#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_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_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
ABCB1	5243	genome.wustl.edu	37	7	87133510	87133510	+	3'UTR	SNP	A	A	T			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr7:87133510A>T	ENST00000265724.3	-	0	4309				ABCB1_ENST00000488737.2_5'UTR	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1						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)			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)	AATAAATGTCATATCTAAACA	0.343																																																	0													27.0	28.0	28.0					7																	87133510		2203	4300	6503	SO:0001624	3_prime_UTR_variant	5243			M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.*49T>A	7.37:g.87133510A>T			A8K294|B5AK60|Q12755|Q14812	RNA	SNP	-	NULL	ENST00000265724.3	37	NULL	CCDS5608.1	7																																																																																			ABCB1	-	-		0.343	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB1	HGNC	protein_coding	OTTHUMT00000335444.2	A	NM_000927		87133510	-1	no_errors	ENST00000488737	ensembl	human	known	70_37	rna	SNP	0.005	T
ABCB1	5243	genome.wustl.edu	37	7	87133510	87133510	+	3'UTR	SNP	A	A	T			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr7:87133510A>T	ENST00000265724.3	-	0	4309				ABCB1_ENST00000488737.2_5'UTR	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1						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)			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)	AATAAATGTCATATCTAAACA	0.343																																																	0													27.0	28.0	28.0					7																	87133510		2203	4300	6503	SO:0001624	3_prime_UTR_variant	5243			M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.*49T>A	7.37:g.87133510A>T			A8K294|B5AK60|Q12755|Q14812	RNA	SNP	-	NULL	ENST00000265724.3	37	NULL	CCDS5608.1	7																																																																																			ABCB1	-	-		0.343	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB1	HGNC	protein_coding	OTTHUMT00000335444.2	A	NM_000927		87133510	-1	no_errors	ENST00000488737	ensembl	human	known	70_37	rna	SNP	0.005	T
ABI2	10152	genome.wustl.edu	37	2	204292029	204292029	+	Missense_Mutation	SNP	T	T	G			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr2:204292029T>G	ENST00000422511.2	+	11	1428	c.1397T>G	c.(1396-1398)cTt>cGt	p.L466R	ABI2_ENST00000430418.1_Missense_Mutation_p.L444R|ABI2_ENST00000424558.1_Missense_Mutation_p.L493R|ABI2_ENST00000261016.6_Missense_Mutation_p.L387R|ABI2_ENST00000261018.7_Missense_Mutation_p.L285R|RAPH1_ENST00000457812.1_Intron|ABI2_ENST00000295851.5_Missense_Mutation_p.L499R|ABI2_ENST00000261017.5_Missense_Mutation_p.L461R			Q9NYB9	ABI2_HUMAN	abl-interactor 2	499	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin polymerization or depolymerization (GO:0008154)|cell migration (GO:0016477)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|Rac protein signal transduction (GO:0016601)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|SCAR complex (GO:0031209)	cytoskeletal adaptor activity (GO:0008093)|DNA binding (GO:0003677)|kinase binding (GO:0019900)|proline-rich region binding (GO:0070064)|protein complex binding (GO:0032403)|SH3 domain binding (GO:0017124)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|kidney(3)|large_intestine(1)|liver(2)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	15						GTGACTGGGCTTTTTCCTGGG	0.438																																																	0													212.0	172.0	186.0					2																	204292029		2203	4300	6503	SO:0001583	missense	10152			AF260261	CCDS2358.1, CCDS63093.1, CCDS63094.1, CCDS74634.1	2q33	2010-09-20	2009-07-23		ENSG00000138443	ENSG00000138443			24011	protein-coding gene	gene with protein product		606442				7590236, 10964520	Standard	XM_005246217		Approved	ABI-2, AIP-1, ABI2B, AblBP3, argBPIA, SSH3BP2	uc002uzz.3	Q9NYB9	OTTHUMG00000132879	ENST00000422511.2:c.1397T>G	2.37:g.204292029T>G	ENSP00000396249:p.Leu466Arg		B4DSN1|Q13147|Q13249|Q13801|Q9BV70	Missense_Mutation	SNP	pfam_Abl-interactor_HHR_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,pfscan_T_SNARE_dom,prints_SH3_domain,prints_p67phox	p.L499R	ENST00000422511.2	37	c.1496		2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.68|19.68	3.871968|3.871968	0.72180|0.72180	.|.	.|.	ENSG00000138443|ENSG00000138443	ENST00000454023|ENST00000295851;ENST00000261017;ENST00000430418;ENST00000424558;ENST00000261016;ENST00000422511;ENST00000261018	.|T;T;T;T;T;T;T	.|0.34472	.|1.36;1.36;1.36;1.36;1.36;1.36;1.36	6.03|6.03	6.03|6.03	0.97812|0.97812	.|Src homology-3 domain (5);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.68284|0.68284	0.2984|0.2984	M|M	0.90483|0.90483	3.12|3.12	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;0.997;0.994;0.997;0.999;0.985;0.997;0.999	.|D;D;D;D;D;D;P;D;D	.|0.97110	.|1.0;0.998;0.993;0.989;0.994;0.998;0.884;0.996;0.987	T|T	0.75513|0.75513	-0.3291|-0.3291	5|10	.|0.87932	.|D	.|0	-12.5939|-12.5939	16.5582|16.5582	0.84512|0.84512	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|312;363;224;376;493;444;387;499;461	.|B7Z5L1;B7Z612;B4DMM5;B7Z836;Q9NYB9-4;E9PEZ7;Q9NYB9-3;Q9NYB9;Q9NYB9-2	.|.;.;.;.;.;.;.;ABI2_HUMAN;.	V|R	279|499;461;444;493;387;466;285	.|ENSP00000295851:L499R;ENSP00000261017:L461R;ENSP00000408898:L444R;ENSP00000391433:L493R;ENSP00000261016:L387R;ENSP00000396249:L466R;ENSP00000261018:L285R	.|ENSP00000261016:L387R	F|L	+|+	1|2	0|0	ABI2|ABI2	204000274|204000274	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.358000|0.358000	0.29455|0.29455	7.991000|7.991000	0.88244|0.88244	2.308000|2.308000	0.77769|0.77769	0.533000|0.533000	0.62120|0.62120	TTT|CTT	ABI2	-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox		0.438	ABI2-007	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	ABI2	HGNC	protein_coding	OTTHUMT00000336179.2	T	NM_005759		204292029	+1	no_errors	ENST00000295851	ensembl	human	known	70_37	missense	SNP	1.000	G
ABLIM2	84448	genome.wustl.edu	37	4	8108346	8108346	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr4:8108346G>T	ENST00000341937.5	-	2	93	c.29C>A	c.(28-30)gCt>gAt	p.A10D	ABLIM2_ENST00000545242.1_Missense_Mutation_p.A10D|ABLIM2_ENST00000296372.8_Missense_Mutation_p.A10D|ABLIM2_ENST00000447017.2_Missense_Mutation_p.A10D|ABLIM2_ENST00000505872.1_Missense_Mutation_p.A10D|ABLIM2_ENST00000546334.1_Missense_Mutation_p.A10D|ABLIM2_ENST00000428004.2_Missense_Mutation_p.A10D|ABLIM2_ENST00000318888.4_5'UTR|ABLIM2_ENST00000407564.3_Missense_Mutation_p.A10D|ABLIM2_ENST00000361581.5_Missense_Mutation_p.A10D|ABLIM2_ENST00000361737.5_Missense_Mutation_p.A10D	NM_001130084.1	NP_001123556.1	Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	10					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|myofibril (GO:0030016)	zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						CGGGCTGGGAGCAGCCTGGGG	0.607																																																	0													30.0	34.0	33.0					4																	8108346		2131	4244	6375	SO:0001583	missense	84448			AB058711	CCDS47011.1, CCDS47012.1, CCDS47013.1, CCDS47014.1, CCDS47015.1, CCDS47016.1, CCDS54719.1, CCDS68669.1	4p16.1	2012-05-16			ENSG00000163995	ENSG00000163995			19195	protein-coding gene	gene with protein product		612544	"""actin binding LIM protein 2"""				Standard	NM_001130083		Approved	KIAA1808	uc003gkj.4	Q6H8Q1	OTTHUMG00000057427	ENST00000341937.5:c.29C>A	4.37:g.8108346G>T	ENSP00000342813:p.Ala10Asp		E9PF39|Q08E71|Q19VH0|Q6H8Q0|Q6NX73|Q8N3C5|Q8N9E9|Q8N9G2|Q96JL7	Missense_Mutation	SNP	pfam_Znf_LIM,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Znf_LIM,smart_Villin_headpiece,pfscan_Villin_headpiece,pfscan_Znf_LIM	p.A10D	ENST00000341937.5	37	c.29	CCDS47013.1	4	.	.	.	.	.	.	.	.	.	.	G	9.388	1.074647	0.20227	.	.	ENSG00000163995	ENST00000361737;ENST00000400045;ENST00000296372;ENST00000545242;ENST00000546334;ENST00000447017;ENST00000341937;ENST00000361581;ENST00000407564;ENST00000505872;ENST00000428004	T;T;T;T;T;T;T;T;T;T	0.33216	1.57;1.85;1.77;1.57;1.77;1.84;1.77;1.51;1.58;1.42	4.68	1.94	0.25998	.	0.150127	0.43110	D	0.000603	T	0.33089	0.0851	L	0.44542	1.39	0.09310	N	0.999998	D;D;B;B;D;B;D;B	0.63046	0.971;0.971;0.303;0.228;0.992;0.161;0.985;0.303	P;P;B;B;P;B;P;B	0.59221	0.513;0.854;0.32;0.322;0.707;0.12;0.728;0.171	T	0.16276	-1.0408	10	0.12430	T	0.62	.	7.1164	0.25418	0.4546:0.0:0.5454:0.0	.	15;10;10;10;10;10;10;10	B7Z6W4;Q6H8Q1-6;Q08E71;Q6H8Q1-2;Q6H8Q1-3;Q6H8Q1;Q19VH0;E9PF39	.;.;.;.;.;ABLM2_HUMAN;.;.	D	10	ENSP00000354887:A10D;ENSP00000296372:A10D;ENSP00000441255:A10D;ENSP00000444365:A10D;ENSP00000393511:A10D;ENSP00000342813:A10D;ENSP00000355003:A10D;ENSP00000384658:A10D;ENSP00000421283:A10D;ENSP00000389410:A10D	ENSP00000296372:A10D	A	-	2	0	ABLIM2	8159246	0.000000	0.05858	0.008000	0.14137	0.524000	0.34500	0.224000	0.17738	0.513000	0.28278	0.462000	0.41574	GCT	ABLIM2	-	NULL		0.607	ABLIM2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABLIM2	HGNC	protein_coding	OTTHUMT00000358862.2	G	NM_001130083		8108346	-1	no_errors	ENST00000447017	ensembl	human	known	70_37	missense	SNP	0.000	T
AGAP1	116987	genome.wustl.edu	37	2	236416021	236416021	+	Intron	SNP	C	C	A			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr2:236416021C>A	ENST00000304032.8	+	1	743				AGAP1-IT1_ENST00000440498.1_RNA|AGAP1_ENST00000336665.5_Intron|AGAP1_ENST00000409457.1_Intron	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1						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						GAGTCGGGGGCGTCCCGCTGG	0.587																																																	0																																										SO:0001627	intron_variant	100506749			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.163+12528C>A	2.37:g.236416021C>A			B2RTX7|Q541S5|Q6P9D7|Q9NV93	RNA	SNP	-	NULL	ENST00000304032.8	37	NULL	CCDS33408.1	2																																																																																			AGAP1-IT1	-	-		0.587	AGAP1-001	KNOWN	basic|CCDS	protein_coding	AGAP1-IT1	HGNC	protein_coding	OTTHUMT00000257076.2	C	NM_014914		236416021	+1	no_errors	ENST00000440498	ensembl	human	known	70_37	rna	SNP	0.000	A
AGPAT2	10555	genome.wustl.edu	37	9	139571111	139571111	+	Nonsense_Mutation	SNP	C	C	A			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr9:139571111C>A	ENST00000371696.2	-	4	579	c.514G>T	c.(514-516)Gag>Tag	p.E172*	AGPAT2_ENST00000538402.1_Nonsense_Mutation_p.E172*|AGPAT2_ENST00000371694.3_Intron	NM_006412.3	NP_006403.2	O15120	PLCB_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 2	172					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|epidermis development (GO:0008544)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|positive regulation of cytokine production (GO:0001819)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			endometrium(1)|large_intestine(1)|lung(2)|prostate(2)	6	all_cancers(76;0.0893)|all_epithelial(76;0.231)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)		CGAGTACCCTCGGGATAGATC	0.627																																																	0			GRCh37	CM031119	AGPAT2	M							112.0	93.0	99.0					9																	139571111		2203	4300	6503	SO:0001587	stop_gained	10555			AF000237	CCDS7003.1, CCDS35181.1	9q34.3	2013-02-05	2013-02-05		ENSG00000169692	ENSG00000169692	2.3.1.51	"""1-acylglycerol-3-phosphate O-acyltransferases"""	325	protein-coding gene	gene with protein product	"""LPAAT-beta"", ""lysophosphatidic acid acyltransferase, beta"""	603100	"""Berardinelli-Seip congenital lipodystrophy"", ""1-acylglycerol-3-phosphate O-acyltransferase 2 (lysophosphatidic acid acyltransferase, beta)"""	BSCL		9242711, 9212163	Standard	NM_006412		Approved		uc004cii.1	O15120	OTTHUMG00000020936	ENST00000371696.2:c.514G>T	9.37:g.139571111C>A	ENSP00000360761:p.Glu172*		O00516|O15106|Q5VUD3|Q5VUD4|Q9BSV7|Q9BWR7	Nonsense_Mutation	SNP	pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase,tigrfam_AGP_acyltrans	p.E172*	ENST00000371696.2	37	c.514	CCDS7003.1	9	.	.	.	.	.	.	.	.	.	.	C	37	6.472985	0.97594	.	.	ENSG00000169692	ENST00000371696;ENST00000538402	.	.	.	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-8.2895	16.8323	0.85947	0.0:1.0:0.0:0.0	.	.	.	.	X	172	.	ENSP00000360761:E172X	E	-	1	0	AGPAT2	138690932	0.999000	0.42202	0.993000	0.49108	0.963000	0.63663	5.113000	0.64640	2.211000	0.71520	0.655000	0.94253	GAG	AGPAT2	-	pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase,tigrfam_AGP_acyltrans		0.627	AGPAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGPAT2	HGNC	protein_coding	OTTHUMT00000055090.1	C	NM_006412		139571111	-1	no_errors	ENST00000371696	ensembl	human	known	70_37	nonsense	SNP	1.000	A
