_37	missense	7.69	36	3	SNP	0.993	T
BHLHE40	8553	genome.wustl.edu	37	3	5024704	5024704	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr3:5024704G>T	ENST00000256495.3	+	5	1169	c.566G>T	c.(565-567)aGg>aTg	p.R189M		NM_003670.2	NP_003661.1	O14503	BHE40_HUMAN	basic helix-loop-helix family, member e40	189					circadian regulation of gene expression (GO:0032922)|entrainment of circadian clock by photoperiod (GO:0043153)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|MRF binding (GO:0043426)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2)	12						GGTACCTCCAGGAAGCCATCA	0.582																																																	0													66.0	71.0	69.0					3																	5024704		2203	4300	6503	SO:0001583	missense	0			AB004066	CCDS2565.1	3p26	2009-01-12	2009-01-12	2009-01-12	ENSG00000134107	ENSG00000134107		"""Basic helix-loop-helix proteins"""	1046	protein-coding gene	gene with protein product	"""differentially expressed in chondrocytes 1"", "" differentiated embryo chondrocyte expressed gene 1"""	604256	"""basic helix-loop-helix domain containing, class B, 2"""	STRA13, BHLHB2		9240428, 10449910, 18557763	Standard	NM_003670		Approved	DEC1, bHLHe40	uc003bqf.3	O14503	OTTHUMG00000119035	ENST00000256495.3:c.566G>T	3.37:g.5024704G>T	ENSP00000256495:p.Arg189Met		Q96TD3	Missense_Mutation	SNP	pfam_bHLH_dom,pfam_Orange,superfamily_bHLH_dom,smart_bHLH_dom,smart_Orange_subgr,pfscan_Orange,pfscan_bHLH_dom	p.R189M	ENST00000256495.3	37	c.566	CCDS2565.1	3	.	.	.	.	.	.	.	.	.	.	G	19.14	3.770221	0.69992	.	.	ENSG00000134107	ENST00000256495	T	0.64438	-0.1	5.67	4.61	0.57282	.	0.885860	0.10009	N	0.727428	T	0.57858	0.2082	L	0.29908	0.895	0.30839	N	0.735922	P	0.40376	0.715	B	0.43990	0.438	T	0.58098	-0.7696	10	0.46703	T	0.11	.	13.4886	0.61382	0.0866:0.0:0.9134:0.0	.	189	O14503	BHE40_HUMAN	M	189	ENSP00000256495:R189M	ENSP00000256495:R189M	R	+	2	0	BHLHE40	4999704	0.971000	0.33674	0.996000	0.52242	0.926000	0.56050	2.124000	0.42006	2.676000	0.91093	0.655000	0.94253	AGG	BHLHE40	-	NULL	ENSG00000134107		0.582	BHLHE40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BHLHE40	HGNC	protein_coding	OTTHUMT00000239244.2	-	0.00	104	0	G	NM_003670		5024704	+1	tier1	-	no_errors	ENST00000256495	ensembl	human	known	74_37	missense	6.67	56	4	SNP	0.974	T
BIK	638	genome.wustl.edu	37	22	43525245	43525247	+	In_Frame_Del	DEL	GCT	GCT	-	rs542081559		TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	GCT	GCT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr22:43525245_43525247delGCT	ENST00000216115.2	+	5	480_482	c.417_419delGCT	c.(415-420)gcgctg>gcg	p.L144del		NM_001197.4	NP_001188.1	Q13323	BIK_HUMAN	BCL2-interacting killer (apoptosis-inducing)	144	Leucine-zipper. {ECO:0000255}.				apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|male gonad development (GO:0008584)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|mitochondrial envelope (GO:0005740)				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|urinary_tract(1)	5		Ovarian(80;0.0694)				tgctgctggcgctgctgctgctg	0.724																																																	0										9,134,3841		1,0,7,18,98,1868						-8.8	0.0			26	9,256,7523		1,0,7,46,164,3676	no	codingComplex	BIK	NM_001197.4		2,0,14,64,262,5544	A1A1,A1A2,A1R,A2A2,A2R,RR		3.4027,3.5894,3.4659				18,390,11364				SO:0001651	inframe_deletion	0			U34584	CCDS14044.1	22q13.31	2014-03-07			ENSG00000100290	ENSG00000100290			1051	protein-coding gene	gene with protein product		603392				7478623, 10591208	Standard	NM_001197		Approved	NBK	uc003bdk.3	Q13323	OTTHUMG00000150703	ENST00000216115.2:c.417_419delGCT	22.37:g.43525254_43525256delGCT	ENSP00000216115:p.Leu144del		Q16582|Q6FH93	In_Frame_Del	DEL	pfam_Bcl2-int_killer	p.L143in_frame_del	ENST00000216115.2	37	c.417_419	CCDS14044.1	22																																																																																			BIK	-	pfam_Bcl2-int_killer	ENSG00000100290		0.724	BIK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BIK	HGNC	protein_coding	OTTHUMT00000319676.1		0.00	49	0	GCT	NM_001197		43525247	+1	tier1		no_errors	ENST00000216115	ensembl	human	known	74_37	in_frame_del	25.00	9	3	DEL	0.001:0.000:0.000	-
BIRC6	57448	genome.wustl.edu	37	2	32693541	32693541	+	Silent	SNP	G	G	A			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr2:32693541G>A	ENST00000421745.2	+	29	5951	c.5817G>A	c.(5815-5817)ttG>ttA	p.L1939L		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1939					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					AAACCCTTTTGCAAAGTATTG	0.348																																					Pancreas(94;175 1509 16028 18060 45422)												0													82.0	81.0	81.0					2																	32693541		2203	4300	6503	SO:0001819	synonymous_variant	0			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.5817G>A	2.37:g.32693541G>A			Q9ULD1	Silent	SNP	pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2	p.L1939	ENST00000421745.2	37	c.5817	CCDS33175.2	2																																																																																			BIRC6	-	NULL	ENSG00000115760		0.348	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BIRC6	HGNC	protein_coding	OTTHUMT00000318769.3		0.00	21	0	G	NM_016252		32693541	+1			no_errors	ENST00000421745	ensembl	human	known	74_37	silent	8.00	45	4	SNP	1.000	A
BRINP3	339479	genome.wustl.edu	37	1	190068031	190068031	+	Missense_Mutation	SNP	A	A	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr1:190068031A>T	ENST00000367462.3	-	8	1649	c.1418T>A	c.(1417-1419)cTc>cAc	p.L473H	BRINP3_ENST00000534846.1_Missense_Mutation_p.L371H	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	473					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)											AGGCTTGCAGAGCCCCTGGCT	0.577																																																	0													108.0	109.0	109.0					1																	190068031		2203	4300	6503	SO:0001583	missense	0			AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.1418T>A	1.37:g.190068031A>T	ENSP00000356432:p.Leu473His		B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	pfam_MACPF,smart_MACPF	p.L473H	ENST00000367462.3	37	c.1418	CCDS1373.1	1	.	.	.	.	.	.	.	.	.	.	A	5.231	0.228058	0.09916	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.42513	0.97;0.97	5.75	4.63	0.57726	Epidermal growth factor-like (1);	0.716696	0.13597	N	0.376186	T	0.32526	0.0832	L	0.40543	1.245	0.09310	N	1	P;P	0.37276	0.589;0.454	B;B	0.34242	0.178;0.087	T	0.18209	-1.0344	10	0.44086	T	0.13	.	9.2718	0.37675	0.9161:0.0:0.0839:0.0	.	371;473	B7Z260;Q76B58	.;FAM5C_HUMAN	H	473;371	ENSP00000356432:L473H;ENSP00000438022:L371H	ENSP00000356432:L473H	L	-	2	0	FAM5C	188334654	0.010000	0.17322	0.752000	0.31206	0.475000	0.33008	1.955000	0.40372	2.190000	0.69967	0.482000	0.46254	CTC	BRINP3	-	NULL	ENSG00000162670		0.577	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRINP3	HGNC	protein_coding	OTTHUMT00000086278.1	-	0.00	40	0	A	NM_199051		190068031	-1	tier1	-	no_errors	ENST00000367462	ensembl	human	known	74_37	missense	38.89	11	7	SNP	0.147	T
BRPF1	7862	genome.wustl.edu	37	3	9781555	9781555	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr3:9781555G>T	ENST00000457855.1	+	2	1483	c.1472G>T	c.(1471-1473)cGg>cTg	p.R491L	BRPF1_ENST00000383829.2_Missense_Mutation_p.R491L|BRPF1_ENST00000302054.3_Missense_Mutation_p.R491L|BRPF1_ENST00000433861.2_Missense_Mutation_p.R491L|BRPF1_ENST00000424362.1_Missense_Mutation_p.R491L			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	491					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					GCCAAGTCCCGGATCAAAATG	0.587																																																	0													41.0	43.0	42.0					3																	9781555		2201	4298	6499	SO:0001583	missense	0			M91585	CCDS2575.1, CCDS33692.1	3p26-p25	2008-07-18			ENSG00000156983	ENSG00000156983			14255	protein-coding gene	gene with protein product	"""peregrin"", ""bromodomain-containing protein, 140kD"""	602410				8946209, 7906940	Standard	NM_001003694		Approved	BR140	uc003bsf.3	P55201	OTTHUMG00000097033	ENST00000457855.1:c.1472G>T	3.37:g.9781555G>T	ENSP00000410210:p.Arg491Leu		B4DEZ6|Q7Z6E0|Q8TCM6|Q9UHI0	Missense_Mutation	SNP	pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP_dom,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_PHD-finger,pfscan_Znf_C2H2,pfscan_Bromodomain,prints_Bromodomain	p.R491L	ENST00000457855.1	37	c.1472	CCDS2575.1	3	.	.	.	.	.	.	.	.	.	.	G	24.4	4.521910	0.85600	.	.	ENSG00000156983	ENST00000433861;ENST00000424362;ENST00000383829;ENST00000302054;ENST00000457855	T;T;T;T;T	0.18960	2.19;2.18;3.58;2.18;2.18	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.33876	0.0878	M	0.70595	2.14	0.80722	D	1	P;P;P;P	0.47302	0.893;0.799;0.799;0.666	B;B;B;B	0.43783	0.332;0.431;0.431;0.178	T	0.08269	-1.0730	10	0.66056	D	0.02	.	20.5792	0.99380	0.0:0.0:1.0:0.0	.	491;491;491;491	P55201-4;P55201-3;P55201-2;P55201	.;.;.;BRPF1_HUMAN	L	491	ENSP00000402485:R491L;ENSP00000398863:R491L;ENSP00000373340:R491L;ENSP00000306297:R491L;ENSP00000410210:R491L	ENSP00000306297:R491L	R	+	2	0	BRPF1	9756555	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.609000	0.82925	2.873000	0.98535	0.561000	0.74099	CGG	BRPF1	-	NULL	ENSG00000156983		0.587	BRPF1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BRPF1	HGNC	protein_coding	OTTHUMT00000338485.1		0.00	81	0	G	NM_001003694		9781555	+1			no_errors	ENST00000383829	ensembl	human	known	74_37	missense	5.71	33	2	SNP	1.000	T
BRWD1	54014	genome.wustl.edu	37	21	40587221	40587221	+	Nonsense_Mutation	SNP	C	C	A			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr21:40587221C>A	ENST00000333229.2	-	32	4054	c.3727G>T	c.(3727-3729)Gag>Tag	p.E1243*	BRWD1_ENST00000380800.3_Nonsense_Mutation_p.E1243*|BRWD1-IT1_ENST00000435608.1_RNA|BRWD1_ENST00000342449.3_Nonsense_Mutation_p.E1243*	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1243	Bromo 1. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.E1243K(2)		cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				ATTACACTCTCAGGTTCGTTA	0.328																																					Melanoma(170;988 1986 4794 16843 39731)												2	Substitution - Missense(2)	cervix(2)											146.0	134.0	138.0					21																	40587221		2203	4300	6503	SO:0001587	stop_gained	0			AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.3727G>T	21.37:g.40587221C>A	ENSP00000330753:p.Glu1243*		C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Nonsense_Mutation	SNP	pfam_WD40_repeat,pfam_Bromodomain,superfamily_WD40_repeat_dom,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain	p.E1243*	ENST00000333229.2	37	c.3727	CCDS13662.1	21	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.6|25.6	4.656456|4.656456	0.88154|0.88154	.|.	.|.	ENSG00000185658|ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800;ENST00000380783|ENST00000424441	.|.	.|.	.|.	5.55|5.55	4.66|4.66	0.58398|0.58398	.|.	0.425221|.	0.23738|.	N|.	0.045056|.	.|.	.|.	.|.	.|.	.|.	.|.	0.24318|0.24318	N|N	0.995057|0.995057	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.21014|.	T|.	0.42|.	.|.	10.7045|10.7045	0.45948|0.45948	0.0:0.7957:0.1333:0.071|0.0:0.7957:0.1333:0.071	.|.	.|.	.|.	.|.	X|L	1243;1243;1243;247|228	.|.	ENSP00000330753:E1243X|.	E|X	-|-	1|2	0|2	BRWD1|BRWD1	39509091|39509091	0.002000|0.002000	0.14202|0.14202	0.928000|0.928000	0.36995|0.36995	0.990000|0.990000	0.78478|0.78478	0.716000|0.716000	0.25836|0.25836	1.328000|1.328000	0.45358|0.45358	0.655000|0.655000	0.94253|0.94253	GAG|TGA	BRWD1	-	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain	ENSG00000185658		0.328	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRWD1	HGNC	protein_coding	OTTHUMT00000141398.3		0.00	25	0	C	NM_033656		40587221	-1			no_errors	ENST00000333229	ensembl	human	known	74_37	nonsense	10.00	18	2	SNP	0.260	A
BSX	390259	genome.wustl.edu	37	11	122850018	122850018	+	Missense_Mutation	SNP	G	G	A			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr11:122850018G>A	ENST00000343035.2	-	2	458	c.410C>T	c.(409-411)aCg>aTg	p.T137M		NM_001098169.1	NP_001091639.1	Q3C1V8	BSH_HUMAN	brain-specific homeobox	137					eating behavior (GO:0042755)|locomotory behavior (GO:0007626)|mammary gland involution (GO:0060056)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	10		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)		TCGTTCTGGCGTGGACAGGTA	0.657																																																	0													62.0	74.0	70.0					11																	122850018		2076	4205	6281	SO:0001583	missense	0				CCDS41728.1	11q24.1	2011-07-19			ENSG00000188909	ENSG00000188909		"""Homeoboxes / ANTP class : NKL subclass"""	20450	protein-coding gene	gene with protein product		611074					Standard	NM_001098169		Approved	BSX1	uc010rzs.2	Q3C1V8	OTTHUMG00000150247	ENST00000343035.2:c.410C>T	11.37:g.122850018G>A	ENSP00000344285:p.Thr137Met			Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.T137M	ENST00000343035.2	37	c.410	CCDS41728.1	11	.	.	.	.	.	.	.	.	.	.	G	25.8	4.672099	0.88348	.	.	ENSG00000188909	ENST00000343035	D	0.96265	-3.96	5.22	4.25	0.50352	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.100737	0.64402	D	0.000002	D	0.96969	0.9010	L	0.48877	1.53	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96976	0.9712	10	0.54805	T	0.06	.	15.2252	0.73345	0.0:0.1409:0.8591:0.0	.	137	Q3C1V8	BSH_HUMAN	M	137	ENSP00000344285:T137M	ENSP00000344285:T137M	T	-	2	0	BSX	122355228	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.524000	0.73791	2.454000	0.82982	0.655000	0.94253	ACG	BSX	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	ENSG00000188909		0.657	BSX-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	BSX	HGNC	protein_coding	OTTHUMT00000317076.1	-	0.00	74	0	G	NM_001098169		122850018	-1	tier1	-	no_errors	ENST00000343035	ensembl	human	known	74_37	missense	7.41	50	4	SNP	1.000	A
BTBD9	114781	genome.wustl.edu	37	6	38560574	38560574	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr6:38560574G>T	ENST00000481247.1	-	4	743	c.592C>A	c.(592-594)Ccc>Acc	p.P198T	BTBD9_ENST00000403056.1_Missense_Mutation_p.P198T|BTBD9_ENST00000314100.6_Missense_Mutation_p.P130T|BTBD9_ENST00000408958.1_Missense_Mutation_p.P130T|BTBD9_ENST00000419706.2_Missense_Mutation_p.P139T	NM_001099272.1|NM_052893.1	NP_001092742.1|NP_443125.1	Q96Q07	BTBD9_HUMAN	BTB (POZ) domain containing 9	198	BACK.				adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|circadian sleep/wake cycle, non-REM sleep (GO:0042748)|long-term memory (GO:0007616)|multicellular organismal iron ion homeostasis (GO:0060586)|regulation of synaptic vesicle endocytosis (GO:1900242)|sensory perception of temperature stimulus (GO:0050951)|serotonin metabolic process (GO:0042428)					breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						TCTTTTTCGGGAGCTGCAAAT	0.383																																																	0													88.0	82.0	84.0					6																	38560574		1870	4094	5964	SO:0001583	missense	0				CCDS43458.1, CCDS47418.1, CCDS54998.1	6p21	2014-01-28			ENSG00000183826	ENSG00000183826		"""BTB/POZ domain containing"""	21228	protein-coding gene	gene with protein product		611237				11572484	Standard	NM_052893		Approved	KIAA1880, dJ322I12.1	uc010jwx.3	Q96Q07	OTTHUMG00000014634	ENST00000481247.1:c.592C>A	6.37:g.38560574G>T	ENSP00000418751:p.Pro198Thr		Q494V9|Q494W1|Q96M00	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_BACK,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_BTB/POZ_fold,superfamily_Galactose-bd-like,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like	p.P198T	ENST00000481247.1	37	c.592	CCDS47418.1	6	.	.	.	.	.	.	.	.	.	.	G	14.95	2.688334	0.48097	.	.	ENSG00000183826	ENST00000314100;ENST00000481247;ENST00000419706;ENST00000403056;ENST00000408958	T;T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26;-0.26	5.51	5.51	0.81932	BTB/Kelch-associated (2);	0.282279	0.39834	N	0.001245	T	0.46112	0.1376	N	0.25286	0.73	0.58432	D	0.999995	B;B	0.22983	0.078;0.009	B;B	0.25759	0.063;0.013	T	0.44982	-0.9292	10	0.52906	T	0.07	.	19.7609	0.96316	0.0:0.0:1.0:0.0	.	139;198	Q494V9;Q96Q07	.;BTBD9_HUMAN	T	130;198;139;198;130	ENSP00000323408:P130T;ENSP00000418751:P198T;ENSP00000415365:P139T;ENSP00000386121:P198T;ENSP00000386211:P130T	ENSP00000323408:P130T	P	-	1	0	BTBD9	38668552	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.081000	0.71309	2.741000	0.93983	0.563000	0.77884	CCC	BTBD9	-	pfam_BACK,smart_BACK	ENSG00000183826		0.383	BTBD9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	BTBD9	HGNC	protein_coding	OTTHUMT00000040433.2		0.00	20	0	G	NM_152733		38560574	-1			no_errors	ENST00000403056	ensembl	human	known	74_37	missense	5.00	76	4	SNP	1.000	T
C10orf53	282966	genome.wustl.edu	37	10	50916525	50916525	+	Silent	SNP	C	C	A			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr10:50916525C>A	ENST00000374112.3	+	3	348	c.336C>A	c.(334-336)acC>acA	p.T112T	C10orf53_ENST00000535836.1_Silent_p.T112T	NM_182554.2	NP_872360.2	Q8N6V4	CJ053_HUMAN	chromosome 10 open reading frame 53	0										endometrium(1)|lung(6)	7		all_neural(218;0.107)				cacaaaagacccaggacctga	0.502																																																	0													170.0	162.0	165.0					10																	50916525		2203	4300	6503	SO:0001819	synonymous_variant	0			BC028127	CCDS31202.1, CCDS41521.1	10q11.23	2012-05-24			ENSG00000178645	ENSG00000178645			27421	protein-coding gene	gene with protein product						12477932	Standard	NM_182554		Approved	Em:AC069546.1	uc001jid.1	Q8N6V4	OTTHUMG00000018199	ENST00000374112.3:c.336C>A	10.37:g.50916525C>A			A6NI81|A6NLE0|B9ZVK6	Silent	SNP	NULL	p.T112	ENST00000374112.3	37	c.336	CCDS31202.1	10																																																																																			C10orf53	-	NULL	ENSG00000178645		0.502	C10orf53-003	KNOWN	basic|CCDS	protein_coding	C10orf53	HGNC	protein_coding	OTTHUMT00000048006.1		0.00	43	0	C	NM_182554		50916525	+1			no_errors	ENST00000374112	ensembl	human	known	74_37	silent	5.68	83	5	SNP	0.000	A
C1QBP	708	genome.wustl.edu	37	17	5336678	5336678	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr17:5336678G>T	ENST00000225698.4	-	5	715	c.634C>A	c.(634-636)Cag>Aag	p.Q212K	C1QBP_ENST00000574444.1_Missense_Mutation_p.Q108K|CTC-524C5.2_ENST00000575890.1_RNA	NM_001212.3	NP_001203.1	Q07021	C1QBP_HUMAN	complement component 1, q subcomponent binding protein	212	Interaction with MAVS.				apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)|mature ribosome assembly (GO:0042256)|mRNA processing (GO:0006397)|negative regulation of defense response to virus (GO:0050687)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of MDA-5 signaling pathway (GO:0039534)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of mitochondrial translation (GO:0070131)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of trophoblast cell migration (GO:1901165)|regulation of complement activation (GO:0030449)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	adrenergic receptor binding (GO:0031690)|complement component C1q binding (GO:0001849)|hyaluronic acid binding (GO:0005540)|kininogen binding (GO:0030984)|mitochondrial ribosome binding (GO:0097177)|mRNA binding (GO:0003729)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			lung(2)|ovary(1)	3					Hyaluronan(DB08818)	CCAGTGGACTGAAAGCTAACT	0.468																																																	0													117.0	115.0	116.0					17																	5336678		2203	4300	6503	SO:0001583	missense	0			X75913	CCDS11071.1	17p13.3	2009-05-07				ENSG00000108561			1243	protein-coding gene	gene with protein product	"""C1q globular domain-binding protein"", ""hyaluronan-binding protein 1"", ""splicing factor SF2-associated protein"""	601269		HABP1		8567680, 8195709	Standard	NM_001212		Approved	gC1Q-R, gC1qR, p32, SF2p32	uc002gby.1	Q07021		ENST00000225698.4:c.634C>A	17.37:g.5336678G>T	ENSP00000225698:p.Gln212Lys		Q2HXR8|Q9NNY8	Missense_Mutation	SNP	pfam_MAM33,superfamily_MAM33	p.Q212K	ENST00000225698.4	37	c.634	CCDS11071.1	17	.	.	.	.	.	.	.	.	.	.	G	23.8	4.464871	0.84425	.	.	ENSG00000108561	ENST00000225698	.	.	.	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.72630	0.3484	M	0.79123	2.44	0.80722	D	1	P	0.51147	0.942	P	0.51833	0.681	T	0.71388	-0.4608	9	0.29301	T	0.29	-23.6844	17.687	0.88258	0.0:0.0:1.0:0.0	.	212	Q07021	C1QBP_HUMAN	K	212	.	ENSP00000225698:Q212K	Q	-	1	0	C1QBP	5277402	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	9.493000	0.97960	2.655000	0.90218	0.655000	0.94253	CAG	C1QBP	-	pfam_MAM33,superfamily_MAM33	ENSG00000108561		0.468	C1QBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1QBP	HGNC	protein_coding	OTTHUMT00000439388.1		0.00	20	0	G	NM_001212		5336678	-1			no_errors	ENST00000225698	ensembl	human	known	74_37	missense	7.32	38	3	SNP	1.000	T
C1QTNF1	114897	genome.wustl.edu	37	17	77043771	77043771	+	Silent	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr17:77043771G>T	ENST00000339142.2	+	5	1002	c.447G>T	c.(445-447)tcG>tcT	p.S149S	C1QTNF1_ENST00000580474.1_Silent_p.S149S|C1QTNF1_ENST00000580454.1_Silent_p.S149S|C1QTNF1_ENST00000311661.4_Silent_p.S67S|C1QTNF1_ENST00000579760.1_Silent_p.S149S|C1QTNF1_ENST00000578229.1_Silent_p.S67S|C1QTNF1_ENST00000392445.2_Silent_p.S149S|C1QTNF1_ENST00000581774.1_Silent_p.S149S|C1QTNF1_ENST00000582625.1_3'UTR|C1QTNF1_ENST00000354124.3_Silent_p.S159S|C1QTNF1_ENST00000583904.1_Silent_p.S149S	NM_198593.3	NP_940995.1	Q9BXJ1	C1QT1_HUMAN	C1q and tumor necrosis factor related protein 1	149	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				negative regulation of platelet activation (GO:0010544)|negative regulation of platelet aggregation (GO:0090331)|positive regulation of aldosterone secretion (GO:2000860)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase B signaling (GO:0051897)|protein heterotrimerization (GO:0070208)|protein homooligomerization (GO:0051260)|regulation of glucose metabolic process (GO:0010906)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	collagen binding (GO:0005518)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)			CCGCCTTTTCGGTGGGCCGGA	0.622																																																	0													78.0	74.0	75.0					17																	77043771		2203	4300	6503	SO:0001819	synonymous_variant	0			AF329840	CCDS11761.1, CCDS11762.1	17q25	2012-07-02			ENSG00000173918	ENSG00000173918			14324	protein-coding gene	gene with protein product	"""G protein coupled receptor interacting protein"""	610365				12409230	Standard	NM_198593		Approved	CTRP1, ZSIG37, GIP, FLJ90694	uc002jwp.4	Q9BXJ1	OTTHUMG00000177533	ENST00000339142.2:c.447G>T	17.37:g.77043771G>T			Q6ZMH6|Q96NF2|Q9GZR4	Silent	SNP	pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	p.S159	ENST00000339142.2	37	c.477	CCDS11761.1	17																																																																																			C1QTNF1	-	pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q	ENSG00000173918		0.622	C1QTNF1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C1QTNF1	HGNC	protein_coding	OTTHUMT00000437388.2		0.00	86	0	G	NM_030968		77043771	+1			no_errors	ENST00000354124	ensembl	human	known	74_37	silent	6.06	62	4	SNP	0.218	T
C6orf226	441150	genome.wustl.edu	37	6	42858442	42858442	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr6:42858442G>T	ENST00000408925.2	-	1	112	c.85C>A	c.(85-87)Cag>Aag	p.Q29K		NM_001008739.1	NP_001008739.1	Q5I0X4	CF226_HUMAN	chromosome 6 open reading frame 226	29										lung(2)	2						TGGCCCTGCTGGACCAGCTGC	0.706																																																	0													30.0	38.0	35.0					6																	42858442		1958	4142	6100	SO:0001583	missense	0			BC051007, BC060325	CCDS43463.1	6p21.1	2009-02-11			ENSG00000221821	ENSG00000221821			34431	protein-coding gene	gene with protein product							Standard	NM_001008739		Approved	LOC441150	uc003osw.3	Q5I0X4	OTTHUMG00000156926	ENST00000408925.2:c.85C>A	6.37:g.42858442G>T	ENSP00000386146:p.Gln29Lys			Missense_Mutation	SNP	NULL	p.Q29K	ENST00000408925.2	37	c.85	CCDS43463.1	6	.	.	.	.	.	.	.	.	.	.	G	10.93	1.491155	0.26774	.	.	ENSG00000221821	ENST00000408925	.	.	.	5.15	5.15	0.70609	.	0.000000	0.56097	D	0.000023	T	0.49115	0.1538	N	0.24115	0.695	0.34893	D	0.745719	D	0.67145	0.996	D	0.83275	0.996	T	0.53322	-0.8455	9	0.45353	T	0.12	-28.7794	13.9874	0.64343	0.0:0.0:1.0:0.0	.	29	Q5I0X4	CF226_HUMAN	K	29	.	ENSP00000386146:Q29K	Q	-	1	0	C6orf226	42966420	0.991000	0.36638	0.979000	0.43373	0.194000	0.23727	2.581000	0.46077	2.677000	0.91161	0.561000	0.74099	CAG	C6orf226	-	NULL	ENSG00000221821		0.706	C6orf226-001	NOVEL	basic|appris_principal|CCDS	protein_coding	C6orf226	HGNC	protein_coding	OTTHUMT00000346635.1	-	0.00	49	0	G	NM_001008739		42858442	-1	tier1	-	no_errors	ENST00000408925	ensembl	human	novel	74_37	missense	11.11	32	4	SNP	0.984	T
C8A	731	genome.wustl.edu	37	1	57340647	57340647	+	Missense_Mutation	SNP	C	C	G			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr1:57340647C>G	ENST00000361249.3	+	3	293	c.197C>G	c.(196-198)cCa>cGa	p.P66R		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	66	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						CTCTTGCAGCCAAACAAGTTT	0.478																																																	0													77.0	74.0	75.0					1																	57340647		2203	4300	6503	SO:0001583	missense	0			M16974	CCDS606.1	1p32.2	2014-09-17			ENSG00000157131	ENSG00000157131		"""Complement system"""	1352	protein-coding gene	gene with protein product		120950					Standard	NM_000562		Approved		uc001cyo.2	P07357	OTTHUMG00000008306	ENST00000361249.3:c.197C>G	1.37:g.57340647C>G	ENSP00000354458:p.Pro66Arg		A2RUI4|A2RUI5|Q13668|Q9H130	Missense_Mutation	SNP	pfam_MACPF,pfam_LDrepeatLR_classA_rpt,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,pfscan_LDrepeatLR_classA_rpt,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin	p.P66R	ENST00000361249.3	37	c.197	CCDS606.1	1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.221925	0.79464	.	.	ENSG00000157131	ENST00000361249	T	0.20332	2.08	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.56819	0.2011	M	0.93016	3.37	0.58432	D	0.999999	D	0.89917	1.0	D	0.80764	0.994	T	0.63292	-0.6670	10	0.45353	T	0.12	-15.1195	17.5774	0.87955	0.0:1.0:0.0:0.0	.	66	P07357	CO8A_HUMAN	R	66	ENSP00000354458:P66R	ENSP00000354458:P66R	P	+	2	0	C8A	57113235	0.999000	0.42202	0.994000	0.49952	0.991000	0.79684	5.403000	0.66338	2.820000	0.97059	0.650000	0.86243	CCA	C8A	-	superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin	ENSG00000157131		0.478	C8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C8A	HGNC	protein_coding	OTTHUMT00000022890.1	-	0.00	23	0	C	NM_000562		57340647	+1	tier1	-	no_errors	ENST00000361249	ensembl	human	known	74_37	missense	28.57	45	18	SNP	0.999	G
C8B	732	genome.wustl.edu	37	1	57399057	57399057	+	Missense_Mutation	SNP	A	A	C			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr1:57399057A>C	ENST00000371237.4	-	10	1569	c.1503T>G	c.(1501-1503)agT>agG	p.S501R	C8B_ENST00000543257.1_Missense_Mutation_p.S449R|C8B_ENST00000535057.1_Missense_Mutation_p.S439R	NM_000066.2	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	501	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)|vesicle (GO:0031982)				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						AGTGGCAGGAACTAACTTCCT	0.517																																																	0													92.0	79.0	84.0					1																	57399057		2203	4300	6503	SO:0001583	missense	0			M16973	CCDS30730.1, CCDS60151.1, CCDS60152.1	1p32.2	2014-09-17			ENSG00000021852	ENSG00000021852		"""Complement system"""	1353	protein-coding gene	gene with protein product		120960					Standard	NM_000066		Approved		uc001cyp.3	P07358	OTTHUMG00000008305	ENST00000371237.4:c.1503T>G	1.37:g.57399057A>C	ENSP00000360281:p.Ser501Arg		A1L4K7	Missense_Mutation	SNP	pfam_MACPF,pfam_LDrepeatLR_classA_rpt,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,pfscan_LDrepeatLR_classA_rpt,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin	p.S501R	ENST00000371237.4	37	c.1503	CCDS30730.1	1	.	.	.	.	.	.	.	.	.	.	A	15.71	2.913643	0.52439	.	.	ENSG00000021852	ENST00000371237;ENST00000543257;ENST00000535057	T;T;T	0.28255	1.77;1.79;1.62	5.07	3.18	0.36537	Membrane attack complex component/perforin (MACPF) domain (1);	0.197129	0.64402	D	0.000007	T	0.42154	0.1190	M	0.78637	2.42	0.58432	D	0.999995	D;D;P	0.53885	0.963;0.963;0.938	P;P;P	0.53006	0.715;0.715;0.523	T	0.26189	-1.0110	10	0.32370	T	0.25	-10.8358	8.0709	0.30689	0.3847:0.0:0.6153:0.0	.	449;439;501	F5H7G1;F5GY80;P07358	.;.;CO8B_HUMAN	R	501;449;439	ENSP00000360281:S501R;ENSP00000442548:S449R;ENSP00000440113:S439R	ENSP00000360281:S501R	S	-	3	2	C8B	57171645	1.000000	0.71417	0.998000	0.56505	0.606000	0.37113	2.455000	0.44988	0.823000	0.34589	-0.248000	0.11899	AGT	C8B	-	prints_MAC_perforin	ENSG00000021852		0.517	C8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C8B	HGNC	protein_coding	OTTHUMT00000022886.2	-	0.00	51	0	A			57399057	-1	tier1	-	no_errors	ENST00000371237	ensembl	human	known	74_37	missense	41.38	34	24	SNP	0.917	C
C8orf48	157773	genome.wustl.edu	37	8	13424530	13424530	+	Silent	SNP	G	G	A			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr8:13424530G>A	ENST00000297324.4	+	1	179	c.30G>A	c.(28-30)acG>acA	p.T10T	RP11-145O15.3_ENST00000529018.1_RNA	NM_001007090.2	NP_001007091	Q96LL4	CH048_HUMAN	chromosome 8 open reading frame 48	10										NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	5						TGGCCCAAACGGACAAAAGTG	0.517																																																	0													15.0	14.0	14.0					8																	13424530		692	1591	2283	SO:0001819	synonymous_variant	0			AK058131	CCDS47809.1	8p22	2012-04-13			ENSG00000164743	ENSG00000164743			26345	protein-coding gene	gene with protein product						12477932	Standard	NM_001007090		Approved	FLJ25402	uc003wwp.3	Q96LL4	OTTHUMG00000165482	ENST00000297324.4:c.30G>A	8.37:g.13424530G>A			Q96LJ9	Silent	SNP	NULL	p.T10	ENST00000297324.4	37	c.30	CCDS47809.1	8																																																																																			C8orf48	-	NULL	ENSG00000164743		0.517	C8orf48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C8orf48	HGNC	protein_coding	OTTHUMT00000384400.1	-	0.00	66	0	G	NM_001007090		13424530	+1	tier1	-	no_errors	ENST00000297324	ensembl	human	known	74_37	silent	5.02	265	14	SNP	0.000	A
C9orf84	158401	genome.wustl.edu	37	9	114454392	114454392	+	Missense_Mutation	SNP	C	C	A			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr9:114454392C>A	ENST00000318737.4	-	25	3801	c.3673G>T	c.(3673-3675)Gat>Tat	p.D1225Y	C9orf84_ENST00000394779.3_Missense_Mutation_p.D1186Y|C9orf84_ENST00000394777.4_Missense_Mutation_p.D1151Y|C9orf84_ENST00000374287.3_Missense_Mutation_p.D1225Y	NM_173521.3	NP_775792.3	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	1225										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						GACTCTGAATCACTGTGGTTT	0.388																																																	0													57.0	62.0	60.0					9																	114454392		2202	4299	6501	SO:0001583	missense	0			AL833535	CCDS6781.3, CCDS43863.1	9q32	2012-03-16			ENSG00000165181	ENSG00000165181			26535	protein-coding gene	gene with protein product							Standard	XM_005251738		Approved	FLJ32779	uc004bfr.3	Q5VXU9	OTTHUMG00000020495	ENST00000318737.4:c.3673G>T	9.37:g.114454392C>A	ENSP00000322108:p.Asp1225Tyr		A2A2V3|Q2M1H8|Q96M73	Missense_Mutation	SNP	superfamily_RuvA_2-like	p.D1225Y	ENST00000318737.4	37	c.3673	CCDS6781.3	9	.	.	.	.	.	.	.	.	.	.	C	13.18	2.160622	0.38119	.	.	ENSG00000165181	ENST00000394779;ENST00000394777;ENST00000394778;ENST00000374287;ENST00000318737	T;T;T;T	0.12879	2.64;2.72;2.67;2.67	5.25	3.38	0.38709	.	0.372941	0.22864	N	0.054715	T	0.14270	0.0345	L	0.27053	0.805	0.22541	N	0.999002	P;P;P	0.44429	0.835;0.665;0.835	P;P;P	0.49252	0.604;0.604;0.604	T	0.05178	-1.0901	10	0.72032	D	0.01	-4.2284	8.6295	0.33911	0.0:0.7634:0.1528:0.0838	.	1151;1225;1186	A6PVK7;Q5VXU9;A2A2V3	.;CI084_HUMAN;.	Y	1186;1151;839;1225;1225	ENSP00000378259:D1186Y;ENSP00000378257:D1151Y;ENSP00000363405:D1225Y;ENSP00000322108:D1225Y	ENSP00000322108:D1225Y	D	-	1	0	C9orf84	113494213	0.600000	0.26899	0.138000	0.22173	0.602000	0.36980	0.847000	0.27696	0.688000	0.31529	0.467000	0.42956	GAT	C9orf84	-	NULL	ENSG00000165181		0.388	C9orf84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C9orf84	HGNC	protein_coding	OTTHUMT00000053656.2		0.00	13	0	C	NM_173521		114454392	-1			no_errors	ENST00000318737	ensembl	human	known	74_37	missense	6.06	62	4	SNP	0.380	A
CACNA1E	777	genome.wustl.edu	37	1	181549830	181549830	+	Missense_Mutation	SNP	C	C	A			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr1:181549830C>A	ENST00000367573.2	+	6	869	c.869C>A	c.(868-870)aCc>aAc	p.T290N	CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000526775.1_Missense_Mutation_p.T290N|CACNA1E_ENST00000360108.3_Missense_Mutation_p.T290N|CACNA1E_ENST00000357570.5_Missense_Mutation_p.T241N|CACNA1E_ENST00000358338.5_Missense_Mutation_p.T241N|CACNA1E_ENST00000367570.1_Missense_Mutation_p.T290N	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	290					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						GATGGGATCACCCAGTTTGAT	0.527																																																	0													155.0	155.0	155.0					1																	181549830		2052	4204	6256	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.869C>A	1.37:g.181549830C>A	ENSP00000356545:p.Thr290Asn		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.T290N	ENST00000367573.2	37	c.869	CCDS55664.1	1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.548427	0.86127	.	.	ENSG00000198216	ENST00000524607;ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.98567	-5.0;-5.0;-5.0;-5.0;-5.0;-5.0;-5.0	4.97	4.97	0.65823	.	0.099447	0.64402	D	0.000002	D	0.99032	0.9669	M	0.87328	2.875	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.994	D	0.99777	1.1026	10	0.87932	D	0	.	17.8239	0.88658	0.0:1.0:0.0:0.0	.	290;290	Q15878-2;Q15878-3	.;.	N	290;290;290;241;241;290;290	ENSP00000432038:T290N;ENSP00000356542:T290N;ENSP00000434814:T290N;ENSP00000350183:T241N;ENSP00000351101:T241N;ENSP00000353222:T290N;ENSP00000356545:T290N	ENSP00000350183:T241N	T	+	2	0	CACNA1E	179816453	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.711000	0.84669	2.314000	0.78098	0.561000	0.74099	ACC	CACNA1E	-	pfam_Ion_trans_dom	ENSG00000198216		0.527	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	CACNA1E	HGNC	protein_coding	OTTHUMT00000090793.2	-	0.00	52	0	C	NM_000721		181549830	+1	tier1	-	no_errors	ENST00000367573	ensembl	human	known	74_37	missense	5.97	63	4	SNP	1.000	A
CAMTA2	23125	genome.wustl.edu	37	17	4872451	4872451	+	Missense_Mutation	SNP	C	C	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr17:4872451C>T	ENST00000348066.3	-	21	3587	c.3464G>A	c.(3463-3465)cGc>cAc	p.R1155H	SPAG7_ENST00000206020.3_5'Flank|RP5-1050D4.3_ENST00000576752.1_RNA|CAMTA2_ENST00000381311.5_Missense_Mutation_p.R1150H|CAMTA2_ENST00000572543.1_Missense_Mutation_p.R1160H|SPAG7_ENST00000573366.1_5'Flank|SPAG7_ENST00000575142.1_5'Flank|SPAG7_ENST00000571023.1_5'Flank|CAMTA2_ENST00000358183.4_Missense_Mutation_p.R1148H|CAMTA2_ENST00000414043.3_Missense_Mutation_p.R1178H|CAMTA2_ENST00000361571.5_Missense_Mutation_p.R1154H	NM_015099.3	NP_055914.2	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	1155					cardiac muscle hypertrophy in response to stress (GO:0014898)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						CTACTTGTTGCGGGCAGGCAG	0.667																																																	0													23.0	26.0	25.0					17																	4872451		2198	4292	6490	SO:0001583	missense	0			AB020716	CCDS11063.1, CCDS54071.1, CCDS54072.1, CCDS54073.1	17p13.3	2004-09-01			ENSG00000108509	ENSG00000108509			18807	protein-coding gene	gene with protein product		611508				11925432	Standard	NM_015099		Approved	KIAA0909	uc010cku.2	O94983	OTTHUMG00000099417	ENST00000348066.3:c.3464G>A	17.37:g.4872451C>T	ENSP00000321813:p.Arg1155His		B9EGL0|D3DTL5|E7EWU5|Q7Z6M8|Q8N3V0|Q8NDG4|Q96G17	Missense_Mutation	SNP	pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS	p.R1178H	ENST00000348066.3	37	c.3533	CCDS11063.1	17	.	.	.	.	.	.	.	.	.	.	C	17.11	3.306025	0.60305	.	.	ENSG00000108509	ENST00000414043;ENST00000381311;ENST00000361571;ENST00000358183;ENST00000348066	T;T;T;T;T	0.32988	2.59;1.69;1.43;1.69;1.44	4.21	4.21	0.49690	.	0.650137	0.14274	N	0.329946	T	0.43853	0.1266	L	0.29908	0.895	0.39329	D	0.96537	B;D;D;B	0.76494	0.056;0.999;0.998;0.093	B;D;D;B	0.77004	0.003;0.989;0.976;0.005	T	0.44236	-0.9341	10	0.66056	D	0.02	-11.569	14.1245	0.65210	0.0:1.0:0.0:0.0	.	1178;1150;1155;1154	E7EWU5;O94983-3;O94983;O94983-4	.;.;CMTA2_HUMAN;.	H	1178;1150;1154;1148;1155	ENSP00000412886:R1178H;ENSP00000370712:R1150H;ENSP00000354828:R1154H;ENSP00000350910:R1148H;ENSP00000321813:R1155H	ENSP00000321813:R1155H	R	-	2	0	CAMTA2	4813175	0.123000	0.22298	0.440000	0.26846	0.760000	0.43138	1.943000	0.40253	2.189000	0.69895	0.563000	0.77884	CGC	CAMTA2	-	superfamily_P-loop_NTPase	ENSG00000108509		0.667	CAMTA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CAMTA2	HGNC	protein_coding	OTTHUMT00000216876.1	-	0.00	116	0	C	NM_015099		4872451	-1	tier1	-	no_errors	ENST00000414043	ensembl	human	known	74_37	missense	27.78	26	10	SNP	0.988	T
CAPN15	6650	genome.wustl.edu	37	16	601640	601640	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr16:601640G>T	ENST00000219611.2	+	9	2684	c.2321G>T	c.(2320-2322)tGg>tTg	p.W774L	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1	O75808	CAN15_HUMAN	calpain 15	774	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										GGTGTCTTCTGGATGGAGTAC	0.667																																																	0													40.0	48.0	45.0					16																	601640		2200	4296	6496	SO:0001583	missense	0			U85647	CCDS10410.1	16p13.3	2013-06-27	2013-06-27	2013-06-27	ENSG00000103326	ENSG00000103326			11182	protein-coding gene	gene with protein product		603267	"""small optic lobes (Drosophila) homolog"", ""small optic lobes homolog (Drosophila)"""	SOLH		9722942	Standard	NM_005632		Approved		uc002chi.3	O75808	OTTHUMG00000119059	ENST00000219611.2:c.2321G>T	16.37:g.601640G>T	ENSP00000219611:p.Trp774Leu		B1B1M4|Q2KHS2|Q8WTY9|Q9BUW0	Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Znf_RanBP2,smart_Znf_RanBP2,smart_Peptidase_C2_calpain_cat,pfscan_Znf_RanBP2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.W774L	ENST00000219611.2	37	c.2321	CCDS10410.1	16	.	.	.	.	.	.	.	.	.	.	g	28.2	4.897744	0.91962	.	.	ENSG00000103326	ENST00000219611	D	0.93189	-3.18	5.26	5.26	0.73747	Peptidase C2, calpain, catalytic domain (3);	0.000000	0.85682	D	0.000000	D	0.98277	0.9429	H	0.98786	4.33	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99816	1.1044	10	0.87932	D	0	.	17.4216	0.87516	0.0:0.0:1.0:0.0	.	774	O75808	CAN15_HUMAN	L	774	ENSP00000219611:W774L	ENSP00000219611:W774L	W	+	2	0	SOLH	541641	1.000000	0.71417	1.000000	0.80357	0.578000	0.36192	9.749000	0.98871	2.463000	0.83235	0.556000	0.70494	TGG	CAPN15	-	pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	ENSG00000103326		0.667	CAPN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPN15	HGNC	protein_coding	OTTHUMT00000239271.1	-	0.00	51	0	G	NM_005632		601640	+1	tier1	-	no_errors	ENST00000219611	ensembl	human	known	74_37	missense	21.43	11	3	SNP	1.000	T
CASP8	841	genome.wustl.edu	37	2	202141669	202141669	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr2:202141669G>T	ENST00000432109.2	+	8	969	c.780G>T	c.(778-780)agG>agT	p.R260S	CASP8_ENST00000264274.9_Intron|CASP8_ENST00000323492.7_Missense_Mutation_p.R245S|CASP8_ENST00000358485.4_Missense_Mutation_p.R319S|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000392258.3_3'UTR|CASP8_ENST00000264275.5_Missense_Mutation_p.R277S	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	260					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						TTAGGGACAGGAATGGAACAC	0.373										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)												0													81.0	72.0	75.0					2																	202141669		2203	4300	6503	SO:0001583	missense	0			U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"""Caspases"""	1509	protein-coding gene	gene with protein product		601763	"""caspase 8, apoptosis-related cysteine protease"""			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.780G>T	2.37:g.202141669G>T	ENSP00000412523:p.Arg260Ser		O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Missense_Mutation	SNP	pfam_DED,pfam_Pept_C14_caspase,superfamily_DEATH-like_dom,smart_DED,smart_Pept_C14A_p45_core,pfscan_DED,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core	p.R319S	ENST00000432109.2	37	c.957	CCDS2342.1	2	.	.	.	.	.	.	.	.	.	.	G	17.05	3.290678	0.59976	.	.	ENSG00000064012	ENST00000392263;ENST00000432109;ENST00000264275;ENST00000450491;ENST00000358485;ENST00000392261;ENST00000323492	T;T;T;T;T;T	0.68479	1.65;1.65;1.65;-0.33;1.65;1.65	5.49	-0.188	0.13264	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (1);Peptidase C14, ICE, catalytic subunit p20 (1);	0.109891	0.64402	D	0.000010	D	0.86347	0.5911	H	0.98786	4.33	0.58432	D	0.999998	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.998;1.0;0.999;0.999;1.0	D	0.84210	0.0455	10	0.87932	D	0	.	8.5531	0.33465	0.4662:0.0:0.5338:0.0	.	260;245;319;260;245;277	Q14790-7;A8MU92;Q14790-9;Q14790;Q14790-2;Q14790-4	.;.;.;CASP8_HUMAN;.;.	S	245;260;277;142;319;245;245	ENSP00000376091:R245S;ENSP00000412523:R260S;ENSP00000264275:R277S;ENSP00000391709:R142S;ENSP00000351273:R319S;ENSP00000325722:R245S	ENSP00000264275:R277S	R	+	3	2	CASP8	201849914	0.966000	0.33281	0.270000	0.24601	0.041000	0.13682	0.238000	0.18004	-0.355000	0.08199	-0.367000	0.07326	AGG	CASP8	-	pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pfscan_Pept_C14_ICE_p20	ENSG00000064012		0.373	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	CASP8	HGNC	protein_coding	OTTHUMT00000336853.2	-	0.00	32	0	G	NM_001228		202141669	+1	tier1	-	no_errors	ENST00000358485	ensembl	human	known	74_37	missense	7.04	66	5	SNP	0.543	T
CASP9	842	genome.wustl.edu	37	1	15833452	15833452	+	Missense_Mutation	SNP	C	C	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr1:15833452C>T	ENST00000333868.5	-	4	666	c.572G>A	c.(571-573)cGg>cAg	p.R191Q	CASP9_ENST00000546424.1_Missense_Mutation_p.R191Q|CASP9_ENST00000375890.4_Missense_Mutation_p.R108Q|CASP9_ENST00000348549.5_Intron	NM_001229.3	NP_001220.2	P55211	CASP9_HUMAN	caspase 9, apoptosis-related cysteine peptidase	191					activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|aging (GO:0007568)|apoptotic process (GO:0006915)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell apoptotic process (GO:0034349)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet formation (GO:0030220)|positive regulation of apoptotic process (GO:0043065)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of apoptotic process (GO:0042981)|regulation of response to DNA damage stimulus (GO:2001020)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|signal transduction in response to DNA damage (GO:0042770)	apoptosome (GO:0043293)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|enzyme activator activity (GO:0008047)|peptidase activity (GO:0008233)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|stomach(1)	18		Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655)		GAAGCGACGCCGCAACTTCTC	0.592																																																	0													108.0	105.0	106.0					1																	15833452		2203	4300	6503	SO:0001583	missense	0			U60521	CCDS158.1, CCDS159.1, CCDS159.2, CCDS59995.1	1p36.21	2012-04-17	2005-08-17		ENSG00000132906	ENSG00000132906		"""Caspases"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1511	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 56"""	602234	"""caspase 9, apoptosis-related cysteine protease"""			8663294, 9390557	Standard	NM_001229		Approved	MCH6, ICE-LAP6, APAF-3, PPP1R56	uc001awn.4	P55211	OTTHUMG00000002256	ENST00000333868.5:c.572G>A	1.37:g.15833452C>T	ENSP00000330237:p.Arg191Gln		B4E1A3|O95348|Q53Y70|Q5JRU9|Q5UGI1|Q92852|Q9BQ62|Q9UEQ3|Q9UIJ8	Missense_Mutation	SNP	pfam_Pept_C14_caspase,pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core	p.R191Q	ENST00000333868.5	37	c.572	CCDS158.1	1	.	.	.	.	.	.	.	.	.	.	C	0.841	-0.741974	0.03088	.	.	ENSG00000132906	ENST00000546424;ENST00000333868;ENST00000375874;ENST00000375890;ENST00000447522;ENST00000440484	T;T;T;T;T	0.20598	2.06;2.06;2.06;2.06;4.03	5.78	-3.96	0.04106	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (2);Peptidase C14, ICE, catalytic subunit p20 (1);	0.666573	0.16113	N	0.228991	T	0.08582	0.0213	N	0.05592	-0.015	0.09310	N	0.999999	B;B	0.09022	0.0;0.002	B;B	0.06405	0.001;0.002	T	0.33059	-0.9883	10	0.15066	T	0.55	.	12.8263	0.57721	0.0:0.5838:0.0:0.4162	.	191;191	P55211;F8VVS7	CASP9_HUMAN;.	Q	191;191;35;108;108;191	ENSP00000449584:R191Q;ENSP00000330237:R191Q;ENSP00000365051:R108Q;ENSP00000396540:R108Q;ENSP00000411304:R191Q	ENSP00000330237:R191Q	R	-	2	0	CASP9	15706039	0.795000	0.28851	0.001000	0.08648	0.016000	0.09150	0.897000	0.28390	-1.053000	0.03218	-1.149000	0.01842	CGG	CASP9	-	pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core	ENSG00000132906		0.592	CASP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASP9	HGNC	protein_coding	OTTHUMT00000006438.1	-	0.00	280	0	C	NM_032996		15833452	-1	tier1	-	no_errors	ENST00000333868	ensembl	human	known	74_37	missense	32.61	62	30	SNP	0.717	T
CATSPERD	257062	genome.wustl.edu	37	19	5757895	5757895	+	Silent	SNP	C	C	A			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr19:5757895C>A	ENST00000381624.3	+	14	1381	c.1320C>A	c.(1318-1320)acC>acA	p.T440T	CATSPERD_ENST00000381614.2_Silent_p.T98T|CATSPERD_ENST00000309164.7_3'UTR	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta	440					multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)											TCCAGGCCACCTTCTACGAGA	0.617																																																	0													63.0	66.0	65.0					19																	5757895		1993	4167	6160	SO:0001819	synonymous_variant	0			BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"""transmembrane protein 146"""	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036	ENST00000381624.3:c.1320C>A	19.37:g.5757895C>A			Q6ZRP1	Silent	SNP	superfamily_WD40_repeat_dom	p.T440	ENST00000381624.3	37	c.1320	CCDS12149.2	19																																																																																			CATSPERD	-	NULL	ENSG00000174898		0.617	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	CATSPERD	HGNC	protein_coding	OTTHUMT00000286953.2	-	0.00	139	0	C	NM_152784		5757895	+1	tier1	-	no_errors	ENST00000381624	ensembl	human	known	74_37	silent	8.33	44	4	SNP	0.000	A
CCDC13	152206	genome.wustl.edu	37	3	42787490	42787490	+	Silent	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr3:42787490G>T	ENST00000310232.6	-	7	833	c.750C>A	c.(748-750)atC>atA	p.I250I	CCDC13-AS1_ENST00000418161.1_RNA|CCDC13-AS1_ENST00000446950.1_RNA	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	250										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						GCTGAACGTTGATGTCTTCCC	0.522																																																	0													94.0	90.0	92.0					3																	42787490		2203	4300	6503	SO:0001819	synonymous_variant	0			AK058196	CCDS2705.1	3p22.1	2005-01-25			ENSG00000244607	ENSG00000244607			26358	protein-coding gene	gene with protein product						12477932	Standard	NM_144719		Approved	FLJ25467	uc003cly.4	Q8IYE1	OTTHUMG00000133046	ENST00000310232.6:c.750C>A	3.37:g.42787490G>T				Silent	SNP	superfamily_Prefoldin	p.I250	ENST00000310232.6	37	c.750	CCDS2705.1	3																																																																																			CCDC13	-	NULL	ENSG00000244607		0.522	CCDC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC13	HGNC	protein_coding	OTTHUMT00000256652.1		0.00	27	0	G	NM_144719		42787490	-1			no_errors	ENST00000310232	ensembl	human	known	74_37	silent	8.70	42	4	SNP	0.958	T
CCDC171	203238	genome.wustl.edu	37	9	15874582	15874582	+	Missense_Mutation	SNP	C	C	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr9:15874582C>T	ENST00000380701.3	+	24	3849	c.3521C>T	c.(3520-3522)aCc>aTc	p.T1174I	CCDC171_ENST00000486641.2_3'UTR|CCDC171_ENST00000297641.3_Missense_Mutation_p.T1174I	NM_173550.2	NP_775821.2	Q6TFL3	CC171_HUMAN	coiled-coil domain containing 171	1174																	AATGACTTCACCCTACAGCTA	0.493																																																	0													144.0	130.0	134.0					9																	15874582		2203	4300	6503	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.3521C>T	9.37:g.15874582C>T	ENSP00000370077:p.Thr1174Ile		B7ZM22|Q5SU58|Q6P1W1|Q6ZR13|Q8N1Z4|Q8N8L3|Q8TBR2	Missense_Mutation	SNP	superfamily_STAT_TF_coiled-coil	p.T1174I	ENST00000380701.3	37	c.3521	CCDS6481.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.47|16.47	3.133231|3.133231	0.56828|0.56828	.|.	.|.	ENSG00000164989|ENSG00000164989	ENST00000449575;ENST00000432954|ENST00000297641;ENST00000380689;ENST00000380701;ENST00000359391	.|T;T	.|0.15487	.|2.43;2.42	5.74|5.74	4.83|4.83	0.62350|0.62350	.|.	.|0.239502	.|0.35585	.|N	.|0.003109	T|T	0.13415|0.13415	0.0325|0.0325	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	D|D	1|1	.|P;P;P	.|0.43477	.|0.741;0.808;0.741	.|B;B;B	.|0.40940	.|0.344;0.245;0.344	T|T	0.04976|0.04976	-1.0914|-1.0914	5|10	.|0.72032	.|D	.|0.01	-1.0866|-1.0866	16.7546|16.7546	0.85496|0.85496	0.0:0.8709:0.1291:0.0|0.0:0.8709:0.1291:0.0	.|.	.|1182;441;1174	.|B7ZM22;A6NK04;Q6TFL3	.|.;.;CI093_HUMAN	S|I	414;228|1174;441;1174;28	.|ENSP00000297641:T1174I;ENSP00000370077:T1174I	.|ENSP00000297641:T1174I	P|T	+|+	1|2	0|0	C9orf93|C9orf93	15864582|15864582	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	3.015000|3.015000	0.49599|0.49599	1.406000|1.406000	0.46857|0.46857	0.644000|0.644000	0.83932|0.83932	CCC|ACC	CCDC171	-	NULL	ENSG00000164989		0.493	CCDC171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC171	HGNC	protein_coding	OTTHUMT00000051768.4	-	0.00	41	0	C	NM_173550		15874582	+1	tier1	-	no_errors	ENST00000380701	ensembl	human	known	74_37	missense	19.05	51	12	SNP	1.000	T
CCDC40	55036	genome.wustl.edu	37	17	78013765	78013765	+	Frame_Shift_Del	DEL	C	C	-	rs397515393		TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr17:78013765delC	ENST00000397545.4	+	3	275	c.248delC	c.(247-249)gctfs	p.A83fs	CCDC40_ENST00000374877.3_Frame_Shift_Del_p.A83fs|CCDC40_ENST00000269318.5_Frame_Shift_Del_p.A83fs|CCDC40_ENST00000374876.4_Frame_Shift_Del_p.A83fs	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	83					axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			gaagaggaggCTGTGTCCTAT	0.512																																																	0										1,3911		0,1,1955	65.0	69.0	68.0			-6.4	0.0	17		68	7,7991		0,7,3992	no	frameshift	CCDC40	NM_017950.3		0,8,5947	A1A1,A1R,RR		0.0875,0.0256,0.0672			78013765	8,11902	2026	4177	6203	SO:0001589	frameshift_variant	0			AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.248delC	17.37:g.78013765delC	ENSP00000380679:p.Ala83fs		A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Frame_Shift_Del	DEL	pfam_E3_ubiquit_lig_BRE1	p.A83fs	ENST00000397545.4	37	c.248	CCDS42395.1	17																																																																																			CCDC40	-	NULL	ENSG00000141519		0.512	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC40	HGNC	protein_coding	OTTHUMT00000256005.2		0.00	26	0	C	XM_371082		78013765	+1	tier1		no_errors	ENST00000397545	ensembl	human	known	74_37	frame_shift_del	67.27	18	37	DEL	0.000	-
CCDC80	151887	genome.wustl.edu	37	3	112357842	112357842	+	Missense_Mutation	SNP	G	G	A			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr3:112357842G>A	ENST00000206423.3	-	2	1864	c.911C>T	c.(910-912)cCa>cTa	p.P304L	CCDC80_ENST00000439685.2_Missense_Mutation_p.P304L|CCDC80_ENST00000475181.1_5'Flank	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	304					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						GCCCAGGCTTGGCCTTCCTGC	0.587																																																	0													121.0	108.0	112.0					3																	112357842		2203	4300	6503	SO:0001583	missense	0			AY333429	CCDS2968.1	3q13.2	2010-12-24			ENSG00000091986	ENSG00000091986			30649	protein-coding gene	gene with protein product	"""steroid sensitive gene 1"""	608298				15325258, 18178152	Standard	XM_005247135		Approved	URB, SSG1, DRO1	uc003dzf.3	Q76M96	OTTHUMG00000159265	ENST00000206423.3:c.911C>T	3.37:g.112357842G>A	ENSP00000206423:p.Pro304Leu		D3DN67|Q5PR20|Q6GPG9|Q8IVT6|Q8NBV1|Q8NHY8	Missense_Mutation	SNP	NULL	p.P304L	ENST00000206423.3	37	c.911	CCDS2968.1	3	.	.	.	.	.	.	.	.	.	.	G	3.853	-0.031458	0.07543	.	.	ENSG00000091986	ENST00000206423;ENST00000439685	T;T	0.44482	0.92;0.92	4.5	1.69	0.24217	.	0.756993	0.12460	N	0.466956	T	0.25531	0.0621	N	0.19112	0.55	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.18461	-1.0336	10	0.35671	T	0.21	-0.0096	7.4305	0.27124	0.0759:0.0:0.4988:0.4253	.	315;304;304	Q76M96-2;A3KC71;Q76M96	.;.;CCD80_HUMAN	L	304	ENSP00000206423:P304L;ENSP00000411814:P304L	ENSP00000206423:P304L	P	-	2	0	CCDC80	113840532	0.020000	0.18652	0.001000	0.08648	0.032000	0.12392	1.748000	0.38308	0.143000	0.18926	-1.426000	0.01102	CCA	CCDC80	-	NULL	ENSG00000091986		0.587	CCDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC80	HGNC	protein_coding	OTTHUMT00000354219.1	-	0.00	71	0	G	NM_199511		112357842	-1	tier1	-	no_errors	ENST00000206423	ensembl	human	known	74_37	missense	27.91	31	12	SNP	0.000	A
CCNC	892	genome.wustl.edu	37	6	99993014	99993014	+	Missense_Mutation	SNP	C	C	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr6:99993014C>T	ENST00000520429.1	-	11	1216	c.771G>A	c.(769-771)atG>atA	p.M257I	CCNC_ENST00000369220.4_Missense_Mutation_p.M256I|CCNC_ENST00000523985.1_Missense_Mutation_p.M172I|CCNC_ENST00000523799.1_Missense_Mutation_p.M172I|CCNC_ENST00000518714.1_Missense_Mutation_p.M257I|CCNC_ENST00000520371.1_Missense_Mutation_p.M257I	NM_001013399.1|NM_005190.3	NP_001013417.1|NP_005181.2	P24863	CCNC_HUMAN	cyclin C	257					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|mediator complex (GO:0016592)|nucleoplasm (GO:0005654)							all_cancers(76;8.46e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.064)		TTGGTTTTGGCATCTTACTAA	0.299																																					GBM(57;273 1020 40094 44454 49348)												0													178.0	169.0	172.0					6																	99993014		2202	4300	6502	SO:0001583	missense	0				CCDS34502.1, CCDS47461.1	6q21	2008-02-05			ENSG00000112237	ENSG00000112237			1581	protein-coding gene	gene with protein product		123838				1833066	Standard	XM_005267202		Approved	CycC	uc003pqe.3	P24863	OTTHUMG00000015268	ENST00000520429.1:c.771G>A	6.37:g.99993014C>T	ENSP00000428982:p.Met257Ile		B4DPZ1|Q9H543	Missense_Mutation	SNP	pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_CyclinC	p.M257I	ENST00000520429.1	37	c.771	CCDS34502.1	6	.	.	.	.	.	.	.	.	.	.	C	13.67	2.307769	0.40795	.	.	ENSG00000112237	ENST00000520429;ENST00000369220;ENST00000520371;ENST00000523799;ENST00000486428;ENST00000523985;ENST00000518714	T;T;T;T;T;T;T	0.28454	2.02;2.02;2.02;1.61;1.62;1.61;2.02	5.88	5.88	0.94601	Cyclin-like (1);	0.038098	0.85682	D	0.000000	T	0.15739	0.0379	L	0.35793	1.09	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.004	T	0.06023	-1.0850	9	.	.	.	-11.4171	20.2278	0.98344	0.0:1.0:0.0:0.0	.	257;257	Q7Z4L3;P24863	.;CCNC_HUMAN	I	257;256;257;172;203;172;257	ENSP00000428982:M257I;ENSP00000358222:M256I;ENSP00000430381:M257I;ENSP00000430014:M172I;ENSP00000430077:M203I;ENSP00000430119:M172I;ENSP00000430294:M257I	.	M	-	3	0	CCNC	100099735	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	7.814000	0.86154	2.759000	0.94783	0.650000	0.86243	ATG	CCNC	-	superfamily_Cyclin-like,pirsf_CyclinC	ENSG00000112237		0.299	CCNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCNC	HGNC	protein_coding	OTTHUMT00000041613.2		0.00	15	0	C	NM_005190		99993014	-1			no_errors	ENST00000520429	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	T
CD99L2	83692	genome.wustl.edu	37	X	149997814	149997814	+	Intron	SNP	T	T	A			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chrX:149997814T>A	ENST00000370377.3	-	2	248				CD99L2_ENST00000355149.3_Intron|CD99L2_ENST00000320893.6_Missense_Mutation_p.M132L|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000466436.1_Intron|CD99L2_ENST00000437787.2_Intron	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2						cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					ctaacaagcatctttgtaaga	0.433																																																	0																																										SO:0001627	intron_variant	0			BC030536	CCDS14697.1, CCDS14698.1, CCDS35427.1, CCDS55527.1, CCDS76044.1	Xq28	2007-12-04	2006-03-28	2003-02-14	ENSG00000102181	ENSG00000102181			18237	protein-coding gene	gene with protein product		300846	"""MIC2 like 1"", ""CD99 antigen-like 2"""	MIC2L1			Standard	NM_001184808		Approved	CD99B	uc004fek.3	Q8TCZ2	OTTHUMG00000024247	ENST00000370377.3:c.130+1889A>T	X.37:g.149997814T>A			A8K2D5|A8K5R0|B3KWG2|B4DDL7|E7EMK5|E9PD27|Q8TAW2|Q8TCZ0|Q8TCZ1|Q9BQG9	Missense_Mutation	SNP	NULL	p.M132L	ENST00000370377.3	37	c.394	CCDS35427.1	X	.	.	.	.	.	.	.	.	.	.	T	3.944	-0.013582	0.07727	.	.	ENSG00000102181	ENST00000320893	.	.	.	1.46	1.46	0.22682	.	.	.	.	.	T	0.25005	0.0607	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.20940	-1.0260	4	.	.	.	.	4.6157	0.12424	0.0:0.0:0.0:1.0	.	.	.	.	L	132	.	.	M	-	1	0	CD99L2	149748472	0.000000	0.05858	0.002000	0.10522	0.012000	0.07955	-0.054000	0.11826	0.837000	0.34925	0.356000	0.21956	ATG	CD99L2	-	NULL	ENSG00000102181		0.433	CD99L2-001	KNOWN	basic|CCDS	protein_coding	CD99L2	HGNC	protein_coding	OTTHUMT00000061199.1	-	0.00	8	0	T	NM_031462		149997814	-1	tier1	-	no_errors	ENST00000320893	ensembl	human	known	74_37	missense	85.71	3	18	SNP	0.002	A
CDH12	1010	genome.wustl.edu	37	5	21755816	21755816	+	Missense_Mutation	SNP	C	C	A			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr5:21755816C>A	ENST00000382254.1	-	14	2855	c.1769G>T	c.(1768-1770)tGt>tTt	p.C590F	RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000522262.1_Missense_Mutation_p.C550F|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Missense_Mutation_p.C590F	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	590	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.C590F(1)		NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						GTCACATCTACAGACTCGAAT	0.463										HNSCC(59;0.17)																																							1	Substitution - Missense(1)	large_intestine(1)											188.0	153.0	165.0					5																	21755816		2203	4300	6503	SO:0001583	missense	0			L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.1769G>T	5.37:g.21755816C>A	ENSP00000371689:p.Cys590Phe		B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.C590F	ENST00000382254.1	37	c.1769	CCDS3890.1	5	.	.	.	.	.	.	.	.	.	.	C	23.6	4.440626	0.83993	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.53423	0.62;0.62;0.62	5.56	5.56	0.83823	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.80768	0.4686	H	0.97077	3.935	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.87578	0.998;0.996	D	0.87094	0.2174	10	0.87932	D	0	.	19.5324	0.95234	0.0:1.0:0.0:0.0	.	550;590	B7Z2U6;P55289	.;CAD12_HUMAN	F	590;590;550	ENSP00000423577:C590F;ENSP00000371689:C590F;ENSP00000428786:C550F	ENSP00000371689:C590F	C	-	2	0	CDH12	21791573	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.471000	0.80985	2.619000	0.88677	0.460000	0.39030	TGT	CDH12	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000154162		0.463	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH12	HGNC	protein_coding	OTTHUMT00000207139.1		0.00	21	0	C	NM_004061		21755816	-1			no_errors	ENST00000382254	ensembl	human	known	74_37	missense	5.71	33	2	SNP	1.000	A
CDK1	983	genome.wustl.edu	37	10	62552031	62552031	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr10:62552031G>T	ENST00000395284.3	+	7	921	c.779G>T	c.(778-780)gGc>gTc	p.G260V	CDK1_ENST00000448257.2_Missense_Mutation_p.G260V|CDK1_ENST00000373809.2_Missense_Mutation_p.G203V|CDK1_ENST00000316629.4_Missense_Mutation_p.G203V	NM_001786.4	NP_001777.1	P06493	CDK1_HUMAN	cyclin-dependent kinase 1	260	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell aging (GO:0007569)|cell migration (GO:0016477)|cellular response to hydrogen peroxide (GO:0070301)|centrosome cycle (GO:0007098)|chromosome condensation (GO:0030261)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell differentiation (GO:0030855)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|MAPK cascade (GO:0000165)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|mitotic G2 DNA damage checkpoint (GO:0007095)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ regeneration (GO:0031100)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of DNA replication (GO:0045740)|positive regulation of gene expression (GO:0010628)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|pronuclear fusion (GO:0007344)|protein complex assembly (GO:0006461)|protein localization to kinetochore (GO:0034501)|Ras protein signal transduction (GO:0007265)|regulation of embryonic development (GO:0045995)|regulation of Schwann cell differentiation (GO:0014038)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to activity (GO:0014823)|response to amine (GO:0014075)|response to axon injury (GO:0048678)|response to cadmium ion (GO:0046686)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to organic cyclic compound (GO:0014070)|response to toxic substance (GO:0009636)|small GTPase mediated signal transduction (GO:0007264)|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)|ventricular cardiac muscle cell development (GO:0055015)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|midbody (GO:0030496)|mitochondrion (GO:0005739)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|histone kinase activity (GO:0035173)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			ovary(1)	1						GATGAAAATGGCTTGGATTTG	0.383																																																	0													95.0	94.0	94.0					10																	62552031		2203	4300	6503	SO:0001583	missense	0			BC014563	CCDS7260.1, CCDS44408.1	10q21.2	2011-11-08	2009-12-16	2009-12-16	ENSG00000170312	ENSG00000170312		"""Cyclin-dependent kinases"""	1722	protein-coding gene	gene with protein product		116940	"""cell division cycle 2, G1 to S and G2 to M"""	CDC2		3553962, 19884882	Standard	NM_001786		Approved	CDC28A	uc001jld.3	P06493	OTTHUMG00000018290	ENST00000395284.3:c.779G>T	10.37:g.62552031G>T	ENSP00000378699:p.Gly260Val		A8K7C4|C9J497|O60764	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.G260V	ENST00000395284.3	37	c.779	CCDS44408.1	10	.	.	.	.	.	.	.	.	.	.	G	22.3	4.266202	0.80358	.	.	ENSG00000170312	ENST00000395284;ENST00000316629;ENST00000448257;ENST00000373809	T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08	6.02	6.02	0.97574	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.046411	0.85682	D	0.000000	T	0.69886	0.3161	N	0.20401	0.57	0.80722	D	1	D;D;D	0.76494	0.981;0.999;0.996	P;D;D	0.72075	0.899;0.976;0.952	T	0.72978	-0.4127	10	0.87932	D	0	-19.6892	20.5407	0.99260	0.0:0.0:1.0:0.0	.	203;266;260	P06493-2;Q5H9N4;P06493	.;.;CDK1_HUMAN	V	260;203;260;203	ENSP00000378699:G260V;ENSP00000325970:G203V;ENSP00000397973:G260V;ENSP00000362915:G203V	ENSP00000325970:G203V	G	+	2	0	CDK1	62222037	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.904000	0.87408	2.865000	0.98341	0.655000	0.94253	GGC	CDK1	-	pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	ENSG00000170312		0.383	CDK1-007	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	CDK1	HGNC	protein_coding	OTTHUMT00000048211.2		0.00	20	0	G	NM_001786		62552031	+1			no_errors	ENST00000395284	ensembl	human	known	74_37	missense	5.56	68	4	SNP	1.000	T
CDK11B	984	genome.wustl.edu	37	1	1588836	1588836	+	Missense_Mutation	SNP	G	G	A			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr1:1588836G>A	ENST00000407249.3	-	1	99	c.100C>T	c.(100-102)Cgc>Tgc	p.R34C	CDK11B_ENST00000340677.5_Missense_Mutation_p.R34C|RP11-345P4.10_ENST00000607013.1_RNA|CDK11B_ENST00000317673.7_Missense_Mutation_p.R34C|CDK11B_ENST00000341832.6_5'Flank			P21127	CD11B_HUMAN	cyclin-dependent kinase 11B	34					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						TTTTTTAAGCGTTTTATCTCT	0.338																																																	0													80.0	67.0	71.0					1																	1588836		1791	4053	5844	SO:0001583	missense	0			AK000081	CCDS72682.1, CCDS72683.1, CCDS72684.1	1p36.33	2013-09-24	2009-12-16	2009-12-16	ENSG00000248333	ENSG00000248333		"""Cyclin-dependent kinases"""	1729	protein-coding gene	gene with protein product		176873	"""cell division cycle 2-like 1 (PITSLRE proteins)"""	CDC2L1		1774066, 14511641, 19884882	Standard	XM_006711061		Approved	CDK11-p110, CDK11-p58, CDK11-p46	uc001agv.1	P21127	OTTHUMG00000078638	ENST00000407249.3:c.100C>T	1.37:g.1588836G>A	ENSP00000464036:p.Arg34Cys		O95265|Q12817|Q12818|Q12819|Q12820|Q12822|Q8N530|Q9NZS5|Q9UBJ0|Q9UBQ1|Q9UBR0|Q9UNY2|Q9UP57|Q9UP58|Q9UP59	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.R34C	ENST00000407249.3	37	c.100		1																																																																																			CDK11B	-	NULL	ENSG00000248333		0.338	CDK11B-204	KNOWN	basic|appris_candidate_longest	protein_coding	CDK11B	HGNC	protein_coding		-	0.00	70	0	G	NM_001787		1588836	-1	tier1	-	no_errors	ENST00000407249	ensembl	human	known	74_37	missense	36.81	91	53	SNP	1.000	A
CDON	50937	genome.wustl.edu	37	11	125831850	125831850	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr11:125831850G>T	ENST00000392693.3	-	19	3527	c.3400C>A	c.(3400-3402)Cct>Act	p.P1134T	CDON_ENST00000531738.1_Missense_Mutation_p.P511T|CDON_ENST00000263577.7_Missense_Mutation_p.P1134T	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	1134					anterior/posterior pattern specification (GO:0009952)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cerebral cortex development (GO:0021987)|embryonic body morphogenesis (GO:0010172)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|lens development in camera-type eye (GO:0002088)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein heterodimerization activity (GO:0043497)|skeletal muscle satellite cell differentiation (GO:0014816)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		GGGACCACAGGAGGAGGGCTG	0.483																																																	0													69.0	69.0	69.0					11																	125831850		2201	4299	6500	SO:0001583	missense	0			AF004841	CCDS8468.1, CCDS58192.1	11q24.2	2013-02-11	2012-12-07		ENSG00000064309	ENSG00000064309		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17104	protein-coding gene	gene with protein product	"""cell adhesion molecule-related/down-regulated by oncogenes"""	608707	"""Cdon homolog (mouse)"""			9214393	Standard	NM_016952		Approved	ORCAM, CDO, CDON1	uc009zbw.3	Q4KMG0	OTTHUMG00000165862	ENST00000392693.3:c.3400C>A	11.37:g.125831850G>T	ENSP00000376458:p.Pro1134Thr		O14631	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.P1134T	ENST00000392693.3	37	c.3400	CCDS58192.1	11	.	.	.	.	.	.	.	.	.	.	G	12.83	2.054408	0.36277	.	.	ENSG00000064309	ENST00000392693;ENST00000531738;ENST00000263577	T;T;T	0.74421	-0.81;-0.16;-0.84	6.07	3.08	0.35506	.	0.264062	0.27236	N	0.020291	T	0.79551	0.4465	M	0.69823	2.125	0.38734	D	0.95374	D;D;P	0.61080	0.981;0.989;0.949	P;P;P	0.57324	0.662;0.818;0.548	T	0.80768	-0.1235	10	0.72032	D	0.01	-12.3677	7.7762	0.29039	0.1412:0.1332:0.7255:0.0	.	1134;1134;511	Q4KMG0;Q4KMG0-2;E9PN78	CDON_HUMAN;.;.	T	1134;511;1134	ENSP00000376458:P1134T;ENSP00000432901:P511T;ENSP00000263577:P1134T	ENSP00000263577:P1134T	P	-	1	0	CDON	125337060	1.000000	0.71417	0.037000	0.18230	0.014000	0.08584	4.168000	0.58216	0.903000	0.36546	0.655000	0.94253	CCT	CDON	-	NULL	ENSG00000064309		0.483	CDON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDON	HGNC	protein_coding	OTTHUMT00000386749.2		0.00	40	0	G	NM_016952		125831850	-1			no_errors	ENST00000392693	ensembl	human	known	74_37	missense	10.53	34	4	SNP	0.980	T
CELF6	60677	genome.wustl.edu	37	15	72580943	72580943	+	Silent	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr15:72580943G>T	ENST00000569547.1	-	10	1181	c.1110C>A	c.(1108-1110)gcC>gcA	p.A370A	CELF6_ENST00000539635.1_Silent_p.A231A|CELF6_ENST00000543764.2_Silent_p.A233A|RP11-106M3.3_ENST00000570175.1_RNA|CELF6_ENST00000569311.1_5'Flank|RP11-106M3.2_ENST00000379915.4_RNA|CELF6_ENST00000395258.2_Silent_p.A257A|CELF6_ENST00000567083.1_Intron|CELF6_ENST00000287202.5_Silent_p.A370A			Q96J87	CELF6_HUMAN	CUGBP, Elav-like family member 6	370					mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(2)	13						CTGGGGCATAGGCCGACGGAT	0.637																																																	0													63.0	66.0	65.0					15																	72580943		2199	4297	6496	SO:0001819	synonymous_variant	0			AF425606	CCDS10242.1, CCDS53955.1, CCDS53956.1	15q24	2013-02-12	2010-02-19	2010-02-19	ENSG00000140488	ENSG00000140488		"""RNA binding motif (RRM) containing"""	14059	protein-coding gene	gene with protein product		612681	"""Bruno (Drosophila) -like 6, RNA binding protein"", ""bruno-like 6, RNA binding protein (Drosophila)"""	BRUNOL6		10893231	Standard	NM_052840		Approved		uc002auh.2	Q96J87	OTTHUMG00000133444	ENST00000569547.1:c.1110C>A	15.37:g.72580943G>T			B4DG28|B4DJB6|Q6PII4|Q6ZNJ7|Q8N607	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.A370	ENST00000569547.1	37	c.1110	CCDS10242.1	15																																																																																			CELF6	-	NULL	ENSG00000273025		0.637	CELF6-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	CELF6	Uniprot_gn	protein_coding	OTTHUMT00000420180.1	-	0.00	59	0	G	NM_052840		72580943	-1	tier1	-	no_errors	ENST00000569547	ensembl	human	known	74_37	silent	14.81	23	4	SNP	0.998	T
CEP135	9662	genome.wustl.edu	37	4	56885519	56885519	+	Splice_Site	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr4:56885519G>T	ENST00000257287.4	+	23	3137	c.3013G>T	c.(3013-3015)Gtt>Ttt	p.V1005F		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	1005					centriole replication (GO:0007099)|centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)	protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					TTTCACGTAGGTTGTGGTGGA	0.318																																																	0													43.0	42.0	42.0					4																	56885519		2202	4300	6502	SO:0001630	splice_region_variant	0			AB014535	CCDS33986.1	4q12	2014-02-20	2005-12-02	2005-12-02	ENSG00000174799	ENSG00000174799			29086	protein-coding gene	gene with protein product		611423	"""KIAA0635"", ""centrosomal protein 4"""	KIAA0635, CEP4		9734811, 14654843	Standard	NM_025009		Approved	FLJ13621	uc003hbi.4	Q66GS9	OTTHUMG00000160748	ENST00000257287.4:c.3013-1G>T	4.37:g.56885519G>T			B2RMY0|O75130|Q58F25|Q9H8H7	Missense_Mutation	SNP	superfamily_Prefoldin,superfamily_EB1_C	p.V1005F	ENST00000257287.4	37	c.3013	CCDS33986.1	4	.	.	.	.	.	.	.	.	.	.	G	10.66	1.411281	0.25465	.	.	ENSG00000174799	ENST00000257287	T	0.14640	2.49	4.96	4.12	0.48240	.	0.336506	0.30410	N	0.009700	T	0.16981	0.0408	L	0.42245	1.32	0.43734	D	0.996228	P	0.35433	0.501	P	0.46076	0.503	T	0.05920	-1.0856	9	.	.	.	.	8.3265	0.32160	0.2387:0.0:0.7613:0.0	.	1005	Q66GS9	CP135_HUMAN	F	1005	ENSP00000257287:V1005F	.	V	+	1	0	CEP135	56580276	1.000000	0.71417	0.864000	0.33941	0.065000	0.16274	3.230000	0.51286	1.235000	0.43724	0.650000	0.86243	GTT	CEP135	-	NULL	ENSG00000174799		0.318	CEP135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP135	HGNC	protein_coding	OTTHUMT00000362092.2		0.00	22	0	G	NM_025009	Missense_Mutation	56885519	+1			no_errors	ENST00000257287	ensembl	human	known	74_37	missense	5.68	83	5	SNP	0.972	T
CFTR	1080	genome.wustl.edu	37	7	117199647	117199647	+	Missense_Mutation	SNP	T	T	A	rs121909001|rs199826652|rs113993960	byFrequency	TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr7:117199647T>A	ENST00000003084.6	+	11	1654	c.1522T>A	c.(1522-1524)Ttt>Att	p.F508I	CFTR_ENST00000454343.1_Missense_Mutation_p.F447I|AC000111.3_ENST00000441019.1_RNA	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	508	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.		F -> C (in dbSNP:rs1800093).|Missing (in CF and CBAVD; most common mutation; 72% of the population; CFTR fails to be properly delivered to plasma membrane).		cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	AAATATCATCTTTGGTGTTTC	0.363									Cystic Fibrosis																																								0													88.0	87.0	87.0					7																	117199647		2203	4129	6332	SO:0001583	missense	0	Familial Cancer Database	CF	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"""Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators"", ""ATP binding cassette transporters / subfamily C"""	1884	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family C, member 7"""	602421	"""cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"""	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.1522T>A	7.37:g.117199647T>A	ENSP00000003084:p.Phe508Ile		Q20BG8|Q20BH2|Q2I0A1|Q2I102	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_CysFib_conduc_TM,tigrfam_cAMP_cl_channel	p.F508I	ENST00000003084.6	37	c.1522	CCDS5773.1	7	.	.	.	.	.	.	.	.	.	.	T	26.8	4.774408	0.90108	.	.	ENSG00000001626	ENST00000003084;ENST00000454343;ENST00000426809	D;D;D	0.90504	-2.68;-2.68;-2.68	5.48	5.48	0.80851	ABC transporter, transmembrane domain, type 1 (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.95332	0.8485	M	0.79926	2.475	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.95885	0.8902	10	0.87932	D	0	-24.968	15.8605	0.79017	0.0:0.0:0.0:1.0	.	508	P13569	CFTR_HUMAN	I	508;447;478	ENSP00000003084:F508I;ENSP00000403677:F447I;ENSP00000389119:F478I	ENSP00000003084:F508I	F	+	1	0	CFTR	116986883	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.590000	0.82653	2.197000	0.70478	0.533000	0.62120	TTT	CFTR	-	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_cAMP_cl_channel	ENSG00000001626		0.363	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFTR	HGNC	protein_coding	OTTHUMT00000059397.3		0.00	8	0	T	NM_000492		117199647	+1			no_errors	ENST00000003084	ensembl	human	known	74_37	missense	10.71	23	3	SNP	1.000	A
CGNL1	84952	genome.wustl.edu	37	15	57753971	57753971	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr15:57753971G>T	ENST00000281282.5	+	8	2362	c.2284G>T	c.(2284-2286)Gcc>Tcc	p.A762S		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	762						myosin complex (GO:0016459)|tight junction (GO:0005923)	motor activity (GO:0003774)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		TGAACTCACCGCCCTGAAGGG	0.512																																																	0													98.0	95.0	96.0					15																	57753971		2192	4292	6484	SO:0001583	missense	0			AY274808	CCDS10161.1	15q21.3	2011-06-10			ENSG00000128849	ENSG00000128849			25931	protein-coding gene	gene with protein product		607856				11214970	Standard	NM_001252335		Approved	FLJ14957, JACOP, KIAA1749, paracingulin	uc002aeg.3	Q0VF96	OTTHUMG00000166485	ENST00000281282.5:c.2284G>T	15.37:g.57753971G>T	ENSP00000281282:p.Ala762Ser		Q05BZ4|Q52LR0|Q695C7|Q7Z2L3|Q96JV2|Q96MN6|Q9C0B4	Missense_Mutation	SNP	pfam_Myosin_tail,prints_Tropomyosin	p.A762S	ENST00000281282.5	37	c.2284	CCDS10161.1	15	.	.	.	.	.	.	.	.	.	.	G	24.3	4.511690	0.85389	.	.	ENSG00000128849	ENST00000281282	T	0.40756	1.02	5.52	5.52	0.82312	.	0.000000	0.53938	D	0.000043	T	0.46983	0.1421	M	0.67700	2.07	0.58432	D	0.999998	B	0.26876	0.162	B	0.25884	0.064	T	0.45190	-0.9278	10	0.56958	D	0.05	-11.3832	19.4354	0.94792	0.0:0.0:1.0:0.0	.	762	Q0VF96	CGNL1_HUMAN	S	762	ENSP00000281282:A762S	ENSP00000281282:A762S	A	+	1	0	CGNL1	55541263	1.000000	0.71417	0.950000	0.38849	0.770000	0.43624	9.397000	0.97276	2.608000	0.88229	0.448000	0.29417	GCC	CGNL1	-	NULL	ENSG00000128849		0.512	CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CGNL1	HGNC	protein_coding	OTTHUMT00000255482.2		0.00	31	0	G	NM_032866		57753971	+1			no_errors	ENST00000281282	ensembl	human	known	74_37	missense	11.76	30	4	SNP	1.000	T
CHL1	10752	genome.wustl.edu	37	3	439936	439936	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr3:439936G>T	ENST00000256509.2	+	25	3763	c.3121G>T	c.(3121-3123)Gta>Tta	p.V1041L	CHL1_ENST00000397491.2_Missense_Mutation_p.V1025L	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		GATATCAGGAGTAAATCTTAC	0.353																																																	0													67.0	65.0	66.0					3																	439936		2203	4300	6503	SO:0001583	missense	0			AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	1939	protein-coding gene	gene with protein product	"""neural cell adhesion molecule"", ""close homolog of L1"""	607416	"""cell adhesion molecule with homology to L1CAM (close homologue of L1)"", ""cell adhesion molecule with homology to L1CAM (close homolog of L1)"""			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.3121G>T	3.37:g.439936G>T	ENSP00000256509:p.Val1041Leu		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.V1041L	ENST00000256509.2	37	c.3121	CCDS2556.1	3	.	.	.	.	.	.	.	.	.	.	G	16.37	3.104819	0.56291	.	.	ENSG00000134121	ENST00000256509;ENST00000397491	T;T	0.61980	0.06;0.08	5.72	4.84	0.62591	.	0.306933	0.32244	N	0.006371	T	0.41971	0.1182	N	0.11560	0.145	0.37178	D	0.903373	P;B	0.36753	0.568;0.204	B;B	0.34093	0.175;0.046	T	0.52983	-0.8502	10	0.45353	T	0.12	.	13.0275	0.58823	0.0746:0.0:0.9254:0.0	.	1025;1041	O00533;O00533-2	CHL1_HUMAN;.	L	1041;1025	ENSP00000256509:V1041L;ENSP00000380628:V1025L	ENSP00000256509:V1041L	V	+	1	0	CHL1	414936	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.833000	0.39161	1.430000	0.47334	0.650000	0.86243	GTA	CHL1	-	NULL	ENSG00000134121		0.353	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHL1	HGNC	protein_coding	OTTHUMT00000207155.2		0.00	26	0	G	NM_006614		439936	+1			no_errors	ENST00000256509	ensembl	human	known	74_37	missense	5.26	72	4	SNP	1.000	T
CHMP7	91782	genome.wustl.edu	37	8	23104385	23104385	+	Silent	SNP	G	G	A			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr8:23104385G>A	ENST00000397677.1	+	2	825	c.177G>A	c.(175-177)ttG>ttA	p.L59L	CHMP7_ENST00000313219.7_Silent_p.L59L	NM_152272.3	NP_689485.1	Q8WUX9	CHMP7_HUMAN	charged multivesicular body protein 7	59					endosomal transport (GO:0016197)|late endosome to vacuole transport (GO:0045324)|membrane organization (GO:0061024)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|ESCRT III complex (GO:0000815)	protein transporter activity (GO:0008565)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11		Prostate(55;0.0513)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		GGGCGCCGTTGGTGCTGAGCC	0.667											OREG0018633	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													9.0	9.0	9.0					8																	23104385		2190	4283	6473	SO:0001819	synonymous_variant	0			BC019110	CCDS6040.1	8p21.2	2011-09-21	2011-09-21		ENSG00000147457	ENSG00000147457		"""Charged multivesicular body proteins"""	28439	protein-coding gene	gene with protein product		611130	"""CHMP family, member 7"""			16856878	Standard	NM_152272		Approved	MGC29816	uc003xdc.2	Q8WUX9	OTTHUMG00000131785	ENST00000397677.1:c.177G>A	8.37:g.23104385G>A		761	B2RDT3|B4DKJ6|D3DSS1|Q8NDM1|Q9BT50	Silent	SNP	pfam_Snf7	p.L59	ENST00000397677.1	37	c.177	CCDS6040.1	8																																																																																			CHMP7	-	NULL	ENSG00000147457		0.667	CHMP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHMP7	HGNC	protein_coding	OTTHUMT00000254717.1		0.00	106	0	G	NM_152272		23104385	+1			no_errors	ENST00000313219	ensembl	human	known	74_37	silent	5.17	55	3	SNP	1.000	A
CHRNA4	1137	genome.wustl.edu	37	20	61992443	61992443	+	Splice_Site	SNP	G	G	A			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr20:61992443G>A	ENST00000370263.4	-	1	296	c.75C>T	c.(73-75)cgC>cgT	p.R25R	RP11-261N11.8_ENST00000370257.1_RNA|CHRNA4_ENST00000463705.1_Intron	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	25					action potential (GO:0001508)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cognition (GO:0050890)|DNA repair (GO:0006281)|exploration behavior (GO:0035640)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|neurological system process (GO:0050877)|regulation of dopamine secretion (GO:0014059)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|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)|ligand-gated ion channel activity (GO:0015276)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Nicotine(DB00184)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)|Varenicline(DB01273)	GTAACTTACCGCGCAGGAGGC	0.731																																																	0													2.0	3.0	3.0					20																	61992443		1498	3134	4632	SO:0001630	splice_region_variant	0				CCDS13517.1	20q13.33	2013-09-20	2012-02-07		ENSG00000101204	ENSG00000101204		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1958	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 4 (neuronal)"""	118504	"""cholinergic receptor, nicotinic, alpha polypeptide 4"""	EBN, EBN1		1505988	Standard	NM_000744		Approved	BFNC	uc002yes.3	P43681	OTTHUMG00000033080	ENST00000370263.4:c.76+1C>T	20.37:g.61992443G>A			Q4JGR7|Q4VAQ5|Q4VAQ6	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.R25	ENST00000370263.4	37	c.75	CCDS13517.1	20																																																																																			CHRNA4	-	NULL	ENSG00000101204		0.731	CHRNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNA4	HGNC	protein_coding	OTTHUMT00000080508.3	-	0.00	21	0	G		Silent	61992443	-1	tier1	-	no_errors	ENST00000370263	ensembl	human	known	74_37	silent	94.12	1	16	SNP	0.030	A
CIDEB	27141	genome.wustl.edu	37	14	24777026	24777026	+	Silent	SNP	G	G	A			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr14:24777026G>A	ENST00000336557.5	-	4	1341	c.39C>T	c.(37-39)ctC>ctT	p.L13L	CIDEB_ENST00000554411.1_Silent_p.L13L|CIDEB_ENST00000258807.5_Silent_p.L13L|LTB4R2_ENST00000533293.1_5'Flank|LTB4R2_ENST00000528054.1_5'Flank|CIDEB_ENST00000555817.1_5'Flank|NOP9_ENST00000267425.3_3'UTR|LTB4R2_ENST00000543919.1_5'Flank			Q9UHD4	CIDEB_HUMAN	cell death-inducing DFFA-like effector b	13					apoptotic process (GO:0006915)|execution phase of apoptosis (GO:0097194)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|regulation of apoptotic process (GO:0042981)	cytosol (GO:0005829)|lipid particle (GO:0005811)	identical protein binding (GO:0042802)			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0181)		GCAGTCACCTGAGTAAGTCAC	0.567											OREG0022623	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													170.0	130.0	144.0					14																	24777026		2203	4300	6503	SO:0001819	synonymous_variant	0			AF190901	CCDS32056.1	14q12	2012-09-20			ENSG00000136305	ENSG00000136305			1977	protein-coding gene	gene with protein product		604441				10619428, 10837461	Standard	XM_005267540		Approved		uc001woo.3	Q9UHD4	OTTHUMG00000171555	ENST00000336557.5:c.39C>T	14.37:g.24777026G>A		774	D3DS73|Q546V8|Q9NNW9	Silent	SNP	pfam_CIDE-N_dom,smart_CIDE-N_dom,pfscan_CIDE-N_dom	p.L13	ENST00000336557.5	37	c.39	CCDS32056.1	14																																																																																			CIDEB	-	NULL	ENSG00000136305		0.567	CIDEB-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CIDEB	HGNC	protein_coding	OTTHUMT00000414120.1	-	0.00	57	0	G			24777026	-1	tier1	-	no_errors	ENST00000258807	ensembl	human	known	74_37	silent	47.83	24	22	SNP	0.999	A
CLCN1	1180	genome.wustl.edu	37	7	143027864	143027864	+	Splice_Site	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr7:143027864G>T	ENST00000343257.2	+	8	940		c.e8-1		CLCN1_ENST00000495612.1_Splice_Site	NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1						chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|neuronal action potential propagation (GO:0019227)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	adenyl nucleotide binding (GO:0030554)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					TGCCCCTGCAGGAGTGCTATT	0.532																																																	0													111.0	86.0	95.0					7																	143027864		2203	4300	6503	SO:0001630	splice_region_variant	0			Z25884	CCDS5881.1	7q12	2012-09-26	2012-02-23		ENSG00000188037	ENSG00000188037		"""Ion channels / Chloride channels : Voltage-sensitive"""	2019	protein-coding gene	gene with protein product	"""Thomsen disease, autosomal dominant"""	118425	"""chloride channel 1, skeletal muscle"""			1379744	Standard	NM_000083		Approved	CLC1, ClC-1	uc003wcr.1	P35523	OTTHUMG00000152695	ENST00000343257.2:c.854-1G>T	7.37:g.143027864G>T			A4D2H5|Q2M202	Splice_Site	SNP	-	e8-1	ENST00000343257.2	37	c.854-1	CCDS5881.1	7	.	.	.	.	.	.	.	.	.	.	G	13.77	2.336395	0.41398	.	.	ENSG00000188037	ENST00000343257	.	.	.	4.57	4.57	0.56435	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.355	0.87333	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CLCN1	142737986	1.000000	0.71417	0.777000	0.31699	0.261000	0.26267	9.831000	0.99420	2.087000	0.62958	0.453000	0.30009	.	CLCN1	-	-	ENSG00000188037		0.532	CLCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCN1	HGNC	protein_coding	OTTHUMT00000327420.1		0.00	36	0	G	NM_000083	Intron	143027864	+1			no_errors	ENST00000343257	ensembl	human	known	74_37	splice_site	5.13	37	2	SNP	1.000	T
CMSS1	84319	genome.wustl.edu	37	3	99886581	99886581	+	Splice_Site	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr3:99886581G>T	ENST00000421999.2	+	6	561		c.e6-1		CMSS1_ENST00000489081.1_Splice_Site	NM_032359.3	NP_115735.2	Q9BQ75	CMS1_HUMAN	cms1 ribosomal small subunit homolog (yeast)								poly(A) RNA binding (GO:0044822)										CTTTTTTCCAGTTTGTCCTAA	0.418																																																	0													153.0	158.0	156.0					3																	99886581		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS2935.1, CCDS54618.1	3q12.1	2012-09-20	2012-09-20	2012-09-20	ENSG00000184220	ENSG00000184220			28666	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 26"""	C3orf26		12477932	Standard	NM_032359		Approved	MGC4308	uc003dtl.3	Q9BQ75	OTTHUMG00000159054	ENST00000421999.2:c.416-1G>T	3.37:g.99886581G>T			A8K5S7|B4DUM1|E9PHS3	Splice_Site	SNP	-	e6-1	ENST00000421999.2	37	c.416-1	CCDS2935.1	3	.	.	.	.	.	.	.	.	.	.	G	13.87	2.366299	0.41902	.	.	ENSG00000184220	ENST00000421999;ENST00000489081;ENST00000478909;ENST00000497345	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2327	0.89939	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C3orf26	101369271	1.000000	0.71417	1.000000	0.80357	0.344000	0.29017	8.201000	0.89735	2.642000	0.89623	0.655000	0.94253	.	CMSS1	-	-	ENSG00000184220		0.418	CMSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMSS1	HGNC	protein_coding	OTTHUMT00000353060.1		0.00	19	0	G	NM_032359	Intron	99886581	+1			no_errors	ENST00000421999	ensembl	human	known	74_37	splice_site	9.09	30	3	SNP	1.000	T
COL2A1	1280	genome.wustl.edu	37	12	48391419	48391419	+	Silent	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr12:48391419G>T	ENST00000380518.3	-	7	665	c.501C>A	c.(499-501)ccC>ccA	p.P167P	COL2A1_ENST00000337299.6_Silent_p.P98P	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	167					axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	caggggggccgggaggaccag	0.562																																																	0													33.0	37.0	36.0					12																	48391419		2203	4300	6503	SO:0001819	synonymous_variant	0			X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"""Collagens"""	2200	protein-coding gene	gene with protein product		120140	"""collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)"", ""arthroophthalmopathy, progressive (Stickler syndrome)"""	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.501C>A	12.37:g.48391419G>T			A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Silent	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C	p.P167	ENST00000380518.3	37	c.501	CCDS41778.1	12																																																																																			COL2A1	-	pfam_Collagen	ENSG00000139219		0.562	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL2A1	HGNC	protein_coding	OTTHUMT00000313810.2	-	0.00	111	0	G	NM_001844		48391419	-1	tier1	-	no_errors	ENST00000380518	ensembl	human	known	74_37	silent	58.33	30	42	SNP	0.808	T
COPZ1	22818	genome.wustl.edu	37	12	54741805	54741805	+	Silent	SNP	C	C	A	rs546534354		TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr12:54741805C>A	ENST00000262061.2	+	7	454	c.417C>A	c.(415-417)ccC>ccA	p.P139P	COPZ1_ENST00000416254.2_Silent_p.P88P|COPZ1_ENST00000455864.2_Silent_p.P116P|COPZ1_ENST00000548753.1_Silent_p.P51P|COPZ1_ENST00000549043.1_Silent_p.P147P|COPZ1_ENST00000552218.1_Silent_p.P160P|COPZ1_ENST00000553231.1_Silent_p.P116P|COPZ1_ENST00000552362.1_Silent_p.P139P|COPZ1_ENST00000549116.1_Silent_p.P81P|COPZ1_ENST00000551779.1_Silent_p.P139P|COPZ1_ENST00000548281.1_3'UTR|RP11-968A15.8_ENST00000553061.1_RNA	NM_001271734.1|NM_001271736.1|NM_016057.1	NP_001258663.1|NP_001258665.1|NP_057141.1	P61923	COPZ1_HUMAN	coatomer protein complex, subunit zeta 1	139					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)		p.P139P(1)		kidney(1)|lung(4)	5						AGAGTGATCCCCAGCAGGTGG	0.527																																																	1	Substitution - coding silent(1)	lung(1)											142.0	136.0	138.0					12																	54741805		2203	4300	6503	SO:0001819	synonymous_variant	0			AF151878	CCDS8877.1, CCDS61137.1, CCDS61138.1, CCDS61139.1	12q13.2-q13.3	2008-02-05		2003-07-23					2243	protein-coding gene	gene with protein product		615472	"""coatomer protein complex, subunit zeta"""	COPZ			Standard	NM_001271734		Approved	CGI-120	uc009znm.2	P61923		ENST00000262061.2:c.417C>A	12.37:g.54741805C>A			B4DDX8|B4DHZ0|F8VS17|F8VWL5|Q549N6|Q9Y3C3	Silent	SNP	pfam_AP_mu_sigma_su,superfamily_Longin-like_dom	p.P139	ENST00000262061.2	37	c.417	CCDS8877.1	12																																																																																			COPZ1	-	pfam_AP_mu_sigma_su,superfamily_Longin-like_dom	ENSG00000111481		0.527	COPZ1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COPZ1	HGNC	protein_coding	OTTHUMT00000405753.1		0.00	47	0	C	NM_016057		54741805	+1			no_errors	ENST00000262061	ensembl	human	known	74_37	silent	8.82	31	3	SNP	0.984	A
CORO7	79585	genome.wustl.edu	37	16	4409313	4409313	+	Nonsense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr16:4409313G>T	ENST00000251166.4	-	23	2469	c.2324C>A	c.(2323-2325)tCg>tAg	p.S775*	CORO7-PAM16_ENST00000572467.1_Nonsense_Mutation_p.S775*|CORO7_ENST00000537233.2_Nonsense_Mutation_p.S757*|CORO7-PAM16_ENST00000572274.1_5'UTR|CORO7_ENST00000574025.1_Nonsense_Mutation_p.S690*|CORO7_ENST00000539968.1_Nonsense_Mutation_p.S555*	NM_024535.4	NP_078811.3	P57737	CORO7_HUMAN	coronin 7	775					actin filament polymerization (GO:0030041)|Golgi to endosome transport (GO:0006895)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)			breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						GGGGTCAGGCGACGTGAAGCT	0.657											OREG0023580	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													50.0	43.0	45.0					16																	4409313		2194	4298	6492	SO:0001587	stop_gained	0			AK097238	CCDS10513.1, CCDS55982.1, CCDS58417.1	16p13.3	2013-01-10			ENSG00000262246	ENSG00000262246		"""Coronins"", ""WD repeat domain containing"""	26161	protein-coding gene	gene with protein product		611668				15327992	Standard	NM_024535		Approved	FLJ22021		P57737	OTTHUMG00000129465	ENST00000251166.4:c.2324C>A	16.37:g.4409313G>T	ENSP00000251166:p.Ser775*	618	B4DFD6|B4DL18|I3L416|Q17RK4	Nonsense_Mutation	SNP	pfam_DUF1900,pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S775*	ENST00000251166.4	37	c.2324	CCDS10513.1	16	.	.	.	.	.	.	.	.	.	.	G	44	10.823892	0.99473	.	.	ENSG00000103426	ENST00000251166;ENST00000537233;ENST00000539968	.	.	.	5.72	5.72	0.89469	.	1.138180	0.06484	N	0.733411	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.1459	19.4755	0.94985	0.0:0.0:1.0:0.0	.	.	.	.	X	775;690;555	.	ENSP00000251166:S775X	S	-	2	0	CORO7	4349314	1.000000	0.71417	0.027000	0.17364	0.003000	0.03518	8.765000	0.91724	2.704000	0.92352	0.655000	0.94253	TCG	CORO7-PAM16	-	pfam_DUF1900	ENSG00000103426		0.657	CORO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CORO7-PAM16	HGNC	protein_coding	OTTHUMT00000251628.2	-	0.00	90	0	G	NM_024535		4409313	-1	tier1	-	no_errors	ENST00000572467	ensembl	human	known	74_37	nonsense	8.16	45	4	SNP	0.986	T
CPN1	1369	genome.wustl.edu	37	10	101808606	101808606	+	Missense_Mutation	SNP	A	A	G			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr10:101808606A>G	ENST00000370418.3	-	8	1390	c.1139T>C	c.(1138-1140)cTg>cCg	p.L380P		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	380					response to glucocorticoid (GO:0051384)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		ACCTGGAAGCAGCAGCCGGAA	0.463																																																	0													135.0	114.0	122.0					10																	101808606		2203	4300	6503	SO:0001583	missense	0			X14329	CCDS7486.1	10q24.2	2012-02-10	2007-02-23		ENSG00000120054	ENSG00000120054	3.4.17.3		2312	protein-coding gene	gene with protein product	"""anaphylatoxin inactivator"", ""arginine carboxypeptidase"", ""carboxypeptidase K"", ""kininase I"", ""lysine carboxypeptidase"""	603103	"""carboxypeptidase N, polypeptide 1, 50kD"""			9628828, 2912725	Standard	NM_001308		Approved		uc001kql.2	P15169	OTTHUMG00000018896	ENST00000370418.3:c.1139T>C	10.37:g.101808606A>G	ENSP00000359446:p.Leu380Pro		B1AP59	Missense_Mutation	SNP	pfam_Peptidase_M14,pfam_DUF2817,superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14,prints_Peptidase_M14	p.L380P	ENST00000370418.3	37	c.1139	CCDS7486.1	10	.	.	.	.	.	.	.	.	.	.	A	23.0	4.360604	0.82353	.	.	ENSG00000120054	ENST00000370418;ENST00000441382	T;T	0.59083	0.29;0.29	5.5	5.5	0.81552	Peptidase M14, carboxypeptidase A (1);Carboxypeptidase-like, regulatory domain (1);Carboxypeptidase, regulatory domain (1);	0.153474	0.44097	D	0.000493	D	0.85168	0.5635	H	0.98542	4.26	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90828	0.4714	10	0.87932	D	0	-11.3079	14.6282	0.68638	1.0:0.0:0.0:0.0	.	380	P15169	CBPN_HUMAN	P	380;177	ENSP00000359446:L380P;ENSP00000410895:L177P	ENSP00000359446:L380P	L	-	2	0	CPN1	101798596	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	8.013000	0.88655	2.097000	0.63578	0.524000	0.50904	CTG	CPN1	-	superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14	ENSG00000120054		0.463	CPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPN1	HGNC	protein_coding	OTTHUMT00000049828.1		0.00	48	0	A	NM_001308		101808606	-1			no_errors	ENST00000370418	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	G
CPZ	8532	genome.wustl.edu	37	4	8620212	8620212	+	Silent	SNP	C	C	T	rs111747511	byFrequency	TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr4:8620212C>T	ENST00000360986.4	+	10	1734	c.1560C>T	c.(1558-1560)aaC>aaT	p.N520N	CPZ_ENST00000382480.2_Silent_p.N383N|CPZ_ENST00000429646.2_Silent_p.N128N|CPZ_ENST00000315782.6_Silent_p.N509N	NM_001014447.2	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	520					proteolysis (GO:0006508)|Wnt signaling pathway (GO:0016055)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CAGTCAAAAACGCCCGGATCT	0.592																																																	0													117.0	102.0	107.0					4																	8620212		2203	4300	6503	SO:0001819	synonymous_variant	0			U83411	CCDS3404.1, CCDS33953.1, CCDS43212.1	4p16.1	2012-02-10			ENSG00000109625	ENSG00000109625			2333	protein-coding gene	gene with protein product	"""metallocarboxypeptidase Z"""	603105				9099699	Standard	NM_001014447		Approved		uc003glm.3	Q66K79	OTTHUMG00000090513	ENST00000360986.4:c.1560C>T	4.37:g.8620212C>T			O00520|Q96MX2	Silent	SNP	pfam_Peptidase_M14,pfam_Frizzled_dom,superfamily_Frizzled_dom,superfamily_CarboxyPept-like_regulatory,smart_Frizzled_dom,smart_Peptidase_M14,prints_Peptidase_M14,pfscan_Frizzled_dom	p.N520	ENST00000360986.4	37	c.1560	CCDS33953.1	4																																																																																			CPZ	-	superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14	ENSG00000109625		0.592	CPZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CPZ	HGNC	protein_coding	OTTHUMT00000207001.4	-	0.00	107	0	C	NM_003652		8620212	+1	tier1	rs111747511	no_errors	ENST00000360986	ensembl	human	known	74_37	silent	34.68	81	43	SNP	0.869	T
CRHR1	1394	genome.wustl.edu	37	17	43898768	43898768	+	Missense_Mutation	SNP	G	G	A	rs375123636		TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr17:43898768G>A	ENST00000398285.3	+	4	289	c.289G>A	c.(289-291)Gtg>Atg	p.V97M	CRHR1_ENST00000352855.5_Missense_Mutation_p.V57M|CRHR1_ENST00000314537.5_Missense_Mutation_p.V97M|CRHR1_ENST00000293493.7_5'UTR|CRHR1_ENST00000577353.1_Missense_Mutation_p.V97M|CRHR1_ENST00000339069.5_Intron	NM_001145146.1	NP_001138618.1	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	97					activation of adenylate cyclase activity (GO:0007190)|adrenal gland development (GO:0030325)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|behavioral response to pain (GO:0048266)|cellular response to corticotropin-releasing hormone stimulus (GO:0071376)|corticotropin secretion (GO:0051458)|epithelial cell differentiation (GO:0030855)|fear response (GO:0042596)|female pregnancy (GO:0007565)|general adaptation syndrome, behavioral process (GO:0051867)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neuron death (GO:1901215)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neuropeptide signaling pathway (GO:0007218)|parturition (GO:0007567)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mast cell degranulation (GO:0043306)|regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010578)|regulation of corticosterone secretion (GO:2000852)|response to hypoxia (GO:0001666)|response to immobilization stress (GO:0035902)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|vesicle (GO:0031982)	corticotrophin-releasing factor receptor activity (GO:0015056)|corticotropin-releasing hormone binding (GO:0051424)|corticotropin-releasing hormone receptor activity (GO:0043404)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		GGCCGCCCGCGTGAATTACTC	0.632																																					Ovarian(110;57 1568 10207 38216 49865)												0								G	MET/VAL,MET/VAL,MET/VAL,MET/VAL	1,3941		0,1,1970	50.0	56.0	54.0		289,169,289,289	4.8	1.0	17		54	0,8324		0,0,4162	no	missense,missense,missense,missense	CRHR1	NM_001145146.1,NM_001145147.1,NM_001145148.1,NM_004382.4	21,21,21,21	0,1,6132	AA,AG,GG		0.0,0.0254,0.0082	benign,benign,benign,benign	97/445,57/376,97/402,97/416	43898768	1,12265	1971	4162	6133	SO:0001583	missense	0			L23332	CCDS42350.1, CCDS45712.1, CCDS45713.1, CCDS45714.1	17q12-q22	2012-08-14			ENSG00000120088	ENSG00000120088		"""GPCR / Class B : Corticotropin-releasing factor receptors"""	2357	protein-coding gene	gene with protein product	"""corticotropin-releasing factor receptor"""	122561		CRHR		7590738	Standard	NM_004382		Approved	CRF-R, CRF1	uc010dap.3	P34998		ENST00000398285.3:c.289G>A	17.37:g.43898768G>A	ENSP00000381333:p.Val97Met		B4DIE9|Q13008|Q4QRJ1|Q9UK64	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_CRF_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_CRF1_rcpt,prints_GPCR_2_diuretic_rcpt	p.V97M	ENST00000398285.3	37	c.289	CCDS45712.1	17	.	.	.	.	.	.	.	.	.	.	G	12.75	2.030586	0.35797	2.54E-4	0.0	ENSG00000120088	ENST00000398285;ENST00000314537;ENST00000347197;ENST00000352855	T;T;T;T	0.63096	-0.02;-0.02;-0.02;1.1	4.84	4.84	0.62591	GPCR, family 2, extracellular hormone receptor domain (3);	0.065057	0.64402	D	0.000016	T	0.58004	0.2092	N	0.11255	0.115	0.80722	D	1	B;D;B;B	0.65815	0.385;0.995;0.268;0.171	B;P;B;B	0.56788	0.04;0.806;0.027;0.027	T	0.64368	-0.6424	10	0.52906	T	0.07	.	15.8349	0.78791	0.0:0.0:1.0:0.0	.	97;97;57;97	P34998-4;P34998;P34998-3;P34998-2	.;CRFR1_HUMAN;.;.	M	97;97;97;57	ENSP00000381333:V97M;ENSP00000326060:V97M;ENSP00000239167:V97M;ENSP00000344068:V57M	ENSP00000326060:V97M	V	+	1	0	CRHR1	41254549	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	4.587000	0.60991	2.677000	0.91161	0.655000	0.94253	GTG	CRHR1	-	pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,prints_GPCR_2_CRF_rcpt,prints_GPCR_2_diuretic_rcpt	ENSG00000120088		0.632	CRHR1-001	KNOWN	basic|CCDS	protein_coding	CRHR1	HGNC	protein_coding	OTTHUMT00000441241.3	-	0.00	250	0	G			43898768	+1	tier1	-	no_errors	ENST00000398285	ensembl	human	known	74_37	missense	21.05	105	28	SNP	0.999	A
CSMD3	114788	genome.wustl.edu	37	8	113347567	113347567	+	Missense_Mutation	SNP	T	T	G			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr8:113347567T>G	ENST00000297405.5	-	45	7400	c.7156A>C	c.(7156-7158)Agt>Cgt	p.S2386R	CSMD3_ENST00000352409.3_Missense_Mutation_p.S2316R|CSMD3_ENST00000343508.3_Missense_Mutation_p.S2346R|CSMD3_ENST00000455883.2_Missense_Mutation_p.S2282R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2386	CUB 13. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S2386C(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CCGTGATAACTGAGCACAAAA	0.343										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							1	Substitution - Missense(1)	large_intestine(1)											92.0	89.0	90.0					8																	113347567		2203	4300	6503	SO:0001583	missense	0			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.7156A>C	8.37:g.113347567T>G	ENSP00000297405:p.Ser2386Arg		Q96PZ3	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.S2386R	ENST00000297405.5	37	c.7156	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	T	17.79	3.476826	0.63849	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.59364	0.27;0.27;0.27;0.27;0.27	4.68	4.68	0.58851	CUB (4);	0.260360	0.38436	N	0.001692	T	0.47154	0.1430	N	0.03115	-0.41	0.53005	D	0.999966	B;B;P	0.49783	0.016;0.02;0.928	B;B;P	0.55391	0.017;0.044;0.775	T	0.51865	-0.8651	10	0.26408	T	0.33	.	14.5693	0.68202	0.0:0.0:0.0:1.0	.	2282;2386;2346	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	R	2346;2386;1656;2282;2316	ENSP00000345799:S2346R;ENSP00000297405:S2386R;ENSP00000341558:S1656R;ENSP00000412263:S2282R;ENSP00000343124:S2316R	ENSP00000297405:S2386R	S	-	1	0	CSMD3	113416743	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	4.825000	0.62708	2.094000	0.63399	0.477000	0.44152	AGT	CSMD3	-	superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000164796		0.343	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1		0.00	23	0	T	NM_052900		113347567	-1			no_errors	ENST00000297405	ensembl	human	known	74_37	missense	6.25	120	8	SNP	1.000	G