AIRE	326	genome.wustl.edu	37	21	45714338	45714338	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr21:45714338G>T	ENST00000291582.5	+	12	1582	c.1455G>T	c.(1453-1455)gaG>gaT	p.E485D	AIRE_ENST00000329347.4_3'UTR|AIRE_ENST00000355347.4_Missense_Mutation_p.E278D	NM_000383.3	NP_000374.1	O43918	AIRE_HUMAN	autoimmune regulator	485					humoral immune response (GO:0006959)|immune response (GO:0006955)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|transcription regulatory region DNA binding (GO:0044212)|translation regulator activity (GO:0045182)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14				Colorectal(79;0.0806)		CCCCTGTGGAGGGGGTGCTGG	0.741									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy																																								0													4.0	5.0	5.0					21																	45714338		1954	3927	5881	SO:0001583	missense	326	Familial Cancer Database	APECED	AB006684	CCDS13706.1	21q22.3	2014-09-17	2007-06-20		ENSG00000160224	ENSG00000160224		"""Zinc fingers, PHD-type"""	360	protein-coding gene	gene with protein product	"""autoimmune polyendocrinopathy candidiasis ectodermal dystrophy"""	607358	"""autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy)"""	APECED		9398840	Standard	NM_000383		Approved	PGA1, APS1	uc002zei.3	O43918	OTTHUMG00000086921	ENST00000291582.5:c.1455G>T	21.37:g.45714338G>T	ENSP00000291582:p.Glu485Asp		B2RP50|O43922|O43932|O75745	Missense_Mutation	SNP	pfam_Sp100,pfam_Znf_PHD-finger,pfam_SAND_dom,superfamily_Znf_FYVE_PHD,superfamily_SAND_dom-like,smart_SAND_dom,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_SAND_dom,prints_AIRE	p.E485D	ENST00000291582.5	37	c.1455	CCDS13706.1	21	.	.	.	.	.	.	.	.	.	.	G	2.734	-0.263679	0.05754	.	.	ENSG00000160224	ENST00000291582;ENST00000337909;ENST00000397994;ENST00000355347	T;T	0.72615	-0.67;-0.67	3.5	1.51	0.23008	.	1.237280	0.05940	N	0.636907	T	0.60830	0.2299	L	0.50333	1.59	0.20638	N	0.999876	B;B	0.10296	0.003;0.0	B;B	0.06405	0.002;0.001	T	0.35599	-0.9782	10	0.13470	T	0.59	-21.0106	5.6597	0.17662	0.1219:0.1995:0.6785:0.0	.	288;485	B2RP50;O43918	.;AIRE_HUMAN	D	485;288;288;278	ENSP00000291582:E485D;ENSP00000347505:E278D	ENSP00000291582:E485D	E	+	3	2	AIRE	44538766	0.994000	0.37717	0.005000	0.12908	0.005000	0.04900	1.042000	0.30303	0.203000	0.20529	0.643000	0.83706	GAG	AIRE	-	NULL		0.741	AIRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AIRE	HGNC	protein_coding	OTTHUMT00000195842.2	G			45714338	+1	no_errors	ENST00000291582	ensembl	human	known	70_37	missense	SNP	0.034	T
AKAP2	11217	genome.wustl.edu	37	9	112811046	112811046	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr9:112811046C>T	ENST00000374525.1	+	1	71	c.67C>T	c.(67-69)Cct>Tct	p.P23S	AKAP2_ENST00000434623.2_Missense_Mutation_p.P23S|PALM2-AKAP2_ENST00000374530.3_Intron|PALM2-AKAP2_ENST00000302798.7_Intron|AKAP2_ENST00000555236.1_Intron|AKAP2_ENST00000510514.5_Intron	NM_001004065.4	NP_001004065.2	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	377										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						CCCGGAGTCTCCTGGACCCCC	0.766																																																	0													2.0	2.0	2.0					9																	112811046		1265	3045	4310	SO:0001583	missense	11217			AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"""A-kinase anchor proteins"""	372	protein-coding gene	gene with protein product	"""protein kinase A2"""	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000374525.1:c.67C>T	9.37:g.112811046C>T	ENSP00000363649:p.Pro23Ser		B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Missense_Mutation	SNP	pfam_RII_binding_1	p.P23S	ENST00000374525.1	37	c.67	CCDS43861.1	9	.	.	.	.	.	.	.	.	.	.	-	2.785	-0.252640	0.05829	.	.	ENSG00000241978	ENST00000434623;ENST00000374525	T;T	0.43688	1.53;0.94	.	.	.	.	.	.	.	.	T	0.35038	0.0918	.	.	.	0.09310	N	0.999995	.	.	.	.	.	.	T	0.32508	-0.9904	4	0.46703	T	0.11	-1.8079	.	.	.	.	23;24	Q9Y2D5-7;B1ALY1	.;.	S	23	ENSP00000404782:P23S;ENSP00000363649:P23S	ENSP00000363649:P23S	P	+	1	0	AKAP2	111850867	0.140000	0.22579	0.023000	0.16930	0.027000	0.11550	0.000000	0.12993	0.000000	0.14550	0.000000	0.15137	CCT	AKAP2	-	NULL		0.766	AKAP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	AKAP2	HGNC	protein_coding	OTTHUMT00000053609.3	C	NM_001004065		112811046	+1	no_errors	ENST00000374525	ensembl	human	known	70_37	missense	SNP	0.016	T
ARF4	378	genome.wustl.edu	37	3	57582435	57582435	+	Intron	SNP	G	G	C			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr3:57582435G>C	ENST00000303436.6	-	1	335				ARF4_ENST00000489843.1_Intron|RP11-755B10.4_ENST00000607782.1_RNA|ARF4_ENST00000493378.1_Intron|RP11-755B10.4_ENST00000607297.1_RNA|RP11-755B10.4_ENST00000606192.1_RNA|ARF4_ENST00000496292.1_Intron	NM_001660.3	NP_001651.1	P18085	ARF4_HUMAN	ADP-ribosylation factor 4						activation of phospholipase D activity (GO:0031584)|brain development (GO:0007420)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein transport (GO:0015031)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to axon injury (GO:0048678)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|ruffle membrane (GO:0032587)	epidermal growth factor receptor binding (GO:0005154)|GTP binding (GO:0005525)			large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0449)|Kidney(284;0.0561)		TCCACACCCGGGCAAGAAGGT	0.562																																																	0																																										SO:0001627	intron_variant	378			M36341	CCDS2884.1	3p21.2-p21.1	2007-03-19			ENSG00000168374	ENSG00000168374		"""ADP-ribosylation factors"""	655	protein-coding gene	gene with protein product		601177	"""ADP-ribosylation factor 2"""	ARF2		2107548	Standard	NM_001660		Approved		uc003dix.4	P18085	OTTHUMG00000158601	ENST00000303436.6:c.67+365C>G	3.37:g.57582435G>C			B2R7J7|P21371	RNA	SNP	-	NULL	ENST00000303436.6	37	NULL	CCDS2884.1	3																																																																																			ARF4	-	-		0.562	ARF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARF4	HGNC	protein_coding	OTTHUMT00000351443.1	G	NM_001660		57582435	-1	no_errors	ENST00000495354	ensembl	human	putative	70_37	rna	SNP	0.001	C
ATP10B	23120	genome.wustl.edu	37	5	160071195	160071195	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr5:160071195C>A	ENST00000327245.5	-	9	1664	c.818G>T	c.(817-819)gGc>gTc	p.G273V		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	273					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GATGGTGCAGCCTCGAAGCAG	0.498																																																	0													120.0	123.0	122.0					5																	160071195		2013	4187	6200	SO:0001583	missense	23120			AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.818G>T	5.37:g.160071195C>A	ENSP00000313600:p.Gly273Val		Q9H725	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.G273V	ENST00000327245.5	37	c.818	CCDS43394.1	5	.	.	.	.	.	.	.	.	.	.	C	25.8	4.671496	0.88348	.	.	ENSG00000118322	ENST00000327245	D	0.94758	-3.51	4.9	4.9	0.64082	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.98664	0.9552	H	0.99545	4.62	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;0.996;0.997;1.0	D	0.99751	1.1018	9	.	.	.	.	17.0785	0.86592	0.0:1.0:0.0:0.0	.	317;273;245;273	B4DHG1;O94823-2;O94823-3;O94823	.;.;.;AT10B_HUMAN	V	273	ENSP00000313600:G273V	.	G	-	2	0	ATP10B	160003773	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.203000	0.77864	2.256000	0.74724	0.563000	0.77884	GGC	ATP10B	-	pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Plipid-transl		0.498	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10B	HGNC	protein_coding	OTTHUMT00000374127.1	C	NM_025153		160071195	-1	no_errors	ENST00000327245	ensembl	human	known	70_37	missense	SNP	1.000	A
ATP10B	23120	genome.wustl.edu	37	5	160071195	160071195	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr5:160071195C>A	ENST00000327245.5	-	9	1664	c.818G>T	c.(817-819)gGc>gTc	p.G273V		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	273					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GATGGTGCAGCCTCGAAGCAG	0.498																																																	0													120.0	123.0	122.0					5																	160071195		2013	4187	6200	SO:0001583	missense	23120			AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.818G>T	5.37:g.160071195C>A	ENSP00000313600:p.Gly273Val		Q9H725	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.G273V	ENST00000327245.5	37	c.818	CCDS43394.1	5	.	.	.	.	.	.	.	.	.	.	C	25.8	4.671496	0.88348	.	.	ENSG00000118322	ENST00000327245	D	0.94758	-3.51	4.9	4.9	0.64082	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.98664	0.9552	H	0.99545	4.62	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;0.996;0.997;1.0	D	0.99751	1.1018	9	.	.	.	.	17.0785	0.86592	0.0:1.0:0.0:0.0	.	317;273;245;273	B4DHG1;O94823-2;O94823-3;O94823	.;.;.;AT10B_HUMAN	V	273	ENSP00000313600:G273V	.	G	-	2	0	ATP10B	160003773	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.203000	0.77864	2.256000	0.74724	0.563000	0.77884	GGC	ATP10B	-	pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Plipid-transl		0.498	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10B	HGNC	protein_coding	OTTHUMT00000374127.1	C	NM_025153		160071195	-1	no_errors	ENST00000327245	ensembl	human	known	70_37	missense	SNP	1.000	A
ATP6V1F	9296	genome.wustl.edu	37	7	128505196	128505196	+	Intron	SNP	A	A	T			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr7:128505196A>T	ENST00000249289.4	+	2	237				RP11-309L24.2_ENST00000469965.1_RNA|RP11-309L24.4_ENST00000461420.1_lincRNA|ATP6V1F_ENST00000492758.1_Missense_Mutation_p.S61C	NM_004231.3	NP_004222.2	Q16864	VATF_HUMAN	ATPase, H+ transporting, lysosomal 14kDa, V1 subunit F						ATP catabolic process (GO:0006200)|ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	ATPase activity, uncoupled (GO:0042624)|hydrogen ion transmembrane transporter activity (GO:0015078)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			lung(1)|ovary(1)|prostate(1)	3						CCTTCCGGGCAGTGTTGTAGA	0.488																																																	0																																										SO:0001627	intron_variant	9296			D49400	CCDS5807.1, CCDS56511.1	7q32.1	2010-04-21	2002-08-29		ENSG00000128524	ENSG00000128524	3.6.3.14	"""ATPases / V-type"""	16832	protein-coding gene	gene with protein product		607160				8581736, 8621738	Standard	NM_004231		Approved	ATP6S14, VATF, Vma7	uc022all.1	Q16864	OTTHUMG00000158365	ENST00000249289.4:c.159-235A>T	7.37:g.128505196A>T			C9J2K4|Q6IBA8	Missense_Mutation	SNP	pfam_ATPase_V1/A1-cplx_fsu,pirsf_ATPase_V1-cplx_fsu_euk,tigrfam_ATPase_V1-cplx_fsu_euk	p.S61C	ENST00000249289.4	37	c.181	CCDS5807.1	7	.	.	.	.	.	.	.	.	.	.	a	9.857	1.195215	0.22037	.	.	ENSG00000128524	ENST00000492758	T	0.47869	0.83	3.32	0.91	0.19337	.	.	.	.	.	T	0.22975	0.0555	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.17684	-1.0361	7	0.30854	T	0.27	.	3.6663	0.08257	0.6523:0.2263:0.1214:0.0	.	.	.	.	C	61	ENSP00000417378:S61C	ENSP00000417378:S61C	S	+	1	0	ATP6V1F	128292432	0.015000	0.18098	0.001000	0.08648	0.003000	0.03518	0.371000	0.20450	0.188000	0.20168	-0.345000	0.07892	AGT	ATP6V1F	-	pirsf_ATPase_V1-cplx_fsu_euk		0.488	ATP6V1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6V1F	HGNC	protein_coding	OTTHUMT00000350800.1	A	NM_004231		128505196	+1	no_errors	ENST00000492758	ensembl	human	novel	70_37	missense	SNP	0.001	T
ATRIP	84126	genome.wustl.edu	37	3	48506424	48506424	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr3:48506424G>T	ENST00000320211.3	+	12	2363	c.2250G>T	c.(2248-2250)caG>caT	p.Q750H	TREX1_ENST00000422277.2_5'Flank|TREX1_ENST00000456089.1_5'Flank|ATRIP_ENST00000346691.4_Missense_Mutation_p.Q723H|TREX1_ENST00000296443.9_5'Flank|TREX1_ENST00000433541.1_5'Flank|ATRIP_ENST00000357105.6_Missense_Mutation_p.Q623H|ATRIP_ENST00000412052.1_Missense_Mutation_p.Q657H|TREX1_ENST00000436480.2_5'Flank|SHISA5_ENST00000465449.1_5'Flank|TREX1_ENST00000444177.1_5'Flank	NM_130384.2	NP_569055.1	Q8WXE1	ATRIP_HUMAN	ATR interacting protein	750					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)	microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGTTTGACCAGGTGATGCCGG	0.612								Other conserved DNA damage response genes																																									0													124.0	117.0	119.0					3																	48506424		2203	4300	6503	SO:0001583	missense	84126			AF451323	CCDS2767.1, CCDS2768.1, CCDS59449.1, CCDS59450.1	3p24.3-p22.1	2007-06-20			ENSG00000164053	ENSG00000164053			33499	protein-coding gene	gene with protein product		606605				11721054	Standard	NM_130384		Approved	FLJ12343, MGC20625, MGC21482, MGC26740	uc003ctf.2	Q8WXE1	OTTHUMG00000133532	ENST00000320211.3:c.2250G>T	3.37:g.48506424G>T	ENSP00000323099:p.Gln750His		A8K6A3|A8K714|B2RCE7|B4DU92|B5MEB7|Q69YK9|Q8NHQ2|Q8WUG7|Q96CL3|Q9HA30	Missense_Mutation	SNP	NULL	p.Q750H	ENST00000320211.3	37	c.2250	CCDS2768.1	3	.	.	.	.	.	.	.	.	.	.	G	17.96	3.516394	0.64634	.	.	ENSG00000164053	ENST00000320211;ENST00000346691;ENST00000357105;ENST00000412052	T;T;T;T	0.51071	1.29;1.34;0.72;1.29	5.51	3.72	0.42706	.	0.000000	0.85682	D	0.000000	T	0.64394	0.2594	M	0.72894	2.215	0.53005	D	0.999961	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.997	T	0.63808	-0.6553	10	0.54805	T	0.06	-14.6507	10.1015	0.42509	0.153:0.0:0.847:0.0	.	723;750	Q8WXE1-2;Q8WXE1	.;ATRIP_HUMAN	H	750;723;623;657	ENSP00000323099:Q750H;ENSP00000302338:Q723H;ENSP00000349620:Q623H;ENSP00000400930:Q657H	ENSP00000323099:Q750H	Q	+	3	2	ATRIP	48481428	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.370000	0.34238	0.693000	0.31634	0.655000	0.94253	CAG	ATRIP	-	NULL		0.612	ATRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATRIP	HGNC	protein_coding	OTTHUMT00000257507.2	G	NM_130384		48506424	+1	no_errors	ENST00000320211	ensembl	human	known	70_37	missense	SNP	1.000	T
BDH1	622	genome.wustl.edu	37	3	197281579	197281579	+	5'UTR	SNP	G	G	A			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr3:197281579G>A	ENST00000392379.1	-	0	212				BDH1_ENST00000476764.1_5'UTR|BDH1_ENST00000441275.1_5'UTR|BDH1_ENST00000392378.2_Intron|BDH1_ENST00000358186.2_Intron	NM_203314.2	NP_976059.1	Q02338	BDH_HUMAN	3-hydroxybutyrate dehydrogenase, type 1						adipose tissue development (GO:0060612)|brain development (GO:0007420)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|ketone body biosynthetic process (GO:0046951)|ketone body catabolic process (GO:0046952)|liver development (GO:0001889)|response to cadmium ion (GO:0046686)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to growth hormone (GO:0060416)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3-hydroxybutyrate dehydrogenase activity (GO:0003858)|phospholipid binding (GO:0005543)			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)		TTTCCAGGCTGACTGGCTGGA	0.577											OREG0016018	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001623	5_prime_UTR_variant	622			M93107	CCDS3328.1	3q29	2011-09-14	2005-11-15	2005-11-15	ENSG00000161267	ENSG00000161267	1.1.1.30	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	1027	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 9C, member 1"""	603063	"""3-hydroxybutyrate dehydrogenase (heart, mitochondrial)"""	BDH		1639787, 19027726	Standard	XM_005269352		Approved	SDR9C1	uc003fxs.3	Q02338	OTTHUMG00000155478	ENST00000392379.1:c.-190C>T	3.37:g.197281579G>A		2090	D3DXC0|Q96ET1|Q9BRZ4	RNA	SNP	-	NULL	ENST00000392379.1	37	NULL	CCDS3328.1	3																																																																																			BDH1	-	-		0.577	BDH1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	BDH1	HGNC	protein_coding		G	NM_004051		197281579	-1	no_errors	ENST00000476764	ensembl	human	putative	70_37	rna	SNP	0.151	A
BTBD9	114781	genome.wustl.edu	37	6	38560593	38560593	+	Silent	SNP	T	T	C			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr6:38560593T>C	ENST00000481247.1	-	4	724	c.573A>G	c.(571-573)ttA>ttG	p.L191L	BTBD9_ENST00000419706.2_Silent_p.L132L|BTBD9_ENST00000403056.1_Silent_p.L191L|BTBD9_ENST00000314100.6_Silent_p.L123L|BTBD9_ENST00000408958.1_Silent_p.L123L	NM_001099272.1|NM_052893.1	NP_001092742.1|NP_443125.1	Q96Q07	BTBD9_HUMAN	BTB (POZ) domain containing 9	191	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						ATGAGTCTCTTAACACGATGT	0.373																																																	0													81.0	74.0	76.0					6																	38560593		1849	4091	5940	SO:0001819	synonymous_variant	114781				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.573A>G	6.37:g.38560593T>C			Q494V9|Q494W1|Q96M00	Silent	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.L191	ENST00000481247.1	37	c.573	CCDS47418.1	6																																																																																			BTBD9	-	pfam_BACK,smart_BACK		0.373	BTBD9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	BTBD9	HGNC	protein_coding	OTTHUMT00000040433.2	T	NM_152733		38560593	-1	no_errors	ENST00000403056	ensembl	human	known	70_37	silent	SNP	0.970	C
BTBD9	114781	genome.wustl.edu	37	6	38560593	38560593	+	Silent	SNP	T	T	C			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr6:38560593T>C	ENST00000481247.1	-	4	724	c.573A>G	c.(571-573)ttA>ttG	p.L191L	BTBD9_ENST00000419706.2_Silent_p.L132L|BTBD9_ENST00000403056.1_Silent_p.L191L|BTBD9_ENST00000314100.6_Silent_p.L123L|BTBD9_ENST00000408958.1_Silent_p.L123L	NM_001099272.1|NM_052893.1	NP_001092742.1|NP_443125.1	Q96Q07	BTBD9_HUMAN	BTB (POZ) domain containing 9	191	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						ATGAGTCTCTTAACACGATGT	0.373																																																	0													81.0	74.0	76.0					6																	38560593		1849	4091	5940	SO:0001819	synonymous_variant	114781				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.573A>G	6.37:g.38560593T>C			Q494V9|Q494W1|Q96M00	Silent	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.L191	ENST00000481247.1	37	c.573	CCDS47418.1	6																																																																																			BTBD9	-	pfam_BACK,smart_BACK		0.373	BTBD9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	BTBD9	HGNC	protein_coding	OTTHUMT00000040433.2	T	NM_152733		38560593	-1	no_errors	ENST00000403056	ensembl	human	known	70_37	silent	SNP	0.970	C
TRPV2	51393	genome.wustl.edu	37	17	16342647	16342647	+	IGR	SNP	A	A	G	rs148434726		TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr17:16342647A>G	ENST00000338560.7	+	0	2808				C17orf76-AS1_ENST00000483140.1_RNA|C17orf76-AS1_ENST00000470491.2_RNA|C17orf76-AS1_ENST00000365172.1_RNA|C17orf76-AS1_ENST00000391079.1_RNA|C17orf76-AS1_ENST00000460249.1_RNA|C17orf76-AS1_ENST00000584177.1_RNA|C17orf76-AS1_ENST00000477249.2_RNA|C17orf76-AS1_ENST00000492250.1_RNA|C17orf76-AS1_ENST00000481898.1_RNA|C17orf76-AS1_ENST00000475947.2_RNA|C17orf76-AS1_ENST00000582911.1_RNA|C17orf76-AS1_ENST00000581718.1_RNA|C17orf76-AS1_ENST00000384229.1_RNA|C17orf76-AS1_ENST00000584926.1_RNA|C17orf76-AS1_ENST00000472367.1_RNA|C17orf76-AS1_ENST00000581913.1_RNA|C17orf76-AS1_ENST00000481027.1_RNA|C17orf76-AS1_ENST00000478103.2_RNA|C17orf76-AS1_ENST00000487066.1_RNA|C17orf76-AS1_ENST00000480811.1_RNA|C17orf76-AS1_ENST00000484836.1_RNA|RP11-138I1.3_ENST00000585048.1_lincRNA|C17orf76-AS1_ENST00000580180.1_RNA|C17orf76-AS1_ENST00000475953.1_RNA|C17orf76-AS1_ENST00000580770.1_RNA|C17orf76-AS1_ENST00000579473.1_RNA|C17orf76-AS1_ENST00000584141.1_RNA|C17orf76-AS1_ENST00000578380.2_RNA|C17orf76-AS1_ENST00000491009.1_RNA|C17orf76-AS1_ENST00000583400.2_RNA	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2						calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|positive regulation of axon extension (GO:0045773)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|response to temperature stimulus (GO:0009266)|sensory perception (GO:0007600)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|growth cone membrane (GO:0032584)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|ion channel activity (GO:0005216)|ion transmembrane transporter activity (GO:0015075)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		GTAGGGCCACATCTGCCAGAG	0.667																																																	0								A		1,4403	2.1+/-5.4	0,1,2201	34.0	45.0	41.0			-7.3	0.0	17	dbSNP_134	41	0,8598		0,0,4299	no	intergenic				0,1,6500	GG,GA,AA		0.0,0.0227,0.0077			16342647	1,13001	2202	4299	6501	SO:0001628	intergenic_variant	125144			AF129112	CCDS32576.1	17p11.2	2013-01-10			ENSG00000187688	ENSG00000187688		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18082	protein-coding gene	gene with protein product		606676				10201375, 16382100	Standard	NM_016113		Approved	VRL, VRL-1, VRL1	uc002gpy.3	Q9Y5S1	OTTHUMG00000058989		17.37:g.16342647A>G			A6NML2|A8K0Z0|Q9Y670	RNA	SNP	-	NULL	ENST00000338560.7	37	NULL	CCDS32576.1	17																																																																																			C17orf76-AS1	-	-		0.667	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf76-AS1	HGNC	protein_coding	OTTHUMT00000130464.2	A	NM_016113		16342647	+1	no_errors	ENST00000460249	ensembl	human	known	70_37	rna	SNP	0.000	G
TRPV2	51393	genome.wustl.edu	37	17	16342647	16342647	+	IGR	SNP	A	A	G	rs148434726		TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr17:16342647A>G	ENST00000338560.7	+	0	2808				C17orf76-AS1_ENST00000483140.1_RNA|C17orf76-AS1_ENST00000470491.2_RNA|C17orf76-AS1_ENST00000365172.1_RNA|C17orf76-AS1_ENST00000391079.1_RNA|C17orf76-AS1_ENST00000460249.1_RNA|C17orf76-AS1_ENST00000584177.1_RNA|C17orf76-AS1_ENST00000477249.2_RNA|C17orf76-AS1_ENST00000492250.1_RNA|C17orf76-AS1_ENST00000481898.1_RNA|C17orf76-AS1_ENST00000475947.2_RNA|C17orf76-AS1_ENST00000582911.1_RNA|C17orf76-AS1_ENST00000581718.1_RNA|C17orf76-AS1_ENST00000384229.1_RNA|C17orf76-AS1_ENST00000584926.1_RNA|C17orf76-AS1_ENST00000472367.1_RNA|C17orf76-AS1_ENST00000581913.1_RNA|C17orf76-AS1_ENST00000481027.1_RNA|C17orf76-AS1_ENST00000478103.2_RNA|C17orf76-AS1_ENST00000487066.1_RNA|C17orf76-AS1_ENST00000480811.1_RNA|C17orf76-AS1_ENST00000484836.1_RNA|RP11-138I1.3_ENST00000585048.1_lincRNA|C17orf76-AS1_ENST00000580180.1_RNA|C17orf76-AS1_ENST00000475953.1_RNA|C17orf76-AS1_ENST00000580770.1_RNA|C17orf76-AS1_ENST00000579473.1_RNA|C17orf76-AS1_ENST00000584141.1_RNA|C17orf76-AS1_ENST00000578380.2_RNA|C17orf76-AS1_ENST00000491009.1_RNA|C17orf76-AS1_ENST00000583400.2_RNA	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2						calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|positive regulation of axon extension (GO:0045773)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|response to temperature stimulus (GO:0009266)|sensory perception (GO:0007600)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|growth cone membrane (GO:0032584)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|ion channel activity (GO:0005216)|ion transmembrane transporter activity (GO:0015075)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		GTAGGGCCACATCTGCCAGAG	0.667																																																	0								A		1,4403	2.1+/-5.4	0,1,2201	34.0	45.0	41.0			-7.3	0.0	17	dbSNP_134	41	0,8598		0,0,4299	no	intergenic				0,1,6500	GG,GA,AA		0.0,0.0227,0.0077			16342647	1,13001	2202	4299	6501	SO:0001628	intergenic_variant	125144			AF129112	CCDS32576.1	17p11.2	2013-01-10			ENSG00000187688	ENSG00000187688		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18082	protein-coding gene	gene with protein product		606676				10201375, 16382100	Standard	NM_016113		Approved	VRL, VRL-1, VRL1	uc002gpy.3	Q9Y5S1	OTTHUMG00000058989		17.37:g.16342647A>G			A6NML2|A8K0Z0|Q9Y670	RNA	SNP	-	NULL	ENST00000338560.7	37	NULL	CCDS32576.1	17																																																																																			C17orf76-AS1	-	-		0.667	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf76-AS1	HGNC	protein_coding	OTTHUMT00000130464.2	A	NM_016113		16342647	+1	no_errors	ENST00000460249	ensembl	human	known	70_37	rna	SNP	0.000	G