CSTL1	128817	genome.wustl.edu	37	20	23420862	23420862	+	De_novo_Start_InFrame	SNP	C	C	A	rs192471702	byFrequency	TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr20:23420862C>A	ENST00000347397.1	+	0	204				CSTL1_ENST00000246020.2_5'Flank|CSTL1_ENST00000472140.1_3'UTR	NM_138283.1	NP_612140.1	Q9H114	CST1L_HUMAN	cystatin-like 1							extracellular region (GO:0005576)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(2)|endometrium(2)|large_intestine(3)|lung(4)|skin(2)|stomach(1)	14	Colorectal(13;0.0993)|Lung NSC(19;0.235)					ACCACCACACCCTGGAAGGTG	0.542																																																	0													51.0	44.0	46.0					20																	23420862		2203	4300	6503			0			AL096677	CCDS13153.1	20p11.21	2012-08-14			ENSG00000125823	ENSG00000125823			15958	protein-coding gene	gene with protein product						20565543	Standard	NM_138283		Approved	dJ322G13.4, CTES1	uc002wte.3	Q9H114	OTTHUMG00000032068		20.37:g.23420862C>A			Q17RA8|Q64FF7	RNA	SNP	-	NULL	ENST00000347397.1	37	NULL	CCDS13153.1	20																																																																																			CSTL1	-	-	ENSG00000125823		0.542	CSTL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CSTL1	HGNC	protein_coding		-	0.00	36	0	C			23420862	+1	tier1	-	no_errors	ENST00000472140	ensembl	human	known	74_37	rna	8.33	44	4	SNP	0.000	A
CTAGE1	64693	genome.wustl.edu	37	18	19996488	19996488	+	5'Flank	SNP	T	T	C			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr18:19996488T>C	ENST00000525417.1	-	0	0				CTAGE1_ENST00000391403.2_Silent_p.A429A			Q9HC47	CTGE1_HUMAN	cutaneous T-cell lymphoma-associated antigen 1							integral component of membrane (GO:0016021)				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					AATTATCATGTGCTTTTTTCT	0.343																																																	0													58.0	65.0	62.0					18																	19996488		2115	4274	6389	SO:0001631	upstream_gene_variant	0			AF177229	CCDS45837.1	18q11.2	2010-05-26			ENSG00000212710	ENSG00000212710			24346	protein-coding gene	gene with protein product	"""cutaneous T-cell lymphoma-associated antigen 1"", ""cutaneous T-cell lymphoma-associated antigen 2"", ""cancer/testis antigen family 21, member 1"", ""cancer/testis antigen family 21, member 2"""	608856				11149944, 12839582	Standard	NM_172241		Approved	cTAGE-1, cTAGE-2, CTAGE, CT21.1, CT21.2	uc002ktv.1	Q96RT6			18.37:g.19996488T>C	Exception_encountered		B0YIZ3	Silent	SNP	NULL	p.A429	ENST00000525417.1	37	c.1287		18																																																																																			CTAGE1	-	NULL	ENSG00000212710		0.343	CTAGE1-002	KNOWN	basic|appris_candidate	protein_coding	CTAGE1	HGNC	protein_coding	OTTHUMT00000386767.1	-	0.00	42	0	T	NM_022663, NM_172241		19996488	-1	tier1	-	no_errors	ENST00000391403	ensembl	human	known	74_37	silent	20.95	83	22	SNP	0.785	C
CTNNA3	29119	genome.wustl.edu	37	10	69281668	69281668	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr10:69281668G>T	ENST00000433211.2	-	5	685	c.511C>A	c.(511-513)Cag>Aag	p.Q171K	CTNNA3_ENST00000373744.4_Missense_Mutation_p.Q171K|CTNNA3_ENST00000545309.1_Missense_Mutation_p.Q171K	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						TAGGTTTTCTGGAGGTCAGAT	0.408																																																	0													108.0	107.0	107.0					10																	69281668		2203	4300	6503	SO:0001583	missense	0			AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.511C>A	10.37:g.69281668G>T	ENSP00000389714:p.Gln171Lys			Missense_Mutation	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin	p.Q171K	ENST00000433211.2	37	c.511	CCDS7269.1	10	.	.	.	.	.	.	.	.	.	.	G	5.169	0.216661	0.09810	.	.	ENSG00000183230	ENST00000433211;ENST00000373744;ENST00000545309;ENST00000330298;ENST00000540598	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	5.19	4.28	0.50868	.	0.000000	0.49916	D	0.000134	T	0.29355	0.0731	L	0.34521	1.04	0.27101	N	0.96262	B;B;B;B	0.20052	0.0;0.001;0.026;0.041	B;B;B;B	0.28385	0.001;0.003;0.089;0.016	T	0.25012	-1.0144	10	0.06099	T	0.92	-10.6348	11.1157	0.48259	0.0:0.0:0.8151:0.1849	.	171;171;171;171	A8K141;F2Z2R0;Q9UI47-2;Q9UI47	.;.;.;CTNA3_HUMAN	K	171	ENSP00000389714:Q171K;ENSP00000362849:Q171K;ENSP00000441444:Q171K;ENSP00000330570:Q171K	ENSP00000330570:Q171K	Q	-	1	0	CTNNA3	68951674	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	3.093000	0.50217	1.174000	0.42811	0.467000	0.42956	CAG	CTNNA3	-	pfam_Vinculin/catenin,superfamily_Vinculin/catenin	ENSG00000183230		0.408	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNNA3	HGNC	protein_coding	OTTHUMT00000048282.2		0.00	17	0	G	NM_013266		69281668	-1			no_errors	ENST00000373744	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	T
PIEZO1	9780	genome.wustl.edu	37	16	88779039	88779039	+	IGR	SNP	C	C	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr16:88779039C>T	ENST00000301015.9	-	0	8072				CTU2_ENST00000453996.2_Silent_p.L155L|CTU2_ENST00000567949.1_Silent_p.L226L|CTU2_ENST00000378384.3_Silent_p.L68L|CTU2_ENST00000312060.5_Silent_p.L155L	NM_001142864.2	NP_001136336.2	Q92508	PIEZ1_HUMAN	piezo-type mechanosensitive ion channel component 1						cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|detection of mechanical stimulus (GO:0050982)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|positive regulation of integrin activation (GO:0033625)|regulation of membrane potential (GO:0042391)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|prostate(2)|skin(1)	10						GGTGTTCAGCCTGCCACCGTC	0.682																																																	0													27.0	34.0	32.0					16																	88779039		2198	4296	6494	SO:0001628	intergenic_variant	0			D87071	CCDS54058.1	16q24.3	2011-08-31	2011-08-31	2011-08-31	ENSG00000103335	ENSG00000103335			28993	protein-coding gene	gene with protein product		611184	"""family with sequence similarity 38, member A"""	FAM38A		20813920, 21056836, 21299953, 21696149	Standard	NM_001142864		Approved	KIAA0233	uc010vpb.2	Q92508	OTTHUMG00000156776		16.37:g.88779039C>T			A6NHT9|A7E2B7|Q0KKZ9	Silent	SNP	pfam_Thiouridylase_cyt_su2	p.L226	ENST00000301015.9	37	c.676	CCDS54058.1	16																																																																																			CTU2	-	NULL	ENSG00000174177		0.682	PIEZO1-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	CTU2	HGNC	protein_coding	OTTHUMT00000345699.4	-	0.00	162	0	C	NM_014745		88779039	+1	tier1	-	no_errors	ENST00000567949	ensembl	human	known	74_37	silent	25.37	50	17	SNP	0.574	T
CUL1	8454	genome.wustl.edu	37	7	148487454	148487454	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr7:148487454G>T	ENST00000325222.4	+	16	2006	c.1727G>T	c.(1726-1728)gGc>gTc	p.G576V	CUL1_ENST00000602748.1_Missense_Mutation_p.G576V|CUL1_ENST00000409469.1_Missense_Mutation_p.G576V	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	576					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|SCF ubiquitin ligase complex (GO:0019005)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			CGCCACAGTGGCCGAAAATTG	0.393																																																	0													89.0	87.0	88.0					7																	148487454		2203	4300	6503	SO:0001583	missense	0			U58087	CCDS34772.1	7q36.1	2011-05-24			ENSG00000055130	ENSG00000055130			2551	protein-coding gene	gene with protein product		603134				8681378	Standard	NM_003592		Approved		uc003wey.3	Q13616	OTTHUMG00000152776	ENST00000325222.4:c.1727G>T	7.37:g.148487454G>T	ENSP00000326804:p.Gly576Val		D3DWG3|O60719|Q08AL6|Q8IYW1	Missense_Mutation	SNP	pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.G576V	ENST00000325222.4	37	c.1727	CCDS34772.1	7	.	.	.	.	.	.	.	.	.	.	G	24.6	4.546500	0.86022	.	.	ENSG00000055130	ENST00000409469;ENST00000325222;ENST00000543583;ENST00000433865	T;T	0.78364	-1.17;-1.17	5.07	5.07	0.68467	Cullin, N-terminal (1);Cullin homology (3);	0.000000	0.85682	D	0.000000	D	0.92609	0.7652	H	0.97611	4.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.994	D	0.95303	0.8405	10	0.87932	D	0	-19.1619	18.4658	0.90753	0.0:0.0:1.0:0.0	.	503;576	E7EWR0;Q13616	.;CUL1_HUMAN	V	576;576;534;503	ENSP00000387160:G576V;ENSP00000326804:G576V	ENSP00000326804:G576V	G	+	2	0	CUL1	148118387	1.000000	0.71417	0.984000	0.44739	0.759000	0.43091	9.538000	0.98072	2.359000	0.80004	0.655000	0.94253	GGC	CUL1	-	pfam_Cullin_N,superfamily_Cullin_homology,smart_Cullin_homology,pfscan_Cullin_homology	ENSG00000055130		0.393	CUL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CUL1	HGNC	protein_coding	OTTHUMT00000467785.1		0.00	25	0	G	NM_003592		148487454	+1			no_errors	ENST00000325222	ensembl	human	known	74_37	missense	6.25	60	4	SNP	1.000	T
DAAM1	23002	genome.wustl.edu	37	14	59819347	59819347	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr14:59819347G>T	ENST00000395125.1	+	18	2317	c.2294G>T	c.(2293-2295)aGc>aTc	p.S765I	DAAM1_ENST00000351081.1_Missense_Mutation_p.S765I|DAAM1_ENST00000360909.3_Missense_Mutation_p.S755I|DAAM1_ENST00000553966.1_3'UTR	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	765	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		TTTGAGATGAGCCGGTGAGTT	0.398																																																	0													116.0	103.0	107.0					14																	59819347		2203	4300	6503	SO:0001583	missense	0			AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.2294G>T	14.37:g.59819347G>T	ENSP00000378557:p.Ser765Ile		Q86U34|Q8N1Z8|Q8TB39	Missense_Mutation	SNP	pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,superfamily_tRNA-bd_arm,smart_FH2_Formin	p.S765I	ENST00000395125.1	37	c.2294	CCDS9737.1	14	.	.	.	.	.	.	.	.	.	.	G	31	5.091547	0.94149	.	.	ENSG00000100592	ENST00000360909;ENST00000351081;ENST00000358498;ENST00000395125	T;T;T	0.18502	2.21;2.21;2.21	6.04	6.04	0.98038	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	D	0.000000	T	0.50548	0.1622	M	0.85777	2.775	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.51156	-0.8741	10	0.66056	D	0.02	.	20.5948	0.99439	0.0:0.0:1.0:0.0	.	755;765	Q9Y4D1-2;Q9Y4D1	.;DAAM1_HUMAN	I	755;765;765;765	ENSP00000354162:S755I;ENSP00000247170:S765I;ENSP00000378557:S765I	ENSP00000247170:S765I	S	+	2	0	DAAM1	58889100	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	9.845000	0.99498	2.873000	0.98535	0.563000	0.77884	AGC	DAAM1	-	pfam_FH2_Formin,smart_FH2_Formin	ENSG00000100592		0.398	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DAAM1	HGNC	protein_coding	OTTHUMT00000276942.2		0.00	35	0	G	NM_014992		59819347	+1			no_errors	ENST00000351081	ensembl	human	known	74_37	missense	5.56	68	4	SNP	1.000	T
DAGLA	747	genome.wustl.edu	37	11	61511391	61511391	+	Silent	SNP	G	G	A			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr11:61511391G>A	ENST00000257215.5	+	20	2675	c.2559G>A	c.(2557-2559)acG>acA	p.T853T	RP11-467L20.10_ENST00000536405.1_lincRNA	NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	853					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		CACAGGACACGCAGCCCCTGG	0.672																																																	0													66.0	78.0	74.0					11																	61511391		2155	4222	6377	SO:0001819	synonymous_variant	0			AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"""neural stem cell-derived dendrite regulator"""	614015	"""chromosome 11 open reading frame 11"""	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.2559G>A	11.37:g.61511391G>A			A7E233|Q6WQJ0	Silent	SNP	pfam_Lipase_3	p.T853	ENST00000257215.5	37	c.2559	CCDS31578.1	11																																																																																			DAGLA	-	NULL	ENSG00000134780		0.672	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAGLA	HGNC	protein_coding	OTTHUMT00000398516.1		0.00	20	0	G	NM_006133		61511391	+1			no_errors	ENST00000257215	ensembl	human	known	74_37	silent	27.27	8	3	SNP	0.963	A
DBNDD2	55861	genome.wustl.edu	37	20	44036812	44036812	+	Intron	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr20:44036812G>T	ENST00000372720.3	+	2	390				SYS1-DBNDD2_ENST00000452133.1_Intron|TP53TG5_ENST00000494455.1_5'Flank|DBNDD2_ENST00000372712.2_Intron|DBNDD2_ENST00000372723.3_Intron|DBNDD2_ENST00000357275.2_Intron|DBNDD2_ENST00000372722.3_Intron|DBNDD2_ENST00000360981.4_Intron|SYS1-DBNDD2_ENST00000475242.1_Intron|DBNDD2_ENST00000372717.1_Intron|DBNDD2_ENST00000372710.3_Missense_Mutation_p.W4L	NM_018478.3	NP_060948.3	Q9BQY9	DBND2_HUMAN	dysbindin (dystrobrevin binding protein 1) domain containing 2						negative regulation of protein kinase activity (GO:0006469)	cytoplasm (GO:0005737)				breast(1)|lung(2)	3		Myeloproliferative disorder(115;0.0122)				ATGGAGAGTTGGGCATTGGCT	0.547																																																	0																																										SO:0001627	intron_variant	0			AF220191	CCDS42880.1, CCDS42881.1, CCDS56193.1, CCDS56194.1	20q13.12	2007-07-23	2006-04-04	2006-04-04	ENSG00000244274	ENSG00000244274			15881	protein-coding gene	gene with protein product		611453	"""chromosome 20 open reading frame 35"""	C20orf35			Standard	NM_001048225		Approved	HSMNP1	uc002xof.3	Q9BQY9	OTTHUMG00000032576	ENST00000372720.3:c.160-161G>T	20.37:g.44036812G>T			Q331S6|Q5QPV4|Q5QPV6|Q9BQZ0|Q9BVL1|Q9H1F6|Q9NWZ0|Q9NY07|Q9NZ31	Missense_Mutation	SNP	pfam_Dysbindin	p.W4L	ENST00000372720.3	37	c.11	CCDS56193.1	20	.	.	.	.	.	.	.	.	.	.	G	13.49	2.253104	0.39797	.	.	ENSG00000244274	ENST00000372710	T	0.33865	1.39	3.4	1.39	0.22231	.	1.436320	0.04731	N	0.421160	T	0.21631	0.0521	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.31223	-0.9951	8	0.87932	D	0	.	4.9461	0.13991	0.1213:0.2163:0.6624:0.0	.	.	.	.	L	4	ENSP00000361795:W4L	ENSP00000361795:W4L	W	+	2	0	DBNDD2	43470226	0.001000	0.12720	0.001000	0.08648	0.003000	0.03518	0.435000	0.21510	0.443000	0.26582	-0.181000	0.13052	TGG	DBNDD2	-	NULL	ENSG00000244274		0.547	DBNDD2-001	KNOWN	basic|CCDS	protein_coding	DBNDD2	HGNC	protein_coding	OTTHUMT00000079438.1	-	0.00	64	0	G	NM_018478		44036812	+1	tier1	-	no_errors	ENST00000372710	ensembl	human	putative	74_37	missense	6.15	61	4	SNP	0.001	T
DCSTAMP	81501	genome.wustl.edu	37	8	105367335	105367335	+	Silent	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr8:105367335G>T	ENST00000297581.2	+	3	1309	c.1260G>T	c.(1258-1260)ctG>ctT	p.L420L	DCSTAMP_ENST00000520080.1_3'UTR|DCSTAMP_ENST00000517991.1_Intron|DPYS_ENST00000521601.1_Intron	NM_030788.3	NP_110415.1	Q9H295	DCSTP_HUMAN	dendrocyte expressed seven transmembrane protein	420					cellular response to interleukin-4 (GO:0071353)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to tumor necrosis factor (GO:0071356)|membrane fusion (GO:0061025)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cell growth (GO:0030308)|osteoclast differentiation (GO:0030316)|osteoclast fusion (GO:0072675)|positive regulation of bone resorption (GO:0045780)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of monocyte differentiation (GO:0045657)	cell surface (GO:0009986)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)											TCCAATATCTGCATGCAAAGC	0.463																																																	0													102.0	103.0	103.0					8																	105367335		2203	4300	6503	SO:0001819	synonymous_variant	0			AF305068	CCDS6301.1, CCDS59111.1	8q22.3	2012-08-10	2012-03-27	2012-03-27	ENSG00000164935	ENSG00000164935			18549	protein-coding gene	gene with protein product	"""Dendritic cells (DC)-specific transmembrane protein"", ""IL-Four INDuced"""	605933	"""transmembrane 7 superfamily member 4"""	TM7SF4		11169400, 11345591	Standard	NM_030788		Approved	DC-STAMP, FIND	uc003ylx.2	Q9H295	OTTHUMG00000164890	ENST00000297581.2:c.1260G>T	8.37:g.105367335G>T			B7ZVW2|E7ESG0|Q2M2D5	Silent	SNP	pfam_DC_STAMP-like,superfamily_ABC1_TM_dom	p.L420	ENST00000297581.2	37	c.1260	CCDS6301.1	8																																																																																			DCSTAMP	-	pfam_DC_STAMP-like,superfamily_ABC1_TM_dom	ENSG00000164935		0.463	DCSTAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCSTAMP	HGNC	protein_coding	OTTHUMT00000380810.1		0.00	18	0	G	NM_030788		105367335	+1			no_errors	ENST00000297581	ensembl	human	known	74_37	silent	9.30	39	4	SNP	0.155	T
DDX10	1662	genome.wustl.edu	37	11	108788750	108788750	+	Intron	SNP	G	G	A			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr11:108788750G>A	ENST00000322536.3	+	17	2579				DDX10_ENST00000526794.1_Missense_Mutation_p.V819I	NM_004398.2	NP_004389.2	Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10						metabolic process (GO:0008152)		ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		AATAAGGTATGTTTTTACTAT	0.333			T	NUP98	AML*																																			Dom	yes		11	11q22-q23	1662	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10		L	0													80.0	87.0	85.0					11																	108788750		2201	4298	6499	SO:0001627	intron_variant	0			U28042	CCDS8342.1	11q22-q23	2005-10-11	2003-06-13		ENSG00000178105	ENSG00000178105		"""DEAD-boxes"""	2735	protein-coding gene	gene with protein product		601235	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 10 (RNA helicase)"""			8660968	Standard	NM_004398		Approved	HRH-J8	uc001pkm.3	Q13206	OTTHUMG00000166540	ENST00000322536.3:c.2450+5G>A	11.37:g.108788750G>A			B2RCQ3|Q5BJD8	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.V819I	ENST00000322536.3	37	c.2455	CCDS8342.1	11	.	.	.	.	.	.	.	.	.	.	G	8.990	0.977591	0.18812	.	.	ENSG00000178105	ENST00000526794	T	0.40476	1.03	5.66	5.66	0.87406	.	.	.	.	.	T	0.42854	0.1221	.	.	.	0.22017	N	0.999418	P	0.51351	0.944	B	0.44315	0.446	T	0.37126	-0.9719	7	.	.	.	.	17.6144	0.88064	0.0:0.0:1.0:0.0	.	819	E9PIF2	.	I	819	ENSP00000432032:V819I	.	V	+	1	0	DDX10	108293960	1.000000	0.71417	0.999000	0.59377	0.008000	0.06430	1.362000	0.34148	2.832000	0.97577	0.655000	0.94253	GTT	DDX10	-	NULL	ENSG00000178105		0.333	DDX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX10	HGNC	protein_coding	OTTHUMT00000390343.1	-	0.00	13	0	G	NM_004398		108788750	+1	tier1	-	no_errors	ENST00000526794	ensembl	human	putative	74_37	missense	53.85	12	14	SNP	1.000	A
DECR2	26063	genome.wustl.edu	37	16	455532	455532	+	Intron	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr16:455532G>T	ENST00000219481.5	+	2	287				DECR2_ENST00000424398.2_Intron|DECR2_ENST00000397710.1_Nonsense_Mutation_p.G57*	NM_020664.3	NP_065715.1	Q9NUI1	DECR2_HUMAN	2,4-dienoyl CoA reductase 2, peroxisomal						unsaturated fatty acid biosynthetic process (GO:0006636)	peroxisomal membrane (GO:0005778)	2,4-dienoyl-CoA reductase (NADPH) activity (GO:0008670)|receptor binding (GO:0005102)|trans-2-enoyl-CoA reductase (NADPH) activity (GO:0019166)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)	9		Hepatocellular(16;0.00015)				GGACCAGATGGGACATTGCAG	0.542																																																	0																																										SO:0001627	intron_variant	0			AJ293009	CCDS10409.1	16p13.3	2011-09-14			ENSG00000242612	ENSG00000242612	1.3.1.34	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	2754	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 17C, member 1"""	615839				11514237, 19027726	Standard	NM_020664		Approved	PDCR, SDR17C1	uc002chb.3	Q9NUI1	OTTHUMG00000047846	ENST00000219481.5:c.149+508G>T	16.37:g.455532G>T			Q6ZRS7|Q96ET0	Nonsense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR	p.G57*	ENST00000219481.5	37	c.169	CCDS10409.1	16	.	.	.	.	.	.	.	.	.	.	G	12.19	1.864604	0.32977	.	.	ENSG00000242612	ENST00000397710	.	.	.	1.86	-1.86	0.07760	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	2.5521	0.04751	0.1891:0.0:0.364:0.4468	.	.	.	.	X	57	.	ENSP00000380822:G57X	G	+	1	0	DECR2	395533	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	0.661000	0.25023	-0.480000	0.06803	0.655000	0.94253	GGA	DECR2	-	NULL	ENSG00000242612		0.542	DECR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DECR2	HGNC	protein_coding	OTTHUMT00000109069.4	-	0.00	107	0	G	NM_020664		455532	+1	tier1	-	no_errors	ENST00000397710	ensembl	human	known	74_37	nonsense	46.55	31	27	SNP	0.000	T
DEPDC5	9681	genome.wustl.edu	37	22	32241198	32241198	+	Missense_Mutation	SNP	G	G	T	rs201245740		TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr22:32241198G>T	ENST00000382112.3	+	29	3039	c.2969G>T	c.(2968-2970)cGg>cTg	p.R990L	DEPDC5_ENST00000400248.2_Missense_Mutation_p.R990L|DEPDC5_ENST00000400249.2_Missense_Mutation_p.R990L|DEPDC5_ENST00000266091.3_Missense_Mutation_p.R999L|DEPDC5_ENST00000382105.2_Missense_Mutation_p.R921L|DEPDC5_ENST00000535622.1_Missense_Mutation_p.R921L|DEPDC5_ENST00000400246.1_Missense_Mutation_p.R999L|DEPDC5_ENST00000382111.2_Missense_Mutation_p.R999L	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	999					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						ATTCGCAGGCGGCATCGCTCG	0.607																																																	0													46.0	51.0	49.0					22																	32241198		2133	4243	6376	SO:0001583	missense	0			AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.2969G>T	22.37:g.32241198G>T	ENSP00000371546:p.Arg990Leu		A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Missense_Mutation	SNP	pfam_IML1,pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom	p.R999L	ENST00000382112.3	37	c.2996	CCDS46692.1	22	.	.	.	.	.	.	.	.	.	.	G	24.7	4.563617	0.86335	.	.	ENSG00000100150	ENST00000535622;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000400246;ENST00000382105;ENST00000382112;ENST00000382111;ENST00000400248	T;T;T;T;T;T;T;T	0.33216	1.46;1.89;1.89;1.87;1.42;1.88;1.87;1.89	5.27	4.25	0.50352	.	0.062112	0.64402	D	0.000003	T	0.40767	0.1130	L	0.29908	0.895	0.80722	D	1	D;D;D;B;D;D	0.71674	0.998;0.998;0.998;0.068;0.998;0.997	D;D;D;B;D;D	0.85130	0.997;0.992;0.994;0.03;0.991;0.987	T	0.10941	-1.0608	10	0.27082	T	0.32	.	12.9601	0.58453	0.0779:0.0:0.9221:0.0	.	320;999;921;999;990;990	B4DSS1;B9EGN9;B4DH93;O75140-4;A8MPX9;O75140	.;.;.;.;.;DEPD5_HUMAN	L	921;999;990;921;999;921;990;999;990	ENSP00000440210:R921L;ENSP00000266091:R999L;ENSP00000383108:R990L;ENSP00000383105:R999L;ENSP00000371539:R921L;ENSP00000371546:R990L;ENSP00000371545:R999L;ENSP00000383107:R990L	ENSP00000266091:R999L	R	+	2	0	DEPDC5	30571198	1.000000	0.71417	0.982000	0.44146	0.894000	0.52154	7.172000	0.77604	1.248000	0.43934	0.558000	0.71614	CGG	DEPDC5	-	NULL	ENSG00000100150		0.607	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	DEPDC5	HGNC	protein_coding	OTTHUMT00000129087.1		0.00	67	0	G	NM_014662		32241198	+1			no_errors	ENST00000266091	ensembl	human	known	74_37	missense	8.70	21	2	SNP	1.000	T
DMD	1756	genome.wustl.edu	37	X	32486681	32486681	+	Silent	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chrX:32486681G>T	ENST00000357033.4	-	23	3302	c.3096C>A	c.(3094-3096)ctC>ctA	p.L1032L	DMD_ENST00000378677.2_Silent_p.L1028L	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1032					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GCTGGGAGGAGAGCTTCTTCC	0.408																																																	0													69.0	61.0	64.0					X																	32486681		2202	4300	6502	SO:0001819	synonymous_variant	0			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.3096C>A	X.37:g.32486681G>T			E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Silent	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ	p.L1032	ENST00000357033.4	37	c.3096	CCDS14233.1	X																																																																																			DMD	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin	ENSG00000198947		0.408	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2	-	0.00	10	0	G	NM_004006		32486681	-1	tier1	-	no_errors	ENST00000357033	ensembl	human	known	74_37	silent	80.00	2	8	SNP	0.001	T
DMXL1	1657	genome.wustl.edu	37	5	118469070	118469070	+	Missense_Mutation	SNP	G	G	A			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr5:118469070G>A	ENST00000311085.8	+	11	1639	c.1559G>A	c.(1558-1560)cGt>cAt	p.R520H	DMXL1_ENST00000539542.1_Missense_Mutation_p.R520H	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	520								p.R520H(1)		breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		GGTATGTTTCGTCAAGTACAG	0.358																																																	1	Substitution - Missense(1)	endometrium(1)											213.0	212.0	213.0					5																	118469070		2202	4300	6502	SO:0001583	missense	0			AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.1559G>A	5.37:g.118469070G>A	ENSP00000309690:p.Arg520His			Missense_Mutation	SNP	pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R520H	ENST00000311085.8	37	c.1559	CCDS4125.1	5	.	.	.	.	.	.	.	.	.	.	G	18.64	3.668194	0.67814	.	.	ENSG00000172869	ENST00000503802;ENST00000311085;ENST00000539542	T;T;T	0.65549	-0.16;-0.16;-0.16	5.57	5.57	0.84162	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.66915	0.2838	M	0.73962	2.25	0.80722	D	1	D;D	0.62365	0.991;0.968	B;B	0.42593	0.392;0.37	T	0.74503	-0.3644	10	0.87932	D	0	-15.3527	19.5465	0.95299	0.0:0.0:1.0:0.0	.	520;520	F5H269;Q9Y485	.;DMXL1_HUMAN	H	520	ENSP00000427692:R520H;ENSP00000309690:R520H;ENSP00000439479:R520H	ENSP00000309690:R520H	R	+	2	0	DMXL1	118496969	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.476000	0.97823	2.643000	0.89663	0.591000	0.81541	CGT	DMXL1	-	superfamily_WD40_repeat_dom	ENSG00000172869		0.358	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMXL1	HGNC	protein_coding	OTTHUMT00000250862.1		0.00	11	0	G	NM_005509		118469070	+1			no_errors	ENST00000539542	ensembl	human	known	74_37	missense	9.09	20	2	SNP	1.000	A
DMXL2	23312	genome.wustl.edu	37	15	51791379	51791379	+	Missense_Mutation	SNP	G	G	A			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr15:51791379G>A	ENST00000251076.5	-	18	4329	c.4042C>T	c.(4042-4044)Cat>Tat	p.H1348Y	DMXL2_ENST00000449909.3_Intron|RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_Missense_Mutation_p.H1348Y	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1348						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TGAGTTGGATGATATTGTGGA	0.388																																																	0													79.0	76.0	77.0					15																	51791379		2195	4293	6488	SO:0001583	missense	0			AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.4042C>T	15.37:g.51791379G>A	ENSP00000251076:p.His1348Tyr		B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.H1348Y	ENST00000251076.5	37	c.4042	CCDS10141.1	15	.	.	.	.	.	.	.	.	.	.	G	20.2	3.951301	0.73787	.	.	ENSG00000104093	ENST00000251076;ENST00000543779	T;T	0.49432	0.78;0.78	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.74935	0.3782	M	0.87547	2.89	0.80722	D	1	D;D	0.89917	1.0;0.994	D;D	0.87578	0.998;0.977	T	0.78858	-0.2038	10	0.87932	D	0	.	19.736	0.96205	0.0:0.0:1.0:0.0	.	1348;1348	F5GWF1;Q8TDJ6	.;DMXL2_HUMAN	Y	1348	ENSP00000251076:H1348Y;ENSP00000441858:H1348Y	ENSP00000251076:H1348Y	H	-	1	0	DMXL2	49578671	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.441000	0.97557	2.669000	0.90835	0.591000	0.81541	CAT	DMXL2	-	NULL	ENSG00000104093		0.388	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	DMXL2	HGNC	protein_coding	OTTHUMT00000254671.2	-	0.00	23	0	G	NM_015263		51791379	-1	tier1	-	no_errors	ENST00000543779	ensembl	human	known	74_37	missense	26.76	52	19	SNP	1.000	A
DNAH10	196385	genome.wustl.edu	37	12	124398985	124398985	+	Missense_Mutation	SNP	C	C	T	rs369076491		TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr12:124398985C>T	ENST00000409039.3	+	60	10133	c.10108C>T	c.(10108-10110)Cgt>Tgt	p.R3370C		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3370					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CTGGGAGTTCCGTGACGAGAT	0.607																																																	0								C	CYS/ARG	0,4084		0,0,2042	61.0	68.0	65.0		10108	5.3	1.0	12		65	1,8391		0,1,4195	no	missense	DNAH10	NM_207437.3	180	0,1,6237	TT,TC,CC		0.0119,0.0,0.0080	probably-damaging	3370/4472	124398985	1,12475	2042	4196	6238	SO:0001583	missense	0			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.10108C>T	12.37:g.124398985C>T	ENSP00000386770:p.Arg3370Cys		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase	p.R3370C	ENST00000409039.3	37	c.10108	CCDS9255.2	12	.	.	.	.	.	.	.	.	.	.	C	21.1	4.101676	0.76983	0.0	1.19E-4	ENSG00000197653	ENST00000409039	T	0.81163	-1.46	5.28	5.28	0.74379	Dynein heavy chain, coiled coil stalk (1);	0.000000	0.85682	D	0.000000	D	0.94029	0.8087	H	0.98068	4.14	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96221	0.9160	10	0.87932	D	0	.	18.9088	0.92474	0.0:1.0:0.0:0.0	.	3370	Q8IVF4	DYH10_HUMAN	C	3370	ENSP00000386770:R3370C	ENSP00000386770:R3370C	R	+	1	0	DNAH10	122964938	1.000000	0.71417	0.997000	0.53966	0.542000	0.35054	6.147000	0.71783	2.449000	0.82847	0.561000	0.74099	CGT	DNAH10	-	NULL	ENSG00000197653		0.607	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH10	HGNC	protein_coding	OTTHUMT00000335420.3	-	0.00	65	0	C			124398985	+1	tier1	-	no_errors	ENST00000409039	ensembl	human	known	74_37	missense	45.45	24	20	SNP	1.000	T
DNAH7	56171	genome.wustl.edu	37	2	196673506	196673506	+	Missense_Mutation	SNP	C	C	A			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr2:196673506C>A	ENST00000312428.6	-	53	10083	c.9983G>T	c.(9982-9984)tGg>tTg	p.W3328L		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3328					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TATTTCATCCCAGGATTTCTG	0.398																																																	0													112.0	103.0	106.0					2																	196673506		1881	4114	5995	SO:0001583	missense	0			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.9983G>T	2.37:g.196673506C>A	ENSP00000311273:p.Trp3328Leu		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom	p.W3328L	ENST00000312428.6	37	c.9983	CCDS42794.1	2	.	.	.	.	.	.	.	.	.	.	C	28.3	4.907429	0.92107	.	.	ENSG00000118997	ENST00000312428	T	0.10005	2.92	5.12	5.12	0.69794	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.52677	0.1749	H	0.98370	4.215	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72956	-0.4134	10	0.87932	D	0	.	18.342	0.90308	0.0:1.0:0.0:0.0	.	3328	Q8WXX0	DYH7_HUMAN	L	3328	ENSP00000311273:W3328L	ENSP00000311273:W3328L	W	-	2	0	DNAH7	196381751	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.176000	0.77643	2.655000	0.90218	0.563000	0.77884	TGG	DNAH7	-	pfam_Dynein_heavy_dom	ENSG00000118997		0.398	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH7	HGNC	protein_coding	OTTHUMT00000335202.3		0.00	15	0	C	NM_018897		196673506	-1			no_errors	ENST00000312428	ensembl	human	known	74_37	missense	8.00	46	4	SNP	1.000	A
DNAH7	56171	genome.wustl.edu	37	2	196718134	196718134	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr2:196718134G>T	ENST00000312428.6	-	46	8814	c.8714C>A	c.(8713-8715)aCt>aAt	p.T2905N		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2905					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GATATCCCCAGTCAAGTTGAT	0.502																																																	0													121.0	119.0	120.0					2																	196718134		2001	4183	6184	SO:0001583	missense	0			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.8714C>A	2.37:g.196718134G>T	ENSP00000311273:p.Thr2905Asn		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom	p.T2905N	ENST00000312428.6	37	c.8714	CCDS42794.1	2	.	.	.	.	.	.	.	.	.	.	G	17.48	3.399590	0.62177	.	.	ENSG00000118997	ENST00000312428	T	0.74632	-0.86	5.55	5.55	0.83447	Dynein heavy chain, coiled coil stalk (1);	0.055612	0.64402	D	0.000001	D	0.88647	0.6493	M	0.90252	3.1	0.80722	D	1	D	0.63046	0.992	D	0.65323	0.934	D	0.89679	0.3889	10	0.62326	D	0.03	.	19.6982	0.96039	0.0:0.0:1.0:0.0	.	2905	Q8WXX0	DYH7_HUMAN	N	2905	ENSP00000311273:T2905N	ENSP00000311273:T2905N	T	-	2	0	DNAH7	196426379	1.000000	0.71417	0.973000	0.42090	0.086000	0.17979	6.542000	0.73869	2.894000	0.99253	0.655000	0.94253	ACT	DNAH7	-	NULL	ENSG00000118997		0.502	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH7	HGNC	protein_coding	OTTHUMT00000335202.3		0.00	19	0	G	NM_018897		196718134	-1			no_errors	ENST00000312428	ensembl	human	known	74_37	missense	8.89	41	4	SNP	1.000	T
DNHD1	144132	genome.wustl.edu	37	11	6588542	6588542	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr11:6588542G>T	ENST00000527990.2	+	34	11803	c.11803G>T	c.(11803-11805)Ggt>Tgt	p.G3935C	DNHD1_ENST00000254579.6_Missense_Mutation_p.G3935C			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	3935					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)		ACCCTTGGTGGGTGCATTGGG	0.602																																																	0													59.0	67.0	64.0					11																	6588542		2101	4220	6321	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.11803G>T	11.37:g.6588542G>T	ENSP00000436180:p.Gly3935Cys		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.G3935C	ENST00000527990.2	37	c.11803	CCDS44532.1	11	.	.	.	.	.	.	.	.	.	.	G	15.21	2.766548	0.49574	.	.	ENSG00000179532	ENST00000254579;ENST00000527990;ENST00000525883;ENST00000530197	T;T	0.26810	1.71;1.71	4.54	4.54	0.55810	.	0.000000	0.47852	D	0.000218	T	0.35098	0.0920	L	0.29908	0.895	0.34144	D	0.666745	D;D;D	0.89917	0.991;1.0;0.991	P;D;P	0.76071	0.635;0.987;0.635	T	0.44513	-0.9323	10	0.51188	T	0.08	-9.1708	9.9729	0.41765	0.0:0.0:0.7981:0.2019	.	3023;203;3935	B0I1S4;D3DQT9;Q96M86	.;.;DNHD1_HUMAN	C	3935;3935;203;203	ENSP00000254579:G3935C;ENSP00000436180:G3935C	ENSP00000254579:G3935C	G	+	1	0	DNHD1	6545118	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	4.586000	0.60984	2.359000	0.80004	0.561000	0.74099	GGT	DNHD1	-	NULL	ENSG00000179532		0.602	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	DNHD1	HGNC	protein_coding	OTTHUMT00000384673.2	-	0.00	74	0	G	NM_144666		6588542	+1	tier1	-	no_errors	ENST00000254579	ensembl	human	known	74_37	missense	11.76	30	4	SNP	1.000	T
DNM1	1759	genome.wustl.edu	37	9	131016958	131016958	+	Missense_Mutation	SNP	C	C	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr9:131016958C>T	ENST00000372923.3	+	22	2652	c.2560C>T	c.(2560-2562)Cgt>Tgt	p.R854C	DNM1_ENST00000341179.7_3'UTR|DNM1_ENST00000393594.3_3'UTR|DNM1_ENST00000486160.1_Missense_Mutation_p.R854C	NM_004408.2	NP_004399.2	Q05193	DYN1_HUMAN	dynamin 1	854					endocytosis (GO:0006897)|endosome organization (GO:0007032)|GTP catabolic process (GO:0006184)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)	extracellular vesicular exosome (GO:0070062)|membrane coat (GO:0030117)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						AAGTCCATCCCGTCCTGAGAG	0.587																																					GBM(113;146 1575 2722 28670 29921)												0													71.0	78.0	75.0					9																	131016958		1374	2356	3730	SO:0001583	missense	0			L07807	CCDS6895.1, CCDS43882.1, CCDS75911.1, CCDS75912.1	9q34	2013-01-10			ENSG00000106976	ENSG00000106976		"""Pleckstrin homology (PH) domain containing"""	2972	protein-coding gene	gene with protein product		602377		DNM		2144893, 9143509	Standard	XM_005251763		Approved		uc022bob.1	Q05193	OTTHUMG00000020733	ENST00000372923.3:c.2560C>T	9.37:g.131016958C>T	ENSP00000362014:p.Arg854Cys		A6NLM6|Q5SYX0|Q5SYX2|Q6P3T6|Q86VD2	Missense_Mutation	SNP	pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,smart_Pleckstrin_homology,smart_GED,pfscan_Pleckstrin_homology,prints_Dynamin_SF	p.R854C	ENST00000372923.3	37	c.2560	CCDS6895.1	9	.	.	.	.	.	.	.	.	.	.	.	21.6	4.176905	0.78564	.	.	ENSG00000106976	ENST00000372923;ENST00000486160	D;D	0.93488	-3.23;-3.23	5.25	4.35	0.52113	.	0.984460	0.08252	N	0.974504	D	0.91740	0.7388	L	0.55990	1.75	0.44643	D	0.997625	B	0.17268	0.021	B	0.06405	0.002	D	0.84531	0.0633	10	0.72032	D	0.01	.	12.113	0.53850	0.0:0.9203:0.0:0.0797	.	854	Q05193	DYN1_HUMAN	C	854	ENSP00000362014:R854C;ENSP00000420045:R854C	ENSP00000362014:R854C	R	+	1	0	DNM1	130056779	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.562000	0.67346	1.216000	0.43427	-0.142000	0.14014	CGT	DNM1	-	NULL	ENSG00000106976		0.587	DNM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DNM1	HGNC	protein_coding	OTTHUMT00000054367.1	-	0.00	71	0	C	NM_004408		131016958	+1	tier1	-	no_errors	ENST00000372923	ensembl	human	known	74_37	missense	22.45	38	11	SNP	1.000	T
DNTT	1791	genome.wustl.edu	37	10	98092319	98092319	+	Missense_Mutation	SNP	G	G	A			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr10:98092319G>A	ENST00000371174.2	+	9	1427	c.1325G>A	c.(1324-1326)cGt>cAt	p.R442H	DNTT_ENST00000419175.1_Missense_Mutation_p.R442H			P04053	TDT_HUMAN	DNA nucleotidylexotransferase	442	Mediates interaction with DNTTIP2.				DNA modification (GO:0006304)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA nucleotidylexotransferase activity (GO:0003912)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		TACGAGCGTCGTGCCTTTGCC	0.557																																																	0													212.0	180.0	191.0					10																	98092319		2203	4300	6503	SO:0001583	missense	0			AB046378	CCDS7447.1	10q23-q24	2013-05-21	2013-05-21		ENSG00000107447	ENSG00000107447	2.7.7.31	"""DNA polymerases"""	2983	protein-coding gene	gene with protein product	"""Terminal deoxynucleotidyltransferase"""	187410	"""deoxynucleotidyltransferase, terminal"""				Standard	NM_004088		Approved	TDT	uc001kmf.3	P04053	OTTHUMG00000018832	ENST00000371174.2:c.1325G>A	10.37:g.98092319G>A	ENSP00000360216:p.Arg442His		Q53FH1|Q5W103|Q96E50	Missense_Mutation	SNP	pfam_DNA_pol_lambd_fingers_domain,pfam_BRCT_dom,pfam_Nucleotidyltransferase,superfamily_DNA_pol_b-like_N,superfamily_DNA_pol_lambd_fingers_domain,superfamily_BRCT_dom,smart_BRCT_dom,smart_DNA-dir_DNA_pol_X,pirsf_TdT/Mu,pfscan_BRCT_dom,prints_TdT/Mu,prints_DNA_pol_X,prints_DNA_pol_X_beta-like	p.R442H	ENST00000371174.2	37	c.1325	CCDS7447.1	10	.	.	.	.	.	.	.	.	.	.	G	9.821	1.185840	0.21870	.	.	ENSG00000107447	ENST00000419175;ENST00000371174	T;T	0.42513	0.97;0.97	5.81	-4.48	0.03515	DNA-directed DNA polymerase X (1);	0.397181	0.28677	N	0.014519	T	0.32852	0.0843	L	0.55481	1.735	0.09310	N	1	B;B	0.16396	0.017;0.01	B;B	0.04013	0.001;0.001	T	0.25328	-1.0135	10	0.39692	T	0.17	-3.0545	13.8136	0.63278	0.7815:0.0:0.2185:0.0	.	442;442	P04053-2;P04053	.;TDT_HUMAN	H	442	ENSP00000401169:R442H;ENSP00000360216:R442H	ENSP00000360216:R442H	R	+	2	0	DNTT	98082309	0.027000	0.19231	0.000000	0.03702	0.395000	0.30598	0.647000	0.24812	-0.707000	0.05022	-0.150000	0.13652	CGT	DNTT	-	smart_DNA-dir_DNA_pol_X,pirsf_TdT/Mu	ENSG00000107447		0.557	DNTT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DNTT	HGNC	protein_coding	OTTHUMT00000049607.1	-	0.00	63	0	G	NM_004088		98092319	+1	tier1	-	no_errors	ENST00000371174	ensembl	human	known	74_37	missense	22.86	27	8	SNP	0.000	A
DOPEY1	23033	genome.wustl.edu	37	6	83828667	83828667	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr6:83828667G>T	ENST00000349129.2	+	8	1101	c.841G>T	c.(841-843)Gat>Tat	p.D281Y	DOPEY1_ENST00000369739.3_Missense_Mutation_p.D281Y|DOPEY1_ENST00000536812.1_3'UTR|DOPEY1_ENST00000237163.5_Missense_Mutation_p.D281Y	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	281					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		GCTAAGGAGGGATATGTCTCT	0.423																																																	0													279.0	247.0	258.0					6																	83828667		2203	4300	6503	SO:0001583	missense	0			AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"""KIAA1117"""	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.841G>T	6.37:g.83828667G>T	ENSP00000195654:p.Asp281Tyr		Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Missense_Mutation	SNP	pfam_Dopey_N,superfamily_ARM-type_fold	p.D281Y	ENST00000349129.2	37	c.841	CCDS4996.1	6	.	.	.	.	.	.	.	.	.	.	G	22.5	4.292527	0.80914	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000369739	T;T;T	0.61274	0.12;0.18;0.12	5.49	5.49	0.81192	Dopey, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.81669	0.4871	M	0.94142	3.5	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.86605	0.1869	10	0.87932	D	0	.	19.3608	0.94436	0.0:0.0:1.0:0.0	.	281;281	B2RWN9;Q5JWR5	.;DOP1_HUMAN	Y	281	ENSP00000195654:D281Y;ENSP00000237163:D281Y;ENSP00000358754:D281Y	ENSP00000237163:D281Y	D	+	1	0	DOPEY1	83885386	1.000000	0.71417	0.996000	0.52242	0.576000	0.36127	9.476000	0.97823	2.572000	0.86782	0.650000	0.86243	GAT	DOPEY1	-	pfam_Dopey_N,superfamily_ARM-type_fold	ENSG00000083097		0.423	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DOPEY1	HGNC	protein_coding	OTTHUMT00000043785.2		0.00	14	0	G	NM_015018		83828667	+1			no_errors	ENST00000349129	ensembl	human	known	74_37	missense	10.00	36	4	SNP	1.000	T
DOPEY2	9980	genome.wustl.edu	37	21	37602976	37602976	+	Nonsense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr21:37602976G>T	ENST00000399151.3	+	14	1979	c.1894G>T	c.(1894-1896)Gag>Tag	p.E632*		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	632					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						TTGCATCCAAGAGCTAATCGC	0.532																																																	0													83.0	82.0	82.0					21																	37602976		2203	4300	6503	SO:0001587	stop_gained	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.1894G>T	21.37:g.37602976G>T	ENSP00000382104:p.Glu632*		D3DSG5|Q6PJQ7|Q9UEZ3	Nonsense_Mutation	SNP	pfam_Dopey_N	p.E632*	ENST00000399151.3	37	c.1894	CCDS13643.1	21	.	.	.	.	.	.	.	.	.	.	G	39	7.658604	0.98415	.	.	ENSG00000142197	ENST00000399151	.	.	.	5.43	3.55	0.40652	.	0.196194	0.53938	D	0.000055	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-18.3405	10.7527	0.46219	0.0715:0.1331:0.7954:0.0	.	.	.	.	X	632	.	ENSP00000382104:E632X	E	+	1	0	DOPEY2	36524846	1.000000	0.71417	0.989000	0.46669	0.750000	0.42670	6.051000	0.71072	1.387000	0.46486	0.491000	0.48974	GAG	DOPEY2	-	NULL	ENSG00000142197		0.532	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOPEY2	HGNC	protein_coding	OTTHUMT00000194636.1		0.00	78	0	G	NM_005128		37602976	+1			no_errors	ENST00000399151	ensembl	human	known	74_37	nonsense	6.67	28	2	SNP	1.000	T
DPH3	285381	genome.wustl.edu	37	3	16302333	16302333	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr3:16302333G>T	ENST00000488423.1	-	3	282	c.187C>A	c.(187-189)Cag>Aag	p.Q63K	DPH3_ENST00000285082.4_5'UTR|DPH3_ENST00000383775.4_Missense_Mutation_p.Q38K	NM_206831.2	NP_996662.1	Q96FX2	DPH3_HUMAN	diphthamide biosynthesis 3	63					negative regulation of protein secretion (GO:0050709)|peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)|positive regulation of binding (GO:0051099)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			large_intestine(2)	2						CACACAAACTGATCCTAAGAC	0.388																																																	0													96.0	85.0	89.0					3																	16302333		2203	4300	6503	SO:0001583	missense	0			BC010181	CCDS2629.1, CCDS43058.1	3p25.1	2013-06-19	2013-06-19	2006-10-25	ENSG00000154813	ENSG00000154813			27717	protein-coding gene	gene with protein product	"""DPH3A, KTI11 homolog A (S. cerevisiae)"""	608959	"""zinc finger, CSL-type containing 2"", ""DPH3 homolog (KTI11, S. cerevisiae)"", ""DPH3, KTI11 homolog (S. cerevisiae)"""	ZCSL2		14527407, 14980502, 15485916, 16648478	Standard	NM_001047434		Approved	DESR1, DELGIP1, MGC20197, KTI11, DELGIP, DPH3A	uc003cau.3	Q96FX2	OTTHUMG00000129866	ENST00000488423.1:c.187C>A	3.37:g.16302333G>T	ENSP00000419599:p.Gln63Lys			Missense_Mutation	SNP	pfam_Znf_DHP,pfscan_Znf_DHP	p.Q63K	ENST00000488423.1	37	c.187	CCDS2629.1	3	.	.	.	.	.	.	.	.	.	.	G	17.70	3.453107	0.63290	.	.	ENSG00000154813	ENST00000488423;ENST00000383775	.	.	.	5.73	5.73	0.89815	.	0.220153	0.40064	N	0.001192	T	0.57755	0.2075	.	.	.	0.58432	D	0.99999	B;B	0.18741	0.03;0.01	B;B	0.20184	0.022;0.028	T	0.54241	-0.8323	8	0.54805	T	0.06	-15.5674	16.802	0.85617	0.0:0.0:1.0:0.0	.	38;63	Q96FX2-2;Q96FX2	.;DPH3_HUMAN	K	63;38	.	ENSP00000373285:Q38K	Q	-	1	0	DPH3	16277337	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.956000	0.63645	2.697000	0.92050	0.491000	0.48974	CAG	DPH3	-	NULL	ENSG00000154813		0.388	DPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPH3	HGNC	protein_coding	OTTHUMT00000252108.2		0.00	10	0	G	NM_206831		16302333	-1			no_errors	ENST00000488423	ensembl	human	known	74_37	missense	7.14	52	4	SNP	1.000	T
DPPA5	340168	genome.wustl.edu	37	6	74063690	74063690	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr6:74063690G>T	ENST00000370370.3	-	2	247	c.178C>A	c.(178-180)Ctg>Atg	p.L60M		NM_001025290.2	NP_001020461.1	A6NC42	DPPA5_HUMAN	developmental pluripotency associated 5	60	KH; atypical.				multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)			NS(1)|endometrium(1)|lung(5)	7						GAAGACTCCAGAGCCTTCAGC	0.592																																																	0													63.0	58.0	60.0					6																	74063690		2203	4300	6503	SO:0001583	missense	0				CCDS34483.1	6q13	2014-01-28			ENSG00000203909	ENSG00000203909			19201	protein-coding gene	gene with protein product		611111					Standard	NM_001025290		Approved	Esg1	uc003pgs.2	A6NC42	OTTHUMG00000015025	ENST00000370370.3:c.178C>A	6.37:g.74063690G>T	ENSP00000359396:p.Leu60Met		B2RPQ7	Missense_Mutation	SNP	NULL	p.L60M	ENST00000370370.3	37	c.178	CCDS34483.1	6	.	.	.	.	.	.	.	.	.	.	G	10.51	1.369605	0.24771	.	.	ENSG00000203909	ENST00000370370	T	0.40756	1.02	3.74	2.87	0.33458	K Homology (1);	0.000000	0.38381	N	0.001705	T	0.48205	0.1487	M	0.77103	2.36	0.30831	N	0.736704	D	0.76494	0.999	D	0.87578	0.998	T	0.45011	-0.9290	10	0.72032	D	0.01	.	7.2008	0.25879	0.121:0.0:0.879:0.0	.	60	A6NC42	DPPA5_HUMAN	M	60	ENSP00000359396:L60M	ENSP00000359396:L60M	L	-	1	2	DPPA5	74120411	0.995000	0.38212	0.996000	0.52242	0.018000	0.09664	0.631000	0.24568	1.171000	0.42768	-0.339000	0.08088	CTG	DPPA5	-	NULL	ENSG00000203909		0.592	DPPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPPA5	HGNC	protein_coding	OTTHUMT00000041203.3		0.00	151	0	G	NM_001025290		74063690	-1			no_errors	ENST00000370370	ensembl	human	known	74_37	missense	5.17	55	3	SNP	0.996	T
DPYSL5	56896	genome.wustl.edu	37	2	27150120	27150120	+	Splice_Site	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr2:27150120G>T	ENST00000288699.6	+	4	578		c.e4-1		DPYSL5_ENST00000401478.1_Splice_Site	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5						axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)|signal transduction (GO:0007165)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)	p.?(2)		breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTGTTCTCCAGGTGAAAGCAG	0.577																																																	2	Unknown(2)	lung(2)											87.0	68.0	74.0					2																	27150120		2203	4300	6503	SO:0001630	splice_region_variant	0			AF264015	CCDS1730.1	2p23.3	2008-02-05			ENSG00000157851	ENSG00000157851			20637	protein-coding gene	gene with protein product		608383				10851247, 11034345	Standard	NM_020134		Approved	CRMP5, Ulip6, CRMP-5, CRAM	uc002rhu.4	Q9BPU6	OTTHUMG00000097071	ENST00000288699.6:c.421-1G>T	2.37:g.27150120G>T			Q8TCL6|Q9NQC4|Q9NRY9	Splice_Site	SNP	-	e3-1	ENST00000288699.6	37	c.421-1	CCDS1730.1	2	.	.	.	.	.	.	.	.	.	.	G	21.2	4.117278	0.77323	.	.	ENSG00000157851	ENST00000450961;ENST00000288699;ENST00000401478;ENST00000431402;ENST00000434719	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6203	0.91318	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DPYSL5	27003624	1.000000	0.71417	1.000000	0.80357	0.727000	0.41649	9.197000	0.94985	2.779000	0.95612	0.591000	0.81541	.	DPYSL5	-	-	ENSG00000157851		0.577	DPYSL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPYSL5	HGNC	protein_coding	OTTHUMT00000214187.2		0.00	63	0	G	NM_020134	Intron	27150120	+1			no_errors	ENST00000288699	ensembl	human	known	74_37	splice_site	7.89	35	3	SNP	1.000	T
DRD2	1813	genome.wustl.edu	37	11	113286268	113286268	+	Missense_Mutation	SNP	C	C	T	rs138509142		TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr11:113286268C>T	ENST00000362072.3	-	5	942	c.598G>A	c.(598-600)Gtg>Atg	p.V200M	DRD2_ENST00000538967.1_Missense_Mutation_p.V200M|DRD2_ENST00000355319.2_Missense_Mutation_p.V200M|DRD2_ENST00000544518.1_Missense_Mutation_p.V199M|DRD2_ENST00000346454.3_Missense_Mutation_p.V200M|DRD2_ENST00000535984.1_5'UTR|DRD2_ENST00000542968.1_Missense_Mutation_p.V200M	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	200					activation of protein kinase activity (GO:0032147)|adenohypophysis development (GO:0021984)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adult walking behavior (GO:0007628)|arachidonic acid secretion (GO:0050482)|associative learning (GO:0008306)|auditory behavior (GO:0031223)|axonogenesis (GO:0007409)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|branching morphogenesis of a nerve (GO:0048755)|cellular calcium ion homeostasis (GO:0006874)|cerebral cortex GABAergic interneuron migration (GO:0021853)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|feeding behavior (GO:0007631)|G-protein coupled receptor internalization (GO:0002031)|grooming behavior (GO:0007625)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|long-term memory (GO:0007616)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of circadian sleep/wake cycle, sleep (GO:0042321)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of insulin secretion (GO:0046676)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron-neuron synaptic transmission (GO:0007270)|orbitofrontal cortex development (GO:0021769)|peristalsis (GO:0030432)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|pigmentation (GO:0043473)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of receptor internalization (GO:0002092)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of urine volume (GO:0035810)|prepulse inhibition (GO:0060134)|protein localization (GO:0008104)|regulation of cAMP metabolic process (GO:0030814)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of heart rate (GO:0002027)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of potassium ion transport (GO:0043266)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)|regulation of synaptic transmission, GABAergic (GO:0032228)|release of sequestered calcium ion into cytosol (GO:0051209)|response to amphetamine (GO:0001975)|response to axon injury (GO:0048678)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to hypoxia (GO:0001666)|response to inactivity (GO:0014854)|response to iron ion (GO:0010039)|response to light stimulus (GO:0009416)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to toxic substance (GO:0009636)|sensory perception of smell (GO:0007608)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|visual learning (GO:0008542)|Wnt signaling pathway (GO:0016055)	acrosomal vesicle (GO:0001669)|axon (GO:0030424)|axon terminus (GO:0043679)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|sperm flagellum (GO:0036126)|synaptic vesicle membrane (GO:0030672)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)|identical protein binding (GO:0042802)|potassium channel regulator activity (GO:0015459)			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acepromazine(DB01614)|Acetophenazine(DB01063)|Alizapride(DB01425)|Amantadine(DB00915)|Amisulpride(DB06288)|Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Desipramine(DB01151)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Droperidol(DB00450)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Memantine(DB01043)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Metoclopramide(DB01233)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sertindole(DB06144)|Sulpiride(DB00391)|Tetrabenazine(DB04844)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	ATGAAGGGCACGTAGAAGGAG	0.587																																																	0								C	MET/VAL,MET/VAL	0,4402		0,0,2201	177.0	140.0	153.0		598,598	5.7	1.0	11	dbSNP_134	153	2,8590	2.2+/-6.3	0,2,4294	yes	missense,missense	DRD2	NM_000795.3,NM_016574.3	21,21	0,2,6495	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging,possibly-damaging	200/444,200/415	113286268	2,12992	2201	4296	6497	SO:0001583	missense	0			M29066	CCDS8361.1, CCDS8362.1	11q22-q23	2012-08-08						"""GPCR / Class A : Dopamine receptors"""	3023	protein-coding gene	gene with protein product		126450					Standard	NM_000795		Approved		uc001poa.4	P14416		ENST00000362072.3:c.598G>A	11.37:g.113286268C>T	ENSP00000354859:p.Val200Met		Q9NZR3|Q9UPA9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Dopamine_D2_rcpt,prints_GPCR_Rhodpsn,prints_Dopamine_rcpt	p.V200M	ENST00000362072.3	37	c.598	CCDS8361.1	11	.	.	.	.	.	.	.	.	.	.	C	33	5.263512	0.95399	0.0	2.33E-4	ENSG00000149295	ENST00000355319;ENST00000346454;ENST00000362072;ENST00000544518;ENST00000542968;ENST00000538967	T;T;T;T;T;T	0.40225	1.04;1.04;1.04;1.04;1.04;1.04	5.67	5.67	0.87782	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.71333	0.3327	M	0.89353	3.025	0.80722	D	1	D;D;D;D	0.69078	0.989;0.989;0.997;0.985	P;P;D;D	0.68483	0.903;0.903;0.958;0.915	T	0.76394	-0.2975	10	0.72032	D	0.01	.	19.7629	0.96329	0.0:1.0:0.0:0.0	.	199;200;200;200	F8VUV1;P14416-3;P14416-2;P14416	.;.;.;DRD2_HUMAN	M	200;200;200;199;200;200	ENSP00000347474:V200M;ENSP00000278597:V200M;ENSP00000354859:V200M;ENSP00000441068:V199M;ENSP00000442172:V200M;ENSP00000438215:V200M	ENSP00000278597:V200M	V	-	1	0	DRD2	112791478	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.666000	0.90696	0.561000	0.74099	GTG	DRD2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000149295		0.587	DRD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DRD2	HGNC	protein_coding	OTTHUMT00000395834.1	-	0.00	158	0	C	NM_000795		113286268	-1	tier1	rs138509142	no_errors	ENST00000355319	ensembl	human	known	74_37	missense	28.38	53	21	SNP	1.000	T
DSG2	1829	genome.wustl.edu	37	18	29126318	29126318	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr18:29126318G>T	ENST00000261590.8	+	15	3178	c.2969G>T	c.(2968-2970)aGa>aTa	p.R990I	RP11-75N4.2_ENST00000583706.1_RNA	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	990					apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|regulation of heart rate by cardiac conduction (GO:0086091)|response to progesterone (GO:0032570)|ventricular cardiac muscle cell action potential (GO:0086005)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			GTCACTGAAAGAGTAATACAG	0.483																																																	0													89.0	92.0	91.0					18																	29126318		1975	4154	6129	SO:0001583	missense	0			Z26317	CCDS42423.1	18q12.1	2014-09-17				ENSG00000046604		"""Cadherins / Major cadherins"""	3049	protein-coding gene	gene with protein product		125671				1612610	Standard	NM_001943		Approved	CDHF5	uc002kwu.4	Q14126		ENST00000261590.8:c.2969G>T	18.37:g.29126318G>T	ENSP00000261590:p.Arg990Ile		Q4KKU6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmosomal_cadherin	p.R990I	ENST00000261590.8	37	c.2969	CCDS42423.1	18	.	.	.	.	.	.	.	.	.	.	G	14.87	2.665447	0.47677	.	.	ENSG00000046604	ENST00000261590	D	0.82893	-1.66	5.16	3.35	0.38373	.	0.307941	0.27677	N	0.018304	D	0.86289	0.5897	M	0.71036	2.16	0.80722	D	1	D	0.59767	0.986	P	0.51415	0.669	D	0.87853	0.2659	10	0.87932	D	0	.	15.1058	0.72322	0.0:0.2687:0.7313:0.0	.	990	Q14126	DSG2_HUMAN	I	990	ENSP00000261590:R990I	ENSP00000261590:R990I	R	+	2	0	DSG2	27380316	1.000000	0.71417	0.817000	0.32601	0.226000	0.24999	1.602000	0.36783	0.847000	0.35167	0.655000	0.94253	AGA	DSG2	-	NULL	ENSG00000046604		0.483	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSG2	HGNC	protein_coding	OTTHUMT00000447506.1		0.00	20	0	G	NM_001943		29126318	+1			no_errors	ENST00000261590	ensembl	human	known	74_37	missense	7.14	39	3	SNP	0.995	T
DST	667	genome.wustl.edu	37	6	56499326	56499326	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr6:56499326G>T	ENST00000361203.3	-	22	2802	c.2795C>A	c.(2794-2796)gCt>gAt	p.A932D	DST_ENST00000244364.6_Missense_Mutation_p.A606D|DST_ENST00000370788.2_Missense_Mutation_p.A932D|DST_ENST00000446842.2_Missense_Mutation_p.A606D|DST_ENST00000370765.6_Missense_Mutation_p.A606D|DST_ENST00000421834.2_Missense_Mutation_p.A932D|DST_ENST00000312431.6_Missense_Mutation_p.A932D|DST_ENST00000370769.4_Missense_Mutation_p.A932D|DST_ENST00000370754.5_Missense_Mutation_p.A1110D|DST_ENST00000518935.1_Missense_Mutation_p.A606D			Q03001	DYST_HUMAN	dystonin	932	SH3.				axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TGGGACCATAGCCTCATTCCC	0.413																																																	0													118.0	98.0	105.0					6																	56499326		2203	4300	6503	SO:0001583	missense	0			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.2795C>A	6.37:g.56499326G>T	ENSP00000354508:p.Ala932Asp		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.A1110D	ENST00000361203.3	37	c.3329		6	.	.	.	.	.	.	.	.	.	.	G	32	5.191480	0.94923	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000439203;ENST00000520645;ENST00000370765;ENST00000518935	T;T;T;T;T;T;T;T;T;T;T;T	0.80566	-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39	5.2	5.2	0.72013	.	0.000000	0.47455	D	0.000237	D	0.88418	0.6431	M	0.75264	2.295	0.37638	D	0.921943	D;D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;0.998;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	0.993;0.992;0.996;0.952;0.998;0.997;0.993;1.0	D	0.88349	0.2980	9	0.59425	D	0.04	.	18.9264	0.92546	0.0:0.0:1.0:0.0	.	932;932;1110;606;606;606;932;606	Q5TBT1;E7ERU2;E9PEB9;Q6P0N6;Q03001-3;Q03001-9;Q03001;Q03001-8	.;.;.;.;.;.;DYST_HUMAN;.	D	606;1110;932;932;606;932;932;932;606;972;606;606	ENSP00000244364:A606D;ENSP00000359790:A1110D;ENSP00000359805:A932D;ENSP00000400883:A932D;ENSP00000393645:A606D;ENSP00000307959:A932D;ENSP00000359824:A932D;ENSP00000354508:A932D;ENSP00000404924:A606D;ENSP00000431030:A972D;ENSP00000359801:A606D;ENSP00000431003:A606D	ENSP00000244364:A606D	A	-	2	0	DST	56607285	1.000000	0.71417	0.979000	0.43373	0.979000	0.70002	9.657000	0.98554	2.717000	0.92951	0.585000	0.79938	GCT	DST	-	superfamily_ABC1_TM_dom	ENSG00000151914		0.413	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3		0.00	17	0	G	NM_001723		56499326	-1			no_errors	ENST00000370754	ensembl	human	known	74_37	missense	5.13	74	4	SNP	1.000	T
DYNC2H1	79659	genome.wustl.edu	37	11	103036711	103036711	+	Missense_Mutation	SNP	C	C	G			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr11:103036711C>G	ENST00000375735.2	+	31	4840	c.4696C>G	c.(4696-4698)Caa>Gaa	p.Q1566E	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.Q1566E|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1566	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GATTGAAACACAACTGGTGAA	0.348																																																	0													32.0	30.0	31.0					11																	103036711		1743	3856	5599	SO:0001583	missense	0			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.4696C>G	11.37:g.103036711C>G	ENSP00000364887:p.Gln1566Glu		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.Q1566E	ENST00000375735.2	37	c.4696	CCDS53701.1	11	.	.	.	.	.	.	.	.	.	.	C	2.705	-0.270024	0.05716	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.26518	1.73;1.73	5.31	4.33	0.51752	.	0.508313	0.14809	N	0.297182	T	0.12305	0.0299	N	0.04724	-0.175	0.38796	D	0.955091	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.12041	-1.0563	10	0.11794	T	0.64	.	12.7287	0.57185	0.0:0.6057:0.3943:0.0	.	1566;1566	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	E	1566	ENSP00000364887:Q1566E;ENSP00000381167:Q1566E	ENSP00000364887:Q1566E	Q	+	1	0	DYNC2H1	102541921	1.000000	0.71417	0.996000	0.52242	0.990000	0.78478	4.624000	0.61254	2.632000	0.89209	0.484000	0.47621	CAA	DYNC2H1	-	NULL	ENSG00000187240		0.348	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC2H1	HGNC	protein_coding	OTTHUMT00000387196.1	-	0.00	13	0	C	XM_370652		103036711	+1	tier1	-	no_errors	ENST00000398093	ensembl	human	known	74_37	missense	60.67	35	54	SNP	0.999	G
DYSF	8291	genome.wustl.edu	37	2	71887693	71887693	+	Missense_Mutation	SNP	G	G	A			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr2:71887693G>A	ENST00000258104.3	+	44	5075	c.4798G>A	c.(4798-4800)Gat>Aat	p.D1600N	DYSF_ENST00000409651.1_Missense_Mutation_p.D1632N|DYSF_ENST00000410041.1_Missense_Mutation_p.D1618N|DYSF_ENST00000413539.2_Missense_Mutation_p.D1631N|DYSF_ENST00000409762.1_Missense_Mutation_p.D1617N|DYSF_ENST00000409366.1_Missense_Mutation_p.D1622N|DYSF_ENST00000409744.1_Missense_Mutation_p.D1608N|DYSF_ENST00000394120.2_Missense_Mutation_p.D1601N|DYSF_ENST00000410020.3_Missense_Mutation_p.D1639N|DYSF_ENST00000409582.3_Missense_Mutation_p.D1638N|DYSF_ENST00000429174.2_Missense_Mutation_p.D1621N|DYSF_ENST00000479049.2_3'UTR	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1600	C2 6. {ECO:0000255|PROSITE- ProRule:PRU00041}.				plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CCTCCAGTGTGATCCTTACAT	0.488																																																	0													163.0	148.0	153.0					2																	71887693		2203	4300	6503	SO:0001583	missense	0			AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.4798G>A	2.37:g.71887693G>A	ENSP00000258104:p.Asp1600Asn		A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,superfamily_MFS_dom_general_subst_transpt,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom	p.D1631N	ENST00000258104.3	37	c.4891	CCDS1918.1	2	.	.	.	.	.	.	.	.	.	.	G	20.7	4.026148	0.75390	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	T;T;T;T;T;T;T;T;T;T;T	0.57595	0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39	5.78	5.78	0.91487	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.199352	0.51477	D	0.000091	T	0.73442	0.3587	H	0.95114	3.625	0.58432	D	0.999997	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.18013	0.01;0.005;0.019;0.019;0.001;0.012;0.018;0.012;0.014;0.002;0.025;0.0;0.003;0.001;0.006	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.36666	0.11;0.019;0.019;0.019;0.007;0.075;0.041;0.04;0.134;0.004;0.23;0.003;0.01;0.007;0.03	T	0.75783	-0.3196	10	0.87932	D	0	-13.2399	17.5763	0.87950	0.0:0.0:1.0:0.0	.	364;1632;1639;1622;1587;1618;1608;1617;1607;1631;1638;1621;1586;1601;1600	B7Z8G4;O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	N	1631;1617;1638;1621;1600;1632;1601;1608;1622;1639;1618	ENSP00000407046:D1631N;ENSP00000387137:D1617N;ENSP00000386547:D1638N;ENSP00000398305:D1621N;ENSP00000258104:D1600N;ENSP00000386683:D1632N;ENSP00000377678:D1601N;ENSP00000386285:D1608N;ENSP00000386512:D1622N;ENSP00000386881:D1639N;ENSP00000386617:D1618N	ENSP00000258104:D1600N	D	+	1	0	DYSF	71741201	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.845000	0.99498	2.754000	0.94517	0.549000	0.68633	GAT	DYSF	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	ENSG00000135636		0.488	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DYSF	HGNC	protein_coding	OTTHUMT00000251970.3		0.00	38	0	G	NM_003494		71887693	+1			no_errors	ENST00000413539	ensembl	human	known	74_37	missense	5.13	37	2	SNP	1.000	A
EHD2	30846	genome.wustl.edu	37	19	48244617	48244617	+	Missense_Mutation	SNP	C	C	A	rs200296704		TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr19:48244617C>A	ENST00000263277.3	+	6	1811	c.1560C>A	c.(1558-1560)caC>caA	p.H520Q	EHD2_ENST00000540884.1_3'UTR|EHD2_ENST00000538399.1_Missense_Mutation_p.H384Q	NM_014601.3	NP_055416.2	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	520	EH. {ECO:0000255|PROSITE- ProRule:PRU00077}.				blood coagulation (GO:0007596)|cortical actin cytoskeleton organization (GO:0030866)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein localization to plasma membrane (GO:0072659)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)	p.H520H(1)		endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		TGGAAGGCCACGGGCTGCCCG	0.697																																																	1	Substitution - coding silent(1)	large_intestine(1)											22.0	21.0	21.0					19																	48244617		2203	4299	6502	SO:0001583	missense	0			AF181263	CCDS12704.1	19q13.3	2014-08-12			ENSG00000024422	ENSG00000024422		"""EF-hand domain containing"""	3243	protein-coding gene	gene with protein product		605890		PAST2		10673336	Standard	NM_014601		Approved		uc002phj.4	Q9NZN4	OTTHUMG00000183266	ENST00000263277.3:c.1560C>A	19.37:g.48244617C>A	ENSP00000263277:p.His520Gln		B2RDH9|B4DNU6|Q96CB6	Missense_Mutation	SNP	pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology	p.H520Q	ENST00000263277.3	37	c.1560	CCDS12704.1	19	.	.	.	.	.	.	.	.	.	.	C	11.88	1.772004	0.31320	.	.	ENSG00000024422	ENST00000263277;ENST00000540364;ENST00000538399;ENST00000540884	T;T	0.27720	1.65;1.65	3.88	0.802	0.18686	EPS15 homology (EH) (2);EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.18173	0.0436	L	0.31371	0.925	0.53688	D	0.999977	B	0.20052	0.041	B	0.25506	0.061	T	0.08086	-1.0739	9	.	.	.	-32.5201	6.2055	0.20600	0.0:0.5392:0.0:0.4608	.	520	Q9NZN4	EHD2_HUMAN	Q	520;510;384;203	ENSP00000263277:H520Q;ENSP00000439036:H384Q	.	H	+	3	2	EHD2	52936429	0.094000	0.21725	0.998000	0.56505	0.970000	0.65996	-0.461000	0.06712	0.007000	0.14760	0.462000	0.41574	CAC	EHD2	-	smart_EPS15_homology,pfscan_EPS15_homology	ENSG00000024422		0.697	EHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHD2	HGNC	protein_coding	OTTHUMT00000465851.1		0.00	50	0	C			48244617	+1			no_errors	ENST00000263277	ensembl	human	known	74_37	missense	9.68	28	3	SNP	0.999	A
EIF3J	8669	genome.wustl.edu	37	15	44829028	44829028	+	5'Flank	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr15:44829028G>T	ENST00000535391.1	+	0	0				EIF3J_ENST00000261868.5_5'Flank|EIF3J-AS1_ENST00000313807.4_lincRNA|EIF3J_ENST00000424492.3_5'Flank					eukaryotic translation initiation factor 3, subunit J											endometrium(1)|large_intestine(5)|liver(2)|skin(1)	9		all_cancers(109;2.81e-14)|all_epithelial(112;2.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;3.13e-20)|GBM - Glioblastoma multiforme(94;9.81e-07)|COAD - Colon adenocarcinoma(120;0.0754)|Colorectal(105;0.0758)		GAGTCGGGCGGCGGTCTTCCA	0.637																																																	0																																										SO:0001631	upstream_gene_variant	0			U97670	CCDS10111.1, CCDS61612.1, CCDS61613.1	15q21.1	2014-05-13	2007-07-27	2007-07-27	ENSG00000104131	ENSG00000104131			3270	protein-coding gene	gene with protein product		603910	"""eukaryotic translation initiation factor 3, subunit 1 alpha, 35kDa"""	EIF3S1		9822659	Standard	NM_001284335		Approved	eIF3-p35, eIF3-alpha, eIF3j	uc001ztv.3	O75822	OTTHUMG00000131158		15.37:g.44829028G>T	Exception_encountered			RNA	SNP	-	NULL	ENST00000535391.1	37	NULL		15	.	.	.	.	.	.	.	.	.	.	g	6.935	0.542297	0.13250	.	.	ENSG00000179523	ENST00000313807	.	.	.	3.65	0.474	0.16768	.	.	.	.	.	T	0.24967	0.0606	.	.	.	.	.	.	.	.	.	.	.	.	T	0.34329	-0.9833	4	0.17369	T	0.5	.	5.0617	0.14560	0.132:0.415:0.453:0.0	.	.	.	.	T	28	.	ENSP00000319558:P28T	P	-	1	0	AC009996.1	42616320	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.133000	0.10451	0.116000	0.18110	-0.281000	0.10026	CCG	EIF3J-AS1	-	-	ENSG00000179523		0.637	EIF3J-002	NOVEL	basic|exp_conf	protein_coding	EIF3J-AS1	HGNC	protein_coding	OTTHUMT00000396804.1	-	0.00	105	0	G	NM_003758		44829028	-1	tier1	-	no_errors	ENST00000313807	ensembl	human	known	74_37	rna	7.02	53	4	SNP	0.000	T
ELN	2006	genome.wustl.edu	37	7	73462495	73462495	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr7:73462495G>T	ENST00000252034.7	+	14	1108	c.709G>T	c.(709-711)Ggt>Tgt	p.G237C	ELN_ENST00000458204.1_Missense_Mutation_p.G227C|ELN_ENST00000320492.7_Missense_Mutation_p.G201C|ELN_ENST00000358929.4_Missense_Mutation_p.G237C|ELN_ENST00000380584.4_Missense_Mutation_p.G223C|ELN_ENST00000429192.1_Missense_Mutation_p.G242C|ELN_ENST00000414324.1_Missense_Mutation_p.G232C|ELN_ENST00000380553.4_Missense_Mutation_p.G120C|ELN_ENST00000380575.4_Missense_Mutation_p.G227C|ELN_ENST00000445912.1_Missense_Mutation_p.G237C|ELN_ENST00000380562.4_Missense_Mutation_p.G237C|ELN_ENST00000380576.5_Missense_Mutation_p.G237C|ELN_ENST00000320399.6_Missense_Mutation_p.G237C|ELN_ENST00000357036.5_Missense_Mutation_p.G242C	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	237	Ala-rich.				blood circulation (GO:0008015)|blood vessel remodeling (GO:0001974)|cell proliferation (GO:0008283)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|organ morphogenesis (GO:0009887)|regulation of actin filament polymerization (GO:0030833)|respiratory gaseous exchange (GO:0007585)|skeletal muscle tissue development (GO:0007519)|stress fiber assembly (GO:0043149)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)				AGGAGTGGCTGGTGCAGCGGG	0.612			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""																																	Dom	yes		7	7q11.23	2006	elastin	yes	L	0													55.0	63.0	60.0					7																	73462495		2203	4300	6503	SO:0001583	missense	0				CCDS5562.2, CCDS43598.1, CCDS43599.1, CCDS47611.1, CCDS47612.1, CCDS64673.1, CCDS64674.1, CCDS64675.1, CCDS64676.1, CCDS64677.1, CCDS64678.1, CCDS75616.1, CCDS75617.1	7q11.1-q21.1	2008-08-01	2008-08-01		ENSG00000049540	ENSG00000049540			3327	protein-coding gene	gene with protein product	"""tropoelastin"", ""supravalvular aortic stenosis"", ""Williams-Beuren syndrome"""	130160				8096434	Standard	NM_001278939		Approved	WBS, WS, SVAS	uc003tzn.3	P15502	OTTHUMG00000150229	ENST00000252034.7:c.709G>T	7.37:g.73462495G>T	ENSP00000252034:p.Gly237Cys		B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	Missense_Mutation	SNP	prints_Tropoelastin	p.G237C	ENST00000252034.7	37	c.709	CCDS5562.2	7	.	.	.	.	.	.	.	.	.	.	G	11.98	1.801611	0.31869	.	.	ENSG00000049540	ENST00000445912;ENST00000252034;ENST00000358929;ENST00000320492;ENST00000438906;ENST00000438880;ENST00000414324;ENST00000380562;ENST00000380575;ENST00000380584;ENST00000458204;ENST00000357036;ENST00000417091;ENST00000429192;ENST00000442462;ENST00000380553;ENST00000380576;ENST00000428787;ENST00000320399	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.65178	0.49;0.51;0.37;0.97;-0.14;0.57;0.52;0.52;0.46;0.96;0.51;0.49;0.46;0.98;0.52;0.49	4.96	4.96	0.65561	.	.	.	.	.	T	0.69187	0.3083	L	0.38175	1.15	0.35572	D	0.805595	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.76494	0.997;0.999;0.995;0.997;0.997;0.995;0.997;0.997;0.997;0.997;0.997;0.997;0.997;0.997	P;D;P;P;P;P;P;P;P;P;D;D;D;P	0.65773	0.874;0.938;0.874;0.874;0.874;0.874;0.874;0.874;0.874;0.874;0.911;0.911;0.911;0.874	T	0.77606	-0.2525	9	0.87932	D	0	-4.0168	13.6882	0.62529	0.0:0.0:1.0:0.0	.	237;206;201;232;227;237;227;242;242;237;120;193;223;237	E7ENM0;E9PBM4;G5E950;G3V0G6;E7EN65;P15502-1;P15502-7;P15502-12;P15502-5;P15502-13;P15502-11;B3KRT8;P15502-8;P15502-2	.;.;.;.;.;.;.;.;.;.;.;.;.;.	C	237;237;237;201;215;98;232;237;227;223;227;242;203;242;206;120;237;155;237	ENSP00000389857:G237C;ENSP00000252034:G237C;ENSP00000351807:G237C;ENSP00000315607:G201C;ENSP00000406949:G215C;ENSP00000389206:G98C;ENSP00000392575:G232C;ENSP00000369936:G237C;ENSP00000369949:G227C;ENSP00000369958:G223C;ENSP00000403162:G227C;ENSP00000349540:G242C;ENSP00000391129:G242C;ENSP00000369926:G120C;ENSP00000369950:G237C;ENSP00000313565:G237C	ENSP00000252034:G237C	G	+	1	0	ELN	73100431	1.000000	0.71417	0.866000	0.34008	0.186000	0.23388	5.162000	0.64942	2.294000	0.77228	0.400000	0.26472	GGT	ELN	-	prints_Tropoelastin	ENSG00000049540		0.612	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ELN	HGNC	protein_coding	OTTHUMT00000316913.1	-	0.00	140	0	G	NM_000501		73462495	+1	tier1	-	no_errors	ENST00000358929	ensembl	human	known	74_37	missense	6.90	54	4	SNP	0.778	T
MYO1E	4643	genome.wustl.edu	37	15	59443238	59443238	+	Intron	SNP	A	A	G			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr15:59443238A>G	ENST00000288235.4	-	26	3480				AC092757.1_ENST00000408169.1_RNA	NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE						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)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		acacacacacacacacacaca	0.542																																																	0																																										SO:0001627	intron_variant	0			U14391	CCDS32254.1	15q21-q22	2011-09-27				ENSG00000157483		"""Myosins / Myosin superfamily : Class I"""	7599	protein-coding gene	gene with protein product	"""myosin-IC"""	601479				8884266	Standard	NM_004998		Approved	MYO1C, HuncM-IC, MGC104638	uc002aga.4	Q12965		ENST00000288235.4:c.3080+2550T>C	15.37:g.59443238A>G			Q14778	RNA	SNP	-	NULL	ENST00000288235.4	37	NULL	CCDS32254.1	15																																																																																			AC092757.1	-	-	ENSG00000221096		0.542	MYO1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000221096	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000416024.1	-	0.00	23	0	A	NM_004998		59443238	-1	tier1	-	no_errors	ENST00000408169	ensembl	human	novel	74_37	rna	20.00	24	6	SNP	0.000	G
TMEM150C	441027	genome.wustl.edu	37	4	83417127	83417127	+	Intron	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr4:83417127G>T	ENST00000515780.2	-	6	568				TMEM150C_ENST00000449862.2_Intron|RP11-791G16.2_ENST00000488045.1_RNA|TMEM150C_ENST00000508701.1_Intron			B9EJG8	T150C_HUMAN	transmembrane protein 150C							integral component of membrane (GO:0016021)				ovary(1)	1						AATTATATGGGCCATATGGTG	0.413																																																	0																																										SO:0001627	intron_variant	0			BC147027	CCDS47087.1	4q21.22	2010-06-25			ENSG00000249242	ENSG00000249242			37263	protein-coding gene	gene with protein product							Standard	NM_001080506		Approved	FLJ12993	uc003hmy.1	B9EJG8	OTTHUMG00000161083	ENST00000515780.2:c.363+93C>A	4.37:g.83417127G>T			B7Z4J5|B7Z4L3|B7Z692|B7Z6X6	RNA	SNP	-	NULL	ENST00000515780.2	37	NULL	CCDS47087.1	4																																																																																			RP11-791G16.2	-	-	ENSG00000227304		0.413	TMEM150C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000227304	Clone_based_vega_gene	protein_coding	OTTHUMT00000363685.2	-	0.00	19	0	G	NM_001080506		83417127	-1	tier1	-	no_errors	ENST00000488045	ensembl	human	known	74_37	rna	37.21	27	16	SNP	0.002	T
MAP1LC3BP1	392288	genome.wustl.edu	37	9	19461212	19461212	+	RNA	SNP	C	C	A			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr9:19461212C>A	ENST00000438342.1	-	0	461																											CTGTTATCACCGGGCTTTTGG	0.522																																																	0																																												0																															9.37:g.19461212C>A				RNA	SNP	-	NULL	ENST00000438342.1	37	NULL		9																																																																																			RP11-363E7.3	-	-	ENSG00000231909		0.522	RP11-363E7.3-002	KNOWN	basic	processed_transcript	ENSG00000231909	Clone_based_vega_gene	pseudogene	OTTHUMT00000331477.1	-	0.00	37	0	C			19461212	-1	tier1	-	no_errors	ENST00000438342	ensembl	human	known	74_37	rna	8.89	41	4	SNP	0.995	A
PANK1	53354	genome.wustl.edu	37	10	91405100	91405100	+	5'UTR	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr10:91405100G>T	ENST00000307534.4	-	0	115				RP11-80H5.6_ENST00000428166.1_lincRNA|RP11-80H5.2_ENST00000454174.1_RNA|RP11-80H5.2_ENST00000451733.1_RNA|PANK1_ENST00000488482.1_5'Flank|PANK1_ENST00000322191.6_5'Flank|PANK1_ENST00000342512.3_5'Flank|PANK1_ENST00000371774.2_5'Flank	NM_148977.2	NP_683878.1	Q8TE04	PANK1_HUMAN	pantothenate kinase 1						coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cell periphery (GO:0071944)|clathrin coat (GO:0030118)|cytosol (GO:0005829)|nucleus (GO:0005634)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	11						GGAGATGGGCGGGTTGGGCTT	0.567																																																	0													12.0	13.0	12.0					10																	91405100		1753	3633	5386	SO:0001623	5_prime_UTR_variant	0			AF355198	CCDS7405.1, CCDS7406.1, CCDS31244.1	10q23.31	2008-05-14	2002-11-13	2002-11-15	ENSG00000152782	ENSG00000152782			8598	protein-coding gene	gene with protein product		606160	"""pantothenate kinase"""	PANK		11809413	Standard	NM_148977		Approved	MGC24596, PANK1a, PANK1b	uc001kgp.2	Q8TE04	OTTHUMG00000018718	ENST00000307534.4:c.-41C>A	10.37:g.91405100G>T			A6NIP0|Q7RTX6|Q7Z495|Q8TBQ8	RNA	SNP	-	NULL	ENST00000307534.4	37	NULL	CCDS31244.1	10																																																																																			RP11-80H5.2	-	-	ENSG00000232936		0.567	PANK1-201	KNOWN	basic|CCDS	protein_coding	ENSG00000232936	Clone_based_vega_gene	protein_coding		-	0.00	25	0	G			91405100	+1	tier1	-	no_errors	ENST00000454174	ensembl	human	known	74_37	rna	15.00	17	3	SNP	1.000	T
NOL4L	140688	genome.wustl.edu	37	20	31041311	31041311	+	Intron	SNP	G	G	A			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr20:31041311G>A	ENST00000359676.5	-	5	716				C20orf112_ENST00000475781.1_Intron|RP5-1184F4.5_ENST00000442179.1_RNA	NM_001256798.1|NM_080616.4	NP_001243727.1|NP_542183.2	Q96MY1	NOL4L_HUMAN								cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|kidney(2)|large_intestine(5)|lung(5)	15						GTGGAGACACGGGCCATGGGA	0.617																																																	0													126.0	109.0	115.0					20																	31041311		2203	4300	6503	SO:0001627	intron_variant	0																														ENST00000359676.5:c.574-13C>T	20.37:g.31041311G>A			Q5JYB7|Q6P0Y4|Q9BR34|Q9NQF6	RNA	SNP	-	NULL	ENST00000359676.5	37	NULL	CCDS13202.1	20																																																																																			RP5-1184F4.5	-	-	ENSG00000236772		0.617	C20orf112-001	KNOWN	basic|CCDS	protein_coding	ENSG00000236772	Clone_based_vega_gene	protein_coding	OTTHUMT00000078628.2	-	0.00	61	0	G			31041311	+1	tier1	-	no_errors	ENST00000442179	ensembl	human	known	74_37	rna	42.86	28	21	SNP	0.000	A
PDE7B	27115	genome.wustl.edu	37	6	136513287	136513287	+	3'UTR	SNP	C	C	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr6:136513287C>T	ENST00000308191.6	+	0	1965				RP13-143G15.4_ENST00000585946.1_RNA|RP13-143G15.4_ENST00000591521.1_RNA|RP13-143G15.4_ENST00000417643.1_RNA	NM_018945.3	NP_061818.1	Q9NP56	PDE7B_HUMAN	phosphodiesterase 7B						cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)			breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Colorectal(23;0.24)			OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Caffeine(DB00201)|Dyphylline(DB00651)|Ketotifen(DB00920)	CTGCCGTGTCCGCCTTGTTCC	0.567																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AB038040	CCDS5175.1	6q23-q24	2008-03-18			ENSG00000171408	ENSG00000171408	3.1.4.17	"""Phosphodiesterases"""	8792	protein-coding gene	gene with protein product		604645				10618442	Standard	XM_005266931		Approved		uc003qgp.3	Q9NP56	OTTHUMG00000015641	ENST00000308191.6:c.*309C>T	6.37:g.136513287C>T			Q5W154	RNA	SNP	-	NULL	ENST00000308191.6	37	NULL	CCDS5175.1	6																																																																																			RP13-143G15.4	-	-	ENSG00000237596		0.567	PDE7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000237596	Clone_based_vega_gene	protein_coding	OTTHUMT00000042371.1	-	0.00	62	0	C			136513287	-1	tier1	-	no_errors	ENST00000591521	ensembl	human	known	74_37	rna	20.00	40	10	SNP	0.022	T
SCARA5	286133	genome.wustl.edu	37	8	27762149	27762149	+	Intron	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr8:27762149G>T	ENST00000354914.3	-	7	1639				RP11-597M17.1_ENST00000517735.1_RNA|SCARA5_ENST00000524352.1_3'UTR|SCARA5_ENST00000380385.2_Intron	NM_173833.5	NP_776194.2	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5						cellular iron ion homeostasis (GO:0006879)|cellular response to heat (GO:0034605)|endocytosis (GO:0006897)|iron ion transmembrane transport (GO:0034755)|protein homotrimerization (GO:0070207)|receptor-mediated endocytosis (GO:0006898)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)	ferritin receptor activity (GO:0070287)|scavenger receptor activity (GO:0005044)			central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		GACCAGCAGAGCCCTAAAAAA	0.557																																																	0																																										SO:0001627	intron_variant	0			AK172746	CCDS6064.1	8p21.1	2014-07-08	2014-07-08		ENSG00000168079	ENSG00000168079			28701	protein-coding gene	gene with protein product		611306	"""scavenger receptor class A, member 5 (putative)"""			19154717	Standard	NM_173833		Approved	FLJ23907, MGC45780, NET33	uc003xgj.3	Q6ZMJ2	OTTHUMG00000132172	ENST00000354914.3:c.1153+145C>A	8.37:g.27762149G>T			Q6UXZ1|Q7Z4A1|Q8N4Z7	RNA	SNP	-	NULL	ENST00000354914.3	37	NULL	CCDS6064.1	8																																																																																			RP11-597M17.1	-	-	ENSG00000253397		0.557	SCARA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000253397	Clone_based_vega_gene	protein_coding	OTTHUMT00000255223.2	-	0.00	106	0	G	NM_173833		27762149	+1	tier1	-	no_errors	ENST00000517735	ensembl	human	known	74_37	rna	5.26	72	4	SNP	0.000	T
AC008694.3	0	genome.wustl.edu	37	5	157117205	157117205	+	RNA	SNP	G	G	A	rs560458567	byFrequency	TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr5:157117205G>A	ENST00000522076.1	-	0	69																											GCCACGAGCCGGGCCATTGGA	0.647													.|||	10	0.00199681	0.0076	0.0	5008	,	,		14379	0.0		0.0	False		,,,				2504	0.0																0																																												0																															5.37:g.157117205G>A				RNA	SNP	-	NULL	ENST00000522076.1	37	NULL		5																																																																																			AC008694.3	-	-	ENSG00000253798		0.647	AC008694.3-001	KNOWN	basic	antisense	ENSG00000253798	Clone_based_vega_gene	antisense	OTTHUMT00000373924.1	-	0.00	93	0	G			157117205	-1	tier1	-	no_errors	ENST00000522076	ensembl	human	known	74_37	rna	43.75	18	14	SNP	0.217	A
MGAM2	93432	genome.wustl.edu	37	7	141919721	141919721	+	Nonsense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr7:141919721G>T	ENST00000477922.3	+	48	5464	c.5410G>T	c.(5410-5412)Gag>Tag	p.E1804*																	endometrium(1)|lung(5)	6						AAAGTTAACTGAGGTTACTTG	0.388																																																	0																																										SO:0001587	stop_gained	0																														ENST00000477922.3:c.5410G>T	7.37:g.141919721G>T	ENSP00000420449:p.Glu1804*			Nonsense_Mutation	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,superfamily_P_trefoil,smart_P_trefoil	p.E1804*	ENST00000477922.3	37	c.5410		7	.	.	.	.	.	.	.	.	.	.	G	40	8.248712	0.98724	.	.	ENSG00000257743	ENST00000477922	.	.	.	3.7	-0.81	0.10860	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	3.6124	0.08065	0.3579:0.1926:0.4495:0.0	.	.	.	.	X	1772	.	ENSP00000420449:E1772X	E	+	1	0	RP11-1220K2.2	141566195	0.002000	0.14202	0.289000	0.24876	0.240000	0.25518	-0.025000	0.12413	0.024000	0.15214	0.305000	0.20034	GAG	RP11-1220K2.2	-	NULL	ENSG00000257743		0.388	RP11-1220K2.2-003	PUTATIVE	not_best_in_genome_evidence|basic|appris_principal|exp_conf	protein_coding	ENSG00000257743	Clone_based_vega_gene	protein_coding	OTTHUMT00000351325.3	-	0.00	27	0	G			141919721	+1	tier1	-	no_errors	ENST00000477922	ensembl	human	putative	74_37	nonsense	6.15	61	4	SNP	0.358	T
ZNF551	90233	genome.wustl.edu	37	19	58204032	58204033	+	IGR	INS	-	-	A	rs536593593|rs76200340|rs76034683		TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr19:58204032_58204033insA	ENST00000282296.5	+	0	4564				AC004017.1_ENST00000597520.1_Frame_Shift_Ins_p.E33fs|AC003006.7_ENST00000594684.1_Intron|AC003006.7_ENST00000599221.1_Intron|ZNF551_ENST00000596085.1_Intron			Q7Z340	ZN551_HUMAN	zinc finger protein 551						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(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		gactccgtctcaaaaaaaaaaa	0.515																																																	0																																										SO:0001628	intergenic_variant	0			BX538151	CCDS12959.1, CCDS12959.2	19q13.43	2013-09-20			ENSG00000204519	ENSG00000204519		"""Zinc fingers, C2H2-type"", ""-"""	25108	protein-coding gene	gene with protein product							Standard	NM_138347		Approved	DKFZp686H1038	uc002qpw.5	Q7Z340	OTTHUMG00000183470		19.37:g.58204043_58204043dupA			B4DU22|P17034|Q8N246|Q9BRY1	Frame_Shift_Ins	INS	NULL	p.E32fs	ENST00000282296.5	37	c.97_96	CCDS12959.2	19																																																																																			AC004017.1	-	NULL	ENSG00000268948		0.515	ZNF551-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000268948	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000466803.2		0.00	13	0	-	NM_138347		58204033	-1	tier1		no_errors	ENST00000597520	ensembl	human	novel	74_37	frame_shift_ins	14.29	24	4	INS	0.038:0.045	A
EPB41L2	2037	genome.wustl.edu	37	6	131220635	131220635	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr6:131220635G>T	ENST00000337057.3	-	8	1413	c.1232C>A	c.(1231-1233)gCc>gAc	p.A411D	EPB41L2_ENST00000529208.1_Missense_Mutation_p.A411D|EPB41L2_ENST00000528282.1_Missense_Mutation_p.A411D|EPB41L2_ENST00000525193.1_Missense_Mutation_p.A411D|EPB41L2_ENST00000527659.1_Missense_Mutation_p.A411D|EPB41L2_ENST00000530148.1_5'UTR|EPB41L2_ENST00000527411.1_Missense_Mutation_p.A411D|EPB41L2_ENST00000530481.1_Missense_Mutation_p.A411D|EPB41L2_ENST00000445890.2_Missense_Mutation_p.A411D|EPB41L2_ENST00000392427.3_Missense_Mutation_p.A411D|EPB41L2_ENST00000525271.1_Missense_Mutation_p.A411D|EPB41L2_ENST00000368128.2_Missense_Mutation_p.A411D	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	411	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cortical actin cytoskeleton organization (GO:0030866)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|spectrin (GO:0008091)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		CAGTACCTTGGCATGATGTAG	0.438																																																	0													149.0	128.0	135.0					6																	131220635		2203	4300	6503	SO:0001583	missense	0			AF027299	CCDS5141.1, CCDS47474.1, CCDS56450.1, CCDS59037.1	6q23	2008-08-29			ENSG00000079819	ENSG00000079819			3379	protein-coding gene	gene with protein product		603237				9598318, 9828140	Standard	NM_001431		Approved	4.1-G	uc003qch.2	O43491	OTTHUMG00000015560	ENST00000337057.3:c.1232C>A	6.37:g.131220635G>T	ENSP00000338481:p.Ala411Asp		B4DHI8|E9PPD9|Q5T4F0|Q68DV2	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,prints_Band_41_fam,prints_Ez/rad/moesin_like,pfscan_FERM_domain	p.A411D	ENST00000337057.3	37	c.1232	CCDS5141.1	6	.	.	.	.	.	.	.	.	.	.	G	32	5.159411	0.94686	.	.	ENSG00000079819	ENST00000528282;ENST00000530481;ENST00000445890;ENST00000337057;ENST00000392427;ENST00000425439;ENST00000368128;ENST00000527411;ENST00000525271;ENST00000525193;ENST00000527659;ENST00000529208	D;D;D;D;D;D;D;D;D;D;D	0.84070	-1.8;-1.8;-1.8;-1.8;-1.8;-1.8;-1.8;-1.8;-1.8;-1.8;-1.8	4.22	4.22	0.49857	FERM domain (1);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.94142	0.8121	H	0.97415	4	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;0.999;0.999	D	0.95778	0.8814	10	0.87932	D	0	.	17.9117	0.88936	0.0:0.0:1.0:0.0	.	411;411;411;411;411	E9PHY5;B4DHI8;E9PPD9;O43491;Q68DV2	.;.;.;E41L2_HUMAN;.	D	411	ENSP00000434308:A411D;ENSP00000434576:A411D;ENSP00000402041:A411D;ENSP00000338481:A411D;ENSP00000376222:A411D;ENSP00000357110:A411D;ENSP00000436348:A411D;ENSP00000432803:A411D;ENSP00000431988:A411D;ENSP00000431647:A411D;ENSP00000436641:A411D	ENSP00000338481:A411D	A	-	2	0	EPB41L2	131262328	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.813000	0.99286	2.657000	0.90304	0.655000	0.94253	GCC	EPB41L2	-	pirsf_Band_41_protein,pfscan_FERM_domain	ENSG00000079819		0.438	EPB41L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPB41L2	HGNC	protein_coding	OTTHUMT00000042204.3		0.00	17	0	G			131220635	-1			no_errors	ENST00000337057	ensembl	human	known	74_37	missense	5.06	75	4	SNP	1.000	T
EPB41L3	23136	genome.wustl.edu	37	18	5445189	5445189	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr18:5445189G>T	ENST00000341928.2	-	4	776	c.436C>A	c.(436-438)Cta>Ata	p.L146I	EPB41L3_ENST00000400111.3_Missense_Mutation_p.L146I|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000342933.3_Missense_Mutation_p.L146I|EPB41L3_ENST00000540638.2_Missense_Mutation_p.L146I|EPB41L3_ENST00000544123.1_Missense_Mutation_p.L146I	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	146	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						TCTTTCTCTAGCAAGTTCAAG	0.393																																																	0													197.0	156.0	170.0					18																	5445189		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.436C>A	18.37:g.5445189G>T	ENSP00000343158:p.Leu146Ile		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.L146I	ENST00000341928.2	37	c.436	CCDS11838.1	18	.	.	.	.	.	.	.	.	.	.	G	24.1	4.496771	0.85069	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000342933;ENST00000400111;ENST00000542652	T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98	5.82	4.84	0.62591	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);	0.000000	0.64402	D	0.000001	T	0.78509	0.4294	L	0.49699	1.58	0.80722	D	1	P;B;D;D;B	0.58620	0.951;0.306;0.983;0.979;0.19	D;B;D;D;P	0.83275	0.981;0.401;0.996;0.993;0.694	T	0.76990	-0.2754	10	0.41790	T	0.15	.	4.65	0.12591	0.2794:0.0:0.7206:0.0	.	146;146;37;146;146	F5GX05;Q9Y2J2-3;A8K968;Q9Y2J2-2;Q9Y2J2	.;.;.;.;E41L3_HUMAN	I	146;37;146;37;146;146;227	ENSP00000343158:L146I;ENSP00000441174:L146I;ENSP00000341138:L146I;ENSP00000382981:L146I	ENSP00000343158:L146I	L	-	1	2	EPB41L3	5435189	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.751000	0.62169	2.753000	0.94483	0.467000	0.42956	CTA	EPB41L3	-	pirsf_Band_41_protein,pfam_FERM_N,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam	ENSG00000082397		0.393	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPB41L3	HGNC	protein_coding	OTTHUMT00000254424.1		0.00	22	0	G	NM_012307		5445189	-1			no_errors	ENST00000341928	ensembl	human	known	74_37	missense	6.35	59	4	SNP	1.000	T
EPRS	2058	genome.wustl.edu	37	1	220195820	220195820	+	Silent	SNP	T	T	C			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr1:220195820T>C	ENST00000366923.3	-	9	1253	c.984A>G	c.(982-984)aaA>aaG	p.K328K		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	328	Glutamate--tRNA ligase.				cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|negative regulation of translation (GO:0017148)|prolyl-tRNA aminoacylation (GO:0006433)|protein complex assembly (GO:0006461)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|GAIT complex (GO:0097452)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|proline-tRNA ligase activity (GO:0004827)|RNA stem-loop binding (GO:0035613)			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Proline(DB00172)	ACTGGCTCCCTTTTTTCATTT	0.348																																																	0													188.0	175.0	179.0					1																	220195820		2203	4300	6503	SO:0001819	synonymous_variant	0			X54326	CCDS31027.1	1q41	2011-07-01			ENSG00000136628	ENSG00000136628	6.1.1.15, 6.1.1.17	"""Aminoacyl tRNA synthetases / Class I"", ""Aminoacyl tRNA synthetases / Class II"""	3418	protein-coding gene	gene with protein product	"""glutamate tRNA ligase"", ""proline tRNA ligase"""	138295		QPRS, QARS		1988429	Standard	NM_004446		Approved	EARS, PARS, GLUPRORS	uc001hly.1	P07814	OTTHUMG00000037433	ENST00000366923.3:c.984A>G	1.37:g.220195820T>C			A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Silent	SNP	pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,pfam_WHEP-TRS,pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Pro-tRNA_ligase_II_C,pfam_Anticodon-bd,superfamily_Ribosomal_L25/Gln-tRNA_synth,superfamily_Anticodon-bd,superfamily_Pro-tRNA_synth_II,superfamily_S15_NS1_RNA-bd,superfamily_Glutathione-S-Trfase_C-like,smart_Pro-tRNA_ligase_II_C,prints_Glu/Gln-tRNA-synth,prints_Pro-tRNA-ligase_IIa,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,tigrfam_Pro-tRNA-ligase_IIa_arc-type,tigrfam_Glu-tRNA-synth_arc/euk	p.K328	ENST00000366923.3	37	c.984	CCDS31027.1	1																																																																																			EPRS	-	pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,tigrfam_Glu-tRNA-synth_arc/euk	ENSG00000136628		0.348	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPRS	HGNC	protein_coding	OTTHUMT00000091133.2		0.00	26	0	T	NM_004446		220195820	-1			no_errors	ENST00000366923	ensembl	human	known	74_37	silent	6.15	61	4	SNP	0.992	C
ERC2	26059	genome.wustl.edu	37	3	56026193	56026193	+	Missense_Mutation	SNP	C	C	G	rs375730540		TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr3:56026193C>G	ENST00000288221.6	-	11	2402	c.2147G>C	c.(2146-2148)cGc>cCc	p.R716P		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	716						cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		ACACTCGTCGCGGTAGTAAGA	0.473																																																	0													192.0	186.0	188.0					3																	56026193		1910	4127	6037	SO:0001583	missense	0			AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.2147G>C	3.37:g.56026193C>G	ENSP00000288221:p.Arg716Pro		Q2T9F6|Q86TK4	Missense_Mutation	SNP	pfam_CAZ_cplx_RIM-bd_prot,superfamily_Prefoldin	p.R716P	ENST00000288221.6	37	c.2147	CCDS46851.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.58|18.58	3.654060|3.654060	0.67472|0.67472	.|.	.|.	ENSG00000187672|ENSG00000187672	ENST00000492584|ENST00000288221	.|T	.|0.49139	.|0.79	5.69|5.69	5.69|5.69	0.88448|0.88448	.|.	.|0.049024	.|0.85682	.|D	.|0.000000	T|T	0.59046|0.59046	0.2165|0.2165	M|M	0.70275|0.70275	2.135|2.135	0.44373|0.44373	D|D	0.997278|0.997278	.|P	.|0.50819	.|0.939	.|P	.|0.47827	.|0.558	T|T	0.63470|0.63470	-0.6630|-0.6630	5|10	.|0.66056	.|D	.|0.02	-8.2645|-8.2645	19.824|19.824	0.96608|0.96608	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|716	.|O15083	.|ERC2_HUMAN	P|P	367|716	.|ENSP00000288221:R716P	.|ENSP00000288221:R716P	A|R	-|-	1|2	0|0	ERC2|ERC2	56001233|56001233	0.999000|0.999000	0.42202|0.42202	0.996000|0.996000	0.52242|0.52242	0.908000|0.908000	0.53690|0.53690	3.877000|3.877000	0.56123|0.56123	2.699000|2.699000	0.92147|0.92147	0.591000|0.591000	0.81541|0.81541	GCG|CGC	ERC2	-	pfam_CAZ_cplx_RIM-bd_prot	ENSG00000187672		0.473	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERC2	HGNC	protein_coding	OTTHUMT00000350884.2	-	0.00	54	0	C	NM_015576		56026193	-1	tier1	-	no_errors	ENST00000288221	ensembl	human	known	74_37	missense	41.27	37	26	SNP	0.998	G
ERMP1	79956	genome.wustl.edu	37	9	5805118	5805118	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr9:5805118G>T	ENST00000339450.5	-	10	1912	c.1823C>A	c.(1822-1824)cCt>cAt	p.P608H	ERMP1_ENST00000543230.1_Missense_Mutation_p.P186H|ERMP1_ENST00000381506.3_Intron|ERMP1_ENST00000214893.5_5'UTR	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN	endoplasmic reticulum metallopeptidase 1	608						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)		CCCGAGGATAGGGGTAAACAT	0.418																																																	0													92.0	84.0	87.0					9																	5805118		2203	4300	6503	SO:0001583	missense	0			AB058718	CCDS34983.1	9p24	2008-02-05	2007-07-05	2007-07-05	ENSG00000099219	ENSG00000099219			23703	protein-coding gene	gene with protein product	"""Felix-ina"""	611156	"""KIAA1815"""	KIAA1815		11347906	Standard	XM_005251587		Approved	FLJ23309, FXNA	uc003zjm.1	Q7Z2K6	OTTHUMG00000019508	ENST00000339450.5:c.1823C>A	9.37:g.5805118G>T	ENSP00000340427:p.Pro608His		B2RNA4|B3KSB1|Q8N5T5|Q9H5M1	Missense_Mutation	SNP	pfam_Peptidase_M28,pfam_Peptidase_M20	p.P608H	ENST00000339450.5	37	c.1823	CCDS34983.1	9	.	.	.	.	.	.	.	.	.	.	G	25.1	4.600103	0.87055	.	.	ENSG00000099219	ENST00000339450;ENST00000543230	T;T	0.49139	0.79;0.79	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.69557	0.3124	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.71027	-0.4711	10	0.87932	D	0	-21.2506	19.8326	0.96642	0.0:0.0:1.0:0.0	.	608	Q7Z2K6	ERMP1_HUMAN	H	608;186	ENSP00000340427:P608H;ENSP00000439368:P186H	ENSP00000340427:P608H	P	-	2	0	ERMP1	5795118	1.000000	0.71417	0.911000	0.35937	0.915000	0.54546	9.476000	0.97823	2.686000	0.91538	0.591000	0.81541	CCT	ERMP1	-	NULL	ENSG00000099219		0.418	ERMP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ERMP1	HGNC	protein_coding	OTTHUMT00000354877.1		0.00	12	0	G	NM_024896		5805118	-1			no_errors	ENST00000339450	ensembl	human	known	74_37	missense	7.32	38	3	SNP	1.000	T
EXOC1	55763	genome.wustl.edu	37	4	56759756	56759756	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr4:56759756G>T	ENST00000381295.2	+	15	2111	c.1763G>T	c.(1762-1764)cGc>cTc	p.R588L	EXOC1_ENST00000346134.7_Missense_Mutation_p.R588L|EXOC1_ENST00000349598.6_Missense_Mutation_p.R573L	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	588					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					AAAATATTTCGCTGCATTGAG	0.348																																																	0													103.0	102.0	103.0					4																	56759756		2203	4300	6503	SO:0001583	missense	0			AK027047	CCDS3502.1, CCDS3503.1	4q12	2013-01-22	2005-11-01	2005-11-01	ENSG00000090989	ENSG00000090989			30380	protein-coding gene	gene with protein product		607879	"""SEC3-like 1 (S. cerevisiae)"""	SEC3L1		11042152, 11406615	Standard	XM_005265747		Approved	SEC3, FLJ10893, BM-102, Sec3p	uc003hbf.1	Q9NV70	OTTHUMG00000102165	ENST00000381295.2:c.1763G>T	4.37:g.56759756G>T	ENSP00000370695:p.Arg588Leu		Q504V4|Q8WUE7|Q96T15|Q9NZE4	Missense_Mutation	SNP	pfam_Exocyst_Exoc1/SEC3	p.R588L	ENST00000381295.2	37	c.1763	CCDS3502.1	4	.	.	.	.	.	.	.	.	.	.	G	15.61	2.883623	0.51908	.	.	ENSG00000090989	ENST00000381295;ENST00000346134;ENST00000349598	.	.	.	5.91	5.91	0.95273	.	0.049918	0.85682	D	0.000000	T	0.56426	0.1984	N	0.22421	0.69	0.58432	D	0.999999	B;B	0.26483	0.15;0.055	B;B	0.34138	0.072;0.176	T	0.50659	-0.8802	9	0.37606	T	0.19	.	20.2963	0.98556	0.0:0.0:1.0:0.0	.	573;588	Q9NV70-2;Q9NV70	.;EXOC1_HUMAN	L	588;588;573	.	ENSP00000326514:R588L	R	+	2	0	EXOC1	56454513	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.135000	0.71696	2.813000	0.96785	0.655000	0.94253	CGC	EXOC1	-	pfam_Exocyst_Exoc1/SEC3	ENSG00000090989		0.348	EXOC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	EXOC1	HGNC	protein_coding	OTTHUMT00000361799.1		0.00	18	0	G	NM_018261		56759756	+1			no_errors	ENST00000346134	ensembl	human	known	74_37	missense	5.88	64	4	SNP	1.000	T
EXOC3L4	91828	genome.wustl.edu	37	14	103573188	103573188	+	Silent	SNP	C	C	A			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr14:103573188C>A	ENST00000380069.3	+	7	1609	c.1533C>A	c.(1531-1533)acC>acA	p.T511T		NM_001077594.1	NP_001071062.1	Q17RC7	EX3L4_HUMAN	exocyst complex component 3-like 4	511					exocytosis (GO:0006887)	exocyst (GO:0000145)				cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1)	10						TGACGGCCACCTGCAGCTTCC	0.632																																																	0													38.0	36.0	37.0					14																	103573188		2202	4296	6498	SO:0001819	synonymous_variant	0			AK000671	CCDS32163.1	14q32.32	2011-01-31	2011-01-31	2011-01-31	ENSG00000205436	ENSG00000205436			20120	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 73"""	C14orf73			Standard	NM_001077594		Approved		uc001ymk.3	Q17RC7		ENST00000380069.3:c.1533C>A	14.37:g.103573188C>A			Q14CR2	Silent	SNP	pfam_Sec6	p.T511	ENST00000380069.3	37	c.1533	CCDS32163.1	14																																																																																			EXOC3L4	-	pfam_Sec6	ENSG00000205436		0.632	EXOC3L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC3L4	HGNC	protein_coding	OTTHUMT00000415663.1		0.00	115	0	C	XM_941093		103573188	+1			no_errors	ENST00000380069	ensembl	human	known	74_37	silent	12.50	28	4	SNP	0.000	A
EYS	346007	genome.wustl.edu	37	6	66005917	66005917	+	Missense_Mutation	SNP	A	A	C			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr6:66005917A>C	ENST00000370621.3	-	12	2388	c.1862T>G	c.(1861-1863)cTg>cGg	p.L621R	EYS_ENST00000370616.2_Missense_Mutation_p.L621R|EYS_ENST00000503581.1_Missense_Mutation_p.L621R			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	621					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.L621Q(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						CGAAAGGGCCAGGCAGAGGCC	0.433																																																	1	Substitution - Missense(1)	prostate(1)											144.0	112.0	121.0					6																	66005917		692	1590	2282	SO:0001583	missense	0				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.1862T>G	6.37:g.66005917A>C	ENSP00000359655:p.Leu621Arg		A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.L621R	ENST00000370621.3	37	c.1862		6	.	.	.	.	.	.	.	.	.	.	.	14.43	2.532609	0.45073	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616	T;T;T	0.81078	-1.45;-1.45;-1.45	5.48	0.241	0.15494	.	.	.	.	.	T	0.53142	0.1778	N	0.20986	0.625	0.09310	N	1	P	0.47302	0.893	P	0.51135	0.66	T	0.49399	-0.8944	9	0.21540	T	0.41	.	3.4992	0.07666	0.4284:0.0:0.1576:0.414	.	621	Q5T1H1-1	.	R	621	ENSP00000424243:L621R;ENSP00000359655:L621R;ENSP00000359650:L621R	ENSP00000359650:L621R	L	-	2	0	EYS	66062638	0.198000	0.23374	0.000000	0.03702	0.013000	0.08279	0.527000	0.22987	-0.179000	0.10654	-0.326000	0.08463	CTG	EYS	-	NULL	ENSG00000188107		0.433	EYS-001	KNOWN	basic	protein_coding	EYS	HGNC	protein_coding	OTTHUMT00000351351.3		0.00	14	0	A	XM_294050		66005917	-1			no_errors	ENST00000370616	ensembl	human	known	74_37	missense	14.81	23	4	SNP	0.000	C
FAM208B	54906	genome.wustl.edu	37	10	5766427	5766427	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr10:5766427G>T	ENST00000328090.5	+	8	907	c.282G>T	c.(280-282)gaG>gaT	p.E94D	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	94																	ATTTGTATGAGGTAGAACTGT	0.269																																																	0													61.0	62.0	62.0					10																	5766427		1787	4041	5828	SO:0001583	missense	0			BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 18"""	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.282G>T	10.37:g.5766427G>T	ENSP00000328426:p.Glu94Asp		Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP	pfam_DUF3715,pfam_DUF3699	p.E94D	ENST00000328090.5	37	c.282	CCDS41485.1	10	.	.	.	.	.	.	.	.	.	.	G	15.69	2.907829	0.52333	.	.	ENSG00000108021	ENST00000328090;ENST00000442808	T	0.19105	2.17	5.78	-1.45	0.08828	.	0.102269	0.42821	N	0.000643	T	0.18882	0.0453	M	0.65975	2.015	0.26075	N	0.981161	B	0.29162	0.235	B	0.32465	0.146	T	0.15009	-1.0452	10	0.52906	T	0.07	.	4.6965	0.12806	0.5591:0.0:0.278:0.1629	.	94	Q5VWN6	F208B_HUMAN	D	94	ENSP00000328426:E94D	ENSP00000328426:E94D	E	+	3	2	C10orf18	5806433	0.973000	0.33851	0.970000	0.41538	0.989000	0.77384	0.001000	0.13038	-0.128000	0.11641	0.650000	0.86243	GAG	FAM208B	-	pfam_DUF3699	ENSG00000108021		0.269	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM208B	HGNC	protein_coding	OTTHUMT00000046571.2	-	0.00	29	0	G	NM_017782		5766427	+1	tier1	-	no_errors	ENST00000328090	ensembl	human	known	74_37	missense	5.15	129	7	SNP	0.985	T
FAM170B	170370	genome.wustl.edu	37	10	50339820	50339820	+	Silent	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr10:50339820G>T	ENST00000311787.5	-	2	779	c.690C>A	c.(688-690)ggC>ggA	p.G230G	FAM170B-AS1_ENST00000442525.1_RNA|FAM170B-AS1_ENST00000443389.1_RNA|FAM170B-AS1_ENST00000435809.1_RNA	NM_001164484.1	NP_001157956.1	A6NMN3	F170B_HUMAN	family with sequence similarity 170, member B	230										central_nervous_system(1)|endometrium(1)|skin(1)	3						GACAGCTGAAGCCCTCCCGGA	0.617																																																	0													57.0	51.0	53.0					10																	50339820		692	1591	2283	SO:0001819	synonymous_variant	0				CCDS53536.1	10q11.23	2008-11-06	2008-06-12	2008-06-12	ENSG00000172538	ENSG00000172538			19736	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 73"""	C10orf73			Standard	NM_001164484		Approved	Em:AC084727.4	uc001jhj.3	A6NMN3	OTTHUMG00000018187	ENST00000311787.5:c.690C>A	10.37:g.50339820G>T			Q86WY6|Q8N6K8	Silent	SNP	NULL	p.G230	ENST00000311787.5	37	c.690	CCDS53536.1	10																																																																																			FAM170B	-	NULL	ENSG00000172538		0.617	FAM170B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM170B	HGNC	protein_coding	OTTHUMT00000047974.1		0.00	78	0	G	XM_096317		50339820	-1			no_errors	ENST00000311787	ensembl	human	known	74_37	silent	8.57	32	3	SNP	1.000	T