C17orf62	79415	genome.wustl.edu	37	17	80402346	80402346	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr17:80402346C>G	ENST00000437807.2	-	7	737	c.420G>C	c.(418-420)caG>caC	p.Q140H	C17orf62_ENST00000577732.1_Missense_Mutation_p.Q140H|C17orf62_ENST00000583359.1_5'Flank|C17orf62_ENST00000578913.1_Missense_Mutation_p.Q140H|C17orf62_ENST00000583617.1_Missense_Mutation_p.Q140H|C17orf62_ENST00000585080.1_Missense_Mutation_p.Q140H|C17orf62_ENST00000342572.8_Missense_Mutation_p.Q16H|C17orf62_ENST00000336995.7_5'UTR|C17orf62_ENST00000306645.5_Missense_Mutation_p.Q140H|C17orf62_ENST00000434650.2_Missense_Mutation_p.Q126H|C17orf62_ENST00000585064.1_Missense_Mutation_p.Q140H|C17orf62_ENST00000577436.1_Missense_Mutation_p.Q126H|C17orf62_ENST00000578919.1_Missense_Mutation_p.Q140H	NM_001193653.1|NM_001193657.1	NP_001180582.1|NP_001180586.1	Q9BQA9	CQ062_HUMAN	chromosome 17 open reading frame 62	140						integral component of membrane (GO:0016021)				breast(2)|large_intestine(2)|skin(2)|urinary_tract(2)	8	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			TGACTGCACTCTGCGTGAGGG	0.622																																																	0													112.0	89.0	97.0					17																	80402346		2203	4300	6503	SO:0001583	missense	79415			AK074950	CCDS32776.1, CCDS45817.1	17q25.3	2014-06-09			ENSG00000178927	ENSG00000178927			28672	protein-coding gene	gene with protein product							Standard	NM_001100407		Approved	MGC4368, FLJ90469	uc021ufr.1	Q9BQA9		ENST00000437807.2:c.420G>C	17.37:g.80402346C>G	ENSP00000388909:p.Gln140His		E1B6X3|Q96NR1	Missense_Mutation	SNP	NULL	p.Q140H	ENST00000437807.2	37	c.420	CCDS32776.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.54|18.54	3.646873|3.646873	0.67358|0.67358	.|.	.|.	ENSG00000178927|ENSG00000178927	ENST00000437807;ENST00000306645;ENST00000434650|ENST00000342572	.|.	.|.	.|.	4.84|4.84	3.85|3.85	0.44370|0.44370	.|.	.|.	.|.	.|.	.|.	T|T	0.72342|0.72342	0.3448|0.3448	M|M	0.69823|0.69823	2.125|2.125	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.997;0.999|.	D;D|.	0.85130|.	0.995;0.997|.	T|T	0.76302|0.76302	-0.3009|-0.3009	8|6	0.72032|0.87932	D|D	0.01|0	.|.	12.5615|12.5615	0.56283|0.56283	0.0:0.9173:0.0:0.0827|0.0:0.9173:0.0:0.0827	.|.	126;140|.	E1B6X3;Q9BQA9|.	.;CQ062_HUMAN|.	H|T	140;140;126|30	.|.	ENSP00000307765:Q140H|ENSP00000342228:R30T	Q|R	-|-	3|2	2|0	C17orf62|C17orf62	77995635|77995635	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.694000|0.694000	0.40290|0.40290	2.792000|2.792000	0.47837|0.47837	2.229000|2.229000	0.72834|0.72834	0.561000|0.561000	0.74099|0.74099	CAG|AGA	C17orf62	-	NULL		0.622	C17orf62-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C17orf62	HGNC	protein_coding	OTTHUMT00000443260.1	C	NM_001033046		80402346	-1	no_errors	ENST00000306645	ensembl	human	known	70_37	missense	SNP	1.000	G
C17orf62	79415	genome.wustl.edu	37	17	80402346	80402346	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr17:80402346C>G	ENST00000437807.2	-	7	737	c.420G>C	c.(418-420)caG>caC	p.Q140H	C17orf62_ENST00000577732.1_Missense_Mutation_p.Q140H|C17orf62_ENST00000583359.1_5'Flank|C17orf62_ENST00000578913.1_Missense_Mutation_p.Q140H|C17orf62_ENST00000583617.1_Missense_Mutation_p.Q140H|C17orf62_ENST00000585080.1_Missense_Mutation_p.Q140H|C17orf62_ENST00000342572.8_Missense_Mutation_p.Q16H|C17orf62_ENST00000336995.7_5'UTR|C17orf62_ENST00000306645.5_Missense_Mutation_p.Q140H|C17orf62_ENST00000434650.2_Missense_Mutation_p.Q126H|C17orf62_ENST00000585064.1_Missense_Mutation_p.Q140H|C17orf62_ENST00000577436.1_Missense_Mutation_p.Q126H|C17orf62_ENST00000578919.1_Missense_Mutation_p.Q140H	NM_001193653.1|NM_001193657.1	NP_001180582.1|NP_001180586.1	Q9BQA9	CQ062_HUMAN	chromosome 17 open reading frame 62	140						integral component of membrane (GO:0016021)				breast(2)|large_intestine(2)|skin(2)|urinary_tract(2)	8	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			TGACTGCACTCTGCGTGAGGG	0.622																																																	0													112.0	89.0	97.0					17																	80402346		2203	4300	6503	SO:0001583	missense	79415			AK074950	CCDS32776.1, CCDS45817.1	17q25.3	2014-06-09			ENSG00000178927	ENSG00000178927			28672	protein-coding gene	gene with protein product							Standard	NM_001100407		Approved	MGC4368, FLJ90469	uc021ufr.1	Q9BQA9		ENST00000437807.2:c.420G>C	17.37:g.80402346C>G	ENSP00000388909:p.Gln140His		E1B6X3|Q96NR1	Missense_Mutation	SNP	NULL	p.Q140H	ENST00000437807.2	37	c.420	CCDS32776.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.54|18.54	3.646873|3.646873	0.67358|0.67358	.|.	.|.	ENSG00000178927|ENSG00000178927	ENST00000437807;ENST00000306645;ENST00000434650|ENST00000342572	.|.	.|.	.|.	4.84|4.84	3.85|3.85	0.44370|0.44370	.|.	.|.	.|.	.|.	.|.	T|T	0.72342|0.72342	0.3448|0.3448	M|M	0.69823|0.69823	2.125|2.125	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.997;0.999|.	D;D|.	0.85130|.	0.995;0.997|.	T|T	0.76302|0.76302	-0.3009|-0.3009	8|6	0.72032|0.87932	D|D	0.01|0	.|.	12.5615|12.5615	0.56283|0.56283	0.0:0.9173:0.0:0.0827|0.0:0.9173:0.0:0.0827	.|.	126;140|.	E1B6X3;Q9BQA9|.	.;CQ062_HUMAN|.	H|T	140;140;126|30	.|.	ENSP00000307765:Q140H|ENSP00000342228:R30T	Q|R	-|-	3|2	2|0	C17orf62|C17orf62	77995635|77995635	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.694000|0.694000	0.40290|0.40290	2.792000|2.792000	0.47837|0.47837	2.229000|2.229000	0.72834|0.72834	0.561000|0.561000	0.74099|0.74099	CAG|AGA	C17orf62	-	NULL		0.622	C17orf62-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C17orf62	HGNC	protein_coding	OTTHUMT00000443260.1	C	NM_001033046		80402346	-1	no_errors	ENST00000306645	ensembl	human	known	70_37	missense	SNP	1.000	G
C1QL4	338761	genome.wustl.edu	37	12	49729936	49729936	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr12:49729936G>A	ENST00000334221.3	-	1	1035	c.325C>T	c.(325-327)Cgc>Tgc	p.R109C		NM_001008223.1	NP_001008224.1	Q86Z23	C1QL4_HUMAN	complement component 1, q subcomponent-like 4	109	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.					collagen trimer (GO:0005581)|extracellular region (GO:0005576)				large_intestine(2)|lung(1)|ovary(1)|skin(1)	5						AAAGCAATGCGAGGCACGTAG	0.731																																																	0													11.0	12.0	12.0					12																	49729936		2177	4262	6439	SO:0001583	missense	338761				CCDS31793.1	12q13.12	2012-04-12				ENSG00000186897			31416	protein-coding gene	gene with protein product		615229					Standard	NM_001008223		Approved	C1QTNF11, CTRP11	uc001rtz.1	Q86Z23	OTTHUMG00000169515	ENST00000334221.3:c.325C>T	12.37:g.49729936G>A	ENSP00000335285:p.Arg109Cys			Missense_Mutation	SNP	pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q	p.R109C	ENST00000334221.3	37	c.325	CCDS31793.1	12	.	.	.	.	.	.	.	.	.	.	G	15.50	2.851387	0.51270	.	.	ENSG00000186897	ENST00000334221	T	0.25579	1.79	5.16	4.26	0.50523	Tumour necrosis factor-like (2);Complement C1q protein (2);	0.574792	0.15493	N	0.259472	T	0.55768	0.1941	M	0.91717	3.235	0.48975	D	0.999733	D	0.89917	1.0	D	0.63488	0.915	T	0.62464	-0.6849	10	0.72032	D	0.01	.	11.481	0.50326	0.0:0.0:0.5517:0.4483	.	109	Q86Z23	C1QL4_HUMAN	C	109	ENSP00000335285:R109C	ENSP00000335285:R109C	R	-	1	0	C1QL4	48016203	0.997000	0.39634	0.905000	0.35620	0.013000	0.08279	2.247000	0.43151	1.164000	0.42652	-0.181000	0.13052	CGC	C1QL4	-	superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q		0.731	C1QL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1QL4	HGNC	protein_coding	OTTHUMT00000404561.1	G	NM_001008223		49729936	-1	no_errors	ENST00000334221	ensembl	human	known	70_37	missense	SNP	0.995	A
C1QL4	338761	genome.wustl.edu	37	12	49729936	49729936	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr12:49729936G>A	ENST00000334221.3	-	1	1035	c.325C>T	c.(325-327)Cgc>Tgc	p.R109C		NM_001008223.1	NP_001008224.1	Q86Z23	C1QL4_HUMAN	complement component 1, q subcomponent-like 4	109	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.					collagen trimer (GO:0005581)|extracellular region (GO:0005576)				large_intestine(2)|lung(1)|ovary(1)|skin(1)	5						AAAGCAATGCGAGGCACGTAG	0.731																																																	0													11.0	12.0	12.0					12																	49729936		2177	4262	6439	SO:0001583	missense	338761				CCDS31793.1	12q13.12	2012-04-12				ENSG00000186897			31416	protein-coding gene	gene with protein product		615229					Standard	NM_001008223		Approved	C1QTNF11, CTRP11	uc001rtz.1	Q86Z23	OTTHUMG00000169515	ENST00000334221.3:c.325C>T	12.37:g.49729936G>A	ENSP00000335285:p.Arg109Cys			Missense_Mutation	SNP	pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q	p.R109C	ENST00000334221.3	37	c.325	CCDS31793.1	12	.	.	.	.	.	.	.	.	.	.	G	15.50	2.851387	0.51270	.	.	ENSG00000186897	ENST00000334221	T	0.25579	1.79	5.16	4.26	0.50523	Tumour necrosis factor-like (2);Complement C1q protein (2);	0.574792	0.15493	N	0.259472	T	0.55768	0.1941	M	0.91717	3.235	0.48975	D	0.999733	D	0.89917	1.0	D	0.63488	0.915	T	0.62464	-0.6849	10	0.72032	D	0.01	.	11.481	0.50326	0.0:0.0:0.5517:0.4483	.	109	Q86Z23	C1QL4_HUMAN	C	109	ENSP00000335285:R109C	ENSP00000335285:R109C	R	-	1	0	C1QL4	48016203	0.997000	0.39634	0.905000	0.35620	0.013000	0.08279	2.247000	0.43151	1.164000	0.42652	-0.181000	0.13052	CGC	C1QL4	-	superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q		0.731	C1QL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1QL4	HGNC	protein_coding	OTTHUMT00000404561.1	G	NM_001008223		49729936	-1	no_errors	ENST00000334221	ensembl	human	known	70_37	missense	SNP	0.995	A
CUL9	23113	genome.wustl.edu	37	6	43193806	43193806	+	IGR	SNP	C	C	T			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr6:43193806C>T	ENST00000252050.4	+	0	7780				DNPH1_ENST00000230431.6_Missense_Mutation_p.R114Q|DNPH1_ENST00000393987.2_Missense_Mutation_p.R114Q|RP3-330M21.5_ENST00000500590.1_RNA	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9						microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						GCACAGGATCCGCTTGTTAAA	0.632																																																	0													38.0	32.0	34.0					6																	43193806		2203	4300	6503	SO:0001628	intergenic_variant	10591			AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723		6.37:g.43193806C>T			O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP	pfam_Nucleoside_deoxyribTrfase	p.R114Q	ENST00000252050.4	37	c.341	CCDS4890.1	6	.	.	.	.	.	.	.	.	.	.	C	8.341	0.828743	0.16749	.	.	ENSG00000112667	ENST00000230431;ENST00000509253;ENST00000393987	.	.	.	4.73	-2.31	0.06765	.	0.782162	0.11030	N	0.607312	T	0.06872	0.0175	N	0.21448	0.665	0.09310	N	0.999998	B;B	0.30236	0.274;0.147	B;B	0.17979	0.015;0.02	T	0.24799	-1.0150	9	0.27785	T	0.31	-4.6407	9.426	0.38581	0.0:0.2029:0.6232:0.1739	.	114;114	O43598-2;O43598	.;RCL_HUMAN	Q	114;183;114	.	ENSP00000230431:R114Q	R	-	2	0	C6orf108	43301784	0.000000	0.05858	0.000000	0.03702	0.266000	0.26442	-1.181000	0.03085	-0.772000	0.04602	0.462000	0.41574	CGG	C6orf108	-	pfam_Nucleoside_deoxyribTrfase		0.632	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6orf108	HGNC	protein_coding	OTTHUMT00000040582.2	C	NM_015089		43193806	-1	no_errors	ENST00000230431	ensembl	human	known	70_37	missense	SNP	0.007	T
CUL9	23113	genome.wustl.edu	37	6	43193806	43193806	+	IGR	SNP	C	C	T			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr6:43193806C>T	ENST00000252050.4	+	0	7780				DNPH1_ENST00000230431.6_Missense_Mutation_p.R114Q|DNPH1_ENST00000393987.2_Missense_Mutation_p.R114Q|RP3-330M21.5_ENST00000500590.1_RNA	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9						microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						GCACAGGATCCGCTTGTTAAA	0.632																																																	0													38.0	32.0	34.0					6																	43193806		2203	4300	6503	SO:0001628	intergenic_variant	10591			AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723		6.37:g.43193806C>T			O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP	pfam_Nucleoside_deoxyribTrfase	p.R114Q	ENST00000252050.4	37	c.341	CCDS4890.1	6	.	.	.	.	.	.	.	.	.	.	C	8.341	0.828743	0.16749	.	.	ENSG00000112667	ENST00000230431;ENST00000509253;ENST00000393987	.	.	.	4.73	-2.31	0.06765	.	0.782162	0.11030	N	0.607312	T	0.06872	0.0175	N	0.21448	0.665	0.09310	N	0.999998	B;B	0.30236	0.274;0.147	B;B	0.17979	0.015;0.02	T	0.24799	-1.0150	9	0.27785	T	0.31	-4.6407	9.426	0.38581	0.0:0.2029:0.6232:0.1739	.	114;114	O43598-2;O43598	.;RCL_HUMAN	Q	114;183;114	.	ENSP00000230431:R114Q	R	-	2	0	C6orf108	43301784	0.000000	0.05858	0.000000	0.03702	0.266000	0.26442	-1.181000	0.03085	-0.772000	0.04602	0.462000	0.41574	CGG	C6orf108	-	pfam_Nucleoside_deoxyribTrfase		0.632	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6orf108	HGNC	protein_coding	OTTHUMT00000040582.2	C	NM_015089		43193806	-1	no_errors	ENST00000230431	ensembl	human	known	70_37	missense	SNP	0.007	T