FAM149B1	317662	genome.wustl.edu	37	10	74952433	74952433	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr10:74952433G>T	ENST00000242505.6	+	4	576	c.402G>T	c.(400-402)tgG>tgT	p.W134C	Y_RNA_ENST00000362331.1_RNA	NM_173348.1	NP_775483.1	Q96BN6	F149B_HUMAN	family with sequence similarity 149, member B1	134										breast(2)|endometrium(1)|kidney(1)|stomach(3)	7						GCCAACAGTGGACAGCTAGCT	0.393																																																	0													95.0	83.0	87.0					10																	74952433		692	1591	2283	SO:0001583	missense	0			AB023191	CCDS44435.1	10q22.2	2008-10-27	2007-11-14	2007-11-14	ENSG00000138286	ENSG00000138286			29162	protein-coding gene	gene with protein product			"""KIAA0974"""	KIAA0974		10231032	Standard	NM_173348		Approved		uc009xqz.3	Q96BN6	OTTHUMG00000067794	ENST00000242505.6:c.402G>T	10.37:g.74952433G>T	ENSP00000242505:p.Trp134Cys		Q9Y2I0	Missense_Mutation	SNP	pfam_DUF3719	p.W134C	ENST00000242505.6	37	c.402	CCDS44435.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.54|19.54	3.847575|3.847575	0.71603|0.71603	.|.	.|.	ENSG00000138286|ENSG00000138286	ENST00000372955|ENST00000242505	.|D	.|0.95656	.|-3.77	5.64|5.64	5.64|5.64	0.86602|0.86602	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.97794|0.97794	0.9276|0.9276	M|M	0.82716|0.82716	2.605|2.605	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|1.0;1.0;0.999	D|D	0.98408|0.98408	1.0571|1.0571	5|10	.|0.87932	.|D	.|0	-13.0981|-13.0981	17.2007|17.2007	0.86906|0.86906	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|112;134;134	.|B4E0M2;Q96BN6;Q96BN6-2	.|.;F149B_HUMAN;.	V|C	75|134	.|ENSP00000242505:W134C	.|ENSP00000242505:W134C	G|W	+|+	2|3	0|0	FAM149B1|FAM149B1	74622439|74622439	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	6.422000|6.422000	0.73357|0.73357	2.654000|2.654000	0.90174|0.90174	0.563000|0.563000	0.77884|0.77884	GGA|TGG	FAM149B1	-	pfam_DUF3719	ENSG00000138286		0.393	FAM149B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM149B1	HGNC	protein_coding	OTTHUMT00000145438.1		0.00	16	0	G	NM_173348		74952433	+1			no_errors	ENST00000242505	ensembl	human	known	74_37	missense	7.69	48	4	SNP	1.000	T
FAM222A	84915	genome.wustl.edu	37	12	110205964	110205964	+	Missense_Mutation	SNP	G	G	A			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr12:110205964G>A	ENST00000538780.1	+	3	946	c.230G>A	c.(229-231)cGc>cAc	p.R77H	FAM222A-AS1_ENST00000541460.1_RNA|FAM222A-AS1_ENST00000541723.1_RNA|FAM222A_ENST00000358906.3_Missense_Mutation_p.R77H	NM_032829.2	NP_116218.2	Q5U5X8	F222A_HUMAN	family with sequence similarity 222, member A	77																	CACCTCAGCCGCACAGTCAAT	0.617																																																	0													103.0	65.0	78.0					12																	110205964		2203	4300	6503	SO:0001583	missense	0			AK027627	CCDS9133.1	12q24.11	2012-04-27	2012-04-27	2012-04-27	ENSG00000139438	ENSG00000139438			25915	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 34"""	C12orf34		12477932	Standard	NM_032829		Approved	FLJ14721	uc001tpd.2	Q5U5X8	OTTHUMG00000169260	ENST00000538780.1:c.230G>A	12.37:g.110205964G>A	ENSP00000443292:p.Arg77His		Q8NCD5|Q96SP6	Missense_Mutation	SNP	NULL	p.R77H	ENST00000538780.1	37	c.230	CCDS9133.1	12	.	.	.	.	.	.	.	.	.	.	G	21.1	4.101274	0.76983	.	.	ENSG00000139438	ENST00000538780;ENST00000358906	T;T	0.50001	0.76;0.76	3.26	3.26	0.37387	.	0.129703	0.52532	D	0.000064	T	0.67439	0.2893	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.73408	-0.3992	10	0.87932	D	0	-25.392	13.2234	0.59901	0.0:0.0:1.0:0.0	.	77	Q5U5X8	CL034_HUMAN	H	77	ENSP00000443292:R77H;ENSP00000351783:R77H	ENSP00000351783:R77H	R	+	2	0	C12orf34	108690347	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.112000	0.94314	1.653000	0.50694	0.305000	0.20034	CGC	FAM222A	-	NULL	ENSG00000139438		0.617	FAM222A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM222A	HGNC	protein_coding	OTTHUMT00000403175.1	-	0.00	93	0	G	NM_032829		110205964	+1	tier1	-	no_errors	ENST00000358906	ensembl	human	known	74_37	missense	8.00	46	4	SNP	1.000	A
FAM47C	442444	genome.wustl.edu	37	X	37027451	37027451	+	Missense_Mutation	SNP	C	C	A			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chrX:37027451C>A	ENST00000358047.3	+	1	1020	c.968C>A	c.(967-969)tCt>tAt	p.S323Y		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	323								p.S323F(2)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CCAGAGCCTTCTGAGACTGGA	0.612																																																	2	Substitution - Missense(2)	lung(2)											89.0	80.0	83.0					X																	37027451		2202	4300	6502	SO:0001583	missense	0			AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.968C>A	X.37:g.37027451C>A	ENSP00000367913:p.Ser323Tyr		Q6ZU46	Missense_Mutation	SNP	NULL	p.S323Y	ENST00000358047.3	37	c.968	CCDS35227.1	X	.	.	.	.	.	.	.	.	.	.	c	10.70	1.422895	0.25639	.	.	ENSG00000198173	ENST00000358047	T	0.14266	2.52	0.951	0.951	0.19579	.	.	.	.	.	T	0.17619	0.0423	L	0.34521	1.04	0.19945	N	0.999947	D	0.57571	0.98	P	0.55713	0.782	T	0.13495	-1.0507	9	0.72032	D	0.01	.	7.6353	0.28264	0.0:0.9999:0.0:1.0E-4	.	323	Q5HY64	FA47C_HUMAN	Y	323	ENSP00000367913:S323Y	ENSP00000367913:S323Y	S	+	2	0	FAM47C	36937372	0.000000	0.05858	0.008000	0.14137	0.008000	0.06430	0.284000	0.18864	0.181000	0.19994	0.183000	0.17082	TCT	FAM47C	-	NULL	ENSG00000198173		0.612	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM47C	HGNC	protein_coding	OTTHUMT00000060508.1	-	0.00	198	0	C	NM_001013736		37027451	+1	tier1	-	no_errors	ENST00000358047	ensembl	human	known	74_37	missense	78.12	14	50	SNP	0.994	A
FAT3	120114	genome.wustl.edu	37	11	92087160	92087160	+	Missense_Mutation	SNP	C	C	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr11:92087160C>T	ENST00000298047.6	+	1	1899	c.1882C>T	c.(1882-1884)Cca>Tca	p.P628S	FAT3_ENST00000409404.2_Missense_Mutation_p.P628S|FAT3_ENST00000541502.1_Missense_Mutation_p.P628S|FAT3_ENST00000525166.1_Missense_Mutation_p.P478S			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	628	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TTATTTAAACCCAGATTCTGG	0.363										TCGA Ovarian(4;0.039)																																							0													35.0	35.0	35.0					11																	92087160		1829	4071	5900	SO:0001583	missense	0			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.1882C>T	11.37:g.92087160C>T	ENSP00000298047:p.Pro628Ser		B5MDB0|Q96AU6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.P628S	ENST00000298047.6	37	c.1882		11	.	.	.	.	.	.	.	.	.	.	C	15.04	2.715903	0.48622	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	T;T;T;T	0.38077	1.16;1.16;1.16;1.16	5.74	5.74	0.90152	.	.	.	.	.	T	0.47691	0.1459	L	0.34521	1.04	0.58432	D	0.999991	D	0.76494	0.999	P	0.62491	0.903	T	0.18209	-1.0344	9	0.30078	T	0.28	.	18.8971	0.92427	0.0:1.0:0.0:0.0	.	628	Q8TDW7-3	.	S	628;628;628;478	ENSP00000298047:P628S;ENSP00000387040:P628S;ENSP00000443786:P628S;ENSP00000432586:P478S	ENSP00000298047:P628S	P	+	1	0	FAT3	91726808	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.755000	0.85180	2.709000	0.92574	0.591000	0.81541	CCA	FAT3	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000165323		0.363	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding		-	0.00	16	0	C	NM_001008781		92087160	+1	tier1	-	no_errors	ENST00000298047	ensembl	human	known	74_37	missense	36.67	19	11	SNP	1.000	T
FBF1	85302	genome.wustl.edu	37	17	73910884	73910884	+	Missense_Mutation	SNP	C	C	T	rs577460839|rs573986983	byFrequency	TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr17:73910884C>T	ENST00000586717.1	-	24	2989	c.2716G>A	c.(2716-2718)Gag>Aag	p.E906K	RP11-552F3.12_ENST00000587556.1_5'Flank|FBF1_ENST00000319129.5_Missense_Mutation_p.E905K|FBF1_ENST00000389570.4_Missense_Mutation_p.E906K			Q8TES7	FBF1_HUMAN	Fas (TNFRSF6) binding factor 1	906					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)				large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						AATGCCCGCTCGGCCTCGCGC	0.701													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15364	0.0		0.0	False		,,,				2504	0.0																0													13.0	19.0	17.0					17																	73910884		2089	4186	6275	SO:0001583	missense	0			AK074045	CCDS45779.1	17q25.3	2011-04-21			ENSG00000188878	ENSG00000188878			24674	protein-coding gene	gene with protein product	"""albatross"""					11347906	Standard	NM_001080542		Approved	FLJ00103, FBF-1, KIAA1863, ALB	uc002jqc.3	Q8TES7		ENST00000586717.1:c.2716G>A	17.37:g.73910884C>T	ENSP00000465132:p.Glu906Lys		B5MEM5|Q96IF6|Q96JG4|Q96MA8	Missense_Mutation	SNP	superfamily_HRDC-like	p.E906K	ENST00000586717.1	37	c.2716		17	.	.	.	.	.	.	.	.	.	.	C	17.17	3.320264	0.60634	.	.	ENSG00000188878	ENST00000389570;ENST00000319129;ENST00000427433	T;T	0.19394	2.15;2.15	5.58	5.58	0.84498	.	.	.	.	.	T	0.38746	0.1052	M	0.69823	2.125	0.39198	D	0.96308	D;D	0.65815	0.995;0.995	P;P	0.56751	0.805;0.805	T	0.24835	-1.0149	9	0.51188	T	0.08	-27.8549	12.5192	0.56050	0.0:0.9228:0.0:0.0772	.	920;905	Q8TES7-6;A6NLR5	.;.	K	906;905;919	ENSP00000374221:E906K;ENSP00000324292:E905K	ENSP00000324292:E905K	E	-	1	0	FBF1	71422479	0.999000	0.42202	0.947000	0.38551	0.048000	0.14542	4.032000	0.57274	2.619000	0.88677	0.650000	0.86243	GAG	FBF1	-	NULL	ENSG00000188878		0.701	FBF1-001	KNOWN	basic|appris_candidate	protein_coding	FBF1	HGNC	protein_coding	OTTHUMT00000448945.2	-	0.00	73	0	C	NM_001080542		73910884	-1	tier1	-	no_errors	ENST00000389570	ensembl	human	known	74_37	missense	63.89	13	23	SNP	0.965	T
FBN1	2200	genome.wustl.edu	37	15	48936984	48936984	+	5'UTR	SNP	G	G	A			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr15:48936984G>A	ENST00000316623.5	-	0	438				RP11-227D13.1_ENST00000558061.1_lincRNA|FBN1_ENST00000560355.1_5'UTR	NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1						extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		AGCCGCCACCGGCTCCCGCCG	0.736																																																	0													9.0	11.0	10.0					15																	48936984		2073	4064	6137	SO:0001623	5_prime_UTR_variant	0			X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.-18C>T	15.37:g.48936984G>A			B2RUU0|D2JYH6|Q15972|Q75N87	RNA	SNP	-	NULL	ENST00000316623.5	37	NULL	CCDS32232.1	15																																																																																			FBN1	-	-	ENSG00000166147		0.736	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN1	HGNC	protein_coding	OTTHUMT00000417355.1	-	0.00	37	0	G			48936984	-1	tier1	-	no_errors	ENST00000558230	ensembl	human	putative	74_37	rna	25.00	18	6	SNP	0.980	A
FBXO40	51725	genome.wustl.edu	37	3	121340592	121340592	+	Missense_Mutation	SNP	G	G	T	rs570315447		TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr3:121340592G>T	ENST00000338040.4	+	3	730	c.316G>T	c.(316-318)Gac>Tac	p.D106Y		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	106					muscle cell differentiation (GO:0042692)	cytoplasm (GO:0005737)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		GCCAAATGTGGACTCTGAAAC	0.582																																																	0													57.0	61.0	60.0					3																	121340592		2203	4300	6503	SO:0001583	missense	0			AF204674	CCDS33835.1	3q21.1	2004-08-24			ENSG00000163833	ENSG00000163833		"""F-boxes /  ""other"""""	29816	protein-coding gene	gene with protein product		609107				10574462	Standard	NM_016298		Approved	KIAA1195, Fbx40	uc003eeg.2	Q9UH90	OTTHUMG00000159410	ENST00000338040.4:c.316G>T	3.37:g.121340592G>T	ENSP00000337510:p.Asp106Tyr		B2RAX7|Q32M70|Q9ULM5	Missense_Mutation	SNP	superfamily_F-box_dom,superfamily_TRAF-like,pfscan_F-box_dom,pfscan_Znf_TRAF	p.D106Y	ENST00000338040.4	37	c.316	CCDS33835.1	3	.	.	.	.	.	.	.	.	.	.	G	12.38	1.920027	0.33908	.	.	ENSG00000163833	ENST00000338040	T	0.38240	1.15	5.47	5.47	0.80525	.	0.153882	0.64402	D	0.000018	T	0.52419	0.1733	L	0.45698	1.435	0.50171	D	0.999858	D	0.89917	1.0	D	0.72338	0.977	T	0.37267	-0.9713	10	0.28530	T	0.3	-25.2694	16.807	0.85708	0.0:0.0:1.0:0.0	.	106	Q9UH90	FBX40_HUMAN	Y	106	ENSP00000337510:D106Y	ENSP00000337510:D106Y	D	+	1	0	FBXO40	122823282	1.000000	0.71417	1.000000	0.80357	0.769000	0.43574	6.575000	0.74018	2.584000	0.87258	0.655000	0.94253	GAC	FBXO40	-	NULL	ENSG00000163833		0.582	FBXO40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO40	HGNC	protein_coding	OTTHUMT00000355158.1	-	0.00	49	0	G	NM_016298		121340592	+1	tier1	-	no_errors	ENST00000338040	ensembl	human	known	74_37	missense	12.90	27	4	SNP	0.997	T
FBXO41	150726	genome.wustl.edu	37	2	73495955	73495955	+	Silent	SNP	G	G	A			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr2:73495955G>A	ENST00000521871.1	-	2	1219	c.804C>T	c.(802-804)cgC>cgT	p.R268R	FBXO41_ENST00000520186.1_5'Flank|FBXO41_ENST00000520530.2_Silent_p.R268R|FBXO41_ENST00000295133.5_Silent_p.R329R			Q8TF61	FBX41_HUMAN	F-box protein 41	268										breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)	13						GCTCAGACGCGCGCTCCTCCA	0.687																																																	0													45.0	53.0	51.0					2																	73495955		2169	4242	6411	SO:0001819	synonymous_variant	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.804C>T	2.37:g.73495955G>A			G3V0Z7|Q2M1V8	Silent	SNP	superfamily_F-box_dom	p.R329	ENST00000521871.1	37	c.987	CCDS46337.2	2																																																																																			FBXO41	-	NULL	ENSG00000163013		0.687	FBXO41-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FBXO41	HGNC	protein_coding	OTTHUMT00000377381.1		0.00	23	0	G			73495955	-1			no_errors	ENST00000295133	ensembl	human	known	74_37	silent	20.00	8	2	SNP	0.022	A
FCGRT	2217	genome.wustl.edu	37	19	50028826	50028826	+	Silent	SNP	G	G	A			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr19:50028826G>A	ENST00000221466.5	+	6	1470	c.984G>A	c.(982-984)ctG>ctA	p.L328L	FCGRT_ENST00000596975.1_Silent_p.L236L|FCGRT_ENST00000426395.3_Silent_p.L328L|FCGRT_ENST00000599988.1_Silent_p.L62L|RCN3_ENST00000270645.3_5'Flank	NM_001136019.2	NP_001129491.1	P55899	FCGRN_HUMAN	Fc fragment of IgG, receptor, transporter, alpha	328					antigen processing and presentation (GO:0019882)|IgG immunoglobulin transcytosis in epithelial cells mediated by FcRn immunoglobulin receptor (GO:0002416)|immune response (GO:0006955)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	IgG binding (GO:0019864)			endometrium(3)|kidney(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	9		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156)		GGAGTGGGCTGCCAGGTGGGG	0.632																																																	0													40.0	36.0	37.0					19																	50028826		2203	4300	6503	SO:0001819	synonymous_variant	0			U12255	CCDS12770.1	19q13.3	2013-01-11				ENSG00000104870		"""Immunoglobulin superfamily / C1-set domain containing"""	3621	protein-coding gene	gene with protein product		601437				7964511, 8646894	Standard	NM_001136019		Approved	FCRN, alpha-chain	uc002pog.2	P55899		ENST00000221466.5:c.984G>A	19.37:g.50028826G>A			Q5HYM5|Q9HBV7|Q9NZ19	Silent	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom	p.L328	ENST00000221466.5	37	c.984	CCDS12770.1	19																																																																																			FCGRT	-	NULL	ENSG00000104870		0.632	FCGRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGRT	HGNC	protein_coding	OTTHUMT00000465267.1		0.00	86	0	G			50028826	+1			no_errors	ENST00000221466	ensembl	human	known	74_37	silent	7.55	49	4	SNP	0.953	A
FCN1	2219	genome.wustl.edu	37	9	137804889	137804889	+	Missense_Mutation	SNP	G	G	C			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr9:137804889G>C	ENST00000371806.3	-	6	532	c.441C>G	c.(439-441)gaC>gaG	p.D147E		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	147	A domain; contributes to trimerization.|Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell surface pattern recognition receptor signaling pathway (GO:0002752)|complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|opsonization (GO:0008228)|positive regulation of interleukin-8 secretion (GO:2000484)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extrinsic component of external side of plasma membrane (GO:0031232)	antigen binding (GO:0003823)|calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|G-protein coupled receptor binding (GO:0001664)|signaling pattern recognition receptor activity (GO:0008329)			endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		CCGTGTCCATGTCACAGAGCA	0.662																																																	0													31.0	32.0	31.0					9																	137804889		2202	4296	6498	SO:0001583	missense	0			D83920	CCDS6985.1	9q34	2013-02-06	2002-01-14		ENSG00000085265	ENSG00000085265		"""Fibrinogen C domain containing"""	3623	protein-coding gene	gene with protein product		601252	"""ficolin (collagen/fibrinogen domain-containing) 1"""			8573080, 8884275	Standard	NM_002003		Approved	FCNM	uc004cfi.3	O00602	OTTHUMG00000020895	ENST00000371806.3:c.441C>G	9.37:g.137804889G>C	ENSP00000360871:p.Asp147Glu		Q5VYV5|Q92596	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C_dom,pfam_Collagen,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	p.D147E	ENST00000371806.3	37	c.441	CCDS6985.1	9	.	.	.	.	.	.	.	.	.	.	G	15.03	2.713065	0.48517	.	.	ENSG00000085265	ENST00000371807;ENST00000371806;ENST00000308299	T	0.26957	1.7	3.39	2.46	0.29980	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	.	.	.	.	T	0.40670	0.1126	L	0.60012	1.86	0.49213	D	0.999763	D	0.69078	0.997	D	0.76575	0.988	T	0.20638	-1.0269	9	0.87932	D	0	.	5.9354	0.19163	0.2505:0.0:0.7495:0.0	.	147	O00602	FCN1_HUMAN	E	147;147;135	ENSP00000360871:D147E	ENSP00000308877:D135E	D	-	3	2	FCN1	136944710	1.000000	0.71417	0.998000	0.56505	0.394000	0.30568	2.823000	0.48081	0.719000	0.32188	0.549000	0.68633	GAC	FCN1	-	pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	ENSG00000085265		0.662	FCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCN1	HGNC	protein_coding	OTTHUMT00000054963.1	-	0.00	203	0	G	NM_002003		137804889	-1	tier1	-	no_errors	ENST00000371806	ensembl	human	known	74_37	missense	58.59	53	75	SNP	1.000	C
FEZ1	9638	genome.wustl.edu	37	11	125315934	125315934	+	3'UTR	SNP	G	G	A			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr11:125315934G>A	ENST00000278919.3	-	0	1470				FEZ1_ENST00000527350.1_5'UTR	NM_005103.4	NP_005094.1	Q99689	FEZ1_HUMAN	fasciculation and elongation protein zeta 1 (zygin I)						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to growth factor stimulus (GO:0071363)|establishment of mitochondrion localization (GO:0051654)|nervous system development (GO:0007399)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|transport (GO:0006810)	axon (GO:0030424)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	24	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934)		CAGTCCCTGTGATGGAATGAC	0.532																																					Melanoma(180;509 2033 10762 15939 24711)												0													126.0	111.0	116.0					11																	125315934		692	1591	2283	SO:0001624	3_prime_UTR_variant	0			U60060	CCDS31716.1, CCDS44758.1	11q24.2	2005-09-29			ENSG00000149557	ENSG00000149557			3659	protein-coding gene	gene with protein product		604825				9096408, 15843383	Standard	NM_005103		Approved		uc001qbx.3	Q99689	OTTHUMG00000165886	ENST00000278919.3:c.*57C>T	11.37:g.125315934G>A			O00679|O00728|Q6IBI7	RNA	SNP	-	NULL	ENST00000278919.3	37	NULL	CCDS31716.1	11																																																																																			FEZ1	-	-	ENSG00000149557		0.532	FEZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FEZ1	HGNC	protein_coding	OTTHUMT00000386875.1	-	0.00	69	0	G	NM_005103		125315934	-1	tier1	-	no_errors	ENST00000526507	ensembl	human	known	74_37	rna	21.21	26	7	SNP	0.843	A
FFAR3	2865	genome.wustl.edu	37	19	35850416	35850416	+	Silent	SNP	G	G	T	rs146211359	byFrequency	TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr19:35850416G>T	ENST00000327809.4	+	2	825	c.624G>T	c.(622-624)gtG>gtT	p.V208V	FFAR3_ENST00000594310.1_Silent_p.V208V	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	free fatty acid receptor 3	208					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to fatty acid (GO:0071398)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|mucosal immune response (GO:0002385)|negative regulation of blood pressure (GO:0045776)|positive regulation of acute inflammatory response to non-antigenic stimulus (GO:0002879)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production involved in immune response (GO:0002720)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|regulation of hormone biosynthetic process (GO:0046885)|regulation of norepinephrine secretion (GO:0014061)|regulation of peptide hormone secretion (GO:0090276)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			GCCGCCTGGTGTGGATCCTCG	0.652																																					Esophageal Squamous(185;1742 2042 21963 24215 27871)												0													16.0	15.0	16.0					19																	35850416		2191	4236	6427	SO:0001819	synonymous_variant	0			AF024688	CCDS12459.1	19q13.1	2012-08-08	2006-02-15	2006-02-15	ENSG00000185897	ENSG00000185897		"""GPCR / Class A : Fatty acid receptors"""	4499	protein-coding gene	gene with protein product		603821	"""G protein-coupled receptor 41"""	GPR41		9344866, 22493486	Standard	NM_005304		Approved	FFA3R	uc002nzd.3	O14843	OTTHUMG00000172514	ENST00000327809.4:c.624G>T	19.37:g.35850416G>T			B2RWM8|Q14CM7	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_GPR40-rel_orph	p.V208	ENST00000327809.4	37	c.624	CCDS12459.1	19																																																																																			FFAR3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_GPR40-rel_orph	ENSG00000185897		0.652	FFAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FFAR3	HGNC	protein_coding	OTTHUMT00000418873.2	-	0.00	93	0	G	NM_005304		35850416	+1	tier1	-	no_errors	ENST00000327809	ensembl	human	known	74_37	silent	11.54	23	3	SNP	0.682	T
FHL1	2273	genome.wustl.edu	37	X	135288566	135288566	+	5'UTR	SNP	G	G	C			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chrX:135288566G>C	ENST00000345434.3	+	0	56				FHL1_ENST00000370676.3_Splice_Site_p.G8A|FHL1_ENST00000394153.2_5'UTR|FHL1_ENST00000394155.2_5'UTR|FHL1_ENST00000543669.1_5'UTR|FHL1_ENST00000535737.1_5'UTR|FHL1_ENST00000539015.1_Splice_Site_p.G21A|FHL1_ENST00000370690.3_5'UTR|FHL1_ENST00000477080.1_3'UTR|FHL1_ENST00000370683.1_Splice_Site_p.G8A			Q13642	FHL1_HUMAN	four and a half LIM domains 1						cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)|organ morphogenesis (GO:0009887)|positive regulation of potassium ion transport (GO:0043268)|regulation of membrane depolarization (GO:0003254)|regulation of potassium ion transmembrane transporter activity (GO:1901016)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ion channel binding (GO:0044325)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(192;0.000127)					GCCCCCGCAGGTCCCTCCAGC	0.587																																																	0													99.0	94.0	96.0					X																	135288566		2203	4300	6503	SO:0001623	5_prime_UTR_variant	0			U60115	CCDS14655.1, CCDS55505.1, CCDS55506.1, CCDS55507.1, CCDS76036.1	Xq26.3	2014-09-17			ENSG00000022267	ENSG00000022267			3702	protein-coding gene	gene with protein product	"""Four-and-a-half LIM domains 1"", ""LIM protein SLIMMER"""	300163				8753811, 9714789	Standard	NM_001449		Approved	SLIM1, KYO-T, bA535K18.1, FHL1B, XMPMA, FLH1A, MGC111107	uc004ezo.3	Q13642	OTTHUMG00000022504	ENST00000345434.3:c.-26G>C	X.37:g.135288566G>C			B7Z5T4|B7Z793|O95212|Q13230|Q13645|Q5JXI7|Q5M7Y6|Q6IB30|Q9NZ40|Q9UKZ8|Q9Y630	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.G21A	ENST00000345434.3	37	c.62	CCDS55507.1	X	.	.	.	.	.	.	.	.	.	.	G	33	5.258728	0.95368	.	.	ENSG00000022267	ENST00000456218;ENST00000539015;ENST00000370683;ENST00000370676;ENST00000542704	T;T;T	0.63580	-0.05;0.03;0.01	5.73	5.73	0.89815	.	.	.	.	.	T	0.66046	0.2750	L	0.39898	1.24	0.80722	D	1	P;D	0.62365	0.937;0.991	P;P	0.51016	0.471;0.656	T	0.69720	-0.5069	9	0.87932	D	0	.	18.84	0.92180	0.0:0.0:1.0:0.0	.	21;8	B7Z793;B7Z5T4	.;.	A	32;21;8;8;8	ENSP00000437673:G21A;ENSP00000359717:G8A;ENSP00000359710:G8A	ENSP00000359710:G8A	G	+	2	0	FHL1	135116232	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.309000	0.78937	2.396000	0.81511	0.600000	0.82982	GGT	FHL1	-	NULL	ENSG00000022267		0.587	FHL1-002	KNOWN	basic|CCDS	protein_coding	FHL1	HGNC	protein_coding	OTTHUMT00000058461.1	-	0.00	37	0	G	NM_001449		135288566	+1	tier1	-	no_errors	ENST00000539015	ensembl	human	known	74_37	missense	100.00	0	14	SNP	1.000	C
FHOD1	29109	genome.wustl.edu	37	16	67263792	67263792	+	Nonsense_Mutation	SNP	C	C	A			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr16:67263792C>A	ENST00000258201.4	-	21	3563	c.3316G>T	c.(3316-3318)Gag>Tag	p.E1106*	AC040160.1_ENST00000454102.2_5'Flank|LRRC29_ENST00000341546.3_5'Flank|LRRC29_ENST00000462169.1_5'Flank|LRRC29_ENST00000409509.1_5'Flank	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	1106	DAD.				positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		TCCATGATCTCATCTGATGTA	0.572																																																	0													75.0	77.0	76.0					16																	67263792		2198	4300	6498	SO:0001587	stop_gained	0			AF113615	CCDS10834.1	16q22	2008-02-22			ENSG00000135723	ENSG00000135723			17905	protein-coding gene	gene with protein product		606881				10352228, 16112087	Standard	NM_013241		Approved	FHOS	uc002esl.3	Q9Y613	OTTHUMG00000137521	ENST00000258201.4:c.3316G>T	16.37:g.67263792C>A	ENSP00000258201:p.Glu1106*		Q59F76|Q6Y1F2|Q76MS8|Q8N521	Nonsense_Mutation	SNP	pfam_FH2_Formin,superfamily_ARM-type_fold,smart_FH2_Formin	p.E1106*	ENST00000258201.4	37	c.3316	CCDS10834.1	16	.	.	.	.	.	.	.	.	.	.	C	42	9.491949	0.99186	.	.	ENSG00000135723	ENST00000258201	.	.	.	5.46	5.46	0.80206	.	0.048995	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.0541	0.89358	0.0:1.0:0.0:0.0	.	.	.	.	X	1106	.	ENSP00000258201:E1106X	E	-	1	0	FHOD1	65821293	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.373000	0.79623	2.840000	0.97914	0.655000	0.94253	GAG	FHOD1	-	NULL	ENSG00000135723		0.572	FHOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FHOD1	HGNC	protein_coding	OTTHUMT00000268844.2	-	0.00	66	0	C			67263792	-1	tier1	-	no_errors	ENST00000258201	ensembl	human	known	74_37	nonsense	9.30	39	4	SNP	1.000	A
FICD	11153	genome.wustl.edu	37	12	108910800	108910800	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr12:108910800G>T	ENST00000552695.1	+	2	286	c.51G>T	c.(49-51)tgG>tgT	p.W17C	FICD_ENST00000552758.1_Missense_Mutation_p.W17C|FICD_ENST00000361549.2_Missense_Mutation_p.W17C	NM_007076.2	NP_009007.2	Q9BVA6	FICD_HUMAN	FIC domain containing	17					negative regulation of Rho GTPase activity (GO:0034259)|protein adenylylation (GO:0018117)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|protein adenylyltransferase activity (GO:0070733)			NS(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|upper_aerodigestive_tract(2)	15						AACCGAAATGGGTCTCGGTCT	0.627																																																	0													84.0	72.0	76.0					12																	108910800		2203	4300	6503	SO:0001583	missense	0			AF049611	CCDS9116.1	12q24.1	2007-12-05				ENSG00000198855			18416	protein-coding gene	gene with protein product	"""huntingtin interacting protein 13"", ""fic S-phase protein cell division homolog (E. coli)"""					9700202	Standard	NM_007076		Approved	HYPE, HIP13	uc001tmx.1	Q9BVA6		ENST00000552695.1:c.51G>T	12.37:g.108910800G>T	ENSP00000446479:p.Trp17Cys		O75406	Missense_Mutation	SNP	pfam_Fido,superfamily_Fido,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.W17C	ENST00000552695.1	37	c.51	CCDS9116.1	12	.	.	.	.	.	.	.	.	.	.	G	17.88	3.497206	0.64186	.	.	ENSG00000198855	ENST00000552695;ENST00000552758;ENST00000361549	.	.	.	5.35	5.35	0.76521	.	0.111909	0.64402	D	0.000003	T	0.76673	0.4020	L	0.57536	1.79	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.78792	-0.2065	9	0.87932	D	0	-15.8424	17.2451	0.87026	0.0:0.0:1.0:0.0	.	17	Q9BVA6	FICD_HUMAN	C	17	.	ENSP00000354421:W17C	W	+	3	0	FICD	107434930	1.000000	0.71417	1.000000	0.80357	0.542000	0.35054	5.358000	0.66064	2.489000	0.83994	0.655000	0.94253	TGG	FICD	-	NULL	ENSG00000198855		0.627	FICD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FICD	HGNC	protein_coding	OTTHUMT00000404842.1	-	0.00	58	0	G	NM_007076		108910800	+1	tier1	-	no_errors	ENST00000552695	ensembl	human	known	74_37	missense	15.38	22	4	SNP	1.000	T
FN1	2335	genome.wustl.edu	37	2	216237007	216237007	+	Silent	SNP	G	G	A			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr2:216237007G>A	ENST00000359671.1	-	39	6331	c.6066C>T	c.(6064-6066)ttC>ttT	p.F2022F	FN1_ENST00000443816.1_Silent_p.F1932F|FN1_ENST00000354785.4_Silent_p.F2113F|FN1_ENST00000323926.6_Silent_p.F2113F|FN1_ENST00000336916.4_Silent_p.F2022F|FN1_ENST00000432072.2_Intron|FN1_ENST00000346544.3_Intron|FN1_ENST00000357009.2_Intron|FN1_ENST00000421182.1_Silent_p.F1907F|FN1_ENST00000345488.5_Intron|FN1_ENST00000357867.4_Intron|FN1_ENST00000446046.1_Silent_p.F1997F|FN1_ENST00000356005.4_Silent_p.F1932F			P02751	FINC_HUMAN	fibronectin 1	2022	Connecting strand 3 (CS-3) (V region).				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	GGTGGGTGACGAAAGGGGTCT	0.507																																																	0													89.0	80.0	83.0					2																	216237007		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.6066C>T	2.37:g.216237007G>A			B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Silent	SNP	pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3	p.F2113	ENST00000359671.1	37	c.6339		2																																																																																			FN1	-	NULL	ENSG00000115414		0.507	FN1-204	KNOWN	basic	protein_coding	FN1	HGNC	protein_coding		-	0.00	36	0	G	NM_212476		216237007	-1	tier1	-	no_errors	ENST00000354785	ensembl	human	known	74_37	silent	27.27	32	12	SNP	1.000	A
LRRC53	100144878	genome.wustl.edu	37	1	74954930	74954930	+	Intron	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr1:74954930G>T	ENST00000294635.4	-	2	89				TNNI3K_ENST00000370891.2_Nonsense_Mutation_p.E828*|TNNI3K_ENST00000326637.3_Nonsense_Mutation_p.E727*|FPGT-TNNI3K_ENST00000557284.2_Nonsense_Mutation_p.E841*			A6NM62	LRC53_HUMAN	leucine rich repeat containing 53							integral component of membrane (GO:0016021)				NS(1)|breast(1)|lung(2)	4						CTGCAACATTGAGGTAAAAGC	0.373																																																	0													70.0	80.0	76.0					1																	74954930		2203	4300	6503	SO:0001627	intron_variant	0					1p31.3	2010-08-31			ENSG00000162621	ENSG00000162621			25255	protein-coding gene	gene with protein product							Standard			Approved			A6NM62	OTTHUMG00000009621	ENST00000294635.4:c.26-5871C>A	1.37:g.74954930G>T				Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E841*	ENST00000294635.4	37	c.2521		1	.	.	.	.	.	.	.	.	.	.	G	40	7.945583	0.98574	.	.	ENSG00000259030;ENSG00000116783;ENSG00000116783	ENST00000557284;ENST00000370891;ENST00000326637	.	.	.	4.85	4.85	0.62838	.	0.052267	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	18.9279	0.92552	0.0:0.0:1.0:0.0	.	.	.	.	X	828;828;727	.	ENSP00000322251:E727X	E	+	1	0	RP11-653A5.2;AC093158.1	74727518	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	8.839000	0.92120	2.637000	0.89404	0.644000	0.83932	GAG	FPGT-TNNI3K	-	superfamily_Kinase-like_dom	ENSG00000259030		0.373	LRRC53-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	FPGT-TNNI3K	HGNC	protein_coding	OTTHUMT00000026515.2		0.00	26	0	G			74954930	+1			no_errors	ENST00000557284	ensembl	human	known	74_37	nonsense	6.38	44	3	SNP	1.000	T
FRG1B	284802	genome.wustl.edu	37	20	29628278	29628278	+	Missense_Mutation	SNP	G	G	A			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr20:29628278G>A	ENST00000278882.3	+	6	660	c.280G>A	c.(280-282)Gca>Aca	p.A94T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A99T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A94T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	94										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGCAATGAAGCAGGGGACAT	0.373																																																	0																																										SO:0001583	missense	0					20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.280G>A	20.37:g.29628278G>A	ENSP00000278882:p.Ala94Thr		C4AME5	Missense_Mutation	SNP	pfam_FRG1,superfamily_Actin_cross-linking	p.A94T	ENST00000278882.3	37	c.280		20	.	.	.	.	.	.	.	.	.	.	g	9.994	1.231660	0.22626	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.44083	0.93	2.08	2.08	0.27032	Actin cross-linking (1);	0.286587	0.39083	N	0.001478	T	0.22898	0.0553	.	.	.	0.21290	N	0.99973	B;B	0.12630	0.0;0.006	B;B	0.12156	0.002;0.007	T	0.15407	-1.0438	9	0.16420	T	0.52	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	99;94	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	T	94;99;94	ENSP00000408863:A99T	ENSP00000278882:A94T	A	+	1	0	FRG1B	28241939	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	4.196000	0.58407	1.475000	0.48197	0.423000	0.28283	GCA	FRG1B	-	pfam_FRG1,superfamily_Actin_cross-linking	ENSG00000149531		0.373	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	FRG1B	HGNC	protein_coding	OTTHUMT00000078494.2	-	0.00	127	0	G	NR_003579		29628278	+1	tier1	-	no_errors	ENST00000278882	ensembl	human	known	74_37	missense	7.16	387	30	SNP	1.000	A
FRMD4A	55691	genome.wustl.edu	37	10	13699267	13699267	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr10:13699267G>T	ENST00000357447.2	-	22	2690	c.2322C>A	c.(2320-2322)gaC>gaA	p.D774E	FRMD4A_ENST00000378503.1_Missense_Mutation_p.D774E|FRMD4A_ENST00000358621.4_Missense_Mutation_p.D759E	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	774					establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						TGGACGGCGAGTCCTCGGCCA	0.711																																																	0													34.0	30.0	31.0					10																	13699267		2202	4297	6499	SO:0001583	missense	0			AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474			25491	protein-coding gene	gene with protein product			"""FERM domain containing 4"""	FRMD4		10718198	Standard	NM_018027		Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.2322C>A	10.37:g.13699267G>T	ENSP00000350032:p.Asp774Glu		A7E2Y3|Q5T377	Missense_Mutation	SNP	pfam_DUF3338,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam	p.D774E	ENST00000357447.2	37	c.2322	CCDS7101.1	10	.	.	.	.	.	.	.	.	.	.	G	18.60	3.659535	0.67586	.	.	ENSG00000151474	ENST00000358621;ENST00000357447;ENST00000378503	D;D;D	0.87029	-2.19;-2.2;-2.2	5.11	5.11	0.69529	.	0.042090	0.85682	D	0.000000	D	0.90167	0.6927	L	0.58101	1.795	0.51012	D	0.999909	D	0.76494	0.999	D	0.66196	0.942	D	0.90197	0.4254	10	0.66056	D	0.02	-28.3565	8.8178	0.35007	0.2134:0.0:0.7866:0.0	.	774	Q9P2Q2	FRM4A_HUMAN	E	759;774;774	ENSP00000351438:D759E;ENSP00000350032:D774E;ENSP00000367764:D774E	ENSP00000350032:D774E	D	-	3	2	FRMD4A	13739273	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	3.082000	0.50128	2.353000	0.79882	0.436000	0.28706	GAC	FRMD4A	-	NULL	ENSG00000151474		0.711	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FRMD4A	HGNC	protein_coding	OTTHUMT00000046889.1	-	0.00	98	0	G	NM_018027		13699267	-1	tier1	-	no_errors	ENST00000357447	ensembl	human	known	74_37	missense	5.88	64	4	SNP	1.000	T
FRMD7	90167	genome.wustl.edu	37	X	131261854	131261854	+	Missense_Mutation	SNP	G	G	C			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chrX:131261854G>C	ENST00000298542.4	-	1	194	c.19C>G	c.(19-21)Cag>Gag	p.Q7E	FRMD7_ENST00000464296.1_Missense_Mutation_p.Q7E	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	7	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				regulation of neuron projection development (GO:0010975)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					TCCAAAAACTGCACTTTTAAA	0.413																																																	0													99.0	92.0	94.0					X																	131261854		2203	4300	6503	SO:0001583	missense	0			AL161984	CCDS35397.1	Xq26.2	2014-09-17	2006-09-01	2006-09-01	ENSG00000165694	ENSG00000165694			8079	protein-coding gene	gene with protein product		300628	"""nystagmus 1, congenital"""	NYS, NYS1		2063919, 17013395	Standard	NM_194277		Approved	FLJ43346	uc004ewn.3	Q6ZUT3	OTTHUMG00000022421	ENST00000298542.4:c.19C>G	X.37:g.131261854G>C	ENSP00000298542:p.Gln7Glu		C0LLJ3|Q5JX99	Missense_Mutation	SNP	pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM-adjacent,pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,pfscan_FERM_domain	p.Q7E	ENST00000298542.4	37	c.19	CCDS35397.1	X	.	.	.	.	.	.	.	.	.	.	G	12.35	1.911055	0.33721	.	.	ENSG00000165694	ENST00000298542;ENST00000464296	T;T	0.75938	-0.98;-0.98	5.43	5.43	0.79202	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);	0.507092	0.20977	N	0.082282	T	0.82222	0.4990	M	0.62723	1.935	0.42590	D	0.993241	P;B	0.52577	0.954;0.024	D;B	0.67900	0.954;0.037	T	0.78669	-0.2114	10	0.20519	T	0.43	.	13.5629	0.61799	0.0:0.0:1.0:0.0	.	7;7	Q6ZUT3-2;Q6ZUT3	.;FRMD7_HUMAN	E	7	ENSP00000298542:Q7E;ENSP00000417996:Q7E	ENSP00000298542:Q7E	Q	-	1	0	FRMD7	131089535	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.305000	0.65750	2.267000	0.75376	0.600000	0.82982	CAG	FRMD7	-	pfam_FERM_N,smart_Band_41_domain,pfscan_FERM_domain	ENSG00000165694		0.413	FRMD7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FRMD7	HGNC	protein_coding	OTTHUMT00000355031.1	-	0.00	10	0	G	NM_194277		131261854	-1	tier1	-	no_errors	ENST00000298542	ensembl	human	known	74_37	missense	94.12	1	16	SNP	1.000	C
FUK	197258	genome.wustl.edu	37	16	70500056	70500056	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr16:70500056G>T	ENST00000288078.6	+	5	539	c.307G>T	c.(307-309)Gac>Tac	p.D103Y	FUK_ENST00000378912.2_Missense_Mutation_p.D135Y|FUK_ENST00000571514.1_Intron|FUK_ENST00000428974.2_Missense_Mutation_p.D86Y	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	103						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|fucokinase activity (GO:0050201)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				CCCCTTTGATGACTGTGGCAG	0.617																																																	0													69.0	73.0	72.0					16																	70500056		1951	4135	6086	SO:0001583	missense	0				CCDS10891.2	16q22.1	2008-02-05			ENSG00000157353	ENSG00000157353	2.7.1.52		29500	protein-coding gene	gene with protein product	"""L-fucose kinase"""	608675				12056818	Standard	XM_006721161		Approved	FLJ39408	uc002eyy.3	Q8N0W3	OTTHUMG00000074085	ENST00000288078.6:c.307G>T	16.37:g.70500056G>T	ENSP00000288078:p.Asp103Tyr		Q5PSM3|Q5XKL6|Q6ZRA0|Q96MT9	Missense_Mutation	SNP	pfam_Fucokinase,pfam_GHMP_kinase_C_dom,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Trimer_LpxA-like,prints_Galkinase	p.D135Y	ENST00000288078.6	37	c.403	CCDS10891.2	16	.	.	.	.	.	.	.	.	.	.	G	21.8	4.208482	0.79240	.	.	ENSG00000157353	ENST00000288078;ENST00000378912;ENST00000428974	T;T;T	0.33654	1.4;1.4;1.4	5.58	5.58	0.84498	L-fucokinase (1);	0.192959	0.46758	D	0.000269	T	0.57607	0.2065	L	0.60455	1.87	0.39491	D	0.968048	D;D;D	0.71674	0.997;0.998;0.998	D;P;D	0.70487	0.937;0.904;0.969	T	0.51140	-0.8743	10	0.34782	T	0.22	-22.257	19.9641	0.97260	0.0:0.0:1.0:0.0	.	86;135;103	B4DEU5;Q8N0W3-2;Q8N0W3	.;.;FUK_HUMAN	Y	103;135;86	ENSP00000288078:D103Y;ENSP00000368192:D135Y;ENSP00000408007:D86Y	ENSP00000288078:D103Y	D	+	1	0	FUK	69057557	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.925000	0.70062	2.813000	0.96785	0.655000	0.94253	GAC	FUK	-	pfam_Fucokinase	ENSG00000157353		0.617	FUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUK	HGNC	protein_coding	OTTHUMT00000157291.2	-	0.00	98	0	G	NM_145059		70500056	+1	tier1	-	no_errors	ENST00000378912	ensembl	human	known	74_37	missense	28.57	25	10	SNP	1.000	T
GABRA2	2555	genome.wustl.edu	37	4	46334652	46334652	+	Missense_Mutation	SNP	G	G	T	rs76519302		TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr4:46334652G>T	ENST00000510861.1	-	4	408	c.235C>A	c.(235-237)Cct>Act	p.P79T	GABRA2_ENST00000507069.1_Missense_Mutation_p.P79T|GABRA2_ENST00000381620.4_Missense_Mutation_p.P79T|GABRA2_ENST00000514090.1_Missense_Mutation_p.P79T|GABRA2_ENST00000515082.1_Missense_Mutation_p.P79T|GABRA2_ENST00000356504.1_Missense_Mutation_p.P79T|GABRA2_ENST00000540012.1_Intron			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	79					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter levels (GO:0001505)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of synaptic vesicle membrane (GO:0030285)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	TCTGAGACAGGGCCAAAACTG	0.328																																																	0													87.0	91.0	89.0					4																	46334652		2203	4300	6503	SO:0001583	missense	0				CCDS3471.1	4p12	2012-06-22			ENSG00000151834	ENSG00000151834		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4076	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 2"""	137140					Standard	NM_000807		Approved		uc010igc.2	P47869	OTTHUMG00000044266	ENST00000510861.1:c.235C>A	4.37:g.46334652G>T	ENSP00000421828:p.Pro79Thr		A8K0U7|B7Z1H8|Q59G14	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa2_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.P79T	ENST00000510861.1	37	c.235	CCDS3471.1	4	.	.	.	.	.	.	.	.	.	.	G	19.15	3.771543	0.69992	.	.	ENSG00000151834	ENST00000510861;ENST00000514090;ENST00000381620;ENST00000356504;ENST00000507069;ENST00000515082;ENST00000503806;ENST00000506961	T;T;T;T;T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11;-1.11;-1.11;-1.11;-1.11	4.86	4.86	0.63082	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.86777	0.6014	M	0.72353	2.195	0.80722	D	1	B;D	0.76494	0.378;0.999	B;D	0.74023	0.169;0.982	D	0.87853	0.2659	10	0.72032	D	0.01	.	15.8633	0.79043	0.0:0.0:1.0:0.0	.	79;79	G5E9Z6;P47869	.;GBRA2_HUMAN	T	79	ENSP00000421828:P79T;ENSP00000421300:P79T;ENSP00000371033:P79T;ENSP00000348897:P79T;ENSP00000427603:P79T;ENSP00000423840:P79T;ENSP00000424362:P79T;ENSP00000424093:P79T	ENSP00000348897:P79T	P	-	1	0	GABRA2	46029409	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.846000	0.75399	2.678000	0.91216	0.650000	0.86243	CCT	GABRA2	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel	ENSG00000151834		0.328	GABRA2-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	GABRA2	HGNC	protein_coding	OTTHUMT00000360848.2		0.00	18	0	G			46334652	-1			no_errors	ENST00000356504	ensembl	human	known	74_37	missense	5.19	73	4	SNP	1.000	T
GALNT8	26290	genome.wustl.edu	37	12	4830038	4830038	+	Silent	SNP	G	G	A	rs373981442		TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr12:4830038G>A	ENST00000252318.2	+	1	532	c.195G>A	c.(193-195)gtG>gtA	p.V65V	RP11-234B24.6_ENST00000544741.2_Intron|RP11-234B24.2_ENST00000527518.1_lincRNA	NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	polypeptide N-acetylgalactosaminyltransferase 8	65					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						ACTTGGAGGTGGAATTGCAGG	0.463																																					Colon(108;631 1558 7270 20097 39846)												0								G		1,4405	2.1+/-5.4	0,1,2202	66.0	68.0	67.0		195	1.3	0.0	12		67	0,8600		0,0,4300	no	coding-synonymous	GALNT8	NM_017417.1		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		65/638	4830038	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AJ271385	CCDS8533.1	12p13.32	2014-03-13	2014-03-13		ENSG00000130035	ENSG00000130035	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4130	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 8"""	606250	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)"""			10767557	Standard	NM_017417		Approved	GALNAC-T8	uc001qne.1	Q9NY28	OTTHUMG00000166188	ENST00000252318.2:c.195G>A	12.37:g.4830038G>A			B2RU02	Silent	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.V65	ENST00000252318.2	37	c.195	CCDS8533.1	12																																																																																			GALNT8	-	NULL	ENSG00000130035		0.463	GALNT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	GALNT8	HGNC	protein_coding	OTTHUMT00000388277.2	-	0.00	42	0	G	NM_017417		4830038	+1	tier1	-	no_errors	ENST00000252318	ensembl	human	known	74_37	silent	53.33	21	24	SNP	0.001	A
GALNT9	50614	genome.wustl.edu	37	12	132905553	132905553	+	Splice_Site	SNP	G	G	A			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr12:132905553G>A	ENST00000328957.8	-	1	236	c.237C>T	c.(235-237)aaC>aaT	p.N79N	RP13-895J2.7_ENST00000537720.1_RNA	NM_001122636.1	NP_001116108.1	Q9HCQ5	GALT9_HUMAN	polypeptide N-acetylgalactosaminyltransferase 9	79					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(1)|endometrium(1)|large_intestine(2)|lung(5)	9	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05)		CCCGCTCACCGTTGAGCTGGT	0.751																																					Colon(186;2147 2752 13553 41466)												0													9.0	12.0	11.0					12																	132905553		687	1577	2264	SO:0001630	splice_region_variant	0			AB040672	CCDS41866.1	12q24.33	2014-03-13	2014-03-13		ENSG00000182870	ENSG00000182870	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4131	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 9"""	606251	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9)"""			10978536, 12407114	Standard	NM_021808		Approved	GALNAC-T9	uc001ukc.4	Q9HCQ5	OTTHUMG00000168256	ENST00000328957.8:c.238+1C>T	12.37:g.132905553G>A			Q52LR8|Q6NT54|Q8NFR1	Silent	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.N79	ENST00000328957.8	37	c.237		12																																																																																			GALNT9	-	NULL	ENSG00000182870		0.751	GALNT9-009	KNOWN	basic|appris_principal	protein_coding	GALNT9	HGNC	protein_coding	OTTHUMT00000402967.1	-	0.00	71	0	G	NM_001122636	Silent	132905553	-1	tier1	-	no_errors	ENST00000328957	ensembl	human	known	74_37	silent	25.00	21	7	SNP	1.000	A
GALR2	8811	genome.wustl.edu	37	17	74071332	74071332	+	Splice_Site	DEL	G	G	-			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr17:74071332delG	ENST00000329003.3	+	1	458	c.368delG	c.(367-369)agg>ag	p.R123fs	SRP68_ENST00000539137.1_5'Flank|SRP68_ENST00000307877.2_5'Flank|SRP68_ENST00000355113.5_5'Flank	NM_003857.2	NP_003848.1	O43603	GALR2_HUMAN	galanin receptor 2	123					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell surface receptor signaling pathway (GO:0007166)|digestion (GO:0007586)|feeding behavior (GO:0007631)|learning or memory (GO:0007611)|multicellular organismal development (GO:0007275)|muscle contraction (GO:0006936)|negative regulation of adenylate cyclase activity (GO:0007194)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of large conductance calcium-activated potassium channel activity (GO:1902608)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galanin receptor activity (GO:0004966)|peptide hormone binding (GO:0017046)			cervix(1)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						TCCCTGGACAGGTGAGCCAGC	0.677																																																	0													28.0	26.0	26.0					17																	74071332		2203	4300	6503	SO:0001630	splice_region_variant	0			AF040630	CCDS11739.1	17q25.3	2012-08-08			ENSG00000182687	ENSG00000182687		"""GPCR / Class A : Galanin receptors"""	4133	protein-coding gene	gene with protein product		603691				9685625, 9832121	Standard	NM_003857		Approved	GALNR2	uc002jqm.1	O43603	OTTHUMG00000167479	ENST00000329003.3:c.368+1G>-	17.37:g.74071332delG			A5JUU4|Q32MN8	Frame_Shift_Del	DEL	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Galanin_rcpt,prints_GAL2_rcpt	p.R123fs	ENST00000329003.3	37	c.368	CCDS11739.1	17																																																																																			GALR2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000182687		0.677	GALR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALR2	HGNC	protein_coding	OTTHUMT00000394760.1		0.00	30	0	G		Frame_Shift_Del	74071332	+1	tier1		no_errors	ENST00000329003	ensembl	human	known	74_37	frame_shift_del	20.00	8	2	DEL	1.000	-
GDA	9615	genome.wustl.edu	37	9	74865707	74865707	+	3'UTR	SNP	C	C	A	rs62562043		TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr9:74865707C>A	ENST00000358399.3	+	0	3907				GDA_ENST00000238018.4_Missense_Mutation_p.P468Q|GDA_ENST00000376989.3_Missense_Mutation_p.P407Q|GDA_ENST00000376986.1_Missense_Mutation_p.P390Q	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase						guanine catabolic process (GO:0006147)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	guanine deaminase activity (GO:0008892)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		CCCCATCCTCCACCATTTCCT	0.333																																																	0													182.0	175.0	177.0					9																	74865707		876	1991	2867	SO:0001624	3_prime_UTR_variant	0			AF095286	CCDS6641.1, CCDS56576.1, CCDS56577.1	9q21.13	2008-05-14			ENSG00000119125	ENSG00000119125			4212	protein-coding gene	gene with protein product		139260				10075721, 3966794	Standard	NM_001242507		Approved		uc004air.3	Q9Y2T3	OTTHUMG00000020005	ENST00000358399.3:c.*2449C>A	9.37:g.74865707C>A			B4DTY5|Q5SZC7|Q9H335|Q9ULG2	Missense_Mutation	SNP	pfam_Amidohydro_1,tigrfam_Guanine_deaminase	p.P468Q	ENST00000358399.3	37	c.1403	CCDS6641.1	9	.	.	.	.	.	.	.	.	.	.	C	11.24	1.581178	0.28180	.	.	ENSG00000119125	ENST00000238018;ENST00000376989;ENST00000376986;ENST00000436438	.	.	.	4.45	0.285	0.15705	.	0.290260	0.13311	U	0.397493	T	0.17109	0.0411	N	0.08118	0	0.09310	N	1	B;B	0.22683	0.044;0.073	B;B	0.23150	0.02;0.044	T	0.18871	-1.0323	9	0.49607	T	0.09	.	6.3319	0.21274	0.0:0.4507:0.0:0.5493	rs62562043	390;468	Q5SZC6;Q9Y2T3-3	.;.	Q	468;407;390;176	.	ENSP00000238018:P468Q	P	+	2	0	GDA	74055527	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-0.139000	0.10358	0.051000	0.15978	0.655000	0.94253	CCA	GDA	-	NULL	ENSG00000119125		0.333	GDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDA	HGNC	protein_coding	OTTHUMT00000052633.1		0.00	17	0	C			74865707	+1			no_errors	ENST00000238018	ensembl	human	known	74_37	missense	7.14	52	4	SNP	0.000	A
GLB1L3	112937	genome.wustl.edu	37	11	134183872	134183872	+	Silent	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr11:134183872G>T	ENST00000431683.2	+	17	1617	c.1617G>T	c.(1615-1617)ctG>ctT	p.L539L		NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	539					carbohydrate metabolic process (GO:0005975)		beta-galactosidase activity (GO:0004565)			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		ACTCTTCCCTGGAGGGCTTTA	0.493																																																	0													82.0	77.0	79.0					11																	134183872		1894	4123	6017	SO:0001819	synonymous_variant	0				CCDS44780.1	11q25	2008-11-06	2008-01-29		ENSG00000166105	ENSG00000166105			25147	protein-coding gene	gene with protein product						12477932	Standard	NM_001080407		Approved	FLJ90231	uc009zdf.3	Q8NCI6	OTTHUMG00000133524	ENST00000431683.2:c.1617G>T	11.37:g.134183872G>T			A6NEM0|A6NN15|Q6P3S3|Q96FF8	Silent	SNP	pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35	p.L539	ENST00000431683.2	37	c.1617	CCDS44780.1	11																																																																																			GLB1L3	-	superfamily_Galactose-bd-like	ENSG00000166105		0.493	GLB1L3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	GLB1L3	HGNC	protein_coding	OTTHUMT00000393625.1		0.00	22	0	G	NM_138416		134183872	+1			no_errors	ENST00000431683	ensembl	human	known	74_37	silent	6.15	61	4	SNP	0.000	T
GLI3	2737	genome.wustl.edu	37	7	42006106	42006106	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr7:42006106G>T	ENST00000395925.3	-	15	2649	c.2565C>A	c.(2563-2565)agC>agA	p.S855R	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	855					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|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)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GGTAGGCCGAGCTGATGGTGC	0.672									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																																								0													38.0	39.0	38.0					7																	42006106		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	;		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.2565C>A	7.37:g.42006106G>T	ENSP00000379258:p.Ser855Arg		A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S855R	ENST00000395925.3	37	c.2565	CCDS5465.1	7	.	.	.	.	.	.	.	.	.	.	G	12.99	2.104340	0.37145	.	.	ENSG00000106571	ENST00000395925	D	0.91631	-2.88	4.85	3.03	0.35002	.	0.116963	0.85682	D	0.000000	D	0.95421	0.8513	M	0.87180	2.865	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94382	0.7605	10	0.87932	D	0	.	7.0026	0.24817	0.3521:0.0:0.6479:0.0	.	855	P10071	GLI3_HUMAN	R	855	ENSP00000379258:S855R	ENSP00000379258:S855R	S	-	3	2	GLI3	41972631	1.000000	0.71417	0.998000	0.56505	0.197000	0.23852	1.727000	0.38095	1.012000	0.39366	0.462000	0.41574	AGC	GLI3	-	NULL	ENSG00000106571		0.672	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLI3	HGNC	protein_coding	OTTHUMT00000250806.3	-	0.00	64	0	G	NM_000168		42006106	-1	tier1	-	no_errors	ENST00000395925	ensembl	human	known	74_37	missense	23.33	23	7	SNP	1.000	T
GMEB2	26205	genome.wustl.edu	37	20	62221507	62221508	+	Frame_Shift_Ins	INS	-	-	G	rs201863145		TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr20:62221507_62221508insG	ENST00000266068.1	-	9	2005_2006	c.1527_1528insC	c.(1525-1530)cccgggfs	p.G510fs	GMEB2_ENST00000370077.1_Frame_Shift_Ins_p.G510fs|GMEB2_ENST00000370069.1_Frame_Shift_Ins_p.G459fs			Q9UKD1	GMEB2_HUMAN	glucocorticoid modulatory element binding protein 2	510					regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	18	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114)			TCCTCAGGCCCGGGGGCAGCCC	0.698																																																	0																																										SO:0001589	frameshift_variant	0			AF173867	CCDS13528.1	20q13.33	2008-07-02			ENSG00000101216	ENSG00000101216			4371	protein-coding gene	gene with protein product		607451				10523663, 11743720	Standard	NM_012384		Approved	P79PIF, KIAA1269, PIF79	uc002yfq.1	Q9UKD1	OTTHUMG00000032988	ENST00000266068.1:c.1528dupC	20.37:g.62221512_62221512dupG	ENSP00000266068:p.Gly510fs		E1P5J3|Q5TDS0|Q9H431|Q9H4X7|Q9H4X8|Q9UF78|Q9ULF1	Frame_Shift_Ins	INS	pfam_SAND_dom,superfamily_SAND_dom-like,superfamily_Sig_transdc_His_kin_Hpt_dom,smart_SAND_dom,pfscan_SAND_dom	p.G509fs	ENST00000266068.1	37	c.1528_1527	CCDS13528.1	20																																																																																			GMEB2	-	NULL	ENSG00000101216		0.698	GMEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GMEB2	HGNC	protein_coding	OTTHUMT00000080166.1		0.00	40	0	-	NM_012384		62221508	-1	tier1		no_errors	ENST00000266068	ensembl	human	known	74_37	frame_shift_ins	7.41	25	2	INS	0.001:0.000	G
GNB2L1	10399	genome.wustl.edu	37	5	180669293	180669293	+	Missense_Mutation	SNP	A	A	C			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr5:180669293A>C	ENST00000512805.1	-	2	570	c.162T>G	c.(160-162)atT>atG	p.I54M	GNB2L1_ENST00000511566.1_Missense_Mutation_p.I54M|GNB2L1_ENST00000456394.2_Missense_Mutation_p.I54M|GNB2L1_ENST00000505461.1_5'UTR|GNB2L1_ENST00000376817.4_Intron|SNORD95_ENST00000579879.1_RNA|SNORD96A_ENST00000606577.1_RNA|GNB2L1_ENST00000504726.1_Intron|GNB2L1_ENST00000511900.1_Missense_Mutation_p.I54M	NM_006098.4	NP_006089.1	P63244	GBLP_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 2-like 1	54					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)		CACGCTGTGGAATTCCATAGT	0.512																																																	0													98.0	84.0	89.0					5																	180669293		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.162T>G	5.37:g.180669293A>C	ENSP00000426909:p.Ile54Met		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.I54M	ENST00000512805.1	37	c.162	CCDS34324.1	5	.	.	.	.	.	.	.	.	.	.	A	12.85	2.060927	0.36373	.	.	ENSG00000204628	ENST00000511566;ENST00000512805;ENST00000511900;ENST00000512968;ENST00000510199;ENST00000502844;ENST00000507000;ENST00000503081;ENST00000513027;ENST00000456394	T;T;T;T;T;T;T;T;T;T	0.81247	-1.47;-1.47;-1.47;-1.47;-1.47;-1.47;-1.47;-1.47;-1.47;-1.47	5.56	2.71	0.32032	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.254675	0.43260	D	0.000599	T	0.79493	0.4455	N	0.20807	0.61	0.52099	D	0.999943	B;B;B;B	0.30634	0.029;0.202;0.288;0.071	B;P;P;B	0.56865	0.315;0.705;0.808;0.222	T	0.74475	-0.3653	10	0.59425	D	0.04	-11.1018	3.7713	0.08643	0.2755:0.0:0.5473:0.1772	.	54;25;102;54	E9PD14;B4DVD2;D6R9L0;P63244	.;.;.;GBLP_HUMAN	M	54;54;54;54;102;40;13;54;94;54	ENSP00000426101:I54M;ENSP00000426909:I54M;ENSP00000422768:I54M;ENSP00000425008:I54M;ENSP00000423569:I102M;ENSP00000422029:I40M;ENSP00000421416:I13M;ENSP00000424237:I54M;ENSP00000421356:I94M;ENSP00000394470:I54M	ENSP00000394470:I54M	I	-	3	3	GNB2L1	180601899	1.000000	0.71417	0.990000	0.47175	0.181000	0.23173	1.591000	0.36665	0.255000	0.21593	-0.242000	0.12053	ATT	GNB2L1	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000204628		0.512	GNB2L1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	GNB2L1	HGNC	protein_coding	OTTHUMT00000372943.2	-	0.00	13	0	A	NM_006098		180669293	-1	tier1	-	no_errors	ENST00000512805	ensembl	human	known	74_37	missense	57.14	12	16	SNP	1.000	C
GOLGA8M	653720	genome.wustl.edu	37	15	28947154	28947154	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr15:28947154G>T	ENST00000563027.1	-	19	1844	c.1845C>A	c.(1843-1845)agC>agA	p.S615R	AC055876.2_ENST00000459082.1_RNA|RN7SL719P_ENST00000487967.2_RNA					golgin A8 family, member M																		CACAGCAGTTGCTGCCCAAGC	0.527																																																	0																																										SO:0001583	missense	0				CCDS61572.1	15q13.1	2014-03-21			ENSG00000188626	ENSG00000188626			44404	protein-coding gene	gene with protein product							Standard	NM_001282468		Approved			H3BSY2	OTTHUMG00000176338	ENST00000563027.1:c.1845C>A	15.37:g.28947154G>T	ENSP00000456927:p.Ser615Arg			Missense_Mutation	SNP	NULL	p.S615R	ENST00000563027.1	37	c.1845		15																																																																																			GOLGA8M	-	NULL	ENSG00000188626		0.527	GOLGA8M-001	NOVEL	basic|appris_candidate_longest	protein_coding	GOLGA8M	HGNC	protein_coding	OTTHUMT00000431777.1	-	0.00	161	0	G			28947154	-1	tier1	-	no_errors	ENST00000563027	ensembl	human	novel	74_37	missense	22.41	90	26	SNP	0.001	T
GPATCH4	54865	genome.wustl.edu	37	1	156565512	156565512	+	Silent	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr1:156565512G>T	ENST00000438976.2	-	8	651	c.621C>A	c.(619-621)ccC>ccA	p.P207P	GPATCH4_ENST00000497287.1_5'UTR|GPATCH4_ENST00000368232.4_Silent_p.P202P			Q5T3I0	GPTC4_HUMAN	G patch domain containing 4	202							poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(3)|stomach(1)	17	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCTTTTTTTTGGGGGGCTTGC	0.542																																																	0													71.0	73.0	72.0					1																	156565512		2203	4300	6503	SO:0001819	synonymous_variant	0			BC056904	CCDS1146.1, CCDS44245.1	1q22	2013-01-28		2006-12-13	ENSG00000160818	ENSG00000160818		"""G patch domain containing"""	25982	protein-coding gene	gene with protein product				GPATC4		12477932	Standard	NM_015590		Approved	FLJ20249, DKFZP434F1735	uc001fpl.3	Q5T3I0	OTTHUMG00000033203	ENST00000438976.2:c.621C>A	1.37:g.156565512G>T			Q5T3I1|Q6ZUE7|Q8IWG8|Q9NXH4	Silent	SNP	pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom	p.P207	ENST00000438976.2	37	c.621	CCDS44245.1	1																																																																																			GPATCH4	-	NULL	ENSG00000160818		0.542	GPATCH4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPATCH4	HGNC	protein_coding	OTTHUMT00000386947.1		0.00	41	0	G	NM_017725		156565512	-1			no_errors	ENST00000438976	ensembl	human	known	74_37	silent	9.09	30	3	SNP	0.000	T
GRIA4	2893	genome.wustl.edu	37	11	105774677	105774677	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr11:105774677G>T	ENST00000530497.1	+	7	1023	c.1023G>T	c.(1021-1023)caG>caT	p.Q341H	GRIA4_ENST00000428631.2_Missense_Mutation_p.Q341H|GRIA4_ENST00000525187.1_Missense_Mutation_p.Q341H|GRIA4_ENST00000393127.2_Missense_Mutation_p.Q341H|GRIA4_ENST00000393125.2_Missense_Mutation_p.Q341H|GRIA4_ENST00000282499.5_Missense_Mutation_p.Q341H			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	341					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		CATGGGGCCAGGGAATTGACA	0.408																																																	0													92.0	96.0	95.0					11																	105774677		2202	4299	6501	SO:0001583	missense	0			U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4574	protein-coding gene	gene with protein product		138246	"""glutamate receptor, ionotrophic, AMPA 4"""	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.1023G>T	11.37:g.105774677G>T	ENSP00000435775:p.Gln341His		Q86XE8	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.Q341H	ENST00000530497.1	37	c.1023	CCDS8333.1	11	.	.	.	.	.	.	.	.	.	.	G	15.31	2.795047	0.50208	.	.	ENSG00000152578	ENST00000393125;ENST00000282499;ENST00000393127;ENST00000428631;ENST00000530497;ENST00000525187	D;D;D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61;-1.61;-1.61	5.77	1.85	0.25348	Extracellular ligand-binding receptor (1);	0.000000	0.64402	D	0.000001	D	0.82559	0.5063	L	0.39020	1.185	0.58432	D	0.999995	B;D;B	0.76494	0.127;0.999;0.114	B;D;B	0.83275	0.068;0.996;0.256	T	0.76208	-0.3043	10	0.12766	T	0.61	.	8.4573	0.32906	0.4156:0.0:0.5844:0.0	.	341;341;341	P48058;G3V164;Q86XE8	GRIA4_HUMAN;.;.	H	341	ENSP00000376833:Q341H;ENSP00000282499:Q341H;ENSP00000376835:Q341H;ENSP00000415551:Q341H;ENSP00000435775:Q341H;ENSP00000432180:Q341H	ENSP00000282499:Q341H	Q	+	3	2	GRIA4	105279887	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.854000	0.27791	0.465000	0.27167	0.655000	0.94253	CAG	GRIA4	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I	ENSG00000152578		0.408	GRIA4-005	KNOWN	basic|CCDS	protein_coding	GRIA4	HGNC	protein_coding	OTTHUMT00000388593.1		0.00	20	0	G			105774677	+1			no_errors	ENST00000282499	ensembl	human	known	74_37	missense	5.26	36	2	SNP	0.999	T
GRIN2A	2903	genome.wustl.edu	37	16	9858548	9858548	+	Silent	SNP	C	C	A			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr16:9858548C>A	ENST00000396573.2	-	14	3162	c.2853G>T	c.(2851-2853)ggG>ggT	p.G951G	GRIN2A_ENST00000396575.2_Silent_p.G951G|GRIN2A_ENST00000535259.1_Silent_p.G794G|GRIN2A_ENST00000404927.2_Silent_p.G951G|GRIN2A_ENST00000562109.1_Silent_p.G951G|GRIN2A_ENST00000330684.3_Silent_p.G951G	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	951					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TGCTCTCTTTCCCCTGAAAGG	0.443																																																	0													186.0	167.0	173.0					16																	9858548		2197	4300	6497	SO:0001819	synonymous_variant	0				CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.2853G>T	16.37:g.9858548C>A			O00669|Q17RZ6	Silent	SNP	pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.G951	ENST00000396573.2	37	c.2853	CCDS10539.1	16																																																																																			GRIN2A	-	pfam_NMDAR2_C	ENSG00000183454		0.443	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2A	HGNC	protein_coding	OTTHUMT00000251930.3		0.00	30	0	C			9858548	-1			no_errors	ENST00000330684	ensembl	human	known	74_37	silent	6.45	58	4	SNP	0.984	A
GRM8	2918	genome.wustl.edu	37	7	126173069	126173069	+	Silent	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr7:126173069G>T	ENST00000339582.2	-	9	3175	c.2367C>A	c.(2365-2367)acC>acA	p.T789T	GRM8_ENST00000480995.1_5'Flank|GRM8_ENST00000444921.2_Silent_p.T789T|GRM8_ENST00000358373.3_Silent_p.T789T			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	789					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)	p.T789T(3)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				TGATGCAGGTGGTATACATGG	0.408										HNSCC(24;0.065)																																							3	Substitution - coding silent(3)	lung(3)											132.0	116.0	122.0					7																	126173069		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.2367C>A	7.37:g.126173069G>T			A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_8,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4,pfscan_GPCR_3_C	p.T789	ENST00000339582.2	37	c.2367	CCDS5794.1	7																																																																																			GRM8	-	pfam_GPCR_3_C,prints_GPCR_3,pfscan_GPCR_3_C	ENSG00000179603		0.408	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRM8	HGNC	protein_coding	OTTHUMT00000059209.4		0.00	19	0	G			126173069	-1			no_errors	ENST00000339582	ensembl	human	known	74_37	silent	6.52	43	3	SNP	1.000	T
GSG2	83903	genome.wustl.edu	37	17	3629165	3629165	+	Nonsense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr17:3629165G>T	ENST00000325418.4	+	1	1955	c.1936G>T	c.(1936-1938)Gag>Tag	p.E646*	ITGAE_ENST00000571185.1_Intron|ITGAE_ENST00000263087.4_Intron	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN	germ cell associated 2 (haspin)	646	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159, ECO:0000305}.				histone H3-T3 phosphorylation involved in chromosome passenger complex localization to kinetochore (GO:2000751)|intracellular signal transduction (GO:0035556)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|protein localization to chromosome, centromeric region (GO:0071459)|protein phosphorylation (GO:0006468)|regulation of spindle checkpoint (GO:0090231)	centrosome (GO:0005813)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|histone kinase activity (H3-T3 specific) (GO:0072354)|protein kinase activity (GO:0004672)										ACTGCGCTTTGAGCACCGAGA	0.522																																																	0													95.0	83.0	87.0					17																	3629165		2203	4300	6503	SO:0001587	stop_gained	0			AB039834	CCDS11036.1	17p13	2005-01-19			ENSG00000177602	ENSG00000177602			19682	protein-coding gene	gene with protein product		609240					Standard	NM_031965		Approved	haspin	uc002fwp.3	Q8TF76	OTTHUMG00000090703	ENST00000325418.4:c.1936G>T	17.37:g.3629165G>T	ENSP00000325290:p.Glu646*		Q5U5K3|Q96MN1|Q9BXS7	Nonsense_Mutation	SNP	pfam_DUF3635,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	p.E646*	ENST00000325418.4	37	c.1936	CCDS11036.1	17	.	.	.	.	.	.	.	.	.	.	G	37	6.421786	0.97555	.	.	ENSG00000177602	ENST00000325418	.	.	.	4.7	4.7	0.59300	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-23.6675	15.6646	0.77217	0.0:0.0:1.0:0.0	.	.	.	.	X	646	.	ENSP00000325290:E646X	E	+	1	0	GSG2	3575914	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	4.894000	0.63206	2.565000	0.86533	0.655000	0.94253	GAG	GSG2	-	pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	ENSG00000177602		0.522	GSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSG2	HGNC	protein_coding	OTTHUMT00000207391.1	-	0.00	40	0	G	NM_031965		3629165	+1	tier1	-	no_errors	ENST00000325418	ensembl	human	known	74_37	nonsense	14.29	24	4	SNP	1.000	T
GTF2IRD1	9569	genome.wustl.edu	37	7	73933774	73933774	+	Missense_Mutation	SNP	T	T	C			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr7:73933774T>C	ENST00000265755.3	+	6	1034	c.641T>C	c.(640-642)cTg>cCg	p.L214P	GTF2IRD1_ENST00000476977.1_Missense_Mutation_p.L214P|GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.L214P|GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.L246P|GTF2IRD1_ENST00000489094.1_3'UTR	NM_005685.3|NM_016328.2	NP_005676.3|NP_057412.1	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	214					multicellular organismal development (GO:0007275)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transition between slow and fast fiber (GO:0014886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TCGAAGGCCCTGGTGGAGCTG	0.617																																																	0													109.0	114.0	112.0					7																	73933774		2203	4300	6503	SO:0001583	missense	0			AF151354	CCDS5571.1, CCDS47613.1, CCDS56492.1	7q11.23	2008-04-18	2002-01-14		ENSG00000006704	ENSG00000006704			4661	protein-coding gene	gene with protein product	"""binding factor for early enhancer"""	604318	"""GTF2I repeat domain-containing 1"""	WBSCR11		9774679, 10198167	Standard	NM_016328		Approved	MusTRD1, RBAP2, GTF3, WBSCR12, BEN, Cream1	uc010lbq.3	Q9UHL9	OTTHUMG00000023782	ENST00000265755.3:c.641T>C	7.37:g.73933774T>C	ENSP00000265755:p.Leu214Pro		O95444|Q6DSU6|Q75MX7|Q86UM3|Q8WVC4|Q9UHK8|Q9UI91	Missense_Mutation	SNP	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I	p.L214P	ENST00000265755.3	37	c.641	CCDS5571.1	7	.	.	.	.	.	.	.	.	.	.	T	16.35	3.097883	0.56075	.	.	ENSG00000006704	ENST00000265755;ENST00000455841;ENST00000424337;ENST00000476977	T;T;T;T	0.32272	1.46;1.46;1.46;1.46	5.13	3.94	0.45596	.	0.332375	0.28803	N	0.014082	T	0.23649	0.0572	N	0.19112	0.55	0.51482	D	0.999924	D;P;P;P	0.62365	0.991;0.898;0.832;0.797	P;B;B;P	0.52109	0.69;0.352;0.352;0.571	T	0.02037	-1.1225	10	0.24483	T	0.36	-9.1455	5.6003	0.17349	0.144:0.0:0.3042:0.5519	.	246;214;214;214	Q6DSU6;E9PFE2;Q9UHL9;Q9UHL9-2	.;.;GT2D1_HUMAN;.	P	214;246;214;214	ENSP00000265755:L214P;ENSP00000397566:L246P;ENSP00000408477:L214P;ENSP00000418383:L214P	ENSP00000265755:L214P	L	+	2	0	GTF2IRD1	73571710	0.666000	0.27475	0.998000	0.56505	0.962000	0.63368	1.283000	0.33237	2.062000	0.61559	0.459000	0.35465	CTG	GTF2IRD1	-	superfamily_GTF2I,pirsf_TF_II-I	ENSG00000006704		0.617	GTF2IRD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GTF2IRD1	HGNC	protein_coding	OTTHUMT00000252654.2		0.00	107	0	T	NM_016328		73933774	+1			no_errors	ENST00000265755	ensembl	human	known	74_37	missense	8.89	41	4	SNP	0.982	C
HBB	3043	genome.wustl.edu	37	11	5248211	5248211	+	Missense_Mutation	SNP	G	G	A	rs35203747|rs67440443	byFrequency	TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr11:5248211G>A	ENST00000335295.4	-	1	90	c.41C>T	c.(40-42)gCc>gTc	p.A14V	CoTC_ribozyme_ENST00000408104.1_RNA	NM_000518.4	NP_000509.1	P68871	HBB_HUMAN	hemoglobin, beta	14			A -> D (in J-Lens; dbSNP:rs35203747).		bicarbonate transport (GO:0015701)|blood coagulation (GO:0007596)|hydrogen peroxide catabolic process (GO:0042744)|nitric oxide transport (GO:0030185)|oxidation-reduction process (GO:0055114)|oxygen transport (GO:0015671)|platelet aggregation (GO:0070527)|positive regulation of cell death (GO:0010942)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|protein heterooligomerization (GO:0051291)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|renal absorption (GO:0070293)|response to hydrogen peroxide (GO:0042542)|small molecule metabolic process (GO:0044281)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|haptoglobin-hemoglobin complex (GO:0031838)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|hemoglobin binding (GO:0030492)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)	p.A14D(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)	15		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	Iron Dextran(DB00893)	GCCCCACAGGGCAGTAACGGC	0.493									Sickle Cell Trait		OREG0003733	type=REGULATORY REGION|Gene=HBB|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					1	Substitution - Missense(1)	kidney(1)											166.0	131.0	143.0					11																	5248211		2201	4298	6499	SO:0001583	missense	0	Familial Cancer Database		J00173	CCDS7753.1	11p15.5	2014-05-19			ENSG00000244734	ENSG00000244734			4827	protein-coding gene	gene with protein product		141900				2649166	Standard	NM_000518		Approved	CD113t-C, HBD, beta-globin	uc001mae.1	P68871	OTTHUMG00000066678	ENST00000335295.4:c.41C>T	11.37:g.5248211G>A	ENSP00000333994:p.Ala14Val	625	A4GX73|B2ZUE0|P02023|Q13852|Q14481|Q14510|Q45KT0|Q549N7|Q6FI08|Q6R7N2|Q8IZI1|Q9BX96|Q9UCD6|Q9UCP8|Q9UCP9	Missense_Mutation	SNP	pfam_Globin,superfamily_Globin-like,pfscan_Globin,prints_Haemoglobin_b	p.A14V	ENST00000335295.4	37	c.41	CCDS7753.1	11	.	.	.	.	.	.	.	.	.	.	g	11.76	1.734693	0.30774	.	.	ENSG00000244734	ENST00000335295;ENST00000380315	D;D	0.87966	-2.32;-2.32	5.24	-9.27	0.00659	Globin-like (1);Globin, structural domain (1);	.	.	.	.	D	0.85596	0.5733	L	0.52905	1.665	0.09310	N	1	B	0.26845	0.161	B	0.38842	0.283	T	0.75929	-0.3144	9	0.72032	D	0.01	-0.0449	16.8793	0.86059	0.0:0.6716:0.1931:0.1352	.	14	P68871	HBB_HUMAN	V	14	ENSP00000333994:A14V;ENSP00000369671:A14V	ENSP00000333994:A14V	A	-	2	0	HBB	5204787	0.000000	0.05858	0.000000	0.03702	0.109000	0.19521	-2.860000	0.00726	-1.341000	0.02225	0.650000	0.86243	GCC	HBB	-	pfam_Globin,superfamily_Globin-like,pfscan_Globin	ENSG00000244734		0.493	HBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HBB	HGNC	protein_coding	OTTHUMT00000142977.2		0.00	35	0	G	NM_000518		5248211	-1			no_errors	ENST00000335295	ensembl	human	known	74_37	missense	5.13	37	2	SNP	0.000	A
HEATR5A	25938	genome.wustl.edu	37	14	31869659	31869659	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr14:31869659G>T	ENST00000389961.3	-	2	185	c.186C>A	c.(184-186)agC>agA	p.S62R	HEATR5A_ENST00000404677.3_Missense_Mutation_p.S62R|HEATR5A_ENST00000382464.2_Missense_Mutation_p.S62R|HEATR5A_ENST00000439348.1_Missense_Mutation_p.S62R|RP11-176H8.1_ENST00000547378.1_3'UTR|HEATR5A_ENST00000543095.2_Missense_Mutation_p.S62R			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	62										breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		GCCCTGGGGAGCTGTTCAACA	0.398																																																	0																																										SO:0001583	missense	0			AB037737		14q12	2012-04-19	2007-01-02	2007-01-02	ENSG00000129493	ENSG00000129493			20276	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 125"""	C14orf125			Standard	NM_015473		Approved	DKFZP434I1735	uc001wrf.4	Q86XA9	OTTHUMG00000169043	ENST00000389961.3:c.186C>A	14.37:g.31869659G>T	ENSP00000374611:p.Ser62Arg		Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.S62R	ENST00000389961.3	37	c.186		14	.	.	.	.	.	.	.	.	.	.	G	14.20	2.465661	0.43839	.	.	ENSG00000129493	ENST00000389961;ENST00000439348;ENST00000543095;ENST00000404677;ENST00000382464;ENST00000549184	T;T;T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22;-0.22;-0.22	5.91	3.02	0.34903	.	0.232813	0.50627	D	0.000108	T	0.61098	0.2320	M	0.62723	1.935	0.27508	N	0.951785	P	0.50443	0.935	P	0.45856	0.495	T	0.53251	-0.8465	10	0.19590	T	0.45	.	7.5555	0.27822	0.3866:0.0:0.6134:0.0	.	62	B5MC49	.	R	62	ENSP00000374611:S62R;ENSP00000405407:S62R;ENSP00000437968:S62R;ENSP00000384646:S62R;ENSP00000371903:S62R;ENSP00000450262:S62R	ENSP00000371903:S62R	S	-	3	2	HEATR5A	30939410	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	0.786000	0.26844	0.785000	0.33685	0.555000	0.69702	AGC	HEATR5A	-	superfamily_ARM-type_fold	ENSG00000129493		0.398	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	HEATR5A	HGNC	protein_coding			0.00	23	0	G	NM_015473		31869659	-1			no_errors	ENST00000389961	ensembl	human	known	74_37	missense	7.14	39	3	SNP	0.999	T
HIST1H4I	8294	genome.wustl.edu	37	6	27107279	27107279	+	Missense_Mutation	SNP	G	G	T	rs150377743	byFrequency	TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr6:27107279G>T	ENST00000354348.2	+	1	204	c.192G>T	c.(190-192)gaG>gaT	p.E64D	HIST1H2BK_ENST00000396891.4_Intron	NM_003495.2	NP_003486.1	P62805	H4_HUMAN	histone cluster 1, H4i	64			E -> Q (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)	p.E64E(1)		lung(1)	1						TGTTCCTGGAGAACGTGATCC	0.657			T	BCL6	NHL																																			Dom	yes		6	6p21.3	8294	"""histone 1, H4i (H4FM)"""		L	1	Substitution - coding silent(1)	lung(1)											80.0	74.0	76.0					6																	27107279		2203	4300	6503	SO:0001583	missense	0			AB000905	CCDS4620.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198339	ENSG00000276180		"""Histones / Replication-dependent"""	4793	protein-coding gene	gene with protein product		602833	"""H4 histone family, member M"", ""histone 1, H4i"""	H4FM		8988030, 9439656, 12408966	Standard	NM_003495		Approved	H4/m	uc003niy.1	P62805	OTTHUMG00000014471	ENST00000354348.2:c.192G>T	6.37:g.27107279G>T	ENSP00000346316:p.Glu64Asp		A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4	p.E64D	ENST00000354348.2	37	c.192	CCDS4620.1	6	.	.	.	.	.	.	.	.	.	.	.	19.85	3.903830	0.72754	.	.	ENSG00000198339	ENST00000354348	T	0.70986	-0.53	3.8	1.98	0.26296	.	0.000000	0.41294	U	0.000917	T	0.76506	0.3997	M	0.91090	3.175	0.41128	D	0.985867	.	.	.	.	.	.	T	0.77723	-0.2481	8	0.62326	D	0.03	.	8.2253	0.31564	0.2102:0.0:0.7898:0.0	.	.	.	.	D	64	ENSP00000346316:E64D	ENSP00000346316:E64D	E	+	3	2	HIST1H4I	27215258	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	4.112000	0.57845	0.361000	0.24292	0.655000	0.94253	GAG	HIST1H4I	-	pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4	ENSG00000198339		0.657	HIST1H4I-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H4I	HGNC	protein_coding	OTTHUMT00000040139.1		0.00	86	0	G	NM_003495		27107279	+1			no_errors	ENST00000354348	ensembl	human	known	74_37	missense	5.41	35	2	SNP	1.000	T
HLA-DQA2	3118	genome.wustl.edu	37	6	32713674	32713674	+	Silent	SNP	C	C	A	rs34357612	byFrequency	TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr6:32713674C>A	ENST00000374940.3	+	3	540	c.438C>A	c.(436-438)acC>acA	p.T146T		NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ alpha 2	146	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					"""""""Insulin(DB00071)"""	TCAACATCACCTGGCTGAGCA	0.502																																																	0													271.0	240.0	251.0					6																	32713674		1511	2709	4220	SO:0001819	synonymous_variant	0				CCDS4753.1	6p21.3	2013-01-11			ENSG00000237541	ENSG00000237541		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4943	protein-coding gene	gene with protein product		613503		HLA-DXA			Standard	NM_020056		Approved		uc003obx.3	P01906	OTTHUMG00000031108	ENST00000374940.3:c.438C>A	6.37:g.32713674C>A			A2BF37|B0V0E7|O19789|Q5SQ94|Q5SR04	Silent	SNP	pfam_MHC_II_a_N,pfam_Ig_C1-set,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_a_N,smart_Ig_C1-set,pfscan_Ig-like_dom	p.T146	ENST00000374940.3	37	c.438	CCDS4753.1	6																																																																																			HLA-DQA2	-	pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like_dom	ENSG00000237541		0.502	HLA-DQA2-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	HLA-DQA2	HGNC	protein_coding	OTTHUMT00000076179.2	-	0.00	57	0	C	NM_020056		32713674	+1	tier1	rs34357612	no_errors	ENST00000374940	ensembl	human	known	74_37	silent	9.52	95	10	SNP	0.891	A
HLA-DQA2	3118	genome.wustl.edu	37	6	32713693	32713693	+	Missense_Mutation	SNP	T	T	G	rs146057838	byFrequency	TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr6:32713693T>G	ENST00000374940.3	+	3	559	c.457T>G	c.(457-459)Tca>Gca	p.S153A		NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ alpha 2	153	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					"""""""Insulin(DB00071)"""	CAATGGGCACTCAGTCACAGA	0.502																																																	0													277.0	247.0	258.0					6																	32713693		1511	2709	4220	SO:0001583	missense	0				CCDS4753.1	6p21.3	2013-01-11			ENSG00000237541	ENSG00000237541		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4943	protein-coding gene	gene with protein product		613503		HLA-DXA			Standard	NM_020056		Approved		uc003obx.3	P01906	OTTHUMG00000031108	ENST00000374940.3:c.457T>G	6.37:g.32713693T>G	ENSP00000364076:p.Ser153Ala		A2BF37|B0V0E7|O19789|Q5SQ94|Q5SR04	Missense_Mutation	SNP	pfam_MHC_II_a_N,pfam_Ig_C1-set,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_a_N,smart_Ig_C1-set,pfscan_Ig-like_dom	p.S153A	ENST00000374940.3	37	c.457	CCDS4753.1	6	.	.	.	.	.	.	.	.	.	.	.	0.715	-0.785730	0.02907	.	.	ENSG00000237541	ENST00000374940	T	0.02812	4.15	3.06	-6.13	0.02118	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	1.691850	0.03259	N	0.182904	T	0.00724	0.0024	L	0.39633	1.23	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.45644	-0.9247	10	0.44086	T	0.13	.	2.0631	0.03596	0.2583:0.4151:0.1313:0.1954	.	153	P01906	DQA2_HUMAN	A	153	ENSP00000364076:S153A	ENSP00000364076:S153A	S	+	1	0	HLA-DQA2	32821671	0.000000	0.05858	0.000000	0.03702	0.077000	0.17291	-1.495000	0.02294	-1.445000	0.01948	0.147000	0.16070	TCA	HLA-DQA2	-	pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like_dom	ENSG00000237541		0.502	HLA-DQA2-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	HLA-DQA2	HGNC	protein_coding	OTTHUMT00000076179.2	-	0.00	49	0	T	NM_020056		32713693	+1	tier1	rs146057838	no_errors	ENST00000374940	ensembl	human	known	74_37	missense	13.51	95	15	SNP	0.000	G
HPS3	84343	genome.wustl.edu	37	3	148868421	148868421	+	Missense_Mutation	SNP	C	C	T	rs138874465		TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr3:148868421C>T	ENST00000296051.2	+	6	1339	c.1199C>T	c.(1198-1200)gCg>gTg	p.A400V	HPS3_ENST00000460120.1_Missense_Mutation_p.A235V	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	400					organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			CGGTGCAGTGCGGCGGCAGCT	0.532									Hermansky-Pudlak syndrome																																								0								C	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	127.0	112.0	117.0		1199	5.3	0.3	3	dbSNP_134	117	0,8600		0,0,4300	no	missense	HPS3	NM_032383.3	64	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	400/1005	148868421	1,13005	2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	HPS, HPS1-8	AY033141	CCDS3140.1	3q24	2014-06-18			ENSG00000163755	ENSG00000163755			15597	protein-coding gene	gene with protein product		606118				11455388	Standard	NM_032383		Approved	SUTAL	uc003ewu.1	Q969F9	OTTHUMG00000159548	ENST00000296051.2:c.1199C>T	3.37:g.148868421C>T	ENSP00000296051:p.Ala400Val		A8K6G6|Q8WTV6|Q96AP1|Q96MR3|Q9H608	Missense_Mutation	SNP	pirsf_HPS3	p.A400V	ENST00000296051.2	37	c.1199	CCDS3140.1	3	.	.	.	.	.	.	.	.	.	.	C	25.9	4.687050	0.88639	2.27E-4	0.0	ENSG00000163755	ENST00000296051;ENST00000460120	T;T	0.65549	-0.16;-0.16	5.27	5.27	0.74061	.	0.117422	0.56097	D	0.000022	T	0.69178	0.3082	L	0.47016	1.485	0.58432	D	0.99999	D;D	0.71674	0.998;0.978	P;P	0.53450	0.726;0.602	T	0.72663	-0.4225	10	0.87932	D	0	-10.5517	19.2421	0.93888	0.0:1.0:0.0:0.0	.	235;400	G5E9V4;Q969F9	.;HPS3_HUMAN	V	400;235	ENSP00000296051:A400V;ENSP00000418230:A235V	ENSP00000296051:A400V	A	+	2	0	HPS3	150351111	1.000000	0.71417	0.331000	0.25455	0.795000	0.44927	6.504000	0.73704	2.621000	0.88768	0.650000	0.86243	GCG	HPS3	-	pirsf_HPS3	ENSG00000163755		0.532	HPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HPS3	HGNC	protein_coding	OTTHUMT00000356151.1	-	0.00	88	0	C	NM_032383		148868421	+1	tier1	rs138874465	no_errors	ENST00000296051	ensembl	human	known	74_37	missense	9.09	60	6	SNP	0.997	T
HPX	3263	genome.wustl.edu	37	11	6461930	6461930	+	Silent	SNP	G	G	A	rs113295804	byFrequency	TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr11:6461930G>A	ENST00000265983.3	-	2	214	c.114C>T	c.(112-114)ggC>ggT	p.G38G	HPX_ENST00000525057.1_5'UTR	NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN	hemopexin	38	O-glycosylated at one site.				cellular iron ion homeostasis (GO:0006879)|heme metabolic process (GO:0042168)|heme transport (GO:0015886)|hemoglobin metabolic process (GO:0020027)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of immunoglobulin production (GO:0002639)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|viral process (GO:0016032)	blood microparticle (GO:0072562)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme transporter activity (GO:0015232)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		GCTTGGTCTCGCCTTCAGCAA	0.498													G|||	6	0.00119808	0.0008	0.0014	5008	,	,		17324	0.0		0.001	False		,,,				2504	0.0031																0								G		11,4391	17.9+/-39.9	0,11,2190	137.0	133.0	134.0		114	-4.0	0.0	11	dbSNP_132	134	10,8582	7.7+/-29.5	0,10,4286	no	coding-synonymous	HPX	NM_000613.2		0,21,6476	AA,AG,GG		0.1164,0.2499,0.1616		38/463	6461930	21,12973	2201	4296	6497	SO:0001819	synonymous_variant	0			J03048	CCDS7763.1	11p15.5-p15.4	2012-10-02			ENSG00000110169	ENSG00000110169			5171	protein-coding gene	gene with protein product		142290				2989777, 2842511	Standard	NM_000613		Approved		uc001mdg.2	P02790	OTTHUMG00000133399	ENST00000265983.3:c.114C>T	11.37:g.6461930G>A			B2R957	Silent	SNP	pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat,pirsf_Hemopexin_chordata	p.G38	ENST00000265983.3	37	c.114	CCDS7763.1	11																																																																																			HPX	-	pirsf_Hemopexin_chordata	ENSG00000110169		0.498	HPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HPX	HGNC	protein_coding	OTTHUMT00000257256.1	-	0.00	61	0	G	NM_000613		6461930	-1	tier1	rs113295804	no_errors	ENST00000265983	ensembl	human	known	74_37	silent	64.77	30	57	SNP	0.004	A
HSF5	124535	genome.wustl.edu	37	17	56536211	56536211	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr17:56536211G>T	ENST00000323777.3	-	5	1747	c.1638C>A	c.(1636-1638)agC>agA	p.S546R	AC023992.1_ENST00000581197.1_RNA	NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	546					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CACTAGGCTTGCTAGCAGGCC	0.473																																																	0													201.0	169.0	180.0					17																	56536211		2203	4300	6503	SO:0001583	missense	0			BC033020	CCDS32690.1	17q23.2	2006-04-25				ENSG00000176160			26862	protein-coding gene	gene with protein product							Standard	NM_001080439		Approved	FLJ40311	uc002iwi.1	Q4G112		ENST00000323777.3:c.1638C>A	17.37:g.56536211G>T	ENSP00000313243:p.Ser546Arg		Q08EH7|Q8N7V2	Missense_Mutation	SNP	pfam_HSF_DNA-bd,smart_HSF_DNA-bd	p.S546R	ENST00000323777.3	37	c.1638	CCDS32690.1	17	.	.	.	.	.	.	.	.	.	.	G	14.63	2.592298	0.46214	.	.	ENSG00000176160	ENST00000412540;ENST00000323777	T	0.74315	-0.83	5.77	4.8	0.61643	.	0.440276	0.25683	N	0.028988	T	0.61515	0.2353	N	0.19112	0.55	0.23577	N	0.997373	B	0.06786	0.001	B	0.04013	0.001	T	0.58142	-0.7688	10	0.72032	D	0.01	.	13.5684	0.61832	0.0:0.2966:0.7034:0.0	.	546	Q4G112	HSF5_HUMAN	R	446;546	ENSP00000313243:S546R	ENSP00000313243:S546R	S	-	3	2	HSF5	53891210	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.127000	0.50484	1.567000	0.49668	0.655000	0.94253	AGC	HSF5	-	NULL	ENSG00000176160		0.473	HSF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSF5	HGNC	protein_coding	OTTHUMT00000444719.1	-	0.00	32	0	G	XM_064190		56536211	-1	tier1	-	no_errors	ENST00000323777	ensembl	human	known	74_37	missense	5.26	72	4	SNP	1.000	T
HTT	3064	genome.wustl.edu	37	4	3156053	3156054	+	Frame_Shift_Ins	INS	-	-	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr4:3156053_3156054insT	ENST00000355072.5	+	27	3677_3678	c.3532_3533insT	c.(3532-3534)ctafs	p.L1178fs		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	1178					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CCCCCCTTCTCTAAGTCCCATC	0.426																																																	0																																										SO:0001589	frameshift_variant	0			L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.3533dupT	4.37:g.3156054_3156054dupT	ENSP00000347184:p.Leu1178fs		Q9UQB7	Frame_Shift_Ins	INS	pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin	p.S1179fs	ENST00000355072.5	37	c.3532_3533	CCDS43206.1	4																																																																																			HTT	-	NULL	ENSG00000197386		0.426	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTT	HGNC	protein_coding	OTTHUMT00000358234.2		0.00	39	0	-	NM_002111		3156054	+1	tier1		no_errors	ENST00000355072	ensembl	human	known	74_37	frame_shift_ins	10.58	93	11	INS	0.996:0.997	T
HUNK	30811	genome.wustl.edu	37	21	33340678	33340678	+	Frame_Shift_Del	DEL	A	A	-			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr21:33340678delA	ENST00000270112.2	+	6	1351	c.991delA	c.(991-993)aatfs	p.N331fs		NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	331					multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						AGTGCCCTGTAATGTCACCTA	0.547																																																	0													95.0	89.0	91.0					21																	33340678		2203	4300	6503	SO:0001589	frameshift_variant	0			AJ271722	CCDS13610.1	21q22.1	2008-06-05	2008-06-05		ENSG00000142149	ENSG00000142149			13326	protein-coding gene	gene with protein product		606532	"""hormonally upregulated Neu-associated kinase"""			10662544, 10830953	Standard	NM_014586		Approved		uc002yph.3	P57058	OTTHUMG00000085019	ENST00000270112.2:c.991delA	21.37:g.33340678delA	ENSP00000270112:p.Asn331fs			Frame_Shift_Del	DEL	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.N331fs	ENST00000270112.2	37	c.991	CCDS13610.1	21																																																																																			HUNK	-	superfamily_Kinase-like_dom	ENSG00000142149		0.547	HUNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUNK	HGNC	protein_coding	OTTHUMT00000192782.1		0.00	76	0	A	NM_014586		33340678	+1	tier1		no_errors	ENST00000270112	ensembl	human	known	74_37	frame_shift_del	9.09	20	2	DEL	0.551	-
HYOU1	10525	genome.wustl.edu	37	11	118919484	118919484	+	Missense_Mutation	SNP	G	G	T	rs200858668		TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr11:118919484G>T	ENST00000404233.3	-	18	2231	c.2107C>A	c.(2107-2109)Ctg>Atg	p.L703M	HYOU1_ENST00000529972.1_Missense_Mutation_p.L641M|HYOU1_ENST00000525859.1_Missense_Mutation_p.L641M|HYOU1_ENST00000543287.1_3'UTR	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	703					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|response to ischemia (GO:0002931)|response to stress (GO:0006950)	endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		AGAACAACCAGCTCCACCCCG	0.602																																																	0													117.0	102.0	107.0					11																	118919484		2200	4295	6495	SO:0001583	missense	0			U65785	CCDS8408.1	11q23.1-q23.3	2011-09-02			ENSG00000149428	ENSG00000149428		"""Heat shock proteins / HSP70"""	16931	protein-coding gene	gene with protein product	"""glucose-regulated protein 170"""	601746				9020069, 10037731	Standard	XM_005271390		Approved	ORP150, HSP12A, Grp170	uc001pux.3	Q9Y4L1	OTTHUMG00000166354	ENST00000404233.3:c.2107C>A	11.37:g.118919484G>T	ENSP00000384144:p.Leu703Met		A8C1Z0|B7Z909|Q2I204|Q53H25	Missense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.L703M	ENST00000404233.3	37	c.2107	CCDS8408.1	11	.	.	.	.	.	.	.	.	.	.	G	17.86	3.492111	0.64074	.	.	ENSG00000149428	ENST00000404233;ENST00000353883;ENST00000529972;ENST00000535579;ENST00000525859;ENST00000544701	T;T;T	0.01629	4.75;4.72;4.72	5.37	3.46	0.39613	.	0.074928	0.56097	N	0.000033	T	0.08179	0.0204	M	0.77486	2.375	0.80722	D	1	D;B;D;D	0.76494	0.999;0.156;0.999;0.999	D;B;D;D	0.73708	0.965;0.109;0.981;0.981	T	0.13845	-1.0494	10	0.32370	T	0.25	-11.9305	10.0933	0.42460	0.0707:0.0:0.7917:0.1376	.	694;685;703;703	B3KXH0;B7Z2N4;Q9Y4L1;A8C1Z0	.;.;HYOU1_HUMAN;.	M	703;694;641;552;641;684	ENSP00000384144:L703M;ENSP00000437313:L641M;ENSP00000433397:L641M	ENSP00000278752:L694M	L	-	1	2	HYOU1	118424694	1.000000	0.71417	0.972000	0.41901	0.603000	0.37013	2.665000	0.46791	0.798000	0.33994	0.655000	0.94253	CTG	HYOU1	-	pfam_Hsp_70_fam	ENSG00000149428		0.602	HYOU1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	HYOU1	HGNC	protein_coding	OTTHUMT00000389353.1	-	0.00	52	0	G	NM_006389		118919484	-1	tier1	-	no_errors	ENST00000404233	ensembl	human	known	74_37	missense	10.26	35	4	SNP	0.996	T
HYOU1	10525	genome.wustl.edu	37	11	118919813	118919813	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr11:118919813G>T	ENST00000404233.3	-	17	2033	c.1909C>A	c.(1909-1911)Cca>Aca	p.P637T	HYOU1_ENST00000529972.1_Intron|HYOU1_ENST00000525859.1_Intron|HYOU1_ENST00000543287.1_3'UTR	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	637	Poly-Pro.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|response to ischemia (GO:0002931)|response to stress (GO:0006950)	endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		TCAGGGGGTGGGGGCTGAGAG	0.612																																																	0													75.0	72.0	73.0					11																	118919813		2200	4295	6495	SO:0001583	missense	0			U65785	CCDS8408.1	11q23.1-q23.3	2011-09-02			ENSG00000149428	ENSG00000149428		"""Heat shock proteins / HSP70"""	16931	protein-coding gene	gene with protein product	"""glucose-regulated protein 170"""	601746				9020069, 10037731	Standard	XM_005271390		Approved	ORP150, HSP12A, Grp170	uc001pux.3	Q9Y4L1	OTTHUMG00000166354	ENST00000404233.3:c.1909C>A	11.37:g.118919813G>T	ENSP00000384144:p.Pro637Thr		A8C1Z0|B7Z909|Q2I204|Q53H25	Missense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.P637T	ENST00000404233.3	37	c.1909	CCDS8408.1	11	.	.	.	.	.	.	.	.	.	.	G	10.92	1.487088	0.26686	.	.	ENSG00000149428	ENST00000404233;ENST00000353883;ENST00000536103;ENST00000535579;ENST00000530473	T;T	0.01584	4.94;4.75	5.23	4.32	0.51571	.	0.391287	0.25771	N	0.028418	T	0.01905	0.0060	N	0.16602	0.42	0.80722	D	1	B;P;P	0.40794	0.134;0.729;0.729	B;B;B	0.43623	0.133;0.425;0.425	T	0.72877	-0.4159	10	0.20046	T	0.44	-1.9631	13.5306	0.61619	0.0754:0.0:0.9246:0.0	.	628;637;637	B3KXH0;Q9Y4L1;A8C1Z0	.;HYOU1_HUMAN;.	T	637;628;637;486;637	ENSP00000384144:P637T;ENSP00000431874:P637T	ENSP00000278752:P628T	P	-	1	0	HYOU1	118425023	0.977000	0.34250	0.832000	0.32986	0.019000	0.09904	1.667000	0.37471	1.432000	0.47375	0.655000	0.94253	CCA	HYOU1	-	pfam_Hsp_70_fam	ENSG00000149428		0.612	HYOU1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	HYOU1	HGNC	protein_coding	OTTHUMT00000389353.1	-	0.00	123	0	G	NM_006389		118919813	-1	tier1	-	no_errors	ENST00000404233	ensembl	human	known	74_37	missense	5.94	95	6	SNP	0.978	T
IAH1	285148	genome.wustl.edu	37	2	9628289	9628289	+	Missense_Mutation	SNP	A	A	G	rs370353854		TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr2:9628289A>G	ENST00000497473.1	+	6	615	c.578A>G	c.(577-579)tAt>tGt	p.Y193C	IAH1_ENST00000489468.1_3'UTR|IAH1_ENST00000482918.1_Missense_Mutation_p.Y80C|IAH1_ENST00000470914.1_Missense_Mutation_p.Y80C|IAH1_ENST00000545602.1_Missense_Mutation_p.Y80C	NM_001039613.1	NP_001034702.1	Q2TAA2	IAH1_HUMAN	isoamyl acetate-hydrolyzing esterase 1 homolog (S. cerevisiae)	193					lipid catabolic process (GO:0016042)	extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on ester bonds (GO:0016788)			breast(1)|large_intestine(2)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TTCTCATCTTATTTATCAGAT	0.458																																																	0													109.0	101.0	103.0					2																	9628289		1856	4099	5955	SO:0001583	missense	0			BC111025	CCDS42651.1	2p25.1	2010-08-05			ENSG00000134330	ENSG00000134330			27696	protein-coding gene	gene with protein product						12477932	Standard	XR_426950		Approved		uc002qzr.3	Q2TAA2	OTTHUMG00000159076	ENST00000497473.1:c.578A>G	2.37:g.9628289A>G	ENSP00000417580:p.Tyr193Cys		B4DMV3	Missense_Mutation	SNP	pfam_Lipase_GDSL	p.Y193C	ENST00000497473.1	37	c.578	CCDS42651.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.34|13.34	2.207836|2.207836	0.39003|0.39003	.|.	.|.	ENSG00000134330|ENSG00000134330	ENST00000481367|ENST00000482918;ENST00000497473;ENST00000470914;ENST00000545602	.|T;T;T;T	.|0.14266	.|2.52;2.52;2.52;2.52	6.17|6.17	0.858|0.858	0.19030|0.19030	.|Esterase, SGNH hydrolase-type (1);Esterase, SGNH hydrolase-type, subgroup (1);Lipase, GDSL (1);	.|0.059063	.|0.64402	.|D	.|0.000001	T|T	0.20740|0.20740	0.0499|0.0499	L|L	0.48218|0.48218	1.51|1.51	0.48762|0.48762	D|D	0.999707|0.999707	.|D	.|0.76494	.|0.999	.|D	.|0.68192	.|0.956	T|T	0.05194|0.05194	-1.0900|-1.0900	5|10	.|0.39692	.|T	.|0.17	-13.8012|-13.8012	3.7594|3.7594	0.08598|0.08598	0.5984:0.1168:0.0613:0.2235|0.5984:0.1168:0.0613:0.2235	.|.	.|193	.|Q2TAA2	.|IAH1_HUMAN	V|C	173|80;193;80;80	.|ENSP00000419110:Y80C;ENSP00000417580:Y193C;ENSP00000419224:Y80C;ENSP00000438534:Y80C	.|ENSP00000419224:Y80C	I|Y	+|+	1|2	0|0	IAH1|IAH1	9545740|9545740	0.999000|0.999000	0.42202|0.42202	0.022000|0.022000	0.16811|0.16811	0.219000|0.219000	0.24729|0.24729	4.236000|4.236000	0.58675|0.58675	-0.073000|-0.073000	0.12842|0.12842	0.533000|0.533000	0.62120|0.62120	ATT|TAT	IAH1	-	pfam_Lipase_GDSL	ENSG00000134330		0.458	IAH1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	IAH1	HGNC	protein_coding	OTTHUMT00000353192.1	-	0.00	35	0	A	NM_001039613		9628289	+1	tier1	-	no_errors	ENST00000497473	ensembl	human	known	74_37	missense	16.92	54	11	SNP	0.650	G
IDH2	3418	genome.wustl.edu	37	15	90634813	90634813	+	Missense_Mutation	SNP	C	C	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr15:90634813C>T	ENST00000330062.3	-	2	292	c.179G>A	c.(178-180)cGt>cAt	p.R60H	IDH2_ENST00000540499.2_Missense_Mutation_p.R8H|IDH2_ENST00000559482.1_Missense_Mutation_p.R60H|IDH2_ENST00000539790.1_Intron	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	60					2-oxoglutarate metabolic process (GO:0006103)|carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)			biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			CCAGATAATACGGGTCATCTC	0.572			M		GBM																																			Dom	yes		15	15q26.1	3418	"""socitrate dehydrogenase 2 (NADP+), mitochondrial """		M	0													217.0	176.0	190.0					15																	90634813		2200	4298	6498	SO:0001583	missense	0				CCDS10359.1	15q26.1	2014-09-17			ENSG00000182054	ENSG00000182054	1.1.1.42		5383	protein-coding gene	gene with protein product		147650					Standard	NM_001289910		Approved		uc002box.3	P48735	OTTHUMG00000149815	ENST00000330062.3:c.179G>A	15.37:g.90634813C>T	ENSP00000331897:p.Arg60His		B2R6L6|B4DFL2|Q96GT3	Missense_Mutation	SNP	pfam_IsoPropMal-DH-like_dom,pirsf_Isocitrate_DH_NADP,tigrfam_Isocitrate_DH_NADP	p.R60H	ENST00000330062.3	37	c.179	CCDS10359.1	15	.	.	.	.	.	.	.	.	.	.	C	25.1	4.600054	0.87055	.	.	ENSG00000182054	ENST00000330062;ENST00000540499	T;T	0.78924	-1.22;-1.22	5.4	4.48	0.54585	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.84938	0.5583	M	0.91510	3.215	0.80722	D	1	D;P	0.57571	0.98;0.952	P;B	0.49502	0.613;0.315	D	0.87612	0.2504	10	0.72032	D	0.01	.	11.9221	0.52797	0.0:0.9156:0.0:0.0844	.	60;60	Q53GL5;P48735	.;IDHP_HUMAN	H	60;8	ENSP00000331897:R60H;ENSP00000446147:R8H	ENSP00000331897:R60H	R	-	2	0	IDH2	88435817	1.000000	0.71417	0.831000	0.32960	0.791000	0.44710	6.057000	0.71119	1.283000	0.44513	0.561000	0.74099	CGT	IDH2	-	pfam_IsoPropMal-DH-like_dom,pirsf_Isocitrate_DH_NADP,tigrfam_Isocitrate_DH_NADP	ENSG00000182054		0.572	IDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IDH2	HGNC	protein_coding	OTTHUMT00000313426.1	-	0.00	88	0	C			90634813	-1	tier1	-	no_errors	ENST00000330062	ensembl	human	known	74_37	missense	7.55	49	4	SNP	0.994	T
IKBKAP	8518	genome.wustl.edu	37	9	111640376	111640376	+	Nonsense_Mutation	SNP	C	C	A			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr9:111640376C>A	ENST00000374647.5	-	35	4061	c.3754G>T	c.(3754-3756)Gga>Tga	p.G1252*	IKBKAP_ENST00000467959.1_5'Flank|IKBKAP_ENST00000537196.1_Nonsense_Mutation_p.G903*	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	1252					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)	p.G1252*(1)|p.G1252R(1)		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						AATTCCCTTCCTTGTTCATCA	0.393																																																	2	Substitution - Nonsense(1)|Substitution - Missense(1)	lung(1)|kidney(1)											94.0	92.0	92.0					9																	111640376		2203	4300	6503	SO:0001587	stop_gained	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.3754G>T	9.37:g.111640376C>A	ENSP00000363779:p.Gly1252*		Q5JSV2|Q9H327|Q9UG87	Nonsense_Mutation	SNP	pfam_IKI3,superfamily_ARM-type_fold,superfamily_UBA-like,pirsf_IKI3	p.G1252*	ENST00000374647.5	37	c.3754	CCDS6773.1	9	.	.	.	.	.	.	.	.	.	.	C	36	5.636758	0.96693	.	.	ENSG00000070061	ENST00000374647;ENST00000537196	.	.	.	5.53	5.53	0.82687	.	0.292734	0.33382	N	0.004966	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-10.5692	17.0018	0.86383	0.0:1.0:0.0:0.0	.	.	.	.	X	1252;903	.	ENSP00000363779:G1252X	G	-	1	0	IKBKAP	110680197	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.669000	0.68081	2.876000	0.98609	0.643000	0.83706	GGA	IKBKAP	-	pirsf_IKI3	ENSG00000070061		0.393	IKBKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IKBKAP	HGNC	protein_coding	OTTHUMT00000053574.1		0.00	15	0	C			111640376	-1			no_errors	ENST00000374647	ensembl	human	known	74_37	nonsense	6.38	44	3	SNP	1.000	A
IMPAD1	54928	genome.wustl.edu	37	8	57905881	57905881	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr8:57905881G>T	ENST00000262644.4	-	1	522	c.264C>A	c.(262-264)aaC>aaA	p.N88K		NM_017813.4	NP_060283.3	Q9NX62	IMPA3_HUMAN	inositol monophosphatase domain containing 1	88					chondrocyte development (GO:0002063)|chondroitin sulfate metabolic process (GO:0030204)|embryonic digit morphogenesis (GO:0042733)|endochondral ossification (GO:0001958)|inositol biosynthetic process (GO:0006021)|phosphatidylinositol phosphorylation (GO:0046854)|post-embryonic development (GO:0009791)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'(2'),5'-bisphosphate nucleotidase activity (GO:0008441)|3'-nucleotidase activity (GO:0008254)|inositol monophosphate 1-phosphatase activity (GO:0008934)|inositol monophosphate 3-phosphatase activity (GO:0052832)|inositol monophosphate 4-phosphatase activity (GO:0052833)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448)				CGTGGAGGACGTTGCTCTCGC	0.667																																																	0													62.0	53.0	56.0					8																	57905881		2203	4300	6503	SO:0001583	missense	0				CCDS6169.1	8q12.1	2013-05-16			ENSG00000104331	ENSG00000104331			26019	protein-coding gene	gene with protein product		614010				21549340	Standard	NM_017813		Approved	FLJ20421, IMPA3, gPAPP	uc003xte.4	Q9NX62	OTTHUMG00000164415	ENST00000262644.4:c.264C>A	8.37:g.57905881G>T	ENSP00000262644:p.Asn88Lys		Q6NVY7	Missense_Mutation	SNP	pfam_Inositol_monophosphatase	p.N88K	ENST00000262644.4	37	c.264	CCDS6169.1	8	.	.	.	.	.	.	.	.	.	.	G	7.936	0.741707	0.15642	.	.	ENSG00000104331	ENST00000262644;ENST00000517461	T;T	0.51325	0.71;1.0	4.95	-2.07	0.07276	.	0.154140	0.56097	D	0.000031	T	0.43743	0.1261	L	0.39085	1.19	0.35517	D	0.801134	D	0.58620	0.983	P	0.57911	0.829	T	0.49661	-0.8916	10	0.22109	T	0.4	-7.051	8.3828	0.32481	0.3367:0.0:0.5573:0.106	.	88	Q9NX62	IMPA3_HUMAN	K	88;13	ENSP00000262644:N88K;ENSP00000430185:N13K	ENSP00000262644:N88K	N	-	3	2	IMPAD1	58068435	0.974000	0.33945	0.467000	0.27180	0.000000	0.00434	0.545000	0.23268	-0.639000	0.05502	-2.628000	0.00155	AAC	IMPAD1	-	pfam_Inositol_monophosphatase	ENSG00000104331		0.667	IMPAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IMPAD1	HGNC	protein_coding	OTTHUMT00000378665.1		0.00	74	0	G	NM_017813		57905881	-1			no_errors	ENST00000262644	ensembl	human	known	74_37	missense	5.00	57	3	SNP	0.063	T
INPP1	3628	genome.wustl.edu	37	2	191224816	191224816	+	5'UTR	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr2:191224816G>T	ENST00000322522.4	+	0	444				INPP1_ENST00000417336.1_3'UTR|INPP1_ENST00000392329.2_5'UTR|INPP1_ENST00000541441.1_5'UTR	NM_002194.3	NP_002185.1	P49441	INPP_HUMAN	inositol polyphosphate-1-phosphatase						dephosphorylation (GO:0016311)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol phosphorylation (GO:0046854)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	inositol-1,3,4-trisphosphate 1-phosphatase activity (GO:0052829)|inositol-1,4-bisphosphate 1-phosphatase activity (GO:0004441)|metal ion binding (GO:0046872)			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.000286)|Epithelial(96;0.0186)|all cancers(119;0.057)			CAACTGAAAAGCAAGGTTCAG	0.522																																					Melanoma(130;184 1743 2185 19805 38428)												0													42.0	46.0	45.0					2																	191224816		2203	4300	6503	SO:0001623	5_prime_UTR_variant	0				CCDS2305.1	2q32	2008-02-07			ENSG00000151689	ENSG00000151689	3.1.3.57		6071	protein-coding gene	gene with protein product		147263				8390685	Standard	NM_002194		Approved		uc010fsb.3	P49441	OTTHUMG00000132672	ENST00000322522.4:c.-13G>T	2.37:g.191224816G>T				RNA	SNP	-	NULL	ENST00000322522.4	37	NULL	CCDS2305.1	2																																																																																			INPP1	-	-	ENSG00000151689		0.522	INPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INPP1	HGNC	protein_coding	OTTHUMT00000255932.2	-	0.00	33	0	G			191224816	+1	tier1	-	no_errors	ENST00000417336	ensembl	human	known	74_37	rna	10.00	36	4	SNP	0.004	T
INTS8	55656	genome.wustl.edu	37	8	95888448	95888448	+	Splice_Site	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr8:95888448G>T	ENST00000523731.1	+	25	2895		c.e25-1		INTS8_ENST00000447247.1_Splice_Site	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8						snRNA processing (GO:0016180)	integrator complex (GO:0032039)				breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					CTGTCTTTCAGTCATGATGCT	0.333																																																	0													186.0	170.0	175.0					8																	95888448		2203	4299	6502	SO:0001630	splice_region_variant	0			AK091278	CCDS34925.1	8q22.1	2007-05-03	2006-03-15	2006-03-15	ENSG00000164941	ENSG00000164941			26048	protein-coding gene	gene with protein product		611351	"""chromosome 8 open reading frame 52"""	C8orf52		16239144	Standard	NM_017864		Approved	FLJ20530, INT8, MGC131633	uc003yhb.4	Q75QN2	OTTHUMG00000164695	ENST00000523731.1:c.2763-1G>T	8.37:g.95888448G>T			B2RN92|Q5RKZ3|Q6P1R5|Q7Z314|Q9NVS6|Q9NWY7	Splice_Site	SNP	-	e25-1	ENST00000523731.1	37	c.2763-1	CCDS34925.1	8	.	.	.	.	.	.	.	.	.	.	G	20.5	4.003507	0.74932	.	.	ENSG00000164941	ENST00000523731;ENST00000447247;ENST00000520526	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8326	0.96642	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	INTS8	95957624	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	9.328000	0.96403	2.686000	0.91538	0.591000	0.81541	.	INTS8	-	-	ENSG00000164941		0.333	INTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS8	HGNC	protein_coding	OTTHUMT00000379794.1		0.00	26	0	G	NM_017864	Intron	95888448	+1			no_errors	ENST00000523731	ensembl	human	known	74_37	splice_site	5.33	71	4	SNP	1.000	T
INVS	27130	genome.wustl.edu	37	9	103035177	103035177	+	Nonsense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr9:103035177G>T	ENST00000262457.2	+	12	1788	c.1603G>T	c.(1603-1605)Gag>Tag	p.E535*	INVS_ENST00000541287.1_Nonsense_Mutation_p.E439*|INVS_ENST00000262456.2_Nonsense_Mutation_p.E535*	NM_014425.3	NP_055240.2	Q9Y283	INVS_HUMAN	inversin	535					embryonic heart tube left/right pattern formation (GO:0060971)|kidney development (GO:0001822)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|pancreas development (GO:0031016)|post-embryonic development (GO:0009791)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				TTTGCTTGGTGAGCGCCATGA	0.428																																																	0													192.0	183.0	186.0					9																	103035177		2203	4300	6503	SO:0001587	stop_gained	0			AF039217	CCDS6746.1, CCDS6747.1	9q31	2013-01-10	2003-08-11		ENSG00000119509	ENSG00000119509		"""Ankyrin repeat domain containing"""	17870	protein-coding gene	gene with protein product	"""nephrocystin 2"""	243305	"""nephronophthisis 2 (infantile)"""	NPHP2		12872123	Standard	NM_014425		Approved		uc004bap.2	Q9Y283	OTTHUMG00000020364	ENST00000262457.2:c.1603G>T	9.37:g.103035177G>T	ENSP00000262457:p.Glu535*		A2A2Y2|Q2NKL0|Q5W0T6|Q8IVX8|Q9BRB9|Q9Y488|Q9Y498	Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_IQ_motif_EF-hand-BS,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Ankyrin_rpt	p.E535*	ENST00000262457.2	37	c.1603	CCDS6746.1	9	.	.	.	.	.	.	.	.	.	.	G	40	8.306421	0.98752	.	.	ENSG00000119509	ENST00000262457;ENST00000541287;ENST00000262456	.	.	.	5.67	5.67	0.87782	.	0.093351	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	19.7704	0.96361	0.0:0.0:1.0:0.0	.	.	.	.	X	535;439;535	.	ENSP00000262456:E535X	E	+	1	0	INVS	102074998	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.676000	0.91093	0.561000	0.74099	GAG	INVS	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000119509		0.428	INVS-005	KNOWN	basic|appris_principal|CCDS	protein_coding	INVS	HGNC	protein_coding	OTTHUMT00000053407.1	-	0.00	71	0	G	NM_014425		103035177	+1	tier1	-	no_errors	ENST00000262457	ensembl	human	known	74_37	nonsense	6.35	59	4	SNP	1.000	T
JAK3	3718	genome.wustl.edu	37	19	17937660	17937660	+	Missense_Mutation	SNP	G	G	T	rs138593705	byFrequency	TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr19:17937660G>T	ENST00000527670.1	-	23	3296	c.3267C>A	c.(3265-3267)agC>agA	p.S1089R	JAK3_ENST00000458235.1_Missense_Mutation_p.S1089R			P52333	JAK3_HUMAN	Janus kinase 3	1089	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)	p.S1089S(2)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147					Tofacitinib(DB08895)	GGCCCAGGGCGCTGAATGATG	0.642		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""																																			Dom	yes		19	19p13.1	3718	Janus kinase 3		L	2	Substitution - coding silent(2)	endometrium(2)											74.0	71.0	72.0					19																	17937660		2203	4300	6503	SO:0001583	missense	0			U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	2.7.10.1		6193	protein-coding gene	gene with protein product	"""tyrosine-protein kinase JAK3"", ""leukocyte Janus kinase"""	600173				8921370, 9226382	Standard	NM_000215		Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.3267C>A	19.37:g.17937660G>T	ENSP00000432511:p.Ser1089Arg		Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_Prot_kinase_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak3,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S1089R	ENST00000527670.1	37	c.3267	CCDS12366.1	19	.	.	.	.	.	.	.	.	.	.	g	0.011	-1.702505	0.00719	.	.	ENSG00000105639	ENST00000458235;ENST00000527670	D;D	0.82984	-1.67;-1.67	3.61	-6.07	0.02158	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.73536	0.3599	N	0.21282	0.65	0.09310	N	0.999998	D	0.56968	0.978	P	0.53266	0.722	T	0.63972	-0.6516	9	0.07644	T	0.81	0.1145	11.3371	0.49511	0.7785:0.0:0.2215:0.0	.	1089	P52333	JAK3_HUMAN	R	1089	ENSP00000391676:S1089R;ENSP00000432511:S1089R	ENSP00000391676:S1089R	S	-	3	2	JAK3	17798660	0.000000	0.05858	0.008000	0.14137	0.176000	0.22953	-1.577000	0.02127	-1.143000	0.02866	-0.674000	0.03794	AGC	JAK3	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_Prot_kinase_dom	ENSG00000105639		0.642	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	JAK3	HGNC	protein_coding	OTTHUMT00000385549.1		0.00	88	0	G	NM_000215		17937660	-1			no_errors	ENST00000458235	ensembl	human	known	74_37	missense	6.25	30	2	SNP	0.000	T
JMJD1C	221037	genome.wustl.edu	37	10	64973574	64973574	+	Missense_Mutation	SNP	C	C	A			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr10:64973574C>A	ENST00000399262.2	-	8	2571	c.2353G>T	c.(2353-2355)Ggt>Tgt	p.G785C	JMJD1C_ENST00000402544.1_Missense_Mutation_p.G566C|JMJD1C_ENST00000542921.1_Missense_Mutation_p.G603C|JMJD1C_ENST00000489372.2_5'Flank|JMJD1C_ENST00000399251.1_Missense_Mutation_p.G566C	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	785					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TGGTGTGGACCACTAGTCAGA	0.502																																																	0													88.0	82.0	84.0					10																	64973574		2137	4246	6383	SO:0001583	missense	0			L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.2353G>T	10.37:g.64973574C>A	ENSP00000382204:p.Gly785Cys		A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.G785C	ENST00000399262.2	37	c.2353	CCDS41532.1	10	.	.	.	.	.	.	.	.	.	.	C	13.87	2.365948	0.41902	.	.	ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000399251;ENST00000542921	T;T;T;T	0.52057	0.68;0.68;0.68;0.68	5.54	3.67	0.42095	.	0.274210	0.32987	N	0.005401	T	0.45915	0.1366	N	0.22421	0.69	0.29869	N	0.827014	D;D	0.59357	0.985;0.98	P;P	0.55161	0.77;0.62	T	0.45977	-0.9224	10	0.45353	T	0.12	-11.2029	12.867	0.57946	0.0:0.8659:0.0:0.134	.	785;603	Q15652;A0T124	JHD2C_HUMAN;.	C	785;566;566;603	ENSP00000382204:G785C;ENSP00000384990:G566C;ENSP00000382195:G566C;ENSP00000444682:G603C	ENSP00000382195:G566C	G	-	1	0	JMJD1C	64643580	0.998000	0.40836	1.000000	0.80357	0.972000	0.66771	0.623000	0.24447	1.593000	0.50029	-0.123000	0.14984	GGT	JMJD1C	-	NULL	ENSG00000171988		0.502	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	JMJD1C	HGNC	protein_coding	OTTHUMT00000048249.2		0.00	16	0	C	NM_004241		64973574	-1			no_errors	ENST00000399262	ensembl	human	known	74_37	missense	8.33	43	4	SNP	1.000	A
JMJD6	23210	genome.wustl.edu	37	17	74718004	74718004	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr17:74718004G>T	ENST00000397625.4	-	4	931	c.817C>A	c.(817-819)Cat>Aat	p.H273N	JMJD6_ENST00000445478.2_Missense_Mutation_p.H273N|JMJD6_ENST00000585429.1_Missense_Mutation_p.H273N	NM_015167.2	NP_055982.2	Q6NYC1	JMJD6_HUMAN	jumonji domain containing 6	273	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				cell surface receptor signaling pathway (GO:0007166)|erythrocyte development (GO:0048821)|heart development (GO:0007507)|histone H3-R2 demethylation (GO:0070078)|histone H4-R3 demethylation (GO:0070079)|kidney development (GO:0001822)|lung development (GO:0030324)|macrophage activation (GO:0042116)|mRNA processing (GO:0006397)|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine (GO:0018395)|recognition of apoptotic cell (GO:0043654)|regulation of mRNA splicing, via spliceosome (GO:0048024)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|RNA splicing (GO:0008380)|sprouting angiogenesis (GO:0002040)|T cell differentiation in thymus (GO:0033077)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone demethylase activity (H3-R2 specific) (GO:0033746)|histone demethylase activity (H4-R3 specific) (GO:0033749)|identical protein binding (GO:0042802)|iron ion binding (GO:0005506)|peptidyl-lysine 5-dioxygenase activity (GO:0070815)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			endometrium(2)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|skin(2)	16						AGGACAACATGCCACCAGCCT	0.448																																																	0													117.0	108.0	111.0					17																	74718004		2004	4172	6176	SO:0001583	missense	0			AB011157	CCDS42383.1, CCDS42384.1	17q25	2007-11-20	2007-02-16	2007-02-16	ENSG00000070495	ENSG00000070495			19355	protein-coding gene	gene with protein product		604914	"""phosphatidylserine receptor"""	PTDSR		11877474	Standard	NM_015167		Approved	PTDSR1, KIAA0585	uc002jsn.1	Q6NYC1	OTTHUMG00000169267	ENST00000397625.4:c.817C>A	17.37:g.74718004G>T	ENSP00000380750:p.His273Asn		B3KMN8|B4DGX1|Q86VY0|Q8IUM5|Q9Y4E2	Missense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.H273N	ENST00000397625.4	37	c.817	CCDS42384.1	17	.	.	.	.	.	.	.	.	.	.	G	24.1	4.498469	0.85069	.	.	ENSG00000070495	ENST00000445478;ENST00000344991;ENST00000397625	D;D	0.97870	-4.58;-4.58	5.49	5.49	0.81192	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	0.000000	0.85682	D	0.000000	D	0.99381	0.9782	H	0.98849	4.35	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	0.98310	1.0523	10	0.87932	D	0	0.4342	19.4304	0.94762	0.0:0.0:1.0:0.0	.	273;273;273	B2WTI3;Q6NYC1;Q6NYC1-3	.;JMJD6_HUMAN;.	N	273	ENSP00000394085:H273N;ENSP00000380750:H273N	ENSP00000302916:H273N	H	-	1	0	JMJD6	72229599	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	9.859000	0.99545	2.575000	0.86900	0.555000	0.69702	CAT	JMJD6	-	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	ENSG00000070495		0.448	JMJD6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	JMJD6	HGNC	protein_coding	OTTHUMT00000403211.1		0.00	35	0	G	NM_015167		74718004	-1			no_errors	ENST00000445478	ensembl	human	known	74_37	missense	5.19	73	4	SNP	1.000	T
JPH4	84502	genome.wustl.edu	37	14	24040365	24040365	+	Silent	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr14:24040365G>T	ENST00000397118.3	-	6	2477	c.1575C>A	c.(1573-1575)ccC>ccA	p.P525P	JPH4_ENST00000356300.4_Silent_p.P525P|JPH4_ENST00000544177.1_Silent_p.P190P	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	525					calcium ion transport into cytosol (GO:0060402)|learning (GO:0007612)|neuromuscular process controlling balance (GO:0050885)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of synaptic plasticity (GO:0048167)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		AACCGTCTCTGGGCCCTGGCC	0.662																																																	0													148.0	154.0	152.0					14																	24040365		2203	4299	6502	SO:0001819	synonymous_variant	0			AB058734	CCDS9603.1	14q11	2004-05-28	2004-05-28	2004-05-28	ENSG00000092051	ENSG00000092051			20156	protein-coding gene	gene with protein product			"""junctophilin like 1"""	JPHL1		11347906	Standard	NM_032452		Approved	KIAA1831	uc001wkr.2	Q96JJ6	OTTHUMG00000028769	ENST00000397118.3:c.1575C>A	14.37:g.24040365G>T			D3DS53|Q8ND44|Q96DQ0	Silent	SNP	pfam_MORN,smart_MORN,pirsf_Junctophilin	p.P525	ENST00000397118.3	37	c.1575	CCDS9603.1	14																																																																																			JPH4	-	pirsf_Junctophilin	ENSG00000092051		0.662	JPH4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	JPH4	HGNC	protein_coding	OTTHUMT00000413853.1	-	0.00	172	0	G	NM_032452		24040365	-1	tier1	-	no_errors	ENST00000356300	ensembl	human	known	74_37	silent	26.53	36	13	SNP	0.981	T
KCNH8	131096	genome.wustl.edu	37	3	19322812	19322812	+	Missense_Mutation	SNP	A	A	G			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr3:19322812A>G	ENST00000328405.2	+	3	699	c.433A>G	c.(433-435)Aaa>Gaa	p.K145E		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	145	PAC. {ECO:0000255|PROSITE- ProRule:PRU00141}.				potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						TCCAGAAGATAAAAAAGAAGG	0.308																																					NSCLC(124;1625 1765 8018 24930 42026)												0													69.0	76.0	73.0					3																	19322812		2203	4298	6501	SO:0001583	missense	0			AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.433A>G	3.37:g.19322812A>G	ENSP00000328813:p.Lys145Glu		B7Z2I7|Q59GQ6	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,pfam_PAS_4,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,superfamily_tRNA-bd_arm,smart_PAC,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_EAG,tigrfam_PAS	p.K145E	ENST00000328405.2	37	c.433	CCDS2632.1	3	.	.	.	.	.	.	.	.	.	.	A	6.966	0.548125	0.13312	.	.	ENSG00000183960	ENST00000328405	D	0.98567	-5.0	6.17	6.17	0.99709	PAS-associated, C-terminal (1);	0.000000	0.33346	U	0.005002	D	0.95996	0.8696	L	0.44542	1.39	0.80722	D	1	B;B	0.28998	0.004;0.23	B;B	0.20955	0.002;0.032	D	0.94778	0.7951	9	.	.	.	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	145;145	B7Z398;Q96L42	.;KCNH8_HUMAN	E	145	ENSP00000328813:K145E	.	K	+	1	0	KCNH8	19297816	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.045000	0.76585	2.371000	0.80710	0.533000	0.62120	AAA	KCNH8	-	pfscan_PAS-assoc_C	ENSG00000183960		0.308	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH8	HGNC	protein_coding	OTTHUMT00000252139.2	-	0.00	15	0	A	NM_144633		19322812	+1	tier1	-	no_errors	ENST00000328405	ensembl	human	known	74_37	missense	47.69	33	31	SNP	1.000	G
KCNJ16	3773	genome.wustl.edu	37	17	68129146	68129146	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr17:68129146G>T	ENST00000589377.1	+	2	1081	c.918G>T	c.(916-918)tgG>tgT	p.W306C	KCNJ16_ENST00000585558.1_Missense_Mutation_p.W341C|KCNJ16_ENST00000586462.1_Missense_Mutation_p.W345C|KCNJ16_ENST00000392671.1_Missense_Mutation_p.W306C|KCNJ16_ENST00000392670.1_Missense_Mutation_p.W306C|KCNJ16_ENST00000283936.1_Missense_Mutation_p.W306C	NM_001270422.1	NP_001257351.1	Q9NPI9	KCJ16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	306					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)	p.W306*(1)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					AAATTCTCTGGGGCCATAGGT	0.398																																																	1	Substitution - Nonsense(1)	large_intestine(1)											72.0	77.0	75.0					17																	68129146		2203	4300	6503	SO:0001583	missense	0			AF153815	CCDS11687.1, CCDS74141.1	17q24.3	2011-07-05				ENSG00000153822		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6262	protein-coding gene	gene with protein product		605722				11240146, 16382105	Standard	NM_018658		Approved	Kir5.1, BIR9	uc002jio.4	Q9NPI9		ENST00000589377.1:c.918G>T	17.37:g.68129146G>T	ENSP00000465967:p.Trp306Cys			Missense_Mutation	SNP	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir5,prints_K_chnl_inward-rec_Kir	p.W306C	ENST00000589377.1	37	c.918	CCDS11687.1	17	.	.	.	.	.	.	.	.	.	.	G	16.06	3.016723	0.54468	.	.	ENSG00000153822	ENST00000283936;ENST00000392671;ENST00000392670	D;D;D	0.97620	-4.46;-4.46;-4.46	5.78	5.78	0.91487	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.98890	0.9624	M	0.92077	3.27	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99334	1.0910	9	.	.	.	.	19.5977	0.95547	0.0:0.0:1.0:0.0	.	306;306	A8K434;Q9NPI9	.;IRK16_HUMAN	C	306	ENSP00000283936:W306C;ENSP00000376439:W306C;ENSP00000376438:W306C	.	W	+	3	0	KCNJ16	65640741	1.000000	0.71417	1.000000	0.80357	0.268000	0.26511	9.771000	0.98977	2.722000	0.93159	0.650000	0.86243	TGG	KCNJ16	-	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir	ENSG00000153822		0.398	KCNJ16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ16	HGNC	protein_coding	OTTHUMT00000450880.1		0.00	32	0	G	NM_018658		68129146	+1			no_errors	ENST00000283936	ensembl	human	known	74_37	missense	5.00	38	2	SNP	0.993	T
KCNQ3	3786	genome.wustl.edu	37	8	133492434	133492434	+	Missense_Mutation	SNP	C	C	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr8:133492434C>T	ENST00000388996.4	-	1	766	c.346G>A	c.(346-348)Gag>Aag	p.E116K	KCNQ3_ENST00000519445.1_Missense_Mutation_p.E116K	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	116					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	CGCGGTCTCTCCAGGGCGTCG	0.687																																																	0													43.0	51.0	48.0					8																	133492434		2203	4300	6503	SO:0001583	missense	0			AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.346G>A	8.37:g.133492434C>T	ENSP00000373648:p.Glu116Lys		A2VCT8|B4DJY4|E7EQ89	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ3,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.E116K	ENST00000388996.4	37	c.346	CCDS34943.1	8	.	.	.	.	.	.	.	.	.	.	C	21.1	4.092173	0.76756	.	.	ENSG00000184156	ENST00000388996;ENST00000519445;ENST00000542679	D;D	0.99287	-5.67;-5.69	4.98	4.98	0.66077	.	0.074671	0.52532	D	0.000078	D	0.99023	0.9666	L	0.43598	1.365	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.75020	0.985;0.985	D	0.99880	1.1111	10	0.87932	D	0	-12.2134	17.4063	0.87474	0.0:1.0:0.0:0.0	.	116;116	E7ET42;O43525	.;KCNQ3_HUMAN	K	116;116;105	ENSP00000373648:E116K;ENSP00000428790:E116K	ENSP00000373648:E116K	E	-	1	0	KCNQ3	133561616	1.000000	0.71417	0.997000	0.53966	0.027000	0.11550	7.408000	0.80041	2.589000	0.87451	0.557000	0.71058	GAG	KCNQ3	-	NULL	ENSG00000184156		0.687	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNQ3	HGNC	protein_coding	OTTHUMT00000268621.2	-	0.00	83	0	C	NM_004519		133492434	-1	tier1	-	no_errors	ENST00000388996	ensembl	human	known	74_37	missense	11.20	99	14	SNP	1.000	T
KCNQ3	3786	genome.wustl.edu	37	8	133492450	133492450	+	Silent	SNP	C	C	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr8:133492450C>T	ENST00000388996.4	-	1	750	c.330G>A	c.(328-330)ttG>ttA	p.L110L	KCNQ3_ENST00000519445.1_Silent_p.L110L	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	110					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	CGTCGTAGATCAAAGTTTGGA	0.692																																																	0													48.0	56.0	53.0					8																	133492450		2203	4300	6503	SO:0001819	synonymous_variant	0			AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.330G>A	8.37:g.133492450C>T			A2VCT8|B4DJY4|E7EQ89	Silent	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ3,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.L110	ENST00000388996.4	37	c.330	CCDS34943.1	8																																																																																			KCNQ3	-	NULL	ENSG00000184156		0.692	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNQ3	HGNC	protein_coding	OTTHUMT00000268621.2	-	0.00	97	0	C	NM_004519		133492450	-1	tier1	-	no_errors	ENST00000388996	ensembl	human	known	74_37	silent	9.66	131	14	SNP	1.000	T
KCNQ3	3786	genome.wustl.edu	37	8	133492484	133492484	+	Missense_Mutation	SNP	C	C	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr8:133492484C>T	ENST00000388996.4	-	1	716	c.296G>A	c.(295-297)aGa>aAa	p.R99K	KCNQ3_ENST00000519445.1_Missense_Mutation_p.R99K	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	99					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	GGCGTTGTTTCTCTTGACTGG	0.677																																																	0													47.0	54.0	51.0					8																	133492484		2203	4300	6503	SO:0001583	missense	0			AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.296G>A	8.37:g.133492484C>T	ENSP00000373648:p.Arg99Lys		A2VCT8|B4DJY4|E7EQ89	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ3,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.R99K	ENST00000388996.4	37	c.296	CCDS34943.1	8	.	.	.	.	.	.	.	.	.	.	C	10.70	1.423591	0.25639	.	.	ENSG00000184156	ENST00000388996;ENST00000519445;ENST00000542679	D;D	0.99042	-5.32;-5.36	4.43	3.56	0.40772	.	0.124862	0.41097	D	0.000941	D	0.96787	0.8951	L	0.41492	1.28	0.42849	D	0.994074	B;B	0.14012	0.009;0.009	B;B	0.15052	0.012;0.012	D	0.95009	0.8150	10	0.35671	T	0.21	-10.6301	11.5044	0.50456	0.0:0.913:0.0:0.087	.	99;99	E7ET42;O43525	.;KCNQ3_HUMAN	K	99;99;88	ENSP00000373648:R99K;ENSP00000428790:R99K	ENSP00000373648:R99K	R	-	2	0	KCNQ3	133561666	1.000000	0.71417	1.000000	0.80357	0.006000	0.05464	4.603000	0.61105	1.092000	0.41356	-0.259000	0.10710	AGA	KCNQ3	-	NULL	ENSG00000184156		0.677	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNQ3	HGNC	protein_coding	OTTHUMT00000268621.2	-	0.00	94	0	C	NM_004519		133492484	-1	tier1	-	no_errors	ENST00000388996	ensembl	human	known	74_37	missense	8.72	157	15	SNP	1.000	T
KCNQ3	3786	genome.wustl.edu	37	8	133492510	133492510	+	Missense_Mutation	SNP	C	C	G			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr8:133492510C>G	ENST00000388996.4	-	1	690	c.270G>C	c.(268-270)aaG>aaC	p.K90N	KCNQ3_ENST00000519445.1_Missense_Mutation_p.K90N	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	90					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	TCAGCGGGGTCTTGGCCAGGA	0.701																																																	0													36.0	41.0	39.0					8																	133492510		2203	4298	6501	SO:0001583	missense	0			AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.270G>C	8.37:g.133492510C>G	ENSP00000373648:p.Lys90Asn		A2VCT8|B4DJY4|E7EQ89	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ3,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.K90N	ENST00000388996.4	37	c.270	CCDS34943.1	8	.	.	.	.	.	.	.	.	.	.	C	13.51	2.257741	0.39896	.	.	ENSG00000184156	ENST00000388996;ENST00000519445;ENST00000542679	D;D	0.99080	-5.39;-5.4	4.43	4.43	0.53597	.	0.204155	0.32430	N	0.006116	D	0.98463	0.9488	L	0.46819	1.47	0.58432	D	0.999999	D;D	0.64830	0.994;0.994	P;P	0.56960	0.81;0.81	D	0.98389	1.0562	10	0.39692	T	0.17	-9.2255	16.2364	0.82377	0.0:1.0:0.0:0.0	.	90;90	E7ET42;O43525	.;KCNQ3_HUMAN	N	90;90;79	ENSP00000373648:K90N;ENSP00000428790:K90N	ENSP00000373648:K90N	K	-	3	2	KCNQ3	133561692	1.000000	0.71417	1.000000	0.80357	0.104000	0.19210	1.858000	0.39408	2.297000	0.77311	0.557000	0.71058	AAG	KCNQ3	-	prints_K_chnl_volt-dep_KCNQ3	ENSG00000184156		0.701	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNQ3	HGNC	protein_coding	OTTHUMT00000268621.2	-	0.00	86	0	C	NM_004519		133492510	-1	tier1	-	no_errors	ENST00000388996	ensembl	human	known	74_37	missense	10.83	140	17	SNP	1.000	G
KCNQ3	3786	genome.wustl.edu	37	8	133492540	133492540	+	Silent	SNP	C	C	T	rs587781012		TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr8:133492540C>T	ENST00000388996.4	-	1	660	c.240G>A	c.(238-240)agG>agA	p.R80R	KCNQ3_ENST00000519445.1_Silent_p.R80R	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	80					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	CCTGCGGGGTCCTCCGCTGCC	0.687																																																	0													23.0	27.0	26.0					8																	133492540		2201	4298	6499	SO:0001819	synonymous_variant	0			AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.240G>A	8.37:g.133492540C>T			A2VCT8|B4DJY4|E7EQ89	Silent	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ3,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.R80	ENST00000388996.4	37	c.240	CCDS34943.1	8																																																																																			KCNQ3	-	NULL	ENSG00000184156		0.687	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNQ3	HGNC	protein_coding	OTTHUMT00000268621.2	-	0.00	65	0	C	NM_004519		133492540	-1	tier1	-	no_errors	ENST00000388996	ensembl	human	known	74_37	silent	10.40	112	13	SNP	1.000	T
KCTD12	115207	genome.wustl.edu	37	13	77460104	77460104	+	Silent	SNP	G	G	T	rs201685006	byFrequency	TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr13:77460104G>T	ENST00000377474.2	-	1	421	c.180C>A	c.(178-180)ctC>ctA	p.L60L	AC000403.1_ENST00000579275.1_RNA|KCTD12_ENST00000317765.2_Silent_p.L60L	NM_138444.3	NP_612453.1	Q96CX2	KCD12_HUMAN	potassium channel tetramerization domain containing 12	60					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4		Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.0499)		ACATGCGCCAGAGCAGCGAGT	0.677																																																	0													16.0	14.0	14.0					13																	77460104		2173	4254	6427	SO:0001819	synonymous_variant	0			AF359381	CCDS9455.1	13q21	2013-06-20	2013-06-20	2003-11-26	ENSG00000178695	ENSG00000178695			14678	protein-coding gene	gene with protein product	"""predominantly fetal expressed T1 domain"""	610521	"""chromosome 13 open reading frame 2"", ""potassium channel tetramerisation domain containing 12"""	C13orf2		15357420	Standard	NM_138444		Approved	KIAA1778, PFET1	uc010aeu.1	Q96CX2	OTTHUMG00000017096	ENST00000377474.2:c.180C>A	13.37:g.77460104G>T				Silent	SNP	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	p.L60	ENST00000377474.2	37	c.180	CCDS9455.1	13																																																																																			KCTD12	-	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	ENSG00000178695		0.677	KCTD12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCTD12	HGNC	protein_coding	OTTHUMT00000045309.2	-	0.00	16	0	G	NM_138444		77460104	-1	tier1	-	no_errors	ENST00000317765	ensembl	human	known	74_37	silent	22.22	14	4	SNP	1.000	T
KHDRBS2	202559	genome.wustl.edu	37	6	62604710	62604710	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr6:62604710G>T	ENST00000281156.4	-	6	918	c.640C>A	c.(640-642)Cca>Aca	p.P214T		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	214	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) binding (GO:0008143)|poly(U) RNA binding (GO:0008266)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		CCAGGTGGTGGGGGAGGAGGA	0.552																																																	0													33.0	36.0	35.0					6																	62604710		2203	4300	6503	SO:0001583	missense	0			BC034043	CCDS4963.1	6q11.1	2013-09-20			ENSG00000112232	ENSG00000112232			18114	protein-coding gene	gene with protein product	"""Sam68-like mammalian protein 1"""	610487					Standard	NM_152688		Approved	SLM1, SLM-1, MGC26664	uc003peg.2	Q5VWX1	OTTHUMG00000014936	ENST00000281156.4:c.640C>A	6.37:g.62604710G>T	ENSP00000281156:p.Pro214Thr		A8K7M8|Q8N4I4|Q8TCZ4	Missense_Mutation	SNP	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	p.P214T	ENST00000281156.4	37	c.640	CCDS4963.1	6	.	.	.	.	.	.	.	.	.	.	G	6.929	0.541052	0.13250	.	.	ENSG00000112232	ENST00000281156;ENST00000539571	T	0.45668	0.89	4.99	3.2	0.36748	.	0.356029	0.30043	N	0.010554	T	0.09555	0.0235	N	0.22421	0.69	0.23879	N	0.99658	B	0.31026	0.304	B	0.21151	0.033	T	0.11817	-1.0572	10	0.35671	T	0.21	-2.7479	7.1757	0.25742	0.1486:0.1414:0.71:0.0	.	214	Q5VWX1	KHDR2_HUMAN	T	214	ENSP00000281156:P214T	ENSP00000281156:P214T	P	-	1	0	KHDRBS2	62662669	1.000000	0.71417	0.987000	0.45799	0.998000	0.95712	4.903000	0.63272	0.791000	0.33826	0.655000	0.94253	CCA	KHDRBS2	-	NULL	ENSG00000112232		0.552	KHDRBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KHDRBS2	HGNC	protein_coding	OTTHUMT00000041066.2	-	0.00	68	0	G	NM_152688		62604710	-1	tier1	-	no_errors	ENST00000281156	ensembl	human	known	74_37	missense	9.43	48	5	SNP	0.908	T
KIAA0513	9764	genome.wustl.edu	37	16	85111135	85111135	+	Missense_Mutation	SNP	G	G	A			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr16:85111135G>A	ENST00000566428.1	+	6	1310	c.679G>A	c.(679-681)Gcc>Acc	p.A227T	KIAA0513_ENST00000538274.1_Missense_Mutation_p.A227T|KIAA0513_ENST00000567328.1_Missense_Mutation_p.A227T|KIAA0513_ENST00000258180.3_Missense_Mutation_p.A227T			O60268	K0513_HUMAN	KIAA0513	227						cytoplasm (GO:0005737)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.234)		GAAGGACATCGCCGAGCGGCT	0.637																																																	0													36.0	43.0	41.0					16																	85111135		2198	4300	6498	SO:0001583	missense	0			AB011085	CCDS32499.1, CCDS67091.1, CCDS73919.1	16q24.1	2012-11-29			ENSG00000135709	ENSG00000135709			29058	protein-coding gene	gene with protein product		611675				9628581	Standard	XM_005256265		Approved		uc002fiu.3	O60268	OTTHUMG00000176597	ENST00000566428.1:c.679G>A	16.37:g.85111135G>A	ENSP00000457408:p.Ala227Thr		B4DSS5|D3DUM2|Q8N6G0	Missense_Mutation	SNP	pfam_SBF2	p.A227T	ENST00000566428.1	37	c.679	CCDS32499.1	16	.	.	.	.	.	.	.	.	.	.	G	26.4	4.736948	0.89482	.	.	ENSG00000135709	ENST00000538274;ENST00000258180	T;T	0.36157	1.27;1.27	5.4	5.4	0.78164	.	0.051644	0.85682	D	0.000000	T	0.43433	0.1247	L	0.34521	1.04	0.54753	D	0.999986	D;D	0.65815	0.995;0.991	P;P	0.53954	0.738;0.551	T	0.31696	-0.9934	10	0.54805	T	0.06	-8.6431	17.7598	0.88461	0.0:0.0:1.0:0.0	.	227;227	B4DSS5;O60268	.;K0513_HUMAN	T	227	ENSP00000446439:A227T;ENSP00000258180:A227T	ENSP00000258180:A227T	A	+	1	0	KIAA0513	83668636	1.000000	0.71417	0.994000	0.49952	0.957000	0.61999	8.991000	0.93514	2.526000	0.85167	0.561000	0.74099	GCC	KIAA0513	-	NULL	ENSG00000135709		0.637	KIAA0513-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0513	HGNC	protein_coding	OTTHUMT00000432736.1	-	0.00	230	0	G	NM_014732		85111135	+1	tier1	-	no_errors	ENST00000258180	ensembl	human	known	74_37	missense	30.00	77	33	SNP	0.998	A
KIF1B	23095	genome.wustl.edu	37	1	10364187	10364187	+	Intron	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr1:10364187G>T	ENST00000377086.1	+	22	2317				KIF1B_ENST00000377083.1_Nonsense_Mutation_p.E982*|KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377081.1_Intron|RN7SL731P_ENST00000584329.1_RNA|KIF1B_ENST00000377093.4_Nonsense_Mutation_p.E982*			O60333	KIF1B_HUMAN	kinesin family member 1B						anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-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;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		CATCATAACAGAAGATGAGGT	0.448																																																	0													89.0	94.0	92.0					1																	10364187		2203	4300	6503	SO:0001627	intron_variant	0			AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.2115+6883G>T	1.37:g.10364187G>T			A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Nonsense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_FHA_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E982*	ENST00000377086.1	37	c.2944		1	.	.	.	.	.	.	.	.	.	.	G	39	7.812117	0.98504	.	.	ENSG00000054523	ENST00000377093;ENST00000377083	.	.	.	5.48	5.48	0.80851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.3713	0.94488	0.0:0.0:1.0:0.0	.	.	.	.	X	982	.	ENSP00000366287:E982X	E	+	1	0	KIF1B	10286774	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.395000	0.97266	2.575000	0.86900	0.655000	0.94253	GAA	KIF1B	-	NULL	ENSG00000054523		0.448	KIF1B-001	NOVEL	basic	protein_coding	KIF1B	HGNC	protein_coding	OTTHUMT00000005102.1	-	0.00	36	0	G			10364187	+1	tier1	-	no_errors	ENST00000377083	ensembl	human	known	74_37	nonsense	8.89	41	4	SNP	1.000	T
KIF26B	55083	genome.wustl.edu	37	1	245849384	245849384	+	Silent	SNP	C	C	T	rs369332807		TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr1:245849384C>T	ENST00000407071.2	+	12	3539	c.3099C>T	c.(3097-3099)agC>agT	p.S1033S	KIF26B_ENST00000366518.4_Silent_p.S652S	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1033					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			GCCAGCACAGCGCCTCCCCAC	0.716																																																	0								C		0,4180		0,0,2090	8.0	12.0	11.0		3099	-6.0	0.0	1		11	2,8374		0,2,4186	no	coding-synonymous	KIF26B	NM_018012.3		0,2,6276	TT,TC,CC		0.0239,0.0,0.0159		1033/2109	245849384	2,12554	2090	4188	6278	SO:0001819	synonymous_variant	0			AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.3099C>T	1.37:g.245849384C>T			Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Silent	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.S1033	ENST00000407071.2	37	c.3099	CCDS44342.1	1																																																																																			KIF26B	-	NULL	ENSG00000162849		0.716	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF26B	HGNC	protein_coding	OTTHUMT00000381037.1	-	0.00	52	0	C	XM_371354		245849384	+1	tier1	-	no_errors	ENST00000407071	ensembl	human	known	74_37	silent	75.00	3	9	SNP	0.000	T
KRT23	25984	genome.wustl.edu	37	17	39092550	39092550	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr17:39092550G>T	ENST00000209718.3	-	2	730	c.306C>A	c.(304-306)agC>agA	p.S102R	KRT23_ENST00000582283.1_5'Flank|AC004231.2_ENST00000418393.1_RNA|KRT23_ENST00000436344.3_Intron	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN	keratin 23 (histone deacetylase inducible)	102	Coil 1A.|Rod.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				TCAGGATGCGGCTTTCCAGCT	0.542																																																	0													94.0	96.0	95.0					17																	39092550		2203	4300	6503	SO:0001583	missense	0			AF102848	CCDS11380.1, CCDS62182.1	17q21.2	2013-01-16			ENSG00000108244	ENSG00000108244		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6438	protein-coding gene	gene with protein product		606194				11135429, 16831889	Standard	NM_015515		Approved	K23, DKFZP434G032, HAIK1, CK23, MGC26158	uc002hvm.1	Q9C075	OTTHUMG00000133376	ENST00000209718.3:c.306C>A	17.37:g.39092550G>T	ENSP00000209718:p.Ser102Arg		A8K084|B7Z7J2|I3L3Q6|Q9NUR6	Missense_Mutation	SNP	pfam_IF,prints_Keratin_I	p.S102R	ENST00000209718.3	37	c.306	CCDS11380.1	17	.	.	.	.	.	.	.	.	.	.	G	11.06	1.527795	0.27299	.	.	ENSG00000108244	ENST00000209718	D	0.88741	-2.42	5.73	-6.84	0.01687	Filament (1);	0.179938	0.39083	N	0.001468	D	0.83188	0.5200	L	0.49699	1.58	0.09310	N	1	P	0.46784	0.884	P	0.47528	0.549	T	0.78280	-0.2265	10	0.13853	T	0.58	.	11.9888	0.53163	0.216:0.0857:0.6983:0.0	.	102	Q9C075	K1C23_HUMAN	R	102	ENSP00000209718:S102R	ENSP00000209718:S102R	S	-	3	2	KRT23	36346076	0.000000	0.05858	0.000000	0.03702	0.780000	0.44128	-0.100000	0.10990	-1.116000	0.02969	-0.259000	0.10710	AGC	KRT23	-	pfam_IF	ENSG00000108244		0.542	KRT23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT23	HGNC	protein_coding	OTTHUMT00000257223.1	-	0.00	105	0	G			39092550	-1	tier1	-	no_errors	ENST00000209718	ensembl	human	known	74_37	missense	5.00	76	4	SNP	0.010	T
KRT72	140807	genome.wustl.edu	37	12	52984742	52984742	+	Nonsense_Mutation	SNP	G	G	A			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr12:52984742G>A	ENST00000537672.2	-	6	977	c.967C>T	c.(967-969)Cag>Tag	p.Q323*	KRT72_ENST00000398066.3_Nonsense_Mutation_p.Q135*|KRT72_ENST00000354310.4_Intron|KRT72_ENST00000293745.2_Nonsense_Mutation_p.Q323*	NM_001146225.1	NP_001139697.1	Q14CN4	K2C72_HUMAN	keratin 72	323	Coil 2.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		TGCAGCTCCTGGATCTGAGGT	0.537																																																	0													83.0	77.0	79.0					12																	52984742		2203	4300	6503	SO:0001587	stop_gained	0			AY033495	CCDS8833.1, CCDS53795.1	12q13.13	2013-06-25			ENSG00000170486	ENSG00000170486		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28932	protein-coding gene	gene with protein product		608246				12648212, 11703281, 16831889	Standard	NM_080747		Approved	K6IRS2, KRT6IRS2, KRT6, K6irs	uc001saq.2	Q14CN4	OTTHUMG00000169744	ENST00000537672.2:c.967C>T	12.37:g.52984742G>A	ENSP00000441160:p.Gln323*		B4DEI8|H9KV51|Q8NA87|Q8WWY9|Q8WWZ0	Nonsense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_II	p.Q323*	ENST00000537672.2	37	c.967	CCDS8833.1	12	.	.	.	.	.	.	.	.	.	.	G	20.3	3.969531	0.74246	.	.	ENSG00000170486	ENST00000537672;ENST00000293745;ENST00000398066	.	.	.	5.01	5.01	0.66863	.	0.164099	0.29040	N	0.013336	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	11.3067	0.49340	0.0:0.1356:0.7241:0.1403	.	.	.	.	X	323;323;135	.	ENSP00000293745:Q323X	Q	-	1	0	KRT72	51271009	1.000000	0.71417	1.000000	0.80357	0.580000	0.36256	3.940000	0.56599	2.723000	0.93209	0.563000	0.77884	CAG	KRT72	-	pfam_IF,superfamily_Prefoldin	ENSG00000170486		0.537	KRT72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT72	HGNC	protein_coding	OTTHUMT00000405693.1	-	0.00	42	0	G	NM_080747		52984742	-1	tier1	-	no_errors	ENST00000293745	ensembl	human	known	74_37	nonsense	20.00	32	8	SNP	1.000	A
LCLAT1	253558	genome.wustl.edu	37	2	30863186	30863186	+	Missense_Mutation	SNP	C	C	T	rs374373733		TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr2:30863186C>T	ENST00000309052.4	+	7	1155	c.946C>T	c.(946-948)Cgt>Tgt	p.R316C	LCLAT1_ENST00000491680.2_3'UTR|LCLAT1_ENST00000379509.3_Missense_Mutation_p.R278C|LCLAT1_ENST00000540623.1_Missense_Mutation_p.R278C	NM_182551.3	NP_872357.2	Q6UWP7	LCLT1_HUMAN	lysocardiolipin acyltransferase 1	316					cardiolipin acyl-chain remodeling (GO:0035965)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|multicellular organismal development (GO:0007275)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)	p.R316C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)	19						AGAGAGGCTGCGTTCCTTCTA	0.493																																																	1	Substitution - Missense(1)	NS(1)						C	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	116.0	108.0	111.0		946,832	5.8	1.0	2		111	0,8600		0,0,4300	no	missense,missense	LCLAT1	NM_182551.3,NM_001002257.1	180,180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	316/415,278/377	30863186	1,13005	2203	4300	6503	SO:0001583	missense	0			AK095284	CCDS1772.1, CCDS42670.1	2p23.1	2008-12-15	2008-12-15	2008-12-15	ENSG00000172954	ENSG00000172954			26756	protein-coding gene	gene with protein product		614241	"""lysocardiolipin acyltransferase"""	LYCAT		18931347, 15152008, 16620771, 17675553	Standard	NM_001002257		Approved	FLJ37965, ALCAT1, AGPAT8	uc002rnl.3	Q6UWP7	OTTHUMG00000099349	ENST00000309052.4:c.946C>T	2.37:g.30863186C>T	ENSP00000310551:p.Arg316Cys		A6H8Z7|Q8N1Q7	Missense_Mutation	SNP	pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase	p.R316C	ENST00000309052.4	37	c.946	CCDS1772.1	2	.	.	.	.	.	.	.	.	.	.	C	13.20	2.164789	0.38217	2.27E-4	0.0	ENSG00000172954	ENST00000379509;ENST00000444270;ENST00000309052;ENST00000540623	T;T;T	0.43294	0.95;0.95;0.95	5.77	5.77	0.91146	.	0.158299	0.64402	D	0.000013	T	0.41558	0.1164	L	0.58101	1.795	0.80722	D	1	B	0.22604	0.072	B	0.12837	0.008	T	0.29427	-1.0012	10	0.66056	D	0.02	-16.5655	14.1788	0.65559	0.0:0.9289:0.0:0.0711	.	316	Q6UWP7	LCLT1_HUMAN	C	278;278;316;278	ENSP00000368823:R278C;ENSP00000310551:R316C;ENSP00000442857:R278C	ENSP00000310551:R316C	R	+	1	0	LCLAT1	30716690	1.000000	0.71417	0.978000	0.43139	0.212000	0.24457	4.686000	0.61700	2.720000	0.93068	0.557000	0.71058	CGT	LCLAT1	-	NULL	ENSG00000172954		0.493	LCLAT1-001	KNOWN	basic|CCDS	protein_coding	LCLAT1	HGNC	protein_coding	OTTHUMT00000216780.1		0.00	27	0	C	NM_182551		30863186	+1			no_errors	ENST00000309052	ensembl	human	known	74_37	missense	5.41	35	2	SNP	0.995	T
LCT	3938	genome.wustl.edu	37	2	136579654	136579654	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr2:136579654G>T	ENST00000264162.2	-	5	932	c.922C>A	c.(922-924)Caa>Aaa	p.Q308K	AC011893.3_ENST00000437007.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	308	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	GTGAGCACTTGGTCTTTATTT	0.353																																																	0													126.0	129.0	128.0					2																	136579654		2203	4300	6503	SO:0001583	missense	0			X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.922C>A	2.37:g.136579654G>T	ENSP00000264162:p.Gln308Lys		Q4ZG58	Missense_Mutation	SNP	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1	p.Q308K	ENST00000264162.2	37	c.922	CCDS2178.1	2	.	.	.	.	.	.	.	.	.	.	G	11.87	1.768749	0.31320	.	.	ENSG00000115850	ENST00000264162	T	0.26223	1.75	5.44	2.64	0.31445	.	0.785098	0.12352	N	0.476446	T	0.18087	0.0434	L	0.47716	1.5	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.34750	-0.9816	10	0.16420	T	0.52	-1.0974	3.5302	0.07774	0.078:0.2874:0.365:0.2696	.	308	P09848	LPH_HUMAN	K	308	ENSP00000264162:Q308K	ENSP00000264162:Q308K	Q	-	1	0	LCT	136296124	0.004000	0.15560	0.001000	0.08648	0.989000	0.77384	0.228000	0.17814	0.395000	0.25257	0.655000	0.94253	CAA	LCT	-	NULL	ENSG00000115850		0.353	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCT	HGNC	protein_coding	OTTHUMT00000254657.1		0.00	14	0	G	NM_002299		136579654	-1			no_errors	ENST00000264162	ensembl	human	known	74_37	missense	6.15	61	4	SNP	0.002	T
LDLRAD1	388633	genome.wustl.edu	37	1	54474711	54474711	+	Missense_Mutation	SNP	C	C	T	rs544114152		TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr1:54474711C>T	ENST00000371360.1	-	6	579	c.562G>A	c.(562-564)Gac>Aac	p.D188N	LDLRAD1_ENST00000420619.1_Missense_Mutation_p.D149N|LDLRAD1_ENST00000545928.1_Missense_Mutation_p.D145N|LDLRAD1_ENST00000371362.3_Missense_Mutation_p.D99N	NM_001010978.2	NP_001010978.2	Q5T700	LRAD1_HUMAN	low density lipoprotein receptor class A domain containing 1	188	LDL-receptor class A 3; atypical. {ECO:0000255|PROSITE-ProRule:PRU00124}.					integral component of membrane (GO:0016021)				large_intestine(3)|prostate(1)|skin(3)	7						TGTACATGGTCGCGGCAGAGA	0.607													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19360	0.0		0.0	False		,,,				2504	0.0																0													123.0	117.0	119.0					1																	54474711		2203	4300	6503	SO:0001583	missense	0				CCDS30725.1, CCDS60145.1, CCDS60146.1, CCDS60147.1	1p32.3	2008-02-05	2005-10-07		ENSG00000203985	ENSG00000203985			32069	protein-coding gene	gene with protein product			"""low density lipoprotein receptor A domain containing 1"""				Standard	NM_001010978		Approved		uc001cwm.2	Q5T700	OTTHUMG00000008433	ENST00000371360.1:c.562G>A	1.37:g.54474711C>T	ENSP00000360411:p.Asp188Asn		A0PJY0|B7ZME3|Q5T6Z9	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt	p.D188N	ENST00000371360.1	37	c.562	CCDS30725.1	1	.	.	.	.	.	.	.	.	.	.	C	14.75	2.627414	0.46944	.	.	ENSG00000203985	ENST00000371362;ENST00000371360;ENST00000545928;ENST00000420619	D;D;D;D	0.92752	-3.1;-3.1;-3.1;-3.1	4.25	4.25	0.50352	.	0.000000	0.64402	D	0.000012	D	0.89983	0.6873	L	0.48642	1.525	0.40608	D	0.981648	D;D	0.63046	0.992;0.99	P;P	0.49192	0.512;0.602	D	0.89414	0.3705	10	0.46703	T	0.11	-27.4618	9.3942	0.38392	0.0:0.9007:0.0:0.0993	.	145;188	B7ZME3;Q5T700	.;LRAD1_HUMAN	N	99;188;145;149	ENSP00000360413:D99N;ENSP00000360411:D188N;ENSP00000445871:D145N;ENSP00000411017:D149N	ENSP00000360411:D188N	D	-	1	0	LDLRAD1	54247299	0.989000	0.36119	0.833000	0.33012	0.329000	0.28539	3.536000	0.53582	2.201000	0.70794	0.655000	0.94253	GAC	LDLRAD1	-	superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt	ENSG00000203985		0.607	LDLRAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LDLRAD1	HGNC	protein_coding	OTTHUMT00000023243.1	-	0.00	47	0	C	NM_001010978		54474711	-1	tier1	-	no_errors	ENST00000371360	ensembl	human	known	74_37	missense	19.05	34	8	SNP	0.971	T
LEPREL1	55214	genome.wustl.edu	37	3	189692408	189692408	+	Missense_Mutation	SNP	C	C	T	rs537288155		TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr3:189692408C>T	ENST00000319332.5	-	9	1588	c.1391G>A	c.(1390-1392)cGg>cAg	p.R464Q	LEPREL1_ENST00000427335.2_Missense_Mutation_p.R283Q	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	464					collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|peptidyl-proline hydroxylation (GO:0019511)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)	p.R464Q(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CAGGAGAACCCGCTGAGTCCC	0.567													C|||	1	0.000199681	0.0	0.0	5008	,	,		17258	0.001		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	endometrium(1)											77.0	64.0	69.0					3																	189692408		2203	4300	6503	SO:0001583	missense	0				CCDS3294.1, CCDS46981.1	3q29	2014-01-28			ENSG00000090530	ENSG00000090530	1.14.11.7		19317	protein-coding gene	gene with protein product	"""prolyl 3-hydroxylase 2"""	610341				15063763, 21885030	Standard	NM_018192		Approved	FLJ10718, MLAT4, P3H2	uc011bsk.2	Q8IVL5	OTTHUMG00000156312	ENST00000319332.5:c.1391G>A	3.37:g.189692408C>T	ENSP00000316881:p.Arg464Gln		B3KPK0|B3KWI9|D3DNV8|Q9NVI2	Missense_Mutation	SNP	pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph	p.R464Q	ENST00000319332.5	37	c.1391	CCDS3294.1	3	.	.	.	.	.	.	.	.	.	.	C	35	5.562310	0.96527	.	.	ENSG00000090530	ENST00000319332;ENST00000427335	T;T	0.78003	-1.14;-1.14	5.81	4.94	0.65067	Prolyl 4-hydroxylase, alpha subunit (1);	0.059424	0.64402	N	0.000002	D	0.88973	0.6583	M	0.86740	2.835	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.90267	0.4305	9	.	.	.	-19.1796	14.0904	0.64987	0.0:0.928:0.0:0.072	.	464	Q8IVL5	P3H2_HUMAN	Q	464;283	ENSP00000316881:R464Q;ENSP00000408947:R283Q	.	R	-	2	0	LEPREL1	191175102	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.406000	0.80017	1.455000	0.47813	0.655000	0.94253	CGG	LEPREL1	-	smart_Pro_4_hyd_alph	ENSG00000090530		0.567	LEPREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LEPREL1	HGNC	protein_coding	OTTHUMT00000343855.1	-	0.00	59	0	C	NM_018192		189692408	-1	tier1	-	no_errors	ENST00000319332	ensembl	human	known	74_37	missense	31.58	26	12	SNP	1.000	T
LNX1	84708	genome.wustl.edu	37	4	54373551	54373551	+	Silent	SNP	G	G	A	rs143497847	byFrequency	TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr4:54373551G>A	ENST00000263925.7	-	4	1022	c.708C>T	c.(706-708)agC>agT	p.S236S	LNX1_ENST00000306888.2_Silent_p.S140S|LNX1-AS1_ENST00000511989.1_RNA|LNX1-AS1_ENST00000514364.1_RNA|LNX1-AS1_ENST00000510785.1_RNA|FIP1L1_ENST00000507166.1_Intron	NM_001126328.2	NP_001119800.1	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	236	Interaction with MAGEB18.				protein homooligomerization (GO:0051260)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			CTGCACTCCCGCTCTTTGTCC	0.473																																																	0													122.0	115.0	117.0					4																	54373551		2203	4300	6503	SO:0001819	synonymous_variant	0			AF237782	CCDS3492.1, CCDS47057.1	4q12	2013-01-09	2012-02-23	2005-11-04	ENSG00000072201	ENSG00000072201		"""RING-type (C3HC4) zinc fingers"""	6657	protein-coding gene	gene with protein product		609732	"""ligand of numb-protein X"", ""ligand of numb-protein X 1"""	LNX		11521506, 11782429	Standard	NM_032622		Approved	MPDZ, PDZRN2	uc003hag.5	Q8TBB1	OTTHUMG00000102099	ENST00000263925.7:c.708C>T	4.37:g.54373551G>A			Q4W5K7|Q8N4C2|Q96MJ7|Q9BY20	Silent	SNP	pfam_PDZ,superfamily_PDZ,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING	p.S236	ENST00000263925.7	37	c.708	CCDS47057.1	4																																																																																			LNX1	-	superfamily_PDZ	ENSG00000072201		0.473	LNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LNX1	HGNC	protein_coding	OTTHUMT00000219934.2	-	0.00	35	0	G			54373551	-1	tier1	-	no_errors	ENST00000263925	ensembl	human	known	74_37	silent	15.94	58	11	SNP	0.979	A
LOC440040	440040	genome.wustl.edu	37	11	49805489	49805489	+	RNA	SNP	A	A	C			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr11:49805489A>C	ENST00000527477.1	+	0	1177																											AGCTTTGATAAGCTGCTGAAG	0.532																																																	0																																												0																															11.37:g.49805489A>C				RNA	SNP	-	NULL	ENST00000527477.1	37	NULL		11																																																																																			RP11-707M1.1	-	-	ENSG00000205035		0.532	RP11-707M1.1-003	KNOWN	basic	processed_transcript	LOC440040	Clone_based_vega_gene	pseudogene	OTTHUMT00000391378.2	-	0.00	91	0	A			49805489	+1	tier1	-	no_errors	ENST00000527477	ensembl	human	known	74_37	rna	13.56	51	8	SNP	1.000	C
LONP2	83752	genome.wustl.edu	37	16	48368153	48368153	+	Nonsense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr16:48368153G>T	ENST00000285737.4	+	12	1915	c.1822G>T	c.(1822-1824)Gaa>Taa	p.E608*	LONP2_ENST00000535754.1_Nonsense_Mutation_p.E564*	NM_031490.2	NP_113678.2			lon peptidase 2, peroxisomal											breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						CTTAGAAGATGAAAAACCTGA	0.383																																																	0													125.0	116.0	119.0					16																	48368153		2200	4300	6500	SO:0001587	stop_gained	0			AJ548761	CCDS10734.1, CCDS73880.1	16q12.1	2010-04-21			ENSG00000102910	ENSG00000102910		"""ATPases / AAA-type"""	20598	protein-coding gene	gene with protein product						14561759	Standard	XM_005256191		Approved	MGC4840, LONP, LONPL	uc002efi.1	Q86WA8	OTTHUMG00000133144	ENST00000285737.4:c.1822G>T	16.37:g.48368153G>T	ENSP00000285737:p.Glu608*			Nonsense_Mutation	SNP	pfam_Pept_S16_C,pfam_Pept_S16_N,pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_P-loop_NTPase,superfamily_PUA-like_domain,smart_Pept_S16_N,smart_AAA+_ATPase,tigrfam_Lon_bac/euk-typ	p.E608*	ENST00000285737.4	37	c.1822	CCDS10734.1	16	.	.	.	.	.	.	.	.	.	.	G	35	5.461822	0.96240	.	.	ENSG00000102910	ENST00000285737;ENST00000544734;ENST00000535754;ENST00000416006	.	.	.	5.36	1.01	0.19927	.	0.970884	0.08558	N	0.927991	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	0.0441	4.9819	0.14170	0.3011:0.0:0.567:0.1319	.	.	.	.	X	608;337;564;564	.	ENSP00000285737:E608X	E	+	1	0	LONP2	46925654	0.835000	0.29415	0.084000	0.20598	0.924000	0.55760	0.473000	0.22132	-0.031000	0.13781	0.655000	0.94253	GAA	LONP2	-	tigrfam_Lon_bac/euk-typ	ENSG00000102910		0.383	LONP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LONP2	HGNC	protein_coding	OTTHUMT00000256839.2		0.00	18	0	G	NM_031490		48368153	+1			no_errors	ENST00000285737	ensembl	human	known	74_37	nonsense	11.11	32	4	SNP	0.450	T
LPA	4018	genome.wustl.edu	37	6	160963720	160963720	+	Splice_Site	SNP	C	C	A			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr6:160963720C>A	ENST00000316300.5	-	34	5563	c.5519G>T	c.(5518-5520)aGg>aTg	p.R1840M	LPA_ENST00000447678.1_Splice_Site_p.R1840M			P08519	APOA_HUMAN	lipoprotein, Lp(a)	4348	Kringle 16. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	CTGTTCTTACCTTGTTCTGAG	0.512																																																	0													95.0	94.0	94.0					6																	160963720		2203	4300	6503	SO:0001630	splice_region_variant	0			X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.5519+1G>T	6.37:g.160963720C>A			Q5VTD7|Q9UD88	Missense_Mutation	SNP	pfam_Kringle,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Kringle,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Kringle,pfscan_Peptidase_S1	p.R1840M	ENST00000316300.5	37	c.5519	CCDS43523.1	6	.	.	.	.	.	.	.	.	.	.	c	10.45	1.354647	0.24512	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	D;D	0.89485	-2.52;-2.52	2.54	2.54	0.30619	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.90198	0.6936	M	0.65677	2.01	0.36571	D	0.873004	D	0.71674	0.998	D	0.75020	0.985	D	0.89107	0.3493	8	.	.	.	.	10.2631	0.43438	0.0:1.0:0.0:0.0	.	4348	P08519	APOA_HUMAN	M	1840	ENSP00000321334:R1840M;ENSP00000395608:R1840M	.	R	-	2	0	LPA	160883710	1.000000	0.71417	0.954000	0.39281	0.418000	0.31294	3.717000	0.54911	1.422000	0.47177	0.205000	0.17691	AGG	LPA	-	pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000198670		0.512	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPA	HGNC	protein_coding	OTTHUMT00000042957.1	-	0.00	76	0	C	NM_005577	Missense_Mutation	160963720	-1	tier1	-	no_errors	ENST00000316300	ensembl	human	known	74_37	missense	34.16	160	83	SNP	1.000	A
LPO	4025	genome.wustl.edu	37	17	56345181	56345181	+	Missense_Mutation	SNP	C	C	A			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr17:56345181C>A	ENST00000262290.4	+	13	2281	c.1965C>A	c.(1963-1965)aaC>aaA	p.N655K	LPO_ENST00000421678.2_Missense_Mutation_p.N572K|LPO_ENST00000543544.1_Missense_Mutation_p.N596K|LPO_ENST00000582328.1_Missense_Mutation_p.N572K	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	655					defense response to bacterium (GO:0042742)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|hydrogen peroxide catabolic process (GO:0042744)|response to oxidative stress (GO:0006979)|thiocyanate metabolic process (GO:0018969)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|thiocyanate peroxidase activity (GO:0036393)	p.N655N(1)		breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						TCTTCACGAACGAGCAGAAGG	0.577																																																	1	Substitution - coding silent(1)	prostate(1)											87.0	84.0	85.0					17																	56345181		2203	4300	6503	SO:0001583	missense	0			M58151	CCDS32689.1, CCDS54149.1	17q23.1	2008-02-05				ENSG00000167419	1.11.1.7		6678	protein-coding gene	gene with protein product		150205				2222811, 8964511	Standard	NM_006151		Approved	SPO	uc002ivt.3	P22079		ENST00000262290.4:c.1965C>A	17.37:g.56345181C>A	ENSP00000262290:p.Asn655Lys		A5JUY4|E7EMJ3|Q13408|Q3KNQ2	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.N655K	ENST00000262290.4	37	c.1965	CCDS32689.1	17	.	.	.	.	.	.	.	.	.	.	C	0.072	-1.199983	0.01581	.	.	ENSG00000167419	ENST00000262290;ENST00000421678;ENST00000543544;ENST00000389576	T;T;T	0.67345	-0.26;-0.26;-0.26	5.28	1.83	0.25207	.	1.391060	0.03843	N	0.271034	T	0.33381	0.0861	N	0.00869	-1.13	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.35351	-0.9792	10	0.18710	T	0.47	-5.0632	4.2745	0.10802	0.1791:0.4643:0.3565:0.0	.	572;655	E7EMJ3;P22079	.;PERL_HUMAN	K	655;572;596;400	ENSP00000262290:N655K;ENSP00000400245:N572K;ENSP00000445344:N596K	ENSP00000262290:N655K	N	+	3	2	LPO	53700180	0.000000	0.05858	0.854000	0.33618	0.268000	0.26511	-0.151000	0.10175	1.242000	0.43836	-0.134000	0.14843	AAC	LPO	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal	ENSG00000167419		0.577	LPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LPO	HGNC	protein_coding	OTTHUMT00000443961.1		0.00	76	0	C			56345181	+1			no_errors	ENST00000262290	ensembl	human	known	74_37	missense	7.89	35	3	SNP	0.001	A
LRIT3	345193	genome.wustl.edu	37	4	110791309	110791309	+	Silent	SNP	G	G	A			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr4:110791309G>A	ENST00000594814.1	+	4	1404	c.1404G>A	c.(1402-1404)aaG>aaA	p.K468K	LRIT3_ENST00000379920.3_Silent_p.K423K|LRIT3_ENST00000327908.3_Silent_p.K285K|LRIT3_ENST00000409621.2_Silent_p.K285K	NM_198506.3	NP_940908.3	Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	468					regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		GCACAAGTAAGAAAGAAGAGC	0.458																																																	0													67.0	68.0	68.0					4																	110791309		2203	4300	6503	SO:0001819	synonymous_variant	0			AK126648	CCDS3688.2, CCDS3688.3	4q25	2014-01-28	2007-06-19		ENSG00000183423	ENSG00000183423		"""Immunoglobulin superfamily / I-set domain containing"""	24783	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 4"""	615004					Standard	NM_198506		Approved	FLJ44691, FIGLER4, CSNB1F	uc031sgv.1	Q3SXY7	OTTHUMG00000132043	ENST00000594814.1:c.1404G>A	4.37:g.110791309G>A			C9J1C2|Q6ZTG1	Silent	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.K468	ENST00000594814.1	37	c.1404	CCDS3688.3	4																																																																																			LRIT3	-	NULL	ENSG00000183423		0.458	LRIT3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIT3	HGNC	protein_coding	OTTHUMT00000335270.2	-	0.00	17	0	G	NM_198506		110791309	+1	tier1	-	no_errors	ENST00000594814	ensembl	human	known	74_37	silent	19.64	45	11	SNP	1.000	A
LRRIQ3	127255	genome.wustl.edu	37	1	74540391	74540391	+	Silent	SNP	T	T	C			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr1:74540391T>C	ENST00000395089.1	-	5	950	c.951A>G	c.(949-951)aaA>aaG	p.K317K	LRRIQ3_ENST00000354431.4_Silent_p.K317K			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	317										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TGCCTAGATCTTTTGGTTTTA	0.224																																																	0													48.0	41.0	43.0					1																	74540391		1764	4015	5779	SO:0001819	synonymous_variant	0			BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"""leucine rich repeat containing 44"""	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.951A>G	1.37:g.74540391T>C			A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Silent	SNP	pfscan_IQ_motif_EF-hand-BS	p.K317	ENST00000395089.1	37	c.951	CCDS41350.1	1																																																																																			LRRIQ3	-	NULL	ENSG00000162620		0.224	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LRRIQ3	HGNC	protein_coding	OTTHUMT00000316539.1	-	0.00	21	0	T	NM_145258		74540391	-1	tier1	-	no_errors	ENST00000354431	ensembl	human	known	74_37	silent	48.48	17	16	SNP	0.977	C
LRTM1	57408	genome.wustl.edu	37	3	54958816	54958816	+	Missense_Mutation	SNP	C	C	A			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr3:54958816C>A	ENST00000273286.5	-	2	596	c.434G>T	c.(433-435)tGg>tTg	p.W145L	LRTM1_ENST00000493075.1_Missense_Mutation_p.W69L|CACNA2D3_ENST00000490478.1_Intron|CACNA2D3_ENST00000288197.5_Intron|CACNA2D3_ENST00000474759.1_Intron|CACNA2D3_ENST00000415676.2_Intron	NM_020678.2	NP_065729.1	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	145						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		TAGGTTCTCCCAAGTCTCTCC	0.493																																																	0													94.0	91.0	92.0					3																	54958816		2203	4300	6503	SO:0001583	missense	0			AF225421	CCDS2876.1	3p14.3	2006-01-02			ENSG00000144771	ENSG00000144771			25023	protein-coding gene	gene with protein product						12477932	Standard	NM_020678		Approved	HT017	uc003dhl.3	Q9HBL6	OTTHUMG00000158578	ENST00000273286.5:c.434G>T	3.37:g.54958816C>A	ENSP00000273286:p.Trp145Leu		Q8IUU2	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.W145L	ENST00000273286.5	37	c.434	CCDS2876.1	3	.	.	.	.	.	.	.	.	.	.	C	1.325	-0.598411	0.03744	.	.	ENSG00000144771	ENST00000273286;ENST00000493075	T;D	0.84146	4.87;-1.81	5.96	4.02	0.46733	.	0.469929	0.24152	N	0.041063	T	0.34483	0.0899	N	0.00009	-3.08	0.32465	N	0.543545	B	0.15930	0.015	B	0.17433	0.018	T	0.61148	-0.7121	10	0.02654	T	1	.	3.3537	0.07162	0.2413:0.494:0.1799:0.0848	.	145	Q9HBL6	LRTM1_HUMAN	L	145;69	ENSP00000273286:W145L;ENSP00000419772:W69L	ENSP00000273286:W145L	W	-	2	0	LRTM1	54933856	1.000000	0.71417	0.998000	0.56505	0.522000	0.34438	3.132000	0.50523	2.824000	0.97209	0.655000	0.94253	TGG	LRTM1	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000144771		0.493	LRTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRTM1	HGNC	protein_coding	OTTHUMT00000351399.1		0.00	11	0	C	NM_020678		54958816	-1			no_errors	ENST00000273286	ensembl	human	known	74_37	missense	12.90	27	4	SNP	0.923	A
LSP1	4046	genome.wustl.edu	37	11	1908055	1908055	+	Nonsense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr11:1908055G>T	ENST00000311604.3	+	8	986	c.811G>T	c.(811-813)Gag>Tag	p.E271*	LSP1_ENST00000485341.1_3'UTR|LSP1_ENST00000406638.2_Nonsense_Mutation_p.E209*|LSP1_ENST00000405957.2_Nonsense_Mutation_p.E209*|LSP1_ENST00000381775.1_Nonsense_Mutation_p.E399*	NM_002339.2	NP_002330.1	P33241	LSP1_HUMAN	lymphocyte-specific protein 1	271					cellular component movement (GO:0006928)|cellular defense response (GO:0006968)|chemotaxis (GO:0006935)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|signal transducer activity (GO:0004871)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856)		GGAGACGGGTGAGGTACAGGC	0.652																																																	0													39.0	41.0	40.0					11																	1908055		2202	4296	6498	SO:0001587	stop_gained	0			M33552	CCDS31334.1, CCDS31335.1, CCDS58110.1	11p15.5	2008-02-05			ENSG00000130592	ENSG00000130592			6707	protein-coding gene	gene with protein product		153432				2174784	Standard	NM_001242932		Approved	WP34	uc001luj.3	P33241	OTTHUMG00000012252	ENST00000311604.3:c.811G>T	11.37:g.1908055G>T	ENSP00000308383:p.Glu271*		B3KPP1|B3KRR6|E9PBV6|E9PFP3|Q16096|Q53H48|Q6FHM3|Q9BUY8	Nonsense_Mutation	SNP	pfam_Caldesmon_LSP,prints_Lymphspecific	p.E271*	ENST00000311604.3	37	c.811	CCDS31334.1	11	.	.	.	.	.	.	.	.	.	.	.	35	5.517962	0.96416	.	.	ENSG00000130592	ENST00000311604;ENST00000381775;ENST00000405957;ENST00000457279;ENST00000406638;ENST00000417766;ENST00000432093	.	.	.	3.3	2.32	0.28847	.	0.182139	0.25267	N	0.031906	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-25.5017	10.3235	0.43780	0.0:0.2017:0.7983:0.0	.	.	.	.	X	271;399;209;262;209;209;209	.	ENSP00000308383:E271X	E	+	1	0	LSP1	1864631	1.000000	0.71417	0.981000	0.43875	0.598000	0.36846	4.086000	0.57664	0.665000	0.31066	0.455000	0.32223	GAG	LSP1	-	pfam_Caldesmon_LSP,prints_Lymphspecific	ENSG00000130592		0.652	LSP1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	LSP1	HGNC	protein_coding	OTTHUMT00000034045.3	-	0.00	168	0	G	NM_002339		1908055	+1	tier1	-	no_errors	ENST00000311604	ensembl	human	known	74_37	nonsense	5.41	105	6	SNP	0.993	T
LXN	56925	genome.wustl.edu	37	3	158384523	158384523	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr3:158384523G>T	ENST00000264265.3	-	6	795	c.581C>A	c.(580-582)cCc>cAc	p.P194H	GFM1_ENST00000486715.1_Intron|GFM1_ENST00000478576.1_Intron|GFM1_ENST00000264263.5_Intron	NM_020169.3	NP_064554.3	Q9BS40	LXN_HUMAN	latexin	194	Cystatin-like fold 2. {ECO:0000250}.				detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|inflammatory response (GO:0006954)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	heparin binding (GO:0008201)|metalloendopeptidase inhibitor activity (GO:0008191)			breast(2)|endometrium(1)|kidney(2)	5			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			CATTTGCCAGGGAATAATCTC	0.358																																																	0													99.0	93.0	95.0					3																	158384523		2203	4300	6503	SO:0001583	missense	0			AF087851	CCDS3183.1	3q25.32	2004-05-10			ENSG00000079257	ENSG00000079257			13347	protein-coding gene	gene with protein product		609305					Standard	NM_020169		Approved		uc003fch.3	Q9BS40	OTTHUMG00000158807	ENST00000264265.3:c.581C>A	3.37:g.158384523G>T	ENSP00000264265:p.Pro194His		Q96PN2|Q9NQS6	Missense_Mutation	SNP	pfam_Prot_inh_latexin,pirsf_Prot_inh_latexin	p.P194H	ENST00000264265.3	37	c.581	CCDS3183.1	3	.	.	.	.	.	.	.	.	.	.	G	13.28	2.190619	0.38707	.	.	ENSG00000079257	ENST00000264265	T	0.27256	1.68	6.08	6.08	0.98989	.	0.112583	0.64402	D	0.000006	T	0.43700	0.1259	L	0.58428	1.81	0.52099	D	0.999944	D	0.55605	0.972	P	0.59221	0.854	T	0.04053	-1.0981	10	0.12766	T	0.61	-13.9419	20.2585	0.98435	0.0:0.0:1.0:0.0	.	194	Q9BS40	LXN_HUMAN	H	194	ENSP00000264265:P194H	ENSP00000264265:P194H	P	-	2	0	LXN	159867217	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	5.197000	0.65141	2.894000	0.99253	0.655000	0.94253	CCC	LXN	-	pfam_Prot_inh_latexin,pirsf_Prot_inh_latexin	ENSG00000079257		0.358	LXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LXN	HGNC	protein_coding	OTTHUMT00000352284.1		0.00	13	0	G	NM_020169		158384523	-1			no_errors	ENST00000264265	ensembl	human	known	74_37	missense	9.09	39	4	SNP	0.998	T
MACF1	23499	genome.wustl.edu	37	1	39765985	39765985	+	Nonsense_Mutation	SNP	T	T	A			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr1:39765985T>A	ENST00000372915.3	+	21	2687	c.2600T>A	c.(2599-2601)tTa>tAa	p.L867*	MACF1_ENST00000567887.1_Nonsense_Mutation_p.L899*|MACF1_ENST00000564288.1_Nonsense_Mutation_p.L862*|MACF1_ENST00000539005.1_Nonsense_Mutation_p.L867*|MACF1_ENST00000317713.7_Nonsense_Mutation_p.L867*|MACF1_ENST00000545844.1_Nonsense_Mutation_p.L867*|MACF1_ENST00000361689.2_Nonsense_Mutation_p.L867*			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	867					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GACCATGTGTTAAAGAACACC	0.493																																																	0													134.0	112.0	120.0					1																	39765985		2203	4300	6503	SO:0001587	stop_gained	0			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.2600T>A	1.37:g.39765985T>A	ENSP00000362006:p.Leu867*		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Nonsense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.L867*	ENST00000372915.3	37	c.2600		1	.	.	.	.	.	.	.	.	.	.	T	42	9.522218	0.99195	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000524432;ENST00000530262;ENST00000372900	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.1501	0.81611	0.0:0.0:0.0:1.0	.	.	.	.	X	867;867;867;867;867;825;1016;1029	.	ENSP00000313438:L867X	L	+	2	0	MACF1	39538572	1.000000	0.71417	0.986000	0.45419	0.281000	0.26958	8.040000	0.89188	2.219000	0.72066	0.533000	0.62120	TTA	MACF1	-	NULL	ENSG00000127603		0.493	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	HGNC	protein_coding	OTTHUMT00000392096.1		0.00	29	0	T	NM_033044		39765985	+1			no_errors	ENST00000317713	ensembl	human	known	74_37	nonsense	7.55	49	4	SNP	0.996	A
LYST	1130	genome.wustl.edu	37	1	235878571	235878571	+	Silent	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr1:235878571G>T	ENST00000389794.3	-	42	9888	c.9714C>A	c.(9712-9714)tcC>tcA	p.S3238S	LYST_ENST00000389793.2_Silent_p.S3238S|LYST_ENST00000473037.1_5'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	3238	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.				blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TGCCGCTATTGGAATAGTGGG	0.463																																																	0													109.0	108.0	109.0					1																	235878571		2203	4300	6503	SO:0001819	synonymous_variant	0			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.9714C>A	1.37:g.235878571G>T			O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Silent	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S3238	ENST00000389794.3	37	c.9714	CCDS31062.1	1																																																																																			LYST	-	pfam_BEACH_dom,superfamily_BEACH_dom,superfamily_ARM-type_fold,pfscan_BEACH_dom	ENSG00000143669		0.463	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYST	HGNC	protein_coding	OTTHUMT00000097533.5	-	0.00	36	0	G			235878571	-1	tier1	-	no_errors	ENST00000389793	ensembl	human	known	74_37	silent	5.63	67	4	SNP	0.971	T
MAML2	84441	genome.wustl.edu	37	11	95825372	95825374	+	In_Frame_Del	DEL	TGT	TGT	-	rs60727839|rs543548810|rs112603485|rs141671766	byFrequency	TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	TGT	TGT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr11:95825372_95825374delTGT	ENST00000524717.1	-	2	3105_3107	c.1821_1823delACA	c.(1819-1824)caacag>cag	p.607_608QQ>Q		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	607					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.Q607Q(1)	CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				ctgctgctgctgttgctgctgct	0.532			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid																																			Dom	yes		11	11q22-q23	84441	mastermind-like 2 (Drosophila)		E	1	Substitution - coding silent(1)	endometrium(1)																																								SO:0001651	inframe_deletion	0			AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"""mastermind (Drosophila)-like 2"""			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.1821_1823delACA	11.37:g.95825372_95825374delTGT	ENSP00000434552:p.Gln621del		A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	In_Frame_Del	DEL	pfam_Neuroggenic_mastermind-like_N	p.Q611in_frame_del	ENST00000524717.1	37	c.1823_1821	CCDS44714.1	11																																																																																			MAML2	-	NULL	ENSG00000184384		0.532	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAML2	HGNC	protein_coding	OTTHUMT00000395540.1		0.00	71	0	TGT			95825374	-1	tier1		no_errors	ENST00000524717	ensembl	human	known	74_37	in_frame_del	10.87	41	5	DEL	0.003:0.003:0.003	-
MAN1A1	4121	genome.wustl.edu	37	6	119623233	119623233	+	Missense_Mutation	SNP	C	C	A			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr6:119623233C>A	ENST00000368468.3	-	4	1177	c.736G>T	c.(736-738)Gat>Tat	p.D246Y	MAN1A1_ENST00000368466.2_Missense_Mutation_p.D269Y	NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	246					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|mannosidase activity (GO:0015923)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		AAAAGTGTATCCAGGGCATCT	0.274																																					Ovarian(136;8 1825 12608 33541 47587)												0													49.0	51.0	51.0					6																	119623233		2201	4282	6483	SO:0001583	missense	0			AK025599	CCDS5122.1	6q22	2008-08-29			ENSG00000111885	ENSG00000111885	3.2.1.113		6821	protein-coding gene	gene with protein product		604344				8223597	Standard	NM_005907		Approved		uc003pym.2	P33908	OTTHUMG00000015472	ENST00000368468.3:c.736G>T	6.37:g.119623233C>A	ENSP00000357453:p.Asp246Tyr		E7EU32|Q6P052|Q9NU44|Q9UJI3	Missense_Mutation	SNP	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47	p.D246Y	ENST00000368468.3	37	c.736	CCDS5122.1	6	.	.	.	.	.	.	.	.	.	.	C	25.6	4.652492	0.88056	.	.	ENSG00000111885	ENST00000368468;ENST00000368466	T;T	0.81330	-1.48;-1.48	6.13	6.13	0.99165	.	0.086462	0.85682	D	0.000000	D	0.95069	0.8403	H	0.99650	4.68	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.987	D	0.96647	0.9478	9	.	.	.	-4.9717	19.6116	0.95608	0.0:1.0:0.0:0.0	.	269;246	Q6P052;P33908	.;MA1A1_HUMAN	Y	246;269	ENSP00000357453:D246Y;ENSP00000357451:D269Y	.	D	-	1	0	MAN1A1	119664932	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.763000	0.74955	2.932000	0.99384	0.644000	0.83932	GAT	MAN1A1	-	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47	ENSG00000111885		0.274	MAN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN1A1	HGNC	protein_coding	OTTHUMT00000042015.1	-	0.00	22	0	C	NM_005907		119623233	-1	tier1	-	no_errors	ENST00000368468	ensembl	human	known	74_37	missense	28.57	85	34	SNP	1.000	A
MAP3K1	4214	genome.wustl.edu	37	5	56181839	56181839	+	Missense_Mutation	SNP	C	C	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr5:56181839C>T	ENST00000399503.3	+	17	4063	c.4063C>T	c.(4063-4065)Cgt>Tgt	p.R1355C		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	1355	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|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)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		ACAGTTACTCCGTGGCCTTTC	0.338																																																	0													96.0	89.0	91.0					5																	56181839		1835	4084	5919	SO:0001583	missense	0			U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.4063C>T	5.37:g.56181839C>T	ENSP00000382423:p.Arg1355Cys			Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_dom	p.R1355C	ENST00000399503.3	37	c.4063	CCDS43318.1	5	.	.	.	.	.	.	.	.	.	.	C	26.1	4.706312	0.89018	.	.	ENSG00000095015	ENST00000399503	T	0.67698	-0.28	5.51	5.51	0.81932	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.77824	0.4188	L	0.42245	1.32	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.78422	-0.2210	10	0.59425	D	0.04	.	19.414	0.94688	0.0:1.0:0.0:0.0	.	1355	Q13233	M3K1_HUMAN	C	1355	ENSP00000382423:R1355C	ENSP00000382423:R1355C	R	+	1	0	MAP3K1	56217596	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.681000	0.61663	2.591000	0.87537	0.655000	0.94253	CGT	MAP3K1	-	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	ENSG00000095015		0.338	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MAP3K1	HGNC	protein_coding	OTTHUMT00000132309.2	-	0.00	24	0	C	XM_042066		56181839	+1	tier1	-	no_errors	ENST00000399503	ensembl	human	novel	74_37	missense	23.44	49	15	SNP	1.000	T
MAP3K19	80122	genome.wustl.edu	37	2	135756498	135756498	+	Silent	SNP	C	C	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr2:135756498C>T	ENST00000375845.3	-	5	414	c.384G>A	c.(382-384)acG>acA	p.T128T	MAP3K19_ENST00000358371.4_Intron|MAP3K19_ENST00000392918.3_Silent_p.T128T|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392915.1_Silent_p.T145T|MAP3K19_ENST00000375844.3_Silent_p.T128T|MAP3K19_ENST00000392917.3_Silent_p.T128T	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	128							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										TGAGCTCCACCGTTTCTATTT	0.433																																																	0													95.0	93.0	94.0					2																	135756498		2203	4300	6503	SO:0001819	synonymous_variant	0			AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	26249	protein-coding gene	gene with protein product			"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.384G>A	2.37:g.135756498C>T			B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Silent	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.T128	ENST00000375845.3	37	c.384	CCDS2176.2	2																																																																																			MAP3K19	-	NULL	ENSG00000176601		0.433	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP3K19	HGNC	protein_coding	OTTHUMT00000158244.1	-	0.00	23	0	C	NM_025052		135756498	-1	tier1	-	no_errors	ENST00000375845	ensembl	human	known	74_37	silent	35.90	25	14	SNP	0.000	T
MASP1	5648	genome.wustl.edu	37	3	186953746	186953746	+	Intron	SNP	G	G	A			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr3:186953746G>A	ENST00000337774.5	-	10	1693				MASP1_ENST00000392472.2_Missense_Mutation_p.S525L|MASP1_ENST00000296280.6_Missense_Mutation_p.S638L|MASP1_ENST00000495249.1_5'UTR	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)						complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|negative regulation of complement activation (GO:0045916)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		GTAATTGCCCGAGCGGGACTC	0.542																																																	0													105.0	85.0	92.0					3																	186953746		2203	4300	6503	SO:0001627	intron_variant	0			D28593	CCDS33907.1, CCDS33908.1, CCDS33909.1	3q27-q28	2014-09-17	2005-08-17		ENSG00000127241	ENSG00000127241		"""Serine peptidases / Serine peptidases"""	6901	protein-coding gene	gene with protein product		600521	"""mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)"""	CRARF, PRSS5		8018603, 8240317	Standard	NR_033519		Approved	MASP	uc003fri.3	P48740	OTTHUMG00000156461	ENST00000337774.5:c.1303+5522C>T	3.37:g.186953746G>A			A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_CUB_dom,pfam_Sushi_SCR_CCP,pfam_EGF-like_Ca-bd_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1	p.S638L	ENST00000337774.5	37	c.1913	CCDS33907.1	3	.	.	.	.	.	.	.	.	.	.	G	17.93	3.508467	0.64410	.	.	ENSG00000127241	ENST00000296280;ENST00000392472	D;D	0.83335	-1.69;-1.71	5.87	4.94	0.65067	.	0.439108	0.26963	N	0.021608	T	0.73458	0.3589	N	0.16098	0.37	0.80722	D	1	P;B	0.46912	0.886;0.286	P;B	0.45099	0.469;0.091	T	0.73975	-0.3813	10	0.35671	T	0.21	.	13.2154	0.59856	0.0824:0.0:0.9176:0.0	.	525;638	P48740-4;P48740-2	.;.	L	638;525	ENSP00000296280:S638L;ENSP00000376264:S525L	ENSP00000296280:S638L	S	-	2	0	MASP1	188436440	1.000000	0.71417	0.019000	0.16419	0.947000	0.59692	7.780000	0.85658	1.491000	0.48482	0.655000	0.94253	TCG	MASP1	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000127241		0.542	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MASP1	HGNC	protein_coding	OTTHUMT00000344262.1	-	0.00	37	0	G	NM_001879		186953746	-1	tier1	-	no_errors	ENST00000296280	ensembl	human	known	74_37	missense	26.67	11	4	SNP	0.964	A
MAST4	375449	genome.wustl.edu	37	5	66430447	66430447	+	Nonsense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr5:66430447G>T	ENST00000403625.2	+	18	2618	c.2323G>T	c.(2323-2325)Gaa>Taa	p.E775*	MAST4_ENST00000403666.1_Nonsense_Mutation_p.E586*|MAST4_ENST00000404260.3_Nonsense_Mutation_p.E778*|MAST4_ENST00000261569.7_Nonsense_Mutation_p.E581*|MAST4_ENST00000405643.1_Nonsense_Mutation_p.E596*	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	778	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		TATCCTCTATGAATTTCTGGT	0.468																																																	0													191.0	203.0	199.0					5																	66430447		1919	4155	6074	SO:0001587	stop_gained	0			AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.2323G>T	5.37:g.66430447G>T	ENSP00000385727:p.Glu775*		A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Nonsense_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.E778*	ENST00000403625.2	37	c.2332	CCDS54861.1	5	.	.	.	.	.	.	.	.	.	.	G	38	6.907477	0.97924	.	.	ENSG00000069020	ENST00000404260;ENST00000403625;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569;ENST00000432399	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-21.5128	19.5141	0.95155	0.0:0.0:1.0:0.0	.	.	.	.	X	778;775;586;596;596;581;581	.	ENSP00000261569:E581X	E	+	1	0	MAST4	66466203	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.629000	0.89072	0.650000	0.86243	GAA	MAST4	-	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	ENSG00000069020		0.468	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	MAST4	HGNC	protein_coding	OTTHUMT00000326324.2		0.00	46	0	G			66430447	+1			no_errors	ENST00000404260	ensembl	human	known	74_37	nonsense	5.13	74	4	SNP	1.000	T
MBOAT1	154141	genome.wustl.edu	37	6	20152953	20152953	+	Missense_Mutation	SNP	C	C	G			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr6:20152953C>G	ENST00000324607.7	-	2	311	c.147G>C	c.(145-147)tgG>tgC	p.W49C	MBOAT1_ENST00000541730.1_5'UTR|MBOAT1_ENST00000536798.1_Missense_Mutation_p.W49C	NM_001080480.1	NP_001073949.1	Q6ZNC8	MBOA1_HUMAN	membrane bound O-acyltransferase domain containing 1	49					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)			breast(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(5)	20	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)			AGATGCGAAACCAGAAAGCAG	0.448																																																	0													93.0	91.0	92.0					6																	20152953		2203	4300	6503	SO:0001583	missense	0			AK093994	CCDS34346.1	6p22.3	2013-10-11	2006-06-29	2006-06-29	ENSG00000172197	ENSG00000172197			21579	protein-coding gene	gene with protein product	"""lysophosphatidylethanolamine acyltransferase 1"""	611732	"""O-acyltransferase (membrane bound) domain containing 1"""	OACT1		18287005	Standard	NM_001080480		Approved	MGC44669, dJ434O11.1, LPEAT1	uc003ncx.2	Q6ZNC8	OTTHUMG00000014334	ENST00000324607.7:c.147G>C	6.37:g.20152953C>G	ENSP00000324944:p.Trp49Cys		A9EDQ5|B4DL59|B4E3J4|Q86XC2|Q8N9R5	Missense_Mutation	SNP	pfam_MBOAT_fam	p.W49C	ENST00000324607.7	37	c.147	CCDS34346.1	6	.	.	.	.	.	.	.	.	.	.	C	18.68	3.675910	0.67928	.	.	ENSG00000172197	ENST00000324607;ENST00000536798	T;T	0.23552	2.74;1.9	5.37	5.37	0.77165	.	0.111433	0.64402	D	0.000003	T	0.25938	0.0632	M	0.84846	2.72	0.80722	D	1	P	0.38992	0.653	B	0.34652	0.187	T	0.25606	-1.0127	10	0.56958	D	0.05	-9.0E-4	18.2467	0.89988	0.0:1.0:0.0:0.0	.	49	Q6ZNC8	MBOA1_HUMAN	C	49	ENSP00000324944:W49C;ENSP00000439814:W49C	ENSP00000324944:W49C	W	-	3	0	MBOAT1	20260932	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	4.540000	0.60664	2.677000	0.91161	0.655000	0.94253	TGG	MBOAT1	-	NULL	ENSG00000172197		0.448	MBOAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBOAT1	HGNC	protein_coding	OTTHUMT00000039980.1	-	0.00	38	0	C			20152953	-1	tier1	-	no_errors	ENST00000324607	ensembl	human	known	74_37	missense	77.55	11	38	SNP	1.000	G
MBOAT7	79143	genome.wustl.edu	37	19	54692105	54692105	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr19:54692105G>T	ENST00000245615.1	-	3	652	c.172C>A	c.(172-174)Ctc>Atc	p.L58I	TSEN34_ENST00000396388.2_5'Flank|MBOAT7_ENST00000474910.1_5'UTR|TSEN34_ENST00000302937.4_5'Flank|MBOAT7_ENST00000391754.1_Missense_Mutation_p.L58I|TSEN34_ENST00000396383.1_5'Flank|TSEN34_ENST00000429671.2_5'Flank|MBOAT7_ENST00000338624.6_Missense_Mutation_p.P27H|MBOAT7_ENST00000431666.2_Missense_Mutation_p.P27H	NM_024298.3	NP_077274.3	Q96N66	MBOA7_HUMAN	membrane bound O-acyltransferase domain containing 7	58					glycerophospholipid biosynthetic process (GO:0046474)|layer formation in cerebral cortex (GO:0021819)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|ventricular system development (GO:0021591)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipid acyltransferase activity (GO:0071617)			endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CAGGTCCCGAGGATGGTGACC	0.622																																					NSCLC(97;826 2151 10470 22540)												0													57.0	64.0	62.0					19																	54692105		2203	4300	6503	SO:0001583	missense	0			AF211969	CCDS12883.1, CCDS54315.1, CCDS54316.1	19q13.4	2008-12-15	2008-01-17	2008-01-17	ENSG00000125505	ENSG00000125505			15505	protein-coding gene	gene with protein product	"""lysophosphatidylinositol acyltransferase"""	606048	"""leukocyte receptor cluster (LRC) member 4"""	LENG4		10941842, 8702217, 18094042	Standard	NM_024298		Approved	BB1, hMBOA-7, LPIAT	uc002qdr.3	Q96N66	OTTHUMG00000066516	ENST00000245615.1:c.172C>A	19.37:g.54692105G>T	ENSP00000245615:p.Leu58Ile		A9C4B6|B0V3I5|B4DQ87|Q05DF0|Q7L5N2|Q99908|Q9BPV2|Q9BRE9	Missense_Mutation	SNP	pfam_MBOAT_fam	p.L58I	ENST00000245615.1	37	c.172	CCDS12883.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.08|13.08	2.131032|2.131032	0.37630|0.37630	.|.	.|.	ENSG00000125505|ENSG00000125505	ENST00000245615;ENST00000449249;ENST00000391754;ENST00000414665;ENST00000453320|ENST00000431666;ENST00000338624	T;T;T|T;T	0.51325|0.18657	2.07;1.34;0.71|2.2;2.2	4.06|4.06	3.01|3.01	0.34805|0.34805	.|.	0.282463|.	0.26609|.	N|.	0.023422|.	T|T	0.18676|0.18676	0.0448|0.0448	.|.	.|.	.|.	0.24382|0.24382	N|N	0.994785|0.994785	B;B|P	0.29188|0.49447	0.115;0.236|0.924	B;B|B	0.26416|0.42555	0.069;0.056|0.391	T|T	0.06338|0.06338	-1.0832|-1.0832	9|8	0.09590|0.41790	T|T	0.72|0.15	-9.8698|-9.8698	10.0462|10.0462	0.42188|0.42188	0.1057:0.0:0.8943:0.0|0.1057:0.0:0.8943:0.0	.|.	40;58|27	B4DDH8;Q96N66|Q96N66-2	.;MBOA7_HUMAN|.	I|H	58;10;58;58;58|27	ENSP00000245615:L58I;ENSP00000375634:L58I;ENSP00000388250:L58I|ENSP00000410503:P27H;ENSP00000344377:P27H	ENSP00000245615:L58I|ENSP00000344377:P27H	L|P	-|-	1|2	0|0	MBOAT7|MBOAT7	59383917|59383917	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.815000|0.815000	0.46073|0.46073	3.144000|3.144000	0.50616|0.50616	0.815000|0.815000	0.34398|0.34398	0.561000|0.561000	0.74099|0.74099	CTC|CCT	MBOAT7	-	NULL	ENSG00000125505		0.622	MBOAT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBOAT7	HGNC	protein_coding	OTTHUMT00000142203.1	-	0.00	186	0	G	NM_024298		54692105	-1	tier1	-	no_errors	ENST00000245615	ensembl	human	known	74_37	missense	6.45	58	4	SNP	1.000	T
MCF2L2	23101	genome.wustl.edu	37	3	183107506	183107506	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr3:183107506G>T	ENST00000328913.3	-	2	435	c.138C>A	c.(136-138)caC>caA	p.H46Q	MCF2L2_ENST00000414362.2_Missense_Mutation_p.H46Q|MCF2L2_ENST00000447025.2_Missense_Mutation_p.H46Q|MCF2L2_ENST00000473233.1_Missense_Mutation_p.H46Q	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	46	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			CAAATTGTCTGTGAAGTTGTT	0.433																																																	0													130.0	120.0	123.0					3																	183107506		2203	4300	6503	SO:0001583	missense	0			AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"""Rho guanine nucleotide exchange factors"""	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.138C>A	3.37:g.183107506G>T	ENSP00000328118:p.His46Gln		O94942|Q6P2B8|Q6ZVJ5|Q8N318	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.H46Q	ENST00000328913.3	37	c.138	CCDS3243.1	3	.	.	.	.	.	.	.	.	.	.	G	10.43	1.346935	0.24426	.	.	ENSG00000053524	ENST00000328913;ENST00000473233;ENST00000447025;ENST00000414362;ENST00000482017	T;T;T;T;T	0.39406	4.74;4.75;3.86;3.62;1.08	4.79	4.79	0.61399	Cellular retinaldehyde-binding/triple function, C-terminal (2);	0.074985	0.51477	D	0.000085	T	0.37265	0.0997	N	0.11000	0.08	0.35148	D	0.769464	B;B;D	0.62365	0.113;0.041;0.991	B;B;P	0.60886	0.032;0.032;0.88	T	0.42327	-0.9458	10	0.24483	T	0.36	.	10.6248	0.45502	0.091:0.0:0.909:0.0	.	46;46;46	Q86YR7-3;Q86YR7-2;Q86YR7	.;.;MF2L2_HUMAN	Q	46;46;46;46;18	ENSP00000328118:H46Q;ENSP00000420070:H46Q;ENSP00000388190:H46Q;ENSP00000414131:H46Q;ENSP00000417345:H18Q	ENSP00000328118:H46Q	H	-	3	2	MCF2L2	184590200	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.983000	0.49345	2.353000	0.79882	0.557000	0.71058	CAC	MCF2L2	-	superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	ENSG00000053524		0.433	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCF2L2	HGNC	protein_coding	OTTHUMT00000350868.1		0.00	28	0	G	NM_015078		183107506	-1			no_errors	ENST00000328913	ensembl	human	known	74_37	missense	5.26	72	4	SNP	1.000	T
MDC1	9656	genome.wustl.edu	37	6	30671202	30671202	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr6:30671202G>T	ENST00000376406.3	-	11	6322	c.5675C>A	c.(5674-5676)gCc>gAc	p.A1892D	MDC1_ENST00000376405.2_Missense_Mutation_p.A1628D|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1892	BRCT 1. {ECO:0000255|PROSITE- ProRule:PRU00033}.|Required for nuclear localization (NLS2).				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						TACTTTGGGGGCTGTTGATTC	0.527								Other conserved DNA damage response genes																																									0													211.0	226.0	220.0					6																	30671202		1511	2709	4220	SO:0001583	missense	0			D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.5675C>A	6.37:g.30671202G>T	ENSP00000365588:p.Ala1892Asp		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP	pfam_FHA_dom,superfamily_BRCT_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_BRCT_dom,pfscan_FHA_dom	p.A1892D	ENST00000376406.3	37	c.5675	CCDS34384.1	6	.	.	.	.	.	.	.	.	.	.	G	22.6	4.317728	0.81469	.	.	ENSG00000137337	ENST00000376406;ENST00000376405;ENST00000429610;ENST00000422104	T;T	0.02737	4.26;4.18	5.16	-0.0934	0.13649	BRCT (2);	0.868389	0.09584	N	0.782382	T	0.02119	0.0066	L	0.47716	1.5	0.09310	N	1	D;P	0.69078	0.997;0.953	P;P	0.59643	0.861;0.732	T	0.44236	-0.9341	10	0.32370	T	0.25	-2.54	3.9881	0.09525	0.352:0.0:0.4928:0.1553	.	1892;869	Q14676;Q14676-4	MDC1_HUMAN;.	D	1892;1628;1605;1458	ENSP00000365588:A1892D;ENSP00000365587:A1628D	ENSP00000365587:A1628D	A	-	2	0	MDC1	30779181	0.837000	0.29446	0.325000	0.25375	0.706000	0.40770	1.057000	0.30492	0.035000	0.15519	-0.300000	0.09419	GCC	MDC1	-	pfscan_BRCT_dom	ENSG00000137337		0.527	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MDC1	HGNC	protein_coding	OTTHUMT00000076103.1	-	0.00	51	0	G	NM_014641		30671202	-1	tier1	-	no_errors	ENST00000376406	ensembl	human	known	74_37	missense	9.76	37	4	SNP	0.018	T
MDM4	4194	genome.wustl.edu	37	1	204515937	204515937	+	Nonsense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr1:204515937G>T	ENST00000367182.3	+	10	997	c.835G>T	c.(835-837)Gga>Tga	p.G279*	MDM4_ENST00000367183.3_Intron|MDM4_ENST00000391947.2_3'UTR|MDM4_ENST00000507825.2_Intron|MDM4_ENST00000454264.2_Nonsense_Mutation_p.G229*|MDM4_ENST00000463049.1_3'UTR	NM_001204171.1|NM_001278516.1|NM_001278517.1|NM_001278518.1|NM_001278519.1|NM_002393.4	NP_001191100.1|NP_001265445.1|NP_001265446.1|NP_001265447.1|NP_001265448.1|NP_002384.2	O15151	MDM4_HUMAN	MDM4, p53 regulator	279	Asp/Glu-rich (acidic).|Region II.				cell proliferation (GO:0008283)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|G0 to G1 transition (GO:0045023)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)	nucleus (GO:0005634)	enzyme binding (GO:0019899)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00146)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.112)|all_epithelial(62;0.118)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;3.15e-47)|all cancers(3;3.56e-32)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|Epithelial(59;0.143)|BRCA - Breast invasive adenocarcinoma(75;0.143)			GATTGAAGTGGGAAAAAATGA	0.368			A		"""GBM, bladder, retinoblastoma"""																																			Dom	yes		1	1q32	4194	Mdm4 p53 binding protein homolog		M	0													122.0	117.0	119.0					1																	204515937		2203	4300	6503	SO:0001587	stop_gained	0			AF007111	CCDS1447.1, CCDS55674.1, CCDS55675.1, CCDS60396.1, CCDS73007.1, CCDS73008.1, CCDS73009.1	1q32	2014-03-03	2014-03-03		ENSG00000198625	ENSG00000198625			6974	protein-coding gene	gene with protein product		602704	"""mouse double minute 4, human homolog of; p53-binding protein"", ""Mdm4, transformed 3T3 cell double minute 4, p53 binding protein (mouse)"", ""Mdm4 p53 binding protein homolog (mouse)"""			9226370, 14660608	Standard	NM_002393		Approved	MDMX, HDMX	uc001hba.3	O15151	OTTHUMG00000035877	ENST00000367182.3:c.835G>T	1.37:g.204515937G>T	ENSP00000356150:p.Gly279*		Q2M2Y2|Q32SL2|Q6GS18|Q8IV83	Nonsense_Mutation	SNP	pfam_SWIB_MDM2_domain,superfamily_SWIB_MDM2_domain,pirsf_p53_neg-reg_MDM_2/4,pfscan_Znf_RanBP2,pfscan_Znf_RING	p.G279*	ENST00000367182.3	37	c.835	CCDS1447.1	1	.	.	.	.	.	.	.	.	.	.	G	10.80	1.453331	0.26161	.	.	ENSG00000198625	ENST00000367182;ENST00000454264;ENST00000367179;ENST00000444261	.	.	.	5.7	2.23	0.28157	.	0.862635	0.10953	N	0.615875	.	.	.	.	.	.	0.31301	N	0.688275	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	-0.0713	4.8408	0.13489	0.25:0.0:0.588:0.1619	.	.	.	.	X	279;229;164;57	.	ENSP00000356147:G164X	G	+	1	0	MDM4	202782560	0.371000	0.25056	0.114000	0.21550	0.043000	0.13939	0.656000	0.24948	0.824000	0.34613	0.650000	0.86243	GGA	MDM4	-	pirsf_p53_neg-reg_MDM_2/4	ENSG00000198625		0.368	MDM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MDM4	HGNC	protein_coding	OTTHUMT00000087415.2		0.00	17	0	G	NM_002393		204515937	+1			no_errors	ENST00000367182	ensembl	human	known	74_37	nonsense	9.52	38	4	SNP	0.298	T
MECP2	4204	genome.wustl.edu	37	X	153295922	153295922	+	Silent	SNP	G	G	T	rs267608625|rs61753979		TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chrX:153295922G>T	ENST00000303391.6	-	4	1606	c.1357C>A	c.(1357-1359)Cga>Aga	p.R453R	MECP2_ENST00000453960.2_Silent_p.R465R|MECP2_ENST00000460227.1_5'Flank	NM_004992.3	NP_004983.1	P51608	MECP2_HUMAN	methyl CpG binding protein 2	453			R -> Q (in MRXS13). {ECO:0000269|PubMed:11309367}.		adult locomotory behavior (GO:0008344)|behavioral fear response (GO:0001662)|cardiolipin metabolic process (GO:0032048)|catecholamine secretion (GO:0050432)|cerebellum development (GO:0021549)|chromatin silencing (GO:0006342)|dendrite development (GO:0016358)|glucocorticoid metabolic process (GO:0008211)|glutamine metabolic process (GO:0006541)|histone acetylation (GO:0016573)|histone methylation (GO:0016571)|inositol metabolic process (GO:0006020)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone methylation (GO:0031061)|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)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron maturation (GO:0042551)|pathogenesis (GO:0009405)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of cell proliferation (GO:0008284)|positive regulation of synapse assembly (GO:0051965)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|proprioception (GO:0019230)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|sensory perception of pain (GO:0019233)|social behavior (GO:0035176)|startle response (GO:0001964)|synapse assembly (GO:0007416)|transcription, DNA-templated (GO:0006351)|ventricular system development (GO:0021591)|visual learning (GO:0008542)	cytosol (GO:0005829)|extracellular space (GO:0005615)|heterochromatin (GO:0000792)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded methylated DNA binding (GO:0010385)|methyl-CpG binding (GO:0008327)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|siRNA binding (GO:0035197)|transcription corepressor activity (GO:0003714)			breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCTCCCCTCGGTGTTTGTAC	0.622																																																	0			GRCh37	CM023420	MECP2	M	rs61753979						242.0	216.0	225.0					X																	153295922		2203	4300	6503	SO:0001819	synonymous_variant	0			AF158180	CCDS14741.1, CCDS48193.1	Xq28	2014-09-17	2014-06-18		ENSG00000169057	ENSG00000169057			6990	protein-coding gene	gene with protein product		300005	"""mental retardation, X-linked 16"", ""mental retardation, X-linked 79"", ""Rett syndrome"", ""methyl CpG binding protein 2 (Rett syndrome)"""	RTT, MRX16, MRX79		1606614, 10508514	Standard	NM_004992		Approved		uc004fjw.2	P51608	OTTHUMG00000024229	ENST00000303391.6:c.1357C>A	X.37:g.153295922G>T			O15233|Q6QHH9|Q7Z384	Silent	SNP	pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,superfamily_Ig_E-set,smart_Methyl_CpG_DNA-bd,pirsf_Me_CpG-bd_MeCP2,pfscan_Methyl_CpG_DNA-bd	p.R453	ENST00000303391.6	37	c.1357	CCDS14741.1	X																																																																																			MECP2	-	pirsf_Me_CpG-bd_MeCP2	ENSG00000169057		0.622	MECP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MECP2	HGNC	protein_coding	OTTHUMT00000061144.1		0.00	37	0	G	NM_004992		153295922	-1			no_errors	ENST00000303391	ensembl	human	known	74_37	silent	7.41	50	4	SNP	1.000	T
MEIOB	254528	genome.wustl.edu	37	16	1904192	1904192	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr16:1904192G>T	ENST00000397344.3	-	7	732	c.538C>A	c.(538-540)Cca>Aca	p.P180T	MEIOB_ENST00000325962.3_Missense_Mutation_p.P180T|MEIOB_ENST00000452149.2_Missense_Mutation_p.P180T|MEIOB_ENST00000470044.1_5'UTR|MEIOB_ENST00000412554.2_Missense_Mutation_p.P180T	NM_152764.2	NP_689977.2	Q8N635	MEIOB_HUMAN	meiosis specific with OB domains	180					double-strand break repair via homologous recombination (GO:0000724)|female meiosis I (GO:0007144)|fertilization (GO:0009566)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|resolution of meiotic recombination intermediates (GO:0000712)|synapsis (GO:0007129)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|single-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008310)|single-stranded DNA binding (GO:0003697)										AAGTATTTTGGCTCTCCAACC	0.358																																																	0													144.0	118.0	126.0					16																	1904192		692	1591	2283	SO:0001583	missense	0			BC029829	CCDS10449.2, CCDS53983.1	16p13.3	2012-08-13	2012-08-13	2012-08-13	ENSG00000162039	ENSG00000162039			28569	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 73"""	C16orf73		12477932	Standard	NM_152764		Approved	MGC35212	uc010uvq.1	Q8N635	OTTHUMG00000128683	ENST00000397344.3:c.538C>A	16.37:g.1904192G>T	ENSP00000380504:p.Pro180Thr		B1AK39|C9J0S1|Q96RY0	Missense_Mutation	SNP	superfamily_NA-bd_OB-fold	p.P180T	ENST00000397344.3	37	c.538	CCDS10449.2	16	.	.	.	.	.	.	.	.	.	.	G	6.343	0.431448	0.12045	.	.	ENSG00000162039	ENST00000412554;ENST00000452149;ENST00000325962;ENST00000397344	T;T;T;T	0.17370	2.28;2.28;2.28;2.28	5.38	4.4	0.53042	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.447853	0.19223	U	0.119637	T	0.12860	0.0312	L	0.46157	1.445	0.51233	D	0.999919	B;B	0.29988	0.001;0.264	B;B	0.21151	0.004;0.033	T	0.02639	-1.1130	10	0.05620	T	0.96	.	12.7754	0.57443	0.0:0.0:0.8362:0.1638	.	180;180	C9J0S1;Q8N635	.;CP073_HUMAN	T	180	ENSP00000390778:P180T;ENSP00000391033:P180T;ENSP00000314484:P180T;ENSP00000380504:P180T	ENSP00000314484:P180T	P	-	1	0	C16orf73	1844193	0.986000	0.35501	0.992000	0.48379	0.992000	0.81027	1.603000	0.36794	1.219000	0.43474	0.563000	0.77884	CCA	MEIOB	-	superfamily_NA-bd_OB-fold	ENSG00000162039		0.358	MEIOB-001	KNOWN	basic|CCDS	protein_coding	MEIOB	HGNC	protein_coding	OTTHUMT00000250580.1		0.00	22	0	G	NM_152764		1904192	-1			no_errors	ENST00000325962	ensembl	human	known	74_37	missense	5.41	70	4	SNP	0.995	T
MIF4GD	57409	genome.wustl.edu	37	17	73265466	73265466	+	Intron	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr17:73265466G>T	ENST00000325102.8	-	2	207				MIF4GD_ENST00000579119.1_Intron|RP11-649A18.12_ENST00000582668.1_RNA|MIF4GD_ENST00000578305.1_Intron|RP11-649A18.12_ENST00000585075.1_RNA|MIF4GD_ENST00000579297.1_Missense_Mutation_p.S56Y|MIF4GD_ENST00000245551.5_Missense_Mutation_p.S49Y|MIF4GD_ENST00000580571.1_Intron|MIF4GD_ENST00000577542.1_Missense_Mutation_p.S56Y	NM_001242501.1	NP_001229430.1	A9UHW6	MI4GD_HUMAN	MIF4G domain containing						regulation of translation (GO:0006417)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			breast(2)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	10	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)			CATCAGGCGAGAGCAATTACT	0.493																																																	0													152.0	138.0	143.0					17																	73265466		2203	4300	6503	SO:0001627	intron_variant	0			CR605810	CCDS11719.1, CCDS56044.1, CCDS58598.1	17q25.1	2005-12-15		2005-12-15					24030	protein-coding gene	gene with protein product		612072		MIFD			Standard	NM_001242498		Approved	AD023, MGC45027	uc002jnq.3	A9UHW6		ENST00000325102.8:c.82+728C>A	17.37:g.73265466G>T			B4DUM7|Q8N4Q5|Q9HBL5	Missense_Mutation	SNP	pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold	p.S56Y	ENST00000325102.8	37	c.167	CCDS56044.1	17	.	.	.	.	.	.	.	.	.	.	G	6.702	0.498101	0.12762	.	.	ENSG00000125457	ENST00000245551	.	.	.	2.01	0.982	0.19762	.	.	.	.	.	T	0.17789	0.0427	N	0.08118	0	0.09310	N	1	B;B	0.13594	0.007;0.008	B;B	0.04013	0.0;0.001	T	0.20174	-1.0283	8	0.62326	D	0.03	.	6.3497	0.21369	0.0:0.312:0.688:0.0	.	49;56	A9UHW6-2;B4DUM7	.;.	Y	49	.	ENSP00000245551:S49Y	S	-	2	0	MIF4GD	70777061	0.021000	0.18746	0.020000	0.16555	0.021000	0.10359	1.218000	0.32467	0.394000	0.25230	0.455000	0.32223	TCT	MIF4GD	-	superfamily_ARM-type_fold	ENSG00000125457		0.493	MIF4GD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MIF4GD	HGNC	protein_coding	OTTHUMT00000446671.1		0.00	15	0	G	NM_020679		73265466	-1			no_errors	ENST00000577542	ensembl	human	known	74_37	missense	11.54	23	3	SNP	0.023	T
MKL2	57496	genome.wustl.edu	37	16	14234591	14234592	+	Frame_Shift_Ins	INS	-	-	A			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr16:14234591_14234592insA	ENST00000574045.1	+	3	283_284	c.128_129insA	c.(127-132)ttacccfs	p.P44fs	MKL2_ENST00000571589.1_Frame_Shift_Ins_p.P44fs|MKL2_ENST00000575537.1_3'UTR|MKL2_ENST00000318282.5_Frame_Shift_Ins_p.P44fs			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	0					blood vessel morphogenesis (GO:0048514)|cardiac muscle tissue development (GO:0048738)|embryonic organ development (GO:0048568)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|muscle organ development (GO:0007517)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGTCAAAACTTACCCCCTCTGA	0.465																																																	0																																										SO:0001589	frameshift_variant	0			AB033069	CCDS32391.1	16p13.12	2012-11-29			ENSG00000186260	ENSG00000186260			29819	protein-coding gene	gene with protein product		609463				10574462	Standard	NM_014048		Approved	MRTF-B, FLJ31823	uc002dcg.3	Q9ULH7	OTTHUMG00000177379	ENST00000574045.1:c.129dupA	16.37:g.14234592_14234592dupA	ENSP00000459205:p.Pro44fs		A6ND53|B4DGT8|Q68CT1|Q6UB16|Q86WW2|Q8N226	Frame_Shift_Ins	INS	pfam_RPEL_repeat,pfam_SAP_dom,smart_RPEL_repeat,smart_SAP_dom,pfscan_RPEL_repeat,pfscan_SAP_dom	p.P44fs	ENST00000574045.1	37	c.128_129	CCDS32391.1	16																																																																																			MKL2	-	NULL	ENSG00000186260		0.465	MKL2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	MKL2	HGNC	protein_coding	OTTHUMT00000436622.1		0.00	41	0	-	NM_014048		14234592	+1	tier1		no_errors	ENST00000318282	ensembl	human	known	74_37	frame_shift_ins	40.82	29	20	INS	0.954:0.947	A
MLLT3	4300	genome.wustl.edu	37	9	20413890	20413890	+	Silent	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr9:20413890G>T	ENST00000380338.4	-	5	1240	c.954C>A	c.(952-954)ctC>ctA	p.L318L	MLLT3_ENST00000355930.6_5'UTR|MIR4473_ENST00000583731.1_RNA|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.L315L	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	318					anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		CAGAACAAGTGAGTATCAGTG	0.373			T	MLL	ALL																																			Dom	yes		9	9p22	4300	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""		L	0													123.0	123.0	123.0					9																	20413890		2203	4300	6503	SO:0001819	synonymous_variant	0			L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.954C>A	9.37:g.20413890G>T			B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	pfam_YEATS,pfscan_YEATS	p.L318	ENST00000380338.4	37	c.954	CCDS6494.1	9																																																																																			MLLT3	-	NULL	ENSG00000171843		0.373	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MLLT3	HGNC	protein_coding	OTTHUMT00000051872.1	-	0.00	33	0	G	NM_004529		20413890	-1	tier1	-	no_errors	ENST00000380338	ensembl	human	known	74_37	silent	6.02	78	5	SNP	1.000	T