CAD	790	genome.wustl.edu	37	2	27465560	27465560	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr2:27465560G>A	ENST00000403525.1	+	40	6250	c.6106G>A	c.(6106-6108)Gtc>Atc	p.V2036I	CAD_ENST00000264705.4_Missense_Mutation_p.V2099I			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCAGTATCGTGTCAGCCTGCG	0.642																																																	0													91.0	82.0	85.0					2																	27465560		2203	4300	6503	SO:0001583	missense	790			D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.6106G>A	2.37:g.27465560G>A	ENSP00000384510:p.Val2036Ile		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_Asp/Orn_carbamoyltranf_P-bd,pfam_GATASE_1,pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_CarbamoylP_synth_lsu_oligo,pfam_CarbamoylP_synth_lsu_N,pfam_ATP-grasp_carboxylate-amine,pfam_MGS-like_dom,pfam_Dala_Dala_lig_C,pfam_Amidohydro_1,superfamily_Asp/Orn_carbamoylTrfase,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_fold,superfamily_MGS-like_dom,superfamily_Metal-dep_hydrolase_composite,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,prints_Asp_carbamoyltransf,prints_Asp/Orn_carbamoylTrfase,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu,tigrfam_Asp_carbamoyltransf	p.V2099I	ENST00000403525.1	37	c.6295		2	.	.	.	.	.	.	.	.	.	.	G	18.74	3.689129	0.68271	.	.	ENSG00000084774	ENST00000264705;ENST00000403525	D;D	0.98987	-5.3;-5.3	5.21	5.21	0.72293	Aspartate/ornithine carbamoyltransferase, Asp/Orn-binding domain (1);	0.059799	0.64402	D	0.000003	D	0.97278	0.9110	N	0.26130	0.795	0.49582	D	0.999801	B;B	0.27286	0.174;0.004	B;B	0.34138	0.176;0.019	D	0.96144	0.9102	10	0.46703	T	0.11	-12.6249	17.3212	0.87236	0.0:0.0:1.0:0.0	.	2036;2099	F8VPD4;P27708	.;PYR1_HUMAN	I	2099;2036	ENSP00000264705:V2099I;ENSP00000384510:V2036I	ENSP00000264705:V2099I	V	+	1	0	CAD	27319064	1.000000	0.71417	0.997000	0.53966	0.965000	0.64279	5.903000	0.69877	2.429000	0.82318	0.462000	0.41574	GTC	CAD	-	pfam_Asp_carbamoyltransf_Asp/Orn-bd,superfamily_Asp/Orn_carbamoylTrfase,tigrfam_Asp_carbamoyltransf		0.642	CAD-002	NOVEL	basic|exp_conf	protein_coding	CAD	HGNC	protein_coding	OTTHUMT00000324970.1	G			27465560	+1	no_errors	ENST00000264705	ensembl	human	known	70_37	missense	SNP	1.000	A
CAD	790	genome.wustl.edu	37	2	27465560	27465560	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr2:27465560G>A	ENST00000403525.1	+	40	6250	c.6106G>A	c.(6106-6108)Gtc>Atc	p.V2036I	CAD_ENST00000264705.4_Missense_Mutation_p.V2099I			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCAGTATCGTGTCAGCCTGCG	0.642																																																	0													91.0	82.0	85.0					2																	27465560		2203	4300	6503	SO:0001583	missense	790			D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.6106G>A	2.37:g.27465560G>A	ENSP00000384510:p.Val2036Ile		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_Asp/Orn_carbamoyltranf_P-bd,pfam_GATASE_1,pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_CarbamoylP_synth_lsu_oligo,pfam_CarbamoylP_synth_lsu_N,pfam_ATP-grasp_carboxylate-amine,pfam_MGS-like_dom,pfam_Dala_Dala_lig_C,pfam_Amidohydro_1,superfamily_Asp/Orn_carbamoylTrfase,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_fold,superfamily_MGS-like_dom,superfamily_Metal-dep_hydrolase_composite,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,prints_Asp_carbamoyltransf,prints_Asp/Orn_carbamoylTrfase,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu,tigrfam_Asp_carbamoyltransf	p.V2099I	ENST00000403525.1	37	c.6295		2	.	.	.	.	.	.	.	.	.	.	G	18.74	3.689129	0.68271	.	.	ENSG00000084774	ENST00000264705;ENST00000403525	D;D	0.98987	-5.3;-5.3	5.21	5.21	0.72293	Aspartate/ornithine carbamoyltransferase, Asp/Orn-binding domain (1);	0.059799	0.64402	D	0.000003	D	0.97278	0.9110	N	0.26130	0.795	0.49582	D	0.999801	B;B	0.27286	0.174;0.004	B;B	0.34138	0.176;0.019	D	0.96144	0.9102	10	0.46703	T	0.11	-12.6249	17.3212	0.87236	0.0:0.0:1.0:0.0	.	2036;2099	F8VPD4;P27708	.;PYR1_HUMAN	I	2099;2036	ENSP00000264705:V2099I;ENSP00000384510:V2036I	ENSP00000264705:V2099I	V	+	1	0	CAD	27319064	1.000000	0.71417	0.997000	0.53966	0.965000	0.64279	5.903000	0.69877	2.429000	0.82318	0.462000	0.41574	GTC	CAD	-	pfam_Asp_carbamoyltransf_Asp/Orn-bd,superfamily_Asp/Orn_carbamoylTrfase,tigrfam_Asp_carbamoyltransf		0.642	CAD-002	NOVEL	basic|exp_conf	protein_coding	CAD	HGNC	protein_coding	OTTHUMT00000324970.1	G			27465560	+1	no_errors	ENST00000264705	ensembl	human	known	70_37	missense	SNP	1.000	A
CAPN12	147968	genome.wustl.edu	37	19	39224780	39224780	+	Splice_Site	SNP	A	A	C			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr19:39224780A>C	ENST00000328867.4	-	17	2187		c.e17+1		CAPN12_ENST00000601953.1_Splice_Site	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	calpain 12						proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			CTCCCACCTCACCTGCCACTC	0.582																																																	0													50.0	53.0	52.0					19																	39224780		2196	4299	6495	SO:0001630	splice_region_variant	147968			BC014027	CCDS12519.1	19q13.2	2014-08-12			ENSG00000182472	ENSG00000182472		"""EF-hand domain containing"""	13249	protein-coding gene	gene with protein product		608839					Standard	NM_144691		Approved		uc002ojd.1	Q6ZSI9	OTTHUMG00000182525	ENST00000328867.4:c.1878+1T>G	19.37:g.39224780A>C				Splice_Site	SNP	-	e17+2	ENST00000328867.4	37	c.1878+2	CCDS12519.1	19	.	.	.	.	.	.	.	.	.	.	A	15.13	2.742014	0.49151	.	.	ENSG00000182472	ENST00000328867	.	.	.	4.39	4.39	0.52855	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.9091	0.41394	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CAPN12	43916620	0.968000	0.33430	0.972000	0.41901	0.616000	0.37450	1.941000	0.40233	1.849000	0.53698	0.379000	0.24179	.	CAPN12	-	-		0.582	CAPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPN12	HGNC	protein_coding	OTTHUMT00000462151.1	A		Intron	39224780	-1	no_errors	ENST00000328867	ensembl	human	known	70_37	splice_site	SNP	0.987	C
CASR	846	genome.wustl.edu	37	3	122003151	122003151	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr3:122003151G>T	ENST00000490131.1	+	7	2722	c.2350G>T	c.(2350-2352)Gct>Tct	p.A784S	CASR_ENST00000498619.1_Missense_Mutation_p.A794S|CASR_ENST00000296154.5_Missense_Mutation_p.A784S|AC068754.1_ENST00000408547.1_RNA	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	784					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CTGCCTGCTGGCTGCCATCTG	0.552																																																	0													41.0	40.0	40.0					3																	122003151		2203	4300	6503	SO:0001583	missense	846			U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"""GPCR / Class C : Calcium-sensing receptors"""	1514	protein-coding gene	gene with protein product	"""severe neonatal hyperparathyroidism"""	601199	"""hypocalciuric hypercalcemia 1"""	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.2350G>T	3.37:g.122003151G>T	ENSP00000418685:p.Ala784Ser		Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Growth_fac_rcpt,pfscan_GPCR_3_C,prints_GPCR_3	p.A794S	ENST00000490131.1	37	c.2380	CCDS3010.1	3	.	.	.	.	.	.	.	.	.	.	G	24.6	4.547485	0.86022	.	.	ENSG00000036828	ENST00000490131;ENST00000498619;ENST00000296154	D;D;D	0.89196	-2.48;-2.48;-2.48	5.93	5.93	0.95920	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.92880	0.7735	L	0.48877	1.53	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.997;0.998	D	0.92189	0.5758	10	0.49607	T	0.09	.	19.3162	0.94215	0.0:0.0:1.0:0.0	.	794;784	E7ENE0;P41180	.;CASR_HUMAN	S	784;794;784	ENSP00000418685:A784S;ENSP00000420194:A794S;ENSP00000296154:A784S	ENSP00000296154:A784S	A	+	1	0	CASR	123485841	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.864000	0.99589	2.802000	0.96397	0.561000	0.74099	GCT	CASR	-	pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3		0.552	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASR	HGNC	protein_coding	OTTHUMT00000355761.1	G	NM_000388		122003151	+1	no_errors	ENST00000498619	ensembl	human	known	70_37	missense	SNP	1.000	T
CASR	846	genome.wustl.edu	37	3	122003151	122003151	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr3:122003151G>T	ENST00000490131.1	+	7	2722	c.2350G>T	c.(2350-2352)Gct>Tct	p.A784S	CASR_ENST00000498619.1_Missense_Mutation_p.A794S|CASR_ENST00000296154.5_Missense_Mutation_p.A784S|AC068754.1_ENST00000408547.1_RNA	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	784					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CTGCCTGCTGGCTGCCATCTG	0.552																																																	0													41.0	40.0	40.0					3																	122003151		2203	4300	6503	SO:0001583	missense	846			U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"""GPCR / Class C : Calcium-sensing receptors"""	1514	protein-coding gene	gene with protein product	"""severe neonatal hyperparathyroidism"""	601199	"""hypocalciuric hypercalcemia 1"""	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.2350G>T	3.37:g.122003151G>T	ENSP00000418685:p.Ala784Ser		Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Growth_fac_rcpt,pfscan_GPCR_3_C,prints_GPCR_3	p.A794S	ENST00000490131.1	37	c.2380	CCDS3010.1	3	.	.	.	.	.	.	.	.	.	.	G	24.6	4.547485	0.86022	.	.	ENSG00000036828	ENST00000490131;ENST00000498619;ENST00000296154	D;D;D	0.89196	-2.48;-2.48;-2.48	5.93	5.93	0.95920	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.92880	0.7735	L	0.48877	1.53	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.997;0.998	D	0.92189	0.5758	10	0.49607	T	0.09	.	19.3162	0.94215	0.0:0.0:1.0:0.0	.	794;784	E7ENE0;P41180	.;CASR_HUMAN	S	784;794;784	ENSP00000418685:A784S;ENSP00000420194:A794S;ENSP00000296154:A784S	ENSP00000296154:A784S	A	+	1	0	CASR	123485841	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.864000	0.99589	2.802000	0.96397	0.561000	0.74099	GCT	CASR	-	pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3		0.552	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASR	HGNC	protein_coding	OTTHUMT00000355761.1	G	NM_000388		122003151	+1	no_errors	ENST00000498619	ensembl	human	known	70_37	missense	SNP	1.000	T
CCDC8	83987	genome.wustl.edu	37	19	46915956	46915956	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr19:46915956G>A	ENST00000307522.3	-	1	885	c.112C>T	c.(112-114)Cgg>Tgg	p.R38W		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	38					microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		agccgctcccgaaattctgct	0.657																																																	0													49.0	54.0	52.0					19																	46915956		2203	4300	6503	SO:0001583	missense	83987			BC025243	CCDS12685.1	19q13.33	2012-04-17			ENSG00000169515	ENSG00000169515		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25367	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 20"""	614145				11230166	Standard	NM_032040		Approved	DKFZp564K0322, 3M3, PPP1R20	uc002pep.3	Q9H0W5	OTTHUMG00000162348	ENST00000307522.3:c.112C>T	19.37:g.46915956G>A	ENSP00000303158:p.Arg38Trp		Q8TB26	Missense_Mutation	SNP	NULL	p.R38W	ENST00000307522.3	37	c.112	CCDS12685.1	19	.	.	.	.	.	.	.	.	.	.	G	20.2	3.943630	0.73672	.	.	ENSG00000169515	ENST00000307522;ENST00000540252	T	0.09538	2.97	4.26	3.22	0.36961	.	0.000000	0.37261	N	0.002179	T	0.10380	0.0254	M	0.64997	1.995	0.31905	N	0.615418	P	0.37352	0.591	B	0.28849	0.095	T	0.10382	-1.0632	10	0.66056	D	0.02	-18.8281	8.5396	0.33384	0.1123:0.0:0.8877:0.0	.	38	Q9H0W5	CCDC8_HUMAN	W	38	ENSP00000303158:R38W	ENSP00000303158:R38W	R	-	1	2	CCDC8	51607796	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.247000	0.51422	1.083000	0.41159	0.491000	0.48974	CGG	CCDC8	-	NULL		0.657	CCDC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC8	HGNC	protein_coding	OTTHUMT00000368598.1	G	NM_032040		46915956	-1	no_errors	ENST00000307522	ensembl	human	known	70_37	missense	SNP	1.000	A
CCDC8	83987	genome.wustl.edu	37	19	46915956	46915956	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr19:46915956G>A	ENST00000307522.3	-	1	885	c.112C>T	c.(112-114)Cgg>Tgg	p.R38W		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	38					microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		agccgctcccgaaattctgct	0.657																																																	0													49.0	54.0	52.0					19																	46915956		2203	4300	6503	SO:0001583	missense	83987			BC025243	CCDS12685.1	19q13.33	2012-04-17			ENSG00000169515	ENSG00000169515		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25367	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 20"""	614145				11230166	Standard	NM_032040		Approved	DKFZp564K0322, 3M3, PPP1R20	uc002pep.3	Q9H0W5	OTTHUMG00000162348	ENST00000307522.3:c.112C>T	19.37:g.46915956G>A	ENSP00000303158:p.Arg38Trp		Q8TB26	Missense_Mutation	SNP	NULL	p.R38W	ENST00000307522.3	37	c.112	CCDS12685.1	19	.	.	.	.	.	.	.	.	.	.	G	20.2	3.943630	0.73672	.	.	ENSG00000169515	ENST00000307522;ENST00000540252	T	0.09538	2.97	4.26	3.22	0.36961	.	0.000000	0.37261	N	0.002179	T	0.10380	0.0254	M	0.64997	1.995	0.31905	N	0.615418	P	0.37352	0.591	B	0.28849	0.095	T	0.10382	-1.0632	10	0.66056	D	0.02	-18.8281	8.5396	0.33384	0.1123:0.0:0.8877:0.0	.	38	Q9H0W5	CCDC8_HUMAN	W	38	ENSP00000303158:R38W	ENSP00000303158:R38W	R	-	1	2	CCDC8	51607796	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.247000	0.51422	1.083000	0.41159	0.491000	0.48974	CGG	CCDC8	-	NULL		0.657	CCDC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC8	HGNC	protein_coding	OTTHUMT00000368598.1	G	NM_032040		46915956	-1	no_errors	ENST00000307522	ensembl	human	known	70_37	missense	SNP	1.000	A