MR1	3140	genome.wustl.edu	37	1	181021634	181021634	+	Missense_Mutation	SNP	C	C	A			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr1:181021634C>A	ENST00000367580.5	+	4	873	c.868C>A	c.(868-870)Cag>Aag	p.Q290K	MR1_ENST00000438435.2_Intron|MR1_ENST00000282990.6_Intron|MR1_ENST00000434571.2_Intron|MR1_ENST00000367579.3_Missense_Mutation_p.Q245K	NM_001531.2	NP_001522.1	Q95460	HMR1_HUMAN	major histocompatibility complex, class I-related	290	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	MHC class I receptor activity (GO:0032393)|peptide antigen binding (GO:0042605)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	18					Antithymocyte globulin(DB00098)	CATGGTTCTTCAGGTCCCCCA	0.577																																					Colon(174;1412 1962 45296 46549 47110)												0													48.0	52.0	51.0					1																	181021634		2203	4300	6503	SO:0001583	missense	0			AF010446	CCDS1342.1, CCDS53440.1, CCDS53441.1, CCDS53442.1	1q25.3	2013-01-11	2003-03-05	2003-03-07	ENSG00000153029	ENSG00000153029		"""Immunoglobulin superfamily / C1-set domain containing"""	4975	protein-coding gene	gene with protein product		600764	"""major histocompatibility complex, class I-like sequence"""	HLALS		7624800, 9784382	Standard	NM_001194999		Approved		uc001goq.2	Q95460	OTTHUMG00000035175	ENST00000367580.5:c.868C>A	1.37:g.181021634C>A	ENSP00000356552:p.Gln290Lys		A8K2V9|B4E3B1|O97985|O97986|Q53GM1|Q95HB8|Q9MY23|Q9NPL2|Q9TQB3|Q9TQB9|Q9TQK3	Missense_Mutation	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a	p.Q290K	ENST00000367580.5	37	c.868	CCDS1342.1	1	.	.	.	.	.	.	.	.	.	.	C	1.626	-0.520116	0.04171	.	.	ENSG00000153029	ENST00000367580;ENST00000367579	T;T	0.00922	6.01;5.54	4.37	2.44	0.29823	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.399456	0.21610	N	0.071801	T	0.00845	0.0028	N	0.20685	0.6	0.80722	D	1	B;B	0.29481	0.206;0.245	B;B	0.31946	0.085;0.138	T	0.66268	-0.5966	10	0.87932	D	0	.	5.7241	0.18002	0.0:0.6823:0.2082:0.1095	.	245;290	Q95460-2;Q95460	.;HMR1_HUMAN	K	290;245	ENSP00000356552:Q290K;ENSP00000356551:Q245K	ENSP00000356551:Q245K	Q	+	1	0	MR1	179288257	0.000000	0.05858	0.757000	0.31301	0.443000	0.32047	0.220000	0.17660	0.451000	0.26802	0.655000	0.94253	CAG	MR1	-	pfscan_Ig-like_dom	ENSG00000153029		0.577	MR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MR1	HGNC	protein_coding	OTTHUMT00000085134.2		0.00	27	0	C	NM_001531		181021634	+1			no_errors	ENST00000367580	ensembl	human	known	74_37	missense	6.25	30	2	SNP	0.965	A
MTMR6	9107	genome.wustl.edu	37	13	25825857	25825857	+	Missense_Mutation	SNP	A	A	G			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr13:25825857A>G	ENST00000381801.5	-	13	2296	c.1535T>C	c.(1534-1536)gTa>gCa	p.V512A	MTMR6_ENST00000540661.1_Missense_Mutation_p.V512A	NM_004685.3	NP_004676.3	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	512					peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|potassium ion transmembrane transport (GO:0071805)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	calcium-activated potassium channel activity (GO:0015269)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3)	36		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		TATATTAAATACAGACTGCCT	0.274																																																	0													36.0	37.0	37.0					13																	25825857		2199	4293	6492	SO:0001583	missense	0			AF072928	CCDS9313.1	13q12	2011-06-09			ENSG00000139505	ENSG00000139505		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7453	protein-coding gene	gene with protein product		603561				9736772	Standard	NM_004685		Approved		uc001uqf.4	Q9Y217	OTTHUMG00000016606	ENST00000381801.5:c.1535T>C	13.37:g.25825857A>G	ENSP00000371221:p.Val512Ala		B2RBB5|B3KSB4|Q5JRG6|Q86TB7|Q86YH4|Q96P80	Missense_Mutation	SNP	pfam_Myotubularin-like_Pase_dom,smart_Tyr_Pase_cat	p.V512A	ENST00000381801.5	37	c.1535	CCDS9313.1	13	.	.	.	.	.	.	.	.	.	.	A	15.74	2.921354	0.52653	.	.	ENSG00000139505	ENST00000540661;ENST00000541021;ENST00000381801;ENST00000319298	D;D	0.94184	-3.34;-3.37	5.57	5.57	0.84162	.	0.514577	0.21960	N	0.066615	D	0.92909	0.7744	M	0.74389	2.26	0.40088	D	0.97621	B;B	0.14012	0.005;0.009	B;B	0.17433	0.018;0.013	D	0.90706	0.4624	10	0.51188	T	0.08	.	15.7202	0.77705	1.0:0.0:0.0:0.0	.	512;512	Q9Y217;Q9Y217-2	MTMR6_HUMAN;.	A	512;512;512;80	ENSP00000443161:V512A;ENSP00000371221:V512A	ENSP00000317987:V80A	V	-	2	0	MTMR6	24723857	0.872000	0.30054	0.326000	0.25389	0.975000	0.68041	7.010000	0.76353	2.119000	0.64992	0.477000	0.44152	GTA	MTMR6	-	NULL	ENSG00000139505		0.274	MTMR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTMR6	HGNC	protein_coding	OTTHUMT00000044225.1	-	0.00	22	0	A	NM_004685		25825857	-1	tier1	-	no_errors	ENST00000381801	ensembl	human	known	74_37	missense	50.00	34	34	SNP	0.664	G
MTMR6	9107	genome.wustl.edu	37	13	25832791	25832791	+	Nonsense_Mutation	SNP	C	C	A			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr13:25832791C>A	ENST00000381801.5	-	7	1527	c.766G>T	c.(766-768)Gaa>Taa	p.E256*	MTMR6_ENST00000540661.1_Nonsense_Mutation_p.E256*|MTMR6_ENST00000482345.1_5'UTR	NM_004685.3	NP_004676.3	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	256	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|potassium ion transmembrane transport (GO:0071805)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	calcium-activated potassium channel activity (GO:0015269)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3)	36		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		TCTTCATTTTCATAACCTTTT	0.299																																																	0													70.0	66.0	67.0					13																	25832791		2202	4296	6498	SO:0001587	stop_gained	0			AF072928	CCDS9313.1	13q12	2011-06-09			ENSG00000139505	ENSG00000139505		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7453	protein-coding gene	gene with protein product		603561				9736772	Standard	NM_004685		Approved		uc001uqf.4	Q9Y217	OTTHUMG00000016606	ENST00000381801.5:c.766G>T	13.37:g.25832791C>A	ENSP00000371221:p.Glu256*		B2RBB5|B3KSB4|Q5JRG6|Q86TB7|Q86YH4|Q96P80	Nonsense_Mutation	SNP	pfam_Myotubularin-like_Pase_dom,smart_Tyr_Pase_cat	p.E256*	ENST00000381801.5	37	c.766	CCDS9313.1	13	.	.	.	.	.	.	.	.	.	.	C	38	6.988801	0.97987	.	.	ENSG00000139505	ENST00000540661;ENST00000541021;ENST00000381801	.	.	.	5.47	4.63	0.57726	.	0.045719	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.3431	0.66641	0.0:0.9286:0.0:0.0714	.	.	.	.	X	256	.	ENSP00000371221:E256X	E	-	1	0	MTMR6	24730791	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.770000	0.85390	1.303000	0.44873	0.563000	0.77884	GAA	MTMR6	-	pfam_Myotubularin-like_Pase_dom	ENSG00000139505		0.299	MTMR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTMR6	HGNC	protein_coding	OTTHUMT00000044225.1		0.00	24	0	C	NM_004685		25832791	-1			no_errors	ENST00000381801	ensembl	human	known	74_37	nonsense	6.67	70	5	SNP	1.000	A
MTOR	2475	genome.wustl.edu	37	1	11269374	11269374	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr1:11269374G>T	ENST00000361445.4	-	25	3872	c.3796C>A	c.(3796-3798)Caa>Aaa	p.Q1266K		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1266					cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	CTTGCCTTTTGGAGGTTGATG	0.488																																																	0													201.0	176.0	185.0					1																	11269374		2203	4300	6503	SO:0001583	missense	0			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.3796C>A	1.37:g.11269374G>T	ENSP00000354558:p.Gln1266Lys		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.Q1266K	ENST00000361445.4	37	c.3796	CCDS127.1	1	.	.	.	.	.	.	.	.	.	.	G	1.817	-0.473188	0.04445	.	.	ENSG00000198793	ENST00000361445;ENST00000539766	T	0.06142	3.34	5.78	4.87	0.63330	Armadillo-like helical (1);Armadillo-type fold (1);	0.061505	0.64402	D	0.000003	T	0.04003	0.0112	N	0.13098	0.295	0.80722	D	1	B	0.16603	0.018	B	0.14578	0.011	T	0.17837	-1.0356	10	0.02654	T	1	-12.8972	14.858	0.70355	0.0689:0.0:0.9311:0.0	.	1266	P42345	MTOR_HUMAN	K	1266	ENSP00000354558:Q1266K	ENSP00000354558:Q1266K	Q	-	1	0	MTOR	11191961	1.000000	0.71417	1.000000	0.80357	0.229000	0.25112	9.434000	0.97515	1.453000	0.47775	-0.258000	0.10820	CAA	MTOR	-	superfamily_ARM-type_fold	ENSG00000198793		0.488	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTOR	HGNC	protein_coding	OTTHUMT00000005558.1	-	0.00	28	0	G	NM_004958		11269374	-1	tier1	-	no_errors	ENST00000361445	ensembl	human	known	74_37	missense	7.41	50	4	SNP	1.000	T
MUC12	10071	genome.wustl.edu	37	7	100646172	100646172	+	Missense_Mutation	SNP	C	C	A	rs201474600		TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr7:100646172C>A	ENST00000379442.3	+	5	12757	c.12757C>A	c.(12757-12759)Cgc>Agc	p.R4253S	MUC12_ENST00000536621.1_Missense_Mutation_p.R4110S			Q9UKN1	MUC12_HUMAN	mucin 12, cell surface associated	4253	28 X 19 AA approximate tandem repeats of E-E-S-X-X-X-H-X-X-P-X-X-T-X-T-X-X-X-P.|Ser-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|regulation of cell growth (GO:0001558)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)				breast(6)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)|stomach(13)	25						CTACCACAGCCGCCCGAGCTC	0.542																																																	0													16.0	18.0	18.0					7																	100646172		523	1086	1609	SO:0001583	missense	0			AF147790, AF147791	CCDS55139.1	7q22	2007-01-17	2006-03-14		ENSG00000205277	ENSG00000205277		"""Mucins"""	7510	protein-coding gene	gene with protein product		604609	"""mucin 11"""	MUC11		10463611	Standard	NM_001164462		Approved		uc003uxo.3	Q9UKN1	OTTHUMG00000157042	ENST00000379442.3:c.12757C>A	7.37:g.100646172C>A	ENSP00000368755:p.Arg4253Ser		A6ND38|F5GWV9|Q9UKN0	Missense_Mutation	SNP	pfam_SEA_dom	p.R4110S	ENST00000379442.3	37	c.12328		7	.	.	.	.	.	.	.	.	.	.	c	0.335	-0.953572	0.02285	.	.	ENSG00000205277	ENST00000379442;ENST00000536621	T;T	0.13307	2.61;2.6	0.53	-1.06	0.10002	.	.	.	.	.	T	0.04497	0.0123	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.41698	-0.9494	7	0.02654	T	1	.	4.4947	0.11831	0.6584:0.3416:0.0:0.0	.	.	.	.	S	4253;4110	ENSP00000368755:R4253S;ENSP00000441929:R4110S	ENSP00000368755:R4253S	R	+	1	0	MUC12	100432892	0.115000	0.22152	0.002000	0.10522	0.002000	0.02628	-0.032000	0.12266	-0.706000	0.05028	-1.206000	0.01644	CGC	MUC12	-	NULL	ENSG00000205277		0.542	MUC12-001	NOVEL	basic|appris_candidate_longest	protein_coding	MUC12	HGNC	protein_coding	OTTHUMT00000347234.1	-	0.00	103	0	C	XM_379904		100646172	+1	tier1	-	no_errors	ENST00000536621	ensembl	human	known	74_37	missense	50.00	15	15	SNP	0.022	A
MUC19	283463	genome.wustl.edu	37	12	40834620	40834620	+	Silent	SNP	T	T	G			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr12:40834620T>G	ENST00000454784.4	+	23	2596	c.1863T>G	c.(1861-1863)gtT>gtG	p.V621V	RP11-115F18.1_ENST00000552757.1_RNA			Q7Z5P9	MUC19_HUMAN	mucin 19, oligomeric	621					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				lung(2)	2						ACATACCTGTTTTTGATGTAA	0.378																																																	0																																										SO:0001819	synonymous_variant	0			AY236870		12q12	2012-04-20	2006-03-14		ENSG00000205592	ENSG00000205592		"""Mucins"""	14362	protein-coding gene	gene with protein product		612170				12882755	Standard	NM_173600		Approved	FLJ35746	uc021qxa.1	Q7Z5P9	OTTHUMG00000060732	ENST00000454784.4:c.1863T>G	12.37:g.40834620T>G			Q8NA85	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich	p.V621	ENST00000454784.4	37	c.1863		12																																																																																			MUC19	-	pfam_TIL_dom,superfamily_TIL_dom	ENSG00000205592		0.378	MUC19-001	NOVEL	non_canonical_conserved|non_canonical_genome_sequence_error|basic|appris_principal	protein_coding	MUC19	HGNC	protein_coding	OTTHUMT00000384257.6	-	0.00	16	0	T	XM_003403524		40834620	+1	tier1	-	no_errors	ENST00000454784	ensembl	human	novel	74_37	silent	41.18	30	21	SNP	0.206	G
MUT	4594	genome.wustl.edu	37	6	49425720	49425720	+	Missense_Mutation	SNP	T	T	C	rs528689712		TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr6:49425720T>C	ENST00000274813.3	-	3	564	c.437A>G	c.(436-438)tAt>tGt	p.Y146C		NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase	146					cellular lipid metabolic process (GO:0044255)|cobalamin metabolic process (GO:0009235)|fatty acid beta-oxidation (GO:0006635)|homocysteine metabolic process (GO:0050667)|post-embryonic development (GO:0009791)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	cobalamin binding (GO:0031419)|metal ion binding (GO:0046872)|methylmalonyl-CoA mutase activity (GO:0004494)|modified amino acid binding (GO:0072341)			endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GTCTGAATCATAGCCACGATG	0.398													T|||	1	0.000199681	0.0	0.0	5008	,	,		18993	0.001		0.0	False		,,,				2504	0.0																0													68.0	70.0	69.0					6																	49425720		2203	4300	6503	SO:0001583	missense	0				CCDS4924.1	6p21	2012-10-02	2010-04-30		ENSG00000146085	ENSG00000146085	5.4.99.2		7526	protein-coding gene	gene with protein product		609058	"""methylmalonyl Coenzyme A mutase"""			2907507, 9503014	Standard	NM_000255		Approved		uc003ozg.4	P22033	OTTHUMG00000014814	ENST00000274813.3:c.437A>G	6.37:g.49425720T>C	ENSP00000274813:p.Tyr146Cys		A8K953|Q5SYZ3|Q96B11|Q9UD64	Missense_Mutation	SNP	pfam_MeMalonylCoA_mutase_a/b_cat,pfam_Cobalamin-bd,superfamily_Cbl-dep_enz_cat,superfamily_Cobalamin-bd,tigrfam_MMCoA_mutase_a_cat,tigrfam_Acid_CoA_mut_C	p.Y146C	ENST00000274813.3	37	c.437	CCDS4924.1	6	.	.	.	.	.	.	.	.	.	.	T	21.7	4.186192	0.78789	.	.	ENSG00000146085	ENST00000274813	D	0.98633	-5.04	5.55	5.55	0.83447	Cobalamin (vitamin B12)-dependent enzyme, catalytic (1);Cobalamin (vitamin B12)-dependent enzyme, catalytic subdomain (1);Methylmalonyl-CoA mutase, alpha/beta chain, catalytic (1);Methylmalonyl-CoA mutase, alpha chain, catalytic (1);	0.000000	0.85682	D	0.000000	D	0.99363	0.9776	H	0.94658	3.565	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98730	1.0712	10	0.87932	D	0	-23.2559	15.1583	0.72761	0.0:0.0:0.0:1.0	.	146	P22033	MUTA_HUMAN	C	146	ENSP00000274813:Y146C	ENSP00000274813:Y146C	Y	-	2	0	MUT	49533679	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.606000	0.82863	2.235000	0.73313	0.402000	0.26972	TAT	MUT	-	pfam_MeMalonylCoA_mutase_a/b_cat,superfamily_Cbl-dep_enz_cat,tigrfam_MMCoA_mutase_a_cat	ENSG00000146085		0.398	MUT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUT	HGNC	protein_coding	OTTHUMT00000040854.1	-	0.00	24	0	T			49425720	-1	tier1	-	no_errors	ENST00000274813	ensembl	human	known	74_37	missense	27.91	31	12	SNP	1.000	C
MYC	4609	genome.wustl.edu	37	8	128750895	128750895	+	Silent	SNP	C	C	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr8:128750895C>T	ENST00000259523.6	+	2	1592	c.387C>T	c.(385-387)atC>atT	p.I129I	MYC_ENST00000377970.2_Silent_p.I144I|MYC_ENST00000524013.1_Silent_p.I143I			P01106	MYC_HUMAN	v-myc avian myelocytomatosis viral oncogene homolog	129					branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular iron ion homeostasis (GO:0006879)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|chromosome organization (GO:0051276)|energy reserve metabolic process (GO:0006112)|fibroblast apoptotic process (GO:0044346)|gene expression (GO:0010467)|MAPK cascade (GO:0000165)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell division (GO:0051782)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|oxygen transport (GO:0015671)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of metanephric cap mesenchymal cell proliferation (GO:0090096)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of telomere maintenance (GO:0032204)|response to drug (GO:0042493)|response to gamma radiation (GO:0010332)|response to growth factor (GO:0070848)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein complex binding (GO:0032403)|repressing transcription factor binding (GO:0070491)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)	Nadroparin(DB08813)	AAAACATCATCATCCAGGACT	0.602		3	"""A, T"""	"""IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"""	"""Burkitt lymphoma,  amplified in other cancers, B-CLL"""						OREG0018982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																												Dom	yes		8	8q24.12-q24.13	4609	v-myc myelocytomatosis viral oncogene homolog (avian)		"""L, E"""	0													62.0	64.0	64.0					8																	128750895		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS6359.2	8q24	2013-07-09	2013-07-09		ENSG00000136997	ENSG00000136997		"""Basic helix-loop-helix proteins"""	7553	protein-coding gene	gene with protein product		190080					Standard	NM_002467		Approved	c-Myc, bHLHe39, MYCC	uc003ysi.3	P01106	OTTHUMG00000128475	ENST00000259523.6:c.387C>T	8.37:g.128750895C>T		1567	A8WFE7|P01107|Q14026	Silent	SNP	pfam_Tscrpt_reg_Myc_N,pfam_Myc-LZ,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom,prints_Tscrpt_reg_Myc	p.I144	ENST00000259523.6	37	c.432		8																																																																																			MYC	-	pfam_Tscrpt_reg_Myc_N,prints_Tscrpt_reg_Myc	ENSG00000136997		0.602	MYC-002	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	MYC	HGNC	protein_coding	OTTHUMT00000250278.1	-	0.00	68	0	C			128750895	+1	tier1	-	no_errors	ENST00000377970	ensembl	human	known	74_37	silent	8.33	154	14	SNP	1.000	T
MYL1	4632	genome.wustl.edu	37	2	211158470	211158470	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr2:211158470G>T	ENST00000352451.3	-	5	680	c.533C>A	c.(532-534)tCc>tAc	p.S178Y	MYL1_ENST00000341685.4_Missense_Mutation_p.S134Y|MYL1_ENST00000496436.1_5'UTR	NM_079420.2	NP_524144.1	P05976	MYL1_HUMAN	myosin, light chain 1, alkali; skeletal, fast	178	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cardiac muscle contraction (GO:0060048)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|sarcomere (GO:0030017)	calcium ion binding (GO:0005509)|structural constituent of muscle (GO:0008307)	p.S178Y(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	16				Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057)		GCAGCCATTGGAGTCTTCTTG	0.428																																																	1	Substitution - Missense(1)	lung(1)											233.0	213.0	220.0					2																	211158470		2203	4300	6503	SO:0001583	missense	0				CCDS2390.1, CCDS2391.1	2q33-q34	2013-01-10	2006-09-29		ENSG00000168530	ENSG00000168530		"""Myosins / Light chain"", ""EF-hand domain containing"""	7582	protein-coding gene	gene with protein product		160780	"""myosin, light polypeptide 1, alkali; skeletal, fast"""			2304459, 3422212	Standard	NM_079422		Approved		uc002vec.3	P05976	OTTHUMG00000132992	ENST00000352451.3:c.533C>A	2.37:g.211158470G>T	ENSP00000307280:p.Ser178Tyr		B2R4N6|B2R4T6|P06741|Q6IBD5	Missense_Mutation	SNP	smart_EF_hand_dom,pfscan_EF_hand_dom	p.S178Y	ENST00000352451.3	37	c.533	CCDS2390.1	2	.	.	.	.	.	.	.	.	.	.	G	21.9	4.223405	0.79464	.	.	ENSG00000168530	ENST00000341685;ENST00000352451	T;T	0.80480	-1.38;-1.38	5.91	5.91	0.95273	EF-hand-like domain (1);	0.102064	0.64402	D	0.000001	D	0.91106	0.7200	M	0.87328	2.875	0.51767	D	0.999939	D;D	0.61697	0.99;0.984	D;D	0.64506	0.926;0.917	D	0.91680	0.5357	10	0.87932	D	0	.	20.2983	0.98569	0.0:0.0:1.0:0.0	.	178;134	P05976;P05976-2	MYL1_HUMAN;.	Y	134;178	ENSP00000343321:S134Y;ENSP00000307280:S178Y	ENSP00000343321:S134Y	S	-	2	0	MYL1	210866715	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.836000	0.55813	2.802000	0.96397	0.655000	0.94253	TCC	MYL1	-	NULL	ENSG00000168530		0.428	MYL1-001	KNOWN	basic|CCDS	protein_coding	MYL1	HGNC	protein_coding	OTTHUMT00000256566.2		0.00	11	0	G	NM_079420		211158470	-1			no_errors	ENST00000352451	ensembl	human	known	74_37	missense	6.25	30	2	SNP	1.000	T
MYO5B	4645	genome.wustl.edu	37	18	47363917	47363917	+	Missense_Mutation	SNP	A	A	G	rs138128932	byFrequency	TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr18:47363917A>G	ENST00000285039.7	-	37	5407	c.5108T>C	c.(5107-5109)gTc>gCc	p.V1703A	SCARNA17_ENST00000589499.1_RNA|MYO5B_ENST00000592688.1_Missense_Mutation_p.V273A|RP11-886H22.1_ENST00000590532.2_Missense_Mutation_p.V26A|MYO5B_ENST00000324581.6_Missense_Mutation_p.V818A	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1703	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.				endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)	p.V1703A(5)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CCAAGAGCAGACGTCCTTCCG	0.527																																																	5	Substitution - Missense(5)	endometrium(2)|kidney(2)|lung(1)											70.0	68.0	69.0					18																	47363917		2027	4186	6213	SO:0001583	missense	0			AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"""Myosins / Myosin superfamily : Class V"""	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.5108T>C	18.37:g.47363917A>G	ENSP00000285039:p.Val1703Ala		B0I1R3|Q0P656|Q9H6Y6	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.V1703A	ENST00000285039.7	37	c.5108	CCDS42436.1	18	.	.	.	.	.	.	.	.	.	.	A	14.46	2.542024	0.45280	.	.	ENSG00000167306	ENST00000285039;ENST00000324581	D;T	0.86432	-2.12;2.51	4.77	0.996	0.19844	Dilute (1);Dil domain (1);	0.146358	0.45126	N	0.000396	T	0.78534	0.4298	L	0.40543	1.245	0.36910	D	0.890859	B;B	0.13145	0.001;0.007	B;B	0.21708	0.012;0.036	T	0.66284	-0.5962	10	0.19147	T	0.46	.	8.6034	0.33758	0.7815:0.0:0.2185:0.0	.	1703;818	Q9ULV0;Q9H6Y6	MYO5B_HUMAN;.	A	1703;818	ENSP00000285039:V1703A;ENSP00000315531:V818A	ENSP00000285039:V1703A	V	-	2	0	MYO5B	45617915	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	4.310000	0.59141	0.082000	0.17018	0.482000	0.46254	GTC	MYO5B	-	pfam_Dil_domain,pfscan_Dilute	ENSG00000167306		0.527	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO5B	HGNC	protein_coding	OTTHUMT00000448515.2	-	0.00	33	0	A			47363917	-1	tier1	rs138128932	no_errors	ENST00000285039	ensembl	human	known	74_37	missense	11.48	53	7	SNP	1.000	G
MYOC	4653	genome.wustl.edu	37	1	171605571	171605571	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr1:171605571G>T	ENST00000037502.6	-	3	1080	c.1009C>A	c.(1009-1011)Cag>Aag	p.Q337K		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	337	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.		Q -> E (in GLC1A). {ECO:0000269|PubMed:10916185}.|Q -> R (in GLC1A). {ECO:0000269|PubMed:9361308}.		bone development (GO:0060348)|clustering of voltage-gated sodium channels (GO:0045162)|ERBB2-ERBB3 signaling pathway (GO:0038133)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neuron projection development (GO:0031175)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|osteoblast differentiation (GO:0001649)|positive regulation of cell migration (GO:0030335)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of MAPK cascade (GO:0043408)|skeletal muscle hypertrophy (GO:0014734)	cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|node of Ranvier (GO:0033268)|proteinaceous extracellular matrix (GO:0005578)	fibronectin binding (GO:0001968)|frizzled binding (GO:0005109)|myosin light chain binding (GO:0032027)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TCAGCGCCCTGGAAATAGAGG	0.537																																																	0			GRCh37	CD085827|CM004565	MYOC	D|M							70.0	67.0	68.0					1																	171605571		2203	4300	6503	SO:0001583	missense	0			BC029261	CCDS1297.1	1q23-q24	2008-02-05			ENSG00000034971	ENSG00000034971			7610	protein-coding gene	gene with protein product		601652		GLC1A		9169133, 9005853	Standard	NM_000261		Approved	TIGR, JOAG1	uc001ghu.3	Q99972	OTTHUMG00000034789	ENST00000037502.6:c.1009C>A	1.37:g.171605571G>T	ENSP00000037502:p.Gln337Lys		B2RD84|O00620|Q7Z6Q9	Missense_Mutation	SNP	pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like	p.Q337K	ENST00000037502.6	37	c.1009	CCDS1297.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.12|19.12	3.766407|3.766407	0.69878|0.69878	.|.	.|.	ENSG00000034971|ENSG00000034971	ENST00000537133|ENST00000037502;ENST00000357746;ENST00000536591	.|D	.|0.90004	.|-2.6	5.76|5.76	5.76|5.76	0.90799|0.90799	.|Olfactomedin-like (3);	.|0.049149	.|0.85682	.|D	.|0.000000	.|D	.|0.93993	.|0.8076	M|M	0.81682|0.81682	2.555|2.555	0.58432|0.58432	D|D	0.999994|0.999994	.|D;D	.|0.71674	.|0.998;0.984	.|D;P	.|0.71870	.|0.975;0.844	.|D	.|0.93767	.|0.7071	.|10	.|0.59425	.|D	.|0.04	.|.	18.5426|18.5426	0.91035|0.91035	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|279;337	.|B4DV44;Q99972	.|.;MYOC_HUMAN	.|K	-1|337;290;270	.|ENSP00000037502:Q337K	.|ENSP00000037502:Q337K	.|Q	-|-	.|1	.|0	MYOC|MYOC	169872194|169872194	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.244000|0.244000	0.25665|0.25665	4.713000|4.713000	0.61895|0.61895	2.719000|2.719000	0.93026|0.93026	0.555000|0.555000	0.69702|0.69702	.|CAG	MYOC	-	pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like	ENSG00000034971		0.537	MYOC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOC	HGNC	protein_coding	OTTHUMT00000084178.2	-	0.00	83	0	G	NM_000261		171605571	-1	tier1	-	no_errors	ENST00000037502	ensembl	human	known	74_37	missense	6.25	60	4	SNP	1.000	T
NAA50	80218	genome.wustl.edu	37	3	113442354	113442354	+	Silent	SNP	G	G	A			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr3:113442354G>A	ENST00000240922.3	-	3	504	c.180C>T	c.(178-180)tgC>tgT	p.C60C	NAA50_ENST00000467022.1_5'Flank|NAA50_ENST00000493454.1_5'UTR|NAA50_ENST00000493900.1_Silent_p.C59C|NAA50_ENST00000497255.1_Intron|NAA50_ENST00000497525.1_5'UTR|NAA50_ENST00000477813.1_Intron	NM_025146.2	NP_079422.1	Q9GZZ1	NAA50_HUMAN	N(alpha)-acetyltransferase 50, NatE catalytic subunit	60	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				histone H4 acetylation (GO:0043967)|mitotic sister chromatid cohesion, centromeric (GO:0071962)|N-terminal protein amino acid acetylation (GO:0006474)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	H4 histone acetyltransferase activity (GO:0010485)|peptide alpha-N-acetyltransferase activity (GO:0004596)|peptidyl-lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0052858)			large_intestine(2)|lung(2)|skin(1)	5						CCACCCTACAGCATACTGCAC	0.378																																																	0													108.0	100.0	103.0					3																	113442354		2203	4299	6502	SO:0001819	synonymous_variant	0			AK023256	CCDS2975.1	3q13.31	2010-05-07	2010-01-14	2010-01-14	ENSG00000121579	ENSG00000121579	2.3.1.-	"""N(alpha)-acetyltransferase subunits"""	29533	protein-coding gene	gene with protein product		610834	"""Mak3 homolog (S. cerevisiae)"", ""N-acetyltransferase 13"", ""N-acetyltransferase 13 (GCN5-related)"""	MAK3, NAT13		16507339, 17502424, 19660095	Standard	NM_025146		Approved	FLJ13194, NAT5, San	uc003ean.2	Q9GZZ1	OTTHUMG00000159294	ENST00000240922.3:c.180C>T	3.37:g.113442354G>A			D3DN74|Q68DQ1	Silent	SNP	pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	p.C60	ENST00000240922.3	37	c.180	CCDS2975.1	3																																																																																			NAA50	-	pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	ENSG00000121579		0.378	NAA50-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NAA50	HGNC	protein_coding	OTTHUMT00000354446.2		0.00	16	0	G	NM_025146		113442354	-1			no_errors	ENST00000240922	ensembl	human	known	74_37	silent	5.88	32	2	SNP	1.000	A
NALCN	259232	genome.wustl.edu	37	13	101733971	101733971	+	Silent	SNP	C	C	T	rs150385138		TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr13:101733971C>T	ENST00000251127.6	-	34	3873	c.3792G>A	c.(3790-3792)tcG>tcA	p.S1264S		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1264					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AGCCAGCAGGCGACATTGCTA	0.438																																																	0								C		1,4405	2.1+/-5.4	0,1,2202	128.0	105.0	113.0		3792	-11.2	0.4	13	dbSNP_134	113	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	NALCN	NM_052867.2		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		1264/1739	101733971	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.3792G>A	13.37:g.101733971C>T			Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Silent	SNP	pfam_Ion_trans_dom	p.S1264	ENST00000251127.6	37	c.3792	CCDS9498.1	13																																																																																			NALCN	-	pfam_Ion_trans_dom	ENSG00000102452		0.438	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NALCN	HGNC	protein_coding	OTTHUMT00000045663.2	-	0.00	33	0	C	NM_052867		101733971	-1	tier1	rs150385138	no_errors	ENST00000251127	ensembl	human	known	74_37	silent	75.00	17	51	SNP	0.663	T
NCAPD3	23310	genome.wustl.edu	37	11	134086947	134086947	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr11:134086947G>T	ENST00000534548.2	-	3	329	c.265C>A	c.(265-267)Ctg>Atg	p.L89M		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	89					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		AATGCCACCAGTGTACTATGG	0.398																																																	0													105.0	96.0	99.0					11																	134086947		2201	4297	6498	SO:0001583	missense	0			AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.265C>A	11.37:g.134086947G>T	ENSP00000433681:p.Leu89Met		A6NFS2|Q4KMQ9	Missense_Mutation	SNP	superfamily_ARM-type_fold,pirsf_NCAPD3	p.L89M	ENST00000534548.2	37	c.265	CCDS31723.1	11	.	.	.	.	.	.	.	.	.	.	G	16.84	3.232725	0.58777	.	.	ENSG00000151503	ENST00000534548	T	0.57273	0.41	5.59	2.61	0.31194	.	0.000000	0.85682	D	0.000000	T	0.66684	0.2814	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.65619	-0.6124	10	0.72032	D	0.01	-13.8515	9.9142	0.41423	0.2305:0.0:0.7695:0.0	.	89	P42695	CNDD3_HUMAN	M	89	ENSP00000433681:L89M	ENSP00000431612:L89M	L	-	1	2	NCAPD3	133592157	0.977000	0.34250	0.293000	0.24932	0.837000	0.47467	1.902000	0.39848	0.268000	0.21939	0.585000	0.79938	CTG	NCAPD3	-	pirsf_NCAPD3	ENSG00000151503		0.398	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAPD3	HGNC	protein_coding	OTTHUMT00000393575.2		0.00	21	0	G	NM_015261		134086947	-1			no_errors	ENST00000534548	ensembl	human	known	74_37	missense	5.06	75	4	SNP	0.693	T
NDN	4692	genome.wustl.edu	37	15	23932017	23932017	+	Missense_Mutation	SNP	C	C	A			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr15:23932017C>A	ENST00000331837.4	-	1	433	c.348G>T	c.(346-348)aaG>aaT	p.K116N		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	116	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				axon extension (GO:0048675)|axonal fasciculation (GO:0007413)|central nervous system development (GO:0007417)|genetic imprinting (GO:0071514)|glial cell migration (GO:0008347)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-embryonic development (GO:0009791)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|respiratory system process (GO:0003016)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.K116N(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		AGATGATCATCTTCTTCTGGT	0.642									Prader-Willi syndrome																																								1	Substitution - Missense(1)	large_intestine(1)											89.0	82.0	84.0					15																	23932017		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Prader-Labhart-Willi syndrome	U35139	CCDS10014.1	15q11-q12	2012-12-07	2012-12-07		ENSG00000182636	ENSG00000182636			7675	protein-coding gene	gene with protein product	"""Prader-Willi syndrome chromosome region"""	602117	"""necdin (mouse) homolog"", ""necdin homolog (mouse)"""			9302265	Standard	NM_002487		Approved	HsT16328, PWCR	uc001ywk.3	Q99608	OTTHUMG00000129161	ENST00000331837.4:c.348G>T	15.37:g.23932017C>A	ENSP00000332643:p.Lys116Asn		B2R6Z5	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.K116N	ENST00000331837.4	37	c.348	CCDS10014.1	15	.	.	.	.	.	.	.	.	.	.	C	14.11	2.436299	0.43224	.	.	ENSG00000182636	ENST00000331837	T	0.06608	3.28	3.7	-1.01	0.10169	.	0.184969	0.42821	D	0.000644	T	0.15046	0.0363	M	0.73217	2.22	0.33121	D	0.541792	D	0.54397	0.966	D	0.64877	0.93	T	0.09997	-1.0649	10	0.87932	D	0	.	4.4694	0.11704	0.0:0.419:0.3477:0.2333	.	116	Q99608	NECD_HUMAN	N	116	ENSP00000332643:K116N	ENSP00000332643:K116N	K	-	3	2	NDN	21483110	0.000000	0.05858	0.240000	0.24138	0.701000	0.40568	-0.679000	0.05203	-0.325000	0.08577	-0.175000	0.13238	AAG	NDN	-	pfam_MAGE,pfscan_MAGE	ENSG00000182636		0.642	NDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDN	HGNC	protein_coding	OTTHUMT00000251226.2		0.00	68	0	C	NM_002487		23932017	-1			no_errors	ENST00000331837	ensembl	human	known	74_37	missense	5.71	33	2	SNP	0.820	A
NEFM	4741	genome.wustl.edu	37	8	24774935	24774935	+	Nonsense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr8:24774935G>T	ENST00000221166.5	+	3	2349	c.1567G>T	c.(1567-1569)Gag>Tag	p.E523*	NEFM_ENST00000518131.1_Nonsense_Mutation_p.E523*|NEFM_ENST00000437366.2_Nonsense_Mutation_p.E523*|GS1-72M22.1_ENST00000607058.1_RNA|NEFM_ENST00000521540.1_Intron|NEFM_ENST00000433454.2_Nonsense_Mutation_p.E147*			P07197	NFM_HUMAN	neurofilament, medium polypeptide	523	Tail.				axon cargo transport (GO:0008088)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|regulation of axon diameter (GO:0031133)	axon (GO:0030424)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)|neuromuscular junction (GO:0031594)	microtubule binding (GO:0008017)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		AGTTAaagaagaggaagggga	0.488																																																	0													30.0	35.0	33.0					8																	24774935		2193	4277	6470	SO:0001587	stop_gained	0			BC002421	CCDS6046.1, CCDS47831.1	8p21	2013-01-16	2008-09-19	2006-11-20	ENSG00000104722	ENSG00000104722		"""Intermediate filaments type IV"""	7734	protein-coding gene	gene with protein product		162250	"""neurofilament, medium polypeptide 150kDa"""	NEF3		1348579	Standard	NM_001105541		Approved	NFM, NF-M	uc003xed.4	P07197	OTTHUMG00000131990	ENST00000221166.5:c.1567G>T	8.37:g.24774935G>T	ENSP00000221166:p.Glu523*		B4DGN2|E9PBF7|Q4QRK6	Nonsense_Mutation	SNP	pfam_IF,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin,prints_Keratin_I	p.E523*	ENST00000221166.5	37	c.1567	CCDS6046.1	8	.	.	.	.	.	.	.	.	.	.	G	22.1	4.243558	0.79912	.	.	ENSG00000104722	ENST00000221166;ENST00000518131;ENST00000437366;ENST00000433454	.	.	.	4.36	4.36	0.52297	.	0.165254	0.27735	N	0.018079	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	11.8669	0.52499	0.0895:0.0:0.9105:0.0	.	.	.	.	X	523;523;523;147	.	ENSP00000221166:E523X	E	+	1	0	NEFM	24830840	1.000000	0.71417	0.863000	0.33907	0.125000	0.20455	3.190000	0.50973	2.133000	0.65898	0.313000	0.20887	GAG	NEFM	-	NULL	ENSG00000104722		0.488	NEFM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEFM	HGNC	protein_coding	OTTHUMT00000254954.2		0.00	9	0	G	NM_005382		24774935	+1			no_errors	ENST00000221166	ensembl	human	known	74_37	nonsense	7.14	52	4	SNP	1.000	T
NFATC1	4772	genome.wustl.edu	37	18	77246359	77246359	+	Missense_Mutation	SNP	C	C	G	rs375009218		TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr18:77246359C>G	ENST00000427363.2	+	9	2204	c.2204C>G	c.(2203-2205)gCg>gGg	p.A735G	NFATC1_ENST00000545796.1_Missense_Mutation_p.A263G|NFATC1_ENST00000329101.4_Missense_Mutation_p.A722G|NFATC1_ENST00000253506.5_Missense_Mutation_p.A735G|NFATC1_ENST00000318065.5_Missense_Mutation_p.A722G|NFATC1_ENST00000397790.2_Missense_Mutation_p.A263G|NFATC1_ENST00000586434.1_Intron|NFATC1_ENST00000542384.1_Intron			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	735	Trans-activation domain B (TAD-B).				calcium ion transport (GO:0006816)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	FK506 binding (GO:0005528)|mitogen-activated protein kinase p38 binding (GO:0048273)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	Pseudoephedrine(DB00852)	CAGCAGCTCGCGATGCCACCC	0.632																																					GBM(151;1210 2593 28719 45011)												0													118.0	135.0	130.0					18																	77246359		2203	4300	6503	SO:0001583	missense	0			U08015	CCDS12015.1, CCDS12016.1, CCDS32850.1, CCDS59326.1, CCDS59327.1, CCDS62467.1, CCDS62468.1, CCDS62469.1, CCDS62470.1, CCDS62471.1	18q23	2009-11-24			ENSG00000131196	ENSG00000131196		"""Nuclear factor of activated T-cells"""	7775	protein-coding gene	gene with protein product		600489				8202141	Standard	NM_001278669		Approved	NF-ATC, NFATc, NFAT2	uc002lnf.3	O95644	OTTHUMG00000132897	ENST00000427363.2:c.2204C>G	18.37:g.77246359C>G	ENSP00000389377:p.Ala735Gly		B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3	Missense_Mutation	SNP	pfam_RHD,pfam_IPT,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT	p.A735G	ENST00000427363.2	37	c.2204		18	.	.	.	.	.	.	.	.	.	.	c	7.578	0.668090	0.14710	.	.	ENSG00000131196	ENST00000318065;ENST00000253506;ENST00000397790;ENST00000329101;ENST00000545796;ENST00000427363;ENST00000397794	T;T;T;T	0.23754	1.89;1.89;1.89;1.89	4.66	2.63	0.31362	.	1.096470	0.06845	N	0.796405	T	0.18800	0.0451	L	0.39898	1.24	0.09310	N	1	B;B	0.32526	0.251;0.374	B;B	0.28465	0.09;0.09	T	0.28996	-1.0026	10	0.22109	T	0.4	-10.114	5.1596	0.15054	0.0:0.3223:0.0:0.6777	.	735;722	O95644;B5B2M5	NFAC1_HUMAN;.	G	735;735;263;722;263;722;699	ENSP00000253506:A735G;ENSP00000380892:A263G;ENSP00000327850:A722G;ENSP00000439992:A263G	ENSP00000253506:A735G	A	+	2	0	NFATC1	75347347	0.138000	0.22547	0.001000	0.08648	0.007000	0.05969	1.420000	0.34804	0.399000	0.25367	0.639000	0.83563	GCG	NFATC1	-	NULL	ENSG00000131196		0.632	NFATC1-007	KNOWN	basic	protein_coding	NFATC1	HGNC	protein_coding	OTTHUMT00000450507.1	-	0.00	50	0	C	NM_172390		77246359	+1	tier1	-	no_errors	ENST00000427363	ensembl	human	known	74_37	missense	82.05	7	32	SNP	0.032	G
NHSL1	57224	genome.wustl.edu	37	6	138754115	138754115	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr6:138754115G>T	ENST00000427025.2	-	5	2007	c.1379C>A	c.(1378-1380)tCc>tAc	p.S460Y	NHSL1_ENST00000343505.5_Missense_Mutation_p.S456Y|MIR3145_ENST00000580727.1_RNA	NM_020464.1	NP_065197.1	Q5SYE7	NHSL1_HUMAN	NHS-like 1	460										breast(2)|endometrium(4)|kidney(1)	7						AGCATGCCTGGAGATGAGGTG	0.532																																																	0													119.0	96.0	103.0					6																	138754115		692	1591	2283	SO:0001583	missense	0			AB037778	CCDS47487.1, CCDS55063.1	6q23.3	2009-02-18	2004-10-07	2004-10-07	ENSG00000135540	ENSG00000135540			21021	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 63"""	C6orf63			Standard	NM_001144060		Approved	bA43P8.1, KIAA1357	uc011edp.2	Q5SYE7	OTTHUMG00000016321	ENST00000427025.2:c.1379C>A	6.37:g.138754115G>T	ENSP00000394546:p.Ser460Tyr		Q3ZCS5|Q5SYE8|Q9P2J0	Missense_Mutation	SNP	NULL	p.S460Y	ENST00000427025.2	37	c.1379	CCDS55063.1	6	.	.	.	.	.	.	.	.	.	.	G	22.4	4.284205	0.80803	.	.	ENSG00000135540	ENST00000427025;ENST00000343505	T;T	0.43688	0.94;1.45	5.17	5.17	0.71159	.	0.414242	0.23226	N	0.050506	T	0.45558	0.1348	L	0.57536	1.79	0.29958	N	0.819632	D;D	0.54964	0.969;0.969	P;P	0.54100	0.742;0.742	T	0.42396	-0.9454	10	0.66056	D	0.02	-5.029	19.0266	0.92934	0.0:0.0:1.0:0.0	.	456;460	E2QRJ1;Q5SYE7	.;NHSL1_HUMAN	Y	460;456	ENSP00000394546:S460Y;ENSP00000344672:S456Y	ENSP00000344672:S456Y	S	-	2	0	NHSL1	138795808	0.994000	0.37717	0.076000	0.20297	0.384000	0.30261	3.259000	0.51515	2.569000	0.86673	0.655000	0.94253	TCC	NHSL1	-	NULL	ENSG00000135540		0.532	NHSL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	NHSL1	HGNC	protein_coding	OTTHUMT00000043700.2	-	0.00	50	0	G	XM_050421		138754115	-1	tier1	-	no_errors	ENST00000427025	ensembl	human	known	74_37	missense	9.09	40	4	SNP	0.894	T
NKPD1	284353	genome.wustl.edu	37	19	45659086	45659086	+	5'UTR	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr19:45659086G>T	ENST00000438936.2	-	0	163				NKPD1_ENST00000317951.4_Silent_p.A206A|NKPD1_ENST00000429338.1_5'Flank|NKPD1_ENST00000589776.1_5'Flank			Q17RQ9	NKPD1_HUMAN	NTPase, KAP family P-loop domain containing 1							integral component of membrane (GO:0016021)				endometrium(1)|lung(4)|prostate(2)|urinary_tract(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		AGCCGAAAGGGGCATAGAAAC	0.602																																																	0													166.0	152.0	156.0					19																	45659086		692	1591	2283	SO:0001623	5_prime_UTR_variant	0			AK090919		19q13.32	2012-07-02		2012-07-02	ENSG00000179846	ENSG00000179846			24739	protein-coding gene	gene with protein product						14702039	Standard	NM_198478		Approved	FLJ33600	uc010xxi.2	Q17RQ9	OTTHUMG00000160521	ENST00000438936.2:c.-49C>A	19.37:g.45659086G>T			B7ZLG6|D6RH15|Q8N2A2	Silent	SNP	pfam_KAP_NTPase	p.A206	ENST00000438936.2	37	c.618		19																																																																																			NKPD1	-	pfam_KAP_NTPase	ENSG00000179846		0.602	NKPD1-001	KNOWN	basic	protein_coding	NKPD1	HGNC	protein_coding	OTTHUMT00000360950.2		0.00	84	0	G	NM_198478		45659086	-1			no_errors	ENST00000317951	ensembl	human	known	74_37	silent	5.41	70	4	SNP	1.000	T
NOD1	10392	genome.wustl.edu	37	7	30491747	30491747	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr7:30491747G>T	ENST00000222823.4	-	6	1811	c.1286C>A	c.(1285-1287)aCt>aAt	p.T429N		NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	429	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-8 biosynthetic process (GO:0042228)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of tumor necrosis factor production (GO:0032760)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)|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)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|identical protein binding (GO:0042802)|peptidoglycan binding (GO:0042834)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						ATGGACCTCAGTGACCAGGAG	0.617																																																	0													64.0	61.0	62.0					7																	30491747		2203	4300	6503	SO:0001583	missense	0			AF126484	CCDS5427.1	7p15-p14	2006-12-08	2006-12-08	2006-12-08	ENSG00000106100	ENSG00000106100		"""Nucleotide-binding domain and leucine rich repeat containing"""	16390	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 1"", ""NLR family, CARD domain containing 1"""	605980	"""caspase recruitment domain family, member 4"""	CARD4		10224040, 10329646	Standard	NM_006092		Approved	NLRC1, CLR7.1	uc003tav.3	Q9Y239	OTTHUMG00000023923	ENST00000222823.4:c.1286C>A	7.37:g.30491747G>T	ENSP00000222823:p.Thr429Asn		B4DTU3|Q549U4|Q8IWF5	Missense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD	p.T429N	ENST00000222823.4	37	c.1286	CCDS5427.1	7	.	.	.	.	.	.	.	.	.	.	G	11.05	1.526221	0.27299	.	.	ENSG00000106100	ENST00000222823	T	0.72394	-0.65	5.71	5.71	0.89125	NACHT nucleoside triphosphatase (1);	0.409048	0.29139	N	0.013036	T	0.64249	0.2581	M	0.67953	2.075	0.80722	D	1	P	0.44734	0.842	B	0.37047	0.24	T	0.69895	-0.5021	10	0.72032	D	0.01	.	7.8256	0.29313	0.0879:0.1654:0.7467:0.0	.	429	Q9Y239	NOD1_HUMAN	N	429	ENSP00000222823:T429N	ENSP00000222823:T429N	T	-	2	0	NOD1	30458272	0.996000	0.38824	0.992000	0.48379	0.388000	0.30384	2.810000	0.47979	2.691000	0.91804	0.563000	0.77884	ACT	NOD1	-	pfscan_NACHT_NTPase	ENSG00000106100		0.617	NOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOD1	HGNC	protein_coding	OTTHUMT00000250443.2	-	0.00	85	0	G			30491747	-1	tier1	-	no_errors	ENST00000222823	ensembl	human	known	74_37	missense	11.11	32	4	SNP	0.950	T
NOVA2	4858	genome.wustl.edu	37	19	46464310	46464310	+	Missense_Mutation	SNP	C	C	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr19:46464310C>T	ENST00000263257.5	-	2	381	c.187G>A	c.(187-189)Gga>Aga	p.G63R		NM_002516.2	NP_002507.1	Q9UNW9	NOVA2_HUMAN	neuro-oncological ventral antigen 2	63	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.				regulation of RNA metabolic process (GO:0051252)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(3)|large_intestine(5)|lung(13)	21		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)		ATGGTGGCTCCGGTCTCCTTC	0.637																																																	0													52.0	50.0	51.0					19																	46464310		2202	4299	6501	SO:0001583	missense	0			U70477	CCDS12679.1	19q13.3	2008-07-17				ENSG00000104967			7887	protein-coding gene	gene with protein product	"""neuro-oncological ventral antigen 3"""	601991		NOVA3		9344654, 10368286	Standard	NM_002516		Approved	ANOVA	uc002pdv.2	Q9UNW9		ENST00000263257.5:c.187G>A	19.37:g.46464310C>T	ENSP00000263257:p.Gly63Arg		O43267|Q9UEA1	Missense_Mutation	SNP	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	p.G63R	ENST00000263257.5	37	c.187	CCDS12679.1	19	.	.	.	.	.	.	.	.	.	.	C	19.57	3.853345	0.71719	.	.	ENSG00000104967	ENST00000263257	T	0.50001	0.76	5.03	3.92	0.45320	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.68732	0.3033	M	0.83953	2.67	0.58432	D	0.99999	D	0.89917	1.0	D	0.85130	0.997	T	0.73487	-0.3967	10	0.87932	D	0	-11.6267	12.2775	0.54744	0.1703:0.8297:0.0:0.0	.	63	Q9UNW9	NOVA2_HUMAN	R	63	ENSP00000263257:G63R	ENSP00000263257:G63R	G	-	1	0	NOVA2	51156150	1.000000	0.71417	0.944000	0.38274	0.953000	0.61014	7.146000	0.77373	2.518000	0.84900	0.456000	0.33151	GGA	NOVA2	-	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	ENSG00000104967		0.637	NOVA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOVA2	HGNC	protein_coding	OTTHUMT00000437210.2	-	0.00	85	0	C	NM_002516		46464310	-1	tier1	-	no_errors	ENST00000263257	ensembl	human	known	74_37	missense	55.81	19	24	SNP	0.993	T
NOX4	50507	genome.wustl.edu	37	11	89133193	89133193	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr11:89133193G>T	ENST00000263317.4	-	11	1304	c.1066C>A	c.(1066-1068)Ctc>Atc	p.L356I	NOX4_ENST00000534731.1_Missense_Mutation_p.L356I|NOX4_ENST00000413594.2_Missense_Mutation_p.L377I|NOX4_ENST00000527956.1_Missense_Mutation_p.L332I|NOX4_ENST00000343727.5_Missense_Mutation_p.L332I|NOX4_ENST00000531342.1_Intron|NOX4_ENST00000375979.3_Intron|NOX4_ENST00000532825.1_Missense_Mutation_p.L332I|NOX4_ENST00000535633.1_Missense_Mutation_p.L332I|NOX4_ENST00000528341.1_Missense_Mutation_p.L331I|NOX4_ENST00000542487.1_Missense_Mutation_p.L332I|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000527626.1_Missense_Mutation_p.L190I|NOX4_ENST00000424319.1_Missense_Mutation_p.L332I			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	356	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.|Mediates interaction with TLR4.				bone resorption (GO:0045453)|cardiac muscle cell differentiation (GO:0055007)|cell aging (GO:0007569)|cell morphogenesis (GO:0000902)|cellular response to cAMP (GO:0071320)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to transforming growth factor beta stimulus (GO:0071560)|homocysteine metabolic process (GO:0050667)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)|superoxide anion generation (GO:0042554)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|modified amino acid binding (GO:0072341)|NAD(P)H oxidase activity (GO:0016174)|nucleotide binding (GO:0000166)|oxygen sensor activity (GO:0019826)|superoxide-generating NADPH oxidase activity (GO:0016175)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				ACCATTGTGAGGGTAAATGGA	0.308																																																	0													90.0	91.0	91.0					11																	89133193		2201	4296	6497	SO:0001583	missense	0			AF254621	CCDS8285.1, CCDS44695.1, CCDS44696.1, CCDS73361.1, CCDS73362.1	11q14.2-q21	2008-02-05			ENSG00000086991	ENSG00000086991			7891	protein-coding gene	gene with protein product		605261					Standard	NM_001143837		Approved	KOX-1, KOX	uc001pct.3	Q9NPH5	OTTHUMG00000167298	ENST00000263317.4:c.1066C>A	11.37:g.89133193G>T	ENSP00000263317:p.Leu356Ile		A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	Missense_Mutation	SNP	pfam_Fe_red_NAD-bd_6,pfam_Fe3_Rdtase_TM_dom,pfam_FAD-bd_8,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain	p.L377I	ENST00000263317.4	37	c.1129	CCDS8285.1	11	.	.	.	.	.	.	.	.	.	.	G	19.15	3.772731	0.69992	.	.	ENSG00000086991	ENST00000424319;ENST00000535633;ENST00000343727;ENST00000534731;ENST00000263317;ENST00000532825;ENST00000527956;ENST00000542487;ENST00000527626;ENST00000528341;ENST00000413594	D;D;D;D;D;D;D;D;D;D;D	0.89746	-2.56;-2.56;-2.56;-2.56;-2.56;-2.56;-2.56;-2.56;-2.56;-2.56;-2.56	4.77	4.77	0.60923	Riboflavin synthase-like beta-barrel (1);FAD-binding 8 (1);Ferredoxin reductase-type FAD-binding domain (1);	0.000000	0.64402	D	0.000001	D	0.90188	0.6933	N	0.22421	0.69	0.46260	D	0.998956	P;D;D;D;P	0.76494	0.747;0.977;0.999;0.994;0.756	P;D;D;D;P	0.79784	0.759;0.936;0.993;0.953;0.678	D	0.89387	0.3686	9	.	.	.	-12.6906	18.1413	0.89641	0.0:0.0:1.0:0.0	.	332;190;331;356;356	E9PMY6;E9PR43;E9PPP2;Q9NPH5-6;Q9NPH5	.;.;.;.;NOX4_HUMAN	I	332;332;332;356;356;332;332;332;190;331;377	ENSP00000412446:L332I;ENSP00000440172:L332I;ENSP00000344747:L332I;ENSP00000436892:L356I;ENSP00000263317:L356I;ENSP00000434924:L332I;ENSP00000433797:L332I;ENSP00000439373:L332I;ENSP00000436093:L190I;ENSP00000436970:L331I;ENSP00000405705:L377I	.	L	-	1	0	NOX4	88772841	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.311000	0.65786	2.362000	0.80069	0.561000	0.74099	CTC	NOX4	-	pfam_FAD-bd_8,superfamily_Riboflavin_synthase-like_b-brl	ENSG00000086991		0.308	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOX4	HGNC	protein_coding	OTTHUMT00000394054.1		0.00	22	0	G	NM_016931		89133193	-1			no_errors	ENST00000413594	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	T
NPHP4	261734	genome.wustl.edu	37	1	5934999	5934999	+	Frame_Shift_Del	DEL	A	A	-			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr1:5934999delA	ENST00000378156.4	-	21	3244	c.2979delT	c.(2977-2979)tttfs	p.F993fs	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	993					actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		TCTTAAGCACAAACTCAAAGA	0.632																																																	0													92.0	110.0	104.0					1																	5934999		2149	4244	6393	SO:0001589	frameshift_variant	0			AB014573	CCDS44052.1	1p36	2010-03-26			ENSG00000131697	ENSG00000131697			19104	protein-coding gene	gene with protein product	"""nephroretinin"", ""nephrocystin-4"", ""POC10 centriolar protein homolog (Chlamydomonas)"""	607215				11920287, 12205563	Standard	XR_244787		Approved	SLSN4, KIAA0673, POC10	uc001alq.2	O75161	OTTHUMG00000000701	ENST00000378156.4:c.2979delT	1.37:g.5934999delA	ENSP00000367398:p.Phe993fs		Q8IWC0	Frame_Shift_Del	DEL	NULL	p.F993fs	ENST00000378156.4	37	c.2979	CCDS44052.1	1																																																																																			NPHP4	-	NULL	ENSG00000131697		0.632	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	NPHP4	HGNC	protein_coding	OTTHUMT00000001715.2		0.00	83	0	A			5934999	-1	tier1		no_errors	ENST00000378156	ensembl	human	known	74_37	frame_shift_del	13.33	13	2	DEL	0.800	-
NR1D2	9975	genome.wustl.edu	37	3	24004096	24004096	+	Splice_Site	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr3:24004096G>T	ENST00000312521.4	+	5	1465	c.1146G>T	c.(1144-1146)ctG>ctT	p.L382L	NR1D2_ENST00000492552.1_3'UTR	NM_001145425.1|NM_005126.4	NP_001138897.1|NP_005117	Q14995	NR1D2_HUMAN	nuclear receptor subfamily 1, group D, member 2	382	Ligand-binding.				gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|lipid homeostasis (GO:0055088)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of inflammatory response (GO:0050727)|regulation of lipid metabolic process (GO:0019216)|regulation of skeletal muscle cell differentiation (GO:2001014)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						GAATGCATCTGGTATAGTGAA	0.378																																																	0													60.0	61.0	61.0					3																	24004096		2203	4300	6503	SO:0001630	splice_region_variant	0			BC045613	CCDS33718.1	3p24.1	2013-01-16			ENSG00000174738	ENSG00000174738		"""Nuclear hormone receptors"""	7963	protein-coding gene	gene with protein product		602304				7997240, 10198169	Standard	NM_005126		Approved	BD73, RVR, EAR-1r, HZF2, Hs.37288	uc003ccs.2	Q14995	OTTHUMG00000155659	ENST00000312521.4:c.1146+1G>T	3.37:g.24004096G>T			B2R8Q3|O00402|Q86XD4	Silent	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.L382	ENST00000312521.4	37	c.1146	CCDS33718.1	3																																																																																			NR1D2	-	superfamily_Nucl_hormone_rcpt_ligand-bd	ENSG00000174738		0.378	NR1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR1D2	HGNC	protein_coding	OTTHUMT00000341017.3	-	0.00	12	0	G		Silent	24004096	+1	tier1	-	no_errors	ENST00000312521	ensembl	human	known	74_37	silent	17.39	19	4	SNP	1.000	T
NRG3	10718	genome.wustl.edu	37	10	83635710	83635710	+	Missense_Mutation	SNP	C	C	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr10:83635710C>T	ENST00000404547.1	+	1	614	c.614C>T	c.(613-615)aCg>aTg	p.T205M	NRG3_ENST00000556918.1_5'Flank|NRG3_ENST00000372141.2_Missense_Mutation_p.T205M|NRG3_ENST00000404576.2_5'Flank|NRG3_ENST00000372142.2_5'Flank			P56975	NRG3_HUMAN	neuregulin 3	205	Ser/Thr-rich.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|intracellular signal transduction (GO:0035556)|mammary placode formation (GO:0060596)|pattern specification process (GO:0007389)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	growth factor activity (GO:0008083)|receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		AGTAGCAGCACGCTGGGCTCC	0.677																																																	0													51.0	52.0	52.0					10																	83635710		2203	4300	6503	SO:0001583	missense	0			AK098823	CCDS31233.1, CCDS53547.1	10q22-q23	2003-09-09			ENSG00000185737	ENSG00000185737			7999	protein-coding gene	gene with protein product		605533				9275162	Standard	NM_001010848		Approved		uc001kco.2	P56975	OTTHUMG00000018626	ENST00000404547.1:c.614C>T	10.37:g.83635710C>T	ENSP00000384796:p.Thr205Met		A4D7U1|Q0PEH2|Q5VYH3	Missense_Mutation	SNP	pfscan_EG-like_dom	p.T205M	ENST00000404547.1	37	c.614	CCDS31233.1	10	.	.	.	.	.	.	.	.	.	.	C	11.52	1.662589	0.29515	.	.	ENSG00000185737	ENST00000372141;ENST00000404547;ENST00000537287	T;T	0.32753	1.44;1.44	3.41	3.41	0.39046	.	0.839391	0.09868	U	0.745268	T	0.24547	0.0595	N	0.22421	0.69	0.80722	D	1	B;B	0.33748	0.423;0.423	B;B	0.34590	0.186;0.186	T	0.10917	-1.0609	10	0.51188	T	0.08	-11.1467	12.7368	0.57230	0.0:1.0:0.0:0.0	.	205;205	B9EGV5;P56975-4	.;.	M	205	ENSP00000361214:T205M;ENSP00000384796:T205M	ENSP00000361214:T205M	T	+	2	0	NRG3	83625690	0.977000	0.34250	0.949000	0.38748	0.887000	0.51463	0.917000	0.28665	1.920000	0.55613	0.478000	0.44815	ACG	NRG3	-	NULL	ENSG00000185737		0.677	NRG3-005	KNOWN	basic|CCDS	protein_coding	NRG3	HGNC	protein_coding	OTTHUMT00000412262.1	-	0.00	192	0	C	XM_166086		83635710	+1	tier1	-	no_errors	ENST00000404547	ensembl	human	known	74_37	missense	24.51	77	25	SNP	0.950	T
NRP2	8828	genome.wustl.edu	37	2	206656994	206656994	+	Nonsense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr2:206656994G>T	ENST00000357785.5	+	16	2492	c.2461G>T	c.(2461-2463)Gaa>Taa	p.E821*	NRP2_ENST00000360409.3_Nonsense_Mutation_p.E826*|NRP2_ENST00000412873.2_Intron|NRP2_ENST00000540178.1_Nonsense_Mutation_p.E821*|NRP2_ENST00000540841.1_Intron			Q99435	NELL2_HUMAN	neuropilin 2	0						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						AGAAGGATATGAAGATGAAAT	0.333																																																	0													174.0	178.0	177.0					2																	206656994		2203	4300	6503	SO:0001587	stop_gained	0			AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257			8005	protein-coding gene	gene with protein product		602070				9529250, 9331348	Standard	NM_003872		Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	ENST00000357785.5:c.2461G>T	2.37:g.206656994G>T	ENSP00000350432:p.Glu821*		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Nonsense_Mutation	SNP	pirsf_Neuropilin,pfam_CUB_dom,pfam_Coagulation_fac_5/8-C_type_dom,pfam_MAM_dom,pfam_Neuropilin1_C,superfamily_Galactose-bd-like,superfamily_CUB_dom,superfamily_ConA-like_lec_gl_sf,smart_CUB_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_MAM_dom,prints_MAM_dom,pfscan_CUB_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_MAM_dom	p.E826*	ENST00000357785.5	37	c.2476	CCDS46496.1	2	.	.	.	.	.	.	.	.	.	.	G	36	5.820136	0.96989	.	.	ENSG00000118257	ENST00000360409;ENST00000540178;ENST00000357785	.	.	.	5.65	5.65	0.86999	.	0.381500	0.31624	N	0.007328	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	-1.8059	16.751	0.85485	0.0:0.0:1.0:0.0	.	.	.	.	X	826;821;821	.	ENSP00000350432:E821X	E	+	1	0	NRP2	206365239	1.000000	0.71417	0.995000	0.50966	0.265000	0.26407	5.274000	0.65569	2.941000	0.99782	0.655000	0.94253	GAA	NRP2	-	pirsf_Neuropilin	ENSG00000118257		0.333	NRP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NRP2	HGNC	protein_coding	OTTHUMT00000336467.1		0.00	25	0	G			206656994	+1			no_errors	ENST00000360409	ensembl	human	known	74_37	nonsense	5.08	56	3	SNP	1.000	T
LINC01378	103689918	genome.wustl.edu	37	4	118497239	118497239	+	lincRNA	SNP	G	G	A			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr4:118497239G>A	ENST00000422145.3	+	0	159				NT5C3AP1_ENST00000441170.1_RNA																							CGCCACGGCCGCGCGGTCCAT	0.657																																																	0																																												0																															4.37:g.118497239G>A				RNA	SNP	-	NULL	ENST00000422145.3	37	NULL		4																																																																																			NT5C3AP1	-	-	ENSG00000213492		0.657	AC092661.1-002	KNOWN	basic	lincRNA	NT5C3AP1	HGNC	lincRNA	OTTHUMT00000291362.3	-	0.00	67	0	G			118497239	-1	tier1	-	no_errors	ENST00000441170	ensembl	human	known	74_37	rna	63.04	17	29	SNP	0.971	A
NUP188	23511	genome.wustl.edu	37	9	131761962	131761962	+	Nonsense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr9:131761962G>T	ENST00000372577.2	+	34	3742	c.3721G>T	c.(3721-3723)Gaa>Taa	p.E1241*		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1241					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						CCTCCAAGAGGAAGTGATTGC	0.557																																																	0													89.0	77.0	81.0					9																	131761962		2203	4300	6503	SO:0001587	stop_gained	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.3721G>T	9.37:g.131761962G>T	ENSP00000361658:p.Glu1241*		Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Nonsense_Mutation	SNP	pfam_Nucleoporin_Nup188,superfamily_ARM-type_fold	p.E1241*	ENST00000372577.2	37	c.3721	CCDS35156.1	9	.	.	.	.	.	.	.	.	.	.	G	43	10.452299	0.99408	.	.	ENSG00000095319	ENST00000356693;ENST00000372577	.	.	.	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-28.1992	17.8831	0.88846	0.0:0.0:1.0:0.0	.	.	.	.	X	1130;1241	.	ENSP00000349125:E1130X	E	+	1	0	NUP188	130801783	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.827000	0.92041	2.473000	0.83533	0.563000	0.77884	GAA	NUP188	-	NULL	ENSG00000095319		0.557	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP188	HGNC	protein_coding	OTTHUMT00000054529.2		0.00	45	0	G			131761962	+1			no_errors	ENST00000372577	ensembl	human	known	74_37	nonsense	5.71	33	2	SNP	1.000	T
OAS3	4940	genome.wustl.edu	37	12	113388603	113388603	+	Missense_Mutation	SNP	G	G	T	rs201050892		TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr12:113388603G>T	ENST00000228928.7	+	7	1659	c.1480G>T	c.(1480-1482)Gca>Tca	p.A494S	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	494	OAS domain 2.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|nucleobase-containing compound metabolic process (GO:0006139)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						GCCCCGCCGCGCAGAGATCCT	0.582																																																	0													78.0	87.0	84.0					12																	113388603		1959	4126	6085	SO:0001583	missense	0			AF063613	CCDS44981.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111331			8088	protein-coding gene	gene with protein product		603351	"""2'-5'-oligoadenylate synthetase 3 (100 kD)"""			9790745	Standard	NM_006187		Approved		uc001tug.3	Q9Y6K5	OTTHUMG00000169795	ENST00000228928.7:c.1480G>T	12.37:g.113388603G>T	ENSP00000228928:p.Ala494Ser		Q2HJ14|Q9H3P5	Missense_Mutation	SNP	pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N	p.A494S	ENST00000228928.7	37	c.1480	CCDS44981.1	12	.	.	.	.	.	.	.	.	.	.	G	10.07	1.248903	0.22880	.	.	ENSG00000111331	ENST00000228928;ENST00000323881	T	0.06849	3.25	4.26	-0.0246	0.13938	2-5-oligoadenylate synthetase, N-terminal (1);	.	.	.	.	T	0.05318	0.0141	N	0.25380	0.74	0.09310	N	1	B	0.24920	0.114	B	0.19666	0.026	T	0.40059	-0.9583	9	0.37606	T	0.19	.	4.9318	0.13921	0.2159:0.397:0.3871:0.0	.	494	Q9Y6K5	OAS3_HUMAN	S	494;493	ENSP00000228928:A494S	ENSP00000228928:A494S	A	+	1	0	OAS3	111872986	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.091000	0.11146	0.096000	0.17463	-0.812000	0.03155	GCA	OAS3	-	pfscan_2-5-oligoadenylate_synth_N	ENSG00000111331		0.582	OAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OAS3	HGNC	protein_coding	OTTHUMT00000405920.1	-	0.00	75	0	G			113388603	+1	tier1	-	no_errors	ENST00000228928	ensembl	human	known	74_37	missense	12.50	28	4	SNP	0.000	T
OGDHL	55753	genome.wustl.edu	37	10	50966616	50966616	+	Missense_Mutation	SNP	G	G	T	rs200629482	byFrequency	TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr10:50966616G>T	ENST00000374103.4	-	2	108	c.23C>A	c.(22-24)cCg>cAg	p.P8Q	OGDHL_ENST00000419399.1_Missense_Mutation_p.P8Q|OGDHL_ENST00000432695.1_Intron	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	8					glycolytic process (GO:0006096)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						AAGACGGGACGGCAGCAGCCT	0.622																																																	0													36.0	36.0	36.0					10																	50966616		2203	4299	6502	SO:0001583	missense	0			AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444			25590	protein-coding gene	gene with protein product						10574462	Standard	NM_018245		Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.23C>A	10.37:g.50966616G>T	ENSP00000363216:p.Pro8Gln		A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Missense_Mutation	SNP	pfam_DH_E1,pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1	p.P8Q	ENST00000374103.4	37	c.23	CCDS7234.1	10	.	.	.	.	.	.	.	.	.	.	g	11.52	1.662781	0.29515	.	.	ENSG00000197444	ENST00000374103;ENST00000419399	T;T	0.05786	3.46;3.39	5.91	2.96	0.34315	.	0.472378	0.22349	N	0.061223	T	0.02767	0.0083	N	0.08118	0	0.80722	D	1	B;P	0.38617	0.052;0.64	B;B	0.29942	0.066;0.109	T	0.58008	-0.7712	10	0.45353	T	0.12	.	7.5131	0.27585	0.2874:0.0:0.7126:0.0	.	8;8	Q9ULD0-2;Q9ULD0	.;OGDHL_HUMAN	Q	8	ENSP00000363216:P8Q;ENSP00000401356:P8Q	ENSP00000363216:P8Q	P	-	2	0	OGDHL	50636622	0.015000	0.18098	0.218000	0.23776	0.325000	0.28411	0.297000	0.19101	0.342000	0.23796	-0.119000	0.15052	CCG	OGDHL	-	NULL	ENSG00000197444		0.622	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OGDHL	HGNC	protein_coding	OTTHUMT00000048007.1		0.00	106	0	G	NM_018245		50966616	-1			no_errors	ENST00000374103	ensembl	human	known	74_37	missense	6.38	44	3	SNP	0.909	T
OR2J1	442185	genome.wustl.edu	37	6	29068980	29068980	+	Nonsense_Mutation	SNP	G	G	A			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr6:29068980G>A	ENST00000377171.3	+	1	595	c.261G>A	c.(259-261)tgG>tgA	p.W87*				Q9GZK6	OR2J1_HUMAN	olfactory receptor, family 2, subfamily J, member 1 (gene/pseudogene)	87						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|lung(6)	7						TGAATCTCTGGGGCCCGGAAA	0.498																																																	0																																										SO:0001587	stop_gained	0					6p22.2-p21.31	2012-08-09	2011-08-30	2004-05-28	ENSG00000204702	ENSG00000204702		"""GPCR / Class A : Olfactory receptors"""	8259	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily J, member 1 pseudogene"", ""olfactory receptor, family 2, subfamily J, member 1"""	OR2J1P			Standard	NG_004683		Approved	OR6-5, hs6M1-4, dJ80I19.2		Q9GZK6	OTTHUMG00000031280	ENST00000377171.3:c.261G>A	6.37:g.29068980G>A	ENSP00000366376:p.Trp87*		A2AAS1|B0V1T2|Q9GZK1	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.W87*	ENST00000377171.3	37	c.261		6	.	.	.	.	.	.	.	.	.	.	G	15.72	2.917652	0.52546	.	.	ENSG00000204702	ENST00000377171	.	.	.	2.38	2.38	0.29361	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	.	4.989	0.14205	0.1331:0.2202:0.6467:0.0	.	.	.	.	X	87	.	ENSP00000366376:W87X	W	+	3	0	OR2J1	29176959	0.000000	0.05858	0.283000	0.24790	0.162000	0.22319	-0.014000	0.12656	1.309000	0.44985	0.591000	0.81541	TGG	OR2J1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000204702		0.498	OR2J1-001	KNOWN	basic|appris_principal	protein_coding	OR2J1	HGNC	protein_coding	OTTHUMT00000076612.2	-	0.00	40	0	G	NG_004683		29068980	+1	tier1	-	no_errors	ENST00000377171	ensembl	human	known	74_37	nonsense	64.29	15	27	SNP	0.001	A
OPRM1	4988	genome.wustl.edu	37	6	154431489	154431489	+	Intron	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr6:154431489G>T	ENST00000330432.7	+	4	1401				OPRM1_ENST00000522555.1_Intron|OPRM1_ENST00000522236.1_Intron|OPRM1_ENST00000520708.1_Intron|OPRM1_ENST00000337049.4_Intron|OPRM1_ENST00000518759.1_Intron|OPRM1_ENST00000452687.2_Splice_Site|OPRM1_ENST00000434900.2_Intron	NM_000914.3	NP_000905.3	P35372	OPRM_HUMAN	opioid receptor, mu 1						adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral response to ethanol (GO:0048149)|calcium ion transmembrane transport (GO:0070588)|cellular response to stress (GO:0033554)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|locomotory behavior (GO:0007626)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of Wnt protein secretion (GO:0061358)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neurogenesis (GO:0050769)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-endorphin receptor activity (GO:0004979)|G-protein alpha-subunit binding (GO:0001965)|G-protein coupled receptor activity (GO:0004930)|morphine receptor activity (GO:0038047)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Alvimopan(DB06274)|Amitriptyline(DB00321)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Ethylmorphine(DB01466)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Methylnaltrexone(DB06800)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Ondansetron(DB00904)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Pethidine(DB00454)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	TATCTTTGCAGAAAATAGATT	0.294																																																	0													47.0	41.0	43.0					6																	154431489		692	1591	2283	SO:0001627	intron_variant	0			L29301	CCDS43517.1, CCDS43518.1, CCDS47503.1, CCDS47504.1, CCDS47505.1, CCDS47506.1, CCDS47507.1, CCDS47508.1, CCDS55071.1, CCDS55068.1, CCDS55069.1, CCDS55070.1	6q24-q25	2012-08-08			ENSG00000112038	ENSG00000112038		"""GPCR / Class A : Opioid receptors"""	8156	protein-coding gene	gene with protein product		600018					Standard	NM_001145285		Approved	MOR1	uc003qpo.1	P35372	OTTHUMG00000015870	ENST00000330432.7:c.1165-8329G>T	6.37:g.154431489G>T			B0FXJ1|B2R9S7|B8Q1L7|B8Q1L8|B8Q1L9|E7EWZ3|G8XRH6|G8XRH8|Q12930|Q4VWM1|Q4VWM2|Q4VWM3|Q4VWM4|Q4VWM6|Q4VWX6|Q5TDA1|Q6UPP1|Q6UQ80|Q7Z2D8|Q86V80|Q8IWW3|Q8IWW4|Q9UCZ4|Q9UN57	Splice_Site	SNP	-	e4-1	ENST00000330432.7	37	c.1165-1	CCDS55070.1	6	.	.	.	.	.	.	.	.	.	.	G	0.613	-0.824298	0.02755	.	.	ENSG00000112038	ENST00000452687	.	.	.	3.43	0.392	0.16288	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.5087	0.16868	0.428:0.0:0.572:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	OPRM1	154473181	0.610000	0.26983	0.070000	0.20053	0.203000	0.24098	0.089000	0.15002	0.054000	0.16065	-0.236000	0.12185	.	OPRM1	-	-	ENSG00000112038		0.294	OPRM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OPRM1	HGNC	protein_coding	OTTHUMT00000042786.2	-	0.00	10	0	G	NM_000914		154431489	+1	tier1	-	no_errors	ENST00000452687	ensembl	human	known	74_37	splice_site	28.26	33	13	SNP	0.141	T
OR6C65	403282	genome.wustl.edu	37	12	55794997	55794997	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr12:55794997G>T	ENST00000379665.2	+	1	784	c.685G>T	c.(685-687)Gcc>Tcc	p.A229S		NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C, member 65	229						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						GATTCCCTCTGCCCAGCAAAG	0.398																																																	0													156.0	148.0	151.0					12																	55794997		2203	4300	6503	SO:0001583	missense	0				CCDS31821.1	12q13.2	2013-09-23			ENSG00000205328	ENSG00000205328		"""GPCR / Class A : Olfactory receptors"""	31295	protein-coding gene	gene with protein product							Standard	NM_001005518		Approved		uc010spl.2	A6NJZ3	OTTHUMG00000169955	ENST00000379665.2:c.685G>T	12.37:g.55794997G>T	ENSP00000368986:p.Ala229Ser		B2RNH9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.A229S	ENST00000379665.2	37	c.685	CCDS31821.1	12	.	.	.	.	.	.	.	.	.	.	G	11.08	1.532311	0.27387	.	.	ENSG00000205328	ENST00000379665	T	0.00174	8.62	3.71	1.85	0.25348	GPCR, rhodopsin-like superfamily (1);	0.198004	0.24513	U	0.037878	T	0.00144	0.0004	L	0.37800	1.135	0.09310	N	1	B	0.22211	0.066	B	0.29267	0.1	T	0.30090	-0.9990	10	0.48119	T	0.1	.	5.2554	0.15544	0.158:0.0:0.6749:0.167	.	229	A6NJZ3	O6C65_HUMAN	S	229	ENSP00000368986:A229S	ENSP00000368986:A229S	A	+	1	0	OR6C65	54081264	0.000000	0.05858	0.514000	0.27761	0.924000	0.55760	-0.294000	0.08309	0.367000	0.24454	0.424000	0.28305	GCC	OR6C65	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000205328		0.398	OR6C65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C65	HGNC	protein_coding	OTTHUMT00000406674.1		0.00	23	0	G			55794997	+1			no_errors	ENST00000379665	ensembl	human	known	74_37	missense	5.48	69	4	SNP	0.118	T
OR6K3	391114	genome.wustl.edu	37	1	158687373	158687373	+	Missense_Mutation	SNP	A	A	G			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr1:158687373A>G	ENST00000368146.1	-	1	580	c.581T>C	c.(580-582)tTc>tCc	p.F194S	OR6K3_ENST00000368145.1_Missense_Mutation_p.F178S			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	194						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(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					CAAGTCACAGAAGATCTGATG	0.488																																																	0													145.0	140.0	142.0					1																	158687373		2203	4300	6503	SO:0001583	missense	0			AB065633	CCDS30903.1, CCDS30903.2	1q23.1	2012-08-09			ENSG00000203757	ENSG00000203757		"""GPCR / Class A : Olfactory receptors"""	15030	protein-coding gene	gene with protein product							Standard	NM_001005327		Approved		uc021pbn.1	Q8NGY3	OTTHUMG00000022770	ENST00000368146.1:c.581T>C	1.37:g.158687373A>G	ENSP00000357128:p.Phe194Ser		Q5VUV0|Q6IFR5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F194S	ENST00000368146.1	37	c.581		1	.	.	.	.	.	.	.	.	.	.	A	18.54	3.646462	0.67358	.	.	ENSG00000203757	ENST00000368145;ENST00000368146	T;T	0.00258	8.41;8.41	3.67	3.67	0.42095	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00300	0.0009	M	0.86864	2.845	0.35320	D	0.784694	D	0.89917	1.0	D	0.97110	1.0	T	0.56366	-0.7991	9	0.87932	D	0	.	7.8868	0.29655	0.815:0.0:0.0:0.185	.	194	Q8NGY3	OR6K3_HUMAN	S	178;194	ENSP00000357127:F178S;ENSP00000357128:F194S	ENSP00000357127:F178S	F	-	2	0	OR6K3	156953997	0.992000	0.36948	1.000000	0.80357	0.939000	0.58152	0.499000	0.22546	1.647000	0.50633	0.338000	0.21704	TTC	OR6K3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000203757		0.488	OR6K3-201	KNOWN	basic	protein_coding	OR6K3	HGNC	protein_coding		-	0.00	14	0	A			158687373	-1	tier1	-	no_errors	ENST00000368146	ensembl	human	known	74_37	missense	32.14	19	9	SNP	1.000	G
OR6N1	128372	genome.wustl.edu	37	1	158735662	158735662	+	Missense_Mutation	SNP	C	C	T	rs150263738	byFrequency	TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr1:158735662C>T	ENST00000335094.2	-	1	830	c.811G>A	c.(811-813)Gac>Aac	p.D271N		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	271						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					AGGGCCTGGTCATAGTCCAGT	0.532																																																	0								C	ASN/ASP	2,4404	4.2+/-10.8	0,2,2201	184.0	172.0	176.0		811	4.9	1.0	1	dbSNP_134	176	0,8600		0,0,4300	yes	missense	OR6N1	NM_001005185.1	23	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	271/313	158735662	2,13004	2203	4300	6503	SO:0001583	missense	0			BK004199	CCDS30905.1	1q23.1	2012-08-09			ENSG00000197403	ENSG00000197403		"""GPCR / Class A : Olfactory receptors"""	15034	protein-coding gene	gene with protein product							Standard	NM_001005185		Approved		uc010piq.2	Q8NGY5	OTTHUMG00000022774	ENST00000335094.2:c.811G>A	1.37:g.158735662C>T	ENSP00000335535:p.Asp271Asn		Q5VUU8|Q96R35	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.D271N	ENST00000335094.2	37	c.811	CCDS30905.1	1	.	.	.	.	.	.	.	.	.	.	C	13.73	2.324585	0.41197	4.54E-4	0.0	ENSG00000197403	ENST00000335094	T	0.00216	8.53	4.94	4.94	0.65067	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48286	D	0.000183	T	0.00073	0.0002	L	0.43757	1.38	0.09310	N	0.999991	P	0.48162	0.906	P	0.45276	0.475	T	0.26258	-1.0108	10	0.52906	T	0.07	-18.7199	11.2214	0.48857	0.0:0.9119:0.0:0.088	.	271	Q8NGY5	OR6N1_HUMAN	N	271	ENSP00000335535:D271N	ENSP00000335535:D271N	D	-	1	0	OR6N1	157002286	0.000000	0.05858	0.999000	0.59377	0.680000	0.39746	0.548000	0.23314	2.538000	0.85594	0.655000	0.94253	GAC	OR6N1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000197403		0.532	OR6N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6N1	HGNC	protein_coding	OTTHUMT00000059067.1	-	0.00	49	0	C	NM_001005185		158735662	-1	tier1	rs150263738	no_errors	ENST00000335094	ensembl	human	known	74_37	missense	16.67	50	10	SNP	0.272	T
OR7C1	26664	genome.wustl.edu	37	19	14910316	14910316	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr19:14910316G>T	ENST00000248073.2	-	1	707	c.633C>A	c.(631-633)ttC>ttA	p.F211L	OR7A5_ENST00000601611.1_Intron	NM_198944.1	NP_945182.1	O76099	OR7C1_HUMAN	olfactory receptor, family 7, subfamily C, member 1	211					spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(2)|ovary(2)|prostate(1)	18						ATATTCCAGTGAAGGAAATCA	0.423																																																	0													56.0	57.0	57.0					19																	14910316		2203	4300	6503	SO:0001583	missense	0			X89676	CCDS12317.1	19p13.1	2012-08-09						"""GPCR / Class A : Olfactory receptors"""	8373	protein-coding gene	gene with protein product				OR7C4			Standard	NM_198944		Approved	OR19-5	uc010xnz.2	O76099		ENST00000248073.2:c.633C>A	19.37:g.14910316G>T	ENSP00000248073:p.Phe211Leu		Q15621|Q6IFP2|Q96R94	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F211L	ENST00000248073.2	37	c.633	CCDS12317.1	19	.	.	.	.	.	.	.	.	.	.	g	0.100	-1.154046	0.01700	.	.	ENSG00000127530	ENST00000248073	T	0.32988	1.43	3.64	-7.27	0.01461	GPCR, rhodopsin-like superfamily (1);	0.568503	0.13011	N	0.420826	T	0.08626	0.0214	N	0.05078	-0.115	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.25257	-1.0137	10	0.02654	T	1	.	6.6339	0.22872	0.4015:0.3491:0.2493:0.0	.	211	O76099	OR7C1_HUMAN	L	211	ENSP00000248073:F211L	ENSP00000248073:F211L	F	-	3	2	OR7C1	14771316	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.655000	0.00402	-2.279000	0.00676	-1.153000	0.01818	TTC	OR7C1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000127530		0.423	OR7C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR7C1	HGNC	protein_coding	OTTHUMT00000466519.1		0.00	31	0	G			14910316	-1			no_errors	ENST00000248073	ensembl	human	known	74_37	missense	5.56	34	2	SNP	0.000	T
OSER1	51526	genome.wustl.edu	37	20	42825850	42825850	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr20:42825850G>T	ENST00000372970.2	-	6	901	c.721C>A	c.(721-723)Ctg>Atg	p.L241M	OSER1_ENST00000255174.2_Missense_Mutation_p.L241M			Q9NX31	OSER1_HUMAN	oxidative stress responsive serine-rich 1	241					cellular response to hydrogen peroxide (GO:0070301)												CTGGCGTGCAGCGACTGAGAG	0.532																																																	0													123.0	107.0	113.0					20																	42825850		2203	4300	6503	SO:0001583	missense	0			AL035447	CCDS13327.1	20q13.11	2013-05-17	2013-05-17	2013-05-17	ENSG00000132823	ENSG00000132823			16105	protein-coding gene	gene with protein product	"""peroxide-inducible transcript 1"", ""oxidative stress-responsive 1"""		"""chromosome 20 open reading frame 111"""	C20orf111		17148688	Standard	NM_016470		Approved	dJ1183I21.1, HSPC207, Perit1, Osr1		Q9NX31	OTTHUMG00000032518	ENST00000372970.2:c.721C>A	20.37:g.42825850G>T	ENSP00000362061:p.Leu241Met		B2RCK4|O95912|Q9NZ84|Q9P0R8	Missense_Mutation	SNP	pfam_DUF776	p.L241M	ENST00000372970.2	37	c.721	CCDS13327.1	20	.	.	.	.	.	.	.	.	.	.	G	14.89	2.671618	0.47781	.	.	ENSG00000132823	ENST00000255174;ENST00000372970	T;T	0.50277	0.75;0.75	6.03	5.0	0.66597	.	0.533290	0.19568	N	0.111153	T	0.36496	0.0969	L	0.27053	0.805	0.39959	D	0.974645	P	0.50710	0.938	P	0.47470	0.548	T	0.29701	-1.0003	10	0.56958	D	0.05	-7.0448	4.0207	0.09664	0.3078:0.0:0.6922:0.0	.	241	Q9NX31	CT111_HUMAN	M	241	ENSP00000255174:L241M;ENSP00000362061:L241M	ENSP00000255174:L241M	L	-	1	2	C20orf111	42259264	0.912000	0.30974	0.990000	0.47175	0.696000	0.40369	1.863000	0.39459	2.861000	0.98227	0.655000	0.94253	CTG	OSER1	-	NULL	ENSG00000132823		0.532	OSER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	OSER1	HGNC	protein_coding	OTTHUMT00000079334.2		0.00	26	0	G	NM_016470		42825850	-1			no_errors	ENST00000255174	ensembl	human	known	74_37	missense	7.55	49	4	SNP	0.954	T
OTOGL	283310	genome.wustl.edu	37	12	80665587	80665587	+	Missense_Mutation	SNP	C	C	A			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr12:80665587C>A	ENST00000547103.1	+	23	2657	c.2651C>A	c.(2650-2652)cCa>cAa	p.P884Q	OTOGL_ENST00000458043.2_Missense_Mutation_p.P884Q			Q3ZCN5	OTOGL_HUMAN	otogelin-like	884					L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						GTTTGTGCTCCAGGGTAAGCC	0.428																																																	0													86.0	93.0	90.0					12																	80665587		1974	4130	6104	SO:0001583	missense	0			AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"""chromosome 12 open reading frame 64"""	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.2651C>A	12.37:g.80665587C>A	ENSP00000447211:p.Pro884Gln		F8W0C3|Q495U8|Q8N8G5|Q8NC28	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_AbfB,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	p.P884Q	ENST00000547103.1	37	c.2651		12	.	.	.	.	.	.	.	.	.	.	C	14.53	2.564326	0.45694	.	.	ENSG00000165899	ENST00000547103;ENST00000458043	T;T	0.30981	1.51;1.51	5.14	5.14	0.70334	.	.	.	.	.	T	0.37348	0.1000	L	0.46819	1.47	0.47153	D	0.999331	.	.	.	.	.	.	T	0.04078	-1.0979	7	0.08381	T	0.77	.	18.9681	0.92704	0.0:1.0:0.0:0.0	.	.	.	.	Q	884	ENSP00000447211:P884Q;ENSP00000400895:P884Q	ENSP00000400895:P884Q	P	+	2	0	OTOGL	79189718	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.007000	0.76335	2.551000	0.86045	0.655000	0.94253	CCA	OTOGL	-	superfamily_TIL_dom	ENSG00000165899		0.428	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	OTOGL	HGNC	protein_coding	OTTHUMT00000407438.1		0.00	26	0	C	NM_173591		80665587	+1			no_errors	ENST00000458043	ensembl	human	known	74_37	missense	5.41	70	4	SNP	1.000	A
OTUD7B	56957	genome.wustl.edu	37	1	149936185	149936185	+	Frame_Shift_Del	DEL	T	T	-			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr1:149936185delT	ENST00000369135.4	-	6	988	c.694delA	c.(694-696)aggfs	p.R233fs	OTUD7B_ENST00000479905.1_5'UTR	NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU deubiquitinase 7B	233	Catalytic.|OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.|TRAF-binding.				mucosal immune response (GO:0002385)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|DNA binding (GO:0003677)|Lys48-specific deubiquitinase activity (GO:1990380)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.R232G(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			CTCCAGCGCCTTTTCAACGCT	0.522																																																	1	Substitution - Missense(1)	large_intestine(1)											109.0	120.0	117.0					1																	149936185		2115	4244	6359	SO:0001589	frameshift_variant	0			AJ293573	CCDS72903.1	1q21.2	2014-02-24	2014-02-24	2006-07-07	ENSG00000163113	ENSG00000264522		"""OTU domain containing"""	16683	protein-coding gene	gene with protein product		611748	"""zinc finger, A20 domain containing 1"", ""OTU domain containing 7B"""	ZA20D1		11463333, 23827681	Standard	NM_020205		Approved	CEZANNE	uc001etn.3	Q6GQQ9	OTTHUMG00000012291	ENST00000369135.4:c.694delA	1.37:g.149936185delT	ENSP00000358131:p.Arg233fs		B7Z643|D3DUZ8|Q5SZ60|Q8WWA7|Q9NQ53|Q9UFF4	Frame_Shift_Del	DEL	pfam_OTU,superfamily_UBA-like,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20	p.R232fs	ENST00000369135.4	37	c.694	CCDS41389.1	1																																																																																			OTUD7B	-	pfam_OTU,pfscan_OTU	ENSG00000163113		0.522	OTUD7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTUD7B	HGNC	protein_coding	OTTHUMT00000034146.3		0.00	34	0	T	NM_020205		149936185	-1	tier1		no_errors	ENST00000369135	ensembl	human	known	74_37	frame_shift_del	9.52	38	4	DEL	1.000	-
OTUD7B	56957	genome.wustl.edu	37	1	149936261	149936261	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr1:149936261G>T	ENST00000369135.4	-	6	912	c.618C>A	c.(616-618)ttC>ttA	p.F206L	OTUD7B_ENST00000479905.1_5'UTR	NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU deubiquitinase 7B	206	Catalytic.|OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.|TRAF-binding.				mucosal immune response (GO:0002385)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|DNA binding (GO:0003677)|Lys48-specific deubiquitinase activity (GO:1990380)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			CCCGATCATGGAAACCCCACA	0.458																																																	0													93.0	95.0	94.0					1																	149936261		2006	4190	6196	SO:0001583	missense	0			AJ293573	CCDS72903.1	1q21.2	2014-02-24	2014-02-24	2006-07-07	ENSG00000163113	ENSG00000264522		"""OTU domain containing"""	16683	protein-coding gene	gene with protein product		611748	"""zinc finger, A20 domain containing 1"", ""OTU domain containing 7B"""	ZA20D1		11463333, 23827681	Standard	NM_020205		Approved	CEZANNE	uc001etn.3	Q6GQQ9	OTTHUMG00000012291	ENST00000369135.4:c.618C>A	1.37:g.149936261G>T	ENSP00000358131:p.Phe206Leu		B7Z643|D3DUZ8|Q5SZ60|Q8WWA7|Q9NQ53|Q9UFF4	Missense_Mutation	SNP	pfam_OTU,superfamily_UBA-like,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20	p.F206L	ENST00000369135.4	37	c.618	CCDS41389.1	1	.	.	.	.	.	.	.	.	.	.	G	17.99	3.523885	0.64747	.	.	ENSG00000163113	ENST00000369135;ENST00000543330;ENST00000417191	T;T	0.29917	1.55;1.55	4.87	2.97	0.34412	Ovarian tumour, otubain (2);	0.000000	0.85682	D	0.000000	T	0.39886	0.1095	M	0.78049	2.395	0.54753	D	0.999989	D;P	0.76494	0.999;0.95	D;P	0.79108	0.992;0.895	T	0.32052	-0.9921	9	.	.	.	-23.2464	8.0516	0.30581	0.2558:0.0:0.7442:0.0	.	206;206	B7Z643;Q6GQQ9	.;OTU7B_HUMAN	L	206	ENSP00000358131:F206L;ENSP00000408231:F206L	.	F	-	3	2	OTUD7B	148202885	0.998000	0.40836	1.000000	0.80357	0.993000	0.82548	0.408000	0.21065	0.754000	0.32968	0.655000	0.94253	TTC	OTUD7B	-	pfam_OTU,pfscan_OTU	ENSG00000163113		0.458	OTUD7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTUD7B	HGNC	protein_coding	OTTHUMT00000034146.3		0.00	24	0	G	NM_020205		149936261	-1			no_errors	ENST00000369135	ensembl	human	known	74_37	missense	5.56	51	3	SNP	1.000	T
OTX2	5015	genome.wustl.edu	37	14	57270953	57270953	+	Nonsense_Mutation	SNP	G	G	A			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr14:57270953G>A	ENST00000555006.1	-	3	610	c.202C>T	c.(202-204)Cga>Tga	p.R68*	OTX2_ENST00000408990.3_Nonsense_Mutation_p.R68*|OTX2_ENST00000554559.1_Intron|OTX2_ENST00000339475.5_Nonsense_Mutation_p.R76*|OTX2_ENST00000554788.1_Intron			P32243	OTX2_HUMAN	orthodenticle homeobox 2	68					axon guidance (GO:0007411)|cell fate specification (GO:0001708)|diencephalon morphogenesis (GO:0048852)|dorsal/ventral pattern formation (GO:0009953)|endoderm development (GO:0007492)|eye photoreceptor cell fate commitment (GO:0042706)|forebrain development (GO:0030900)|inner ear morphogenesis (GO:0042472)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|neuron fate determination (GO:0048664)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primitive streak formation (GO:0090009)|protein complex assembly (GO:0006461)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of smoothened signaling pathway (GO:0008589)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|nucleus (GO:0005634)|protein complex (GO:0043234)	eukaryotic initiation factor 4E binding (GO:0008190)|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)	p.R76*(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					ACCTCCTCTCGCATGAAGATG	0.597																																																	1	Substitution - Nonsense(1)	large_intestine(1)											92.0	75.0	81.0					14																	57270953		2203	4300	6503	SO:0001587	stop_gained	0			AF298117	CCDS9728.1, CCDS41960.1	14q22.3	2014-09-17	2007-02-15		ENSG00000165588	ENSG00000165588		"""Homeoboxes / PRD class"""	8522	protein-coding gene	gene with protein product		600037	"""orthodenticle homolog 2 (Drosophila)"""			7959790	Standard	NM_021728		Approved		uc031qor.1	P32243	OTTHUMG00000152338	ENST00000555006.1:c.202C>T	14.37:g.57270953G>A	ENSP00000452336:p.Arg68*		B2RAN5|Q6GTV3|Q9HAW3|Q9P2R1	Nonsense_Mutation	SNP	pfam_Otx_TF_C,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Otx2_TF,prints_Otx_TF	p.R76*	ENST00000555006.1	37	c.226	CCDS41960.1	14	.	.	.	.	.	.	.	.	.	.	G	38	6.960437	0.97964	.	.	ENSG00000165588	ENST00000339475;ENST00000408990;ENST00000555006;ENST00000554845;ENST00000555804	.	.	.	5.73	3.84	0.44239	.	0.000000	0.40064	N	0.001188	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.0722	0.53624	0.0:0.0:0.5502:0.4498	.	.	.	.	X	76;68;68;76;68	.	ENSP00000343819:R76X	R	-	1	2	OTX2	56340706	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.649000	0.61433	0.711000	0.32018	0.655000	0.94253	CGA	OTX2	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	ENSG00000165588		0.597	OTX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	OTX2	HGNC	protein_coding	OTTHUMT00000411522.1		0.00	57	0	G	NM_021728.		57270953	-1			no_errors	ENST00000339475	ensembl	human	known	74_37	nonsense	8.70	21	2	SNP	1.000	A
PABPC3	5042	genome.wustl.edu	37	13	25670851	25670851	+	Missense_Mutation	SNP	A	A	G	rs75475407	byFrequency	TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr13:25670851A>G	ENST00000281589.3	+	1	552	c.515A>G	c.(514-516)cAa>cGa	p.Q172R		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	172	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		TTTGTTGGACAATTTAAGTCT	0.393													g|||	253	0.0505192	0.0719	0.0576	5008	,	,		22064	0.0268		0.0318	False		,,,				2504	0.0603																0													110.0	104.0	106.0					13																	25670851		2203	4300	6503	SO:0001583	missense	0			AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"""RNA binding motif (RRM) containing"""	8556	protein-coding gene	gene with protein product	"""testis PABP"""	604680	"""poly(A)-binding protein, cytoplasmic 3"""	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.515A>G	13.37:g.25670851A>G	ENSP00000281589:p.Gln172Arg		Q8NHV0|Q9H086	Missense_Mutation	SNP	pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234	p.Q172R	ENST00000281589.3	37	c.515	CCDS9311.1	13	.	.	.	.	.	.	.	.	.	.	A	0.065	-1.215282	0.01542	.	.	ENSG00000151846	ENST00000281589	T	0.75704	-0.96	0.828	-0.101	0.13618	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.358703	0.18389	N	0.142734	T	0.42877	0.1222	N	0.10664	0.02	0.21841	N	0.99951	B	0.02656	0.0	B	0.01281	0.0	T	0.34079	-0.9843	10	0.02654	T	1	.	5.2926	0.15735	0.2365:0.0:0.7635:0.0	.	172	Q9H361	PABP3_HUMAN	R	172	ENSP00000281589:Q172R	ENSP00000281589:Q172R	Q	+	2	0	PABPC3	24568851	1.000000	0.71417	0.921000	0.36526	0.168000	0.22595	4.799000	0.62517	-0.074000	0.12820	-0.769000	0.03391	CAA	PABPC3	-	pfscan_RRM_dom,tigrfam_PABP_1234	ENSG00000151846		0.393	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PABPC3	HGNC	protein_coding	OTTHUMT00000044220.2		0.00	22	0	A	NM_030979		25670851	+1			no_errors	ENST00000281589	ensembl	human	known	74_37	missense	5.88	64	4	SNP	1.000	G
PAIP1	10605	genome.wustl.edu	37	5	43547975	43547975	+	Nonsense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr5:43547975G>T	ENST00000306846.3	-	3	708	c.476C>A	c.(475-477)tCa>tAa	p.S159*	PAIP1_ENST00000338972.4_Nonsense_Mutation_p.S47*|PAIP1_ENST00000436644.2_Nonsense_Mutation_p.S80*|PAIP1_ENST00000514514.1_Nonsense_Mutation_p.S80*	NM_006451.4|NM_182789.3	NP_006442.2|NP_877590.1	Q9H074	PAIP1_HUMAN	poly(A) binding protein interacting protein 1	159	MIF4G.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	RNA binding (GO:0003723)|translation activator activity (GO:0008494)	p.S159*(1)		endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Lung NSC(6;2.07e-05)					AACATATTCTGATAGAGTAGG	0.368																																																	1	Substitution - Nonsense(1)	urinary_tract(1)											70.0	69.0	69.0					5																	43547975		2203	4300	6503	SO:0001587	stop_gained	0			AF013758	CCDS3947.1, CCDS3948.1, CCDS47204.1	5p12	2008-02-05			ENSG00000172239	ENSG00000172239			16945	protein-coding gene	gene with protein product		605184				9548260, 11230166	Standard	NM_006451		Approved		uc003job.3	Q9H074	OTTHUMG00000096960	ENST00000306846.3:c.476C>A	5.37:g.43547975G>T	ENSP00000302768:p.Ser159*		A6NKV8|O60455|Q96B61|Q9BS63	Nonsense_Mutation	SNP	pfam_MIF4G-like_typ-3,pfam_Ataxin-2_C,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3	p.S159*	ENST00000306846.3	37	c.476	CCDS3947.1	5	.	.	.	.	.	.	.	.	.	.	G	21.7	4.184817	0.78677	.	.	ENSG00000172239	ENST00000306846;ENST00000436644;ENST00000338972;ENST00000514514;ENST00000511321;ENST00000508537;ENST00000515338	.	.	.	5.59	4.69	0.59074	.	0.192138	0.44285	D	0.000477	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	-2.9878	16.5651	0.84577	0.0:0.13:0.87:0.0	.	.	.	.	X	159;80;47;80;47;47;47	.	ENSP00000302768:S159X	S	-	2	0	PAIP1	43583732	1.000000	0.71417	0.993000	0.49108	0.919000	0.55068	6.332000	0.72934	2.628000	0.89032	0.655000	0.94253	TCA	PAIP1	-	superfamily_ARM-type_fold,smart_MIF4G-like_typ-3	ENSG00000172239		0.368	PAIP1-001	KNOWN	basic|CCDS	protein_coding	PAIP1	HGNC	protein_coding	OTTHUMT00000214024.1		0.00	23	0	G	NM_006451		43547975	-1			no_errors	ENST00000306846	ensembl	human	known	74_37	nonsense	5.56	51	3	SNP	0.996	T
PAPPA	5069	genome.wustl.edu	37	9	118974036	118974036	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr9:118974036G>T	ENST00000328252.3	+	4	2112	c.1743G>T	c.(1741-1743)caG>caT	p.Q581H	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	581	Metalloprotease.				cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CAGAAATCCAGTCCTGCAGTG	0.552																																																	0													140.0	119.0	126.0					9																	118974036		2203	4300	6503	SO:0001583	missense	0				CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"""insulin-like growth factor-dependent IGF binding protein-4 protease"", ""aspecific BCL2 ARE-binding protein 2"", ""differentially placenta 1 expressed protein"""	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.1743G>T	9.37:g.118974036G>T	ENSP00000330658:p.Gln581His		B1AMF9|Q08371|Q68G52|Q9UDK7	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,pfam_Notch_dom,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt	p.Q581H	ENST00000328252.3	37	c.1743	CCDS6813.1	9	.	.	.	.	.	.	.	.	.	.	G	19.52	3.843089	0.71488	.	.	ENSG00000182752	ENST00000328252	T	0.01887	4.58	5.64	4.75	0.60458	Peptidase M43, pregnancy-associated plasma-A (1);Metallopeptidase, catalytic domain (1);	0.151020	0.64402	D	0.000016	T	0.06917	0.0176	L	0.43923	1.385	0.80722	D	1	D	0.62365	0.991	D	0.63381	0.914	T	0.15838	-1.0423	10	0.87932	D	0	-17.5558	11.4297	0.50032	0.0683:0.1255:0.8062:0.0	.	581	Q13219	PAPP1_HUMAN	H	581	ENSP00000330658:Q581H	ENSP00000330658:Q581H	Q	+	3	2	PAPPA	118013857	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	0.950000	0.29122	1.531000	0.49152	0.561000	0.74099	CAG	PAPPA	-	pfam_Peptidase_M43	ENSG00000182752		0.552	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPPA	HGNC	protein_coding	OTTHUMT00000055546.1		0.00	48	0	G	NM_002581		118974036	+1			no_errors	ENST00000328252	ensembl	human	known	74_37	missense	6.45	58	4	SNP	1.000	T
PCDH8	5100	genome.wustl.edu	37	13	53421446	53421446	+	Missense_Mutation	SNP	C	C	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr13:53421446C>T	ENST00000377942.3	-	1	1329	c.1126G>A	c.(1126-1128)Gcc>Acc	p.A376T	PCDH8_ENST00000338862.4_Missense_Mutation_p.A376T	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	376					cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|morphogenesis of embryonic epithelium (GO:0016331)|somitogenesis (GO:0001756)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		AGTGCAGCGGCGGCGGCGGCA	0.761																																					GBM(36;25 841 9273 49207)												0													3.0	4.0	4.0					13																	53421446		1301	2664	3965	SO:0001583	missense	0			AF061573	CCDS9438.1, CCDS9439.1	13q21.1	2010-02-22			ENSG00000136099	ENSG00000136099		"""Cadherins / Protocadherins : Non-clustered"""	8660	protein-coding gene	gene with protein product		603580				9787079, 9315676	Standard	NM_002590		Approved	PAPC, ARCADLIN	uc001vhi.3	O95206	OTTHUMG00000016979	ENST00000377942.3:c.1126G>A	13.37:g.53421446C>T	ENSP00000367177:p.Ala376Thr		B4DMV7|Q5TAN1|Q5TAN2|Q8IYE9|Q96SF1	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A376T	ENST00000377942.3	37	c.1126	CCDS9438.1	13	.	.	.	.	.	.	.	.	.	.	C	14.89	2.670555	0.47781	.	.	ENSG00000136099	ENST00000377942;ENST00000338862	T;T	0.51817	0.71;0.69	4.19	3.3	0.37823	.	0.391887	0.18520	N	0.138788	T	0.31670	0.0804	N	0.08118	0	0.31213	N	0.698384	D;D	0.63046	0.989;0.992	P;B	0.45753	0.492;0.384	T	0.41124	-0.9526	10	0.87932	D	0	.	12.4919	0.55905	0.1667:0.8333:0.0:0.0	.	376;376	O95206-2;O95206	.;PCDH8_HUMAN	T	376	ENSP00000367177:A376T;ENSP00000341350:A376T	ENSP00000341350:A376T	A	-	1	0	PCDH8	52319447	0.869000	0.29996	0.901000	0.35422	0.045000	0.14185	-0.422000	0.07043	2.158000	0.67659	0.561000	0.74099	GCC	PCDH8	-	NULL	ENSG00000136099		0.761	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH8	HGNC	protein_coding	OTTHUMT00000045108.2		0.00	14	0	C	NM_002590		53421446	-1			no_errors	ENST00000377942	ensembl	human	known	74_37	missense	50.00	3	3	SNP	0.952	T
PCK1	5105	genome.wustl.edu	37	20	56138620	56138620	+	Splice_Site	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr20:56138620G>T	ENST00000319441.4	+	6	962		c.e6-1		PCK1_ENST00000535860.1_Splice_Site|PCK1_ENST00000543666.1_Intron	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)						carbohydrate metabolic process (GO:0005975)|drug metabolic process (GO:0017144)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycerol biosynthetic process from pyruvate (GO:0046327)|internal protein amino acid acetylation (GO:0006475)|oxaloacetate metabolic process (GO:0006107)|response to activity (GO:0014823)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxylic acid binding (GO:0031406)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)	p.?(1)		endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			GTCCCCAACAGATTCTGGGTA	0.522																																																	1	Unknown(1)	lung(1)											55.0	56.0	55.0					20																	56138620		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS13460.1	20q13.31	2007-11-06			ENSG00000124253	ENSG00000124253	4.1.1.32		8724	protein-coding gene	gene with protein product		614168				1492743	Standard	NM_002591		Approved	PEPCK-C	uc002xyn.4	P35558	OTTHUMG00000032825	ENST00000319441.4:c.799-1G>T	20.37:g.56138620G>T			A8K437|B4DT64|Q8TCA3|Q9UJD2	Splice_Site	SNP	-	e5-1	ENST00000319441.4	37	c.799-1	CCDS13460.1	20	.	.	.	.	.	.	.	.	.	.	G	15.86	2.958588	0.53400	.	.	ENSG00000124253	ENST00000319441;ENST00000535860	.	.	.	5.43	5.43	0.79202	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2569	0.93949	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PCK1	55572026	1.000000	0.71417	1.000000	0.80357	0.477000	0.33069	9.338000	0.96553	2.561000	0.86390	0.561000	0.74099	.	PCK1	-	-	ENSG00000124253		0.522	PCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCK1	HGNC	protein_coding	OTTHUMT00000079851.2	-	0.00	66	0	G		Intron	56138620	+1	tier1	-	no_errors	ENST00000319441	ensembl	human	known	74_37	splice_site	5.48	69	4	SNP	1.000	T
PDZD2	23037	genome.wustl.edu	37	5	31983752	31983752	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr5:31983752G>T	ENST00000438447.1	+	3	1356	c.968G>T	c.(967-969)tGc>tTc	p.C323F	PDZD2_ENST00000282493.3_Missense_Mutation_p.C323F			O15018	PDZD2_HUMAN	PDZ domain containing 2	323					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TCGAGTGACTGCCTGGCACGG	0.463																																																	0													86.0	90.0	88.0					5																	31983752		2200	4300	6500	SO:0001583	missense	0			AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.968G>T	5.37:g.31983752G>T	ENSP00000402033:p.Cys323Phe		Q9BXD4	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.C323F	ENST00000438447.1	37	c.968	CCDS34137.1	5	.	.	.	.	.	.	.	.	.	.	G	14.87	2.664131	0.47572	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.06608	3.28;3.28	5.68	3.64	0.41730	PDZ/DHR/GLGF (1);	0.132632	0.35466	N	0.003192	T	0.06781	0.0173	L	0.27053	0.805	0.31472	N	0.668232	P;D	0.61080	0.93;0.989	P;P	0.55087	0.564;0.768	T	0.10847	-1.0612	10	0.10377	T	0.69	.	4.8656	0.13607	0.1325:0.2213:0.6462:0.0	.	149;323	B4E3P2;O15018	.;PDZD2_HUMAN	F	323	ENSP00000402033:C323F;ENSP00000282493:C323F	ENSP00000282493:C323F	C	+	2	0	PDZD2	32019509	0.998000	0.40836	1.000000	0.80357	0.359000	0.29487	1.750000	0.38329	1.380000	0.46344	0.650000	0.86243	TGC	PDZD2	-	superfamily_PDZ	ENSG00000133401		0.463	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD2	HGNC	protein_coding	OTTHUMT00000366608.1		0.00	20	0	G			31983752	+1			no_errors	ENST00000282493	ensembl	human	known	74_37	missense	10.00	36	4	SNP	1.000	T
PEX14	5195	genome.wustl.edu	37	1	10659345	10659345	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr1:10659345G>T	ENST00000356607.4	+	4	300	c.220G>T	c.(220-222)Gcc>Tcc	p.A74S	PEX14_ENST00000538836.1_Missense_Mutation_p.A10S	NM_004565.2	NP_004556.1	O75381	PEX14_HUMAN	peroxisomal biogenesis factor 14	74					microtubule anchoring (GO:0034453)|negative regulation of protein binding (GO:0032091)|negative regulation of protein homotetramerization (GO:1901094)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peroxisome organization (GO:0007031)|peroxisome transport along microtubule (GO:0036250)|protein complex assembly (GO:0006461)|protein homooligomerization (GO:0051260)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, substrate release (GO:0044721)|protein import into peroxisome matrix, translocation (GO:0016561)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|protein N-terminus binding (GO:0047485)|receptor binding (GO:0005102)|transcription corepressor activity (GO:0003714)			breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)		GGGCACTGCTGCCGATGAGCC	0.557																																																	0													107.0	95.0	99.0					1																	10659345		2203	4300	6503	SO:0001583	missense	0			AF045186	CCDS30582.1	1p36.22	2008-05-14			ENSG00000142655	ENSG00000142655			8856	protein-coding gene	gene with protein product		601791				9653144	Standard	NM_004565		Approved		uc001arn.3	O75381	OTTHUMG00000001908	ENST00000356607.4:c.220G>T	1.37:g.10659345G>T	ENSP00000349016:p.Ala74Ser		B2R7N1|B3KML6|B7Z1N2|Q8WX51	Missense_Mutation	SNP	pfam_Pex14_N	p.A74S	ENST00000356607.4	37	c.220	CCDS30582.1	1	.	.	.	.	.	.	.	.	.	.	G	10.21	1.287208	0.23478	.	.	ENSG00000142655	ENST00000356607;ENST00000538836	T;T	0.28069	1.63;1.63	6.05	4.18	0.49190	Peroxisome membrane anchor protein Pex14p, N-terminal (1);	0.320831	0.37955	N	0.001873	T	0.12774	0.0310	N	0.11000	0.08	0.28257	N	0.924994	B	0.17268	0.021	B	0.18871	0.023	T	0.24764	-1.0151	10	0.11794	T	0.64	.	4.2514	0.10696	0.1341:0.1268:0.6076:0.1315	.	74	O75381	PEX14_HUMAN	S	74;10	ENSP00000349016:A74S;ENSP00000444877:A10S	ENSP00000349016:A74S	A	+	1	0	PEX14	10581932	0.102000	0.21896	0.394000	0.26270	0.919000	0.55068	0.213000	0.17521	0.870000	0.35726	0.650000	0.86243	GCC	PEX14	-	pfam_Pex14_N	ENSG00000142655		0.557	PEX14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEX14	HGNC	protein_coding	OTTHUMT00000005414.1		0.00	58	0	G			10659345	+1			no_errors	ENST00000356607	ensembl	human	known	74_37	missense	5.56	34	2	SNP	0.748	T
PFKFB2	5208	genome.wustl.edu	37	1	207244561	207244561	+	Silent	SNP	C	C	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr1:207244561C>T	ENST00000367080.3	+	13	1375	c.1251C>T	c.(1249-1251)ctC>ctT	p.L417L	PFKFB2_ENST00000367079.2_Silent_p.L417L|PFKFB2_ENST00000473310.1_Intron|PFKFB2_ENST00000545806.1_Silent_p.L384L|PFKFB2_ENST00000541914.1_Intron|PFKFB2_ENST00000411990.2_Silent_p.L319L	NM_006212.2	NP_006203.2	O60825	F262_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2	417	Fructose-2,6-bisphosphatase.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|glucose catabolic process (GO:0006007)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|lactate metabolic process (GO:0006089)|positive regulation of glucokinase activity (GO:0033133)|positive regulation of insulin secretion (GO:0032024)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)|protein kinase binding (GO:0019901)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	20	Prostate(682;0.19)					GATGCCCTCTCCATACCATCT	0.448																																																	0													171.0	158.0	162.0					1																	207244561		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS31003.1, CCDS31004.1	1q31-q32.2	2012-07-13			ENSG00000123836	ENSG00000123836	2.7.1.105, 3.1.3.46		8873	protein-coding gene	gene with protein product		171835					Standard	XM_005273162		Approved		uc001hfg.3	O60825	OTTHUMG00000036033	ENST00000367080.3:c.1251C>T	1.37:g.207244561C>T			O60824|Q5VVQ3|Q5VVQ4|Q9H3P1	Silent	SNP	pfam_6Phosfructo_kin,pfam_His_Pase_superF_clade-1,pfam_Chromatin_KTI12,superfamily_P-loop_NTPase,smart_His_Pase_superF_clade-1,pirsf_Bifunct_6PFK/fruc_bisP_Ptase,prints_6Pfruct_kin	p.L417	ENST00000367080.3	37	c.1251	CCDS31004.1	1																																																																																			PFKFB2	-	pirsf_Bifunct_6PFK/fruc_bisP_Ptase	ENSG00000123836		0.448	PFKFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PFKFB2	HGNC	protein_coding	OTTHUMT00000087838.1	-	0.00	18	0	C			207244561	+1	tier1	-	no_errors	ENST00000367080	ensembl	human	known	74_37	silent	45.24	23	19	SNP	0.986	T
PHAX	51808	genome.wustl.edu	37	5	125960471	125960471	+	Nonsense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr5:125960471G>T	ENST00000297540.4	+	5	1815	c.1120G>T	c.(1120-1122)Gaa>Taa	p.E374*		NM_032177.3	NP_115553.2	Q9H814	PHAX_HUMAN	phosphorylated adaptor for RNA export	374					gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|protein transport (GO:0015031)|RNA metabolic process (GO:0016070)|snRNA export from nucleus (GO:0006408)|spliceosomal snRNP assembly (GO:0000387)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA binding (GO:0003723)|toxic substance binding (GO:0015643)	p.E374K(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	8						AGGACATGCAGAAGCCAAGTT	0.408																																																	1	Substitution - Missense(1)	lung(1)											103.0	104.0	104.0					5																	125960471		2203	4300	6503	SO:0001587	stop_gained	0			AK023255	CCDS4138.1	5q23.2	2011-05-24	2008-10-01	2008-10-01	ENSG00000164902	ENSG00000164902			10241	protein-coding gene	gene with protein product		604924	"""RNA U, small nuclear RNA export adaptor (phosphorylation regulated)"""	RNUXA		10786834	Standard	NM_032177		Approved	FLJ13193	uc003kua.2	Q9H814	OTTHUMG00000163273	ENST00000297540.4:c.1120G>T	5.37:g.125960471G>T	ENSP00000297540:p.Glu374*		Q9H8W1	Nonsense_Mutation	SNP	pfam_PHAX_RNA-binding_domain	p.E374*	ENST00000297540.4	37	c.1120	CCDS4138.1	5	.	.	.	.	.	.	.	.	.	.	G	44	10.715656	0.99455	.	.	ENSG00000164902	ENST00000297540	.	.	.	5.62	5.62	0.85841	.	0.056196	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-17.8201	19.6676	0.95898	0.0:0.0:1.0:0.0	.	.	.	.	X	374	.	ENSP00000297540:E374X	E	+	1	0	PHAX	125988370	1.000000	0.71417	0.613000	0.29037	0.910000	0.53928	8.796000	0.91877	2.656000	0.90262	0.563000	0.77884	GAA	PHAX	-	NULL	ENSG00000164902		0.408	PHAX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHAX	HGNC	protein_coding	OTTHUMT00000250924.1		0.00	8	0	G	NM_032177		125960471	+1			no_errors	ENST00000297540	ensembl	human	known	74_37	nonsense	6.98	40	3	SNP	0.981	T
JADE1	79960	genome.wustl.edu	37	4	129767562	129767562	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr4:129767562G>T	ENST00000226319.6	+	4	451	c.171G>T	c.(169-171)aaG>aaT	p.K57N	PHF17_ENST00000452328.2_Missense_Mutation_p.K57N|PHF17_ENST00000512960.1_Missense_Mutation_p.K57N|PHF17_ENST00000511647.1_Missense_Mutation_p.K57N|PHF17_ENST00000413543.2_Missense_Mutation_p.K57N	NM_199320.2	NP_955352.1														NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						CTGCCATGAAGTTGCATGACT	0.507																																																	0													195.0	178.0	184.0					4																	129767562		2203	4300	6503	SO:0001583	missense	0																														ENST00000226319.6:c.171G>T	4.37:g.129767562G>T	ENSP00000226319:p.Lys57Asn			Missense_Mutation	SNP	pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.K57N	ENST00000226319.6	37	c.171	CCDS34062.1	4	.	.	.	.	.	.	.	.	.	.	G	18.40	3.615817	0.66672	.	.	ENSG00000077684	ENST00000226319;ENST00000511647;ENST00000452328;ENST00000504089;ENST00000512960;ENST00000503785;ENST00000535321;ENST00000510308;ENST00000413543;ENST00000507833;ENST00000508997	T;T;T;T;T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88	4.68	3.84	0.44239	Enhancer of polycomb-like, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.63628	0.2527	M	0.85859	2.78	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;1.0	T	0.65668	-0.6112	9	.	.	.	.	7.8757	0.29592	0.2466:0.0:0.7534:0.0	.	57;57;57	Q6IE81-2;Q6IE81;Q6IE81-3	.;JADE1_HUMAN;.	N	57	ENSP00000226319:K57N;ENSP00000423737:K57N;ENSP00000388015:K57N;ENSP00000426590:K57N;ENSP00000425730:K57N;ENSP00000422445:K57N;ENSP00000421265:K57N;ENSP00000404211:K57N;ENSP00000424280:K57N;ENSP00000425535:K57N	.	K	+	3	2	PHF17	129987012	1.000000	0.71417	0.923000	0.36655	0.990000	0.78478	3.246000	0.51414	1.186000	0.42985	0.561000	0.74099	AAG	PHF17	-	pfam_Enhancer_polycomb-like_N	ENSG00000077684		0.507	PHF17-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PHF17	HGNC	protein_coding	OTTHUMT00000364280.1	-	0.00	36	0	G			129767562	+1	tier1	-	no_errors	ENST00000226319	ensembl	human	known	74_37	missense	7.14	52	4	SNP	0.909	T
PHTF1	10745	genome.wustl.edu	37	1	114255944	114255944	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr1:114255944G>T	ENST00000369604.1	-	8	1223	c.740C>A	c.(739-741)aCa>aAa	p.T247K	PHTF1_ENST00000393357.2_Missense_Mutation_p.T247K|PHTF1_ENST00000369598.1_Missense_Mutation_p.T202K|PHTF1_ENST00000357783.2_Missense_Mutation_p.T247K|PHTF1_ENST00000369600.1_Missense_Mutation_p.T194K|PHTF1_ENST00000369596.2_Missense_Mutation_p.T194K|PHTF1_ENST00000447664.2_Intron|PHTF1_ENST00000474926.1_5'UTR			Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	247					transcription, DNA-templated (GO:0006351)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTTCTCTCTTGTTTGCCACAT	0.373																																																	0													159.0	155.0	157.0					1																	114255944		2203	4300	6503	SO:0001583	missense	0			AJ011863	CCDS861.1	1p13-p11	2008-07-18			ENSG00000116793	ENSG00000116793			8939	protein-coding gene	gene with protein product		604950		PHTF		10395808	Standard	NM_006608		Approved		uc009wgp.1	Q9UMS5	OTTHUMG00000011800	ENST00000369604.1:c.740C>A	1.37:g.114255944G>T	ENSP00000358617:p.Thr247Lys		Q5VWP7|Q5VWP8|Q9BUP2|Q9H1X8	Missense_Mutation	SNP	pfam_TF_homeodomain_male	p.T247K	ENST00000369604.1	37	c.740	CCDS861.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.50|11.50	1.657090|1.657090	0.29425|0.29425	.|.	.|.	ENSG00000116793|ENSG00000116793	ENST00000412670|ENST00000369597;ENST00000393357;ENST00000369596;ENST00000369598;ENST00000369600;ENST00000369604;ENST00000357783	.|.	.|.	.|.	5.55|5.55	-0.276|-0.276	0.12902|0.12902	.|.	.|0.903436	.|0.09534	.|N	.|0.789116	T|T	0.04634|0.04634	0.0126|0.0126	N|N	0.03608|0.03608	-0.345|-0.345	0.09310|0.09310	N|N	1|1	.|B;B;B;B	.|0.09022	.|0.0;0.0;0.002;0.0	.|B;B;B;B	.|0.08055	.|0.001;0.0;0.003;0.002	T|T	0.36578|0.36578	-0.9742|-0.9742	5|9	.|0.56958	.|D	.|0.05	-0.0037|-0.0037	2.6122|2.6122	0.04894|0.04894	0.1374:0.1163:0.3886:0.3577|0.1374:0.1163:0.3886:0.3577	.|.	.|202;247;2;247	.|F5H7M5;Q9UMS5;Q5TCR1;Q9UMS5-2	.|.;PHTF1_HUMAN;.;.	K|K	3|202;247;194;202;194;247;247	.|.	.|ENSP00000350428:T247K	Q|T	-|-	1|2	0|0	PHTF1|PHTF1	114057467|114057467	0.290000|0.290000	0.24343|0.24343	0.281000|0.281000	0.24762|0.24762	0.992000|0.992000	0.81027|0.81027	0.400000|0.400000	0.20932|0.20932	-0.009000|-0.009000	0.14296|0.14296	0.467000|0.467000	0.42956|0.42956	CAA|ACA	PHTF1	-	NULL	ENSG00000116793		0.373	PHTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHTF1	HGNC	protein_coding	OTTHUMT00000032666.1		0.00	19	0	G	NM_006608		114255944	-1			no_errors	ENST00000369604	ensembl	human	known	74_37	missense	5.97	63	4	SNP	0.009	T
PKHD1L1	93035	genome.wustl.edu	37	8	110393634	110393634	+	Missense_Mutation	SNP	G	G	A			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr8:110393634G>A	ENST00000378402.5	+	3	303	c.199G>A	c.(199-201)Gat>Aat	p.D67N		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	67	IPT/TIG 1.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.D67N(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CTATGGAGTTGATAACGCTGA	0.328										HNSCC(38;0.096)																																							1	Substitution - Missense(1)	cervix(1)											60.0	58.0	59.0					8																	110393634		1821	4072	5893	SO:0001583	missense	0			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.199G>A	8.37:g.110393634G>A	ENSP00000367655:p.Asp67Asn		Q567P2|Q9UF27	Missense_Mutation	SNP	pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1	p.D67N	ENST00000378402.5	37	c.199	CCDS47911.1	8	.	.	.	.	.	.	.	.	.	.	G	11.11	1.543274	0.27563	.	.	ENSG00000205038	ENST00000378402	T	0.76448	-1.02	6.16	5.26	0.73747	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.188029	0.46145	D	0.000301	T	0.63462	0.2513	N	0.17674	0.51	0.24537	N	0.994086	B	0.13594	0.008	B	0.20955	0.032	T	0.36915	-0.9728	10	0.10111	T	0.7	.	15.5091	0.75766	0.0:0.1378:0.8622:0.0	.	67	Q86WI1	PKHL1_HUMAN	N	67	ENSP00000367655:D67N	ENSP00000367655:D67N	D	+	1	0	PKHD1L1	110462810	0.543000	0.26434	0.996000	0.52242	0.923000	0.55619	1.817000	0.39002	2.937000	0.99478	0.650000	0.86243	GAT	PKHD1L1	-	pfam_IPT,superfamily_Ig_E-set,smart_IPT	ENSG00000205038		0.328	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	HGNC	protein_coding	OTTHUMT00000381017.1	-	0.00	17	0	G	NM_177531		110393634	+1	tier1	-	no_errors	ENST00000378402	ensembl	human	known	74_37	missense	16.03	110	21	SNP	1.000	A
PLCD3	113026	genome.wustl.edu	37	17	43189975	43189975	+	5'UTR	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr17:43189975G>T	ENST00000540511.1	-	0	2465				PLCD3_ENST00000322765.5_3'UTR			Q8N3E9	PLCD3_HUMAN	phospholipase C, delta 3						angiogenesis (GO:0001525)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|labyrinthine layer blood vessel development (GO:0060716)|lipid catabolic process (GO:0016042)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17						AGGCGAGTGAGGTGGGCCCTC	0.642																																																	0													59.0	68.0	65.0					17																	43189975		2090	4209	6299	SO:0001623	5_prime_UTR_variant	0			AC002117	CCDS74077.1	17q21	2012-04-20			ENSG00000161714	ENSG00000161714	3.1.4.11		9061	protein-coding gene	gene with protein product		608795				10702670, 9056492	Standard	NM_133373		Approved		uc002iib.3	Q8N3E9	OTTHUMG00000168029	ENST00000540511.1:c.-3641C>A	17.37:g.43189975G>T			Q8TEC1|Q8TF37|Q96FL6	RNA	SNP	-	NULL	ENST00000540511.1	37	NULL		17																																																																																			PLCD3	-	-	ENSG00000161714		0.642	PLCD3-001	KNOWN	basic	processed_transcript	PLCD3	HGNC	protein_coding	OTTHUMT00000397579.1	-	0.00	69	0	G	NM_133373		43189975	-1	tier1	-	no_errors	ENST00000540511	ensembl	human	known	74_37	rna	8.00	46	4	SNP	0.000	T
PLCE1	51196	genome.wustl.edu	37	10	96084118	96084118	+	Missense_Mutation	SNP	G	G	A			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr10:96084118G>A	ENST00000371380.3	+	30	6749	c.6514G>A	c.(6514-6516)Gcc>Acc	p.A2172T	PLCE1_ENST00000260766.3_Missense_Mutation_p.A2172T|PLCE1_ENST00000371375.1_Missense_Mutation_p.A1864T|NOC3L_ENST00000543788.1_Intron|PLCE1_ENST00000371385.3_Missense_Mutation_p.A1864T			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	2172	Ras-associating 2. {ECO:0000255|PROSITE- ProRule:PRU00166}.				activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				CTTATGCAAAGCCAAATATTC	0.393																																																	0													198.0	195.0	196.0					10																	96084118		1904	4127	6031	SO:0001583	missense	0				CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.6514G>A	10.37:g.96084118G>A	ENSP00000360431:p.Ala2172Thr		A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_dom,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,smart_Ras-assoc,pfscan_C2_dom,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C	p.A2172T	ENST00000371380.3	37	c.6514	CCDS41552.1	10	.	.	.	.	.	.	.	.	.	.	G	34	5.387787	0.95988	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.17691	2.26;2.26;2.26;2.26	5.81	5.81	0.92471	Ras-association (3);	0.000000	0.85682	D	0.000000	T	0.46132	0.1377	M	0.76574	2.34	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.37244	-0.9714	10	0.87932	D	0	.	19.6886	0.95989	0.0:0.0:1.0:0.0	.	2156;1864;2172	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	T	2172;2172;1864;1864	ENSP00000260766:A2172T;ENSP00000360431:A2172T;ENSP00000360438:A1864T;ENSP00000360426:A1864T	ENSP00000260766:A2172T	A	+	1	0	PLCE1	96074108	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.434000	0.97515	2.746000	0.94184	0.655000	0.94253	GCC	PLCE1	-	pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc	ENSG00000138193		0.393	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCE1	HGNC	protein_coding	OTTHUMT00000049469.3	-	0.00	21	0	G	NM_016341		96084118	+1	tier1	-	no_errors	ENST00000260766	ensembl	human	known	74_37	missense	82.61	8	38	SNP	1.000	A
PLTP	5360	genome.wustl.edu	37	20	44536519	44536519	+	Silent	SNP	C	C	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr20:44536519C>T	ENST00000477313.1	-	5	1104	c.510G>A	c.(508-510)acG>acA	p.T170T	PLTP_ENST00000354050.4_Silent_p.T118T|PLTP_ENST00000542937.1_Silent_p.T190T|PLTP_ENST00000372420.1_Silent_p.T82T|PLTP_ENST00000372431.3_Silent_p.T170T|PLTP_ENST00000420868.2_Silent_p.T75T			P55058	PLTP_HUMAN	phospholipid transfer protein	170					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)				AGGTGATGAACGTGGAGAGAA	0.587																																																	0													76.0	62.0	67.0					20																	44536519		2201	4298	6499	SO:0001819	synonymous_variant	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.510G>A	20.37:g.44536519C>T			A8K006|B4DDD5|B4DRB4|E1P5N8|E7EV16|Q8WTT1|Q9BR07|Q9BSH8	Silent	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.T190	ENST00000477313.1	37	c.570	CCDS13386.1	20																																																																																			PLTP	-	pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N	ENSG00000100979		0.587	PLTP-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PLTP	HGNC	protein_coding	OTTHUMT00000354633.1	-	0.00	64	0	C	NM_006227		44536519	-1	tier1	-	no_errors	ENST00000542937	ensembl	human	known	74_37	silent	50.00	29	29	SNP	0.098	T
PM20D2	135293	genome.wustl.edu	37	6	89859017	89859017	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr6:89859017G>T	ENST00000275072.4	+	2	594	c.499G>T	c.(499-501)Ggt>Tgt	p.G167C		NM_001010853.1	NP_001010853.1	Q8IYS1	P20D2_HUMAN	peptidase M20 domain containing 2	167						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|skin(1)	12		all_cancers(76;9.47e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00813)		AGAAGAAGATGGTGGTGGCAA	0.403																																																	0													152.0	154.0	153.0					6																	89859017		2203	4300	6503	SO:0001583	missense	0			BC035036	CCDS34499.1	6q15	2014-07-14	2007-11-14	2007-11-14	ENSG00000146281	ENSG00000146281			21408	protein-coding gene	gene with protein product	"""&#946;-alanyl-lysine dipeptidase"""	615913	"""aminoacylase 1-like 2"""	ACY1L2		24891507	Standard	NM_001010853		Approved	bA63L7.3	uc003pmz.4	Q8IYS1	OTTHUMG00000015193	ENST00000275072.4:c.499G>T	6.37:g.89859017G>T	ENSP00000275072:p.Gly167Cys		B4DYJ2|Q5T7J9|Q6MZV2|Q86XD9	Missense_Mutation	SNP	pfam_Peptidase_M20_dimer,pfam_Peptidase_M20,superfamily_Peptidase_M20_dimer,pirsf_Pept_M20D_amidohydro_pred	p.G167C	ENST00000275072.4	37	c.499	CCDS34499.1	6	.	.	.	.	.	.	.	.	.	.	G	19.43	3.826794	0.71143	.	.	ENSG00000146281	ENST00000275072	T	0.57907	0.37	5.77	5.77	0.91146	.	0.251262	0.43416	D	0.000572	T	0.78880	0.4353	H	0.95982	3.75	0.44241	D	0.997085	D	0.58970	0.984	P	0.61874	0.895	D	0.84428	0.0575	10	0.72032	D	0.01	-10.7923	19.9576	0.97228	0.0:0.0:1.0:0.0	.	167	Q8IYS1	P20D2_HUMAN	C	167	ENSP00000275072:G167C	ENSP00000275072:G167C	G	+	1	0	PM20D2	89915736	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.721000	0.54941	2.884000	0.98904	0.655000	0.94253	GGT	PM20D2	-	pfam_Peptidase_M20,pirsf_Pept_M20D_amidohydro_pred	ENSG00000146281		0.403	PM20D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PM20D2	HGNC	protein_coding	OTTHUMT00000041477.1	-	0.00	27	0	G	NM_001010853		89859017	+1	tier1	-	no_errors	ENST00000275072	ensembl	human	known	74_37	missense	7.41	50	4	SNP	1.000	T
PODXL	5420	genome.wustl.edu	37	7	131195807	131195807	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr7:131195807G>T	ENST00000378555.3	-	2	733	c.486C>A	c.(484-486)agC>agA	p.S162R	PODXL_ENST00000465001.1_5'Flank|PODXL_ENST00000541194.1_Missense_Mutation_p.S164R|PODXL_ENST00000322985.9_Missense_Mutation_p.S162R|PODXL_ENST00000537928.1_Missense_Mutation_p.S162R			O00592	PODXL_HUMAN	podocalyxin-like	162	Thr-rich.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|epithelial tube formation (GO:0072175)|glomerular visceral epithelial cell development (GO:0072015)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-cell adhesion (GO:0022408)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|regulation of microvillus assembly (GO:0032534)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|slit diaphragm (GO:0036057)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					CACTGTGGCTGCTTTTCCCCC	0.537																																																	0													349.0	304.0	319.0					7																	131195807		2203	4300	6503	SO:0001583	missense	0				CCDS34755.1, CCDS47714.1	7q32-q33	2008-07-18			ENSG00000128567	ENSG00000128567			9171	protein-coding gene	gene with protein product		602632					Standard	NM_001018111		Approved	PCLP, Gp200, PC	uc003vqx.4	O00592	OTTHUMG00000154918	ENST00000378555.3:c.486C>A	7.37:g.131195807G>T	ENSP00000367817:p.Ser162Arg		A6NHX8|Q52LZ7|Q53ER6	Missense_Mutation	SNP	pfam_CD34/Podocalyxin,pirsf_Podocalyxin-like_p1	p.S164R	ENST00000378555.3	37	c.492	CCDS34755.1	7	.	.	.	.	.	.	.	.	.	.	G	4.389	0.071767	0.08436	.	.	ENSG00000128567	ENST00000541194;ENST00000537928;ENST00000544955;ENST00000378555;ENST00000322985	T;T;T;T	0.13657	2.73;2.57;2.74;2.8	3.06	-6.12	0.02124	.	7.777730	0.00166	N	0.000017	T	0.07773	0.0195	N	0.08118	0	0.09310	N	1	B;B	0.19073	0.033;0.02	B;B	0.19946	0.027;0.012	T	0.30621	-0.9972	10	0.48119	T	0.1	0.0685	9.6101	0.39657	0.1902:0.1383:0.6714:0.0	.	162;162	O00592-2;O00592	.;PODXL_HUMAN	R	164;162;152;162;162	ENSP00000440518:S164R;ENSP00000442655:S162R;ENSP00000367817:S162R;ENSP00000319782:S162R	ENSP00000319782:S162R	S	-	3	2	PODXL	130846347	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.899000	0.01600	-1.906000	0.01089	-1.331000	0.01271	AGC	PODXL	-	pirsf_Podocalyxin-like_p1	ENSG00000128567		0.537	PODXL-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	PODXL	HGNC	protein_coding	OTTHUMT00000337627.2		0.00	103	0	G	NM_001018111		131195807	-1			no_errors	ENST00000541194	ensembl	human	known	74_37	missense	7.27	51	4	SNP	0.000	T
POLR1A	25885	genome.wustl.edu	37	2	86281401	86281401	+	Silent	SNP	C	C	T	rs545753325		TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr2:86281401C>T	ENST00000263857.6	-	15	2448	c.2070G>A	c.(2068-2070)acG>acA	p.T690T	POLR1A_ENST00000483538.1_5'UTR|POLR1A_ENST00000409681.1_Silent_p.T690T			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	690					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						TTATGAGCAGCGTTGACACAA	0.433													C|||	1	0.000199681	0.0008	0.0	5008	,	,		22203	0.0		0.0	False		,,,				2504	0.0																0													92.0	90.0	90.0					2																	86281401		1915	4138	6053	SO:0001819	synonymous_variant	0			AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"""RNA polymerase subunits"""	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.2070G>A	2.37:g.86281401C>T			B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Silent	SNP	pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_Rpb1_1,smart_RNA_pol_N	p.T690	ENST00000263857.6	37	c.2070	CCDS42706.1	2																																																																																			POLR1A	-	pfam_RNA_pol_Rpb1_3	ENSG00000068654		0.433	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR1A	HGNC	protein_coding	OTTHUMT00000329830.2	-	0.00	26	0	C	NM_015425		86281401	-1	tier1	-	no_errors	ENST00000263857	ensembl	human	known	74_37	silent	46.30	29	25	SNP	0.006	T
UBE2D4	51619	genome.wustl.edu	37	7	43992661	43992661	+	3'UTR	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr7:43992661G>T	ENST00000222402.3	+	0	900				POLR2J4_ENST00000427076.1_RNA|UBE2D4_ENST00000394798.4_3'UTR|RP5-1165K10.2_ENST00000454572.1_RNA	NM_015983.3	NP_057067.1	Q9Y2X8	UB2D4_HUMAN	ubiquitin-conjugating enzyme E2D 4 (putative)						protein K11-linked ubiquitination (GO:0070979)|protein K27-linked ubiquitination (GO:0044314)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)		acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|large_intestine(2)|lung(1)|pancreas(1)	5						TACCACACCAGGGCCTCAGCC	0.617																																					Esophageal Squamous(27;401 815 16344 30604)												0																																										SO:0001624	3_prime_UTR_variant	0			BC004104	CCDS5474.1	7p13	2005-08-11			ENSG00000078967	ENSG00000078967		"""Ubiquitin-conjugating enzymes E2"""	21647	protein-coding gene	gene with protein product						12690205	Standard	NM_015983		Approved	HBUCE1	uc003tja.2	Q9Y2X8	OTTHUMG00000128971	ENST00000222402.3:c.*367G>T	7.37:g.43992661G>T			A4D1V0	RNA	SNP	-	NULL	ENST00000222402.3	37	NULL	CCDS5474.1	7																																																																																			POLR2J4	-	-	ENSG00000214783		0.617	UBE2D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR2J4	HGNC	protein_coding	OTTHUMT00000250958.2	-	0.00	33	0	G	NM_015983		43992661	-1	tier1	-	no_errors	ENST00000427076	ensembl	human	known	74_37	rna	27.27	8	3	SNP	0.359	T
POTEC	388468	genome.wustl.edu	37	18	14543325	14543325	+	5'Flank	SNP	C	C	A	rs562129474	byFrequency	TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr18:14543325C>A	ENST00000358970.5	-	0	0				POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C											NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AAAACCCACACCCACCCGGGG	0.622													.|||	3	0.000599042	0.0	0.0	5008	,	,		10987	0.003		0.0	False		,,,				2504	0.0																0																																										SO:0001631	upstream_gene_variant	0			BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963		18.37:g.14543325C>A	Exception_encountered			RNA	SNP	-	NULL	ENST00000358970.5	37	NULL	CCDS45835.1	18																																																																																			POTEC	-	-	ENSG00000183206		0.622	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	POTEC	HGNC	protein_coding	OTTHUMT00000371179.1	-	0.00	76	0	C	XM_496269		14543325	-1	tier1	-	no_errors	ENST00000389891	ensembl	human	known	74_37	rna	12.90	27	4	SNP	0.022	A
PPP2R3A	5523	genome.wustl.edu	37	3	135720957	135720957	+	Missense_Mutation	SNP	C	C	A			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr3:135720957C>A	ENST00000264977.3	+	2	1234	c.617C>A	c.(616-618)tCt>tAt	p.S206Y	PPP2R3A_ENST00000490467.1_Intron	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	206					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein catabolic process (GO:0045732)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|somite development (GO:0061053)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|protein phosphatase type 2A regulator activity (GO:0008601)			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CAAAACTTTTCTGAAGAAGAC	0.363																																																	0													56.0	62.0	60.0					3																	135720957		2203	4299	6502	SO:0001583	missense	0			L12146	CCDS3087.1, CCDS3088.1, CCDS54642.1	3q22.2-q22.3	2013-01-10	2010-06-18	2002-04-26	ENSG00000073711	ENSG00000073711	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""EF-hand domain containing"""	9307	protein-coding gene	gene with protein product		604944	"""protein phosphatase 2 (formerly 2A), regulatory subunit B'' (PR 72), alpha isoform and (PR 130), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B'', alpha"""	PPP2R3		8392071	Standard	NM_002718		Approved		uc003eqv.2	Q06190	OTTHUMG00000159766	ENST00000264977.3:c.617C>A	3.37:g.135720957C>A	ENSP00000264977:p.Ser206Tyr		A8KAE7|B4DNU1|B7ZAE3|Q06189|Q9NPQ5	Missense_Mutation	SNP	pfscan_EF_hand_dom	p.S206Y	ENST00000264977.3	37	c.617	CCDS3087.1	3	.	.	.	.	.	.	.	.	.	.	C	16.13	3.035916	0.54896	.	.	ENSG00000073711	ENST00000264977	T	0.08370	3.1	5.34	5.34	0.76211	.	0.139535	0.48767	D	0.000172	T	0.21267	0.0512	L	0.54323	1.7	0.80722	D	1	D	0.67145	0.996	P	0.56700	0.804	T	0.00162	-1.1971	10	0.87932	D	0	.	18.0392	0.89314	0.0:1.0:0.0:0.0	.	206	Q06190	P2R3A_HUMAN	Y	206	ENSP00000264977:S206Y	ENSP00000264977:S206Y	S	+	2	0	PPP2R3A	137203647	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.775000	0.62346	2.484000	0.83849	0.655000	0.94253	TCT	PPP2R3A	-	NULL	ENSG00000073711		0.363	PPP2R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R3A	HGNC	protein_coding	OTTHUMT00000357232.1		0.00	22	0	C	NM_002718		135720957	+1			no_errors	ENST00000264977	ensembl	human	known	74_37	missense	5.00	57	3	SNP	1.000	A
PRDM1	639	genome.wustl.edu	37	6	106553658	106553658	+	Silent	SNP	C	C	A			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr6:106553658C>A	ENST00000369096.4	+	5	1857	c.1623C>A	c.(1621-1623)ccC>ccA	p.P541P	PRDM1_ENST00000369091.2_Silent_p.P505P|PRDM1_ENST00000369089.3_Silent_p.P407P	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	541	Interaction with PIAS1.				cell fate commitment (GO:0045165)|eye photoreceptor cell development (GO:0042462)|germ cell development (GO:0007281)|intestinal epithelial cell development (GO:0060576)|maternal placenta development (GO:0001893)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of gene expression (GO:0010628)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		TGGCAGCCCCCAGCAGCGACG	0.572			"""D, N, Mis, F, S"""		DLBCL																																			Rec	yes		6	6q21	639	"""PR domain containing 1, with ZNF domain"""		L	0													46.0	49.0	48.0					6																	106553658		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS5054.2, CCDS34505.1	6q21	2013-01-08			ENSG00000057657	ENSG00000057657		"""Zinc fingers, C2H2-type"""	9346	protein-coding gene	gene with protein product		603423		BLIMP1		1851123	Standard	NM_001198		Approved	PRDI-BF1	uc003prd.2	O75626	OTTHUMG00000015299	ENST00000369096.4:c.1623C>A	6.37:g.106553658C>A			B2REA6|E1P5E0|Q86WM7	Silent	SNP	pfam_Znf_C2H2,pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_Znf_PRDM1,pfscan_SET_dom,pfscan_Znf_C2H2	p.P541	ENST00000369096.4	37	c.1623	CCDS5054.2	6																																																																																			PRDM1	-	pirsf_Znf_PRDM1	ENSG00000057657		0.572	PRDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM1	HGNC	protein_coding	OTTHUMT00000041661.3		0.00	70	0	C			106553658	+1			no_errors	ENST00000369096	ensembl	human	known	74_37	silent	8.00	23	2	SNP	1.000	A
PRDM5	11107	genome.wustl.edu	37	4	121737722	121737722	+	Nonsense_Mutation	SNP	G	G	A	rs371288295		TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr4:121737722G>A	ENST00000264808.3	-	7	991	c.751C>T	c.(751-753)Cag>Tag	p.Q251*	PRDM5_ENST00000515109.1_Nonsense_Mutation_p.Q220*|PRDM5_ENST00000428209.2_Nonsense_Mutation_p.Q220*	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	251					histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|mitotic cell cycle (GO:0000278)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.Q251*(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TCCTGGTGCTGCTCAAAACTA	0.488																																																	1	Substitution - Nonsense(1)	lung(1)						G	stop/GLN	0,4406		0,0,2203	47.0	44.0	45.0		751	6.0	1.0	4		45	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	PRDM5	NM_018699.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		251/631	121737722	1,13005	2203	4300	6503	SO:0001587	stop_gained	0			AF272897	CCDS3716.1, CCDS75187.1, CCDS75188.1	4q25-q26	2013-01-08			ENSG00000138738	ENSG00000138738		"""Zinc fingers, C2H2-type"""	9349	protein-coding gene	gene with protein product		614161					Standard	XM_005262706		Approved	PFM2	uc003idn.3	Q9NQX1	OTTHUMG00000132970	ENST00000264808.3:c.751C>T	4.37:g.121737722G>A	ENSP00000264808:p.Gln251*		Q0VAI9|Q0VAJ0|Q6NXQ7	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_SET_dom,smart_Znf_C2H2-like,pirsf_Znf_PRDM5,pfscan_SET_dom,pfscan_Znf_C2H2	p.Q251*	ENST00000264808.3	37	c.751	CCDS3716.1	4	.	.	.	.	.	.	.	.	.	.	G	34	5.391259	0.95988	0.0	1.16E-4	ENSG00000138738	ENST00000264808;ENST00000515109;ENST00000428209	.	.	.	5.98	5.98	0.97165	.	0.101909	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	-29.4105	20.4434	0.99119	0.0:0.0:1.0:0.0	.	.	.	.	X	251;220;220	.	ENSP00000264808:Q251X	Q	-	1	0	PRDM5	121957172	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.838000	0.97847	0.655000	0.94253	CAG	PRDM5	-	smart_Znf_C2H2-like,pirsf_Znf_PRDM5,pfscan_Znf_C2H2	ENSG00000138738		0.488	PRDM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM5	HGNC	protein_coding	OTTHUMT00000256528.2		0.00	14	0	G			121737722	-1			no_errors	ENST00000264808	ensembl	human	known	74_37	nonsense	21.43	11	3	SNP	1.000	A
PTPRC	5788	genome.wustl.edu	37	1	198697520	198697520	+	Nonsense_Mutation	SNP	C	C	A			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr1:198697520C>A	ENST00000367376.2	+	16	1937	c.1766C>A	c.(1765-1767)tCa>tAa	p.S589*	PTPRC_ENST00000352140.3_Nonsense_Mutation_p.S541*|PTPRC_ENST00000594404.1_Nonsense_Mutation_p.S428*|PTPRC_ENST00000348564.6_Nonsense_Mutation_p.S430*|PTPRC_ENST00000442510.2_Nonsense_Mutation_p.S591*	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	589					axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						ATTGTGACATCAATAGCCCTG	0.294																																																	0													124.0	129.0	127.0					1																	198697520		2203	4299	6502	SO:0001587	stop_gained	0			Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.1766C>A	1.37:g.198697520C>A	ENSP00000356346:p.Ser589*		A8K7W6|Q16614|Q9H0Y6	Nonsense_Mutation	SNP	pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Leukocyte_common_ag,pfam_PTP_recept_N,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.S591*	ENST00000367376.2	37	c.1772		1	.	.	.	.	.	.	.	.	.	.	C	37	6.162080	0.97338	.	.	ENSG00000081237	ENST00000367376;ENST00000367366;ENST00000352140;ENST00000535566;ENST00000530727;ENST00000442510;ENST00000367367;ENST00000348564	.	.	.	5.47	4.54	0.55810	.	0.415744	0.18172	N	0.149435	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.1176	0.42601	0.0:0.8341:0.0:0.1659	.	.	.	.	X	591;525;541;541;475;589;523;428	.	ENSP00000306782:S428X	S	+	2	0	PTPRC	196964143	0.998000	0.40836	0.996000	0.52242	0.920000	0.55202	3.977000	0.56874	1.224000	0.43551	0.603000	0.83216	TCA	PTPRC	-	pirsf_Leukocyte_common_ag	ENSG00000081237		0.294	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	PTPRC	HGNC	protein_coding			0.00	20	0	C			198697520	+1			no_errors	ENST00000442510	ensembl	human	known	74_37	nonsense	7.14	26	2	SNP	0.998	A
PTPRM	5797	genome.wustl.edu	37	18	7949302	7949302	+	Missense_Mutation	SNP	C	C	T	rs140369696		TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr18:7949302C>T	ENST00000332175.8	+	6	1824	c.787C>T	c.(787-789)Cgc>Tgc	p.R263C	PTPRM_ENST00000400053.4_Missense_Mutation_p.R201C|PTPRM_ENST00000444013.1_Missense_Mutation_p.R50C|PTPRM_ENST00000400060.4_Missense_Mutation_p.R263C|PTPRM_ENST00000580170.1_Missense_Mutation_p.R263C	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	263	Ig-like C2-type.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				CTGCATGATTCGCACTGAAGG	0.388																																																	0								C	CYS/ARG,CYS/ARG	0,4406		0,0,2203	135.0	126.0	129.0		787,787	2.8	1.0	18	dbSNP_134	129	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PTPRM	NM_001105244.1,NM_002845.3	180,180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	263/1466,263/1453	7949302	1,13005	2203	4300	6503	SO:0001583	missense	0			X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.787C>T	18.37:g.7949302C>T	ENSP00000331418:p.Arg263Cys		A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.R263C	ENST00000332175.8	37	c.787	CCDS11840.1	18	.	.	.	.	.	.	.	.	.	.	C	11.88	1.770766	0.31320	0.0	1.16E-4	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17	5.64	2.84	0.33178	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.354621	0.33854	N	0.004498	T	0.76198	0.3954	L	0.29908	0.895	0.46131	D	0.998888	D;D;D	0.89917	1.0;0.994;0.994	P;P;P	0.62184	0.899;0.465;0.465	T	0.71358	-0.4617	10	0.35671	T	0.21	.	8.6024	0.33754	0.1254:0.7425:0.0:0.1322	.	50;263;263	E7EVX9;A7MBN1;P28827	.;.;PTPRM_HUMAN	C	263;263;201;50	ENSP00000331418:R263C;ENSP00000382933:R263C;ENSP00000382927:R201C;ENSP00000387608:R50C	ENSP00000331418:R263C	R	+	1	0	PTPRM	7939302	1.000000	0.71417	0.979000	0.43373	0.986000	0.74619	3.799000	0.55529	0.388000	0.25054	0.650000	0.86243	CGC	PTPRM	-	smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000173482		0.388	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRM	HGNC	protein_coding	OTTHUMT00000254456.1		0.00	25	0	C			7949302	+1			no_errors	ENST00000400060	ensembl	human	known	74_37	missense	7.04	66	5	SNP	0.996	T
PTPRM	5797	genome.wustl.edu	37	18	8143707	8143707	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr18:8143707G>T	ENST00000332175.8	+	14	3267	c.2230G>T	c.(2230-2232)Gct>Tct	p.A744S	PTPRM_ENST00000400053.4_Missense_Mutation_p.A682S|PTPRM_ENST00000444013.1_Missense_Mutation_p.A531S|PTPRM_ENST00000400060.4_Missense_Mutation_p.A744S|PTPRM_ENST00000580170.1_Missense_Mutation_p.A744S	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	744					homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				AGTTAAAATTGCTGGAGTCAT	0.453																																																	0													165.0	160.0	161.0					18																	8143707		2203	4300	6503	SO:0001583	missense	0			X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.2230G>T	18.37:g.8143707G>T	ENSP00000331418:p.Ala744Ser		A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.A744S	ENST00000332175.8	37	c.2230	CCDS11840.1	18	.	.	.	.	.	.	.	.	.	.	G	24.9	4.579812	0.86645	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	T;T;T;T	0.50813	1.06;1.05;0.87;0.73	5.92	5.92	0.95590	.	0.109437	0.64402	D	0.000009	T	0.62551	0.2437	L	0.52759	1.655	0.80722	D	1	P;D;D	0.63880	0.886;0.993;0.993	P;D;D	0.72625	0.643;0.978;0.978	T	0.50800	-0.8785	10	0.10636	T	0.68	.	20.3206	0.98668	0.0:0.0:1.0:0.0	.	531;744;744	E7EVX9;A7MBN1;P28827	.;.;PTPRM_HUMAN	S	744;744;682;531	ENSP00000331418:A744S;ENSP00000382933:A744S;ENSP00000382927:A682S;ENSP00000387608:A531S	ENSP00000331418:A744S	A	+	1	0	PTPRM	8133707	1.000000	0.71417	0.911000	0.35937	0.990000	0.78478	9.464000	0.97655	2.809000	0.96659	0.655000	0.94253	GCT	PTPRM	-	NULL	ENSG00000173482		0.453	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRM	HGNC	protein_coding	OTTHUMT00000254456.1		0.00	29	0	G			8143707	+1			no_errors	ENST00000400060	ensembl	human	known	74_37	missense	5.88	64	4	SNP	1.000	T
PTPRR	5801	genome.wustl.edu	37	12	71050497	71050497	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr12:71050497G>T	ENST00000283228.2	-	13	2319	c.1867C>A	c.(1867-1869)Ctt>Att	p.L623I	PTPRR_ENST00000378778.1_Missense_Mutation_p.L417I|PTPRR_ENST00000440835.2_Missense_Mutation_p.L378I|PTPRR_ENST00000537619.2_5'UTR|PTPRR_ENST00000342084.4_Missense_Mutation_p.L511I|PTPRR_ENST00000549308.1_Missense_Mutation_p.L378I	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	623	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				ERBB2 signaling pathway (GO:0038128)|in utero embryonic development (GO:0001701)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.L623I(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		TCCATACGAAGCTGGCAGACA	0.458																																																	1	Substitution - Missense(1)	lung(1)											201.0	155.0	170.0					12																	71050497		2203	4300	6503	SO:0001583	missense	0			D64053	CCDS8998.1, CCDS44945.1, CCDS55847.1, CCDS55848.1	12q15	2011-10-07			ENSG00000153233	ENSG00000153233		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9680	protein-coding gene	gene with protein product		602853		PTPRQ		7557444, 10393441	Standard	NM_002849		Approved	PTPBR7, PTP-SL, EC-PTP, PCPTP1	uc001swi.2	Q15256	OTTHUMG00000169502	ENST00000283228.2:c.1867C>A	12.37:g.71050497G>T	ENSP00000283228:p.Leu623Ile		B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Missense_Mutation	SNP	pirsf_Tyr_Pase_rcpt_R/non-rcpt_5,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_KIM-con,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.L623I	ENST00000283228.2	37	c.1867	CCDS8998.1	12	.	.	.	.	.	.	.	.	.	.	G	20.8	4.051210	0.75960	.	.	ENSG00000153233	ENST00000440835;ENST00000283228;ENST00000378778;ENST00000342084;ENST00000549308	D;D;D;D;D	0.85258	-1.96;-1.96;-1.96;-1.96;-1.96	5.48	5.48	0.80851	Protein-tyrosine phosphatase, receptor/non-receptor type (4);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.43747	D	0.000521	D	0.90123	0.6914	L	0.56124	1.755	0.58432	D	0.999997	D;D;D	0.69078	0.996;0.996;0.997	D;D;D	0.91635	0.998;0.998;0.999	D	0.90015	0.4124	10	0.52906	T	0.07	-14.1544	14.6133	0.68531	0.0722:0.0:0.9278:0.0	.	511;417;623	F5GXR7;Q15256-4;Q15256	.;.;PTPRR_HUMAN	I	378;623;417;511;378	ENSP00000391750:L378I;ENSP00000283228:L623I;ENSP00000368054:L417I;ENSP00000339605:L511I;ENSP00000446943:L378I	ENSP00000283228:L623I	L	-	1	0	PTPRR	69336764	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	5.099000	0.64554	2.573000	0.86826	0.655000	0.94253	CTT	PTPRR	-	pirsf_Tyr_Pase_rcpt_R/non-rcpt_5,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000153233		0.458	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRR	HGNC	protein_coding	OTTHUMT00000404485.1		0.00	12	0	G	NM_002849		71050497	-1			no_errors	ENST00000283228	ensembl	human	known	74_37	missense	6.25	30	2	SNP	1.000	T
PXN	5829	genome.wustl.edu	37	12	120661550	120661550	+	Silent	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr12:120661550G>T	ENST00000228307.7	-	3	468	c.327C>A	c.(325-327)tcC>tcA	p.S109S	PXN_ENST00000536957.1_Silent_p.S107S|PXN_ENST00000538144.1_5'UTR|PXN_ENST00000424649.2_Silent_p.S109S|PXN_ENST00000458477.2_5'UTR|PXN_ENST00000267257.7_Silent_p.S109S	NM_001080855.2	NP_001074324.1	P49023	PAXI_HUMAN	paxillin	109					activation of MAPK activity (GO:0000187)|branching morphogenesis of an epithelial tube (GO:0048754)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cellular component movement (GO:0006928)|cellular response to reactive oxygen species (GO:0034614)|cytoskeleton organization (GO:0007010)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|growth hormone receptor signaling pathway (GO:0060396)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|muscle contraction (GO:0006936)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of cell shape (GO:0008360)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	beta-catenin binding (GO:0008013)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CACCCACTCGGGAGCACGGAG	0.602																																																	0													54.0	60.0	58.0					12																	120661550		2068	4211	6279	SO:0001819	synonymous_variant	0			U14588	CCDS44996.1, CCDS44997.1, CCDS44998.1, CCDS58281.1	12q24	2006-01-23			ENSG00000089159	ENSG00000089159			9718	protein-coding gene	gene with protein product		602505				7534286	Standard	NM_001080855		Approved		uc001txv.3	P49023	OTTHUMG00000169169	ENST00000228307.7:c.327C>A	12.37:g.120661550G>T			B2RAI3|B7ZMB4|O14970|O14971|O60360|Q5HYA4	Silent	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM,prints_Paxillin	p.S109	ENST00000228307.7	37	c.327	CCDS44997.1	12																																																																																			PXN	-	NULL	ENSG00000089159		0.602	PXN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PXN	HGNC	protein_coding	OTTHUMT00000402679.4		0.00	126	0	G	NM_002859		120661550	-1			no_errors	ENST00000267257	ensembl	human	known	74_37	silent	7.69	48	4	SNP	0.975	T
PYGB	5834	genome.wustl.edu	37	20	25259011	25259011	+	Silent	SNP	G	G	T	rs200070805	byFrequency	TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr20:25259011G>T	ENST00000216962.4	+	8	1022	c.912G>T	c.(910-912)acG>acT	p.T304T		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	304					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	glycogen phosphorylase activity (GO:0008184)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31						TGGCCGCCACGCTCCAGGACA	0.612																																																	0													81.0	74.0	77.0					20																	25259011		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS13171.1	20p11.21	2013-03-01			ENSG00000100994	ENSG00000100994	2.4.1.1	"""Glycogen phosphorylases"""	9723	protein-coding gene	gene with protein product	"""glycogen phosphorylase, brain form"""	138550					Standard	NM_002862		Approved		uc002wup.3	P11216	OTTHUMG00000032117	ENST00000216962.4:c.912G>T	20.37:g.25259011G>T			Q96AK1|Q9NPX8	Silent	SNP	pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas	p.T304	ENST00000216962.4	37	c.912	CCDS13171.1	20																																																																																			PYGB	-	pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas	ENSG00000100994		0.612	PYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PYGB	HGNC	protein_coding	OTTHUMT00000078415.2	-	0.00	70	0	G	NM_002862		25259011	+1	tier1	-	no_errors	ENST00000216962	ensembl	human	known	74_37	silent	6.94	67	5	SNP	0.941	T
PYGM	5837	genome.wustl.edu	37	11	64522770	64522770	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr11:64522770G>T	ENST00000164139.3	-	7	1228	c.830C>A	c.(829-831)tCt>tAt	p.S277Y	PYGM_ENST00000377432.3_Missense_Mutation_p.S189Y	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	277					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glycogen phosphorylase activity (GO:0008184)|nucleotide binding (GO:0000166)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CAGGACACGAGAGATGTTCTC	0.612																																																	0													122.0	119.0	120.0					11																	64522770		2201	4296	6497	SO:0001583	missense	0				CCDS8079.1, CCDS53659.1	11q12-q13.2	2013-03-01	2008-07-31		ENSG00000068976	ENSG00000068976	2.4.1.1	"""Glycogen phosphorylases"""	9726	protein-coding gene	gene with protein product	"""McArdle syndrome"", ""glycogen storage disease type V"", ""glycogen phosphorylase, muscle form"""	608455	"""phosphorylase, glycogen; muscle"""				Standard	NM_005609		Approved		uc001oax.4	P11217	OTTHUMG00000066835	ENST00000164139.3:c.830C>A	11.37:g.64522770G>T	ENSP00000164139:p.Ser277Tyr		A0AVK1|A6NDY6	Missense_Mutation	SNP	pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas	p.S277Y	ENST00000164139.3	37	c.830	CCDS8079.1	11	.	.	.	.	.	.	.	.	.	.	G	28.9	4.959408	0.92726	.	.	ENSG00000068976	ENST00000377432;ENST00000164139;ENST00000540450	D;D	0.94931	-3.4;-3.56	5.63	5.63	0.86233	.	0.000000	0.64402	D	0.000013	D	0.98242	0.9418	H	0.96518	3.835	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.995	D	0.99316	1.0905	10	0.87932	D	0	-15.8142	17.1762	0.86842	0.0:0.0:1.0:0.0	.	189;277	A6NDY6;P11217	.;PYGM_HUMAN	Y	189;277;258	ENSP00000366650:S189Y;ENSP00000164139:S277Y	ENSP00000164139:S277Y	S	-	2	0	PYGM	64279346	1.000000	0.71417	0.970000	0.41538	0.844000	0.47949	9.869000	0.99810	2.665000	0.90641	0.655000	0.94253	TCT	PYGM	-	pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas	ENSG00000068976		0.612	PYGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PYGM	HGNC	protein_coding	OTTHUMT00000143254.2	-	0.00	79	0	G	NM_005609		64522770	-1	tier1	-	no_errors	ENST00000164139	ensembl	human	known	74_37	missense	11.11	32	4	SNP	1.000	T
QRICH2	84074	genome.wustl.edu	37	17	74287508	74287508	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr17:74287508G>T	ENST00000262765.5	-	4	2981	c.2802C>A	c.(2800-2802)ttC>ttA	p.F934L		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	934										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						CAAAGAGAGAGAAAGCATGGC	0.498																																																	0													96.0	67.0	77.0					17																	74287508		2203	4300	6503	SO:0001583	missense	0			AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.2802C>A	17.37:g.74287508G>T	ENSP00000262765:p.Phe934Leu		A2RRE1|Q96LM3	Missense_Mutation	SNP	NULL	p.F934L	ENST00000262765.5	37	c.2802	CCDS32741.1	17	.	.	.	.	.	.	.	.	.	.	G	7.116	0.576944	0.13686	.	.	ENSG00000129646	ENST00000262765;ENST00000301613	T	0.08193	3.12	3.91	-3.28	0.05033	.	.	.	.	.	T	0.03136	0.0092	N	0.19112	0.55	0.09310	N	1	B;B	0.30973	0.302;0.07	B;B	0.24974	0.057;0.033	T	0.43766	-0.9371	9	0.10902	T	0.67	.	0.717	0.00934	0.2014:0.157:0.3426:0.299	.	934;934	B5MD94;Q9H0J4	.;QRIC2_HUMAN	L	934	ENSP00000262765:F934L	ENSP00000262765:F934L	F	-	3	2	QRICH2	71799103	0.081000	0.21417	0.000000	0.03702	0.078000	0.17371	0.923000	0.28757	-0.843000	0.04189	0.313000	0.20887	TTC	QRICH2	-	NULL	ENSG00000129646		0.498	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	QRICH2	HGNC	protein_coding	OTTHUMT00000395140.1		0.00	34	0	G	NM_032134		74287508	-1			no_errors	ENST00000262765	ensembl	human	known	74_37	missense	9.09	40	4	SNP	0.000	T
RAB2B	84932	genome.wustl.edu	37	14	21931862	21931862	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr14:21931862G>T	ENST00000397762.1	-	6	527	c.427C>A	c.(427-429)Ctt>Att	p.L143I	RAB2B_ENST00000461909.1_5'UTR	NM_001163380.1|NM_032846.3	NP_001156852.1|NP_116235.2	Q8WUD1	RAB2B_HUMAN	RAB2B, member RAS oncogene family	143					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)		ATGAATATAAGTCCATGCTCC	0.403																																					Melanoma(131;1007 1750 28652 34486 42672)												0													155.0	142.0	146.0					14																	21931862		2203	4300	6503	SO:0001583	missense	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.427C>A	14.37:g.21931862G>T	ENSP00000380869:p.Leu143Ile		B2RD03|D3DS24|Q6NZ33	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.L143I	ENST00000397762.1	37	c.427	CCDS9570.1	14	.	.	.	.	.	.	.	.	.	.	G	21.1	4.093891	0.76870	.	.	ENSG00000129472	ENST00000397762;ENST00000304034	T	0.79749	-1.3	6.01	2.23	0.28157	Small GTP-binding protein domain (1);	0.094608	0.45361	D	0.000364	T	0.77039	0.4072	N	0.21617	0.685	0.42909	D	0.994256	B;B;D	0.53462	0.286;0.451;0.96	P;P;P	0.60173	0.662;0.606;0.87	T	0.74456	-0.3659	10	0.72032	D	0.01	.	5.9152	0.19052	0.261:0.0:0.6145:0.1245	.	143;97;78	Q8WUD1;B4DUD4;Q6NZ33	RAB2B_HUMAN;.;.	I	143	ENSP00000380869:L143I	ENSP00000302005:L143I	L	-	1	0	RAB2B	21001702	0.997000	0.39634	0.962000	0.40283	0.998000	0.95712	2.434000	0.44802	0.155000	0.19261	0.655000	0.94253	CTT	RAB2B	-	pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000129472		0.403	RAB2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB2B	HGNC	protein_coding	OTTHUMT00000074053.4		0.00	22	0	G			21931862	-1			no_errors	ENST00000397762	ensembl	human	known	74_37	missense	7.89	35	3	SNP	0.506	T
RALBP1	10928	genome.wustl.edu	37	18	9522403	9522403	+	Missense_Mutation	SNP	C	C	A			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr18:9522403C>A	ENST00000019317.4	+	4	1172	c.949C>A	c.(949-951)Ctg>Atg	p.L317M	RP11-61L19.3_ENST00000609094.1_RNA|RALBP1_ENST00000383432.3_Missense_Mutation_p.L317M			Q15311	RBP1_HUMAN	ralA binding protein 1	317	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				ATP catabolic process (GO:0006200)|chemotaxis (GO:0006935)|positive regulation of Cdc42 GTPase activity (GO:0043089)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|transport (GO:0006810)	cytosol (GO:0005829)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ATPase activity, coupled to movement of substances (GO:0043492)|GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	14					Carbamazepine(DB00564)|Doxorubicin(DB00997)|Sorafenib(DB00398)|Vincristine(DB00541)	TAACTATCTTCTGATTTCTTG	0.428																																																	0													82.0	78.0	79.0					18																	9522403		2203	4298	6501	SO:0001583	missense	0			L42542	CCDS11845.1	18p11.22	2006-04-22			ENSG00000017797	ENSG00000017797			9841	protein-coding gene	gene with protein product		605801				7673236	Standard	NM_006788		Approved	RLIP76, RIP1, RIP	uc002koc.3	Q15311	OTTHUMG00000131596	ENST00000019317.4:c.949C>A	18.37:g.9522403C>A	ENSP00000019317:p.Leu317Met		D3DUI0	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.L317M	ENST00000019317.4	37	c.949	CCDS11845.1	18	.	.	.	.	.	.	.	.	.	.	C	22.3	4.272160	0.80469	.	.	ENSG00000017797	ENST00000019317;ENST00000383432	T;T	0.22134	1.97;1.97	5.61	5.61	0.85477	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.061993	0.64402	D	0.000003	T	0.47021	0.1423	M	0.69185	2.1	0.80722	D	1	D	0.63880	0.993	D	0.67900	0.954	T	0.41070	-0.9529	10	0.87932	D	0	0.1573	19.6434	0.95767	0.0:1.0:0.0:0.0	.	317	Q15311	RBP1_HUMAN	M	317	ENSP00000019317:L317M;ENSP00000372924:L317M	ENSP00000019317:L317M	L	+	1	2	RALBP1	9512403	1.000000	0.71417	0.994000	0.49952	0.996000	0.88848	4.930000	0.63462	2.647000	0.89833	0.563000	0.77884	CTG	RALBP1	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	ENSG00000017797		0.428	RALBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RALBP1	HGNC	protein_coding	OTTHUMT00000254479.1		0.00	33	0	C	NM_006788		9522403	+1			no_errors	ENST00000019317	ensembl	human	known	74_37	missense	6.45	87	6	SNP	1.000	A
RAP1GDS1	5910	genome.wustl.edu	37	4	99341172	99341172	+	Missense_Mutation	SNP	A	A	G			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr4:99341172A>G	ENST00000408927.3	+	11	1290	c.1177A>G	c.(1177-1179)Ata>Gta	p.I393V	RAP1GDS1_ENST00000380158.4_Missense_Mutation_p.I345V|RAP1GDS1_ENST00000264572.7_Missense_Mutation_p.I302V|RAP1GDS1_ENST00000408900.3_Missense_Mutation_p.I344V|RAP1GDS1_ENST00000339360.5_Missense_Mutation_p.I394V|RAP1GDS1_ENST00000453712.2_Missense_Mutation_p.I394V	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1	393					myosin filament assembly (GO:0031034)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of Rho GTPase activity (GO:0032321)|vascular smooth muscle contraction (GO:0014829)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		TTCTCCAGTTATAAATAAAGC	0.333			T	NUP98	T-ALL																																			Dom	yes		4	4q21-q25	5910	"""RAP1, GTP-GDP dissociation stimulator 1"""		L	0													97.0	100.0	99.0					4																	99341172		1808	4072	5880	SO:0001583	missense	0				CCDS43253.1, CCDS43254.1, CCDS47105.1, CCDS47106.1, CCDS47107.1, CCDS47108.1	4q23-q25	2013-02-14			ENSG00000138698	ENSG00000138698		"""Armadillo repeat containing"""	9859	protein-coding gene	gene with protein product		179502				8262526, 17951244	Standard	NM_001100426		Approved	SmgGDS	uc003htw.4	P52306	OTTHUMG00000160987	ENST00000408927.3:c.1177A>G	4.37:g.99341172A>G	ENSP00000386153:p.Ile393Val		E9PH06|G5E9P9|Q499L7|Q4KMV2|Q4QQI8|Q9BUW9|Q9BUX6|Q9NYM2|Q9NZA8	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.I394V	ENST00000408927.3	37	c.1180	CCDS43253.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	3.981|3.981	-0.006449|-0.006449	0.07773|0.07773	.|.	.|.	ENSG00000138698|ENSG00000138698	ENST00000380158;ENST00000264572;ENST00000408927;ENST00000453712;ENST00000408900;ENST00000339360|ENST00000509501	T;T;T;T;T;T|.	0.46451|.	0.87;1.64;0.87;0.87;0.87;0.87|.	5.61|5.61	3.83|3.83	0.44106|0.44106	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.063129|.	0.64402|.	N|.	0.000007|.	T|T	0.21841|0.21841	0.0526|0.0526	N|N	0.04508|0.04508	-0.205|-0.205	0.31994|0.31994	N|N	0.604213|0.604213	B;B;B;B;B;B|.	0.02656|.	0.0;0.0;0.0;0.0;0.0;0.0|.	B;B;B;B;B;B|.	0.04013|.	0.0;0.001;0.0;0.0;0.0;0.0|.	T|T	0.26916|0.26916	-1.0089|-1.0089	10|5	0.25106|.	T|.	0.35|.	-5.7215|-5.7215	10.2158|10.2158	0.43168|0.43168	0.1671:0.0:0.8329:0.0|0.1671:0.0:0.8329:0.0	.|.	302;344;345;393;394;394|.	E9PH06;P52306-2;Q499L7;P52306;Q4QQI8;G5E9P9|.	.;.;.;GDS1_HUMAN;.;.|.	V|C	345;302;393;394;344;394|202	ENSP00000369503:I345V;ENSP00000264572:I302V;ENSP00000386153:I393V;ENSP00000407157:I394V;ENSP00000386223:I344V;ENSP00000340454:I394V|.	ENSP00000264572:I302V|.	I|Y	+|+	1|2	0|0	RAP1GDS1|RAP1GDS1	99560195|99560195	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.958000|0.958000	0.62258|0.62258	5.297000|5.297000	0.65704|0.65704	0.679000|0.679000	0.31345|0.31345	0.533000|0.533000	0.62120|0.62120	ATA|TAT	RAP1GDS1	-	superfamily_ARM-type_fold,smart_Armadillo	ENSG00000138698		0.333	RAP1GDS1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RAP1GDS1	HGNC	protein_coding	OTTHUMT00000363273.2	-	0.00	33	0	A	NM_001100426		99341172	+1	tier1	-	no_errors	ENST00000339360	ensembl	human	known	74_37	missense	30.77	54	24	SNP	1.000	G
RAPGEF4	11069	genome.wustl.edu	37	2	173901421	173901421	+	Splice_Site	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr2:173901421G>T	ENST00000397081.3	+	29	2996		c.e29+1		RAPGEF4_ENST00000397087.3_Splice_Site|RAPGEF4_ENST00000540783.1_Splice_Site|RAPGEF4_ENST00000264111.6_Splice_Site|RAPGEF4_ENST00000409036.1_Intron|RAPGEF4_ENST00000535187.1_Splice_Site|RAPGEF4_ENST00000539331.1_Splice_Site|RAPGEF4_ENST00000538974.1_Splice_Site	NM_007023.3	NP_008954.2	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4						blood coagulation (GO:0007596)|calcium ion-dependent exocytosis (GO:0017156)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|insulin secretion (GO:0030073)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of exocytosis (GO:0017157)|regulation of insulin secretion (GO:0050796)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			TGAAAAAATGGTATGTGCAGT	0.289																																																	0													126.0	115.0	118.0					2																	173901421		1812	4079	5891	SO:0001630	splice_region_variant	0			U78516	CCDS42775.1, CCDS42776.1, CCDS63060.1, CCDS63061.1, CCDS74604.1	2q31-q32	2008-02-05	2004-03-26		ENSG00000091428	ENSG00000091428			16626	protein-coding gene	gene with protein product	"""cAMP-regulated guanine nucleotide exchange factor II"", "" exchange protein directly activated by cAMP 2"""	606058	"""RAP guanine-nucleotide-exchange factor (GEF) 4"""			10777494, 9856955	Standard	NM_007023		Approved	cAMP-GEFII, CGEF2	uc002uhv.4	Q8WZA2	OTTHUMG00000133677	ENST00000397081.3:c.2853+1G>T	2.37:g.173901421G>T			B2R7R3|B7Z283|B7Z3T6|B7Z912|O95636|Q8IXK6|Q8TAA4	Splice_Site	SNP	-	e29+1	ENST00000397081.3	37	c.2853+1	CCDS42775.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.7|23.7	4.452357|4.452357	0.84209|0.84209	.|.	.|.	ENSG00000091428|ENSG00000091428	ENST00000264111;ENST00000397081;ENST00000397087;ENST00000538974;ENST00000540783;ENST00000539331;ENST00000535187|ENST00000397085	.|T	.|0.27890	.|1.64	6.07|6.07	6.07|6.07	0.98685|0.98685	.|.	.|.	.|.	.|.	.|.	.|T	.|0.52901	.|0.1763	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.33369	.|-0.9871	.|5	.|.	.|.	.|.	.|.	20.6593|20.6593	0.99626|0.99626	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	.|L	-1|183	.|ENSP00000380274:V183L	.|.	.|V	+|+	.|1	.|0	RAPGEF4|RAPGEF4	173609667|173609667	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	9.675000|9.675000	0.98638|0.98638	2.885000|2.885000	0.99019|0.99019	0.655000|0.655000	0.94253|0.94253	.|GTA	RAPGEF4	-	-	ENSG00000091428		0.289	RAPGEF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAPGEF4	HGNC	protein_coding	OTTHUMT00000257864.2		0.00	15	0	G	NM_007023	Intron	173901421	+1			no_errors	ENST00000397081	ensembl	human	known	74_37	splice_site	5.97	63	4	SNP	1.000	T
RAPSN	5913	genome.wustl.edu	37	11	47463408	47463408	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr11:47463408G>T	ENST00000298854.2	-	4	969	c.756C>A	c.(754-756)ttC>ttA	p.F252L	RAPSN_ENST00000528356.1_5'Flank|RAPSN_ENST00000529341.1_Missense_Mutation_p.F252L|RAPSN_ENST00000352508.3_Missense_Mutation_p.F252L|RAPSN_ENST00000524487.1_Missense_Mutation_p.F199L|RNU6-1302P_ENST00000516518.1_RNA	NM_005055.4	NP_005046.2	Q13702	RAPSN_HUMAN	receptor-associated protein of the synapse	252					positive regulation of neuron apoptotic process (GO:0043525)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)	acetylcholine receptor binding (GO:0033130)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(6)|ovary(2)	12						GGATGTCAGCGAAGCAGAGCA	0.677																																																	0																																										SO:0001583	missense	0				CCDS7936.1, CCDS7937.1	11p11.2	2009-04-28	2007-02-23		ENSG00000165917	ENSG00000165917		"""RING-type (C3HC4) zinc fingers"""	9863	protein-coding gene	gene with protein product	"""rapsyn"""	601592	"""receptor-associated protein of the synapse, 43kD"""			8812503	Standard	NM_005055		Approved	RNF205, CMS1D, CMS1E	uc001nfi.2	Q13702	OTTHUMG00000166891	ENST00000298854.2:c.756C>A	11.37:g.47463408G>T	ENSP00000298854:p.Phe252Leu		Q8TDF3|Q9BTD9	Missense_Mutation	SNP	pfam_Rapsyn_myristoylation/link_N,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING,prints_Postsynaptic	p.F252L	ENST00000298854.2	37	c.756	CCDS7936.1	11	.	.	.	.	.	.	.	.	.	.	G	11.00	1.511694	0.27036	.	.	ENSG00000165917	ENST00000298854;ENST00000352508;ENST00000524487;ENST00000529341	D;D;T;D	0.91068	-2.57;-2.78;1.68;-2.78	5.19	-0.922	0.10468	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.85208	0.5644	L	0.43757	1.38	0.58432	D	0.99999	B;P;P	0.36330	0.096;0.548;0.453	B;P;B	0.45071	0.026;0.468;0.311	T	0.77120	-0.2705	10	0.02654	T	1	-16.5458	9.8993	0.41338	0.6323:0.0:0.3677:0.0	.	252;252;252	E9PK11;Q13702-2;Q13702	.;.;RAPSN_HUMAN	L	252;252;199;252	ENSP00000298854:F252L;ENSP00000298853:F252L;ENSP00000435551:F199L;ENSP00000431732:F252L	ENSP00000298854:F252L	F	-	3	2	RAPSN	47419984	1.000000	0.71417	0.999000	0.59377	0.882000	0.50991	1.962000	0.40442	0.024000	0.15214	-0.471000	0.05019	TTC	RAPSN	-	smart_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000165917		0.677	RAPSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAPSN	HGNC	protein_coding	OTTHUMT00000391726.1	-	0.00	61	0	G			47463408	-1	tier1	-	no_errors	ENST00000298854	ensembl	human	known	74_37	missense	14.81	23	4	SNP	1.000	T
RASA2	5922	genome.wustl.edu	37	3	141305501	141305501	+	Missense_Mutation	SNP	A	A	G			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr3:141305501A>G	ENST00000452898.1	+	19	1875	c.1840A>G	c.(1840-1842)Aga>Gga	p.R614G	RASA2_ENST00000286364.3_Missense_Mutation_p.R614G|RASA2_ENST00000509118.1_3'UTR	NM_006506.2	NP_006497.2	Q15283	RASA2_HUMAN	RAS p21 protein activator 2	614	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						GATGTATAAAAGAGCTCAAGG	0.338																																																	0													53.0	56.0	55.0					3																	141305501		2203	4300	6503	SO:0001583	missense	0			AF115573	CCDS3117.1	3q22-q23	2013-01-10			ENSG00000155903	ENSG00000155903		"""Pleckstrin homology (PH) domain containing"""	9872	protein-coding gene	gene with protein product		601589				8699317	Standard	NM_006506		Approved	GAP1M	uc003etz.1	Q15283	OTTHUMG00000160221	ENST00000452898.1:c.1840A>G	3.37:g.141305501A>G	ENSP00000391677:p.Arg614Gly		A8K7K1|G3V0F9|O00695|Q15284|Q92594|Q99577|Q9UEQ2	Missense_Mutation	SNP	pfam_RasGAP,pfam_C2_dom,pfam_Pleckstrin_homology,pfam_Znf_Btk_motif,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_C2_dom,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP,prints_Znf_Btk_motif	p.R614G	ENST00000452898.1	37	c.1840		3	.	.	.	.	.	.	.	.	.	.	A	19.02	3.745457	0.69418	.	.	ENSG00000155903	ENST00000286364;ENST00000452898;ENST00000423660	T;T	0.76578	-1.03;-1.03	5.42	4.23	0.50019	Rho GTPase activation protein (1);Pleckstrin homology-type (1);Pleckstrin homology domain (3);Ras GTPase-activating protein (1);	0.000000	0.85682	D	0.000000	D	0.89083	0.6614	M	0.90542	3.125	0.58432	D	0.999991	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;1.0;0.999;1.0	D	0.90037	0.4139	10	0.87932	D	0	.	11.5094	0.50484	0.714:0.2859:0.0:0.0	.	206;614;614;614	E7EU60;A8K7K1;G3V0F9;Q15283	.;.;.;RASA2_HUMAN	G	614;614;206	ENSP00000286364:R614G;ENSP00000391677:R614G	ENSP00000286364:R614G	R	+	1	2	RASA2	142788191	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.306000	0.51881	0.968000	0.38212	0.533000	0.62120	AGA	RASA2	-	pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000155903		0.338	RASA2-201	KNOWN	basic	protein_coding	RASA2	HGNC	protein_coding			0.00	14	0	A	NM_006506		141305501	+1			no_errors	ENST00000452898	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	G
RBM12	10137	genome.wustl.edu	37	20	34242887	34242887	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr20:34242887G>T	ENST00000374114.3	-	3	621	c.358C>A	c.(358-360)Ccc>Acc	p.P120T	RBM12_ENST00000359646.1_Missense_Mutation_p.P120T|CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000397442.1_Intron|RP1-309K20.6_ENST00000541176.2_Intron|CPNE1_ENST00000317677.5_5'Flank|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000397446.1_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.P120T|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000352393.4_Intron	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	120						nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			ACTGTTGTGGGCAAGTTTACC	0.438											OREG0004046	type=REGULATORY REGION|Gene=RBM12|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0													204.0	194.0	197.0					20																	34242887		2203	4300	6503	SO:0001583	missense	0			AJ289772	CCDS13261.1	20q11.21	2013-02-12			ENSG00000244462	ENSG00000244462		"""RNA binding motif (RRM) containing"""	9898	protein-coding gene	gene with protein product		607179				11435693	Standard	NM_006047		Approved	HRIHFB2091, KIAA0765, SWAN	uc021wcq.1	Q9NTZ6	OTTHUMG00000032350	ENST00000374114.3:c.358C>A	20.37:g.34242887G>T	ENSP00000363228:p.Pro120Thr	846	B3KRU2|E1P5R6|O94865|Q8N3B1|Q9H196	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.P120T	ENST00000374114.3	37	c.358	CCDS13261.1	20	.	.	.	.	.	.	.	.	.	.	G	10.73	1.432392	0.25813	.	.	ENSG00000244462	ENST00000374114;ENST00000359646;ENST00000374104;ENST00000424458;ENST00000431148;ENST00000435161	T;T;T;T;T;T	0.34072	2.09;2.09;2.09;1.38;1.81;1.89	5.5	4.56	0.56223	.	0.068637	0.64402	D	0.000012	T	0.25158	0.0611	L	0.27053	0.805	0.80722	D	1	P	0.39809	0.689	B	0.34590	0.186	T	0.03933	-1.0991	10	0.33141	T	0.24	-4.5312	14.5525	0.68078	0.0698:0.0:0.9302:0.0	.	120	Q9NTZ6	RBM12_HUMAN	T	120	ENSP00000363228:P120T;ENSP00000352668:P120T;ENSP00000363217:P120T;ENSP00000411036:P120T;ENSP00000392642:P120T;ENSP00000411692:P120T	ENSP00000352668:P120T	P	-	1	0	RBM12	33706301	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.629000	0.83207	1.567000	0.49668	0.555000	0.69702	CCC	RBM12	-	NULL	ENSG00000244462		0.438	RBM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM12	HGNC	protein_coding	OTTHUMT00000078894.1		0.00	33	0	G	NM_006047		34242887	-1			no_errors	ENST00000359646	ensembl	human	known	74_37	missense	5.06	75	4	SNP	1.000	T
RBM26	64062	genome.wustl.edu	37	13	79918806	79918807	+	Frame_Shift_Ins	INS	-	-	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr13:79918806_79918807insT	ENST00000438737.2	-	15	2621_2622	c.2181_2182insA	c.(2179-2184)aaacagfs	p.Q728fs	RBM26_ENST00000267229.7_Frame_Shift_Ins_p.Q701fs|RBM26_ENST00000438724.1_Frame_Shift_Ins_p.Q704fs			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	728					mRNA processing (GO:0006397)|negative regulation of phosphatase activity (GO:0010923)		metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		GTACTTACCTGTTTTTTTTTCT	0.332																																																	0																																										SO:0001589	frameshift_variant	0			AF116667	CCDS9462.1, CCDS66566.1, CCDS73591.1	13q31.1	2014-06-13	2006-06-22	2006-06-22	ENSG00000139746	ENSG00000139746		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	20327	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 2"", ""protein phosphatase 1, regulatory 132"""		"""chromosome 13 open reading frame 10"""	C13orf10		11149944, 15741184	Standard	XM_005266497		Approved	PRO1777, SE70-2, FLJ20957, ZC3H17, ARRS2, PPP1R132	uc001vky.2	Q5T8P6	OTTHUMG00000017133	ENST00000438737.2:c.2182dupA	13.37:g.79918815_79918815dupT	ENSP00000387531:p.Gln728fs		B4DZE0|Q2NKM2|Q2NKQ2|Q5CZH8|Q5T8P5|Q5T8P8|Q5U5P5|Q5W0G7|Q8N3H5|Q96K92|Q96SZ3|Q9H2F8|Q9H7F9|Q9P1G7	Frame_Shift_Ins	INS	pfam_PWI_dom,superfamily_PWI_dom,smart_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom	p.Q703fs	ENST00000438737.2	37	c.2110_2109		13																																																																																			RBM26	-	NULL	ENSG00000139746		0.332	RBM26-004	NOVEL	not_organism_supported|basic	protein_coding	RBM26	HGNC	protein_coding	OTTHUMT00000045373.4		0.00	13	0	0	NM_022118		79918807	-1			no_errors	ENST00000438724	ensembl	human	known	74_37	frame_shift_ins	5.83	113	7	INS	1.000:1.000	T
RECK	8434	genome.wustl.edu	37	9	36118794	36118794	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr9:36118794G>T	ENST00000377966.3	+	18	2860	c.2294G>T	c.(2293-2295)gGt>gTt	p.G765V		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	765	Kazal-like 3. {ECO:0000255|PROSITE- ProRule:PRU00798}.				blood vessel maturation (GO:0001955)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)	anchored component of membrane (GO:0031225)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.G765V(1)		cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			GGGCACAATGGTGAGACCTAC	0.542																																																	1	Substitution - Missense(1)	lung(1)											98.0	81.0	87.0					9																	36118794		2203	4300	6503	SO:0001583	missense	0			E13833	CCDS6597.1	9p13.3	2008-05-15			ENSG00000122707	ENSG00000122707			11345	protein-coding gene	gene with protein product		605227		ST15		9789069	Standard	NM_021111		Approved	hRECK	uc003zyv.3	O95980	OTTHUMG00000019898	ENST00000377966.3:c.2294G>T	9.37:g.36118794G>T	ENSP00000367202:p.Gly765Val		B2RNS1|Q5W0K6|Q8WX37	Missense_Mutation	SNP	pfam_Kazal_dom,superfamily_Prot_inh_PMP,smart_Kazal_dom	p.G765V	ENST00000377966.3	37	c.2294	CCDS6597.1	9	.	.	.	.	.	.	.	.	.	.	G	19.98	3.927744	0.73327	.	.	ENSG00000122707	ENST00000377966	T	0.12569	2.67	5.63	5.63	0.86233	Proteinase inhibitor I1, Kazal (1);Protease inhibitor, Kazal-type (1);	0.124148	0.53938	D	0.000054	T	0.42630	0.1211	M	0.85777	2.775	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.66716	0.946;0.946	T	0.38950	-0.9637	10	0.87932	D	0	-17.1745	17.5463	0.87863	0.0:0.0:1.0:0.0	.	765;765	A8K9D8;O95980	.;RECK_HUMAN	V	765	ENSP00000367202:G765V	ENSP00000367202:G765V	G	+	2	0	RECK	36108794	1.000000	0.71417	0.930000	0.37139	0.572000	0.35998	7.429000	0.80309	2.826000	0.97356	0.655000	0.94253	GGT	RECK	-	pfam_Kazal_dom,smart_Kazal_dom	ENSG00000122707		0.542	RECK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RECK	HGNC	protein_coding	OTTHUMT00000052409.1		0.00	27	0	G			36118794	+1			no_errors	ENST00000377966	ensembl	human	known	74_37	missense	6.45	29	2	SNP	1.000	T
RET	5979	genome.wustl.edu	37	10	43609092	43609092	+	Missense_Mutation	SNP	G	G	T	rs121913313		TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr10:43609092G>T	ENST00000355710.3	+	10	2080	c.1848G>T	c.(1846-1848)gaG>gaT	p.E616D	RET_ENST00000340058.5_Missense_Mutation_p.E616D	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	616					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.F612_C620del(1)	CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	CTGAGGAGGAGAAGTGCTTCT	0.642		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)		yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	ret proto-oncogene	yes	"""E, O"""	1	Deletion - In frame(1)	thyroid(1)											41.0	41.0	41.0					10																	43609092		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"""Cadherins / Cadherin-related"""	9967	protein-coding gene	gene with protein product	"""cadherin-related family member 16"""	164761	"""multiple endocrine neoplasia and medullary thyroid carcinoma 1"", ""Hirschsprung disease 1"""	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.1848G>T	10.37:g.43609092G>T	ENSP00000347942:p.Glu616Asp		A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	pirsf_Tyr_kinase_Ret_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Cadherin,superfamily_Kinase-like_dom,superfamily_Cadherin-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Cadherin	p.E616D	ENST00000355710.3	37	c.1848	CCDS7200.1	10	.	.	.	.	.	.	.	.	.	.	G	10.44	1.350943	0.24512	.	.	ENSG00000165731	ENST00000355710;ENST00000498820;ENST00000340058	T;D;T	0.98381	-1.08;-4.9;-1.2	4.92	4.92	0.64577	.	0.523192	0.19056	N	0.123889	D	0.93125	0.7811	N	0.08118	0	0.22435	N	0.999101	B;B;B	0.09022	0.0;0.001;0.002	B;B;B	0.10450	0.002;0.002;0.005	T	0.83158	-0.0100	10	0.14656	T	0.56	.	11.917	0.52771	0.0:0.0:0.8259:0.174	.	362;616;616	B4DGX8;P07949;P07949-2	.;RET_HUMAN;.	D	616;133;616	ENSP00000347942:E616D;ENSP00000419080:E133D;ENSP00000344798:E616D	ENSP00000344798:E616D	E	+	3	2	RET	42929098	1.000000	0.71417	0.999000	0.59377	0.592000	0.36648	3.074000	0.50065	2.284000	0.76573	0.563000	0.77884	GAG	RET	-	pirsf_Tyr_kinase_Ret_rcpt	ENSG00000165731		0.642	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RET	HGNC	protein_coding	OTTHUMT00000047694.2		0.00	134	0	G	NM_020975		43609092	+1			no_errors	ENST00000355710	ensembl	human	known	74_37	missense	6.25	60	4	SNP	0.999	T
RFX3	5991	genome.wustl.edu	37	9	3247930	3247930	+	Intron	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr9:3247930G>T	ENST00000382004.3	-	16	2280				RFX3_ENST00000302303.1_Missense_Mutation_p.N690K|RFX3_ENST00000358730.2_Missense_Mutation_p.N690K	NM_001282116.1|NM_134428.1	NP_001269045.1|NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)						cell maturation (GO:0048469)|cilium assembly (GO:0042384)|cilium-dependent cell motility (GO:0060285)|endocrine pancreas development (GO:0031018)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type B pancreatic cell development (GO:2000078)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell maturation (GO:0072560)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.N690N(1)		central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		ggctgacttggttaggaacca	0.383																																																	1	Substitution - coding silent(1)	central_nervous_system(1)											88.0	91.0	90.0					9																	3247930		2203	4300	6503	SO:0001627	intron_variant	0			AI811824	CCDS6449.1, CCDS6450.1, CCDS75809.1	9p24.2	2008-02-05			ENSG00000080298	ENSG00000080298			9984	protein-coding gene	gene with protein product		601337				8289803	Standard	XM_005251534		Approved		uc003zhr.3	P48380	OTTHUMG00000019456	ENST00000382004.3:c.1968+101C>A	9.37:g.3247930G>T			A8K0H5|D3DRH8|D3DRH9|Q5JTL7|Q5JTL8|Q6NW13|Q8WTU4|Q95HL5|Q95HL6	Missense_Mutation	SNP	pfam_RFX1_trans_act,pfam_DNA-bd_RFX	p.N690K	ENST00000382004.3	37	c.2070	CCDS6449.1	9	.	.	.	.	.	.	.	.	.	.	G	10.75	1.437591	0.25900	.	.	ENSG00000080298	ENST00000358730;ENST00000302303	T;T	0.58358	0.34;0.34	4.38	1.34	0.21922	.	.	.	.	.	T	0.33030	0.0849	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.20042	-1.0287	8	0.38643	T	0.18	.	2.4063	0.04414	0.0972:0.1808:0.4066:0.3154	.	690	P48380-2	.	K	690	ENSP00000351574:N690K;ENSP00000303847:N690K	ENSP00000303847:N690K	N	-	3	2	RFX3	3237930	0.008000	0.16893	0.012000	0.15200	0.213000	0.24496	0.385000	0.20685	0.170000	0.19704	0.591000	0.81541	AAC	RFX3	-	NULL	ENSG00000080298		0.383	RFX3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	RFX3	HGNC	protein_coding	OTTHUMT00000051545.1		0.00	18	0	G	NM_002919		3247930	-1			no_errors	ENST00000302303	ensembl	human	known	74_37	missense	5.26	54	3	SNP	0.003	T
RGAG4	340526	genome.wustl.edu	37	X	71349781	71349781	+	Missense_Mutation	SNP	C	C	T	rs373524278		TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chrX:71349781C>T	ENST00000545866.1	-	1	1977	c.1610G>A	c.(1609-1611)cGt>cAt	p.R537H	NHSL2_ENST00000540800.1_Intron|RGAG4_ENST00000609883.1_Missense_Mutation_p.R537H	NM_001024455.3	NP_001019626.1	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	537										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					TTGTCCTAAACGACCTGTGCG	0.587																																																	0								C	,HIS/ARG	4,3308		0,4,1367,570	46.0	49.0	48.0		,1610	3.2	0.3	X		48	0,6455		0,0,2335,1785	no	intron,missense	RGAG4,NHSL2	NM_001013627.2,NM_001024455.3	,29	0,4,3702,2355	TT,TC,CC,C		0.0,0.1208,0.041	,probably-damaging	,537/570	71349781	4,9763	1941	4120	6061	SO:0001583	missense	0			AB082532	CCDS55446.1	Xq13.1	2008-02-05			ENSG00000242732	ENSG00000242732			29430	protein-coding gene	gene with protein product						12056414, 15716091, 16093683	Standard	NM_001024455		Approved	KIAA2001, Mar5, Mart5	uc004eaj.2	Q5HYW3	OTTHUMG00000021808	ENST00000545866.1:c.1610G>A	X.37:g.71349781C>T	ENSP00000441366:p.Arg537His		A7E2W7|Q8NCM4|Q9NPX1	Missense_Mutation	SNP	pfam_Retrotrans_gag_dom	p.R537H	ENST00000545866.1	37	c.1610	CCDS55446.1	X	.	.	.	.	.	.	.	.	.	.	C	8.948	0.967446	0.18659	0.001208	0.0	ENSG00000242732	ENST00000545866;ENST00000479991	T;T	0.17213	2.29;2.29	4.11	3.25	0.37280	.	.	.	.	.	T	0.08179	0.0204	N	0.19112	0.55	0.09310	N	0.999999	P	0.47106	0.89	B	0.33568	0.166	T	0.18335	-1.0340	8	.	.	.	-4.5822	6.6381	0.22895	0.0:0.8701:0.0:0.1299	.	537	Q5HYW3	RGAG4_HUMAN	H	537	ENSP00000441366:R537H;ENSP00000418667:R537H	.	R	-	2	0	RGAG4	71266506	0.874000	0.30092	0.303000	0.25071	0.041000	0.13682	0.315000	0.19451	1.085000	0.41206	0.513000	0.50165	CGT	RGAG4	-	NULL	ENSG00000242732		0.587	RGAG4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	RGAG4	HGNC	protein_coding	OTTHUMT00000057171.1	-	0.00	37	0	C	NM_001024455		71349781	-1	tier1	-	no_errors	ENST00000479991	ensembl	human	known	74_37	missense	78.26	5	18	SNP	0.237	T
RGS22	26166	genome.wustl.edu	37	8	101014554	101014554	+	Missense_Mutation	SNP	C	C	A	rs535984838		TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr8:101014554C>A	ENST00000360863.6	-	18	2860	c.2666G>T	c.(2665-2667)cGg>cTg	p.R889L	RGS22_ENST00000523437.1_Missense_Mutation_p.R877L|RGS22_ENST00000523287.1_Missense_Mutation_p.R708L|RGS22_ENST00000519421.1_5'UTR|SNORD77_ENST00000391112.1_RNA	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	889	RGS 1. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			AGTTATTCTCCGGAACTGCTC	0.318																																																	0													83.0	75.0	78.0					8																	101014554		1819	4081	5900	SO:0001583	missense	0			AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"""Regulators of G-protein signaling"""	24499	protein-coding gene	gene with protein product		615650	"""regulator of G-protein signalling 22"""				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.2666G>T	8.37:g.101014554C>A	ENSP00000354109:p.Arg889Leu		A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Missense_Mutation	SNP	pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam	p.R889L	ENST00000360863.6	37	c.2666	CCDS43758.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.1|21.1	4.102854|4.102854	0.76983|0.76983	.|.	.|.	ENSG00000132554|ENSG00000132554	ENST00000427793|ENST00000360863;ENST00000523287;ENST00000523437;ENST00000517828	.|T;T;T;T	.|0.25250	.|1.81;1.81;1.81;1.81	5.4|5.4	5.4|5.4	0.78164|0.78164	.|Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	.|0.000000	.|0.64402	.|D	.|0.000001	.|T	.|0.54431	.|0.1858	M|M	0.73598|0.73598	2.24|2.24	0.38889|0.38889	D|D	0.957077|0.957077	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.999;0.999;0.999	.|T	.|0.59005	.|-0.7535	.|10	0.02654|0.72032	T|D	1|0.01	.|.	19.5416|19.5416	0.95277|0.95277	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|877;889;708	.|A8K944;Q8NE09;G3V112	.|.;RGS22_HUMAN;.	X|L	877|889;708;877;204	.|ENSP00000354109:R889L;ENSP00000429382:R708L;ENSP00000428212:R877L;ENSP00000427754:R204L	ENSP00000389751:G877X|ENSP00000354109:R889L	G|R	-|-	1|2	0|0	RGS22|RGS22	101083730|101083730	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.450000|0.450000	0.32258|0.32258	2.738000|2.738000	0.47401|0.47401	2.683000|2.683000	0.91414|0.91414	0.650000|0.650000	0.86243|0.86243	GGA|CGG	RGS22	-	pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam	ENSG00000132554		0.318	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RGS22	HGNC	protein_coding	OTTHUMT00000380365.1		0.00	11	0	C	NM_015668		101014554	-1			no_errors	ENST00000360863	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	A
RHNO1	83695	genome.wustl.edu	37	12	2997517	2997517	+	Silent	SNP	C	C	A	rs558835996	byFrequency	TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr12:2997517C>A	ENST00000489288.2	+	3	761	c.609C>A	c.(607-609)ccC>ccA	p.P203P	TULP3_ENST00000448120.2_5'Flank|TULP3_ENST00000397132.2_5'Flank|RHNO1_ENST00000461997.2_Silent_p.P189P|RHNO1_ENST00000464682.2_3'UTR	NM_001252499.2|NM_001257097.1|NM_001257098.1	NP_001239428.1|NP_001244026.1|NP_001244027.1	Q9BSD3	RHNO1_HUMAN	RAD9-HUS1-RAD1 interacting nuclear orphan 1	203					cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|positive regulation of G0 to G1 transition (GO:0070318)|recombinational repair (GO:0000725)	chromosome (GO:0005694)|nucleus (GO:0005634)											AAGACACCCCCGAGGACAAGT	0.512																																																	0													83.0	79.0	81.0					12																	2997517		2203	4300	6503	SO:0001819	synonymous_variant	0			AK021945	CCDS8518.1, CCDS58199.1	12p13.33	2012-08-23	2012-08-23	2012-08-23	ENSG00000171792	ENSG00000171792			28206	protein-coding gene	gene with protein product	"""Rad9, Rad1, Hus1 interacting nuclear orphan"""	614085	"""chromosome 12 open reading frame 32"""	C12orf32		20811708, 21659603	Standard	NM_001252499		Approved	HKMT1188, MGC13204, RHINO	uc031qfq.1	Q9BSD3	OTTHUMG00000158557	ENST00000489288.2:c.609C>A	12.37:g.2997517C>A			B7Z989	Silent	SNP	NULL	p.P203	ENST00000489288.2	37	c.609	CCDS8518.1	12																																																																																			RHNO1	-	NULL	ENSG00000171792		0.512	RHNO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHNO1	HGNC	protein_coding	OTTHUMT00000351286.2		0.00	15	0	C	NM_031465		2997517	+1			no_errors	ENST00000489288	ensembl	human	known	74_37	silent	8.51	43	4	SNP	0.026	A
RIMS1	22999	genome.wustl.edu	37	6	72974683	72974683	+	Missense_Mutation	SNP	T	T	G	rs368839251		TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr6:72974683T>G	ENST00000521978.1	+	20	3122	c.3122T>G	c.(3121-3123)cTt>cGt	p.L1041R	RIMS1_ENST00000538414.1_Intron|RIMS1_ENST00000348717.5_Intron|RIMS1_ENST00000264839.7_Missense_Mutation_p.L1041R|RIMS1_ENST00000520567.1_Intron|RIMS1_ENST00000518273.1_Intron|RIMS1_ENST00000522291.1_Intron|RIMS1_ENST00000491071.2_Intron|RIMS1_ENST00000517827.1_Intron|RIMS1_ENST00000401910.3_Intron|RIMS1_ENST00000523963.1_Intron|RIMS1_ENST00000425662.2_Intron|RIMS1_ENST00000517960.1_Intron	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1041					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				TCCAGACATCTTGTTAGGCAC	0.383																																																	0													57.0	52.0	54.0					6																	72974683		1839	4092	5931	SO:0001583	missense	0			AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.3122T>G	6.37:g.72974683T>G	ENSP00000428417:p.Leu1041Arg		A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel	p.L1041R	ENST00000521978.1	37	c.3122	CCDS47449.1	6	.	.	.	.	.	.	.	.	.	.	T	5.860	0.342778	0.11069	.	.	ENSG00000079841	ENST00000350827;ENST00000264839;ENST00000521978	T;T	0.14266	2.56;2.52	5.76	4.63	0.57726	.	0.773604	0.10922	N	0.619318	T	0.02610	0.0079	N	0.22421	0.69	0.80722	D	1	B	0.23540	0.087	B	0.23419	0.046	T	0.46317	-0.9200	10	0.11182	T	0.66	-4.5448	3.3306	0.07083	0.0:0.3309:0.0:0.6691	.	1041	Q86UR5	RIMS1_HUMAN	R	1041	ENSP00000264839:L1041R;ENSP00000428417:L1041R	ENSP00000264839:L1041R	L	+	2	0	RIMS1	73031404	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	1.793000	0.38764	2.199000	0.70637	0.477000	0.44152	CTT	RIMS1	-	NULL	ENSG00000079841		0.383	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMS1	HGNC	protein_coding	OTTHUMT00000374968.1	-	0.00	21	0	T			72974683	+1	tier1	-	no_errors	ENST00000521978	ensembl	human	known	74_37	missense	45.10	28	23	SNP	1.000	G
RNF138	51444	genome.wustl.edu	37	18	29704766	29704766	+	Silent	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr18:29704766G>T	ENST00000261593.3	+	6	977	c.519G>T	c.(517-519)ctG>ctT	p.L173L	RNF138_ENST00000257190.5_Silent_p.L79L|RP11-53I6.4_ENST00000583138.1_RNA	NM_001191324.1|NM_016271.4	NP_001178253.2|NP_057355.2	Q8WVD3	RN138_HUMAN	ring finger protein 138, E3 ubiquitin protein ligase	173					protein ubiquitination (GO:0016567)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	ligase activity (GO:0016874)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	12						AGCGTTTACTGGATCACTGTA	0.343																																																	0													143.0	134.0	137.0					18																	29704766		2202	4300	6502	SO:0001819	synonymous_variant	0			AF162680	CCDS11903.1, CCDS11904.1	18q12.1	2013-01-28	2012-02-23		ENSG00000134758	ENSG00000134758		"""RING-type (C3HC4) zinc fingers"""	17765	protein-coding gene	gene with protein product	"""nemo-like kinase associated ring finger protein"""		"""ring finger protein 138"""			22155992, 16714285	Standard	NM_016271		Approved	STRIN, NARF	uc021uip.2	Q8WVD3	OTTHUMG00000132265	ENST00000261593.3:c.519G>T	18.37:g.29704766G>T			B2RE17|Q9H8K2|Q9UF87|Q9UKI6	Silent	SNP	pfam_Znf_MIZ,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.L173	ENST00000261593.3	37	c.519	CCDS11903.1	18																																																																																			RNF138	-	smart_Znf_RING	ENSG00000134758		0.343	RNF138-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF138	HGNC	protein_coding	OTTHUMT00000255352.2		0.00	9	0	G	NM_016271		29704766	+1			no_errors	ENST00000261593	ensembl	human	known	74_37	silent	5.48	69	4	SNP	1.000	T
RNF146	81847	genome.wustl.edu	37	6	127608469	127608469	+	Silent	SNP	T	T	C			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr6:127608469T>C	ENST00000368314.1	+	3	1135	c.711T>C	c.(709-711)ccT>ccC	p.P237P	ECHDC1_ENST00000488087.1_5'Flank|RNF146_ENST00000610153.1_Silent_p.P237P|RNF146_ENST00000309649.3_Silent_p.P236P|RNF146_ENST00000356799.2_3'UTR|RNF146_ENST00000608991.1_Silent_p.P236P	NM_001242850.1|NM_001242851.1	NP_001229779.1|NP_001229780.1	Q9NTX7	RN146_HUMAN	ring finger protein 146	237					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly-ADP-D-ribose binding (GO:0072572)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(226;0.0407)|all cancers(137;0.2)		CACCATCCCCTGATGCAAGCA	0.478																																																	0													107.0	104.0	105.0					6																	127608469		2203	4300	6503	SO:0001819	synonymous_variant	0			AK027558	CCDS5136.1, CCDS56449.1	6q22.1-q22.33	2008-02-05			ENSG00000118518	ENSG00000118518		"""RING-type (C3HC4) zinc fingers"""	21336	protein-coding gene	gene with protein product		612137					Standard	NM_001242844		Approved	DKFZp434O1427, dactylidin, dJ351K20.1	uc021zes.1	Q9NTX7	OTTHUMG00000015522	ENST00000368314.1:c.711T>C	6.37:g.127608469T>C			E1P572|Q6FIB2|Q7L8H4|Q96K03|Q96T06|Q9NTX6	Silent	SNP	pfam_WWE-dom,smart_Znf_RING,smart_WWE-dom_subgr,pfscan_WWE-dom,pfscan_Znf_RING	p.P237	ENST00000368314.1	37	c.711	CCDS56449.1	6																																																																																			RNF146	-	NULL	ENSG00000118518		0.478	RNF146-001	KNOWN	basic|CCDS	protein_coding	RNF146	HGNC	protein_coding	OTTHUMT00000042112.1		0.00	15	0	T	NM_030963		127608469	+1			no_errors	ENST00000368314	ensembl	human	known	74_37	silent	5.56	34	2	SNP	0.987	C
ROBO2	6092	genome.wustl.edu	37	3	77600066	77600066	+	Missense_Mutation	SNP	C	C	T	rs199705591		TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr3:77600066C>T	ENST00000461745.1	+	8	2057	c.1157C>T	c.(1156-1158)gCg>gTg	p.A386V	ROBO2_ENST00000332191.8_Missense_Mutation_p.A386V|ROBO2_ENST00000487694.3_Missense_Mutation_p.A402V	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	386	Ig-like C2-type 4.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CGTTCCGACGCGGGTTACTAC	0.473																																																	0													79.0	78.0	78.0					3																	77600066		1933	4145	6078	SO:0001583	missense	0			AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.1157C>T	3.37:g.77600066C>T	ENSP00000417164:p.Ala386Val		O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.A386V	ENST00000461745.1	37	c.1157	CCDS43109.1	3	.	.	.	.	.	.	.	.	.	.	C	14.00	2.406025	0.42715	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191;ENST00000398467	T;T;T	0.68479	-0.33;-0.33;-0.33	5.49	4.55	0.56014	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.45606	D	0.000351	T	0.75072	0.3800	L	0.50919	1.6	0.39718	D	0.971425	D;D;D	0.69078	0.995;0.997;0.995	D;D;D	0.67231	0.938;0.942;0.95	T	0.72398	-0.4306	9	0.26408	T	0.33	.	16.0733	0.80951	0.0:0.866:0.134:0.0	.	402;386;386	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	V	402;402;406;386;386;107	ENSP00000417335:A402V;ENSP00000417164:A386V;ENSP00000327536:A386V	ENSP00000327536:A386V	A	+	2	0	ROBO2	77682756	1.000000	0.71417	0.225000	0.23894	0.113000	0.19764	6.001000	0.70685	2.742000	0.94016	0.591000	0.81541	GCG	ROBO2	-	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	ENSG00000185008		0.473	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ROBO2	HGNC	protein_coding	OTTHUMT00000352600.2	-	0.00	32	0	C	XM_031246		77600066	+1	tier1	rs199705591	no_errors	ENST00000461745	ensembl	human	known	74_37	missense	60.34	23	35	SNP	0.999	T
ROBO1	6091	genome.wustl.edu	37	3	78649389	78649389	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr3:78649389G>T	ENST00000464233.1	-	30	4928	c.4815C>A	c.(4813-4815)agC>agA	p.S1605R	ROBO1_ENST00000436010.2_Missense_Mutation_p.S1566R|ROBO1_ENST00000467549.1_Missense_Mutation_p.S1505R|ROBO1_ENST00000495273.1_Missense_Mutation_p.S1560R|ROBO1_ENST00000466906.1_5'UTR	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1605					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)	p.S1609S(1)|p.S1582S(1)|p.S1560S(1)|p.S1605S(1)		breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		ATGACATTGAGCTTGAGGAAC	0.383																																																	4	Substitution - coding silent(4)	endometrium(4)											162.0	150.0	154.0					3																	78649389		1882	4106	5988	SO:0001583	missense	0			AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10249	protein-coding gene	gene with protein product		602430	"""roundabout (axon guidance receptor, Drosophila) homolog 1"""			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.4815C>A	3.37:g.78649389G>T	ENSP00000420321:p.Ser1605Arg		B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	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_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.S1605R	ENST00000464233.1	37	c.4815	CCDS54611.1	3	.	.	.	.	.	.	.	.	.	.	G	15.50	2.852508	0.51270	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	T;T;T;T	0.64438	0.01;-0.02;-0.01;-0.1	5.61	3.83	0.44106	.	0.000000	0.85682	D	0.000000	T	0.65037	0.2653	L	0.27053	0.805	0.49798	D	0.999825	B;D;D;D	0.64830	0.057;0.99;0.964;0.994	B;D;P;D	0.71870	0.007;0.944;0.532;0.975	T	0.61247	-0.7101	9	.	.	.	.	11.9455	0.52926	0.1404:0.0:0.8596:0.0	.	1605;1560;1505;1566	Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	ROBO1_HUMAN;.;.;.	R	1566;1560;1605;1560;1505;1609	ENSP00000406043:S1566R;ENSP00000420321:S1605R;ENSP00000420637:S1560R;ENSP00000417992:S1505R	.	S	-	3	2	ROBO1	78732079	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.540000	0.53611	0.741000	0.32674	0.555000	0.69702	AGC	ROBO1	-	NULL	ENSG00000169855		0.383	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROBO1	HGNC	protein_coding	OTTHUMT00000352610.1		0.00	14	0	G	NM_002941		78649389	-1			no_errors	ENST00000464233	ensembl	human	known	74_37	missense	6.12	46	3	SNP	1.000	T
RUVBL1	8607	genome.wustl.edu	37	3	127801415	127801415	+	Silent	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr3:127801415G>T	ENST00000322623.5	-	10	1221	c.1122C>A	c.(1120-1122)atC>atA	p.I374I	RUVBL1_ENST00000417360.1_Intron|RUVBL1_ENST00000464873.1_Intron|RUVBL1_ENST00000480616.1_5'Flank	NM_003707.2	NP_003698.1	Q9Y265	RUVB1_HUMAN	RuvB-like AAA ATPase 1	374					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Ino80 complex (GO:0031011)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)	p.I374I(1)		endometrium(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26				GBM - Glioblastoma multiforme(114;0.181)		GGATTTTAATGATCTTTTAAA	0.458																																																	1	Substitution - coding silent(1)	large_intestine(1)											107.0	81.0	90.0					3																	127801415		2203	4300	6503	SO:0001819	synonymous_variant	0			AF070735	CCDS3047.1	3q21	2013-09-12	2013-09-12		ENSG00000175792	ENSG00000175792		"""INO80 complex subunits"", ""ATPases / AAA-type"""	10474	protein-coding gene	gene with protein product	"""pontin"", ""INO80 complex subunit H"""	603449	"""RuvB (E coli homolog)-like 1"", ""RuvB-like 1 (E. coli)"", ""RuvB-like AAA ATPase"""			9774387, 9588198	Standard	NM_003707		Approved	TIP49, NMP238, RVB1, TIP49a, Pontin52, ECP54, TIH1, Rvb1, INO80H	uc003ekh.3	Q9Y265	OTTHUMG00000159658	ENST00000322623.5:c.1122C>A	3.37:g.127801415G>T			B2R5S0|P82276|Q1KMR0|Q53HK5|Q53HL7|Q53Y27|Q9BSX9	Silent	SNP	pfam_TIP49_C,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,superfamily_NA-bd_OB-fold,smart_AAA+_ATPase	p.I374	ENST00000322623.5	37	c.1122	CCDS3047.1	3																																																																																			RUVBL1	-	pfam_TIP49_C,superfamily_P-loop_NTPase	ENSG00000175792		0.458	RUVBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RUVBL1	HGNC	protein_coding	OTTHUMT00000356728.2		0.00	62	0	G			127801415	-1			no_errors	ENST00000322623	ensembl	human	known	74_37	silent	5.41	35	2	SNP	1.000	T
RYR3	6263	genome.wustl.edu	37	15	33993251	33993251	+	Silent	SNP	G	G	A			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr15:33993251G>A	ENST00000389232.4	+	42	6523	c.6453G>A	c.(6451-6453)gcG>gcA	p.A2151A	RYR3_ENST00000415757.3_Silent_p.A2151A	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2151	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ATGAGTTAGCGCTGAGCTTAG	0.567											OREG0023030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													62.0	65.0	64.0					15																	33993251		1996	4183	6179	SO:0001819	synonymous_variant	0				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.6453G>A	15.37:g.33993251G>A		844	O15175|Q15412	Silent	SNP	pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.A2151	ENST00000389232.4	37	c.6453	CCDS45210.1	15																																																																																			RYR3	-	pfam_Ca-rel_channel	ENSG00000198838		0.567	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1	-	0.00	50	0	G			33993251	+1	tier1	-	no_errors	ENST00000389232	ensembl	human	known	74_37	silent	28.30	38	15	SNP	0.007	A
SALL1	6299	genome.wustl.edu	37	16	51175812	51175812	+	Silent	SNP	T	T	C			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr16:51175812T>C	ENST00000251020.4	-	2	354	c.321A>G	c.(319-321)caA>caG	p.Q107Q	SALL1_ENST00000562674.1_5'Flank|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Silent_p.Q10Q|SALL1_ENST00000541611.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	107					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)			TGCAGTCCACTTGATCTGTTT	0.517																																					GBM(103;1352 1446 1855 4775 8890)												0													116.0	119.0	118.0					16																	51175812		2198	4300	6498	SO:0001819	synonymous_variant	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.321A>G	16.37:g.51175812T>C			Q99881|Q9NSC3|Q9P1R0	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q107	ENST00000251020.4	37	c.321	CCDS10747.1	16																																																																																			SALL1	-	NULL	ENSG00000103449		0.517	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SALL1	HGNC	protein_coding	OTTHUMT00000256883.2	-	0.00	109	0	T	NM_002968		51175812	-1	tier1	-	no_errors	ENST00000251020	ensembl	human	known	74_37	silent	39.02	50	32	SNP	0.999	C
SAMD9	54809	genome.wustl.edu	37	7	92733038	92733038	+	Nonsense_Mutation	SNP	G	G	T	rs189020649	byFrequency	TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr7:92733038G>T	ENST00000379958.2	-	3	2642	c.2373C>A	c.(2371-2373)taC>taA	p.Y791*		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	791						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			GTACAGGTACGTATTCCTGAC	0.378																																																	0													114.0	110.0	111.0					7																	92733038		2203	4299	6502	SO:0001587	stop_gained	0			AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"""Sterile alpha motif (SAM) domain containing"""	1348	protein-coding gene	gene with protein product		610456	"""chromosome 7 open reading frame 5"""	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.2373C>A	7.37:g.92733038G>T	ENSP00000369292:p.Tyr791*		A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Nonsense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_P-loop_NTPase,smart_SAM,pfscan_SAM	p.Y791*	ENST00000379958.2	37	c.2373	CCDS34680.1	7	.	.	.	.	.	.	.	.	.	.	G	15.19	2.760880	0.49468	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	.	.	.	4.44	-1.11	0.09840	.	0.434403	0.20596	U	0.089241	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.7988	0.46476	0.4329:0.0:0.5671:0.0	.	.	.	.	X	791	.	ENSP00000369292:Y791X	Y	-	3	2	SAMD9	92570974	0.007000	0.16637	0.893000	0.35052	0.011000	0.07611	-0.250000	0.08830	-0.148000	0.11234	-1.053000	0.02334	TAC	SAMD9	-	superfamily_P-loop_NTPase	ENSG00000205413		0.378	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD9	HGNC	protein_coding	OTTHUMT00000341761.1		0.00	26	0	G	NM_017654		92733038	-1			no_errors	ENST00000379958	ensembl	human	known	74_37	nonsense	5.56	51	3	SNP	0.001	T
SCN4A	6329	genome.wustl.edu	37	17	62018515	62018515	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr17:62018515G>T	ENST00000435607.1	-	24	5203	c.5127C>A	c.(5125-5127)aaC>aaA	p.N1709K	SCN4A_ENST00000578147.1_Missense_Mutation_p.N1709K	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1709					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CCTTGGAGGGGTTGGCTGCCA	0.607																																																	0													148.0	145.0	146.0					17																	62018515		2097	4224	6321	SO:0001583	missense	0			U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.5127C>A	17.37:g.62018515G>T	ENSP00000396320:p.Asn1709Lys		Q15478|Q16447|Q7Z6B1	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2	p.N1709K	ENST00000435607.1	37	c.5127	CCDS45761.1	17	.	.	.	.	.	.	.	.	.	.	G	18.36	3.607455	0.66558	.	.	ENSG00000007314	ENST00000435607	D	0.96396	-4.0	3.89	1.88	0.25563	.	0.000000	0.85682	D	0.000000	D	0.96861	0.8975	M	0.90198	3.095	0.53688	D	0.999976	D	0.55605	0.972	P	0.52309	0.695	D	0.95254	0.8362	10	0.87932	D	0	.	6.9016	0.24285	0.2838:0.0:0.7162:0.0	.	1709	P35499	SCN4A_HUMAN	K	1709	ENSP00000396320:N1709K	ENSP00000396320:N1709K	N	-	3	2	SCN4A	59372247	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	2.309000	0.43699	0.431000	0.26258	0.561000	0.74099	AAC	SCN4A	-	NULL	ENSG00000007314		0.607	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN4A	HGNC	protein_coding		-	0.00	82	0	G	NM_000334		62018515	-1	tier1	-	no_errors	ENST00000435607	ensembl	human	known	74_37	missense	9.52	38	4	SNP	1.000	T
SDK1	221935	genome.wustl.edu	37	7	4153892	4153892	+	Missense_Mutation	SNP	G	G	A	rs376608111		TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr7:4153892G>A	ENST00000404826.2	+	25	3948	c.3809G>A	c.(3808-3810)cGg>cAg	p.R1270Q	SDK1_ENST00000389531.3_Missense_Mutation_p.R1270Q	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1270	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GTGCGGGGCCGGACGCGGGAG	0.647																																																	0								G	GLN/ARG	0,4398		0,0,2199	20.0	20.0	20.0		3809	5.4	0.6	7		20	1,8597		0,1,4298	no	missense	SDK1	NM_152744.3	43	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1270/2214	4153892	1,12995	2199	4299	6498	SO:0001583	missense	0			AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.3809G>A	7.37:g.4153892G>A	ENSP00000385899:p.Arg1270Gln		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,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.R1270Q	ENST00000404826.2	37	c.3809	CCDS34590.1	7	.	.	.	.	.	.	.	.	.	.	G	21.0	4.082381	0.76528	0.0	1.16E-4	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.54279	0.58;0.58	5.38	5.38	0.77491	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.087235	0.46758	D	0.000268	T	0.67021	0.2849	M	0.79805	2.47	0.47949	D	0.999557	D;P	0.59357	0.985;0.883	P;B	0.50082	0.63;0.082	T	0.73780	-0.3875	10	0.87932	D	0	.	19.1613	0.93533	0.0:0.0:1.0:0.0	.	1270;1270	F8W6X9;Q7Z5N4	.;SDK1_HUMAN	Q	1270	ENSP00000385899:R1270Q;ENSP00000374182:R1270Q	ENSP00000374182:R1270Q	R	+	2	0	SDK1	4120418	1.000000	0.71417	0.590000	0.28732	0.560000	0.35617	7.454000	0.80714	2.507000	0.84556	0.655000	0.94253	CGG	SDK1	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000146555		0.647	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK1	HGNC	protein_coding	OTTHUMT00000323702.1	-	0.00	48	0	G	NM_152744		4153892	+1	tier1	-	no_errors	ENST00000404826	ensembl	human	known	74_37	missense	16.67	20	4	SNP	0.867	A
SEMA4G	57715	genome.wustl.edu	37	10	102740951	102740951	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr10:102740951G>T	ENST00000370250.4	+	13	2028	c.1655G>T	c.(1654-1656)aGa>aTa	p.R552I	MRPL43_ENST00000370241.3_Intron|SEMA4G_ENST00000210633.3_Missense_Mutation_p.R557I|MRPL43_ENST00000370242.4_Intron|SEMA4G_ENST00000517724.1_Missense_Mutation_p.R557I|MRPL43_ENST00000318325.2_Intron|RP11-108L7.4_ENST00000447344.1_RNA	NM_017893.3	NP_060363.2	Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	552	PSI.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.R557T(1)		breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		GACATAGAGAGAGGAAATCGA	0.483																																																	1	Substitution - Missense(1)	breast(1)											142.0	115.0	124.0					10																	102740951		2203	4300	6503	SO:0001583	missense	0			AB046839	CCDS7501.1, CCDS55724.1	10q24.31	2013-01-11			ENSG00000095539	ENSG00000095539		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10735	protein-coding gene	gene with protein product							Standard	NM_017893		Approved	FLJ20590, KIAA1619	uc001krw.2	Q9NTN9	OTTHUMG00000018922	ENST00000370250.4:c.1655G>T	10.37:g.102740951G>T	ENSP00000359270:p.Arg552Ile		A1A5C6|A6NJY8|Q58EY1|Q9HCF3	Missense_Mutation	SNP	pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom	p.R557I	ENST00000370250.4	37	c.1670		10	.	.	.	.	.	.	.	.	.	.	G	18.19	3.568081	0.65651	.	.	ENSG00000095539	ENST00000370250;ENST00000517724;ENST00000210633	T;T;T	0.21361	2.01;2.16;2.19	5.25	5.25	0.73442	.	1.202780	0.05668	N	0.588204	T	0.26593	0.0650	L	0.57536	1.79	0.47621	D	0.999471	B;B	0.30146	0.27;0.128	B;B	0.32211	0.142;0.103	T	0.07635	-1.0762	10	0.21540	T	0.41	.	11.3227	0.49433	0.0834:0.0:0.9166:0.0	.	557;557	A1A5C6;Q9NTN9-2	.;.	I	552;557;557	ENSP00000359270:R552I;ENSP00000430175:R557I;ENSP00000210633:R557I	ENSP00000210633:R557I	R	+	2	0	SEMA4G	102730941	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	2.118000	0.41949	2.441000	0.82636	0.305000	0.20034	AGA	SEMA4G	-	superfamily_Plexin-like_fold,smart_Plexin-like_fold	ENSG00000095539		0.483	SEMA4G-002	KNOWN	basic	protein_coding	SEMA4G	HGNC	protein_coding	OTTHUMT00000049920.2		0.00	17	0	G			102740951	+1			no_errors	ENST00000210633	ensembl	human	known	74_37	missense	6.12	46	3	SNP	0.998	T
SEMA6B	10501	genome.wustl.edu	37	19	4550867	4550867	+	Missense_Mutation	SNP	C	C	A			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr19:4550867C>A	ENST00000586582.1	-	11	1375	c.1065G>T	c.(1063-1065)caG>caT	p.Q355H	SEMA6B_ENST00000586965.1_Missense_Mutation_p.Q355H|SEMA6B_ENST00000301293.3_Missense_Mutation_p.Q355H	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	355	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGGGGACTTCTGCTCTCGGA	0.622																																																	0													55.0	57.0	56.0					19																	4550867		2203	4300	6503	SO:0001583	missense	0			AB022433	CCDS12131.1	19p13.3	2008-07-22				ENSG00000167680		"""Semaphorins"""	10739	protein-coding gene	gene with protein product	"""Sema VIb"", ""semaphorin Z"", ""semaphorin VIB"""	608873		SEMAN		9361278	Standard	NM_032108		Approved	semaZ, SEMA-VIB, SEM-SEMA-Y	uc010dud.2	Q9H3T3		ENST00000586582.1:c.1065G>T	19.37:g.4550867C>A	ENSP00000467290:p.Gln355His		A5PKU4|F6IB19|Q9NRK9	Missense_Mutation	SNP	pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,pfscan_Semap_dom	p.Q355H	ENST00000586582.1	37	c.1065	CCDS12131.1	19	.	.	.	.	.	.	.	.	.	.	.	19.00	3.742388	0.69418	.	.	ENSG00000167680	ENST00000301293;ENST00000301292	T	0.12879	2.64	3.61	2.57	0.30868	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.134175	0.51477	U	0.000086	T	0.43875	0.1267	M	0.93808	3.46	0.37704	D	0.924335	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.989	T	0.58222	-0.7674	10	0.87932	D	0	.	10.0163	0.42016	0.0:0.8956:0.0:0.1044	.	355;355	B4DT36;Q9H3T3	.;SEM6B_HUMAN	H	355	ENSP00000301293:Q355H	ENSP00000301292:Q355H	Q	-	3	2	SEMA6B	4501867	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	1.050000	0.30404	0.875000	0.35847	0.478000	0.44815	CAG	SEMA6B	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom	ENSG00000167680		0.622	SEMA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA6B	HGNC	protein_coding	OTTHUMT00000458656.2	-	0.00	141	0	C	NM_032108		4550867	-1	tier1	-	no_errors	ENST00000301293	ensembl	human	known	74_37	missense	7.69	60	5	SNP	1.000	A
SERPINA1	5265	genome.wustl.edu	37	14	94844865	94844865	+	Missense_Mutation	SNP	G	G	T	rs199422209		TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr14:94844865G>T	ENST00000448921.1	-	7	1750	c.1178C>A	c.(1177-1179)cCc>cAc	p.P393H	SERPINA1_ENST00000355814.4_Missense_Mutation_p.P393H|SERPINA1_ENST00000437397.1_Missense_Mutation_p.P393H|SERPINA1_ENST00000449399.3_Missense_Mutation_p.P393H|SERPINA1_ENST00000404814.4_Missense_Mutation_p.P393H|SERPINA1_ENST00000393087.4_Missense_Mutation_p.P393H|SERPINA1_ENST00000393088.4_Missense_Mutation_p.P393H|SERPINA1_ENST00000440909.1_Missense_Mutation_p.P393H	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	393			P -> L (in M-Heerlen). {ECO:0000269|PubMed:2784123}.		acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of proteolysis (GO:0030162)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)	glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		GAAGACAAAGGGTTTGTTGAA	0.493																																																	0			GRCh37	CM890098	SERPINA1	M							122.0	125.0	124.0					14																	94844865		2203	4300	6503	SO:0001583	missense	0			X01683	CCDS9925.1	14q32.1	2014-02-18	2005-08-18		ENSG00000197249	ENSG00000197249		"""Serine (or cysteine) peptidase inhibitors"""	8941	protein-coding gene	gene with protein product	"""protease inhibitor 1 (anti-elastase), alpha-1-antitrypsin"""	107400	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1"""	PI		24172014	Standard	NM_000295		Approved	AAT, A1A, PI1, alpha-1-antitrypsin, A1AT, alpha1AT	uc010aux.3	P01009	OTTHUMG00000150355	ENST00000448921.1:c.1178C>A	14.37:g.94844865G>T	ENSP00000416066:p.Pro393His		A6PX14|B2RDQ8|Q0PVP5|Q13672|Q53XB8|Q5U0M1|Q7M4R2|Q86U18|Q86U19|Q96BF9|Q96ES1|Q9P1P0|Q9UCE6|Q9UCM3	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.P393H	ENST00000448921.1	37	c.1178	CCDS9925.1	14	.	.	.	.	.	.	.	.	.	.	G	19.57	3.853303	0.71719	.	.	ENSG00000197249	ENST00000440909;ENST00000448921;ENST00000437397;ENST00000355814;ENST00000393087;ENST00000393088;ENST00000404814;ENST00000449399	D;D;D;D;D;D;D;D	0.98296	-4.85;-4.85;-4.85;-4.85;-4.85;-4.85;-4.85;-4.85	4.47	4.47	0.54385	Serpin domain (3);Protease inhibitor I4, serpin, conserved site (1);	0.350598	0.24122	N	0.041355	D	0.99453	0.9806	H	0.99325	4.515	0.51767	D	0.999932	D	0.89917	1.0	D	0.97110	1.0	D	0.98003	1.0361	10	0.87932	D	0	.	16.0646	0.80863	0.0:0.0:1.0:0.0	.	393	P01009	A1AT_HUMAN	H	393	ENSP00000390299:P393H;ENSP00000416066:P393H;ENSP00000408474:P393H;ENSP00000348068:P393H;ENSP00000376802:P393H;ENSP00000376803:P393H;ENSP00000385960:P393H;ENSP00000416354:P393H	ENSP00000348068:P393H	P	-	2	0	SERPINA1	93914618	1.000000	0.71417	0.249000	0.24280	0.006000	0.05464	6.447000	0.73465	2.331000	0.79229	0.655000	0.94253	CCC	SERPINA1	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	ENSG00000197249		0.493	SERPINA1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINA1	HGNC	protein_coding	OTTHUMT00000317768.2	-	0.00	77	0	G	NM_001002235		94844865	-1	tier1	-	no_errors	ENST00000355814	ensembl	human	known	74_37	missense	10.53	51	6	SNP	0.999	T