CD55	1604	genome.wustl.edu	37	1	207527419	207527419	+	Intron	SNP	C	C	T			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr1:207527419C>T	ENST00000367064.3	+	10	1339				CD55_ENST00000367065.5_Intron|CD55_ENST00000391920.4_Silent_p.I383I|CD55_ENST00000391921.4_Intron|CD55_ENST00000367067.4_Intron|CD55_ENST00000465534.1_Intron|CD55_ENST00000367062.4_Intron|CD55_ENST00000314754.8_Intron	NM_000574.3	NP_000565.1	P08174	DAF_HUMAN	CD55 molecule, decay accelerating factor for complement (Cromer blood group)						CD4-positive, alpha-beta T cell cytokine production (GO:0035743)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|maternal process involved in parturition (GO:0060137)|negative regulation of complement activation (GO:0045916)|positive regulation of CD4-positive, alpha-beta T cell activation (GO:2000516)|positive regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000563)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of complement activation (GO:0030449)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|respiratory burst (GO:0045730)|response to peptide hormone (GO:0043434)|response to virus (GO:0009615)|spermatogenesis (GO:0007283)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	enzyme inhibitor activity (GO:0004857)|lipid binding (GO:0008289)|virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16					Chloramphenicol(DB00446)	TGATGTGCATCCTCTAGGTCA	0.398																																																	0																																										SO:0001627	intron_variant	1604			BC001288	CCDS31006.1, CCDS44307.1, CCDS73022.1	1q32	2014-09-17	2006-03-28	2006-02-23	ENSG00000196352	ENSG00000196352		"""CD molecules"", ""Blood group antigens"""	2665	protein-coding gene	gene with protein product		125240	"""decay accelerating factor for complement (CD55, Cromer blood group system)"""	DAF			Standard	XM_005273077		Approved	CR, TC, CROM	uc001hfr.4	P08174	OTTHUMG00000036255	ENST00000367064.3:c.1082-5472C>T	1.37:g.207527419C>T			B1AP14|D3DT83|D3DT84|E7ER69|P09679|P78361|Q14UF2|Q14UF3|Q14UF4|Q14UF5|Q14UF6	Silent	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.I383	ENST00000367064.3	37	c.1149	CCDS31006.1	1																																																																																			CD55	-	NULL		0.398	CD55-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CD55	HGNC	protein_coding	OTTHUMT00000088208.2	C	NM_000574		207527419	+1	no_errors	ENST00000391920	ensembl	human	known	70_37	silent	SNP	0.000	T
CDH7	1005	genome.wustl.edu	37	18	63526275	63526275	+	Missense_Mutation	SNP	C	C	T	rs141136047	byFrequency	TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr18:63526275C>T	ENST00000397968.2	+	9	1913	c.1487C>T	c.(1486-1488)cCg>cTg	p.P496L	CDH7_ENST00000323011.3_Missense_Mutation_p.P496L|CDH7_ENST00000536984.2_Missense_Mutation_p.P496L	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	496	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)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				AATGCCCAGCCGGGGCAGGTA	0.433													C|||	3	0.000599042	0.0023	0.0	5008	,	,		17197	0.0		0.0	False		,,,				2504	0.0																0								C	LEU/PRO,LEU/PRO	6,4400	12.9+/-30.5	0,6,2197	67.0	68.0	68.0		1487,1487	4.4	0.5	18	dbSNP_134	68	0,8600		0,0,4300	no	missense,missense	CDH7	NM_004361.2,NM_033646.1	98,98	0,6,6497	TT,TC,CC		0.0,0.1362,0.0461	possibly-damaging,possibly-damaging	496/786,496/786	63526275	6,13000	2203	4300	6503	SO:0001583	missense	1005			AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"""Cadherins / Major cadherins"""	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.1487C>T	18.37:g.63526275C>T	ENSP00000381058:p.Pro496Leu		Q9H157	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P496L	ENST00000397968.2	37	c.1487	CCDS11993.1	18	.	.	.	.	.	.	.	.	.	.	C	22.6	4.313945	0.81358	0.001362	0.0	ENSG00000081138	ENST00000323011;ENST00000536984;ENST00000397966;ENST00000397968	T;T;T	0.59906	0.23;0.23;0.23	5.32	4.44	0.53790	Cadherin (3);Cadherin-like (1);	0.241522	0.41605	D	0.000844	T	0.67344	0.2883	M	0.65320	2	0.80722	D	1	P;D	0.69078	0.948;0.997	P;P	0.55545	0.526;0.778	T	0.72154	-0.4376	10	0.87932	D	0	.	14.187	0.65612	0.0:0.9271:0.0:0.0729	.	496;496	F5H5X9;Q9ULB5	.;CADH7_HUMAN	L	496	ENSP00000319166:P496L;ENSP00000443030:P496L;ENSP00000381058:P496L	ENSP00000319166:P496L	P	+	2	0	CDH7	61677255	0.881000	0.30235	0.451000	0.26982	0.955000	0.61496	4.719000	0.61937	1.370000	0.46153	0.467000	0.42956	CCG	CDH7	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin		0.433	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH7	HGNC	protein_coding	OTTHUMT00000256217.2	C	NM_033646		63526275	+1	no_errors	ENST00000323011	ensembl	human	known	70_37	missense	SNP	0.953	T
CDH7	1005	genome.wustl.edu	37	18	63526275	63526275	+	Missense_Mutation	SNP	C	C	T	rs141136047	byFrequency	TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr18:63526275C>T	ENST00000397968.2	+	9	1913	c.1487C>T	c.(1486-1488)cCg>cTg	p.P496L	CDH7_ENST00000323011.3_Missense_Mutation_p.P496L|CDH7_ENST00000536984.2_Missense_Mutation_p.P496L	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	496	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)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				AATGCCCAGCCGGGGCAGGTA	0.433													C|||	3	0.000599042	0.0023	0.0	5008	,	,		17197	0.0		0.0	False		,,,				2504	0.0																0								C	LEU/PRO,LEU/PRO	6,4400	12.9+/-30.5	0,6,2197	67.0	68.0	68.0		1487,1487	4.4	0.5	18	dbSNP_134	68	0,8600		0,0,4300	no	missense,missense	CDH7	NM_004361.2,NM_033646.1	98,98	0,6,6497	TT,TC,CC		0.0,0.1362,0.0461	possibly-damaging,possibly-damaging	496/786,496/786	63526275	6,13000	2203	4300	6503	SO:0001583	missense	1005			AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"""Cadherins / Major cadherins"""	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.1487C>T	18.37:g.63526275C>T	ENSP00000381058:p.Pro496Leu		Q9H157	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P496L	ENST00000397968.2	37	c.1487	CCDS11993.1	18	.	.	.	.	.	.	.	.	.	.	C	22.6	4.313945	0.81358	0.001362	0.0	ENSG00000081138	ENST00000323011;ENST00000536984;ENST00000397966;ENST00000397968	T;T;T	0.59906	0.23;0.23;0.23	5.32	4.44	0.53790	Cadherin (3);Cadherin-like (1);	0.241522	0.41605	D	0.000844	T	0.67344	0.2883	M	0.65320	2	0.80722	D	1	P;D	0.69078	0.948;0.997	P;P	0.55545	0.526;0.778	T	0.72154	-0.4376	10	0.87932	D	0	.	14.187	0.65612	0.0:0.9271:0.0:0.0729	.	496;496	F5H5X9;Q9ULB5	.;CADH7_HUMAN	L	496	ENSP00000319166:P496L;ENSP00000443030:P496L;ENSP00000381058:P496L	ENSP00000319166:P496L	P	+	2	0	CDH7	61677255	0.881000	0.30235	0.451000	0.26982	0.955000	0.61496	4.719000	0.61937	1.370000	0.46153	0.467000	0.42956	CCG	CDH7	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin		0.433	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH7	HGNC	protein_coding	OTTHUMT00000256217.2	C	NM_033646		63526275	+1	no_errors	ENST00000323011	ensembl	human	known	70_37	missense	SNP	0.953	T
CHRNA5	1138	genome.wustl.edu	37	15	78882973	78882973	+	Missense_Mutation	SNP	C	C	A	rs200127699		TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr15:78882973C>A	ENST00000299565.5	+	5	1440	c.1240C>A	c.(1240-1242)Cgt>Agt	p.R414S	CHRNA5_ENST00000559554.1_Intron|RP11-650L12.2_ENST00000567141.1_RNA	NM_000745.3	NP_000736.2	P30532	ACHA5_HUMAN	cholinergic receptor, nicotinic, alpha 5 (neuronal)	414					behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	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)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|skin(3)	15					Galantamine(DB00674)|Nicotine(DB00184)	AAATGATGTCCGTGAGGTCTG	0.383																																																	0													49.0	47.0	48.0					15																	78882973		2191	4291	6482	SO:0001583	missense	1138				CCDS10304.1	15q24	2012-02-11	2012-02-07		ENSG00000169684	ENSG00000169684		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1959	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 5 (neuronal)"""	118505	"""cholinergic receptor, nicotinic, alpha polypeptide 5"""			2004777	Standard	NM_000745		Approved		uc002bdy.3	P30532	OTTHUMG00000143858	ENST00000299565.5:c.1240C>A	15.37:g.78882973C>A	ENSP00000299565:p.Arg414Ser		Q15824|Q99554	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.R414S	ENST00000299565.5	37	c.1240	CCDS10304.1	15	.	.	.	.	.	.	.	.	.	.	C	10.79	1.450691	0.26074	.	.	ENSG00000169684	ENST00000299565	D	0.85088	-1.94	4.79	4.79	0.61399	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.706306	0.14406	N	0.321592	T	0.79185	0.4403	L	0.33624	1.015	0.80722	D	1	B	0.22276	0.067	B	0.23574	0.047	T	0.72207	-0.4360	10	0.10111	T	0.7	.	18.2639	0.90046	0.0:1.0:0.0:0.0	.	414	P30532	ACHA5_HUMAN	S	414	ENSP00000299565:R414S	ENSP00000299565:R414S	R	+	1	0	CHRNA5	76670028	1.000000	0.71417	0.507000	0.27676	0.556000	0.35491	4.909000	0.63314	2.382000	0.81193	0.558000	0.71614	CGT	CHRNA5	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM		0.383	CHRNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNA5	HGNC	protein_coding	OTTHUMT00000290106.1	C			78882973	+1	no_errors	ENST00000299565	ensembl	human	known	70_37	missense	SNP	1.000	A
CMKLR1	1240	genome.wustl.edu	37	12	108685762	108685762	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr12:108685762G>C	ENST00000312143.7	-	3	1341	c.978C>G	c.(976-978)ttC>ttG	p.F326L	CMKLR1_ENST00000552995.1_Missense_Mutation_p.F324L|CMKLR1_ENST00000550402.1_Missense_Mutation_p.F326L|CMKLR1_ENST00000397688.2_Missense_Mutation_p.F324L|CMKLR1_ENST00000412676.1_Missense_Mutation_p.F326L	NM_001142344.1|NM_004072.2	NP_001135816.1|NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	326					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of macrophage chemotaxis (GO:0010759)|regulation of calcium-mediated signaling (GO:0050848)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)			endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						GGGCCACCTTGAACTTCTTGA	0.507																																																	0													89.0	90.0	89.0					12																	108685762		1956	4157	6113	SO:0001583	missense	1240			U79526	CCDS41829.1, CCDS44965.1	12q23.3	2013-07-29			ENSG00000174600	ENSG00000174600		"""GPCR / Class A : Resolvin receptors"""	2121	protein-coding gene	gene with protein product	"""resolvin E1 receptor"", ""chemerin receptor"""	602351					Standard	NM_004072		Approved	RVER1	uc009zuw.3	Q99788	OTTHUMG00000169576	ENST00000312143.7:c.978C>G	12.37:g.108685762G>C	ENSP00000311733:p.Phe326Leu		A8K6Y5|O75748|Q3KP37|Q5U0H0|Q99789	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_DEZorph_rcpt,prints_GPCR_Rhodpsn,prints_Frt_met_rcpt,prints_Anphylx_rcpt,prints_ATII_rcpt	p.F326L	ENST00000312143.7	37	c.978	CCDS44965.1	12	.	.	.	.	.	.	.	.	.	.	g	11.39	1.624745	0.28889	.	.	ENSG00000174600	ENST00000312143;ENST00000412676;ENST00000397688;ENST00000552995;ENST00000550402	T;T;T;T;T	0.36520	1.25;1.25;1.25;1.25;1.25	5.36	5.36	0.76844	.	0.116455	0.64402	D	0.000018	T	0.17238	0.0414	N	0.03238	-0.38	0.46798	D	0.999204	B	0.20887	0.049	B	0.25614	0.062	T	0.15752	-1.0426	10	0.17369	T	0.5	.	11.5418	0.50672	0.0815:0.0:0.9185:0.0	.	326	Q99788	CML1_HUMAN	L	326;326;324;324;326	ENSP00000311733:F326L;ENSP00000401293:F326L;ENSP00000380803:F324L;ENSP00000447579:F324L;ENSP00000449716:F326L	ENSP00000311733:F326L	F	-	3	2	CMKLR1	107209892	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.864000	0.48404	2.499000	0.84300	0.556000	0.70494	TTC	CMKLR1	-	prints_Anphylx_rcpt		0.507	CMKLR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CMKLR1	HGNC	protein_coding	OTTHUMT00000404867.1	G			108685762	-1	no_errors	ENST00000312143	ensembl	human	known	70_37	missense	SNP	1.000	C
CMKLR1	1240	genome.wustl.edu	37	12	108685762	108685762	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr12:108685762G>C	ENST00000312143.7	-	3	1341	c.978C>G	c.(976-978)ttC>ttG	p.F326L	CMKLR1_ENST00000552995.1_Missense_Mutation_p.F324L|CMKLR1_ENST00000550402.1_Missense_Mutation_p.F326L|CMKLR1_ENST00000397688.2_Missense_Mutation_p.F324L|CMKLR1_ENST00000412676.1_Missense_Mutation_p.F326L	NM_001142344.1|NM_004072.2	NP_001135816.1|NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	326					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of macrophage chemotaxis (GO:0010759)|regulation of calcium-mediated signaling (GO:0050848)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)			endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						GGGCCACCTTGAACTTCTTGA	0.507																																																	0													89.0	90.0	89.0					12																	108685762		1956	4157	6113	SO:0001583	missense	1240			U79526	CCDS41829.1, CCDS44965.1	12q23.3	2013-07-29			ENSG00000174600	ENSG00000174600		"""GPCR / Class A : Resolvin receptors"""	2121	protein-coding gene	gene with protein product	"""resolvin E1 receptor"", ""chemerin receptor"""	602351					Standard	NM_004072		Approved	RVER1	uc009zuw.3	Q99788	OTTHUMG00000169576	ENST00000312143.7:c.978C>G	12.37:g.108685762G>C	ENSP00000311733:p.Phe326Leu		A8K6Y5|O75748|Q3KP37|Q5U0H0|Q99789	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_DEZorph_rcpt,prints_GPCR_Rhodpsn,prints_Frt_met_rcpt,prints_Anphylx_rcpt,prints_ATII_rcpt	p.F326L	ENST00000312143.7	37	c.978	CCDS44965.1	12	.	.	.	.	.	.	.	.	.	.	g	11.39	1.624745	0.28889	.	.	ENSG00000174600	ENST00000312143;ENST00000412676;ENST00000397688;ENST00000552995;ENST00000550402	T;T;T;T;T	0.36520	1.25;1.25;1.25;1.25;1.25	5.36	5.36	0.76844	.	0.116455	0.64402	D	0.000018	T	0.17238	0.0414	N	0.03238	-0.38	0.46798	D	0.999204	B	0.20887	0.049	B	0.25614	0.062	T	0.15752	-1.0426	10	0.17369	T	0.5	.	11.5418	0.50672	0.0815:0.0:0.9185:0.0	.	326	Q99788	CML1_HUMAN	L	326;326;324;324;326	ENSP00000311733:F326L;ENSP00000401293:F326L;ENSP00000380803:F324L;ENSP00000447579:F324L;ENSP00000449716:F326L	ENSP00000311733:F326L	F	-	3	2	CMKLR1	107209892	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.864000	0.48404	2.499000	0.84300	0.556000	0.70494	TTC	CMKLR1	-	prints_Anphylx_rcpt		0.507	CMKLR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CMKLR1	HGNC	protein_coding	OTTHUMT00000404867.1	G			108685762	-1	no_errors	ENST00000312143	ensembl	human	known	70_37	missense	SNP	1.000	C
CNGB3	54714	genome.wustl.edu	37	8	87591017	87591017	+	Missense_Mutation	SNP	G	G	T	rs146161333		TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr8:87591017G>T	ENST00000320005.5	-	17	2050	c.2003C>A	c.(2002-2004)cCg>cAg	p.P668Q		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	668					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						CTCTTCTTTCGGTGGGAAGAG	0.468																																																	0													133.0	131.0	132.0					8																	87591017		2203	4300	6503	SO:0001583	missense	54714			AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2153	protein-coding gene	gene with protein product		605080	"""achromatopsia (rod monochromacy) 3"", ""achromatopsia (rod monochromacy) 1"""	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.2003C>A	8.37:g.87591017G>T	ENSP00000316605:p.Pro668Gln		C9JA51|Q9NRE9	Missense_Mutation	SNP	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.P668Q	ENST00000320005.5	37	c.2003	CCDS6244.1	8	.	.	.	.	.	.	.	.	.	.	g	8.328	0.825911	0.16749	.	.	ENSG00000170289	ENST00000517327;ENST00000320005	T;T	0.76968	-1.06;0.17	5.3	3.53	0.40419	.	0.244954	0.33753	N	0.004590	T	0.57621	0.2066	N	0.17474	0.49	0.09310	N	1	P;P	0.42123	0.771;0.662	B;B	0.36922	0.236;0.119	T	0.49244	-0.8960	10	0.33940	T	0.23	.	7.4799	0.27398	0.1393:0.0:0.6998:0.1609	.	663;668	Q9NQW8-2;Q9NQW8	.;CNGB3_HUMAN	Q	59;668	ENSP00000428329:P59Q;ENSP00000316605:P668Q	ENSP00000316605:P668Q	P	-	2	0	CNGB3	87660133	0.002000	0.14202	0.060000	0.19600	0.394000	0.30568	1.022000	0.30052	0.650000	0.30769	-1.292000	0.01352	CCG	CNGB3	-	NULL		0.468	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNGB3	HGNC	protein_coding	OTTHUMT00000375107.1	G	NM_019098		87591017	-1	no_errors	ENST00000320005	ensembl	human	known	70_37	missense	SNP	0.053	T
CPA4	51200	genome.wustl.edu	37	7	129962360	129962360	+	Silent	SNP	G	G	T	rs1569133	byFrequency	TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr7:129962360G>T	ENST00000222482.4	+	11	1138	c.1110G>T	c.(1108-1110)gcG>gcT	p.A370A	CPA4_ENST00000493259.1_Silent_p.A266A|CPA4_ENST00000445470.2_Silent_p.A337A	NM_016352.3	NP_057436.2	Q9UI42	CBPA4_HUMAN	carboxypeptidase A4	370					histone acetylation (GO:0016573)	extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Melanoma(18;0.0435)					TCGACTGGGCATATGACAACG	0.527																																																	0													152.0	139.0	143.0					7																	129962360		2203	4300	6503	SO:0001819	synonymous_variant	51200			AF095719	CCDS5818.1, CCDS55163.1	7q32	2008-07-18			ENSG00000128510	ENSG00000128510			15740	protein-coding gene	gene with protein product	"""carboxypeptidase A3"""	607635				10383164, 10860668	Standard	NM_016352		Approved	CPA3	uc003vpr.3	Q9UI42	OTTHUMG00000157825	ENST00000222482.4:c.1110G>T	7.37:g.129962360G>T			B7Z576|Q86UY9	Silent	SNP	pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14	p.A370	ENST00000222482.4	37	c.1110	CCDS5818.1	7																																																																																			CPA4	-	pfam_Peptidase_M14,smart_Peptidase_M14		0.527	CPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPA4	HGNC	protein_coding	OTTHUMT00000349725.1	G	NM_016352		129962360	+1	no_errors	ENST00000222482	ensembl	human	known	70_37	silent	SNP	0.002	T
CRMP1	1400	genome.wustl.edu	37	4	5844878	5844878	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr4:5844878C>A	ENST00000397890.2	-	7	846	c.632G>T	c.(631-633)cGg>cTg	p.R211L	CRMP1_ENST00000324989.7_Missense_Mutation_p.R325L|CRMP1_ENST00000512574.1_Missense_Mutation_p.R209L|CRMP1_ENST00000511535.1_5'UTR	NM_001313.3	NP_001304.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	211					axon guidance (GO:0007411)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|pyrimidine nucleobase catabolic process (GO:0006208)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|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)			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		CTCCAGGATCCGCTTTTGTTC	0.552																																																	0													147.0	125.0	132.0					4																	5844878		2203	4300	6503	SO:0001583	missense	1400			D78012	CCDS33950.1, CCDS43207.1, CCDS75102.1	4p16.1	2008-05-15			ENSG00000072832	ENSG00000072832			2365	protein-coding gene	gene with protein product		602462				8973361	Standard	XM_005247940		Approved	DRP-1, DPYSL1	uc003gis.3	Q14194	OTTHUMG00000125489	ENST00000397890.2:c.632G>T	4.37:g.5844878C>A	ENSP00000380987:p.Arg211Leu		A0EJG6|Q13024|Q4W5F1|Q96TC8	Missense_Mutation	SNP	pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	p.R325L	ENST00000397890.2	37	c.974	CCDS43207.1	4	.	.	.	.	.	.	.	.	.	.	C	14.88	2.667231	0.47677	.	.	ENSG00000072832	ENST00000324989;ENST00000397890;ENST00000534845;ENST00000512574	D;D;D	0.90504	-2.68;-2.68;-2.68	4.13	4.13	0.48395	Amidohydrolase 1 (1);Metal-dependent hydrolase, composite domain (1);	0.071421	0.56097	D	0.000029	D	0.93569	0.7947	M	0.85462	2.755	0.47584	D	0.999461	P;B;B;P	0.46220	0.743;0.215;0.05;0.874	B;B;B;P	0.50192	0.406;0.058;0.039;0.634	D	0.94939	0.8089	10	0.87932	D	0	-19.9939	15.9234	0.79592	0.0:1.0:0.0:0.0	.	325;209;211;148	A0EJG6;E9PD68;Q14194;B3KT07	.;.;DPYL1_HUMAN;.	L	325;211;211;209	ENSP00000321606:R325L;ENSP00000380987:R211L;ENSP00000425742:R209L	ENSP00000321606:R325L	R	-	2	0	CRMP1	5895779	0.203000	0.23435	1.000000	0.80357	0.560000	0.35617	2.800000	0.47900	2.301000	0.77427	0.591000	0.81541	CGG	CRMP1	-	pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase		0.552	CRMP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CRMP1	HGNC	protein_coding	OTTHUMT00000358871.1	C	NM_001313		5844878	-1	no_errors	ENST00000324989	ensembl	human	known	70_37	missense	SNP	1.000	A
CTAGE5	4253	genome.wustl.edu	37	14	39764153	39764153	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr14:39764153C>G	ENST00000280083.3	+	8	906	c.592C>G	c.(592-594)Caa>Gaa	p.Q198E	RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.Q169E|RP11-407N17.3_ENST00000553728.1_Missense_Mutation_p.Q733E|CTAGE5_ENST00000348007.3_Missense_Mutation_p.Q198E|CTAGE5_ENST00000341749.3_Missense_Mutation_p.Q186E|CTAGE5_ENST00000396158.2_Missense_Mutation_p.Q203E|CTAGE5_ENST00000396165.4_Missense_Mutation_p.Q169E|CTAGE5_ENST00000553352.1_Missense_Mutation_p.Q169E|CTAGE5_ENST00000341502.5_Missense_Mutation_p.Q198E|CTAGE5_ENST00000556148.1_Missense_Mutation_p.Q123E|CTAGE5_ENST00000557038.1_Missense_Mutation_p.Q118E			O15320	CTGE5_HUMAN	CTAGE family, member 5	198				Q -> P (in Ref. 1; AAB86593). {ECO:0000305}.	positive regulation of catalytic activity (GO:0043085)	membrane (GO:0016020)	enzyme activator activity (GO:0008047)		CTAGE5/SIP1(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		CAAGATATTTCAAATGAATGA	0.338																																																	0													94.0	98.0	96.0					14																	39764153		2203	4300	6503	SO:0001583	missense	4253			U94780	CCDS9673.1, CCDS9674.1, CCDS9675.1, CCDS9676.1, CCDS58316.1, CCDS58317.1	14q21.1	2009-09-11	2004-08-24	2004-08-26	ENSG00000150527	ENSG00000150527			7057	protein-coding gene	gene with protein product		602132	"""meningioma expressed antigen 6 (coiled-coil proline-rich)"""	MGEA, MGEA6		9356211, 11149944	Standard	NM_203355		Approved	MEA6, cTAGE-5A, cTAGE-5B, cTAGE-5C, cTAGE-5D, MGEA11	uc001wvi.4	O15320	OTTHUMG00000140258	ENST00000280083.3:c.592C>G	14.37:g.39764153C>G	ENSP00000280083:p.Gln198Glu		B3KRA6|B4DQS6|D3DSA6|G3XAC5|O00169|Q6MZN2|Q6P2R8|Q86TF6|Q8IX92|Q8IX93	Missense_Mutation	SNP	NULL	p.Q203E	ENST00000280083.3	37	c.607	CCDS9674.1	14	.	.	.	.	.	.	.	.	.	.	C	8.490	0.861819	0.17178	.	.	ENSG00000258941;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527	ENST00000553728;ENST00000341749;ENST00000557038;ENST00000382245;ENST00000396165;ENST00000341502;ENST00000396158;ENST00000280083;ENST00000556148;ENST00000348007;ENST00000553352	T;T;T;T;T;T;T;T;T;T	0.74737	1.24;-0.87;1.24;-0.87;-0.87;1.24;-0.87;1.24;-0.87;-0.87	5.69	2.64	0.31445	.	0.280522	0.19174	N	0.120867	T	0.62527	0.2435	L	0.42632	1.34	0.25104	N	0.990761	B;B;B;B;B;B	0.14012	0.009;0.005;0.001;0.005;0.0;0.003	B;B;B;B;B;B	0.17098	0.017;0.012;0.012;0.012;0.012;0.012	T	0.48969	-0.8987	9	.	.	.	.	7.9806	0.30181	0.2896:0.4104:0.3001:0.0	.	160;203;198;198;169;186	F8W9E1;O15320-5;O15320-2;O15320;O15320-7;G3XAC5	.;.;.;CTGE5_HUMAN;.;.	E	733;186;118;160;169;198;203;198;123;198;169	ENSP00000452252:Q733E;ENSP00000343897:Q186E;ENSP00000450869:Q118E;ENSP00000379468:Q169E;ENSP00000339286:Q198E;ENSP00000379462:Q203E;ENSP00000280083:Q198E;ENSP00000452562:Q123E;ENSP00000343912:Q198E;ENSP00000450449:Q169E	.	Q	+	1	0	CTAGE5;RP11-407N17.3	38833904	1.000000	0.71417	1.000000	0.80357	0.764000	0.43329	0.585000	0.23879	0.701000	0.31803	0.557000	0.71058	CAA	CTAGE5	-	NULL		0.338	CTAGE5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	CTAGE5	HGNC	protein_coding	OTTHUMT00000276771.2	C	NM_005930		39764153	+1	no_errors	ENST00000396158	ensembl	human	known	70_37	missense	SNP	1.000	G