SERPINB5	5268	genome.wustl.edu	37	18	61166491	61166491	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr18:61166491G>T	ENST00000382771.4	+	6	998	c.706G>T	c.(706-708)Gtg>Ttg	p.V236L	SERPINB5_ENST00000464346.1_3'UTR	NM_002639.4	NP_002630.2	P36952	SPB5_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 5	236					cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelium (GO:0002009)|negative regulation of endopeptidase activity (GO:0010951)|prostate gland morphogenesis (GO:0060512)|regulation of epithelial cell proliferation (GO:0050678)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						ACCCAAGGATGTGGAGGATGA	0.473																																																	0													87.0	72.0	77.0					18																	61166491		2203	4300	6503	SO:0001583	missense	0			U04313	CCDS32839.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206075	ENSG00000206075		"""Serine (or cysteine) peptidase inhibitors"""	8949	protein-coding gene	gene with protein product	"""protease inhibitor 5 (maspin)"""	154790	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 5"""	PI5		8290962, 7724531, 16720730, 24172014	Standard	NM_002639		Approved	maspin	uc002liz.4	P36952	OTTHUMG00000141307	ENST00000382771.4:c.706G>T	18.37:g.61166491G>T	ENSP00000372221:p.Val236Leu		B2R6Y4|Q6N0B4|Q8WW89	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom,prints_Serpin_B9/Maspin	p.V236L	ENST00000382771.4	37	c.706	CCDS32839.1	18	.	.	.	.	.	.	.	.	.	.	G	8.351	0.830926	0.16820	.	.	ENSG00000206075	ENST00000382771	T	0.17054	2.3	5.14	0.239	0.15484	Serpin domain (3);	0.485744	0.19653	N	0.109158	T	0.10723	0.0262	N	0.22421	0.69	0.45837	D	0.998708	B	0.02656	0.0	B	0.01281	0.0	T	0.11867	-1.0570	10	0.54805	T	0.06	.	9.6731	0.40023	0.5662:0.0:0.4338:0.0	.	236	P36952	SPB5_HUMAN	L	236	ENSP00000372221:V236L	ENSP00000372221:V236L	V	+	1	0	SERPINB5	59317471	0.922000	0.31269	0.306000	0.25113	0.316000	0.28119	1.608000	0.36847	-0.175000	0.10725	-0.350000	0.07774	GTG	SERPINB5	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	ENSG00000206075		0.473	SERPINB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINB5	HGNC	protein_coding	OTTHUMT00000280629.1	-	0.00	33	0	G	NM_002639		61166491	+1	tier1	-	no_errors	ENST00000382771	ensembl	human	known	74_37	missense	10.53	34	4	SNP	0.141	T
SH3GLB1	51100	genome.wustl.edu	37	1	87181419	87181419	+	Nonsense_Mutation	SNP	A	A	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr1:87181419A>T	ENST00000370558.4	+	2	409	c.85A>T	c.(85-87)Aag>Tag	p.K29*	SH3GLB1_ENST00000482504.1_Nonsense_Mutation_p.K29*|SH3GLB1_ENST00000535010.1_Intron	NM_001206651.1|NM_001206653.1|NM_016009.4	NP_001193580.1|NP_001193582.1|NP_057093.1	Q9Y371	SHLB1_HUMAN	SH3-domain GRB2-like endophilin B1	29	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.|Membrane-binding amphipathic helix.				'de novo' posttranslational protein folding (GO:0051084)|apoptotic process (GO:0006915)|phosphatidic acid biosynthetic process (GO:0006654)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrial outer membrane (GO:0005741)|protein complex (GO:0043234)	fatty acid binding (GO:0005504)|identical protein binding (GO:0042802)|lysophosphatidic acid acyltransferase activity (GO:0042171)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|stomach(1)	11		Lung NSC(277;0.209)		all cancers(265;0.0136)|Epithelial(280;0.0414)		CACAGAAGAAAAGCTTGGCCA	0.318																																																	0													67.0	71.0	70.0					1																	87181419		2203	4300	6503	SO:0001587	stop_gained	0			AF263293	CCDS710.1, CCDS55612.1, CCDS55613.1, CCDS72819.1	1p22.3	2012-04-17	2001-12-04		ENSG00000097033	ENSG00000097033		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	10833	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 70"""	609287	"""SH3-domain, GRB2-like, endophilin B1"""			11161816, 11259440	Standard	NM_016009		Approved	CGI-61, KIAA0491, Bif-1, PPP1R70	uc001dly.3	Q9Y371	OTTHUMG00000010257	ENST00000370558.4:c.85A>T	1.37:g.87181419A>T	ENSP00000473267:p.Lys29*		B4E182|Q5H8U5|Q9H3Z0|Q9NR47|Q9NYA9	Nonsense_Mutation	SNP	pfam_BAR_dom,pfam_BAR_dom-cont,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain	p.K29*	ENST00000370558.4	37	c.85	CCDS710.1	1	.	.	.	.	.	.	.	.	.	.	A	39	7.834358	0.98516	.	.	ENSG00000097033	ENST00000212369;ENST00000482504	.	.	.	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.21	15.0643	0.71980	1.0:0.0:0.0:0.0	.	.	.	.	X	29	.	ENSP00000212369:K29X	K	+	1	0	SH3GLB1	86954007	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.335000	0.96500	1.959000	0.56917	0.477000	0.44152	AAG	SH3GLB1	-	pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom	ENSG00000097033		0.318	SH3GLB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3GLB1	HGNC	protein_coding	OTTHUMT00000028287.2	-	0.00	17	0	A	NM_016009		87181419	+1	tier1	-	no_errors	ENST00000482504	ensembl	human	known	74_37	nonsense	18.60	35	8	SNP	1.000	T
SH3TC1	54436	genome.wustl.edu	37	4	8237172	8237172	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr4:8237172G>T	ENST00000245105.3	+	15	3362	c.3295G>T	c.(3295-3297)Gtg>Ttg	p.V1099L	SH3TC1_ENST00000539824.1_Missense_Mutation_p.V1023L	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	1099										NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						GGCACAGAACGTGGCCCTGTA	0.647																																					NSCLC(145;2298 2623 35616 37297)												0													71.0	74.0	73.0					4																	8237172		2203	4300	6503	SO:0001583	missense	0			AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"""Tetratricopeptide (TTC) repeat domain containing"""	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.3295G>T	4.37:g.8237172G>T	ENSP00000245105:p.Val1099Leu		Q4W5G5	Missense_Mutation	SNP	superfamily_SH3_domain,smart_SH3_domain,smart_TPR_repeat,pfscan_SH3_domain	p.V1099L	ENST00000245105.3	37	c.3295	CCDS3399.1	4	.	.	.	.	.	.	.	.	.	.	G	10.37	1.332381	0.24167	.	.	ENSG00000125089	ENST00000245105;ENST00000539824;ENST00000535265	T;T	0.75477	-0.66;-0.94	3.6	3.6	0.41247	Tetratricopeptide-like helical (1);	0.243305	0.34245	N	0.004138	T	0.62950	0.2470	L	0.29908	0.895	0.25647	N	0.986137	B	0.16603	0.018	B	0.20767	0.031	T	0.52358	-0.8586	10	0.27785	T	0.31	-1.9044	14.9178	0.70812	0.0:0.0:1.0:0.0	.	1099	Q8TE82	S3TC1_HUMAN	L	1099;1023;928	ENSP00000245105:V1099L;ENSP00000441045:V1023L	ENSP00000245105:V1099L	V	+	1	0	SH3TC1	8288072	0.996000	0.38824	0.981000	0.43875	0.047000	0.14425	4.114000	0.57858	2.055000	0.61198	0.549000	0.68633	GTG	SH3TC1	-	NULL	ENSG00000125089		0.647	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SH3TC1	HGNC	protein_coding	OTTHUMT00000206991.2	-	0.00	161	0	G	NM_018986		8237172	+1	tier1	-	no_errors	ENST00000245105	ensembl	human	known	74_37	missense	14.51	165	28	SNP	0.995	T
SIGLEC1	6614	genome.wustl.edu	37	20	3672164	3672164	+	Missense_Mutation	SNP	C	C	A			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr20:3672164C>A	ENST00000344754.4	-	17	4413	c.4414G>T	c.(4414-4416)Ggg>Tgg	p.G1472W	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.G1472W	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1472	Ig-like C2-type 15.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						CCCACAGGCCCAGGGCCACCC	0.687																																																	0													49.0	53.0	52.0					20																	3672164		2203	4299	6502	SO:0001583	missense	0			AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	11127	protein-coding gene	gene with protein product		600751	"""sialoadhesin"""	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.4414G>T	20.37:g.3672164C>A	ENSP00000341141:p.Gly1472Trp		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.G1472W	ENST00000344754.4	37	c.4414	CCDS13060.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.60|10.60	1.397048|1.397048	0.25205|0.25205	.|.	.|.	ENSG00000088827|ENSG00000088827	ENST00000344754;ENST00000202578|ENST00000419548	T;T|.	0.74632|.	-0.86;-0.86|.	5.34|5.34	-3.55|-3.55	0.04639|0.04639	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.952681|.	0.08631|.	N|.	0.917025|.	T|T	0.40719|0.40719	0.1128|0.1128	M|M	0.63843|0.63843	1.955|1.955	0.09310|0.09310	N|N	1|1	D;D|.	0.71674|.	0.998;0.997|.	D;D|.	0.68039|.	0.955;0.928|.	T|T	0.43972|0.43972	-0.9358|-0.9358	10|5	0.62326|.	D|.	0.03|.	.|.	6.4944|6.4944	0.22133|0.22133	0.0:0.3811:0.1246:0.4943|0.0:0.3811:0.1246:0.4943	.|.	1472;1472|.	Q9BZZ2;Q9BZZ2-3|.	SN_HUMAN;.|.	W|L	1472|285	ENSP00000341141:G1472W;ENSP00000202578:G1472W|.	ENSP00000202578:G1472W|.	G|W	-|-	1|2	0|0	SIGLEC1|SIGLEC1	3620164|3620164	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.038000|0.038000	0.13279|0.13279	-0.479000|-0.479000	0.06567|0.06567	-0.884000|-0.884000	0.03976|0.03976	-0.768000|-0.768000	0.03414|0.03414	GGG|TGG	SIGLEC1	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000088827		0.687	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC1	HGNC	protein_coding	OTTHUMT00000077761.2	-	0.00	73	0	C	NM_023068		3672164	-1	tier1	-	no_errors	ENST00000344754	ensembl	human	known	74_37	missense	7.41	50	4	SNP	0.000	A
SLC10A4	201780	genome.wustl.edu	37	4	48485912	48485912	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr4:48485912G>T	ENST00000273861.4	+	1	553	c.334G>T	c.(334-336)Gcc>Tcc	p.A112S		NM_152679.3	NP_689892.1	Q96EP9	NTCP4_HUMAN	solute carrier family 10, member 4	112						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid:sodium symporter activity (GO:0008508)			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	6						CGTGGGCGCCGCCCTGTGCAT	0.731																																																	0													5.0	4.0	5.0					4																	48485912		2003	3919	5922	SO:0001583	missense	0			BC012048	CCDS3482.1	4p12	2013-07-18	2013-07-18		ENSG00000145248	ENSG00000145248		"""Solute carriers"""	22980	protein-coding gene	gene with protein product							Standard	NM_152679		Approved	MGC29802	uc003gyc.2	Q96EP9	OTTHUMG00000102092	ENST00000273861.4:c.334G>T	4.37:g.48485912G>T	ENSP00000273861:p.Ala112Ser		Q8WUZ2	Missense_Mutation	SNP	pfam_BilAc/Na_symport	p.A112S	ENST00000273861.4	37	c.334	CCDS3482.1	4	.	.	.	.	.	.	.	.	.	.	g	35	5.430813	0.96150	.	.	ENSG00000145248	ENST00000273861	T	0.12361	2.69	4.69	4.69	0.59074	.	0.113273	0.64402	D	0.000012	T	0.25568	0.0622	L	0.56340	1.77	0.37966	D	0.933147	D	0.54601	0.967	P	0.52309	0.695	T	0.06807	-1.0806	10	0.66056	D	0.02	-3.5612	17.4082	0.87479	0.0:0.0:1.0:0.0	.	112	Q96EP9	NTCP4_HUMAN	S	112	ENSP00000273861:A112S	ENSP00000273861:A112S	A	+	1	0	SLC10A4	48180669	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.930000	0.75858	2.440000	0.82611	0.486000	0.48141	GCC	SLC10A4	-	pfam_BilAc/Na_symport	ENSG00000145248		0.731	SLC10A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC10A4	HGNC	protein_coding	OTTHUMT00000219926.3	-	0.00	65	0	G	NM_152679		48485912	+1	tier1	-	no_errors	ENST00000273861	ensembl	human	known	74_37	missense	8.16	45	4	SNP	1.000	T
SLC17A5	26503	genome.wustl.edu	37	6	74304869	74304869	+	Missense_Mutation	SNP	G	G	T	rs374866581		TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr6:74304869G>T	ENST00000355773.5	-	11	1687	c.1419C>A	c.(1417-1419)ttC>ttA	p.F473L		NM_012434.4	NP_036566.1	Q9NRA2	S17A5_HUMAN	solute carrier family 17 (acidic sugar transporter), member 5	473					amino acid transport (GO:0006865)|anion transport (GO:0006820)|ion transport (GO:0006811)|proton transport (GO:0015992)|sialic acid transport (GO:0015739)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	sialic acid transmembrane transporter activity (GO:0015136)|sugar:proton symporter activity (GO:0005351)	p.F473L(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ATAGTGTAAAGAAAATGGCAC	0.378																																																	1	Substitution - Missense(1)	large_intestine(1)											139.0	134.0	135.0					6																	74304869		2203	4300	6503	SO:0001583	missense	0			AJ387747	CCDS4981.1	6q13	2013-07-18	2013-07-18		ENSG00000119899	ENSG00000119899		"""Solute carriers"""	10933	protein-coding gene	gene with protein product		604322	"""sialic acid storage disease"", ""solute carrier family 17 (anion/sugar transporter), member 5"""	SIASD		10581036, 8198127	Standard	NM_012434		Approved	AST, SD, ISSD, NSD, SIALIN, SLD	uc003phn.4	Q9NRA2	OTTHUMG00000015039	ENST00000355773.5:c.1419C>A	6.37:g.74304869G>T	ENSP00000348019:p.Phe473Leu		Q5SZ76|Q8NBR5|Q9UGH0	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.F473L	ENST00000355773.5	37	c.1419	CCDS4981.1	6	.	.	.	.	.	.	.	.	.	.	G	14.64	2.595535	0.46318	.	.	ENSG00000119899	ENST00000355773	T	0.54675	0.56	5.3	5.3	0.74995	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.108678	0.64402	D	0.000005	T	0.38268	0.1034	L	0.55481	1.735	0.80722	D	1	B	0.14012	0.009	B	0.09377	0.004	T	0.24048	-1.0171	10	0.40728	T	0.16	.	18.5569	0.91088	0.0:0.0:1.0:0.0	.	473	Q9NRA2	S17A5_HUMAN	L	473	ENSP00000348019:F473L	ENSP00000348019:F473L	F	-	3	2	SLC17A5	74361590	1.000000	0.71417	1.000000	0.80357	0.315000	0.28087	4.117000	0.57877	2.482000	0.83794	0.542000	0.68232	TTC	SLC17A5	-	superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000119899		0.378	SLC17A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC17A5	HGNC	protein_coding	OTTHUMT00000041228.1		0.00	17	0	G			74304869	-1			no_errors	ENST00000355773	ensembl	human	known	74_37	missense	5.77	49	3	SNP	1.000	T
SLC22A12	116085	genome.wustl.edu	37	11	64360946	64360946	+	Silent	SNP	C	C	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr11:64360946C>T	ENST00000377574.1	+	3	1323	c.576C>T	c.(574-576)ttC>ttT	p.F192F	SLC22A12_ENST00000336464.7_Intron|SLC22A12_ENST00000377567.2_Intron|SLC22A12_ENST00000473690.1_Intron|SLC22A12_ENST00000377572.1_Intron	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	192					cellular homeostasis (GO:0019725)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|urate transmembrane transporter activity (GO:0015143)	p.F192F(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27					Losartan(DB00678)|Probenecid(DB01032)	CAGCTGCCTTCGCCCCTGCCT	0.612																																																	1	Substitution - coding silent(1)	lung(1)											102.0	88.0	93.0					11																	64360946		2201	4297	6498	SO:0001819	synonymous_variant	0			AB071863	CCDS8075.1, CCDS60835.1, CCDS60836.1	11q13.1	2013-05-22	2008-01-11		ENSG00000197891	ENSG00000197891		"""Solute carriers"""	17989	protein-coding gene	gene with protein product		607096	"""solute carrier family 22 (organic anion/cation transporter), member 12"""			12024214	Standard	NM_144585		Approved	OAT4L, RST, URAT1	uc009yps.2	Q96S37	OTTHUMG00000045213	ENST00000377574.1:c.576C>T	11.37:g.64360946C>T			B7WPG1|G3XAN7|Q19PF7|Q19PF8|Q19PF9|Q19PG0|Q6UXW3|Q96DT2	Silent	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.F192	ENST00000377574.1	37	c.576	CCDS8075.1	11																																																																																			SLC22A12	-	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000197891		0.612	SLC22A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A12	HGNC	protein_coding	OTTHUMT00000104966.2	-	0.00	59	0	C	NM_144585		64360946	+1	tier1	-	no_errors	ENST00000377574	ensembl	human	known	74_37	silent	79.17	10	38	SNP	0.095	T
SLC29A3	55315	genome.wustl.edu	37	10	73082627	73082627	+	Missense_Mutation	SNP	C	C	T	rs368939297		TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr10:73082627C>T	ENST00000373189.5	+	2	168	c.116C>T	c.(115-117)cCg>cTg	p.P39L	snoU13_ENST00000459444.1_RNA	NM_001174098.1|NM_018344.5	NP_001167569.1|NP_060814.4	Q9BZD2	S29A3_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 3	39					transmembrane transport (GO:0055085)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleoside transmembrane transporter activity (GO:0005337)			endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						CTGGACCGCCCGCCCCCTGGC	0.572																																					Esophageal Squamous(200;1319 2142 18949 31248 39672)												0													80.0	84.0	83.0					10																	73082627		2203	4300	6503	SO:0001583	missense	0			AF326987	CCDS7310.1	10q22.2	2013-07-17	2013-07-17		ENSG00000198246	ENSG00000198246		"""Solute carriers"""	23096	protein-coding gene	gene with protein product		612373	"""solute carrier family 29 (nucleoside transporters), member 3"""			11396612	Standard	NM_018344		Approved	ENT3, FLJ11160	uc001jrr.4	Q9BZD2	OTTHUMG00000018424	ENST00000373189.5:c.116C>T	10.37:g.73082627C>T	ENSP00000362285:p.Pro39Leu		B2RB50|B4E2Z9|B7ZA37|Q0VAM9|Q5T465|Q7RTT8|Q8IVZ0|Q9BWI2|Q9NUS9	Missense_Mutation	SNP	pfam_Eqnu_transpt,prints_Eqnu_transpt	p.P39L	ENST00000373189.5	37	c.116	CCDS7310.1	10	.	.	.	.	.	.	.	.	.	.	C	15.91	2.972152	0.53614	.	.	ENSG00000198246	ENST00000373189	T	0.58652	0.32	5.23	-0.0703	0.13748	.	1.209750	0.05757	N	0.604242	T	0.54581	0.1867	M	0.79123	2.44	0.27819	N	0.941852	B	0.22541	0.071	B	0.09377	0.004	T	0.50303	-0.8844	9	0.66056	D	0.02	-12.5188	3.4222	0.07397	0.3284:0.4516:0.1256:0.0944	.	39	Q9BZD2	S29A3_HUMAN	L	39	ENSP00000362285:P39L	ENSP00000362285:P39L	P	+	2	0	SLC29A3	72752633	0.155000	0.22806	0.001000	0.08648	0.080000	0.17528	1.000000	0.29770	0.199000	0.20427	-0.355000	0.07637	CCG	SLC29A3	-	NULL	ENSG00000198246		0.572	SLC29A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC29A3	HGNC	protein_coding	OTTHUMT00000048544.1	-	0.00	70	0	C	NM_018344		73082627	+1	tier1	-	no_errors	ENST00000373189	ensembl	human	known	74_37	missense	7.69	48	4	SNP	0.003	T
SLC46A3	283537	genome.wustl.edu	37	13	29278197	29278197	+	Missense_Mutation	SNP	C	C	A			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr13:29278197C>A	ENST00000266943.6	-	5	1553	c.1184G>T	c.(1183-1185)gGa>gTa	p.G395V	SLC46A3_ENST00000380814.4_Missense_Mutation_p.G395V|SLC46A3_ENST00000475385.1_5'UTR|RNU6-53P_ENST00000365367.1_RNA	NM_001135919.1|NM_181785.3	NP_001129391.1|NP_861450.1	Q7Z3Q1	S46A3_HUMAN	solute carrier family 46, member 3	395					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15		Lung SC(185;0.0367)		all cancers(112;0.159)		AGTGACTCCTCCAAGTGTTTC	0.413																																																	0													78.0	82.0	80.0					13																	29278197		2203	4300	6503	SO:0001583	missense	0				CCDS9332.1, CCDS45021.1	13q12.3	2013-05-22	2007-03-29		ENSG00000139508	ENSG00000139508		"""Solute carriers"""	27501	protein-coding gene	gene with protein product							Standard	NM_001135919		Approved	DKFZp686A1775, FLJ42613	uc001usj.3	Q7Z3Q1	OTTHUMG00000016650	ENST00000266943.6:c.1184G>T	13.37:g.29278197C>A	ENSP00000266943:p.Gly395Val		Q3ZCV8|Q6NUK5|Q6P9B3|Q6ZVG5|Q96QA1	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.G395V	ENST00000266943.6	37	c.1184	CCDS9332.1	13	.	.	.	.	.	.	.	.	.	.	C	10.20	1.285468	0.23478	.	.	ENSG00000139508	ENST00000266943;ENST00000380814	T;T	0.64618	-0.11;-0.11	5.77	2.81	0.32909	Major facilitator superfamily domain, general substrate transporter (1);	0.300895	0.35407	N	0.003238	T	0.54255	0.1847	L	0.36672	1.1	0.23524	N	0.997491	P;P	0.35793	0.465;0.521	B;B	0.38378	0.178;0.272	T	0.45056	-0.9287	10	0.25106	T	0.35	-6.4184	17.3073	0.87198	0.0:0.3138:0.6862:0.0	.	395;395	Q7Z3Q1-2;Q7Z3Q1	.;S46A3_HUMAN	V	395	ENSP00000266943:G395V;ENSP00000370192:G395V	ENSP00000266943:G395V	G	-	2	0	SLC46A3	28176197	0.000000	0.05858	0.036000	0.18154	0.753000	0.42808	0.372000	0.20467	0.852000	0.35287	0.655000	0.94253	GGA	SLC46A3	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	ENSG00000139508		0.413	SLC46A3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	SLC46A3	HGNC	protein_coding	OTTHUMT00000276111.1	-	0.00	34	0	C	NM_181785		29278197	-1	tier1	-	no_errors	ENST00000266943	ensembl	human	known	74_37	missense	6.85	68	5	SNP	0.188	A
SLC52A3	113278	genome.wustl.edu	37	20	746258	746258	+	Missense_Mutation	SNP	C	C	G			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr20:746258C>G	ENST00000217254.7	-	2	402	c.161G>C	c.(160-162)gGg>gCg	p.G54A	SLC52A3_ENST00000473664.1_5'UTR|SLC52A3_ENST00000381944.3_Missense_Mutation_p.G54A	NM_033409.3	NP_212134.3	Q9NQ40	S52A3_HUMAN	solute carrier family 52 (riboflavin transporter), member 3	54					cellular response to heat (GO:0034605)|riboflavin metabolic process (GO:0006771)|riboflavin transport (GO:0032218)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	riboflavin transporter activity (GO:0032217)										CAGGAGGGGCCCGATGTTGGC	0.642																																																	0													42.0	37.0	38.0					20																	746258		2202	4299	6501	SO:0001583	missense	0			AL118502	CCDS13007.1	20p13	2013-07-17	2013-07-17	2012-02-29	ENSG00000101276	ENSG00000101276		"""Solute carriers"""	16187	protein-coding gene	gene with protein product	"""hypothetical protein LOC113278"""	613350	"""chromosome 20 open reading frame 54"""	C20orf54		11780052, 19122205	Standard	NM_033409		Approved	bA371L19.1, hRFT2, RFVT3	uc002wed.4	Q9NQ40	OTTHUMG00000031647	ENST00000217254.7:c.161G>C	20.37:g.746258C>G	ENSP00000217254:p.Gly54Ala		A8K6P1|Q5W1A0|Q5W1A1|Q8NCL7|Q96GD5	Missense_Mutation	SNP	pfam_Endogenous_retrovirus_rcpt	p.G54A	ENST00000217254.7	37	c.161	CCDS13007.1	20	.	.	.	.	.	.	.	.	.	.	C	22.8	4.340507	0.81911	.	.	ENSG00000101276	ENST00000217254;ENST00000381944	T;T	0.80393	-1.37;-1.37	5.79	4.82	0.62117	.	0.000000	0.85682	D	0.000000	D	0.89269	0.6667	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.89619	0.3847	10	0.48119	T	0.1	-25.6359	15.3752	0.74598	0.0:0.86:0.14:0.0	.	54;54	Q9NQ40-2;Q9NQ40	.;RFT2_HUMAN	A	54	ENSP00000217254:G54A;ENSP00000371370:G54A	ENSP00000217254:G54A	G	-	2	0	C20orf54	694258	1.000000	0.71417	0.130000	0.21974	0.955000	0.61496	6.006000	0.70724	1.399000	0.46721	0.655000	0.94253	GGG	SLC52A3	-	NULL	ENSG00000101276		0.642	SLC52A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC52A3	HGNC	protein_coding	OTTHUMT00000077482.2	-	0.00	73	0	C	NM_033409		746258	-1	tier1	-	no_errors	ENST00000217254	ensembl	human	known	74_37	missense	18.52	44	10	SNP	0.997	G
SLC6A13	6540	genome.wustl.edu	37	12	352972	352972	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr12:352972G>T	ENST00000343164.4	-	3	262	c.210C>A	c.(208-210)ttC>ttA	p.F70L	SLC6A13_ENST00000445055.2_Intron	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	70					neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			AGGGGATGAAGAAGGCACCTG	0.522																																																	0													84.0	80.0	81.0					12																	352972		2203	4300	6503	SO:0001583	missense	0			U76343	CCDS8502.1, CCDS53729.1, CCDS58198.1	12p13.33	2013-07-19	2013-07-19		ENSG00000010379	ENSG00000010379		"""Solute carriers"""	11046	protein-coding gene	gene with protein product	"""GABA transporter 2"""	615097	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 13"""				Standard	NM_001243392		Approved	GAT2	uc001qic.2	Q9NSD5	OTTHUMG00000168053	ENST00000343164.4:c.210C>A	12.37:g.352972G>T	ENSP00000339260:p.Phe70Leu		B4DJL1|Q8TCC2|Q8WW56	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_GABA_GAT2	p.F70L	ENST00000343164.4	37	c.210	CCDS8502.1	12	.	.	.	.	.	.	.	.	.	.	G	23.0	4.363777	0.82353	.	.	ENSG00000010379	ENST00000313154;ENST00000343164	D	0.90324	-2.65	6.17	1.56	0.23342	.	0.000000	0.85682	D	0.000000	D	0.97390	0.9146	H	0.99859	4.855	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.997	D	0.96742	0.9547	10	0.87932	D	0	.	12.1976	0.54307	0.3496:0.0:0.6504:0.0	.	49;70	B4DJS3;Q9NSD5	.;S6A13_HUMAN	L	49;70	ENSP00000339260:F70L	ENSP00000318097:F49L	F	-	3	2	SLC6A13	223233	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.941000	0.40233	0.390000	0.25115	0.655000	0.94253	TTC	SLC6A13	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport	ENSG00000010379		0.522	SLC6A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A13	HGNC	protein_coding	OTTHUMT00000397801.1	-	0.00	32	0	G	NM_016615		352972	-1	tier1	-	no_errors	ENST00000343164	ensembl	human	known	74_37	missense	5.80	65	4	SNP	1.000	T
SLC6A17	388662	genome.wustl.edu	37	1	110740984	110740984	+	Nonsense_Mutation	SNP	C	C	A			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr1:110740984C>A	ENST00000331565.4	+	12	2587	c.2102C>A	c.(2101-2103)tCa>tAa	p.S701*		NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	701					alanine transport (GO:0032328)|glycine transport (GO:0015816)|leucine transport (GO:0015820)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		GGCAGCACATCACCCCTGGAG	0.642																																																	0													91.0	81.0	84.0					1																	110740984		2203	4300	6503	SO:0001587	stop_gained	0				CCDS30799.1	1p13.2	2013-07-19	2013-07-19		ENSG00000197106	ENSG00000197106		"""Solute carriers"""	31399	protein-coding gene	gene with protein product		610299	"""solute carrier family 6 (neurotransmitter transporter), member 17"", ""solute carrier family 6, member 17"""				Standard	NM_001010898		Approved		uc009wfq.3	Q9H1V8	OTTHUMG00000011761	ENST00000331565.4:c.2102C>A	1.37:g.110740984C>A	ENSP00000330199:p.Ser701*		A6NEA8|A8K1R7|B9EIR5|Q5T5Q9	Nonsense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan	p.S701*	ENST00000331565.4	37	c.2102	CCDS30799.1	1	.	.	.	.	.	.	.	.	.	.	C	39	7.710060	0.98447	.	.	ENSG00000197106	ENST00000331565;ENST00000450985	.	.	.	4.5	4.5	0.54988	.	0.550760	0.18070	N	0.152662	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.1784	0.86848	0.0:1.0:0.0:0.0	.	.	.	.	X	701	.	ENSP00000330199:S701X	S	+	2	0	SLC6A17	110542507	0.995000	0.38212	0.384000	0.26145	0.307000	0.27823	4.749000	0.62155	2.048000	0.60808	0.305000	0.20034	TCA	SLC6A17	-	NULL	ENSG00000197106		0.642	SLC6A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A17	HGNC	protein_coding	OTTHUMT00000032550.2		0.00	59	0	C	XM_371280		110740984	+1			no_errors	ENST00000331565	ensembl	human	known	74_37	nonsense	10.53	17	2	SNP	0.251	A
SLC9C2	284525	genome.wustl.edu	37	1	173499144	173499144	+	Missense_Mutation	SNP	C	C	T	rs535826422	byFrequency	TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr1:173499144C>T	ENST00000367714.3	-	18	2635	c.2213G>A	c.(2212-2214)cGc>cAc	p.R738H	SLC9C2_ENST00000536496.1_3'UTR|SLC9C2_ENST00000466087.1_5'UTR	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	738					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)										CAAGCTGAGGCGCTTTTTGAT	0.323													C|||	2	0.000399361	0.0	0.0	5008	,	,		19914	0.0		0.0	False		,,,				2504	0.002																0													126.0	119.0	121.0					1																	173499144		2202	4300	6502	SO:0001583	missense	0			AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"""Solute carriers"""	28664	protein-coding gene	gene with protein product			"""solute carrier family 9, isoform 11"", ""solute carrier family 9, member 11"", ""solute carrier family 9, member C2"""	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.2213G>A	1.37:g.173499144C>T	ENSP00000356687:p.Arg738His		Q86UF3	Missense_Mutation	SNP	pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	p.R738H	ENST00000367714.3	37	c.2213	CCDS1308.1	1	.	.	.	.	.	.	.	.	.	.	C	6.802	0.516994	0.13005	.	.	ENSG00000162753	ENST00000367714	T	0.04015	3.73	5.08	1.19	0.21007	.	0.543240	0.16612	N	0.206863	T	0.01320	0.0043	L	0.51422	1.61	0.23645	N	0.997219	B	0.09022	0.002	B	0.04013	0.001	T	0.48068	-0.9067	10	0.17369	T	0.5	0.1277	7.1989	0.25868	0.0:0.6357:0.0:0.3643	.	738	Q5TAH2	S9A11_HUMAN	H	738	ENSP00000356687:R738H	ENSP00000356687:R738H	R	-	2	0	SLC9A11	171765767	0.003000	0.15002	0.078000	0.20375	0.102000	0.19082	-0.283000	0.08433	-0.023000	0.13963	-0.173000	0.13275	CGC	SLC9C2	-	NULL	ENSG00000162753		0.323	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9C2	HGNC	protein_coding	OTTHUMT00000084205.1	-	0.00	15	0	C	NM_178527		173499144	-1	tier1	-	no_errors	ENST00000367714	ensembl	human	known	74_37	missense	68.63	16	35	SNP	0.481	T
SLIT1	6585	genome.wustl.edu	37	10	98764553	98764553	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr10:98764553G>T	ENST00000266058.4	-	33	3852	c.3607C>A	c.(3607-3609)Ctt>Att	p.L1203I	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.L1203I	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	1203	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		TTGTACAGAAGGATCCCATTG	0.602																																																	0													258.0	184.0	209.0					10																	98764553		2203	4300	6503	SO:0001583	missense	0			AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"""slit (Drosophila) homolog 1"""	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.3607C>A	10.37:g.98764553G>T	ENSP00000266058:p.Leu1203Ile		Q5T0V1|Q8WWZ2|Q9UIL7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_EG-like_dom,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.L1203I	ENST00000266058.4	37	c.3607	CCDS7453.1	10	.	.	.	.	.	.	.	.	.	.	G	20.3	3.974471	0.74246	.	.	ENSG00000187122	ENST00000266058;ENST00000371070	D;D	0.87256	-2.23;-2.23	4.6	2.75	0.32379	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.90985	0.7165	M	0.62209	1.925	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.89745	0.3936	10	0.56958	D	0.05	.	10.779	0.46367	0.1555:0.0:0.8445:0.0	.	1203	O75093	SLIT1_HUMAN	I	1203	ENSP00000266058:L1203I;ENSP00000360109:L1203I	ENSP00000266058:L1203I	L	-	1	0	SLIT1	98754543	1.000000	0.71417	0.999000	0.59377	0.931000	0.56810	6.448000	0.73469	0.568000	0.29311	-0.300000	0.09419	CTT	SLIT1	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000187122		0.602	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT1	HGNC	protein_coding	OTTHUMT00000049636.1	-	0.00	104	0	G	NM_003061		98764553	-1	tier1	-	no_errors	ENST00000266058	ensembl	human	known	74_37	missense	7.41	50	4	SNP	1.000	T
SMPDL3B	27293	genome.wustl.edu	37	1	28282299	28282299	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr1:28282299G>T	ENST00000373894.3	+	6	986	c.795G>T	c.(793-795)aaG>aaT	p.K265N	RP11-460I13.2_ENST00000448015.1_RNA|SMPDL3B_ENST00000549094.1_Missense_Mutation_p.K217N|SMPDL3B_ENST00000373888.4_Missense_Mutation_p.K265N	NM_014474.2	NP_055289.2	Q92485	ASM3B_HUMAN	sphingomyelin phosphodiesterase, acid-like 3B	265					sphingomyelin catabolic process (GO:0006685)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on glycosyl bonds (GO:0016798)|sphingomyelin phosphodiesterase activity (GO:0004767)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	16		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)		TGGTCCGGAAGCATCATCGCG	0.547																																																	0													114.0	98.0	103.0					1																	28282299		2203	4300	6503	SO:0001583	missense	0			Y08134	CCDS30655.1, CCDS30656.1	1p35.3	2008-02-05			ENSG00000130768	ENSG00000130768			21416	protein-coding gene	gene with protein product							Standard	NM_014474		Approved	ASML3B	uc001bpg.3	Q92485	OTTHUMG00000003910	ENST00000373894.3:c.795G>T	1.37:g.28282299G>T	ENSP00000363001:p.Lys265Asn		B7ZB35|Q5T0Z0|Q96CB7	Missense_Mutation	SNP	pfam_PEstase_dom,pirsf_ASM-like_Pdiesterase_prd	p.K265N	ENST00000373894.3	37	c.795	CCDS30655.1	1	.	.	.	.	.	.	.	.	.	.	G	12.28	1.891671	0.33442	.	.	ENSG00000130768	ENST00000373894;ENST00000373888;ENST00000549094;ENST00000412515	D;D;D	0.90955	-2.76;-2.76;-2.76	5.34	4.41	0.53225	Metallophosphoesterase domain (1);	0.139565	0.64402	D	0.000006	D	0.91513	0.7320	L	0.46885	1.475	0.37608	D	0.920836	D;D;D	0.69078	0.992;0.993;0.997	P;D;P	0.62955	0.853;0.909;0.904	D	0.92079	0.5671	10	0.59425	D	0.04	-18.2867	9.2252	0.37402	0.2603:0.0:0.7397:0.0	.	217;265;265	F8VWW8;Q92485;Q92485-2	.;ASM3B_HUMAN;.	N	265;265;217;217	ENSP00000363001:K265N;ENSP00000362995:K265N;ENSP00000449450:K217N	ENSP00000362995:K265N	K	+	3	2	SMPDL3B	28154886	1.000000	0.71417	0.046000	0.18839	0.017000	0.09413	2.242000	0.43106	2.484000	0.83849	0.462000	0.41574	AAG	SMPDL3B	-	pfam_PEstase_dom,pirsf_ASM-like_Pdiesterase_prd	ENSG00000130768		0.547	SMPDL3B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SMPDL3B	HGNC	protein_coding	OTTHUMT00000011170.1	-	0.00	128	0	G	NM_014474		28282299	+1	tier1	-	no_errors	ENST00000373894	ensembl	human	known	74_37	missense	8.93	51	5	SNP	1.000	T
SNAPC4	6621	genome.wustl.edu	37	9	139272097	139272097	+	Silent	SNP	C	C	T	rs533786159		TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr9:139272097C>T	ENST00000298532.2	-	21	4550	c.4182G>A	c.(4180-4182)tcG>tcA	p.S1394S		NM_003086.2	NP_003077.2			small nuclear RNA activating complex, polypeptide 4, 190kDa											biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		AGCCCACCCTCGAAGGTACTG	0.662																																																	0													25.0	28.0	27.0					9																	139272097		2200	4294	6494	SO:0001819	synonymous_variant	0			AF032387	CCDS6998.1	9q34.3	2008-07-21	2002-08-29		ENSG00000165684	ENSG00000165684			11137	protein-coding gene	gene with protein product		602777	"""small nuclear RNA activating complex, polypeptide 4, 190kD"""			9418884	Standard	XM_005266096		Approved	SNAP190, PTFalpha, FLJ13451	uc004chh.3	Q5SXM2	OTTHUMG00000020929	ENST00000298532.2:c.4182G>A	9.37:g.139272097C>T				Silent	SNP	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.S1394	ENST00000298532.2	37	c.4182	CCDS6998.1	9																																																																																			SNAPC4	-	NULL	ENSG00000165684		0.662	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNAPC4	HGNC	protein_coding	OTTHUMT00000055071.1	-	0.00	94	0	C	NM_003086		139272097	-1	tier1	-	no_errors	ENST00000298532	ensembl	human	known	74_37	silent	68.33	19	41	SNP	0.000	T
RPS11	6205	genome.wustl.edu	37	19	50001060	50001060	+	Intron	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr19:50001060G>T	ENST00000270625.2	+	4	306				hsa-mir-150_ENST00000602157.1_5'Flank|RPS11_ENST00000594493.1_Intron|RPS11_ENST00000596873.1_Intron|SNORD35B_ENST00000363660.1_RNA|RPS11_ENST00000599561.1_Intron|MIR150_ENST00000385048.1_RNA	NM_001015.4	NP_001006.1	P62280	RS11_HUMAN	ribosomal protein S11						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	7		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00206)|GBM - Glioblastoma multiforme(486;0.0245)		ACTGATGCCGGAAATGGGGCT	0.532																																																	0													176.0	171.0	172.0					19																	50001060		876	1991	2867	SO:0001627	intron_variant	0			AB007152	CCDS12769.1	19q13.3	2011-08-03			ENSG00000142534	ENSG00000142534		"""S ribosomal proteins"""	10384	protein-coding gene	gene with protein product	"""40S ribosomal protein S11"""	180471				1577483, 9582194	Standard	NM_001015		Approved	S11	uc002pob.2	P62280		ENST00000270625.2:c.224-114G>T	19.37:g.50001060G>T			B2R4F5|P04643|Q498Y6|Q6IRY0	RNA	SNP	-	NULL	ENST00000270625.2	37	NULL	CCDS12769.1	19																																																																																			SNORD35B	-	-	ENSG00000200530		0.532	RPS11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNORD35B	HGNC	protein_coding	OTTHUMT00000465288.1		0.00	72	0	G	NM_001015		50001060	+1			no_errors	ENST00000363660	ensembl	human	known	74_37	rna	5.97	63	4	SNP	0.000	T
SNRNP25	79622	genome.wustl.edu	37	16	105489	105489	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr16:105489G>T	ENST00000383018.3	+	2	261	c.100G>T	c.(100-102)Gcc>Tcc	p.A34S	SNRNP25_ENST00000493672.1_3'UTR|POLR3K_ENST00000293860.5_5'Flank	NM_024571.3	NP_078847.1	Q9BV90	SNR25_HUMAN	small nuclear ribonucleoprotein 25kDa (U11/U12)	34					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)		p.A34S(1)		large_intestine(1)|lung(2)	3						CTCCCAAATAGCCCTAGAATA	0.498																																																	1	Substitution - Missense(1)	large_intestine(1)											207.0	180.0	189.0					16																	105489		2203	4300	6503	SO:0001583	missense	0			BC001381	CCDS10396.1	16p13.3	2011-10-11	2008-10-29	2008-10-29	ENSG00000161981	ENSG00000161981			14161	protein-coding gene	gene with protein product	"""U11/U12 snRNP 25K"""		"""chromosome 16 open reading frame 33"""	C16orf33		15146077	Standard	NM_024571		Approved		uc002cfj.4	Q9BV90	OTTHUMG00000060720	ENST00000383018.3:c.100G>T	16.37:g.105489G>T	ENSP00000372482:p.Ala34Ser		Q1W6H3|Q6IEF8|Q9H5W4	Missense_Mutation	SNP	pfscan_Ubiquitin_supergroup	p.A34S	ENST00000383018.3	37	c.100	CCDS10396.1	16	.	.	.	.	.	.	.	.	.	.	.	15.08	2.728610	0.48833	.	.	ENSG00000161981	ENST00000293861;ENST00000383018;ENST00000417493	.	.	.	5.58	4.63	0.57726	.	0.000000	0.85682	D	0.000000	T	0.75236	0.3822	L	0.61387	1.9	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.75918	-0.3148	9	0.48119	T	0.1	-14.2556	13.1714	0.59599	0.0772:0.0:0.9228:0.0	.	34	Q9BV90	SNR25_HUMAN	S	25;34;25	.	ENSP00000293861:A25S	A	+	1	0	SNRNP25	45489	1.000000	0.71417	1.000000	0.80357	0.303000	0.27691	8.545000	0.90657	1.379000	0.46325	-0.251000	0.11542	GCC	SNRNP25	-	NULL	ENSG00000161981		0.498	SNRNP25-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SNRNP25	HGNC	protein_coding			0.00	51	0	G	NM_024571		105489	+1			no_errors	ENST00000383018	ensembl	human	known	74_37	missense	5.45	52	3	SNP	1.000	T
SON	6651	genome.wustl.edu	37	21	34929491	34929491	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr21:34929491G>T	ENST00000356577.4	+	4	6665	c.6190G>T	c.(6190-6192)Gct>Tct	p.A2064S	SON_ENST00000381692.2_Missense_Mutation_p.A92S|SON_ENST00000300278.4_Missense_Mutation_p.A2064S|SON_ENST00000381679.4_Missense_Mutation_p.A2064S|SON_ENST00000290239.6_Missense_Mutation_p.A2064S	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	2064					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						AATAGCCAAAGCTAATGCAGC	0.393																																																	0													65.0	58.0	60.0					21																	34929491		2203	4300	6503	SO:0001583	missense	0			AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"""G patch domain containing"""	11183	protein-coding gene	gene with protein product	"""NRE-binding protein"", ""negative regulatory element-binding protein"", ""Bax antagonist selected in Saccharomyces 1"""	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.6190G>T	21.37:g.34929491G>T	ENSP00000348984:p.Ala2064Ser		D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	pfam_G_patch_dom,superfamily_WD40_repeat_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_dsRNA-bd_dom	p.A2064S	ENST00000356577.4	37	c.6190	CCDS13629.1	21	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.68|14.68	2.608269|2.608269	0.46527|0.46527	.|.	.|.	ENSG00000159140|ENSG00000159140	ENST00000356577;ENST00000290239;ENST00000381692;ENST00000300278;ENST00000381679;ENST00000421541|ENST00000436227	T;T;T;T|T	0.39056|0.31510	2.75;2.7;2.65;1.1|1.49	5.41|5.41	4.52|4.52	0.55395|0.55395	.|.	0.120124|.	0.37955|.	N|.	0.001873|.	T|T	0.49592|0.49592	0.1566|0.1566	M|M	0.65975|0.65975	2.015|2.015	0.46185|0.46185	D|D	0.998913|0.998913	D;P;P;D;D;P|.	0.61697|.	0.99;0.941;0.952;0.971;0.971;0.948|.	P;B;P;P;P;P|.	0.58077|.	0.832;0.355;0.612;0.832;0.783;0.71|.	T|T	0.55347|0.55347	-0.8155|-0.8155	10|7	0.54805|0.87932	T|D	0.06|0	.|.	16.4227|16.4227	0.83772|0.83772	0.0:0.1317:0.8683:0.0|0.0:0.1317:0.8683:0.0	.|.	2064;92;2064;1745;2064;2064|.	P18583-10;Q6ZRV7;P18583;P18583-2;P18583-3;P18583-6|.	.;.;SON_HUMAN;.;.;.|.	S|N	2064;2064;92;2064;2064;125|1058	ENSP00000348984:A2064S;ENSP00000290239:A2064S;ENSP00000300278:A2064S;ENSP00000371095:A2064S|ENSP00000400985:K1058N	ENSP00000290239:A2064S|ENSP00000400985:K1058N	A|K	+|+	1|3	0|2	SON|SON	33851361|33851361	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	8.818000|8.818000	0.91991|0.91991	1.405000|1.405000	0.46838|0.46838	0.655000|0.655000	0.94253|0.94253	GCT|AAG	SON	-	NULL	ENSG00000159140		0.393	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SON	HGNC	protein_coding	OTTHUMT00000140978.2	-	0.00	32	0	G	NM_138927		34929491	+1	tier1	-	no_errors	ENST00000356577	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	T
SORCS1	114815	genome.wustl.edu	37	10	108459130	108459130	+	Missense_Mutation	SNP	C	C	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr10:108459130C>T	ENST00000263054.6	-	9	1262	c.1255G>A	c.(1255-1257)Gat>Aat	p.D419N	SORCS1_ENST00000344440.6_Missense_Mutation_p.D419N|SORCS1_ENST00000369698.1_5'Flank	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	419					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)	p.D419Y(1)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TGATTCTCATCGGTGCTGATA	0.468																																																	1	Substitution - Missense(1)	large_intestine(1)											183.0	146.0	158.0					10																	108459130		2203	4300	6503	SO:0001583	missense	0			AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.1255G>A	10.37:g.108459130C>T	ENSP00000263054:p.Asp419Asn		A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom	p.D419N	ENST00000263054.6	37	c.1255	CCDS7559.1	10	.	.	.	.	.	.	.	.	.	.	C	21.3	4.124842	0.77436	.	.	ENSG00000108018	ENST00000263054;ENST00000344440	T;T	0.21031	2.03;2.03	6.06	6.06	0.98353	VPS10 (1);	0.000000	0.85682	D	0.000000	T	0.24236	0.0587	L	0.41356	1.27	0.54753	D	0.999988	B;P;P;B;P	0.36378	0.146;0.55;0.55;0.146;0.55	B;B;B;B;B	0.38500	0.048;0.275;0.179;0.081;0.275	T	0.00870	-1.1533	9	.	.	.	-21.8491	20.6397	0.99537	0.0:1.0:0.0:0.0	.	419;419;419;419;419	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	N	419	ENSP00000263054:D419N;ENSP00000345964:D419N	.	D	-	1	0	SORCS1	108449120	1.000000	0.71417	0.998000	0.56505	0.817000	0.46193	7.433000	0.80362	2.880000	0.98712	0.650000	0.86243	GAT	SORCS1	-	smart_VPS10	ENSG00000108018		0.468	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORCS1	HGNC	protein_coding	OTTHUMT00000050232.4	-	0.00	40	0	C	NM_052918		108459130	-1	tier1	-	no_errors	ENST00000344440	ensembl	human	known	74_37	missense	46.38	37	32	SNP	1.000	T
SORCS1	114815	genome.wustl.edu	37	10	108589380	108589380	+	Silent	SNP	C	C	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr10:108589380C>T	ENST00000263054.6	-	3	685	c.678G>A	c.(676-678)ttG>ttA	p.L226L	SORCS1_ENST00000344440.6_Silent_p.L226L	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	226					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		AAATGGTTTTCAAACCAACTT	0.363																																																	0													177.0	163.0	168.0					10																	108589380		2203	4300	6503	SO:0001819	synonymous_variant	0			AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.678G>A	10.37:g.108589380C>T			A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Silent	SNP	pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom	p.L226	ENST00000263054.6	37	c.678	CCDS7559.1	10																																																																																			SORCS1	-	smart_VPS10	ENSG00000108018		0.363	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORCS1	HGNC	protein_coding	OTTHUMT00000050232.4	-	0.00	18	0	C	NM_052918		108589380	-1	tier1	-	no_errors	ENST00000344440	ensembl	human	known	74_37	silent	23.26	66	20	SNP	1.000	T
SORL1	6653	genome.wustl.edu	37	11	121489490	121489490	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr11:121489490G>T	ENST00000260197.7	+	42	5741	c.5612G>T	c.(5611-5613)gGt>gTt	p.G1871V	SORL1_ENST00000534286.1_Missense_Mutation_p.G781V|SORL1_ENST00000527934.1_Missense_Mutation_p.G486V|SORL1_ENST00000525532.1_Missense_Mutation_p.G815V|SORL1_ENST00000532694.1_Missense_Mutation_p.G717V	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1871	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CAGGTTTATGGTATTTTCTAT	0.458																																																	0													224.0	190.0	202.0					11																	121489490		2202	4299	6501	SO:0001583	missense	0			Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"""Fibronectin type III domain containing"""	11185	protein-coding gene	gene with protein product	"""LDLR relative with 11 ligand-binding repeats"""	602005	"""chromosome 11 open reading frame 32"", ""sortilin-related receptor, L(DLR class) A repeats-containing"""	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.5612G>T	11.37:g.121489490G>T	ENSP00000260197:p.Gly1871Val		B2RNX7|Q92856	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.G1871V	ENST00000260197.7	37	c.5612	CCDS8436.1	11	.	.	.	.	.	.	.	.	.	.	G	16.84	3.233685	0.58886	.	.	ENSG00000137642	ENST00000260197;ENST00000525532;ENST00000532694;ENST00000534286;ENST00000527934	T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74	5.53	5.53	0.82687	Fibronectin, type III (2);	0.175801	0.48767	D	0.000174	T	0.59972	0.2233	L	0.34521	1.04	0.80722	D	1	D;D	0.76494	0.999;0.999	D;P	0.68192	0.956;0.892	T	0.62358	-0.6871	10	0.72032	D	0.01	.	19.0609	0.93093	0.0:0.0:1.0:0.0	.	486;1871	E9PKB0;Q92673	.;SORL_HUMAN	V	1871;815;717;781;486	ENSP00000260197:G1871V;ENSP00000434634:G815V;ENSP00000432131:G717V;ENSP00000436447:G781V;ENSP00000435405:G486V	ENSP00000260197:G1871V	G	+	2	0	SORL1	120994700	1.000000	0.71417	0.751000	0.31187	0.436000	0.31835	6.666000	0.74446	2.599000	0.87857	0.655000	0.94253	GGT	SORL1	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3	ENSG00000137642		0.458	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORL1	HGNC	protein_coding	OTTHUMT00000387626.2		0.00	19	0	G	NM_003105		121489490	+1			no_errors	ENST00000260197	ensembl	human	known	74_37	missense	7.27	51	4	SNP	0.997	T
SPG11	80208	genome.wustl.edu	37	15	44951296	44951296	+	Missense_Mutation	SNP	C	C	A			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr15:44951296C>A	ENST00000261866.7	-	3	664	c.648G>T	c.(646-648)ttG>ttT	p.L216F	SPG11_ENST00000427534.2_Missense_Mutation_p.L216F|SPG11_ENST00000535302.2_Missense_Mutation_p.L216F|SPG11_ENST00000558319.1_Missense_Mutation_p.L216F|SPG11_ENST00000559193.1_Missense_Mutation_p.L216F	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	216					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		CTAAACTACTCAAAACAAAAA	0.418																																																	0													117.0	125.0	122.0					15																	44951296		2198	4298	6496	SO:0001583	missense	0				CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"""spatacsin"""	610844	"""KIAA1840"""	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.648G>T	15.37:g.44951296C>A	ENSP00000261866:p.Leu216Phe		A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Missense_Mutation	SNP	NULL	p.L216F	ENST00000261866.7	37	c.648	CCDS10112.1	15	.	.	.	.	.	.	.	.	.	.	C	17.39	3.378796	0.61735	.	.	ENSG00000104133	ENST00000261866;ENST00000535302;ENST00000427534	T;T;T	0.33438	1.41;1.41;1.41	5.93	3.03	0.35002	.	0.000000	0.64402	D	0.000013	T	0.49508	0.1561	M	0.68952	2.095	0.45108	D	0.998124	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.49234	-0.8961	10	0.87932	D	0	.	9.2819	0.37733	0.0:0.7142:0.0:0.2858	.	216;216;216;216	C4B7M2;F5H3N6;B9EK60;Q96JI7	.;.;.;SPTCS_HUMAN	F	216	ENSP00000261866:L216F;ENSP00000445278:L216F;ENSP00000396110:L216F	ENSP00000261866:L216F	L	-	3	2	SPG11	42738588	0.996000	0.38824	1.000000	0.80357	0.892000	0.51952	0.162000	0.16501	0.867000	0.35654	-0.145000	0.13849	TTG	SPG11	-	NULL	ENSG00000104133		0.418	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPG11	HGNC	protein_coding	OTTHUMT00000253927.1		0.00	13	0	C			44951296	-1			no_errors	ENST00000261866	ensembl	human	known	74_37	missense	10.00	36	4	SNP	1.000	A
SPRYD4	283377	genome.wustl.edu	37	12	56862930	56862930	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr12:56862930G>T	ENST00000338146.5	+	2	268	c.193G>T	c.(193-195)Gcc>Tcc	p.A65S	MIP_ENST00000555551.1_5'UTR	NM_207344.3	NP_997227	Q8WW59	SPRY4_HUMAN	SPRY domain containing 4	65	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					mitochondrion (GO:0005739)|nucleus (GO:0005634)				kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)	7						CACCAAGGTGGCCTTGAATGT	0.557																																																	0													55.0	58.0	57.0					12																	56862930		2203	4300	6503	SO:0001583	missense	0			AL832247	CCDS8920.1	12q13.3	2006-03-09				ENSG00000176422			27468	protein-coding gene	gene with protein product							Standard	NM_207344		Approved	DKFZp686N0877	uc001sli.4	Q8WW59		ENST00000338146.5:c.193G>T	12.37:g.56862930G>T	ENSP00000338034:p.Ala65Ser		A8K7A5	Missense_Mutation	SNP	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin	p.A65S	ENST00000338146.5	37	c.193	CCDS8920.1	12	.	.	.	.	.	.	.	.	.	.	G	15.09	2.729957	0.48833	.	.	ENSG00000176422	ENST00000338146	T	0.60040	0.22	5.46	4.56	0.56223	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	0.156141	0.56097	D	0.000022	T	0.33469	0.0864	N	0.11560	0.145	0.37217	D	0.905057	B	0.27229	0.172	B	0.16289	0.015	T	0.36383	-0.9750	10	0.59425	D	0.04	-13.7219	7.6832	0.28526	0.0857:0.2802:0.6341:0.0	.	65	Q8WW59	SPRY4_HUMAN	S	65	ENSP00000338034:A65S	ENSP00000338034:A65S	A	+	1	0	SPRYD4	55149197	1.000000	0.71417	0.992000	0.48379	0.965000	0.64279	4.273000	0.58914	2.735000	0.93741	0.561000	0.74099	GCC	SPRYD4	-	superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY	ENSG00000176422		0.557	SPRYD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SPRYD4	HGNC	protein_coding			0.00	60	0	G	NM_207344		56862930	+1			no_errors	ENST00000338146	ensembl	human	known	74_37	missense	20.00	12	3	SNP	1.000	T
SPTA1	6708	genome.wustl.edu	37	1	158604351	158604351	+	Silent	SNP	A	A	G			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr1:158604351A>G	ENST00000368147.4	-	39	5727	c.5547T>C	c.(5545-5547)gaT>gaC	p.D1849D		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1849					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)					CAGCTAATGTATCTCCACAAT	0.388																																																	0													197.0	180.0	185.0					1																	158604351		1939	4141	6080	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.5547T>C	1.37:g.158604351A>G			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.D1849	ENST00000368147.4	37	c.5547	CCDS41423.1	1																																																																																			SPTA1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000163554		0.388	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTA1	HGNC	protein_coding	OTTHUMT00000051851.3		0.00	20	0	A	NM_003126		158604351	-1			no_errors	ENST00000368147	ensembl	human	known	74_37	silent	10.00	36	4	SNP	0.983	G
SPTA1	6708	genome.wustl.edu	37	1	158623151	158623151	+	Missense_Mutation	SNP	A	A	G			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr1:158623151A>G	ENST00000368147.4	-	22	3281	c.3101T>C	c.(3100-3102)cTg>cCg	p.L1034P		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1034	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				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)					ATCGTGGGCCAGTCTTCTGAC	0.552																																																	0													99.0	100.0	99.0					1																	158623151		2035	4184	6219	SO:0001583	missense	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.3101T>C	1.37:g.158623151A>G	ENSP00000357129:p.Leu1034Pro		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	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.L1034P	ENST00000368147.4	37	c.3101	CCDS41423.1	1	.	.	.	.	.	.	.	.	.	.	A	15.69	2.908147	0.52333	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.35048	1.33;1.33	5.15	5.15	0.70609	Src homology-3 domain (3);Spectrin alpha chain, SH3 domain (1);	0.000000	0.26535	N	0.023825	T	0.43612	0.1255	M	0.62016	1.91	0.80722	D	1	D	0.69078	0.997	D	0.68943	0.961	T	0.25082	-1.0142	10	0.25106	T	0.35	.	13.9514	0.64118	1.0:0.0:0.0:0.0	.	1034	P02549	SPTA1_HUMAN	P	1034	ENSP00000357130:L1034P;ENSP00000357129:L1034P	ENSP00000357129:L1034P	L	-	2	0	SPTA1	156889775	1.000000	0.71417	0.942000	0.38095	0.008000	0.06430	8.402000	0.90205	2.174000	0.68829	0.533000	0.62120	CTG	SPTA1	-	superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	ENSG00000163554		0.552	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTA1	HGNC	protein_coding	OTTHUMT00000051851.3		0.00	40	0	A	NM_003126		158623151	-1			no_errors	ENST00000368147	ensembl	human	known	74_37	missense	9.76	37	4	SNP	1.000	G
SPTA1	6708	genome.wustl.edu	37	1	158651365	158651365	+	Missense_Mutation	SNP	C	C	A			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr1:158651365C>A	ENST00000368147.4	-	4	663	c.483G>T	c.(481-483)caG>caT	p.Q161H		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	161					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)					GTACATACTGCTGGAACTTCA	0.537																																																	0													206.0	209.0	208.0					1																	158651365		2031	4194	6225	SO:0001583	missense	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.483G>T	1.37:g.158651365C>A	ENSP00000357129:p.Gln161His		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	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.Q161H	ENST00000368147.4	37	c.483	CCDS41423.1	1	.	.	.	.	.	.	.	.	.	.	C	7.535	0.659509	0.14645	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.55930	0.49;0.49	5.15	0.962	0.19643	.	.	.	.	.	T	0.10680	0.0261	N	0.17800	0.525	0.26423	N	0.97608	B	0.06786	0.001	B	0.12837	0.008	T	0.28808	-1.0032	9	0.15499	T	0.54	.	1.7561	0.02982	0.3399:0.3785:0.1209:0.1606	.	161	P02549	SPTA1_HUMAN	H	161	ENSP00000357130:Q161H;ENSP00000357129:Q161H	ENSP00000357129:Q161H	Q	-	3	2	SPTA1	156917989	0.984000	0.35163	0.715000	0.30552	0.151000	0.21798	0.179000	0.16840	0.003000	0.14656	0.563000	0.77884	CAG	SPTA1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000163554		0.537	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTA1	HGNC	protein_coding	OTTHUMT00000051851.3	-	0.00	44	0	C	NM_003126		158651365	-1	tier1	-	no_errors	ENST00000368147	ensembl	human	known	74_37	missense	5.97	62	4	SNP	0.998	A
SPTBN5	51332	genome.wustl.edu	37	15	42168829	42168829	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr15:42168829G>T	ENST00000320955.6	-	20	4095	c.3868C>A	c.(3868-3870)Cag>Aag	p.Q1290K		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1290					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		TGGATACTCTGCAGCTGCTCT	0.672																																																	0													23.0	27.0	26.0					15																	42168829		2008	4145	6153	SO:0001583	missense	0			AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.3868C>A	15.37:g.42168829G>T	ENSP00000317790:p.Gln1290Lys			Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.Q1290K	ENST00000320955.6	37	c.3868		15	.	.	.	.	.	.	.	.	.	.	.	10.06	1.245674	0.22796	.	.	ENSG00000137877	ENST00000320955	T	0.35048	1.33	4.96	2.95	0.34219	.	1.094560	0.06977	N	0.819209	T	0.31857	0.0810	M	0.62723	1.935	0.09310	N	1	B	0.22909	0.077	B	0.25759	0.063	T	0.44251	-0.9340	10	0.08179	T	0.78	.	5.5641	0.17160	0.1127:0.2216:0.6656:0.0	.	1290	Q9NRC6	SPTN5_HUMAN	K	1290	ENSP00000317790:Q1290K	ENSP00000317790:Q1290K	Q	-	1	0	SPTBN5	39956121	0.142000	0.22610	0.966000	0.40874	0.480000	0.33159	0.757000	0.26433	2.288000	0.76882	0.491000	0.48974	CAG	SPTBN5	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000137877		0.672	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	SPTBN5	HGNC	protein_coding	OTTHUMT00000420237.1	-	0.00	50	0	G	NM_016642		42168829	-1	tier1	-	no_errors	ENST00000320955	ensembl	human	known	74_37	missense	11.76	30	4	SNP	0.446	T
STAB1	23166	genome.wustl.edu	37	3	52536690	52536690	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr3:52536690G>T	ENST00000321725.6	+	6	606	c.530G>T	c.(529-531)gGg>gTg	p.G177V		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	177	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)	p.G177V(1)		breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GGGCCACGTGGGGATGGAAGC	0.632																																																	1	Substitution - Missense(1)	lung(1)											114.0	93.0	100.0					3																	52536690		2203	4300	6503	SO:0001583	missense	0			AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.530G>T	3.37:g.52536690G>T	ENSP00000312946:p.Gly177Val		A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EG-like_dom,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd_dom,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link	p.G177V	ENST00000321725.6	37	c.530	CCDS33768.1	3	.	.	.	.	.	.	.	.	.	.	G	16.12	3.032660	0.54790	.	.	ENSG00000010327	ENST00000321725	T	0.12569	2.67	4.79	4.79	0.61399	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	T	0.30823	0.0777	L	0.52206	1.635	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.01553	-1.1326	10	0.62326	D	0.03	.	13.3667	0.60689	0.0:0.0:1.0:0.0	.	177;177	Q9NY15;Q9NY15-2	STAB1_HUMAN;.	V	177	ENSP00000312946:G177V	ENSP00000312946:G177V	G	+	2	0	STAB1	52511730	1.000000	0.71417	0.319000	0.25293	0.603000	0.37013	5.004000	0.63966	2.210000	0.71456	0.561000	0.74099	GGG	STAB1	-	smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom	ENSG00000010327		0.632	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB1	HGNC	protein_coding	OTTHUMT00000351380.2		0.00	61	0	G	NM_015136		52536690	+1			no_errors	ENST00000321725	ensembl	human	known	74_37	missense	10.71	25	3	SNP	0.591	T
STIL	6491	genome.wustl.edu	37	1	47717561	47717561	+	Silent	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr1:47717561G>T	ENST00000360380.3	-	18	3474	c.3111C>A	c.(3109-3111)atC>atA	p.I1037I	STIL_ENST00000243182.6_Silent_p.I1037I|STIL_ENST00000371877.3_Silent_p.I1038I|STIL_ENST00000396221.2_Silent_p.I1020I|STIL_ENST00000337817.5_Silent_p.I1037I	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	1037					cell proliferation (GO:0008283)|determination of left/right symmetry (GO:0007368)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|notochord development (GO:0030903)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				TTAATCCAGAGATCACTGCTT	0.413																																																	0													65.0	65.0	65.0					1																	47717561		2203	4299	6502	SO:0001819	synonymous_variant	0			M74558	CCDS548.1, CCDS41329.1, CCDS72785.1, CCDS72786.1	1p32	2010-02-09	2005-11-29	2005-11-29	ENSG00000123473	ENSG00000123473			10879	protein-coding gene	gene with protein product		181590	"""TAL1 (SCL) interrupting locus"""	SIL		2209547	Standard	NM_003035		Approved	MCPH7	uc001crd.1	Q15468	OTTHUMG00000007851	ENST00000360380.3:c.3111C>A	1.37:g.47717561G>T			Q5T0C5|Q68CN9	Silent	SNP	NULL	p.I1038	ENST00000360380.3	37	c.3114	CCDS548.1	1																																																																																			STIL	-	NULL	ENSG00000123473		0.413	STIL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	STIL	HGNC	protein_coding	OTTHUMT00000021649.2		0.00	16	0	G	NM_003035		47717561	-1			no_errors	ENST00000371877	ensembl	human	known	74_37	silent	11.43	31	4	SNP	1.000	T
STYX	6815	genome.wustl.edu	37	14	53224469	53224469	+	Missense_Mutation	SNP	C	C	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr14:53224469C>T	ENST00000354586.4	+	7	642	c.349C>T	c.(349-351)Ctt>Ttt	p.L117F	STYX_ENST00000556861.1_Intron|STYX_ENST00000442123.2_Missense_Mutation_p.L117F	NM_145251.3	NP_660294.1	Q8WUJ0	STYX_HUMAN	serine/threonine/tyrosine interacting protein	117	Tyrosine-protein phosphatase.				MAPK export from nucleus (GO:0045204)|protein dephosphorylation (GO:0006470)|regulation of ERK1 and ERK2 cascade (GO:0070372)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.L117I(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5	Breast(41;0.176)					AGGAAAAGTTCTTGTGCATGG	0.318																																																	1	Substitution - Missense(1)	large_intestine(1)											69.0	74.0	72.0					14																	53224469		2203	4295	6498	SO:0001583	missense	0				CCDS9711.1	14q22.1	2011-06-09	2001-11-29		ENSG00000198252	ENSG00000198252		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	11447	protein-coding gene	gene with protein product		615814	"""serine/threonine/tyrosine-interacting protein"""			7592916	Standard	NM_145251		Approved		uc010tqy.2	Q8WUJ0	OTTHUMG00000140306	ENST00000354586.4:c.349C>T	14.37:g.53224469C>T	ENSP00000346599:p.Leu117Phe		B9EJG0|Q99850	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.L117F	ENST00000354586.4	37	c.349	CCDS9711.1	14	.	.	.	.	.	.	.	.	.	.	C	27.8	4.864663	0.91511	.	.	ENSG00000198252	ENST00000442123;ENST00000354586	T;T	0.69306	-0.39;-0.39	5.58	5.58	0.84498	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	0.84160	0.5411	M	0.83223	2.63	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85109	0.0962	10	0.62326	D	0.03	.	19.9414	0.97163	0.0:1.0:0.0:0.0	.	117	Q8WUJ0	STYX_HUMAN	F	117	ENSP00000403214:L117F;ENSP00000346599:L117F	ENSP00000346599:L117F	L	+	1	0	STYX	52294219	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.628000	0.74262	2.779000	0.95612	0.650000	0.86243	CTT	STYX	-	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	ENSG00000198252		0.318	STYX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STYX	HGNC	protein_coding	OTTHUMT00000276902.1		0.00	17	0	C	NM_145251		53224469	+1			no_errors	ENST00000354586	ensembl	human	known	74_37	missense	5.41	35	2	SNP	1.000	T
SVOPL	136306	genome.wustl.edu	37	7	138363230	138363230	+	Silent	SNP	G	G	A	rs374224696	byFrequency	TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr7:138363230G>A	ENST00000419765.3	-	2	156	c.123C>T	c.(121-123)atC>atT	p.I41I	SVOPL_ENST00000421622.1_Silent_p.I41I	NM_001139456.1	NP_001132928.1	Q8N434	SVOPL_HUMAN	SVOP-like	41						integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						GCCCGAAGCCGATAGTCTCCA	0.483													G|||	2	0.000399361	0.0008	0.0	5008	,	,		19471	0.001		0.0	False		,,,				2504	0.0																0								G		1,1383		0,1,691	56.0	58.0	58.0		123	-3.0	0.6	7		58	0,3182		0,0,1591	no	coding-synonymous	SVOPL	NM_001139456.1		0,1,2282	AA,AG,GG		0.0,0.0723,0.0219		41/493	138363230	1,4565	692	1591	2283	SO:0001819	synonymous_variant	0			BC036796	CCDS5848.1, CCDS47721.1	7q34	2011-07-12	2007-04-04		ENSG00000157703	ENSG00000157703			27034	protein-coding gene	gene with protein product		611700	"""SV2 related protein homolog (rat)-like"""				Standard	NM_001139456		Approved	MGC46715	uc011kqh.2	Q8N434	OTTHUMG00000155870	ENST00000419765.3:c.123C>T	7.37:g.138363230G>A				Silent	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.I41	ENST00000419765.3	37	c.123	CCDS47721.1	7																																																																																			SVOPL	-	superfamily_MFS_dom_general_subst_transpt	ENSG00000157703		0.483	SVOPL-005	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SVOPL	HGNC	protein_coding	OTTHUMT00000342092.4	-	0.00	52	0	G	NM_174959		138363230	-1	tier1	-	no_errors	ENST00000419765	ensembl	human	novel	74_37	silent	5.48	69	4	SNP	0.785	A
SYDE2	84144	genome.wustl.edu	37	1	85648339	85648339	+	Silent	SNP	A	A	G			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr1:85648339A>G	ENST00000341460.5	-	3	2035	c.1986T>C	c.(1984-1986)gcT>gcC	p.A662A		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	662					activation of Rho GTPase activity (GO:0032862)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		AATGCCTAAAAGCATCAATGT	0.338																																																	0													88.0	81.0	83.0					1																	85648339		1863	4092	5955	SO:0001819	synonymous_variant	0			AL834286	CCDS44169.1	1p22.3	2008-02-05		2005-08-09	ENSG00000097096	ENSG00000097096			25841	protein-coding gene	gene with protein product							Standard	NM_032184		Approved	FLJ13815	uc009wcm.3	Q5VT97	OTTHUMG00000009956	ENST00000341460.5:c.1986T>C	1.37:g.85648339A>G			Q5VT96|Q8NDB8|Q9H8A6	Silent	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.A662	ENST00000341460.5	37	c.1986	CCDS44169.1	1																																																																																			SYDE2	-	NULL	ENSG00000097096		0.338	SYDE2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SYDE2	HGNC	protein_coding	OTTHUMT00000127989.2	-	0.00	12	0	A			85648339	-1	tier1	-	no_errors	ENST00000341460	ensembl	human	known	74_37	silent	52.63	9	10	SNP	0.995	G
TDP1	55775	genome.wustl.edu	37	14	90450883	90450883	+	Missense_Mutation	SNP	C	C	A			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr14:90450883C>A	ENST00000335725.4	+	9	1158	c.908C>A	c.(907-909)cCa>cAa	p.P303Q	TDP1_ENST00000555880.1_Missense_Mutation_p.P303Q|TDP1_ENST00000357382.3_Missense_Mutation_p.P64Q|TDP1_ENST00000393452.3_Missense_Mutation_p.P303Q|TDP1_ENST00000393454.2_Missense_Mutation_p.P303Q	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	303					cell death (GO:0008219)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|single strand break repair (GO:0000012)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	3'-tyrosyl-DNA phosphodiesterase activity (GO:0017005)|double-stranded DNA binding (GO:0003690)|exonuclease activity (GO:0004527)|single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		CCCTTATACCCACGAATTGCT	0.398								Repair of DNA-protein crosslinks																																									0													164.0	159.0	161.0					14																	90450883		2203	4300	6503	SO:0001583	missense	0			AF182002	CCDS9888.1	14q32.11	2008-08-11				ENSG00000042088			18884	protein-coding gene	gene with protein product		607198				11839309, 12244316	Standard	XM_005267847		Approved	FLJ11090, SCAN1	uc001xxz.3	Q9NUW8		ENST00000335725.4:c.908C>A	14.37:g.90450883C>A	ENSP00000337353:p.Pro303Gln		Q2HXX4|Q86TV8|Q96BK7|Q9NZM7|Q9NZM8	Missense_Mutation	SNP	pfam_Tyr-DNA_phospho	p.P303Q	ENST00000335725.4	37	c.908	CCDS9888.1	14	.	.	.	.	.	.	.	.	.	.	C	17.59	3.427839	0.62733	.	.	ENSG00000042088	ENST00000393452;ENST00000393454;ENST00000553617;ENST00000335725;ENST00000357382;ENST00000555880	T;T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63;0.63	5.47	5.47	0.80525	.	0.055092	0.64402	D	0.000001	T	0.61540	0.2355	H	0.94345	3.525	0.80722	D	1	P;P;P;P	0.47910	0.88;0.902;0.579;0.784	B;B;B;B	0.38020	0.171;0.263;0.263;0.178	T	0.76198	-0.3047	10	0.59425	D	0.04	-12.8364	18.9274	0.92550	0.0:1.0:0.0:0.0	.	303;303;64;303	G3V2F4;E7EPD8;Q86TV8;Q9NUW8	.;.;.;TYDP1_HUMAN	Q	303;303;204;303;64;303	ENSP00000377098:P303Q;ENSP00000377099:P303Q;ENSP00000450708:P204Q;ENSP00000337353:P303Q;ENSP00000349952:P64Q;ENSP00000450628:P303Q	ENSP00000337353:P303Q	P	+	2	0	TDP1	89520636	1.000000	0.71417	1.000000	0.80357	0.636000	0.38137	5.560000	0.67332	2.571000	0.86741	0.655000	0.94253	CCA	TDP1	-	pfam_Tyr-DNA_phospho	ENSG00000042088		0.398	TDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TDP1	HGNC	protein_coding	OTTHUMT00000411239.1		0.00	19	0	C	NM_018319		90450883	+1			no_errors	ENST00000335725	ensembl	human	known	74_37	missense	11.43	31	4	SNP	1.000	A
TECPR2	9895	genome.wustl.edu	37	14	102931501	102931501	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr14:102931501G>T	ENST00000359520.7	+	17	3890	c.3664G>T	c.(3664-3666)Gca>Tca	p.A1222S	TECPR2_ENST00000558678.1_Missense_Mutation_p.A1222S	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	1222					autophagy (GO:0006914)|cell death (GO:0008219)					breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						GACAAGCTTGGCATGTGGAAA	0.423																																																	0													136.0	136.0	136.0					14																	102931501		2203	4300	6503	SO:0001583	missense	0			AB019441	CCDS32162.1, CCDS58337.1	14q32.33	2009-02-27	2009-02-27	2009-02-27		ENSG00000196663			19957	protein-coding gene	gene with protein product		615000	"""KIAA0329"""	KIAA0329		9205841	Standard	NM_014844		Approved		uc001ylw.2	O15040		ENST00000359520.7:c.3664G>T	14.37:g.102931501G>T	ENSP00000352510:p.Ala1222Ser		A5PKY3|A6NFY9|A7E2X3|H0YMM9|Q9UEG6	Missense_Mutation	SNP	pfam_Beta-propeller_rpt_TECPR,superfamily_WD40_repeat_dom,superfamily_RCC1/BLIP-II,smart_WD40_repeat,smart_Beta-propeller_rpt_TECPR	p.A1222S	ENST00000359520.7	37	c.3664	CCDS32162.1	14	.	.	.	.	.	.	.	.	.	.	G	4.305	0.055845	0.08291	.	.	ENSG00000196663	ENST00000359520	D	0.81659	-1.52	5.87	2.73	0.32206	.	0.325627	0.32401	N	0.006159	T	0.50752	0.1634	N	0.02916	-0.46	0.32255	N	0.570855	B;B;B	0.13145	0.0;0.0;0.007	B;B;B	0.08055	0.001;0.002;0.003	T	0.51702	-0.8672	10	0.02654	T	1	.	8.2855	0.31926	0.1295:0.0:0.5645:0.306	.	405;1222;1222	B4DSD3;A5PKY3;O15040	.;.;TCPR2_HUMAN	S	1222	ENSP00000352510:A1222S	ENSP00000352510:A1222S	A	+	1	0	TECPR2	102001254	0.998000	0.40836	0.971000	0.41717	0.984000	0.73092	0.563000	0.23547	0.807000	0.34208	0.655000	0.94253	GCA	TECPR2	-	superfamily_RCC1/BLIP-II,smart_Beta-propeller_rpt_TECPR	ENSG00000196663		0.423	TECPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TECPR2	HGNC	protein_coding	OTTHUMT00000415056.2		0.00	36	0	G	NM_014844		102931501	+1			no_errors	ENST00000359520	ensembl	human	known	74_37	missense	7.27	51	4	SNP	0.890	T
TECTA	7007	genome.wustl.edu	37	11	121032794	121032794	+	Missense_Mutation	SNP	C	C	A			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr11:121032794C>A	ENST00000392793.1	+	16	5258	c.4987C>A	c.(4987-4989)Ccc>Acc	p.P1663T	TECTA_ENST00000264037.2_Missense_Mutation_p.P1663T			O75443	TECTA_HUMAN	tectorin alpha	1663	VWFD 4. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.P1663S(1)	TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		ACCTCTTGCCCCCAGCTGCAA	0.507																																																	1	Substitution - Missense(1)	lung(1)											104.0	98.0	100.0					11																	121032794		2203	4299	6502	SO:0001583	missense	0			AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.4987C>A	11.37:g.121032794C>A	ENSP00000376543:p.Pro1663Thr			Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom	p.P1663T	ENST00000392793.1	37	c.4987	CCDS8434.1	11	.	.	.	.	.	.	.	.	.	.	C	12.18	1.861776	0.32884	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.35236	1.32;1.32	5.27	4.35	0.52113	von Willebrand factor, type D domain (1);	0.254697	0.32459	N	0.006065	T	0.19406	0.0466	N	0.11560	0.145	0.26109	N	0.980712	B	0.14012	0.009	B	0.10450	0.005	T	0.09378	-1.0677	10	0.35671	T	0.21	.	10.1011	0.42507	0.0:0.8475:0.0:0.1525	.	1663	O75443	TECTA_HUMAN	T	1663	ENSP00000376543:P1663T;ENSP00000264037:P1663T	ENSP00000264037:P1663T	P	+	1	0	TECTA	120538004	0.009000	0.17119	0.987000	0.45799	0.943000	0.58893	1.164000	0.31810	2.448000	0.82819	0.650000	0.86243	CCC	TECTA	-	NULL	ENSG00000109927		0.507	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TECTA	HGNC	protein_coding	OTTHUMT00000313850.1		0.00	34	0	C	NM_005422		121032794	+1			no_errors	ENST00000264037	ensembl	human	known	74_37	missense	8.57	32	3	SNP	0.959	A
TECTA	7007	genome.wustl.edu	37	11	121058567	121058567	+	Missense_Mutation	SNP	T	T	C			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr11:121058567T>C	ENST00000392793.1	+	21	6297	c.6026T>C	c.(6025-6027)aTt>aCt	p.I2009T	TECTA_ENST00000264037.2_Missense_Mutation_p.I2009T			O75443	TECTA_HUMAN	tectorin alpha	2009	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.		I -> T (in DFNA12). {ECO:0000269|PubMed:21520338}.		cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GATAACACCATTGGCATCGAG	0.428																																																	0													185.0	164.0	171.0					11																	121058567		2203	4299	6502	SO:0001583	missense	0			AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.6026T>C	11.37:g.121058567T>C	ENSP00000376543:p.Ile2009Thr			Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom	p.I2009T	ENST00000392793.1	37	c.6026	CCDS8434.1	11	.	.	.	.	.	.	.	.	.	.	T	22.1	4.243402	0.79912	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	D;D	0.82167	-1.58;-1.58	5.7	5.7	0.88788	Zona pellucida sperm-binding protein (3);	0.000000	0.85682	D	0.000000	D	0.91573	0.7338	M	0.83774	2.66	0.54753	D	0.999988	D	0.76494	0.999	D	0.85130	0.997	D	0.92759	0.6222	10	0.87932	D	0	.	15.6323	0.76920	0.0:0.0:0.0:1.0	.	2009	O75443	TECTA_HUMAN	T	2009	ENSP00000376543:I2009T;ENSP00000264037:I2009T	ENSP00000264037:I2009T	I	+	2	0	TECTA	120563777	1.000000	0.71417	0.990000	0.47175	0.800000	0.45204	7.662000	0.83803	2.165000	0.68154	0.454000	0.30748	ATT	TECTA	-	pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom	ENSG00000109927		0.428	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TECTA	HGNC	protein_coding	OTTHUMT00000313850.1	-	0.00	28	0	T	NM_005422		121058567	+1	tier1	-	no_errors	ENST00000264037	ensembl	human	known	74_37	missense	22.41	45	13	SNP	1.000	C
TEKT4	150483	genome.wustl.edu	37	2	95542477	95542477	+	Missense_Mutation	SNP	G	G	A	rs372239927		TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr2:95542477G>A	ENST00000295201.4	+	6	1408	c.1271G>A	c.(1270-1272)cGc>cAc	p.R424H	AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	424					cell projection organization (GO:0030030)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						CATCGTACTCGCTACCCCACC	0.592																																																	0								G	HIS/ARG	0,4406		0,0,2203	74.0	51.0	59.0		1271	0.3	0.7	2		59	1,8599		0,1,4299	no	missense	TEKT4	NM_144705.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	424/436	95542477	1,13005	2203	4300	6503	SO:0001583	missense	0			AK097438	CCDS2005.1	2q11.2	2008-02-05			ENSG00000163060	ENSG00000163060			31012	protein-coding gene	gene with protein product							Standard	XM_005263876		Approved	MGC27019	uc002stw.1	Q8WW24	OTTHUMG00000130396	ENST00000295201.4:c.1271G>A	2.37:g.95542477G>A	ENSP00000295201:p.Arg424His			Missense_Mutation	SNP	pfam_Tektin,prints_Tektin	p.R424H	ENST00000295201.4	37	c.1271	CCDS2005.1	2	.	.	.	.	.	.	.	.	.	.	.	12.57	1.976656	0.34848	0.0	1.16E-4	ENSG00000163060	ENST00000295201	T	0.02682	4.2	2.43	0.339	0.15979	.	0.261531	0.37623	N	0.002019	T	0.02047	0.0064	N	0.25890	0.77	0.48040	D	0.99957	B	0.27932	0.194	B	0.28916	0.096	T	0.57608	-0.7782	10	0.18710	T	0.47	-7.0137	6.5837	0.22609	0.2695:0.0:0.7305:0.0	.	424	Q8WW24	TEKT4_HUMAN	H	424	ENSP00000295201:R424H	ENSP00000295201:R424H	R	+	2	0	TEKT4	94906204	0.052000	0.20516	0.739000	0.30968	0.764000	0.43329	1.754000	0.38369	-0.309000	0.08779	0.281000	0.19383	CGC	TEKT4	-	pfam_Tektin	ENSG00000163060		0.592	TEKT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEKT4	HGNC	protein_coding	OTTHUMT00000252777.1	-	0.00	216	0	G	NM_144705		95542477	+1	tier1	-	no_errors	ENST00000295201	ensembl	human	known	74_37	missense	22.12	81	23	SNP	0.698	A
TENM4	26011	genome.wustl.edu	37	11	78383352	78383352	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr11:78383352G>T	ENST00000278550.7	-	31	5981	c.5519C>A	c.(5518-5520)tCt>tAt	p.S1840Y		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	1840					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										AAAGTCCAGAGATAGGAGATT	0.512																																																	0													85.0	83.0	84.0					11																	78383352		1918	4137	6055	SO:0001583	missense	0			AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.5519C>A	11.37:g.78383352G>T	ENSP00000278550:p.Ser1840Tyr		A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.S1840Y	ENST00000278550.7	37	c.5519	CCDS44688.1	11	.	.	.	.	.	.	.	.	.	.	G	17.34	3.364656	0.61513	.	.	ENSG00000149256	ENST00000278550;ENST00000530738	D;T	0.91407	-2.84;0.6	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.95758	0.8620	M	0.82517	2.595	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	D	0.94955	0.8103	9	.	.	.	.	19.9142	0.97043	0.0:0.0:1.0:0.0	.	1840	Q6N022	TEN4_HUMAN	Y	1840;304	ENSP00000278550:S1840Y;ENSP00000431711:S304Y	.	S	-	2	0	ODZ4	78061000	1.000000	0.71417	0.188000	0.23233	0.061000	0.15899	9.657000	0.98554	2.941000	0.99782	0.655000	0.94253	TCT	TENM4	-	NULL	ENSG00000149256		0.512	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM4	HGNC	protein_coding	OTTHUMT00000391406.2	-	0.00	84	0	G			78383352	-1	tier1	-	no_errors	ENST00000278550	ensembl	human	known	74_37	missense	5.71	65	4	SNP	0.999	T
TFEC	22797	genome.wustl.edu	37	7	115590971	115590971	+	Silent	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr7:115590971G>T	ENST00000265440.7	-	6	652	c.472C>A	c.(472-474)Cga>Aga	p.R158R	TFEC_ENST00000484212.1_Silent_p.R248R|TFEC_ENST00000320239.7_Silent_p.R129R|TFEC_ENST00000457268.1_Silent_p.R91R|TFEC_ENST00000393485.1_Silent_p.R129R	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	transcription factor EC	158	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cellular response to heat (GO:0034605)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			TCCTTGATTCGGTAATTAATA	0.299																																																	0													39.0	43.0	41.0					7																	115590971		2203	4297	6500	SO:0001819	synonymous_variant	0			D43945	CCDS5762.1, CCDS34738.1, CCDS59076.1	7q31.2	2013-05-21			ENSG00000105967	ENSG00000105967		"""Basic helix-loop-helix proteins"""	11754	protein-coding gene	gene with protein product		604732				9256061	Standard	NM_012252		Approved	TCFEC, TFECL, bHLHe34	uc003vhj.2	O14948	OTTHUMG00000023518	ENST00000265440.7:c.472C>A	7.37:g.115590971G>T			B2R8X5|Q5H9U8|Q709A4|Q8N6J9	Silent	SNP	pfam_bHLH_ZIP_TF_MiT/TFE,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.R158	ENST00000265440.7	37	c.472	CCDS5762.1	7																																																																																			TFEC	-	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	ENSG00000105967		0.299	TFEC-001	KNOWN	basic|CCDS	protein_coding	TFEC	HGNC	protein_coding	OTTHUMT00000059839.4		0.00	26	0	G	NM_012252		115590971	-1			no_errors	ENST00000265440	ensembl	human	known	74_37	silent	5.00	76	4	SNP	1.000	T
TGIF2LX	90316	genome.wustl.edu	37	X	89177777	89177777	+	Silent	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chrX:89177777G>T	ENST00000561129.2	+	1	823	c.693G>T	c.(691-693)ctG>ctT	p.L231L	TGIF2LX_ENST00000283891.5_Silent_p.L231L			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	231					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						CTGCCGAGCTGGAGCTAGAGA	0.498																																																	0													41.0	44.0	43.0					X																	89177777		2195	4276	6471	SO:0001819	synonymous_variant	0			AF497480	CCDS14459.1	Xq21.31	2014-05-14	2007-02-07		ENSG00000153779	ENSG00000153779		"""Homeoboxes / TALE class"""	18570	protein-coding gene	gene with protein product		300411	"""TGFB-induced factor 2-like, X-linked"""				Standard	NM_138960		Approved		uc004efe.3	Q8IUE1	OTTHUMG00000021954	ENST00000561129.2:c.693G>T	X.37:g.89177777G>T			Q5JRM9|Q8TD48	Silent	SNP	pfam_Homeobox_dom,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.L231	ENST00000561129.2	37	c.693	CCDS14459.1	X																																																																																			TGIF2LX	-	NULL	ENSG00000153779		0.498	TGIF2LX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TGIF2LX	HGNC	protein_coding	OTTHUMT00000417911.2	-	0.00	51	0	G	NM_138960		89177777	+1	tier1	-	no_errors	ENST00000283891	ensembl	human	known	74_37	silent	10.00	36	4	SNP	0.304	T
TLK2	11011	genome.wustl.edu	37	17	60637455	60637455	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr17:60637455G>T	ENST00000326270.9	+	10	1067	c.799G>T	c.(799-801)Gtg>Ttg	p.V267L	TLK2_ENST00000346027.5_Missense_Mutation_p.V267L|TLK2_ENST00000542523.1_Missense_Mutation_p.V235L|TLK2_ENST00000582809.1_Missense_Mutation_p.V118L|TLK2_ENST00000343388.7_Missense_Mutation_p.V235L	NM_001284333.1	NP_001271262.1	Q86UE8	TLK2_HUMAN	tousled-like kinase 2	267					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|intracellular signal transduction (GO:0035556)|negative regulation of autophagy (GO:0010507)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	intermediate filament (GO:0005882)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						AAATAGATGTGTGACAATGAG	0.358																																																	0													71.0	72.0	71.0					17																	60637455		2203	4300	6503	SO:0001583	missense	0			AB004884	CCDS11633.1, CCDS45753.1, CCDS62283.1	17q23	2008-07-18							11842	protein-coding gene	gene with protein product		608439				9427565, 10523312	Standard	NM_006852		Approved	PKU-ALPHA, MGC44450	uc002izz.4	Q86UE8		ENST00000326270.9:c.799G>T	17.37:g.60637455G>T	ENSP00000316512:p.Val267Leu		D3DU07|Q9UKI7|Q9Y4F7	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.V267L	ENST00000326270.9	37	c.799		17	.	.	.	.	.	.	.	.	.	.	G	15.75	2.926129	0.52759	.	.	ENSG00000146872	ENST00000346027;ENST00000343388;ENST00000326270;ENST00000542523	T;T;T;T	0.64618	-0.09;-0.11;-0.08;-0.11	4.53	4.53	0.55603	.	0.000000	0.85682	D	0.000000	T	0.44540	0.1298	N	0.12887	0.27	0.80722	D	1	B;B;B;B	0.32731	0.382;0.001;0.001;0.007	B;B;B;B	0.31614	0.133;0.006;0.006;0.002	T	0.41840	-0.9486	10	0.27785	T	0.31	.	16.8221	0.85835	0.0:0.0:1.0:0.0	.	267;235;267;267	Q86UE8;Q86UE8-3;Q86UE8-2;D3DU05	TLK2_HUMAN;.;.;.	L	267;235;267;235	ENSP00000275780:V267L;ENSP00000340800:V235L;ENSP00000316512:V267L;ENSP00000442311:V235L	ENSP00000316512:V267L	V	+	1	0	TLK2	57991187	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.606000	0.82863	2.516000	0.84829	0.655000	0.94253	GTG	TLK2	-	NULL	ENSG00000146872		0.358	TLK2-004	KNOWN	basic	protein_coding	TLK2	HGNC	protein_coding	OTTHUMT00000445140.1	-	0.00	41	0	G	NM_006852		60637455	+1	tier1	-	no_errors	ENST00000326270	ensembl	human	known	74_37	missense	5.00	76	4	SNP	1.000	T
TMBIM4	51643	genome.wustl.edu	37	12	66531936	66531937	+	Frame_Shift_Ins	INS	-	-	A	rs199863727	byFrequency	TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr12:66531936_66531937insA	ENST00000358230.3	-	7	640_641	c.520_521insT	c.(520-522)tatfs	p.Y174fs	TMBIM4_ENST00000398033.4_Frame_Shift_Ins_p.I159fs|TMBIM4_ENST00000539652.1_Intron|TMBIM4_ENST00000286424.7_Frame_Shift_Ins_p.Y221fs|TMBIM4_ENST00000542724.1_Frame_Shift_Ins_p.Y143fs|TMBIM4_ENST00000556010.1_Intron|TMBIM4_ENST00000544599.1_5'UTR	NM_016056.2	NP_057140.2	Q9HC24	LFG4_HUMAN	transmembrane BAX inhibitor motif containing 4	174					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|regulation of calcium-mediated signaling (GO:0050848)	Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|ovary(1)|prostate(2)	9				GBM - Glioblastoma multiforme(28;0.0745)		TATCTCACTATAAAAAAAAAAC	0.351																																																	0																																										SO:0001589	frameshift_variant	0			AF113127	CCDS41805.1, CCDS61187.1, CCDS73493.1	12q14.3	2014-05-09			ENSG00000155957	ENSG00000155957			24257	protein-coding gene	gene with protein product						11042152, 10810093	Standard	NM_001282609		Approved	CGI-119, S1R, ZPRO, LFG4, GAAP	uc001stc.3	Q9HC24	OTTHUMG00000168973	ENST00000358230.3:c.521dupT	12.37:g.66531946_66531946dupA	ENSP00000350965:p.Tyr174fs		Q542Z6|Q9UHY5|Q9Y3C2	Frame_Shift_Ins	INS	pfam_Bax_inhibitor_1-related	p.Y174fs	ENST00000358230.3	37	c.521_520	CCDS41805.1	12																																																																																			TMBIM4	-	pfam_Bax_inhibitor_1-related	ENSG00000155957		0.351	TMBIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMBIM4	HGNC	protein_coding	OTTHUMT00000401832.2		0.00	25	0	-	NM_016056		66531937	-1	tier1		no_errors	ENST00000358230	ensembl	human	known	74_37	frame_shift_ins	16.67	35	7	INS	0.856:0.028	A
TMEM168	64418	genome.wustl.edu	37	7	112424213	112424213	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr7:112424213G>T	ENST00000312814.6	-	2	1228	c.668C>A	c.(667-669)cCg>cAg	p.P223Q	TMEM168_ENST00000454074.1_Missense_Mutation_p.P223Q	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	223						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						AAAAGCAATCGGATTTTTGGG	0.318																																																	0													57.0	63.0	61.0					7																	112424213		2203	4299	6502	SO:0001583	missense	0				CCDS5757.1	7q31.32	2006-08-08			ENSG00000146802	ENSG00000146802			25826	protein-coding gene	gene with protein product						12477932	Standard	XM_005250527		Approved	DKFZp564C012,FLJ13576	uc003vgn.3	Q9H0V1	OTTHUMG00000155188	ENST00000312814.6:c.668C>A	7.37:g.112424213G>T	ENSP00000323068:p.Pro223Gln		A4D0T9|B4DDS0|Q8NEK4|Q9H8J2	Missense_Mutation	SNP	superfamily_ConA-like_lec_gl_sf	p.P223Q	ENST00000312814.6	37	c.668	CCDS5757.1	7	.	.	.	.	.	.	.	.	.	.	G	21.0	4.088287	0.76756	.	.	ENSG00000146802	ENST00000312814;ENST00000454074	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.79233	0.4411	L	0.61218	1.895	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78851	-0.2041	9	0.87932	D	0	-17.347	20.6397	0.99537	0.0:0.0:1.0:0.0	.	223	Q9H0V1	TM168_HUMAN	Q	223	.	ENSP00000323068:P223Q	P	-	2	0	TMEM168	112211449	1.000000	0.71417	0.996000	0.52242	0.982000	0.71751	7.903000	0.87398	2.880000	0.98712	0.650000	0.86243	CCG	TMEM168	-	NULL	ENSG00000146802		0.318	TMEM168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM168	HGNC	protein_coding	OTTHUMT00000338696.4		0.00	21	0	G	NM_022484		112424213	-1			no_errors	ENST00000312814	ensembl	human	known	74_37	missense	10.00	36	4	SNP	1.000	T
TMEM249	340393	genome.wustl.edu	37	8	145578386	145578386	+	Silent	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr8:145578386G>T	ENST00000398633.3	-	1	188	c.42C>A	c.(40-42)atC>atA	p.I14I	TMEM249_ENST00000531225.1_3'UTR|FBXL6_ENST00000526524.1_5'Flank	NM_001252402.1	NP_001239331.1	Q2WGJ8	TM249_HUMAN	transmembrane protein 249	14						integral component of membrane (GO:0016021)											AGCGCCAGCCGATGGAGGTCG	0.667																																																	0																																										SO:0001819	synonymous_variant	0				CCDS59117.1	8q24.3	2012-07-02			ENSG00000214597	ENSG00000261587			44155	protein-coding gene	gene with protein product							Standard	NM_001252402		Approved	C8orfK29	uc011llb.2	Q2WGJ8	OTTHUMG00000165167	ENST00000398633.3:c.42C>A	8.37:g.145578386G>T				Silent	SNP	NULL	p.I14	ENST00000398633.3	37	c.42	CCDS59117.1	8																																																																																			TMEM249	-	NULL	ENSG00000214597		0.667	TMEM249-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM249	HGNC	protein_coding	OTTHUMT00000382802.1	-	0.00	69	0	G	NM_001252402		145578386	-1	tier1	-	no_errors	ENST00000398633	ensembl	human	known	74_37	silent	5.71	66	4	SNP	0.000	T
TMEM5	10329	genome.wustl.edu	37	12	64196047	64196047	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr12:64196047G>T	ENST00000261234.6	+	4	763	c.605G>T	c.(604-606)gGa>gTa	p.G202V	TMEM5_ENST00000537373.1_5'UTR	NM_014254.1	NP_055069.1	Q9Y2B1	TMEM5_HUMAN	transmembrane protein 5	202						integral component of plasma membrane (GO:0005887)				breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1)	15		Myeloproliferative disorder(1001;0.0255)	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)		GTTTTGCTCGGAAATGAACAT	0.378																																																	0													80.0	78.0	78.0					12																	64196047		2203	4300	6503	SO:0001583	missense	0			AB015633	CCDS8966.1, CCDS61179.1	12q14.1	2013-05-07			ENSG00000118600	ENSG00000118600			13530	protein-coding gene	gene with protein product		605862				10072769, 23217329	Standard	NM_014254		Approved	HP10481	uc001srq.2	Q9Y2B1	OTTHUMG00000168730	ENST00000261234.6:c.605G>T	12.37:g.64196047G>T	ENSP00000261234:p.Gly202Val		A8K017|Q6PKD6	Missense_Mutation	SNP	pfam_Exostosin	p.G202V	ENST00000261234.6	37	c.605	CCDS8966.1	12	.	.	.	.	.	.	.	.	.	.	G	18.72	3.684889	0.68157	.	.	ENSG00000118600	ENST00000261234	T	0.30981	1.51	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.59810	0.2221	M	0.81341	2.54	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.62086	-0.6928	9	.	.	.	-29.9635	19.0229	0.92922	0.0:0.0:1.0:0.0	.	202	Q9Y2B1	TMEM5_HUMAN	V	202	ENSP00000261234:G202V	.	G	+	2	0	TMEM5	62482314	1.000000	0.71417	1.000000	0.80357	0.481000	0.33189	9.215000	0.95146	2.656000	0.90262	0.591000	0.81541	GGA	TMEM5	-	NULL	ENSG00000118600		0.378	TMEM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM5	HGNC	protein_coding	OTTHUMT00000400821.1		0.00	24	0	G	NM_014254		64196047	+1			no_errors	ENST00000261234	ensembl	human	known	74_37	missense	5.88	64	4	SNP	1.000	T
TP53	7157	genome.wustl.edu	37	17	7578263	7578263	+	Nonsense_Mutation	SNP	G	G	A	rs397516435		TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr17:7578263G>A	ENST00000269305.4	-	6	775	c.586C>T	c.(586-588)Cga>Tga	p.R196*	TP53_ENST00000359597.4_Nonsense_Mutation_p.R196*|TP53_ENST00000574684.1_Intron|TP53_ENST00000420246.2_Nonsense_Mutation_p.R196*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R196*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R196*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R196*	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	196	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|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 transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R196*(167)|p.R64*(14)|p.R103*(14)|p.0?(8)|p.R196fs*51(7)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196R(2)|p.I195fs*50(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I195fs*12(1)|p.P59_E66>Q(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CCTTCCACTCGGATAAGATGC	0.552		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	232	Substitution - Nonsense(195)|Deletion - Frameshift(11)|Whole gene deletion(8)|Deletion - In frame(5)|Complex - deletion inframe(5)|Unknown(5)|Substitution - coding silent(2)|Complex - frameshift(1)	large_intestine(54)|breast(29)|upper_aerodigestive_tract(22)|lung(22)|haematopoietic_and_lymphoid_tissue(17)|skin(17)|biliary_tract(11)|central_nervous_system(11)|oesophagus(11)|ovary(11)|stomach(8)|urinary_tract(7)|bone(4)|liver(3)|pancreas(3)|eye(1)|kidney(1)	GRCh37	CM941329	TP53	M							102.0	91.0	94.0					17																	7578263		2203	4300	6503	SO:0001587	stop_gained	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.586C>T	17.37:g.7578263G>A	ENSP00000269305:p.Arg196*		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R196*	ENST00000269305.4	37	c.586	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	14.02	2.409843	0.42715	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.41	4.44	0.53790	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.9531	12.3046	0.54895	0.0827:0.0:0.9173:0.0	.	.	.	.	X	196;196;196;196;196;196;185;103;64;103;64	.	ENSP00000269305:R196X	R	-	1	2	TP53	7518988	1.000000	0.71417	0.997000	0.53966	0.023000	0.10783	2.166000	0.42406	1.427000	0.47276	-0.140000	0.14226	CGA	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd	ENSG00000141510		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0.00	126	0	G	NM_000546		7578263	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	nonsense	70.00	15	35	SNP	1.000	A
TP63	8626	genome.wustl.edu	37	3	189586371	189586371	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr3:189586371G>T	ENST00000264731.3	+	8	1084	c.995G>T	c.(994-996)gGg>gTg	p.G332V	TP63_ENST00000449992.1_Missense_Mutation_p.G153V|TP63_ENST00000392463.2_Missense_Mutation_p.G238V|TP63_ENST00000440651.2_Missense_Mutation_p.G332V|TP63_ENST00000418709.2_Missense_Mutation_p.G332V|TP63_ENST00000392461.3_Missense_Mutation_p.G238V|TP63_ENST00000392460.3_Missense_Mutation_p.G332V|TP63_ENST00000354600.5_Missense_Mutation_p.G238V|TP63_ENST00000437221.1_Missense_Mutation_p.G238V|TP63_ENST00000320472.5_Missense_Mutation_p.G332V|TP63_ENST00000456148.1_Missense_Mutation_p.G238V|TP63_ENST00000382063.4_Missense_Mutation_p.G247V	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	332					apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		ATTCCTAGTGGGCAAGTCCTG	0.498										HNSCC(45;0.13)																																							0													51.0	51.0	51.0					3																	189586371		2203	4300	6503	SO:0001583	missense	0			AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"""tumor protein p73-like"", ""tumor protein p53-like"", ""tumor protein p53-competing protein"""	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.995G>T	3.37:g.189586371G>T	ENSP00000264731:p.Gly332Val		O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_DNA-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor	p.G332V	ENST00000264731.3	37	c.995	CCDS3293.1	3	.	.	.	.	.	.	.	.	.	.	G	24.5	4.543319	0.86022	.	.	ENSG00000073282	ENST00000264731;ENST00000418709;ENST00000320472;ENST00000392460;ENST00000440651;ENST00000382063;ENST00000354600;ENST00000437221;ENST00000392463;ENST00000392461;ENST00000449992;ENST00000456148	D;D;D;D;D;D;D;D;D;D;D;D	0.99957	-9.0;-9.0;-9.0;-9.0;-9.0;-9.0;-9.0;-9.0;-9.0;-9.0;-6.93;-9.0	5.83	5.83	0.93111	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99957	0.9982	M	0.89715	3.055	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;0.999;0.999;0.999;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D	0.85130	0.991;0.995;0.995;0.991;0.991;0.991;0.995;0.997;0.997;0.995	D	0.96083	0.9055	9	.	.	.	-10.0007	19.1141	0.93331	0.0:0.0:1.0:0.0	.	153;332;332;238;238;238;238;332;332;332	Q9H3D4-10;Q9H3D4-7;Q9H3D4-11;Q9H3D4-4;Q9H3D4-2;Q9H3D4-6;C9D7C9;Q9H3D4-3;Q9H3D4;Q9H3D4-5	.;.;.;.;.;.;.;.;P63_HUMAN;.	V	332;332;332;332;332;247;238;238;238;238;153;238	ENSP00000264731:G332V;ENSP00000407144:G332V;ENSP00000317510:G332V;ENSP00000376253:G332V;ENSP00000394337:G332V;ENSP00000371495:G247V;ENSP00000346614:G238V;ENSP00000392488:G238V;ENSP00000376256:G238V;ENSP00000376254:G238V;ENSP00000387839:G153V;ENSP00000389485:G238V	.	G	+	2	0	TP63	191069065	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.700000	0.98707	2.749000	0.94314	0.655000	0.94253	GGG	TP63	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd	ENSG00000073282		0.498	TP63-001	KNOWN	basic|CCDS	protein_coding	TP63	HGNC	protein_coding	OTTHUMT00000343865.1	-	0.00	79	0	G	NM_003722		189586371	+1	tier1	-	no_errors	ENST00000264731	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	T
TP63	8626	genome.wustl.edu	37	3	189587178	189587178	+	Nonsense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr3:189587178G>T	ENST00000264731.3	+	9	1284	c.1195G>T	c.(1195-1197)Gaa>Taa	p.E399*	TP63_ENST00000449992.1_Nonsense_Mutation_p.E220*|TP63_ENST00000392463.2_Nonsense_Mutation_p.E305*|TP63_ENST00000440651.2_Nonsense_Mutation_p.E395*|TP63_ENST00000418709.2_Nonsense_Mutation_p.E399*|TP63_ENST00000392461.3_Nonsense_Mutation_p.E305*|TP63_ENST00000392460.3_Nonsense_Mutation_p.E399*|TP63_ENST00000354600.5_Nonsense_Mutation_p.E305*|TP63_ENST00000437221.1_Nonsense_Mutation_p.E305*|TP63_ENST00000320472.5_Nonsense_Mutation_p.E399*|TP63_ENST00000456148.1_Nonsense_Mutation_p.E301*|TP63_ENST00000382063.4_Nonsense_Mutation_p.E314*	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	399	Oligomerization.				apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CCCAGATGATGAACTGTTATA	0.408										HNSCC(45;0.13)																																							0													157.0	132.0	140.0					3																	189587178		2203	4300	6503	SO:0001587	stop_gained	0			AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"""tumor protein p73-like"", ""tumor protein p53-like"", ""tumor protein p53-competing protein"""	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.1195G>T	3.37:g.189587178G>T	ENSP00000264731:p.Glu399*		O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Nonsense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_DNA-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor	p.E399*	ENST00000264731.3	37	c.1195	CCDS3293.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.829757	0.96996	.	.	ENSG00000073282	ENST00000264731;ENST00000418709;ENST00000320472;ENST00000392460;ENST00000440651;ENST00000382063;ENST00000354600;ENST00000437221;ENST00000392463;ENST00000392461;ENST00000449992;ENST00000456148	.	.	.	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-12.3003	17.3209	0.87235	0.0:0.0:1.0:0.0	.	.	.	.	X	399;399;399;399;395;314;305;305;305;305;220;301	.	.	E	+	1	0	TP63	191069872	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.864000	0.92294	2.766000	0.95052	0.655000	0.94253	GAA	TP63	-	pfam_p53_tetrameristn,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	ENSG00000073282		0.408	TP63-001	KNOWN	basic|CCDS	protein_coding	TP63	HGNC	protein_coding	OTTHUMT00000343865.1		0.00	20	0	G	NM_003722		189587178	+1			no_errors	ENST00000264731	ensembl	human	known	74_37	nonsense	7.14	52	4	SNP	1.000	T
TPD52L2	7165	genome.wustl.edu	37	20	62518951	62518951	+	Intron	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr20:62518951G>T	ENST00000346249.4	+	6	552				TPD52L2_ENST00000352482.4_Missense_Mutation_p.A171S|TPD52L2_ENST00000369927.4_Intron|TPD52L2_ENST00000217121.5_Missense_Mutation_p.A180S|TPD52L2_ENST00000351424.4_Missense_Mutation_p.A160S|TPD52L2_ENST00000348257.5_Intron|TPD52L2_ENST00000358548.4_Missense_Mutation_p.A151S	NM_001243891.1|NM_003288.3	NP_001230820.1|NP_003279.2	O43399	TPD54_HUMAN	tumor protein D52-like 2						regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.A180T(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(38;1.3e-12)|all_epithelial(29;2.23e-14)|Lung NSC(23;5.92e-10)|all_lung(23;2.08e-09)					AAGTATGCCAGCCATGAGGTA	0.567																																																	1	Substitution - Missense(1)	endometrium(1)											179.0	171.0	174.0					20																	62518951		2203	4300	6503	SO:0001627	intron_variant	0			AF004430	CCDS13540.1, CCDS13541.1, CCDS13542.1, CCDS13543.1, CCDS13544.1, CCDS13545.1, CCDS58785.1, CCDS74752.1, CCDS74753.1	20q13.2-q13.3	2007-12-19			ENSG00000101150	ENSG00000101150			12007	protein-coding gene	gene with protein product		603747				9484778	Standard	NM_199360		Approved	D54, hD54	uc002ygy.3	O43399	OTTHUMG00000033009	ENST00000346249.4:c.477-1592G>T	20.37:g.62518951G>T			B4DPJ6|E1P5G7|O43398|Q5JWU5|Q5JWU6|Q5JWU8|Q5U0E0|Q9H3Z6	Missense_Mutation	SNP	pfam_TPD52	p.A180S	ENST00000346249.4	37	c.538	CCDS13540.1	20	.	.	.	.	.	.	.	.	.	.	G	20.2	3.949218	0.73787	.	.	ENSG00000101150	ENST00000352482;ENST00000351424;ENST00000217121;ENST00000358548	T;T;T;T	0.33216	1.42;1.47;1.43;1.47	5.25	4.3	0.51218	.	0.205916	0.39475	N	0.001353	T	0.41119	0.1145	M	0.72118	2.19	0.80722	D	1	B;P;P;P	0.44429	0.449;0.592;0.698;0.835	B;B;P;P	0.48901	0.306;0.397;0.486;0.594	T	0.27571	-1.0070	10	0.41790	T	0.15	-6.5198	11.0532	0.47903	0.0872:0.0:0.9128:0.0	.	151;160;171;180	O43399-4;O43399-3;Q5U0E0;Q5JWU6	.;.;.;.	S	171;160;180;151	ENSP00000344647:A171S;ENSP00000340006:A160S;ENSP00000217121:A180S;ENSP00000351350:A151S	ENSP00000217121:A180S	A	+	1	0	TPD52L2	61989395	1.000000	0.71417	0.797000	0.32132	0.891000	0.51852	5.509000	0.67012	1.353000	0.45828	0.655000	0.94253	GCC	TPD52L2	-	pfam_TPD52	ENSG00000101150		0.567	TPD52L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPD52L2	HGNC	protein_coding	OTTHUMT00000080248.1		0.00	32	0	G			62518951	+1			no_errors	ENST00000217121	ensembl	human	known	74_37	missense	5.71	33	2	SNP	0.973	T
TPTE2	93492	genome.wustl.edu	37	13	20025336	20025336	+	Silent	SNP	A	A	G	rs545861513	byFrequency	TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr13:20025336A>G	ENST00000400230.2	-	11	815	c.771T>C	c.(769-771)caT>caC	p.H257H	TPTE2_ENST00000382978.1_Silent_p.H217H|TPTE2_ENST00000382977.4_Silent_p.H257H|TPTE2_ENST00000400103.2_Silent_p.H146H|TPTE2_ENST00000457266.2_Silent_p.H146H|TPTE2_ENST00000382975.4_Silent_p.H217H|TPTE2_ENST00000255310.6_Silent_p.H180H|TPTE2_ENST00000390680.2_Silent_p.H180H			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	257	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		AGTGGTTTCGATGTTTCTTAT	0.358													a|||	6	0.00119808	0.003	0.0014	5008	,	,		20859	0.0		0.001	False		,,,				2504	0.0																0													132.0	116.0	122.0					13																	20025336		2203	4299	6502	SO:0001819	synonymous_variant	0			AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.771T>C	13.37:g.20025336A>G			A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Silent	SNP	pfam_Tensin_phosphatase_C2-dom,pfam_Ion_trans_dom,pfam_Dual-sp_phosphatase_cat-dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.H257	ENST00000400230.2	37	c.771	CCDS45014.1	13																																																																																			TPTE2	-	pfscan_Phosphatase_tensin-typ	ENSG00000132958		0.358	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	TPTE2	HGNC	protein_coding			0.00	42	0	A	NM_199254		20025336	-1			no_errors	ENST00000382977	ensembl	human	known	74_37	silent	5.00	57	3	SNP	0.040	G
TRIM36	55521	genome.wustl.edu	37	5	114473234	114473234	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr5:114473234G>T	ENST00000282369.3	-	6	1068	c.947C>A	c.(946-948)tCt>tAt	p.S316Y	TRIM36_ENST00000514154.1_Missense_Mutation_p.S161Y|TRIM36_ENST00000513154.1_Missense_Mutation_p.S304Y	NM_018700.3	NP_061170.2	Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	316					acrosome reaction (GO:0007340)|regulation of cell cycle (GO:0051726)	acrosomal vesicle (GO:0001669)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S316C(1)		breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		TTTCAAAACAGATGATTTCCT	0.368																																																	1	Substitution - Missense(1)	breast(1)											130.0	138.0	135.0					5																	114473234		2202	4299	6501	SO:0001583	missense	0			AJ272269	CCDS4115.1, CCDS34211.1, CCDS34212.1, CCDS75287.1	5q22	2013-02-11	2011-01-25		ENSG00000152503	ENSG00000152503		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	16280	protein-coding gene	gene with protein product	"""zinc-binding protein Rbcc728"", ""tripartite motif protein 36"", ""RING finger protein 98"""	609317	"""tripartite motif-containing 36"""			11331580	Standard	XM_005272031		Approved	RBCC728, RNF98, HAPRIN	uc003kqs.3	Q9NQ86	OTTHUMG00000128892	ENST00000282369.3:c.947C>A	5.37:g.114473234G>T	ENSP00000282369:p.Ser316Tyr		A1L3Z1|A6NDD0|B7Z3V4|B7ZAV7|E9PFI8|Q0P5Z9	Missense_Mutation	SNP	pfam_Znf_B-box,pfam_Fibronectin_type3,pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.S316Y	ENST00000282369.3	37	c.947	CCDS4115.1	5	.	.	.	.	.	.	.	.	.	.	G	15.77	2.930450	0.52866	.	.	ENSG00000152503	ENST00000282369;ENST00000513154;ENST00000514154	T;T;T	0.65732	0.52;0.63;-0.17	5.53	4.66	0.58398	.	0.477328	0.25581	N	0.029697	T	0.54224	0.1845	L	0.40543	1.245	0.80722	D	1	B;P	0.44659	0.346;0.84	B;P	0.45232	0.068;0.474	T	0.48514	-0.9029	10	0.23302	T	0.38	.	9.8361	0.40971	0.0728:0.1409:0.7863:0.0	.	304;316	E9PFI8;Q9NQ86	.;TRI36_HUMAN	Y	316;304;161	ENSP00000282369:S316Y;ENSP00000423934:S304Y;ENSP00000424259:S161Y	ENSP00000282369:S316Y	S	-	2	0	TRIM36	114501133	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	3.017000	0.49615	1.307000	0.44944	0.579000	0.79373	TCT	TRIM36	-	NULL	ENSG00000152503		0.368	TRIM36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM36	HGNC	protein_coding	OTTHUMT00000250854.2		0.00	11	0	G	NM_018700		114473234	-1			no_errors	ENST00000282369	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	T
TRIP10	9322	genome.wustl.edu	37	19	6751165	6751165	+	Silent	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr19:6751165G>T	ENST00000313244.9	+	15	1784	c.1749G>T	c.(1747-1749)cgG>cgT	p.R583R	TRIP10_ENST00000600428.1_Silent_p.R419R|TRIP10_ENST00000596758.1_Missense_Mutation_p.G537V|TRIP10_ENST00000313285.8_Silent_p.R527R|CTD-3128G10.6_ENST00000594056.1_RNA			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	583	Interaction with ARHGAP17, DAAM1, DIAPH1 and DIAPH2.|Interaction with DNM1 and WASL.|Interaction with PDE6G. {ECO:0000250}.|Interaction with WAS.|Required for interaction with FASLG and localization to lysosomes.|Required for podosome formation.|SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin cytoskeleton organization (GO:0030036)|cell communication (GO:0007154)|endocytosis (GO:0006897)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						GGGTCAGGCGGAAAGAGGGAG	0.617																																																	0													69.0	78.0	75.0					19																	6751165		2203	4300	6503	SO:0001819	synonymous_variant	0			AB072596	CCDS12172.1, CCDS74271.1, CCDS74272.1	19p13.3	2008-02-05			ENSG00000125733	ENSG00000125733			12304	protein-coding gene	gene with protein product	"""Cdc42-interacting protein"""	604504	"""salt tolerator"""	STOT		7776974, 9210375, 11294612	Standard	XM_005259683		Approved	STP, HSTP, CIP4	uc002mfr.3	Q15642	OTTHUMG00000150255	ENST00000313244.9:c.1749G>T	19.37:g.6751165G>T			B2R8A6|B7WP22|D6W645|O15184|Q53G22|Q5TZN1|Q6FI24|Q8NFL1|Q8TCY1|Q8TDX3|Q96RJ1	Missense_Mutation	SNP	pfam_FCH_dom,smart_FCH_dom,pfscan_FCH_dom	p.G537V	ENST00000313244.9	37	c.1610		19	.	.	.	.	.	.	.	.	.	.	G	10.31	1.314709	0.23908	.	.	ENSG00000125733	ENST00000420690	.	.	.	4.84	2.61	0.31194	.	.	.	.	.	T	0.56396	0.1982	.	.	.	0.80722	D	1	B	0.22414	0.069	B	0.26969	0.075	T	0.58137	-0.7689	7	0.87932	D	0	-23.2364	13.1132	0.59285	0.0:0.2959:0.7041:0.0	.	537	G5E9U1	.	V	537	.	ENSP00000415493:G537V	G	+	2	0	TRIP10	6702165	1.000000	0.71417	0.958000	0.39756	0.921000	0.55340	2.572000	0.45999	0.706000	0.31912	0.305000	0.20034	GGA	TRIP10	-	NULL	ENSG00000125733		0.617	TRIP10-003	KNOWN	basic	protein_coding	TRIP10	HGNC	protein_coding	OTTHUMT00000317129.2		0.00	120	0	G			6751165	+1			no_errors	ENST00000596758	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	T
TRPC1	7220	genome.wustl.edu	37	3	142511681	142511681	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr3:142511681G>T	ENST00000476941.1	+	9	1939	c.1453G>T	c.(1453-1455)Gat>Tat	p.D485Y	TRPC1_ENST00000273482.6_Missense_Mutation_p.D451Y	NM_001251845.1	NP_001238774.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	485					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to calcium ion (GO:0051592)|saliva secretion (GO:0046541)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|sarcomere (GO:0030017)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|inositol 1,4,5 trisphosphate binding (GO:0070679)|ion channel binding (GO:0044325)|store-operated calcium channel activity (GO:0015279)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						TGATTTTGCTGATCGGAAGGA	0.353																																																	0													151.0	135.0	140.0					3																	142511681		2203	4300	6503	SO:0001583	missense	0			X89066	CCDS3126.1, CCDS58856.1	3q23	2011-12-14			ENSG00000144935	ENSG00000144935		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12333	protein-coding gene	gene with protein product		602343				7568191, 16382100	Standard	NM_001251845		Approved	HTRP-1	uc003evc.3	P48995	OTTHUMG00000159301	ENST00000476941.1:c.1453G>T	3.37:g.142511681G>T	ENSP00000419313:p.Asp485Tyr		Q14CE4	Missense_Mutation	SNP	pfam_TRP_dom,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC1_channel,prints_TRPC_channel,tigrfam_TRP_channel	p.D485Y	ENST00000476941.1	37	c.1453	CCDS58856.1	3	.	.	.	.	.	.	.	.	.	.	G	18.45	3.626170	0.66901	.	.	ENSG00000144935	ENST00000476941;ENST00000273482	T;T	0.79749	-0.99;-1.3	5.21	5.21	0.72293	Ion transport (1);	0.139552	0.64402	D	0.000007	T	0.75243	0.3823	L	0.38838	1.175	0.58432	D	0.999994	P;P	0.42296	0.642;0.775	B;B	0.38264	0.183;0.269	T	0.79683	-0.1701	10	0.87932	D	0	-19.7456	19.1221	0.93367	0.0:0.0:1.0:0.0	.	485;451	P48995;P48995-2	TRPC1_HUMAN;.	Y	485;451	ENSP00000419313:D485Y;ENSP00000273482:D451Y	ENSP00000273482:D451Y	D	+	1	0	TRPC1	143994371	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.604000	0.82830	2.585000	0.87301	0.650000	0.86243	GAT	TRPC1	-	pfam_Ion_trans_dom,tigrfam_TRP_channel	ENSG00000144935		0.353	TRPC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRPC1	HGNC	protein_coding	OTTHUMT00000354520.1		0.00	15	0	G	NM_003304		142511681	+1			no_errors	ENST00000476941	ensembl	human	known	74_37	missense	6.67	42	3	SNP	1.000	T
TTC23L	153657	genome.wustl.edu	37	5	34867123	34867123	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr5:34867123G>T	ENST00000505624.1	+	7	892	c.789G>T	c.(787-789)caG>caT	p.Q263H	TTC23L_ENST00000514080.1_3'UTR	NM_144725.3	NP_653326.3	Q6PF05	TT23L_HUMAN	tetratricopeptide repeat domain 23-like	263								p.Q263Q(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(9)|prostate(2)|stomach(1)|urinary_tract(1)	22						AAGCTGCTCAGATAGAGCAGC	0.547																																																	1	Substitution - coding silent(1)	urinary_tract(1)											43.0	46.0	45.0					5																	34867123		1980	4159	6139	SO:0001583	missense	0				CCDS54840.1	5p13.2	2008-07-14			ENSG00000205838	ENSG00000205838			26355	protein-coding gene	gene with protein product						12477932	Standard	NM_144725		Approved	FLJ25439	uc003jiu.3	Q6PF05	OTTHUMG00000162020	ENST00000505624.1:c.789G>T	5.37:g.34867123G>T	ENSP00000422188:p.Gln263His		Q6RGS4|Q8N7R3|Q96LJ2	Missense_Mutation	SNP	NULL	p.Q263H	ENST00000505624.1	37	c.789	CCDS54840.1	5	.	.	.	.	.	.	.	.	.	.	G	11.49	1.654517	0.29425	.	.	ENSG00000205838	ENST00000505624;ENST00000535797	T	0.74421	-0.84	5.28	3.5	0.40072	Tetratricopeptide-like helical (1);	0.305409	0.33309	N	0.005048	T	0.81083	0.4749	M	0.67953	2.075	0.28529	N	0.912694	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.73380	0.952;0.98;0.971	T	0.72510	-0.4271	10	0.44086	T	0.13	-21.9636	6.9477	0.24528	0.1584:0.1469:0.6946:0.0	.	263;194;263	Q6PF05-2;B4DEX1;Q6PF05	.;.;TT23L_HUMAN	H	263	ENSP00000422188:Q263H	ENSP00000425242:Q263H	Q	+	3	2	TTC23L	34902880	0.996000	0.38824	0.996000	0.52242	0.112000	0.19704	1.038000	0.30254	0.788000	0.33755	-0.176000	0.13171	CAG	TTC23L	-	NULL	ENSG00000205838		0.547	TTC23L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC23L	HGNC	protein_coding	OTTHUMT00000366819.1		0.00	39	0	G	NM_144725		34867123	+1			no_errors	ENST00000505624	ensembl	human	known	74_37	missense	6.06	31	2	SNP	0.998	T
TTF2	8458	genome.wustl.edu	37	1	117634502	117634502	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr1:117634502G>T	ENST00000369466.4	+	17	2779	c.2735G>T	c.(2734-2736)aGc>aTc	p.S912I	MIR942_ENST00000401111.1_RNA	NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	912					ATP catabolic process (GO:0006200)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		CCGAGATCCAGCACCGTCCAC	0.537																																																	0													103.0	95.0	97.0					1																	117634502		2203	4300	6503	SO:0001583	missense	0			AF073771	CCDS892.1	1p13.1	2014-02-18			ENSG00000116830	ENSG00000116830			12398	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 6"""	604718				9748214	Standard	NM_003594		Approved	HuF2, ZGRF6	uc001egy.3	Q9UNY4	OTTHUMG00000012030	ENST00000369466.4:c.2735G>T	1.37:g.117634502G>T	ENSP00000358478:p.Ser912Ile		A8K4Q2|O75921|Q5T2K7|Q5VVU8|Q8N6I8	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_Znf_GRF,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.S912I	ENST00000369466.4	37	c.2735	CCDS892.1	1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.764361	0.89932	.	.	ENSG00000116830	ENST00000369466	T	0.75589	-0.95	5.66	5.66	0.87406	SNF2-related (1);	0.145675	0.32444	N	0.006095	D	0.88366	0.6417	H	0.95224	3.64	0.58432	D	0.999998	D	0.76494	0.999	D	0.72982	0.979	D	0.88294	0.2945	10	0.31617	T	0.26	-10.5287	17.2476	0.87032	0.0:0.0:1.0:0.0	.	912	Q9UNY4	TTF2_HUMAN	I	912	ENSP00000358478:S912I	ENSP00000358478:S912I	S	+	2	0	TTF2	117436025	1.000000	0.71417	0.998000	0.56505	0.896000	0.52359	6.679000	0.74513	2.690000	0.91761	0.655000	0.94253	AGC	TTF2	-	pfam_SNF2_N,superfamily_P-loop_NTPase	ENSG00000116830		0.537	TTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTF2	HGNC	protein_coding	OTTHUMT00000033277.3		0.00	34	0	G			117634502	+1			no_errors	ENST00000369466	ensembl	human	known	74_37	missense	8.16	45	4	SNP	1.000	T
TTLL5	23093	genome.wustl.edu	37	14	76420882	76420882	+	3'UTR	DEL	T	T	-			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr14:76420882delT	ENST00000298832.9	+	0	4144					NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5						fertilization (GO:0009566)|protein polyglutamylation (GO:0018095)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		GTCCATAGTATTTTTTTTTTT	0.463																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF107885	CCDS32124.1	14q24.3	2014-09-09	2005-07-29	2005-07-29	ENSG00000119685	ENSG00000119685		"""Tubulin tyrosine ligase-like family"""	19963	protein-coding gene	gene with protein product		612268	"""KIAA0998"""	KIAA0998		15890843	Standard	NM_015072		Approved		uc001xrx.3	Q6EMB2	OTTHUMG00000171611	ENST00000298832.9:c.*93T>-	14.37:g.76420882delT			B9EGH8|B9EGH9|Q9BUB0|Q9H0G4|Q9H7W2|Q9P1V5|Q9UPZ4	RNA	DEL	-	NULL	ENST00000298832.9	37	NULL	CCDS32124.1	14																																																																																			TTLL5	-	-	ENSG00000119685		0.463	TTLL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL5	HGNC	protein_coding	OTTHUMT00000414453.1		0.00	13	0	T	NM_015072		76420882	+1	tier1		no_errors	ENST00000554972	ensembl	human	known	74_37	rna	11.43	31	4	DEL	0.005	-
TTN	7273	genome.wustl.edu	37	2	179439032	179439032	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr2:179439032G>T	ENST00000591111.1	-	276	67128	c.66904C>A	c.(66904-66906)Ctt>Att	p.L22302I	TTN_ENST00000589042.1_Missense_Mutation_p.L23943I|TTN_ENST00000342992.6_Missense_Mutation_p.L21375I|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L15070I|RP11-171I2.5_ENST00000604215.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L14878I|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L15003I|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA			Q8WZ42	TITIN_HUMAN	titin	22302	Fibronectin type-III 62. {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)			GCCCATTTAAGTGTTACTGTG	0.433																																																	0													75.0	75.0	75.0					2																	179439032		1846	4082	5928	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.66904C>A	2.37:g.179439032G>T	ENSP00000465570:p.Leu22302Ile		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.L21375I	ENST00000591111.1	37	c.64123		2	.	.	.	.	.	.	.	.	.	.	G	9.361	1.068044	0.20067	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56275	0.47;0.47;0.47;0.47	5.53	5.53	0.82687	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.65512	0.2698	L	0.51422	1.61	0.40097	D	0.976326	D;D;D;D	0.63046	0.984;0.984;0.984;0.992	P;P;P;P	0.58077	0.611;0.611;0.611;0.832	T	0.68557	-0.5377	9	0.87932	D	0	.	19.4565	0.94892	0.0:0.0:1.0:0.0	.	14878;15003;15070;22302	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	21375;14878;15070;15003;14876	ENSP00000343764:L21375I;ENSP00000434586:L14878I;ENSP00000340554:L15070I;ENSP00000352154:L15003I	ENSP00000340554:L15070I	L	-	1	0	TTN	179147278	1.000000	0.71417	0.990000	0.47175	0.792000	0.44763	2.865000	0.48412	2.613000	0.88420	0.455000	0.32223	CTT	TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.433	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1		0.00	17	0	G	NM_133378		179439032	-1			no_errors	ENST00000342992	ensembl	human	known	74_37	missense	9.76	37	4	SNP	1.000	T
TTN	7273	genome.wustl.edu	37	2	179465721	179465721	+	Missense_Mutation	SNP	C	C	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr2:179465721C>T	ENST00000591111.1	-	238	51211	c.50987G>A	c.(50986-50988)cGt>cAt	p.R16996H	TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R18637H|TTN_ENST00000342992.6_Missense_Mutation_p.R16069H|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R9764H|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R9572H|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R9697H|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	16996	Fibronectin type-III 23. {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)			TTCCACATCACGCTTATTGCA	0.488																																																	0													148.0	156.0	153.0					2																	179465721		2170	4281	6451	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.50987G>A	2.37:g.179465721C>T	ENSP00000465570:p.Arg16996His		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.R16069H	ENST00000591111.1	37	c.48206		2	.	.	.	.	.	.	.	.	.	.	C	16.30	3.084282	0.55861	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57273	0.41;0.41;0.41;0.41	5.65	5.65	0.86999	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.67552	0.2905	L	0.41356	1.27	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.68401	-0.5418	9	0.87932	D	0	.	20.0781	0.97751	0.0:1.0:0.0:0.0	.	9572;9697;9764;16996	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	16069;9572;9764;9697;9572	ENSP00000343764:R16069H;ENSP00000434586:R9572H;ENSP00000340554:R9764H;ENSP00000352154:R9697H	ENSP00000340554:R9764H	R	-	2	0	TTN	179173966	1.000000	0.71417	0.995000	0.50966	0.991000	0.79684	7.520000	0.81821	2.817000	0.96982	0.563000	0.77884	CGT	TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.488	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0.00	10	0	C	NM_133378		179465721	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	54.55	5	6	SNP	1.000	T
TTN	7273	genome.wustl.edu	37	2	179584290	179584290	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr2:179584290G>T	ENST00000591111.1	-	80	23202	c.22978C>A	c.(22978-22980)Cat>Aat	p.H7660N	TTN_ENST00000589042.1_Missense_Mutation_p.H7977N|TTN_ENST00000342992.6_Missense_Mutation_p.H6733N|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13207	Ig-like 58.				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)	p.H6733D(1)		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)			CCAGAAACATGGACGGATACA	0.398																																																	1	Substitution - Missense(1)	lung(1)											178.0	173.0	175.0					2																	179584290		1864	4092	5956	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.22978C>A	2.37:g.179584290G>T	ENSP00000465570:p.His7660Asn		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.H6733N	ENST00000591111.1	37	c.20197		2	.	.	.	.	.	.	.	.	.	.	G	9.333	1.061032	0.19987	.	.	ENSG00000155657	ENST00000342992	T	0.65916	-0.18	6.08	6.08	0.98989	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);	.	.	.	.	T	0.47488	0.1448	N	0.11724	0.165	0.80722	D	1	B	0.27416	0.178	B	0.28385	0.089	T	0.49542	-0.8929	9	0.87932	D	0	.	14.9536	0.71094	0.0:0.2486:0.7514:0.0	.	7660	Q8WZ42	TITIN_HUMAN	N	6733	ENSP00000343764:H6733N	ENSP00000343764:H6733N	H	-	1	0	TTN	179292535	0.973000	0.33851	1.000000	0.80357	0.960000	0.62799	2.237000	0.43061	2.894000	0.99253	0.655000	0.94253	CAT	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000155657		0.398	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1		0.00	16	0	G	NM_133378		179584290	-1			no_errors	ENST00000342992	ensembl	human	known	74_37	missense	5.26	36	2	SNP	0.973	T
TTN	7273	genome.wustl.edu	37	2	179611618	179611618	+	Intron	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr2:179611618G>T	ENST00000591111.1	-	46	10585				TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.P5170H|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin						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)			GGCTTCATTGGGTGTACCAAA	0.408																																																	0													114.0	111.0	112.0					2																	179611618		2203	4299	6502	SO:0001627	intron_variant	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.10361-4970C>A	2.37:g.179611618G>T			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_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.P5170H	ENST00000591111.1	37	c.15509		2	.	.	.	.	.	.	.	.	.	.	G	15.04	2.716494	0.48622	.	.	ENSG00000155657	ENST00000360870;ENST00000306136	T	0.62105	0.05	5.95	5.95	0.96441	.	.	.	.	.	T	0.69052	0.3068	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.60831	-0.7185	9	0.14656	T	0.56	.	18.5659	0.91116	0.0:0.0:1.0:0.0	.	5170	Q8WZ42-6	.	H	5170;451	ENSP00000354117:P5170H	ENSP00000304714:P451H	P	-	2	0	TTN	179319863	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	5.318000	0.65829	2.825000	0.97269	0.655000	0.94253	CCC	TTN	-	NULL	ENSG00000155657		0.408	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1		0.00	18	0	G	NM_133378		179611618	-1			no_errors	ENST00000360870	ensembl	human	known	74_37	missense	6.06	31	2	SNP	1.000	T
TUBA3C	7278	genome.wustl.edu	37	13	19748175	19748175	+	Missense_Mutation	SNP	T	T	G			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr13:19748175T>G	ENST00000400113.3	-	5	1285	c.1181A>C	c.(1180-1182)aAg>aCg	p.K394T		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	394					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		GAGATCGAACTTATGGTCCAG	0.642																																																	0													125.0	114.0	117.0					13																	19748175		2203	4300	6503	SO:0001583	missense	0			AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"""Tubulins"""	12408	protein-coding gene	gene with protein product		602528	"""tubulin, alpha 2"""	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.1181A>C	13.37:g.19748175T>G	ENSP00000382982:p.Lys394Thr		A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin	p.K394T	ENST00000400113.3	37	c.1181	CCDS9284.1	13	.	.	.	.	.	.	.	.	.	.	t	12.88	2.071228	0.36566	.	.	ENSG00000198033	ENST00000400113	D	0.85955	-2.05	1.22	1.22	0.21188	.	0.000000	0.49305	U	0.000150	D	0.85864	0.5796	.	.	.	0.42575	D	0.993195	.	.	.	.	.	.	D	0.84442	0.0583	7	0.87932	D	0	.	6.5693	0.22529	0.0:0.0:0.0:1.0	.	.	.	.	T	394	ENSP00000382982:K394T	ENSP00000382982:K394T	K	-	2	0	TUBA3C	18646175	1.000000	0.71417	0.978000	0.43139	0.932000	0.56968	4.841000	0.62824	0.813000	0.34350	0.163000	0.16589	AAG	TUBA3C	-	superfamily_Tub_FtsZ_C,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin	ENSG00000198033		0.642	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	TUBA3C	HGNC	protein_coding	OTTHUMT00000044007.2	-	0.00	187	0	T	NM_006001		19748175	-1	tier1	-	no_errors	ENST00000400113	ensembl	human	known	74_37	missense	50.59	42	43	SNP	1.000	G
TXLNA	200081	genome.wustl.edu	37	1	32660753	32660753	+	Missense_Mutation	SNP	C	C	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr1:32660753C>T	ENST00000373609.1	+	10	1879	c.1598C>T	c.(1597-1599)tCa>tTa	p.S533L	TXLNA_ENST00000373610.3_Missense_Mutation_p.S533L			P40222	TXLNA_HUMAN	taxilin alpha	533					B cell activation (GO:0042113)|cell proliferation (GO:0008283)|exocytosis (GO:0006887)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	cytokine activity (GO:0005125)|high molecular weight B cell growth factor receptor binding (GO:0030372)			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				ACAGAAGCATCAGGCCAGACT	0.687																																																	0													29.0	31.0	30.0					1																	32660753		2203	4300	6503	SO:0001583	missense	0			AF516206	CCDS353.1	1p35	2012-02-21			ENSG00000084652	ENSG00000084652			30685	protein-coding gene	gene with protein product		608676				15184072, 14623251	Standard	NM_175852		Approved	DKFZp451J0118	uc001bui.3	P40222	OTTHUMG00000004423	ENST00000373609.1:c.1598C>T	1.37:g.32660753C>T	ENSP00000362711:p.Ser533Leu		D3DPP6|Q5TFJ6|Q66K62|Q86T54|Q86T85|Q86T86|Q86Y86|Q86YW3|Q8N2Y3	Missense_Mutation	SNP	pfam_Taxilin_fam	p.S533L	ENST00000373609.1	37	c.1598	CCDS353.1	1	.	.	.	.	.	.	.	.	.	.	C	10.64	1.408145	0.25378	.	.	ENSG00000084652	ENST00000373610;ENST00000373609	T;T	0.30714	1.52;1.52	5.04	3.17	0.36434	.	1.084810	0.07189	N	0.855409	T	0.20251	0.0487	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27773	-1.0064	10	0.24483	T	0.36	2.3477	10.9245	0.47184	0.0:0.787:0.0:0.213	.	533	P40222	TXLNA_HUMAN	L	533	ENSP00000362712:S533L;ENSP00000362711:S533L	ENSP00000362711:S533L	S	+	2	0	TXLNA	32433340	0.000000	0.05858	0.221000	0.23827	0.459000	0.32528	0.197000	0.17197	0.658000	0.30925	0.655000	0.94253	TCA	TXLNA	-	NULL	ENSG00000084652		0.687	TXLNA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TXLNA	HGNC	protein_coding	OTTHUMT00000012844.1		0.00	77	0	C	NM_175852		32660753	+1			no_errors	ENST00000373609	ensembl	human	known	74_37	missense	5.71	33	2	SNP	0.287	T
UBAC2	337867	genome.wustl.edu	37	13	99853785	99853785	+	Intron	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr13:99853785G>T	ENST00000403766.3	+	1	166				UBAC2-AS1_ENST00000426037.2_lincRNA|UBAC2_ENST00000376440.2_Missense_Mutation_p.M40I	NM_001144072.1	NP_001137544.1	Q8NBM4	UBAC2_HUMAN	UBA domain containing 2						protein localization to endoplasmic reticulum (GO:0070972)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)	10	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GCTGCTGGATGTTGCTGTTTT	0.502											OREG0022482	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													138.0	116.0	123.0					13																	99853785		2203	4300	6503	SO:0001627	intron_variant	0			AK055110	CCDS9490.1, CCDS45064.1	13q32.3	2012-02-01	2007-04-20	2007-04-20	ENSG00000134882	ENSG00000134882			20486	protein-coding gene	gene with protein product			"""phosphoglycerate dehydrogenase like 1"""	PHGDHL1			Standard	NM_177967		Approved	FLJ30548, RP11-178C10.1	uc001voa.4	Q8NBM4	OTTHUMG00000017267	ENST00000403766.3:c.31+592G>T	13.37:g.99853785G>T		1346	B3KNV7|Q0VAB5|Q5W0W6|Q5W0W9|Q6GQR2|Q6P4B0|Q8N2E8|Q96NW2	Missense_Mutation	SNP	pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.M40I	ENST00000403766.3	37	c.120	CCDS45064.1	13	.	.	.	.	.	.	.	.	.	.	g	10.03	1.238527	0.22711	.	.	ENSG00000134882	ENST00000376440	.	.	.	3.06	1.29	0.21616	.	.	.	.	.	T	0.18923	0.0454	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24225	-1.0166	6	.	.	.	.	3.9149	0.09219	0.1285:0.0:0.6386:0.2329	.	40	Q8NBM4-2	.	I	40	.	.	M	+	3	0	UBAC2	98651786	0.002000	0.14202	0.003000	0.11579	0.005000	0.04900	0.662000	0.25038	0.319000	0.23209	-0.472000	0.04984	ATG	UBAC2	-	NULL	ENSG00000134882		0.502	UBAC2-002	NOVEL	basic|appris_principal|CCDS	protein_coding	UBAC2	HGNC	protein_coding	OTTHUMT00000045588.1	-	0.00	65	0	G	NM_177967		99853785	+1	tier1	-	no_errors	ENST00000376440	ensembl	human	known	74_37	missense	5.75	82	5	SNP	0.004	T
UBR4	23352	genome.wustl.edu	37	1	19443867	19443867	+	Silent	SNP	G	G	T	rs532333826	byFrequency	TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr1:19443867G>T	ENST00000375254.3	-	73	10698	c.10671C>A	c.(10669-10671)acC>acA	p.T3557T	UBR4_ENST00000375217.2_Silent_p.T3550T|UBR4_ENST00000375226.2_Silent_p.T3533T|UBR4_ENST00000375267.2_Silent_p.T3557T|UBR4_ENST00000375218.3_5'UTR	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3557					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GCTGGGTGGTGGTGTACCGCG	0.448																																																	0													171.0	140.0	151.0					1																	19443867		2203	4300	6503	SO:0001819	synonymous_variant	0			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.10671C>A	1.37:g.19443867G>T			A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Silent	SNP	superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.T3557	ENST00000375254.3	37	c.10671	CCDS189.1	1																																																																																			UBR4	-	NULL	ENSG00000127481		0.448	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR4	HGNC	protein_coding	OTTHUMT00000007085.1	-	0.00	55	0	G	NM_020765		19443867	-1	tier1	-	no_errors	ENST00000375267	ensembl	human	known	74_37	silent	10.26	35	4	SNP	1.000	T
UCA1	652995	genome.wustl.edu	37	19	15942106	15942106	+	RNA	SNP	G	G	A			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr19:15942106G>A	ENST00000397381.4	+	0	420				AC004510.3_ENST00000589310.1_lincRNA	NR_015379.3				urothelial cancer associated 1 (non-protein coding)																		ctgcccgatcgcctcagaagc	0.567																																																	0																																												0			BC005351		19p13.12	2013-07-02			ENSG00000214049	ENSG00000214049		"""Long non-coding RNAs"", ""-"""	37126	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 178"", ""cancer up-regulated drug resistant"""					18501714, 17416635, 23801869	Standard	NR_015379		Approved	LINC00178, CUDR, UCAT1	uc002nbr.4		OTTHUMG00000182287		19.37:g.15942106G>A				RNA	SNP	-	NULL	ENST00000397381.4	37	NULL		19																																																																																			UCA1	-	-	ENSG00000214049		0.567	UCA1-001	KNOWN	basic	lincRNA	UCA1	HGNC	processed_transcript	OTTHUMT00000362098.19		0.00	23	0	G	NR_015379		15942106	+1			no_errors	ENST00000397381	ensembl	human	known	74_37	rna	17.65	14	3	SNP	0.085	A
UNC79	57578	genome.wustl.edu	37	14	94160683	94160683	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr14:94160683G>T	ENST00000393151.2	+	48	7590	c.7590G>T	c.(7588-7590)atG>atT	p.M2530I	UNC79_ENST00000553484.1_Missense_Mutation_p.M2552I|UNC79_ENST00000256339.4_Missense_Mutation_p.M2353I|UNC79_ENST00000555664.1_Missense_Mutation_p.M2491I			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2530					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.M2353I(1)|p.M2552I(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TGTTTCAGATGGTAGAAATGG	0.388																																																	2	Substitution - Missense(2)	lung(2)											168.0	157.0	161.0					14																	94160683		2203	4300	6503	SO:0001583	missense	0			AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.7590G>T	14.37:g.94160683G>T	ENSP00000376858:p.Met2530Ile		B5MDL6|Q6ZUT7	Missense_Mutation	SNP	superfamily_P-loop_NTPase,superfamily_ARM-type_fold	p.M2552I	ENST00000393151.2	37	c.7656		14	.	.	.	.	.	.	.	.	.	.	G	19.58	3.853443	0.71719	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.16743	2.32;2.34;2.32;2.32	5.88	5.88	0.94601	.	0.037978	0.85682	D	0.000000	T	0.21186	0.0510	L	0.47716	1.5	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.01715	-1.1289	10	0.66056	D	0.02	-21.6824	19.8179	0.96578	0.0:0.0:1.0:0.0	.	2552	C9JQL1	.	I	2353;2491;2552;2530;2552	ENSP00000256339:M2353I;ENSP00000450868:M2491I;ENSP00000451360:M2552I;ENSP00000376858:M2530I	ENSP00000256339:M2353I	M	+	3	0	KIAA1409	93230436	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.775000	0.98995	2.789000	0.95967	0.655000	0.94253	ATG	UNC79	-	superfamily_P-loop_NTPase	ENSG00000133958		0.388	UNC79-006	KNOWN	basic	protein_coding	UNC79	HGNC	protein_coding	OTTHUMT00000412766.1		0.00	9	0	G	XM_028395		94160683	+1			no_errors	ENST00000553484	ensembl	human	known	74_37	missense	7.32	38	3	SNP	1.000	T
USP39	10713	genome.wustl.edu	37	2	85846379	85846379	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr2:85846379G>T	ENST00000323701.6	+	2	315	c.305G>T	c.(304-306)aGc>aTc	p.S102I	USP39_ENST00000459775.1_3'UTR|USP39_ENST00000409470.1_Missense_Mutation_p.S102I|USP39_ENST00000450066.2_Missense_Mutation_p.S24I|USP39_ENST00000409025.1_Missense_Mutation_p.S102I|USP39_ENST00000409766.3_Missense_Mutation_p.S102I	NM_006590.3	NP_006581.2	Q53GS9	SNUT2_HUMAN	ubiquitin specific peptidase 39	102	Arg-rich.				cell cycle (GO:0007049)|cell division (GO:0051301)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|ubiquitin-dependent protein catabolic process (GO:0006511)	spliceosomal complex (GO:0005681)	ubiquitinyl hydrolase activity (GO:0036459)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	19						GACCGGAGGAGCCGCCACTGC	0.473																																																	0													35.0	37.0	36.0					2																	85846379		2203	4300	6503	SO:0001583	missense	0			AF132955	CCDS33234.1, CCDS58716.1, CCDS58717.1, CCDS74534.1	2p11.2	2009-01-06	2005-08-08		ENSG00000168883	ENSG00000168883		"""Ubiquitin-specific peptidases"""	20071	protein-coding gene	gene with protein product	"""snRNP assembly defective 1 homolog (S.cerevisiae)"", ""small nuclear ribonucleoprotein 65kDa (U4/U6.U5)"""	611594	"""ubiquitin specific protease 39"""			12838346	Standard	NM_006590		Approved	SAD1, CGI-21, SNRNP65	uc002sqg.4	Q53GS9	OTTHUMG00000153090	ENST00000323701.6:c.305G>T	2.37:g.85846379G>T	ENSP00000312981:p.Ser102Ile		A8K086|B3KM40|B4DHT4|D6W5L4|G5E9H0|Q6NX47|Q96RK9|Q9BV89|Q9H381|Q9P050|Q9Y310	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67	p.S102I	ENST00000323701.6	37	c.305	CCDS33234.1	2	.	.	.	.	.	.	.	.	.	.	G	27.9	4.875121	0.91664	.	.	ENSG00000168883	ENST00000448971;ENST00000442708;ENST00000450066;ENST00000409268;ENST00000409025;ENST00000409470;ENST00000323701;ENST00000409766	T;T;T;T;T	0.34667	1.35;2.13;2.41;2.41;2.12	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.48537	0.1505	L	0.39514	1.22	0.58432	D	0.999999	P;B;D;D;D;P	0.63046	0.485;0.399;0.99;0.992;0.992;0.81	B;B;D;P;P;B	0.63793	0.313;0.146;0.918;0.901;0.83;0.23	T	0.41233	-0.9520	10	0.41790	T	0.15	-2.7111	15.4725	0.75449	0.0:0.0:1.0:0.0	.	24;24;102;102;102;102	B4DHT4;B7Z7L9;G5E9H0;B3KM40;B9A018;Q53GS9	.;.;.;.;.;SNUT2_HUMAN	I	24;24;24;102;102;102;102;102	ENSP00000396133:S24I;ENSP00000386572:S102I;ENSP00000386864:S102I;ENSP00000312981:S102I;ENSP00000386803:S102I	ENSP00000312981:S102I	S	+	2	0	USP39	85699890	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	8.639000	0.91023	2.243000	0.73865	0.305000	0.20034	AGC	USP39	-	NULL	ENSG00000168883		0.473	USP39-009	NOVEL	basic|appris_principal|CCDS	protein_coding	USP39	HGNC	protein_coding	OTTHUMT00000329892.1	-	0.00	40	0	G	NM_006590		85846379	+1	tier1	-	no_errors	ENST00000409470	ensembl	human	known	74_37	missense	8.00	46	4	SNP	1.000	T
USP7	7874	genome.wustl.edu	37	16	8996332	8996332	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr16:8996332G>T	ENST00000344836.4	-	17	2045	c.1847C>A	c.(1846-1848)cCa>cAa	p.P616Q	USP7_ENST00000535863.1_Missense_Mutation_p.P517Q|USP7_ENST00000381886.4_Missense_Mutation_p.P600Q	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	616					maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						TTGATCTTGTGGAAATCCCTG	0.323																																																	0													58.0	52.0	54.0					16																	8996332		2197	4300	6497	SO:0001583	missense	0			Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"""Ubiquitin-specific peptidases"""	12630	protein-coding gene	gene with protein product		602519	"""ubiquitin specific protease 7 (herpes virus-associated)"""	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.1847C>A	16.37:g.8996332G>T	ENSP00000343535:p.Pro616Gln		A6NMY8|B7Z815|H0Y3G8	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfam_MATH,pfam_USP7_ICP0-binding_dom,superfamily_TRAF-like,smart_MATH,pfscan_MATH,pfscan_Peptidase_C19/C67	p.P616Q	ENST00000344836.4	37	c.1847	CCDS32385.1	16	.	.	.	.	.	.	.	.	.	.	G	16.43	3.119733	0.56613	.	.	ENSG00000187555	ENST00000344836;ENST00000381886;ENST00000535863;ENST00000544549	T;T	0.08008	3.14;3.18	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.12390	0.0301	L	0.58428	1.81	0.80722	D	1	B;B	0.22080	0.064;0.064	B;B	0.12837	0.008;0.008	T	0.04664	-1.0935	10	0.36615	T	0.2	.	18.7609	0.91851	0.0:0.0:1.0:0.0	.	616;600	Q93009;B7Z815	UBP7_HUMAN;.	Q	616;624;517;517	ENSP00000343535:P616Q;ENSP00000443646:P517Q	ENSP00000343535:P616Q	P	-	2	0	USP7	8903833	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.695000	0.98691	2.503000	0.84419	0.555000	0.69702	CCA	USP7	-	NULL	ENSG00000187555		0.323	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP7	HGNC	protein_coding	OTTHUMT00000434268.2		0.00	10	0	G			8996332	-1			no_errors	ENST00000344836	ensembl	human	known	74_37	missense	11.43	31	4	SNP	1.000	T
USP7	7874	genome.wustl.edu	37	16	8997212	8997212	+	Nonsense_Mutation	SNP	G	G	C	rs374321309		TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr16:8997212G>C	ENST00000344836.4	-	16	1950	c.1752C>G	c.(1750-1752)taC>taG	p.Y584*	USP7_ENST00000535863.1_Nonsense_Mutation_p.Y485*|USP7_ENST00000381886.4_Nonsense_Mutation_p.Y568*	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	584					maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.Y584Y(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						TTTCTTCATCGTACATGTCAT	0.428																																																	1	Substitution - coding silent(1)	large_intestine(1)											144.0	120.0	128.0					16																	8997212		2197	4300	6497	SO:0001587	stop_gained	0			Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"""Ubiquitin-specific peptidases"""	12630	protein-coding gene	gene with protein product		602519	"""ubiquitin specific protease 7 (herpes virus-associated)"""	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.1752C>G	16.37:g.8997212G>C	ENSP00000343535:p.Tyr584*		A6NMY8|B7Z815|H0Y3G8	Nonsense_Mutation	SNP	pfam_Peptidase_C19/C67,pfam_MATH,pfam_USP7_ICP0-binding_dom,superfamily_TRAF-like,smart_MATH,pfscan_MATH,pfscan_Peptidase_C19/C67	p.Y584*	ENST00000344836.4	37	c.1752	CCDS32385.1	16	.	.	.	.	.	.	.	.	.	.	g	40	8.388127	0.98789	.	.	ENSG00000187555	ENST00000344836;ENST00000381886;ENST00000535863;ENST00000544549	.	.	.	5.35	-5.53	0.02552	.	0.055415	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	.	14.859	0.70366	0.7686:0.0:0.2314:0.0	.	.	.	.	X	584;592;485;485	.	ENSP00000343535:Y584X	Y	-	3	2	USP7	8904713	0.097000	0.21791	0.901000	0.35422	0.969000	0.65631	-0.319000	0.08039	-0.980000	0.03524	-0.372000	0.07161	TAC	USP7	-	NULL	ENSG00000187555		0.428	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP7	HGNC	protein_coding	OTTHUMT00000434268.2		0.00	31	0	G			8997212	-1			no_errors	ENST00000344836	ensembl	human	known	74_37	nonsense	8.33	21	2	SNP	0.571	C
USP8	9101	genome.wustl.edu	37	15	50733646	50733646	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr15:50733646G>T	ENST00000396444.3	+	3	543	c.205G>T	c.(205-207)Gtt>Ttt	p.V69F	USP8_ENST00000307179.4_Missense_Mutation_p.V69F|USP8_ENST00000425032.3_Intron|USP8_ENST00000558892.1_3'UTR|USP8_ENST00000433963.1_Missense_Mutation_p.V69F	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	69	MIT.				cell proliferation (GO:0008283)|endosome organization (GO:0007032)|mitotic cytokinesis (GO:0000281)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|Ras protein signal transduction (GO:0007265)|ubiquitin-dependent protein catabolic process (GO:0006511)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|midbody (GO:0030496)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		ATACGTGACTGTTTATAATCT	0.343																																																	0													84.0	82.0	83.0					15																	50733646		2196	4294	6490	SO:0001583	missense	0			D29956	CCDS10137.1, CCDS61632.1	15q21.1	2014-03-03	2005-08-08		ENSG00000138592	ENSG00000138592		"""Ubiquitin-specific peptidases"""	12631	protein-coding gene	gene with protein product		603158	"""ubiquitin specific protease 8"""			12838346, 9582025, 24482476	Standard	NM_005154		Approved	HumORF8, KIAA0055, UBPY, SPG59	uc001zyl.4	P40818	OTTHUMG00000131645	ENST00000396444.3:c.205G>T	15.37:g.50733646G>T	ENSP00000379721:p.Val69Phe		B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfam_USP8_dimer,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,superfamily_WW_dom,pfscan_Rhodanese-like_dom,pfscan_Peptidase_C19/C67	p.V69F	ENST00000396444.3	37	c.205	CCDS10137.1	15	.	.	.	.	.	.	.	.	.	.	G	32	5.175878	0.94807	.	.	ENSG00000138592	ENST00000396444;ENST00000433963;ENST00000307179	T;T;T	0.20598	2.06;2.06;2.06	5.54	5.54	0.83059	Domain of unknown function DUF1873 (1);	0.000000	0.85682	D	0.000000	T	0.46405	0.1391	L	0.56769	1.78	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.33214	-0.9877	10	0.72032	D	0.01	-19.4372	19.8426	0.96695	0.0:0.0:1.0:0.0	.	69	P40818	UBP8_HUMAN	F	69	ENSP00000379721:V69F;ENSP00000405537:V69F;ENSP00000302239:V69F	ENSP00000302239:V69F	V	+	1	0	USP8	48520938	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.360000	0.79487	2.751000	0.94390	0.591000	0.81541	GTT	USP8	-	pfam_USP8_dimer	ENSG00000138592		0.343	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP8	HGNC	protein_coding	OTTHUMT00000254541.1		0.00	11	0	G	NM_005154		50733646	+1			no_errors	ENST00000307179	ensembl	human	known	74_37	missense	9.43	48	5	SNP	1.000	T
VARS	7407	genome.wustl.edu	37	6	31760768	31760768	+	Silent	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr6:31760768G>T	ENST00000375663.3	-	3	957	c.517C>A	c.(517-519)Cga>Aga	p.R173R	VARS_ENST00000444930.2_5'UTR	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	173	GST C-terminal.				gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	CTCACGTATCGGAAAGGCAGC	0.592																																																	0													45.0	49.0	48.0					6																	31760768		1511	2709	4220	SO:0001819	synonymous_variant	0			BC012808	CCDS34412.1	6p21.3	2011-07-01		2005-07-05	ENSG00000204394	ENSG00000204394	6.1.1.9	"""Aminoacyl tRNA synthetases / Class I"""	12651	protein-coding gene	gene with protein product	"""valine tRNA ligase 1, cytoplasmic"""	192150	"""valyl-tRNA synthetase 2"""	VARS2		15779907	Standard	XM_005249362		Approved		uc003nxe.3	P26640	OTTHUMG00000031286	ENST00000375663.3:c.517C>A	6.37:g.31760768G>T			B0V1N1|B4DZ61|Q5JQ90|Q96E77|Q9UQM2	Silent	SNP	pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Glutathione_S-Trfase_N,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_GST_C,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,superfamily_tRNA-bd_arm,prints_Valyl-tRNA_ligase,tigrfam_Valyl-tRNA_ligase	p.R173	ENST00000375663.3	37	c.517	CCDS34412.1	6																																																																																			VARS	-	pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like	ENSG00000204394		0.592	VARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VARS	HGNC	protein_coding	OTTHUMT00000076619.2		0.00	97	0	G	NM_006295		31760768	-1			no_errors	ENST00000375663	ensembl	human	known	74_37	silent	5.88	48	3	SNP	1.000	T
VAV3	10451	genome.wustl.edu	37	1	108185341	108185341	+	Missense_Mutation	SNP	C	C	A			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr1:108185341C>A	ENST00000370056.4	-	20	2088	c.1814G>T	c.(1813-1815)gGa>gTa	p.G605V	VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000527011.1_Missense_Mutation_p.G605V|VAV3_ENST00000415432.2_Missense_Mutation_p.G45V|VAV3_ENST00000544443.1_Missense_Mutation_p.G9V	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	605	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.|Sufficient for interaction with ROS1.				angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of signal transduction (GO:0009967)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|vesicle fusion (GO:0006906)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|SH3/SH2 adaptor activity (GO:0005070)			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		GGGTGGTGTTCCAGAATAGTT	0.448																																																	0													125.0	120.0	122.0					1																	108185341		2203	4300	6503	SO:0001583	missense	0			AF118886	CCDS785.1, CCDS44181.1	1p13.3	2013-02-14	2007-07-25		ENSG00000134215	ENSG00000134215		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12659	protein-coding gene	gene with protein product		605541	"""vav 3 oncogene"""				Standard	NM_001079874		Approved		uc001dvk.1	Q9UKW4	OTTHUMG00000010995	ENST00000370056.4:c.1814G>T	1.37:g.108185341C>A	ENSP00000359073:p.Gly605Val		B1AMM0|B1APV5|B4E232|B7ZLR1|E9PQ97|O60498|O95230|Q9Y5X8	Nonsense_Mutation	SNP	NULL	p.E30*	ENST00000370056.4	37	c.88	CCDS785.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.9|28.9	4.956136|4.956136	0.92726|0.92726	.|.	.|.	ENSG00000134215|ENSG00000134215	ENST00000529809|ENST00000370056;ENST00000527011;ENST00000544443;ENST00000415432	.|T;T;T;T	.|0.33865	.|1.39;2.91;2.91;1.39	5.67|5.67	5.67|5.67	0.87782|0.87782	.|Src homology-3 domain (3);Variant SH3 (1);	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.60586	.|0.2280	M|M	0.82323|0.82323	2.585|2.585	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;0.999;1.0	.|D;D;D;D	.|0.97110	.|0.997;1.0;0.994;0.999	.|T	.|0.65393	.|-0.6179	.|10	0.87932|0.87932	D|D	0|0	.|.	19.3739|19.3739	0.94501|0.94501	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|605;9;605;45	.|E9PQ97;B7Z3Z5;Q9UKW4;Q9UKW4-3	.|.;.;VAV3_HUMAN;.	X|V	133|605;605;9;45	.|ENSP00000359073:G605V;ENSP00000432540:G605V;ENSP00000446404:G9V;ENSP00000394897:G45V	ENSP00000434944:E30X|ENSP00000359073:G605V	E|G	-|-	1|2	0|0	VAV3|VAV3	107986864|107986864	0.983000|0.983000	0.35010|0.35010	0.161000|0.161000	0.22692|0.22692	0.900000|0.900000	0.52787|0.52787	4.952000|4.952000	0.63618|0.63618	2.682000|2.682000	0.91365|0.91365	0.555000|0.555000	0.69702|0.69702	GAA|GGA	VAV3	-	NULL	ENSG00000134215		0.448	VAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VAV3	HGNC	protein_coding	OTTHUMT00000030242.2	-	0.00	31	0	C	NM_006113		108185341	-1	tier1	-	no_errors	ENST00000525231	ensembl	human	known	74_37	nonsense	6.78	55	4	SNP	0.973	A
VASH2	79805	genome.wustl.edu	37	1	213161896	213161896	+	Silent	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr1:213161896G>T	ENST00000517399.1	+	7	1038	c.1038G>T	c.(1036-1038)ctG>ctT	p.L346L	VASH2_ENST00000366966.2_Silent_p.L281L|VASH2_ENST00000366967.2_Silent_p.L242L|VASH2_ENST00000366968.4_Silent_p.L281L|VASH2_ENST00000366965.2_Silent_p.L302L			Q86V25	VASH2_HUMAN	vasohibin 2	346					positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)	cytoplasm (GO:0005737)				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(81;0.00479)|all cancers(67;0.00844)|GBM - Glioblastoma multiforme(131;0.0496)|Epithelial(68;0.0986)		TGAGCACTCTGAATGAAGTGG	0.498																																																	0													123.0	114.0	117.0					1																	213161896		2203	4300	6503	SO:0001819	synonymous_variant	0			AK022567	CCDS1511.1, CCDS44315.1, CCDS44316.1, CCDS73026.1	1q23	2008-02-05			ENSG00000143494	ENSG00000143494			25723	protein-coding gene	gene with protein product		610471				16528006	Standard	XR_247041		Approved	FLJ12505	uc001hjw.3	Q86V25	OTTHUMG00000036925	ENST00000517399.1:c.1038G>T	1.37:g.213161896G>T			B4DYZ5|Q2VT46|Q5VTE7|Q5VTE9|Q7Z6E3|Q8IZ24|Q9H9W5	Silent	SNP	NULL	p.L346	ENST00000517399.1	37	c.1038	CCDS1511.1	1																																																																																			VASH2	-	NULL	ENSG00000143494		0.498	VASH2-013	KNOWN	basic|appris_principal|CCDS	protein_coding	VASH2	HGNC	protein_coding	OTTHUMT00000381686.1		0.00	23	0	G	NM_024749		213161896	+1			no_errors	ENST00000517399	ensembl	human	known	74_37	silent	8.51	43	4	SNP	1.000	T
VBP1	7411	genome.wustl.edu	37	X	154444770	154444770	+	Missense_Mutation	SNP	T	T	C			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chrX:154444770T>C	ENST00000286428.5	+	1	128	c.11T>C	c.(10-12)gTt>gCt	p.V4A	VBP1_ENST00000535916.1_Intron	NM_003372.5	NP_003363.1	P61758	PFD3_HUMAN	von Hippel-Lindau binding protein 1	4					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)				NS(1)|endometrium(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ATGGCGGCCGTTAAGGACAGT	0.652																																																	0													39.0	29.0	33.0					X																	154444770		2133	4145	6278	SO:0001583	missense	0			U56833	CCDS14765.1	Xq28	2008-07-07			ENSG00000155959	ENSG00000155959			12662	protein-coding gene	gene with protein product	"""prefoldin 3"""	300133				8674032, 9339366	Standard	NM_003372		Approved	PFD3, PFDN3	uc004fnc.3	P61758	OTTHUMG00000022666	ENST00000286428.5:c.11T>C	X.37:g.154444770T>C	ENSP00000286428:p.Val4Ala		B2R8L5|O55228|Q15765|Q5JT81|Q86X96	Missense_Mutation	SNP	pfam_Prefoldin_subunit_alpha,superfamily_Prefoldin,pirsf_Prefoldin_su-3	p.V4A	ENST00000286428.5	37	c.11	CCDS14765.1	X	.	.	.	.	.	.	.	.	.	.	t	0.926	-0.714196	0.03206	.	.	ENSG00000155959	ENST00000286428	T	0.39592	1.07	3.89	1.07	0.20283	.	0.243130	0.39985	N	0.001212	T	0.16599	0.0399	N	0.08118	0	0.19945	N	0.999944	B	0.02656	0.0	B	0.01281	0.0	T	0.27839	-1.0062	10	0.07990	T	0.79	-1.6147	6.902	0.24288	0.0:0.5717:0.3265:0.1018	.	4	P61758	PFD3_HUMAN	A	4	ENSP00000286428:V4A	ENSP00000286428:V4A	V	+	2	0	VBP1	154097964	0.001000	0.12720	0.000000	0.03702	0.006000	0.05464	0.336000	0.19823	-0.000000	0.14550	-0.265000	0.10407	GTT	VBP1	-	NULL	ENSG00000155959		0.652	VBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VBP1	HGNC	protein_coding	OTTHUMT00000058806.1	-	0.00	133	0	T			154444770	+1	tier1	-	no_errors	ENST00000286428	ensembl	human	known	74_37	missense	28.89	128	52	SNP	0.010	C
VIPR1	7433	genome.wustl.edu	37	3	42567437	42567437	+	Silent	SNP	G	G	A			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr3:42567437G>A	ENST00000325123.4	+	4	464	c.351G>A	c.(349-351)ccG>ccA	p.P117P	VIPR1-AS1_ENST00000602176.1_RNA|VIPR1-AS1_ENST00000452639.3_RNA|VIPR1_ENST00000438259.2_5'UTR|VIPR1-AS1_ENST00000596630.1_RNA|VIPR1-AS1_ENST00000601312.1_RNA|VIPR1_ENST00000473575.1_3'UTR|VIPR1-AS1_ENST00000598837.1_RNA|VIPR1-AS1_ENST00000600342.1_RNA|VIPR1_ENST00000543411.1_Silent_p.P70P|VIPR1-AS1_ENST00000593611.1_RNA|VIPR1-AS1_ENST00000593621.1_RNA|VIPR1_ENST00000433647.1_Silent_p.P76P	NM_001251885.1|NM_004624.3	NP_001238814.1|NP_004615.2	P32241	VIPR1_HUMAN	vasoactive intestinal peptide receptor 1	117					digestion (GO:0007586)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|muscle contraction (GO:0006936)|positive regulation of cell proliferation (GO:0008284)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	vasoactive intestinal polypeptide receptor activity (GO:0004999)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3)	18				KIRC - Kidney renal clear cell carcinoma(284;0.241)		AGCCTGGCCCGTACCCCATTG	0.662																																																	0													81.0	62.0	69.0					3																	42567437		2203	4300	6503	SO:0001819	synonymous_variant	0			AH005329	CCDS2698.1, CCDS58827.1, CCDS58828.1, CCDS58829.1	3p22	2012-08-10			ENSG00000114812	ENSG00000114812		"""GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"""	12694	protein-coding gene	gene with protein product	"""VIP and PACAP receptor 1"""	192321				7708752	Standard	NM_004624		Approved	VPAC1, RDC1, HVR1, VPAC1R	uc003clf.2	P32241	OTTHUMG00000131792	ENST00000325123.4:c.351G>A	3.37:g.42567437G>A			A5JUT9|B3KPV1|B4DEB5|B4DGI4|F5H1F5|G3V0I1|Q15871|Q6P2M6	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_VIP_rcpt_1,prints_GPCR_2_secretin-like,prints_GPCR_2_VIP_rcpt	p.P117	ENST00000325123.4	37	c.351	CCDS2698.1	3																																																																																			VIPR1	-	pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,prints_GPCR_2_VIP_rcpt_1,prints_GPCR_2_VIP_rcpt	ENSG00000114812		0.662	VIPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VIPR1	HGNC	protein_coding	OTTHUMT00000254728.4	-	0.00	140	0	G	NM_004624		42567437	+1	tier1	-	no_errors	ENST00000325123	ensembl	human	known	74_37	silent	41.33	44	31	SNP	1.000	A
VPS13B	157680	genome.wustl.edu	37	8	100791059	100791059	+	Missense_Mutation	SNP	G	G	A	rs369062407		TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr8:100791059G>A	ENST00000358544.2	+	42	7765	c.7654G>A	c.(7654-7656)Gca>Aca	p.A2552T	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.A2527T	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2552					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)			CTTAGCTCAAGCAGACTGTAA	0.438																																					Colon(161;2205 2542 7338 31318)												0								G	THR/ALA,THR/ALA	0,4406		0,0,2203	122.0	114.0	116.0		7654,7579	3.8	0.3	8		116	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	VPS13B	NM_017890.3,NM_152564.3	58,58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	2552/4023,2527/3998	100791059	1,13005	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.7654G>A	8.37:g.100791059G>A	ENSP00000351346:p.Ala2552Thr		C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	pfam_Autophagy-rel_C	p.A2552T	ENST00000358544.2	37	c.7654	CCDS6280.1	8	.	.	.	.	.	.	.	.	.	.	G	13.92	2.381214	0.42207	0.0	1.16E-4	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.69175	-0.38;-0.38	5.55	3.75	0.43078	.	0.368646	0.28036	N	0.016848	T	0.53769	0.1817	L	0.40543	1.245	0.09310	N	0.999995	P;B	0.35272	0.493;0.002	B;B	0.30495	0.116;0.001	T	0.46162	-0.9211	10	0.48119	T	0.1	.	10.7019	0.45933	0.209:0.0:0.791:0.0	.	2527;2552	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	T	2527;2552	ENSP00000349685:A2527T;ENSP00000351346:A2552T	ENSP00000349685:A2527T	A	+	1	0	VPS13B	100860235	0.892000	0.30473	0.349000	0.25694	0.992000	0.81027	2.654000	0.46699	0.693000	0.31634	0.655000	0.94253	GCA	VPS13B	-	NULL	ENSG00000132549		0.438	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13B	HGNC	protein_coding	OTTHUMT00000277138.1		0.00	24	0	G	NM_184042		100791059	+1			no_errors	ENST00000358544	ensembl	human	known	74_37	missense	5.19	73	4	SNP	0.049	A
VPS33B	26276	genome.wustl.edu	37	15	91561069	91561069	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr15:91561069G>T	ENST00000333371.3	-	2	496	c.143C>A	c.(142-144)cCt>cAt	p.P48H	VPS33B_ENST00000557358.1_Intron|VPS33B_ENST00000535906.1_Intron|VPS33B_ENST00000535843.1_5'UTR	NM_018668.3	NP_061138.3	Q9H267	VP33B_HUMAN	vacuolar protein sorting 33 homolog B (yeast)	48					lysosome localization (GO:0032418)|melanosome localization (GO:0032400)|membrane fusion (GO:0061025)|platelet alpha granule organization (GO:0070889)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule (GO:0031091)				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16	Lung NSC(78;0.0987)|all_lung(78;0.175)					TCGATCCAAAGGGCTCATGAG	0.468																																																	0													136.0	118.0	124.0					15																	91561069		2198	4298	6496	SO:0001583	missense	0			AF201694	CCDS10369.1, CCDS73783.1	15q26.1	2006-12-19	2006-12-19		ENSG00000184056	ENSG00000184056			12712	protein-coding gene	gene with protein product		608552	"""vacuolar protein sorting 33B (yeast homolog)"""			8996080	Standard	XM_005254887		Approved	FLJ14848	uc002bqp.1	Q9H267	OTTHUMG00000149835	ENST00000333371.3:c.143C>A	15.37:g.91561069G>T	ENSP00000327650:p.Pro48His		B3KQF6|Q96K14|Q9NRP6|Q9NSF3	Missense_Mutation	SNP	pfam_Sec1-like,superfamily_Sec1-like	p.P48H	ENST00000333371.3	37	c.143	CCDS10369.1	15	.	.	.	.	.	.	.	.	.	.	G	24.7	4.564719	0.86439	.	.	ENSG00000184056	ENST00000333371;ENST00000537510	T	0.78246	-1.16	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.88905	0.6564	M	0.89414	3.03	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	D	0.86675	0.1913	10	0.15952	T	0.53	-3.415	17.8351	0.88693	0.0:0.0:1.0:0.0	.	48	Q9H267	VP33B_HUMAN	H	48;3	ENSP00000327650:P48H	ENSP00000327650:P48H	P	-	2	0	VPS33B	89362073	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.942000	0.75928	2.573000	0.86826	0.462000	0.41574	CCT	VPS33B	-	pfam_Sec1-like,superfamily_Sec1-like	ENSG00000184056		0.468	VPS33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS33B	HGNC	protein_coding	OTTHUMT00000313496.1		0.00	29	0	G	NM_018668		91561069	-1			no_errors	ENST00000333371	ensembl	human	known	74_37	missense	5.33	71	4	SNP	1.000	T
WASH3P	374666	genome.wustl.edu	37	15	102506815	102506816	+	RNA	DEL	CC	CC	-	rs151176585		TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	CC	CC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr15:102506815_102506816delCC	ENST00000557932.1	+	0	172							C4AMC7	WASH3_HUMAN	WAS protein family homolog 3 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)			central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						tacctctccacctggagcgcac	0.421																																																	0																																												0					15q26.3	2014-03-20	2008-01-16	2008-01-16	ENSG00000185596	ENSG00000185596		"""WAS protein homologs"""	24362	pseudogene	pseudogene			"""family with sequence similarity 39, member D pseudogene"""	FAM39DP		11701968, 18159949	Standard	NR_003659		Approved	FLJ25222	uc002cdi.3	C4AMC7	OTTHUMG00000172275		15.37:g.102506815_102506816delCC				RNA	DEL	-	NULL	ENST00000557932.1	37	NULL		15																																																																																			WASH3P	-	-	ENSG00000185596		0.421	WASH3P-001	KNOWN	basic	processed_transcript	WASH3P	HGNC	pseudogene	OTTHUMT00000417608.1		0.00	21	0	CC	NM_199163		102506816	+1			no_errors	ENST00000559884	ensembl	human	known	74_37	rna	33.33	6	3	DEL	0.000:0.000	0
WDFY3	23001	genome.wustl.edu	37	4	85715781	85715781	+	Silent	SNP	C	C	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr4:85715781C>T	ENST00000295888.4	-	21	3785	c.3378G>A	c.(3376-3378)gtG>gtA	p.V1126V	WDFY3_ENST00000322366.6_Silent_p.V1126V	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1126					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TTGCTCGGCGCACAACAGTAA	0.448																																																	0													131.0	132.0	131.0					4																	85715781		2203	4300	6503	SO:0001819	synonymous_variant	0			AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.3378G>A	4.37:g.85715781C>T			Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Silent	SNP	pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.V1126	ENST00000295888.4	37	c.3378	CCDS3609.1	4																																																																																			WDFY3	-	superfamily_ConA-like_lec_gl_sf	ENSG00000163625		0.448	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY3	HGNC	protein_coding	OTTHUMT00000252811.2	-	0.00	16	0	C	NM_014991		85715781	-1	tier1	-	no_errors	ENST00000295888	ensembl	human	known	74_37	silent	16.25	67	13	SNP	0.312	T
WDR11	55717	genome.wustl.edu	37	10	122630715	122630715	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr10:122630715G>T	ENST00000263461.6	+	10	1574	c.1328G>T	c.(1327-1329)aGa>aTa	p.R443I		NM_018117.11	NP_060587.8	Q8WWQ0	PHIP_HUMAN	WD repeat domain 11	0					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						GAACATCCCAGAGGTTCAATT	0.433																																																	0													85.0	77.0	80.0					10																	122630715		2203	4300	6503	SO:0001583	missense	0			AF320223	CCDS7619.1	10q26	2013-01-21	2010-01-06	2010-01-06	ENSG00000120008	ENSG00000120008		"""WD repeat domain containing"""	13831	protein-coding gene	gene with protein product		606417	"""bromodomain and WD repeat domain containing 2"""	BRWD2		10718198, 11536051	Standard	NM_018117		Approved	KIAA1351, FLJ10506, WDR15, HH14, DR11	uc021pzt.1	Q9BZH6	OTTHUMG00000019171	ENST00000263461.6:c.1328G>T	10.37:g.122630715G>T	ENSP00000263461:p.Arg443Ile		A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.R443I	ENST00000263461.6	37	c.1328	CCDS7619.1	10	.	.	.	.	.	.	.	.	.	.	G	8.167	0.790844	0.16258	.	.	ENSG00000120008	ENST00000263461	D	0.90324	-2.65	5.38	1.02	0.19986	.	0.454722	0.25798	N	0.028238	T	0.74891	0.3776	N	0.08118	0	0.09310	N	0.999999	B	0.12013	0.005	B	0.14023	0.01	T	0.60141	-0.7321	10	0.18710	T	0.47	-11.8879	5.3604	0.16085	0.5943:0.1487:0.2571:0.0	.	443	Q9BZH6	WDR11_HUMAN	I	443	ENSP00000263461:R443I	ENSP00000263461:R443I	R	+	2	0	WDR11	122620705	0.005000	0.15991	0.999000	0.59377	0.310000	0.27922	0.312000	0.19397	0.333000	0.23563	-0.438000	0.05819	AGA	WDR11	-	NULL	ENSG00000120008		0.433	WDR11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	WDR11	HGNC	protein_coding	OTTHUMT00000050707.2		0.00	29	0	G			122630715	+1			no_errors	ENST00000263461	ensembl	human	known	74_37	missense	5.00	57	3	SNP	0.003	T
WDR66	144406	genome.wustl.edu	37	12	122396966	122396966	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr12:122396966G>T	ENST00000288912.4	+	13	2953	c.2099G>T	c.(2098-2100)aGc>aTc	p.S700I	WDR66_ENST00000397454.2_Missense_Mutation_p.S700I	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	700							calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		ACTCATATAAGCTTTTCCCAT	0.408																																					Esophageal Squamous(85;849 1794 49757 52143)												0													179.0	166.0	170.0					12																	122396966		1835	4084	5919	SO:0001583	missense	0			AL833930	CCDS41853.1, CCDS53840.1	12q24.31	2014-07-31			ENSG00000158023	ENSG00000158023		"""WD repeat domain containing"""	28506	protein-coding gene	gene with protein product						17967944	Standard	NM_001178003		Approved	MGC33630, CaM-IP4	uc009zxk.3	Q8TBY9	OTTHUMG00000168948	ENST00000288912.4:c.2099G>T	12.37:g.122396966G>T	ENSP00000288912:p.Ser700Ile		C9J1W2|Q8IYA3|Q8N898|Q8NDE7	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.S700I	ENST00000288912.4	37	c.2099	CCDS41853.1	12	.	.	.	.	.	.	.	.	.	.	G	16.46	3.129896	0.56721	.	.	ENSG00000158023	ENST00000288912;ENST00000397454	T;T	0.64991	0.5;-0.13	4.87	3.94	0.45596	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.556710	0.21036	N	0.081248	T	0.60222	0.2252	M	0.61703	1.905	0.22693	N	0.998846	B	0.25667	0.131	B	0.29440	0.102	T	0.54636	-0.8264	10	0.36615	T	0.2	.	14.1104	0.65118	0.0:0.4026:0.5974:0.0	.	700	Q8TBY9	WDR66_HUMAN	I	700	ENSP00000288912:S700I;ENSP00000380595:S700I	ENSP00000288912:S700I	S	+	2	0	WDR66	120881349	0.995000	0.38212	0.978000	0.43139	0.933000	0.57130	2.919000	0.48836	2.220000	0.72140	0.491000	0.48974	AGC	WDR66	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000158023		0.408	WDR66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR66	HGNC	protein_coding	OTTHUMT00000401700.1		0.00	26	0	G	NM_144668		122396966	+1			no_errors	ENST00000288912	ensembl	human	known	74_37	missense	6.45	58	4	SNP	0.901	T
WDR7	23335	genome.wustl.edu	37	18	54346668	54346668	+	Splice_Site	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr18:54346668G>T	ENST00000254442.3	+	3	476	c.265G>T	c.(265-267)Gga>Tga	p.G89*	WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Splice_Site_p.G89*	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	89					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		ATCTGAAAGTGGGTAAGTATT	0.368																																																	0													136.0	118.0	124.0					18																	54346668		2203	4300	6503	SO:0001630	splice_region_variant	0			AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"""WD repeat domain containing"""	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.266+1G>T	18.37:g.54346668G>T			A7E2C8|Q86UX5|Q86VP2|Q96PS7	Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G89*	ENST00000254442.3	37	c.265	CCDS11962.1	18	.	.	.	.	.	.	.	.	.	.	G	40	8.436297	0.98810	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000398311	.	.	.	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	19.7681	0.96350	0.0:0.0:1.0:0.0	.	.	.	.	X	89	.	ENSP00000254442:G89X	G	+	1	0	WDR7	52497666	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.598000	0.98277	2.768000	0.95171	0.655000	0.94253	GGA	WDR7	-	pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000091157		0.368	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR7	HGNC	protein_coding	OTTHUMT00000256062.1		0.00	24	0	G		Nonsense_Mutation	54346668	+1			no_errors	ENST00000254442	ensembl	human	known	74_37	nonsense	6.98	39	3	SNP	1.000	T
XDH	7498	genome.wustl.edu	37	2	31567580	31567580	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr2:31567580G>T	ENST00000379416.3	-	31	3422	c.3374C>A	c.(3373-3375)aCa>aAa	p.T1125K		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	1125					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	CAAGCTCACTGTGTCCATGTA	0.527																																					Colon(66;682 1445 30109 40147)												0													161.0	125.0	137.0					2																	31567580		2203	4300	6503	SO:0001583	missense	0			D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"""xanthene dehydrogenase"""			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.3374C>A	2.37:g.31567580G>T	ENSP00000368727:p.Thr1125Lys		Q16681|Q16712|Q4PJ16	Missense_Mutation	SNP	pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Xanthine_DH_ssu	p.T1125K	ENST00000379416.3	37	c.3374	CCDS1775.1	2	.	.	.	.	.	.	.	.	.	.	G	13.25	2.180439	0.38511	.	.	ENSG00000158125	ENST00000379416	T	0.37235	1.21	5.11	0.832	0.18867	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (3);	0.580051	0.19391	N	0.115418	T	0.13030	0.0316	N	0.00595	-1.35	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.21724	-1.0237	10	0.44086	T	0.13	.	17.3554	0.87334	0.0:0.5855:0.4145:0.0	.	1125	P47989	XDH_HUMAN	K	1125	ENSP00000368727:T1125K	ENSP00000368727:T1125K	T	-	2	0	XDH	31421084	0.001000	0.12720	0.003000	0.11579	0.583000	0.36354	1.290000	0.33319	0.230000	0.21059	0.549000	0.68633	ACA	XDH	-	pfam_AldOxase/xan_DH_Mopterin-bd,superfamily_AldOxase/xan_DH_Mopterin-bd,pirsf_Ald_Oxase/xanthine_DH	ENSG00000158125		0.527	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XDH	HGNC	protein_coding	OTTHUMT00000216840.1	-	0.00	67	0	G	NM_000379		31567580	-1	tier1	-	no_errors	ENST00000379416	ensembl	human	known	74_37	missense	6.67	56	4	SNP	0.002	T
XIRP2	129446	genome.wustl.edu	37	2	168102105	168102105	+	Silent	SNP	A	A	G			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr2:168102105A>G	ENST00000409195.1	+	9	4292	c.4203A>G	c.(4201-4203)gaA>gaG	p.E1401E	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Silent_p.E1179E|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Silent_p.E1401E|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1226					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGATTTCTGAAGAATCACATA	0.338																																																	0													64.0	60.0	61.0					2																	168102105		1838	4092	5930	SO:0001819	synonymous_variant	0			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.4203A>G	2.37:g.168102105A>G			A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	pfam_Actin-binding_Xin_repeat	p.E1401	ENST00000409195.1	37	c.4203	CCDS42769.1	2																																																																																			XIRP2	-	NULL	ENSG00000163092		0.338	XIRP2-001	KNOWN	basic|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333547.1	-	0.00	11	0	A	NM_152381		168102105	+1	tier1	-	no_errors	ENST00000295237	ensembl	human	known	74_37	silent	52.63	9	10	SNP	0.976	G
XIRP2	129446	genome.wustl.edu	37	2	168104656	168104656	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr2:168104656G>T	ENST00000409195.1	+	9	6843	c.6754G>T	c.(6754-6756)Gac>Tac	p.D2252Y	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.D2030Y|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.D2252Y|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2077					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GAAAAGCCAGGACTTTCTAAT	0.358																																																	0													70.0	65.0	67.0					2																	168104656		1831	4087	5918	SO:0001583	missense	0			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.6754G>T	2.37:g.168104656G>T	ENSP00000386840:p.Asp2252Tyr		A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	pfam_Actin-binding_Xin_repeat	p.D2252Y	ENST00000409195.1	37	c.6754	CCDS42769.1	2	.	.	.	.	.	.	.	.	.	.	G	13.83	2.354114	0.41700	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.20200	2.09;2.09;2.09	6.06	4.05	0.47172	.	0.594603	0.18306	N	0.145270	T	0.26268	0.0641	M	0.63428	1.95	0.34531	D	0.709178	P;P;P	0.46220	0.8;0.874;0.874	B;P;P	0.48840	0.388;0.592;0.592	T	0.43426	-0.9392	10	0.66056	D	0.02	-13.4543	3.4858	0.07619	0.2651:0.2101:0.5248:0.0	.	2077;2077;2030	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	Y	2252;2252;2030	ENSP00000386840:D2252Y;ENSP00000295237:D2252Y;ENSP00000387255:D2030Y	ENSP00000295237:D2252Y	D	+	1	0	XIRP2	167812902	1.000000	0.71417	1.000000	0.80357	0.545000	0.35147	2.857000	0.48349	1.585000	0.49928	-0.136000	0.14681	GAC	XIRP2	-	NULL	ENSG00000163092		0.358	XIRP2-001	KNOWN	basic|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333547.1		0.00	18	0	G	NM_152381		168104656	+1			no_errors	ENST00000295237	ensembl	human	known	74_37	missense	11.11	32	4	SNP	0.998	T
XRRA1	143570	genome.wustl.edu	37	11	74638455	74638455	+	Missense_Mutation	SNP	C	C	A			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr11:74638455C>A	ENST00000340360.6	-	7	810	c.479G>T	c.(478-480)gGa>gTa	p.G160V	XRRA1_ENST00000321448.8_5'UTR|XRRA1_ENST00000527087.1_Missense_Mutation_p.G160V|XRRA1_ENST00000533598.1_5'UTR	NM_182969.2	NP_892014.1			X-ray radiation resistance associated 1											breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						CTTAAAGTCTCCATATTTCAC	0.413																																																	0													103.0	97.0	99.0					11																	74638455		1858	4082	5940	SO:0001583	missense	0			AK074152	CCDS44680.1, CCDS58159.1, CCDS58160.1	11q13.4	2010-03-19			ENSG00000166435	ENSG00000166435			18868	protein-coding gene	gene with protein product		609788				12908878, 17295261	Standard	NM_182969		Approved	FLJ00225	uc009yub.3	Q6P2D8		ENST00000340360.6:c.479G>T	11.37:g.74638455C>A	ENSP00000339918:p.Gly160Val			Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.G160V	ENST00000340360.6	37	c.479	CCDS44680.1	11	.	.	.	.	.	.	.	.	.	.	C	19.91	3.914544	0.72983	.	.	ENSG00000166435	ENST00000340360;ENST00000344880;ENST00000398418;ENST00000527087;ENST00000525407	T;T;T	0.58940	1.72;0.3;0.56	6.06	5.14	0.70334	.	0.081242	0.52532	D	0.000076	T	0.74053	0.3666	M	0.80746	2.51	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.81914	0.992;0.995	T	0.74899	-0.3507	10	0.52906	T	0.07	-11.4934	10.2743	0.43501	0.0:0.913:0.0:0.087	.	160;160	Q6P2D8;Q6P2D8-2	XRRA1_HUMAN;.	V	160;160;160;160;168	ENSP00000339918:G160V;ENSP00000435838:G160V;ENSP00000437334:G168V	ENSP00000339918:G160V	G	-	2	0	XRRA1	74316103	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.552000	0.45828	2.882000	0.98803	0.655000	0.94253	GGA	XRRA1	-	NULL	ENSG00000166435		0.413	XRRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XRRA1	HGNC	protein_coding	OTTHUMT00000384715.1	-	0.00	50	0	C	NM_182969		74638455	-1	tier1	-	no_errors	ENST00000340360	ensembl	human	known	74_37	missense	5.56	85	5	SNP	1.000	A
YTHDF2	51441	genome.wustl.edu	37	1	29070455	29070456	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	CA	CA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr1:29070455_29070456delCA	ENST00000373812.3	+	4	2035_2036	c.1673_1674delCA	c.(1672-1674)tcafs	p.S558fs	YTHDF2_ENST00000542507.1_Frame_Shift_Del_p.S558fs|YTHDF2_ENST00000478283.1_3'UTR|YTHDF2_ENST00000541996.1_Frame_Shift_Del_p.S508fs	NM_016258.2	NP_057342.2	Q9Y5A9	YTHD2_HUMAN	YTH domain family, member 2	558	Interaction with m6A-containing mRNAs.				humoral immune response (GO:0006959)|regulation of mRNA stability (GO:0043488)	cytoplasmic mRNA processing body (GO:0000932)	N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		GATGACTTCTCACACTATGAGA	0.416																																																	0																																										SO:0001589	frameshift_variant	0			AF155095	CCDS41296.1, CCDS53287.1	1p35	2008-02-05	2004-11-16		ENSG00000198492	ENSG00000198492			31675	protein-coding gene	gene with protein product		610640	"""YTH domain family 2"""			10508479	Standard	NM_016258		Approved	HGRG8, NY-REN-2	uc021okf.1	Q9Y5A9	OTTHUMG00000003648	ENST00000373812.3:c.1673_1674delCA	1.37:g.29070457_29070458delCA	ENSP00000362918:p.Ser558fs		A6NKG4|A8K966|B4E1G7|D3DPM8|Q5VSZ9|Q8TDH0|Q9BUJ5	Frame_Shift_Del	DEL	pfam_YTH_domain,pfscan_YTH_domain	p.H559fs	ENST00000373812.3	37	c.1673_1674	CCDS41296.1	1																																																																																			YTHDF2	-	NULL	ENSG00000198492		0.416	YTHDF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YTHDF2	HGNC	protein_coding	OTTHUMT00000010335.1		0.00	25	0	CA	NM_016258		29070456	+1	tier1		no_errors	ENST00000373812	ensembl	human	known	74_37	frame_shift_del	27.66	34	13	DEL	1.000:1.000	-
ZBTB11	27107	genome.wustl.edu	37	3	101371709	101371709	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr3:101371709G>T	ENST00000312938.4	-	9	2963	c.2383C>A	c.(2383-2385)Cag>Aag	p.Q795K		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	795					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(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						AATTGGCACTGGAATGGCTTC	0.388																																																	0													143.0	134.0	137.0					3																	101371709		2203	4300	6503	SO:0001583	missense	0			U69274	CCDS2943.1	3q12.3	2013-01-09			ENSG00000066422	ENSG00000066422		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	16740	protein-coding gene	gene with protein product							Standard	NM_014415		Approved	ZNF-U69274, ZNF913	uc003dve.4	O95625	OTTHUMG00000159133	ENST00000312938.4:c.2383C>A	3.37:g.101371709G>T	ENSP00000326200:p.Gln795Lys		Q2NKP9	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.Q795K	ENST00000312938.4	37	c.2383	CCDS2943.1	3	.	.	.	.	.	.	.	.	.	.	G	16.61	3.171594	0.57584	.	.	ENSG00000066422	ENST00000312938	T	0.16597	2.33	4.92	4.92	0.64577	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.063991	0.64402	D	0.000004	T	0.09379	0.0231	N	0.12443	0.215	0.80722	D	1	P	0.38617	0.64	B	0.36567	0.228	T	0.27054	-1.0085	10	0.10902	T	0.67	-6.1529	14.1378	0.65297	0.0:0.1501:0.8499:0.0	.	795	O95625	ZBT11_HUMAN	K	795	ENSP00000326200:Q795K	ENSP00000326200:Q795K	Q	-	1	0	ZBTB11	102854399	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.455000	0.80726	2.420000	0.82092	0.655000	0.94253	CAG	ZBTB11	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000066422		0.388	ZBTB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB11	HGNC	protein_coding	OTTHUMT00000353441.2		0.00	22	0	G	NM_014415		101371709	-1			no_errors	ENST00000312938	ensembl	human	known	74_37	missense	5.33	71	4	SNP	1.000	T
ZC3H13	23091	genome.wustl.edu	37	13	46543763	46543763	+	Missense_Mutation	SNP	C	C	A			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr13:46543763C>A	ENST00000242848.4	-	14	3264	c.2916G>T	c.(2914-2916)gaG>gaT	p.E972D	ZC3H13_ENST00000282007.3_Missense_Mutation_p.E972D|ZC3H13_ENST00000378921.2_De_novo_Start_OutOfFrame			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	972	Lys-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		CAACATCATCCTCTTTCTTTT	0.353																																					Esophageal Squamous(187;747 2077 11056 31291 44172)												0													156.0	153.0	154.0					13																	46543763		2203	4300	6503	SO:0001583	missense	0			AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"""Zinc fingers, CCCH-type domain containing"""	20368	protein-coding gene	gene with protein product			"""KIAA0853"""	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.2916G>T	13.37:g.46543763C>A	ENSP00000242848:p.Glu972Asp		A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.E972D	ENST00000242848.4	37	c.2916		13	.	.	.	.	.	.	.	.	.	.	C	0.857	-0.736531	0.03111	.	.	ENSG00000123200	ENST00000242848;ENST00000282007	T;T	0.35236	2.31;1.32	5.78	-10.9	0.00192	.	0.581426	0.17211	N	0.182701	T	0.11879	0.0289	N	0.17674	0.51	0.80722	D	1	B;B	0.09022	0.001;0.002	B;B	0.11329	0.003;0.006	T	0.42413	-0.9453	10	0.20519	T	0.43	.	1.1423	0.01768	0.3619:0.245:0.1159:0.2773	.	972;972	Q5T200;Q5T200-2	ZC3HD_HUMAN;.	D	972	ENSP00000242848:E972D;ENSP00000282007:E972D	ENSP00000242848:E972D	E	-	3	2	ZC3H13	45441764	0.000000	0.05858	0.037000	0.18230	0.297000	0.27493	-1.669000	0.01958	-2.932000	0.00300	-2.547000	0.00178	GAG	ZC3H13	-	NULL	ENSG00000123200		0.353	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	ZC3H13	HGNC	protein_coding	OTTHUMT00000044789.1	-	0.00	13	0	C	NM_015070		46543763	-1	tier1	-	no_errors	ENST00000242848	ensembl	human	known	74_37	missense	56.76	16	21	SNP	0.012	A
ZCCHC14	23174	genome.wustl.edu	37	16	87445847	87445847	+	Missense_Mutation	SNP	C	C	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr16:87445847C>T	ENST00000268616.4	-	12	2286	c.2069G>A	c.(2068-2070)aGt>aAt	p.S690N		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	690							nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		CACTGGCATACTGCTCATTGC	0.542																																																	0													50.0	60.0	57.0					16																	87445847		2198	4299	6497	SO:0001583	missense	0			AB011151	CCDS10961.1	16q24.2	2013-01-10			ENSG00000140948	ENSG00000140948		"""Zinc fingers, CCHC domain containing"", ""Sterile alpha motif (SAM) domain containing"""	24134	protein-coding gene	gene with protein product						9628581	Standard	XM_005255858		Approved	BDG29, MGC14139	uc002fjz.1	Q8WYQ9	OTTHUMG00000137655	ENST00000268616.4:c.2069G>A	16.37:g.87445847C>T	ENSP00000268616:p.Ser690Asn		D3DUN1|O60324|Q3MJD8|Q9UFP0	Missense_Mutation	SNP	pfam_SAM_type1,pfam_Znf_CCHC,superfamily_Phox,superfamily_SAM/pointed,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC	p.S690N	ENST00000268616.4	37	c.2069	CCDS10961.1	16	.	.	.	.	.	.	.	.	.	.	C	19.74	3.882967	0.72410	.	.	ENSG00000140948	ENST00000268616	T	0.24350	1.86	4.92	4.92	0.64577	.	0.066541	0.64402	D	0.000007	T	0.37156	0.0993	L	0.32530	0.975	0.34623	D	0.718801	D;D	0.60575	0.988;0.979	P;P	0.57911	0.829;0.679	T	0.50550	-0.8815	10	0.62326	D	0.03	-16.8437	18.1486	0.89667	0.0:1.0:0.0:0.0	.	690;690	Q8WYQ9-2;Q8WYQ9	.;ZCH14_HUMAN	N	690	ENSP00000268616:S690N	ENSP00000268616:S690N	S	-	2	0	ZCCHC14	86003348	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	5.728000	0.68531	2.274000	0.75844	0.467000	0.42956	AGT	ZCCHC14	-	NULL	ENSG00000140948		0.542	ZCCHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCCHC14	HGNC	protein_coding	OTTHUMT00000269107.1	-	0.00	114	0	C	NM_015144		87445847	-1	tier1	-	no_errors	ENST00000268616	ensembl	human	known	74_37	missense	26.56	47	17	SNP	1.000	T
ZEB2	9839	genome.wustl.edu	37	2	145147518	145147518	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr2:145147518G>T	ENST00000558170.2	-	10	4329	c.3145C>A	c.(3145-3147)Cac>Aac	p.H1049N	ZEB2_ENST00000539609.3_Missense_Mutation_p.H1025N|ZEB2_ENST00000303660.4_Missense_Mutation_p.H1049N|ZEB2_ENST00000409487.3_Missense_Mutation_p.H1049N	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	1049					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		TCGCCCGAGTGAAGCCTTGAG	0.473																																					Melanoma(33;1235 1264 5755 16332)												0													56.0	56.0	56.0					2																	145147518		2203	4300	6503	SO:0001583	missense	0			AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	14881	protein-coding gene	gene with protein product	"""SMAD interacting protein 1"""	605802	"""zinc finger homeobox 1b"""	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.3145C>A	2.37:g.145147518G>T	ENSP00000454157:p.His1049Asn		A0JP09|B7Z2P2|F5H814|Q9UED1	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2	p.H1049N	ENST00000558170.2	37	c.3145	CCDS2186.1	2	.	.	.	.	.	.	.	.	.	.	G	20.1	3.933806	0.73442	.	.	ENSG00000169554	ENST00000539609;ENST00000303660;ENST00000409487	T;T;T	0.67345	-0.26;-0.26;-0.26	5.61	5.61	0.85477	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.86518	0.5952	M	0.91459	3.21	0.80722	D	1	D;D;D	0.76494	0.999;0.991;0.991	D;D;D	0.87578	0.998;0.988;0.988	D	0.88657	0.3186	10	0.87932	D	0	-12.6368	20.0018	0.97417	0.0:0.0:1.0:0.0	.	1025;1048;1049	F5H814;A0JP08;O60315	.;.;ZEB2_HUMAN	N	1025;1049;1049	ENSP00000443792:H1025N;ENSP00000302501:H1049N;ENSP00000386854:H1049N	ENSP00000302501:H1049N	H	-	1	0	ZEB2	144863988	1.000000	0.71417	0.996000	0.52242	0.430000	0.31655	9.813000	0.99286	2.793000	0.96121	0.655000	0.94253	CAC	ZEB2	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000169554		0.473	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZEB2	HGNC	protein_coding	OTTHUMT00000254778.5	-	0.00	31	0	G	NM_014795		145147518	-1	tier1	-	no_errors	ENST00000303660	ensembl	human	known	74_37	missense	12.50	28	4	SNP	1.000	T
ZIC4	84107	genome.wustl.edu	37	3	147105323	147105323	+	3'UTR	DEL	T	T	-			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr3:147105323delT	ENST00000383075.3	-	0	2840				ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000425731.3_3'UTR|ZIC4-AS1_ENST00000462168.1_RNA|ZIC4_ENST00000525172.2_3'UTR	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4							nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						CACTGTTTGATTTTTTTTTTC	0.368																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF332509	CCDS43160.1, CCDS54652.1, CCDS54653.1, CCDS58857.1	3q24	2013-01-08	2003-02-21		ENSG00000174963	ENSG00000174963		"""Zinc fingers, C2H2-type"""	20393	protein-coding gene	gene with protein product		608948	"""zinc finger protein of the cerebellum 4"""				Standard	NM_001168378		Approved		uc011bno.2	Q8N9L1	OTTHUMG00000037281	ENST00000383075.3:c.*1323A>-	3.37:g.147105323delT			A0AVA2|B2RMQ8|B4DF89|B7Z2L2|C9J7D5|J3KQG1|Q4G157|Q9BZ94	RNA	DEL	-	NULL	ENST00000383075.3	37	NULL	CCDS43160.1	3																																																																																			ZIC4	-	-	ENSG00000174963		0.368	ZIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZIC4	HGNC	protein_coding	OTTHUMT00000355504.1		0.00	39	0	T			147105323	-1	tier1		no_errors	ENST00000472749	ensembl	human	known	74_37	rna	20.75	42	11	DEL	1.000	-
ZNF114	163071	genome.wustl.edu	37	19	48785720	48785720	+	Silent	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr19:48785720G>T	ENST00000595607.1	+	5	596	c.102G>T	c.(100-102)gtG>gtT	p.V34V	ZNF114_ENST00000597695.1_5'UTR|ZNF114_ENST00000600687.1_Silent_p.V34V|ZNF114_ENST00000315849.1_Silent_p.V34V			Q8NC26	ZN114_HUMAN	zinc finger protein 114	34	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(6)|lung(11)	18		all_epithelial(76;8.01e-05)|all_lung(116;0.000112)|Lung NSC(112;0.000192)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;7.56e-05)|all cancers(93;0.000113)|Epithelial(262;0.00962)|GBM - Glioblastoma multiforme(486;0.0153)		ACAGAGACGTGATGCTGGAAA	0.522																																																	0													119.0	121.0	120.0					19																	48785720		2203	4300	6503	SO:0001819	synonymous_variant	0			BC014935	CCDS12713.1, CCDS74412.1	19q13.32	2013-01-08			ENSG00000178150	ENSG00000178150		"""Zinc fingers, C2H2-type"", ""-"""	12894	protein-coding gene	gene with protein product		603996					Standard	XM_005258580		Approved	MGC17986	uc002pim.1	Q8NC26		ENST00000595607.1:c.102G>T	19.37:g.48785720G>T			A8K6B0|Q08AQ6	Silent	SNP	pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.V34	ENST00000595607.1	37	c.102	CCDS12713.1	19																																																																																			ZNF114	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000178150		0.522	ZNF114-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF114	HGNC	protein_coding	OTTHUMT00000465601.1	-	0.00	31	0	G	NM_153608		48785720	+1	tier1	-	no_errors	ENST00000315849	ensembl	human	known	74_37	silent	6.06	62	4	SNP	0.881	T
ZNF16	7564	genome.wustl.edu	37	8	146156613	146156613	+	Missense_Mutation	SNP	G	G	T	rs373394970		TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr8:146156613G>T	ENST00000276816.4	-	4	1746	c.1560C>A	c.(1558-1560)caC>caA	p.H520Q	ZNF16_ENST00000394909.2_Missense_Mutation_p.H520Q	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	520					cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to sodium dodecyl sulfate (GO:0072707)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell cycle phase transition (GO:1901989)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of kinase activity (GO:0033674)|positive regulation of megakaryocyte differentiation (GO:0045654)|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)			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		TCCCACACTCGTGGCAGGCGT	0.567																																																	0													94.0	88.0	90.0					8																	146156613		2203	4300	6503	SO:0001583	missense	0			X52340	CCDS6437.1	8q24	2013-01-08	2006-05-10		ENSG00000170631	ENSG00000170631		"""Zinc fingers, C2H2-type"""	12947	protein-coding gene	gene with protein product		601262	"""zinc finger protein 16 (KOX 9)"""				Standard	NM_006958		Approved	KOX9	uc003zeu.3	P17020	OTTHUMG00000165253	ENST00000276816.4:c.1560C>A	8.37:g.146156613G>T	ENSP00000276816:p.His520Gln		B3KXM4|D3DWP2|Q45SH7|Q96FG0|Q9NRA4	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H520Q	ENST00000276816.4	37	c.1560	CCDS6437.1	8	.	.	.	.	.	.	.	.	.	.	g	0.036	-1.305321	0.01353	.	.	ENSG00000170631	ENST00000276816;ENST00000394909	T;T	0.17528	2.27;2.27	3.59	-7.17	0.01511	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05593	0.0147	N	0.03154	-0.405	0.09310	N	1	B	0.13594	0.008	B	0.16289	0.015	T	0.38908	-0.9639	9	0.56958	D	0.05	.	3.9834	0.09504	0.512:0.2539:0.1426:0.0916	.	520	P17020	ZNF16_HUMAN	Q	520	ENSP00000276816:H520Q;ENSP00000378369:H520Q	ENSP00000276816:H520Q	H	-	3	2	ZNF16	146127417	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-6.633000	0.00059	-2.172000	0.00774	-3.052000	0.00069	CAC	ZNF16	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000170631		0.567	ZNF16-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF16	HGNC	protein_coding	OTTHUMT00000382978.1		0.00	62	0	G	NM_006958		146156613	-1			no_errors	ENST00000276816	ensembl	human	known	74_37	missense	5.13	37	2	SNP	0.000	T
ZNF230	7773	genome.wustl.edu	37	19	44515108	44515108	+	Missense_Mutation	SNP	A	A	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr19:44515108A>T	ENST00000429154.2	+	5	1145	c.917A>T	c.(916-918)aAa>aTa	p.K306I		NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	306					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)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				ACAGCAGAGAAACTGTACAAA	0.413																																					GBM(175;914 2069 22996 47111 52600)												0													143.0	139.0	141.0					19																	44515108		2203	4300	6503	SO:0001583	missense	0			U95044	CCDS33044.1	19q13.31	2013-01-08				ENSG00000159882		"""Zinc fingers, C2H2-type"", ""-"""	13024	protein-coding gene	gene with protein product							Standard	NM_006300		Approved	FDZF2	uc002oyb.1	Q9UIE0		ENST00000429154.2:c.917A>T	19.37:g.44515108A>T	ENSP00000409318:p.Lys306Ile		O15322|Q504X7|Q86W84|Q9P1U6	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.K306I	ENST00000429154.2	37	c.917	CCDS33044.1	19	.	.	.	.	.	.	.	.	.	.	A	17.50	3.405507	0.62288	.	.	ENSG00000159882	ENST00000429154	T	0.33654	1.4	2.55	1.49	0.22878	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.63426	0.2510	M	0.93720	3.45	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.62704	-0.6798	9	0.87932	D	0	.	6.4912	0.22117	0.8675:0.0:0.1325:0.0	.	306	Q9UIE0	ZN230_HUMAN	I	306	ENSP00000409318:K306I	ENSP00000409318:K306I	K	+	2	0	ZNF230	49206948	0.000000	0.05858	0.038000	0.18304	0.573000	0.36030	0.122000	0.15687	0.209000	0.20645	0.172000	0.16884	AAA	ZNF230	-	pfscan_Znf_C2H2	ENSG00000159882		0.413	ZNF230-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF230	HGNC	protein_coding	OTTHUMT00000460456.1	-	0.00	21	0	A			44515108	+1	tier1	-	no_errors	ENST00000429154	ensembl	human	known	74_37	missense	13.33	52	8	SNP	0.992	T
ZNF384	171017	genome.wustl.edu	37	12	6788181	6788181	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr12:6788181G>T	ENST00000396801.3	-	4	442	c.235C>A	c.(235-237)Cac>Aac	p.H79N	ZNF384_ENST00000319770.3_Missense_Mutation_p.H79N|ZNF384_ENST00000396795.1_Missense_Mutation_p.H79N|ZNF384_ENST00000361959.3_Missense_Mutation_p.H79N|ZNF384_ENST00000355772.4_Missense_Mutation_p.H79N|ZNF384_ENST00000396799.2_Missense_Mutation_p.H79N	NM_001135734.2	NP_001129206.1	Q8TF68	ZN384_HUMAN	zinc finger protein 384	79					nucleocytoplasmic transport (GO:0006913)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	focal adhesion (GO:0005925)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)		EWSR1/ZNF384(4)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						GCTTGGCTGTGTGGGGTCAGC	0.577			T	"""EWSR1, TAF15 """	ALL																																			Dom	yes		12	12p13	171017	zinc finger protein 384 (CIZ/NMP4)		L	0													185.0	170.0	175.0					12																	6788181		2203	4300	6503	SO:0001583	missense	0			U80738	CCDS8557.1, CCDS31732.1, CCDS44817.1	12p12	2013-01-08	2002-05-23	2002-05-24		ENSG00000126746		"""Zinc fingers, C2H2-type"""	11955	protein-coding gene	gene with protein product		609951	"""trinucleotide repeat containing 1"""	TNRC1		9225980, 11149472	Standard	NM_001135734		Approved	CAGH1A, CIZ, NMP4, NP	uc010sfh.2	Q8TF68		ENST00000396801.3:c.235C>A	12.37:g.6788181G>T	ENSP00000380019:p.His79Asn		O15407|Q7Z722|Q8N938	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H79N	ENST00000396801.3	37	c.235	CCDS44817.1	12	.	.	.	.	.	.	.	.	.	.	G	14.33	2.504116	0.44558	.	.	ENSG00000126746	ENST00000319770;ENST00000396795;ENST00000396801;ENST00000361959;ENST00000355772;ENST00000396799;ENST00000417772;ENST00000436774;ENST00000542796;ENST00000540915;ENST00000535485;ENST00000538829;ENST00000542351;ENST00000544482;ENST00000537248	T;T;T;T;T;T;T	0.09445	3.17;3.08;2.98;2.98;3.08;3.08;3.53	5.24	4.34	0.51931	.	0.460242	0.23114	N	0.051770	T	0.20740	0.0499	L	0.50333	1.59	0.47659	D	0.999483	D;P;P;P	0.58970	0.984;0.949;0.792;0.949	P;P;B;P	0.53360	0.724;0.6;0.318;0.6	T	0.01162	-1.1432	10	0.72032	D	0.01	-18.7742	15.2864	0.73831	0.0:0.0:0.8589:0.1411	.	79;79;79;79	Q8TF68;Q8TF68-3;F8W6Q3;Q8TF68-2	ZN384_HUMAN;.;.;.	N	79	ENSP00000321650:H79N;ENSP00000380013:H79N;ENSP00000380019:H79N;ENSP00000354592:H79N;ENSP00000348018:H79N;ENSP00000380017:H79N;ENSP00000412911:H79N	ENSP00000321650:H79N	H	-	1	0	ZNF384	6658442	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.437000	0.80417	1.417000	0.47077	0.561000	0.74099	CAC	ZNF384	-	NULL	ENSG00000126746		0.577	ZNF384-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF384	HGNC	protein_coding	OTTHUMT00000400712.1	-	0.00	25	0	G			6788181	-1	tier1	-	no_errors	ENST00000361959	ensembl	human	known	74_37	missense	21.43	11	3	SNP	1.000	T
ZNF385B	151126	genome.wustl.edu	37	2	180306744	180306745	+	3'UTR	INS	-	-	A			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr2:180306744_180306745insA	ENST00000410066.1	-	0	3251_3252				ZNF385B_ENST00000466398.1_5'UTR|ZNF385B_ENST00000409343.1_3'UTR|ZNF385B_ENST00000336917.5_3'UTR	NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B						intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|p53 binding (GO:0002039)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			AAGGTACATTTAAAAAAATACA	0.302																																					Colon(155;204 2491 32774 51842)												0																																										SO:0001624	3_prime_UTR_variant	0			AK057999	CCDS33339.1, CCDS46463.1, CCDS46464.1	2q31.3-q32.1	2012-10-05	2007-12-06	2007-12-06	ENSG00000144331	ENSG00000144331			26332	protein-coding gene	gene with protein product		612344	"""zinc finger protein 533"""	ZNF533		12477932	Standard	NM_152520		Approved	FLJ25270	uc002unn.4	Q569K4	OTTHUMG00000154559	ENST00000410066.1:c.*1233->T	2.37:g.180306751_180306751dupA			Q49A04|Q6ZMZ7|Q8IY01|Q8N8H2|Q96DK4	RNA	INS	-	NULL	ENST00000410066.1	37	NULL	CCDS33339.1	2																																																																																			ZNF385B	-	-	ENSG00000144331		0.302	ZNF385B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF385B	HGNC	protein_coding	OTTHUMT00000335972.1		0.00	29	0	-	NM_152520		180306745	-1	tier1		no_errors	ENST00000466398	ensembl	human	known	74_37	rna	26.03	54	19	INS	1.000:1.000	A
ZNF385D	79750	genome.wustl.edu	37	3	21467079	21467079	+	Nonsense_Mutation	SNP	C	C	A	rs140291218		TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr3:21467079C>A	ENST00000281523.2	-	6	1275	c.757G>T	c.(757-759)Gga>Tga	p.G253*		NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	253						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.G253R(1)		NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						TTAACAGGTCCTTTGCCTTTC	0.423																																																	1	Substitution - Missense(1)	skin(1)											145.0	133.0	137.0					3																	21467079		2203	4300	6503	SO:0001587	stop_gained	0			BC007212	CCDS2636.1	3p24.3	2012-10-05	2007-12-06	2007-12-06	ENSG00000151789	ENSG00000151789			26191	protein-coding gene	gene with protein product			"""zinc finger protein 659"""	ZNF659		12477932	Standard	NM_024697		Approved	FLJ22419	uc003cce.3	Q9H6B1	OTTHUMG00000130484	ENST00000281523.2:c.757G>T	3.37:g.21467079C>A	ENSP00000281523:p.Gly253*			Nonsense_Mutation	SNP	pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like	p.G253*	ENST00000281523.2	37	c.757	CCDS2636.1	3	.	.	.	.	.	.	.	.	.	.	C	43	10.360998	0.99391	.	.	ENSG00000151789	ENST00000281523	.	.	.	5.59	5.59	0.84812	.	0.134082	0.51477	D	0.000097	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	-13.3349	19.9267	0.97106	0.0:1.0:0.0:0.0	.	.	.	.	X	253	.	ENSP00000281523:G253X	G	-	1	0	ZNF385D	21442083	0.917000	0.31117	1.000000	0.80357	0.997000	0.91878	1.085000	0.30840	2.778000	0.95560	0.655000	0.94253	GGA	ZNF385D	-	NULL	ENSG00000151789		0.423	ZNF385D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF385D	HGNC	protein_coding	OTTHUMT00000252884.1		0.00	18	0	C	NM_024697		21467079	-1			no_errors	ENST00000281523	ensembl	human	known	74_37	nonsense	6.67	42	3	SNP	1.000	A
ZNF425	155054	genome.wustl.edu	37	7	148802515	148802515	+	Nonsense_Mutation	SNP	C	C	A			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr7:148802515C>A	ENST00000378061.2	-	4	580	c.448G>T	c.(448-450)Gaa>Taa	p.E150*		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	150					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			ATCTCTGTTTCTCGGAGACTT	0.453																																																	0													122.0	122.0	122.0					7																	148802515		2203	4300	6503	SO:0001587	stop_gained	0			AK056498	CCDS34773.1	7q36.1	2013-01-08			ENSG00000204947	ENSG00000204947		"""Zinc fingers, C2H2-type"", ""-"""	20690	protein-coding gene	gene with protein product							Standard	NM_001001661		Approved		uc003wfj.3	Q6IV72	OTTHUMG00000158971	ENST00000378061.2:c.448G>T	7.37:g.148802515C>A	ENSP00000367300:p.Glu150*		B3KPM1|Q08AG3	Nonsense_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,pfscan_Krueppel-associated_box-rel	p.E150*	ENST00000378061.2	37	c.448	CCDS34773.1	7	.	.	.	.	.	.	.	.	.	.	C	16.69	3.193975	0.58017	.	.	ENSG00000204947	ENST00000378061	.	.	.	2.75	1.81	0.25067	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	.	5.6211	0.17457	0.0:0.8332:0.0:0.1668	.	.	.	.	X	150	.	ENSP00000367300:E150X	E	-	1	0	ZNF425	148433448	0.576000	0.26700	0.355000	0.25773	0.213000	0.24496	1.474000	0.35398	1.364000	0.46038	0.655000	0.94253	GAA	ZNF425	-	NULL	ENSG00000204947		0.453	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF425	HGNC	protein_coding	OTTHUMT00000352726.1		0.00	22	0	C	XM_088140		148802515	-1			no_errors	ENST00000378061	ensembl	human	known	74_37	nonsense	5.13	37	2	SNP	0.251	A
ZNF486	90649	genome.wustl.edu	37	19	20296818	20296818	+	Missense_Mutation	SNP	C	C	A			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr19:20296818C>A	ENST00000335117.8	+	3	237	c.180C>A	c.(178-180)gaC>gaA	p.D60E	CTC-260E6.6_ENST00000586657.1_RNA|CTC-260E6.6_ENST00000585498.1_RNA|CTC-260E6.6_ENST00000593655.1_RNA|ZNF486_ENST00000597083.1_Missense_Mutation_p.D60E	NM_052852.3	NP_443084.2	Q96H40	ZN486_HUMAN	zinc finger protein 486	60	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						CTAAGCCAGACCTGATCACCT	0.378																																																	0													75.0	79.0	77.0					19																	20296818		2170	4290	6460	SO:0001583	missense	0			BC008936	CCDS46029.1	19p12	2014-02-13	2003-12-16	2003-12-17	ENSG00000256229	ENSG00000256229		"""Zinc fingers, C2H2-type"", ""-"""	20807	protein-coding gene	gene with protein product			"""KRAB domain only 2"""	KRBO2			Standard	NM_052852		Approved	MGC2396	uc002nou.3	Q96H40	OTTHUMG00000179731	ENST00000335117.8:c.180C>A	19.37:g.20296818C>A	ENSP00000335042:p.Asp60Glu		Q0VG00	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.D60E	ENST00000335117.8	37	c.180	CCDS46029.1	19	.	.	.	.	.	.	.	.	.	.	c	4.845	0.157134	0.09236	.	.	ENSG00000256229	ENST00000545779;ENST00000335117	T	0.00856	5.61	0.109	0.109	0.14578	Krueppel-associated box (3);	.	.	.	.	T	0.01254	0.0041	N	0.17674	0.51	0.09310	N	1	P	0.51449	0.945	P	0.53102	0.718	T	0.55592	-0.8117	8	0.46703	T	0.11	.	.	.	.	.	60	Q96H40	ZN486_HUMAN	E	99;60	ENSP00000335042:D60E	ENSP00000335042:D60E	D	+	3	2	ZNF486	20157818	0.659000	0.27411	0.091000	0.20842	0.092000	0.18411	-0.569000	0.05902	0.181000	0.19994	0.184000	0.17185	GAC	ZNF486	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000256229		0.378	ZNF486-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF486	HGNC	protein_coding	OTTHUMT00000447843.2	-	0.00	54	0	C	NM_052852		20296818	+1	tier1	-	no_errors	ENST00000335117	ensembl	human	known	74_37	missense	7.55	49	4	SNP	0.103	A
ZNF646	9726	genome.wustl.edu	37	16	31090991	31090991	+	Nonsense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr16:31090991G>T	ENST00000394979.2	+	1	3769	c.3346G>T	c.(3346-3348)Gag>Tag	p.E1116*	ZNF646_ENST00000300850.5_Nonsense_Mutation_p.E1116*			O15015	ZN646_HUMAN	zinc finger protein 646	1116					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)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						GCCCATCCCAGAGGCAGCAGG	0.637																																																	0													53.0	60.0	58.0					16																	31090991		2197	4300	6497	SO:0001587	stop_gained	0			AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"""Zinc fingers, C2H2-type"""	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.3346G>T	16.37:g.31090991G>T	ENSP00000378429:p.Glu1116*		Q8IVD8	Nonsense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E1116*	ENST00000394979.2	37	c.3346		16	.	.	.	.	.	.	.	.	.	.	G	44	10.560943	0.99428	.	.	ENSG00000167395	ENST00000300850;ENST00000394979	.	.	.	5.75	3.66	0.41972	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	-2.5753	14.9665	0.71198	0.0:0.2708:0.7292:0.0	.	.	.	.	X	1116	.	ENSP00000300850:E1116X	E	+	1	0	ZNF646	30998492	0.000000	0.05858	0.921000	0.36526	0.212000	0.24457	-0.378000	0.07446	1.403000	0.46800	0.563000	0.77884	GAG	ZNF646	-	NULL	ENSG00000167395		0.637	ZNF646-003	KNOWN	basic	protein_coding	ZNF646	HGNC	protein_coding	OTTHUMT00000108510.2	-	0.00	68	0	G	NM_014699		31090991	+1	tier1	-	no_errors	ENST00000300850	ensembl	human	known	74_37	nonsense	12.50	28	4	SNP	0.300	T
ZNF680	340252	genome.wustl.edu	37	7	64004109	64004109	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr7:64004109G>T	ENST00000309683.6	-	3	380	c.229C>A	c.(229-231)Cag>Aag	p.Q77K	ZNF680_ENST00000476563.1_5'UTR|ZNF680_ENST00000447137.2_Missense_Mutation_p.Q77K	NM_178558.4	NP_848653.2	Q8NEM1	ZN680_HUMAN	zinc finger protein 680	77	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	27		Lung NSC(55;0.118)|all_lung(88;0.243)				ACCATCTCCTGTCTCTTCCTA	0.418																																																	0													144.0	135.0	138.0					7																	64004109		2203	4300	6503	SO:0001583	missense	0			AK074911	CCDS34644.1, CCDS47594.1	7q11.21	2013-01-08			ENSG00000173041	ENSG00000173041		"""Zinc fingers, C2H2-type"", ""-"""	26897	protein-coding gene	gene with protein product	"""hypothetical protein FLJ90430"""					12477932	Standard	NM_178558		Approved	FLJ90430	uc003tta.2	Q8NEM1	OTTHUMG00000156542	ENST00000309683.6:c.229C>A	7.37:g.64004109G>T	ENSP00000309330:p.Gln77Lys		B3KVJ4|Q6ZNF3|Q8NC79	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.Q77K	ENST00000309683.6	37	c.229	CCDS34644.1	7	.	.	.	.	.	.	.	.	.	.	N	0.944	-0.708444	0.03230	.	.	ENSG00000173041	ENST00000309683;ENST00000447137	T;T	0.04551	3.6;5.78	0.458	-0.916	0.10489	Krueppel-associated box (1);	.	.	.	.	T	0.01454	0.0047	N	0.02181	-0.65	0.09310	N	1	P;B	0.40875	0.731;0.0	B;B	0.32762	0.152;0.0	T	0.43442	-0.9391	8	0.42905	T	0.14	.	.	.	.	.	77;77	Q6ZNF3;Q8NEM1	.;ZN680_HUMAN	K	77	ENSP00000309330:Q77K;ENSP00000393506:Q77K	ENSP00000309330:Q77K	Q	-	1	0	ZNF680	63641544	0.898000	0.30612	0.009000	0.14445	0.009000	0.06853	0.035000	0.13797	-0.494000	0.06669	-0.494000	0.04653	CAG	ZNF680	-	pfscan_Krueppel-associated_box	ENSG00000173041		0.418	ZNF680-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF680	HGNC	protein_coding	OTTHUMT00000344568.1	-	0.00	30	0	G	NM_178558		64004109	-1	tier1	-	no_errors	ENST00000309683	ensembl	human	known	74_37	missense	43.56	56	44	SNP	0.011	T
ZNF721	170960	genome.wustl.edu	37	4	466424	466424	+	Intron	SNP	C	C	A			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr4:466424C>A	ENST00000338977.5	-	1	47				ZNF721_ENST00000507078.1_5'UTR|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000506646.1_Missense_Mutation_p.A24S|ZNF721_ENST00000511833.2_5'UTR			Q8TF20	ZN721_HUMAN	zinc finger protein 721						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(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						TTCTGCTGGGCAGGGTCCAGG	0.423																																																	0													75.0	82.0	80.0					4																	466424		2203	4297	6500	SO:0001627	intron_variant	0			AK092362	CCDS46991.1	4p16.3	2013-01-08			ENSG00000182903	ENSG00000182903		"""Zinc fingers, C2H2-type"", ""-"""	29425	protein-coding gene	gene with protein product						11853319	Standard	NM_133474		Approved	KIAA1982	uc003gag.4	Q8TF20		ENST00000338977.5:c.1+26420G>T	4.37:g.466424C>A			Q69YG7	Missense_Mutation	SNP	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	p.A24S	ENST00000338977.5	37	c.70		4	.	.	.	.	.	.	.	.	.	.	C	10.90	1.480951	0.26598	.	.	ENSG00000182903	ENST00000506646;ENST00000505900	T;T	0.02258	4.37;4.37	1.79	1.79	0.24919	.	.	.	.	.	T	0.02929	0.0087	.	.	.	0.28649	N	0.906731	P	0.44776	0.843	B	0.42462	0.388	T	0.40098	-0.9581	8	0.62326	D	0.03	.	9.1436	0.36919	0.0:1.0:0.0:0.0	.	24	B4E159	.	S	24	ENSP00000423586:A24S;ENSP00000421325:A24S	ENSP00000421325:A24S	A	-	1	0	ZNF721	456424	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-0.001000	0.12947	0.998000	0.38996	0.603000	0.83216	GCC	ZNF721	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000182903		0.423	ZNF721-001	KNOWN	basic|appris_candidate	protein_coding	ZNF721	HGNC	protein_coding	OTTHUMT00000357939.1		0.00	32	0	C	NM_133474		466424	-1			no_errors	ENST00000515578	ensembl	human	known	74_37	missense	5.23	145	8	SNP	0.007	A
ZNF733P	643955	genome.wustl.edu	37	7	62752115	62752115	+	RNA	SNP	T	T	G			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr7:62752115T>G	ENST00000331425.6	-	0	1320					NR_003952.1				zinc finger protein 733, pseudogene																		TCAGTGAGGGTTGAGGATAAG	0.438																																																	0																																												0					7q11.21	2012-04-20	2012-04-20	2012-04-20	ENSG00000185037	ENSG00000185037			32473	pseudogene	pseudogene			"""zinc finger protein 733"""	ZNF733			Standard	NR_003952		Approved		uc011kdj.2		OTTHUMG00000156270		7.37:g.62752115T>G				RNA	SNP	-	NULL	ENST00000331425.6	37	NULL		7																																																																																			ZNF733P	-	-	ENSG00000185037		0.438	ZNF733P-002	KNOWN	basic	processed_transcript	ZNF733P	HGNC	pseudogene	OTTHUMT00000343679.1	-	0.00	35	0	T			62752115	-1	tier1	-	no_errors	ENST00000331425	ensembl	human	known	74_37	rna	23.61	55	17	SNP	0.000	G
ZNF765	91661	genome.wustl.edu	37	19	53911118	53911118	+	Missense_Mutation	SNP	G	G	A			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr19:53911118G>A	ENST00000396408.3	+	4	427	c.310G>A	c.(310-312)Gat>Aat	p.D104N	ZNF765_ENST00000594030.1_Intron	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	104					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		GTGGCAAGAAGATGAAAGAAA	0.363																																																	0													82.0	84.0	83.0					19																	53911118		2198	4297	6495	SO:0001583	missense	0			BC017357	CCDS46171.1	19q13.41	2013-01-08				ENSG00000196417		"""Zinc fingers, C2H2-type"", ""-"""	25092	protein-coding gene	gene with protein product						12477932	Standard	XR_430215		Approved		uc002qbm.3	Q7L2R6		ENST00000396408.3:c.310G>A	19.37:g.53911118G>A	ENSP00000379689:p.Asp104Asn		A8MYG0|B4DF18|B7ZAI5|B9EIL1|Q9BV49	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.D104N	ENST00000396408.3	37	c.310	CCDS46171.1	19	.	.	.	.	.	.	.	.	.	.	G	13.19	2.161885	0.38217	.	.	ENSG00000196417	ENST00000396408;ENST00000505866	T;T	0.07567	3.18;3.93	0.998	0.998	0.19857	.	.	.	.	.	T	0.08223	0.0205	L	0.43923	1.385	0.09310	N	1	B	0.21309	0.054	B	0.29524	0.103	T	0.40079	-0.9582	8	.	.	.	.	7.387	0.26888	0.0:0.0:1.0:0.0	.	104	Q7L2R6	ZN765_HUMAN	N	104;51	ENSP00000379689:D104N;ENSP00000421579:D51N	.	D	+	1	0	ZNF765	58602930	0.000000	0.05858	0.048000	0.18961	0.283000	0.27025	0.061000	0.14366	0.446000	0.26666	0.174000	0.16983	GAT	ZNF765	-	NULL	ENSG00000196417		0.363	ZNF765-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF765	HGNC	protein_coding	OTTHUMT00000371603.1	-	0.00	39	0	G	NM_138372		53911118	+1	tier1	-	no_errors	ENST00000396408	ensembl	human	known	74_37	missense	16.36	92	18	SNP	0.097	A
ZNF804A	91752	genome.wustl.edu	37	2	185801785	185801785	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr2:185801785G>T	ENST00000302277.6	+	4	2256	c.1662G>T	c.(1660-1662)aaG>aaT	p.K554N		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	554							metal ion binding (GO:0046872)	p.K554N(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TTTCCTGTAAGATCAGAGAAA	0.338																																																	1	Substitution - Missense(1)	lung(1)											34.0	38.0	37.0					2																	185801785		2167	4286	6453	SO:0001583	missense	0			AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.1662G>T	2.37:g.185801785G>T	ENSP00000303252:p.Lys554Asn		A7E253|Q6ZN26	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz	p.K554N	ENST00000302277.6	37	c.1662	CCDS2291.1	2	.	.	.	.	.	.	.	.	.	.	G	2.998	-0.206730	0.06180	.	.	ENSG00000170396	ENST00000302277	T	0.05717	3.4	4.97	-3.01	0.05463	.	0.557786	0.16987	N	0.191458	T	0.02649	0.0080	N	0.08118	0	0.09310	N	1	B	0.23937	0.094	B	0.18871	0.023	T	0.38243	-0.9670	10	0.42905	T	0.14	-3.791	6.8267	0.23887	0.5835:0.0:0.2937:0.1228	.	554	Q7Z570	Z804A_HUMAN	N	554	ENSP00000303252:K554N	ENSP00000303252:K554N	K	+	3	2	ZNF804A	185510030	0.015000	0.18098	0.002000	0.10522	0.006000	0.05464	-0.098000	0.11024	-0.491000	0.06697	-0.145000	0.13849	AAG	ZNF804A	-	NULL	ENSG00000170396		0.338	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF804A	HGNC	protein_coding	OTTHUMT00000255871.1		0.00	12	0	G	NM_194250		185801785	+1			no_errors	ENST00000302277	ensembl	human	known	74_37	missense	6.98	40	3	SNP	0.000	T