CTAGE5	4253	genome.wustl.edu	37	14	39764153	39764153	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr14:39764153C>G	ENST00000280083.3	+	8	906	c.592C>G	c.(592-594)Caa>Gaa	p.Q198E	RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.Q169E|RP11-407N17.3_ENST00000553728.1_Missense_Mutation_p.Q733E|CTAGE5_ENST00000348007.3_Missense_Mutation_p.Q198E|CTAGE5_ENST00000341749.3_Missense_Mutation_p.Q186E|CTAGE5_ENST00000396158.2_Missense_Mutation_p.Q203E|CTAGE5_ENST00000396165.4_Missense_Mutation_p.Q169E|CTAGE5_ENST00000553352.1_Missense_Mutation_p.Q169E|CTAGE5_ENST00000341502.5_Missense_Mutation_p.Q198E|CTAGE5_ENST00000556148.1_Missense_Mutation_p.Q123E|CTAGE5_ENST00000557038.1_Missense_Mutation_p.Q118E			O15320	CTGE5_HUMAN	CTAGE family, member 5	198				Q -> P (in Ref. 1; AAB86593). {ECO:0000305}.	positive regulation of catalytic activity (GO:0043085)	membrane (GO:0016020)	enzyme activator activity (GO:0008047)		CTAGE5/SIP1(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		CAAGATATTTCAAATGAATGA	0.338																																																	0													94.0	98.0	96.0					14																	39764153		2203	4300	6503	SO:0001583	missense	4253			U94780	CCDS9673.1, CCDS9674.1, CCDS9675.1, CCDS9676.1, CCDS58316.1, CCDS58317.1	14q21.1	2009-09-11	2004-08-24	2004-08-26	ENSG00000150527	ENSG00000150527			7057	protein-coding gene	gene with protein product		602132	"""meningioma expressed antigen 6 (coiled-coil proline-rich)"""	MGEA, MGEA6		9356211, 11149944	Standard	NM_203355		Approved	MEA6, cTAGE-5A, cTAGE-5B, cTAGE-5C, cTAGE-5D, MGEA11	uc001wvi.4	O15320	OTTHUMG00000140258	ENST00000280083.3:c.592C>G	14.37:g.39764153C>G	ENSP00000280083:p.Gln198Glu		B3KRA6|B4DQS6|D3DSA6|G3XAC5|O00169|Q6MZN2|Q6P2R8|Q86TF6|Q8IX92|Q8IX93	Missense_Mutation	SNP	NULL	p.Q203E	ENST00000280083.3	37	c.607	CCDS9674.1	14	.	.	.	.	.	.	.	.	.	.	C	8.490	0.861819	0.17178	.	.	ENSG00000258941;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527	ENST00000553728;ENST00000341749;ENST00000557038;ENST00000382245;ENST00000396165;ENST00000341502;ENST00000396158;ENST00000280083;ENST00000556148;ENST00000348007;ENST00000553352	T;T;T;T;T;T;T;T;T;T	0.74737	1.24;-0.87;1.24;-0.87;-0.87;1.24;-0.87;1.24;-0.87;-0.87	5.69	2.64	0.31445	.	0.280522	0.19174	N	0.120867	T	0.62527	0.2435	L	0.42632	1.34	0.25104	N	0.990761	B;B;B;B;B;B	0.14012	0.009;0.005;0.001;0.005;0.0;0.003	B;B;B;B;B;B	0.17098	0.017;0.012;0.012;0.012;0.012;0.012	T	0.48969	-0.8987	9	.	.	.	.	7.9806	0.30181	0.2896:0.4104:0.3001:0.0	.	160;203;198;198;169;186	F8W9E1;O15320-5;O15320-2;O15320;O15320-7;G3XAC5	.;.;.;CTGE5_HUMAN;.;.	E	733;186;118;160;169;198;203;198;123;198;169	ENSP00000452252:Q733E;ENSP00000343897:Q186E;ENSP00000450869:Q118E;ENSP00000379468:Q169E;ENSP00000339286:Q198E;ENSP00000379462:Q203E;ENSP00000280083:Q198E;ENSP00000452562:Q123E;ENSP00000343912:Q198E;ENSP00000450449:Q169E	.	Q	+	1	0	CTAGE5;RP11-407N17.3	38833904	1.000000	0.71417	1.000000	0.80357	0.764000	0.43329	0.585000	0.23879	0.701000	0.31803	0.557000	0.71058	CAA	CTAGE5	-	NULL		0.338	CTAGE5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	CTAGE5	HGNC	protein_coding	OTTHUMT00000276771.2	C	NM_005930		39764153	+1	no_errors	ENST00000396158	ensembl	human	known	70_37	missense	SNP	1.000	G
CYP3A43	64816	genome.wustl.edu	37	7	99445165	99445165	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr7:99445165G>A	ENST00000354829.2	+	5	476	c.373G>A	c.(373-375)Gaa>Aaa	p.E125K	CYP3A43_ENST00000477658.1_3'UTR|CYP3A43_ENST00000222382.5_Missense_Mutation_p.E125K|CYP3A43_ENST00000312017.5_Missense_Mutation_p.E125K|CYP3A43_ENST00000444905.1_Intron|CYP3A43_ENST00000415413.1_Intron|CYP3A43_ENST00000342499.4_5'UTR|CYP3A43_ENST00000417625.1_Intron	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 43	125			Missing (in allele CYP3A43*2).		small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Dexamethasone(DB01234)|Dolutegravir(DB08930)|Ethosuximide(DB00593)|Oxazepam(DB00842)|Phenelzine(DB00780)|Praziquantel(DB01058)|Rifampicin(DB01045)|Rifapentine(DB01201)|Testosterone(DB00624)|Troleandomycin(DB01361)|Zalcitabine(DB00943)	TGAAGATGAAGAATGGAAGAG	0.353																																																	0													133.0	133.0	133.0					7																	99445165		2203	4300	6503	SO:0001583	missense	64816			AF319634	CCDS5675.1, CCDS5676.1, CCDS5677.1, CCDS64723.1	7q21.1	2007-12-14	2003-01-14		ENSG00000021461	ENSG00000021461		"""Cytochrome P450s"""	17450	protein-coding gene	gene with protein product		606534	"""cytochrome P450, subfamily IIIA, polypeptide 43"""			11160876, 11266076	Standard	NM_022820		Approved		uc003ury.1	Q9HB55	OTTHUMG00000156498	ENST00000354829.2:c.373G>A	7.37:g.99445165G>A	ENSP00000346887:p.Glu125Lys		Q495Y1|Q75MK2|Q75MK3|Q9HB52|Q9HB53|Q9HB54|Q9HB57	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_CYP3A,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450	p.E125K	ENST00000354829.2	37	c.373	CCDS5676.1	7	.	.	.	.	.	.	.	.	.	.	G	13.59	2.281887	0.40394	.	.	ENSG00000021461	ENST00000354829;ENST00000312017;ENST00000222382	T;T;T	0.66460	-0.21;-0.21;-0.21	2.58	-5.16	0.02857	.	0.636178	0.16119	N	0.228736	T	0.47948	0.1473	N	0.20610	0.595	0.22888	N	0.99861	B;B;B	0.14805	0.011;0.004;0.002	B;B;B	0.21546	0.035;0.008;0.004	T	0.34675	-0.9819	10	0.56958	D	0.05	.	14.2079	0.65746	0.0:0.7907:0.2093:0.0	.	125;125;125	Q9HB55-3;Q75MK2;Q9HB55	.;.;CP343_HUMAN	K	125	ENSP00000346887:E125K;ENSP00000312110:E125K;ENSP00000222382:E125K	ENSP00000222382:E125K	E	+	1	0	CYP3A43	99283101	0.000000	0.05858	0.337000	0.25536	0.823000	0.46562	-0.651000	0.05372	-0.839000	0.04212	0.205000	0.17691	GAA	CYP3A43	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-II		0.353	CYP3A43-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CYP3A43	HGNC	protein_coding	OTTHUMT00000344379.1	G			99445165	+1	no_errors	ENST00000222382	ensembl	human	known	70_37	missense	SNP	0.248	A
CYP3A43	64816	genome.wustl.edu	37	7	99445165	99445165	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr7:99445165G>A	ENST00000354829.2	+	5	476	c.373G>A	c.(373-375)Gaa>Aaa	p.E125K	CYP3A43_ENST00000477658.1_3'UTR|CYP3A43_ENST00000222382.5_Missense_Mutation_p.E125K|CYP3A43_ENST00000312017.5_Missense_Mutation_p.E125K|CYP3A43_ENST00000444905.1_Intron|CYP3A43_ENST00000415413.1_Intron|CYP3A43_ENST00000342499.4_5'UTR|CYP3A43_ENST00000417625.1_Intron	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 43	125			Missing (in allele CYP3A43*2).		small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Dexamethasone(DB01234)|Dolutegravir(DB08930)|Ethosuximide(DB00593)|Oxazepam(DB00842)|Phenelzine(DB00780)|Praziquantel(DB01058)|Rifampicin(DB01045)|Rifapentine(DB01201)|Testosterone(DB00624)|Troleandomycin(DB01361)|Zalcitabine(DB00943)	TGAAGATGAAGAATGGAAGAG	0.353																																																	0													133.0	133.0	133.0					7																	99445165		2203	4300	6503	SO:0001583	missense	64816			AF319634	CCDS5675.1, CCDS5676.1, CCDS5677.1, CCDS64723.1	7q21.1	2007-12-14	2003-01-14		ENSG00000021461	ENSG00000021461		"""Cytochrome P450s"""	17450	protein-coding gene	gene with protein product		606534	"""cytochrome P450, subfamily IIIA, polypeptide 43"""			11160876, 11266076	Standard	NM_022820		Approved		uc003ury.1	Q9HB55	OTTHUMG00000156498	ENST00000354829.2:c.373G>A	7.37:g.99445165G>A	ENSP00000346887:p.Glu125Lys		Q495Y1|Q75MK2|Q75MK3|Q9HB52|Q9HB53|Q9HB54|Q9HB57	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_CYP3A,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450	p.E125K	ENST00000354829.2	37	c.373	CCDS5676.1	7	.	.	.	.	.	.	.	.	.	.	G	13.59	2.281887	0.40394	.	.	ENSG00000021461	ENST00000354829;ENST00000312017;ENST00000222382	T;T;T	0.66460	-0.21;-0.21;-0.21	2.58	-5.16	0.02857	.	0.636178	0.16119	N	0.228736	T	0.47948	0.1473	N	0.20610	0.595	0.22888	N	0.99861	B;B;B	0.14805	0.011;0.004;0.002	B;B;B	0.21546	0.035;0.008;0.004	T	0.34675	-0.9819	10	0.56958	D	0.05	.	14.2079	0.65746	0.0:0.7907:0.2093:0.0	.	125;125;125	Q9HB55-3;Q75MK2;Q9HB55	.;.;CP343_HUMAN	K	125	ENSP00000346887:E125K;ENSP00000312110:E125K;ENSP00000222382:E125K	ENSP00000222382:E125K	E	+	1	0	CYP3A43	99283101	0.000000	0.05858	0.337000	0.25536	0.823000	0.46562	-0.651000	0.05372	-0.839000	0.04212	0.205000	0.17691	GAA	CYP3A43	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-II		0.353	CYP3A43-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CYP3A43	HGNC	protein_coding	OTTHUMT00000344379.1	G			99445165	+1	no_errors	ENST00000222382	ensembl	human	known	70_37	missense	SNP	0.248	A
CYP4F35P	284233	genome.wustl.edu	37	18	14337528	14337528	+	lincRNA	SNP	G	G	T			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr18:14337528G>T	ENST00000582957.1	+	0	107					NR_026756.1				cytochrome P450, family 4, subfamily F, polypeptide 35, pseudogene																		CTGCCCTACAGACCGTAAAGG	0.512																																																	0																																												284233					18p11.21	2013-11-11			ENSG00000265787	ENSG00000265787		"""Cytochrome P450s"""	39954	pseudogene	pseudogene							Standard	NR_026756		Approved	CYP4F-se8[6:7:8]	uc002ktb.3		OTTHUMG00000178670		18.37:g.14337528G>T				RNA	SNP	-	NULL	ENST00000582957.1	37	NULL		18																																																																																			CYP4F35P	-	-		0.512	CYP4F35P-001	KNOWN	basic	lincRNA	CYP4F35P	HGNC	lincRNA	OTTHUMT00000442865.1	G	NR_026756		14337528	+1	no_errors	ENST00000582957	ensembl	human	known	70_37	rna	SNP	0.092	T
CYSLTR1	10800	genome.wustl.edu	37	X	77529174	77529174	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chrX:77529174G>C	ENST00000373304.3	-	3	362	c.70C>G	c.(70-72)Caa>Gaa	p.Q24E		NM_001282187.1|NM_001282188.1|NM_006639.3	NP_001269116.1|NP_001269117.1|NP_006630.1	Q9Y271	CLTR1_HUMAN	cysteinyl leukotriene receptor 1	24					defense response (GO:0006952)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|respiratory gaseous exchange (GO:0007585)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	leukotriene receptor activity (GO:0004974)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14					Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)	GAATACACTTGATTGCGGAAG	0.418																																																	0													174.0	134.0	148.0					X																	77529174		2203	4300	6503	SO:0001583	missense	10800			AF119711	CCDS14439.1	Xq13-q21	2012-08-10			ENSG00000173198	ENSG00000173198		"""GPCR / Class A : Leukotriene receptors"""	17451	protein-coding gene	gene with protein product		300201				10391245, 10462554	Standard	NM_006639		Approved	CysLT1, CysLT(1), CYSLT1R	uc004edb.3	Q9Y271	OTTHUMG00000021889	ENST00000373304.3:c.70C>G	X.37:g.77529174G>C	ENSP00000362401:p.Gln24Glu		B2R954|D3DTE4|Q5JS94|Q8IV19	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Cyst_leuk_rcpt,prints_CLT1_recept,prints_GPCR_Rhodpsn,prints_P2_purnocptor	p.Q24E	ENST00000373304.3	37	c.70	CCDS14439.1	X	.	.	.	.	.	.	.	.	.	.	g	0.560	-0.845798	0.02671	.	.	ENSG00000173198	ENST00000373304	T	0.37058	1.22	4.53	4.53	0.55603	.	0.260319	0.38778	N	0.001568	T	0.11665	0.0284	N	0.08118	0	0.31782	N	0.630765	P	0.39782	0.688	B	0.24974	0.057	T	0.21999	-1.0229	10	0.02654	T	1	.	9.2922	0.37793	0.0:0.0:0.7852:0.2148	.	24	Q9Y271	CLTR1_HUMAN	E	24	ENSP00000362401:Q24E	ENSP00000362401:Q24E	Q	-	1	0	CYSLTR1	77415830	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.722000	0.47269	1.823000	0.53134	0.452000	0.29995	CAA	CYSLTR1	-	prints_Cyst_leuk_rcpt		0.418	CYSLTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYSLTR1	HGNC	protein_coding	OTTHUMT00000057315.1	G			77529174	-1	no_errors	ENST00000373304	ensembl	human	known	70_37	missense	SNP	1.000	C
CYSLTR1	10800	genome.wustl.edu	37	X	77529174	77529174	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chrX:77529174G>C	ENST00000373304.3	-	3	362	c.70C>G	c.(70-72)Caa>Gaa	p.Q24E		NM_001282187.1|NM_001282188.1|NM_006639.3	NP_001269116.1|NP_001269117.1|NP_006630.1	Q9Y271	CLTR1_HUMAN	cysteinyl leukotriene receptor 1	24					defense response (GO:0006952)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|respiratory gaseous exchange (GO:0007585)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	leukotriene receptor activity (GO:0004974)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14					Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)	GAATACACTTGATTGCGGAAG	0.418																																																	0													174.0	134.0	148.0					X																	77529174		2203	4300	6503	SO:0001583	missense	10800			AF119711	CCDS14439.1	Xq13-q21	2012-08-10			ENSG00000173198	ENSG00000173198		"""GPCR / Class A : Leukotriene receptors"""	17451	protein-coding gene	gene with protein product		300201				10391245, 10462554	Standard	NM_006639		Approved	CysLT1, CysLT(1), CYSLT1R	uc004edb.3	Q9Y271	OTTHUMG00000021889	ENST00000373304.3:c.70C>G	X.37:g.77529174G>C	ENSP00000362401:p.Gln24Glu		B2R954|D3DTE4|Q5JS94|Q8IV19	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Cyst_leuk_rcpt,prints_CLT1_recept,prints_GPCR_Rhodpsn,prints_P2_purnocptor	p.Q24E	ENST00000373304.3	37	c.70	CCDS14439.1	X	.	.	.	.	.	.	.	.	.	.	g	0.560	-0.845798	0.02671	.	.	ENSG00000173198	ENST00000373304	T	0.37058	1.22	4.53	4.53	0.55603	.	0.260319	0.38778	N	0.001568	T	0.11665	0.0284	N	0.08118	0	0.31782	N	0.630765	P	0.39782	0.688	B	0.24974	0.057	T	0.21999	-1.0229	10	0.02654	T	1	.	9.2922	0.37793	0.0:0.0:0.7852:0.2148	.	24	Q9Y271	CLTR1_HUMAN	E	24	ENSP00000362401:Q24E	ENSP00000362401:Q24E	Q	-	1	0	CYSLTR1	77415830	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.722000	0.47269	1.823000	0.53134	0.452000	0.29995	CAA	CYSLTR1	-	prints_Cyst_leuk_rcpt		0.418	CYSLTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYSLTR1	HGNC	protein_coding	OTTHUMT00000057315.1	G			77529174	-1	no_errors	ENST00000373304	ensembl	human	known	70_37	missense	SNP	1.000	C
DACT1	51339	genome.wustl.edu	37	14	59113479	59113479	+	Missense_Mutation	SNP	A	A	G	rs368345387		TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr14:59113479A>G	ENST00000335867.4	+	4	2162	c.2138A>G	c.(2137-2139)tAc>tGc	p.Y713C	DACT1_ENST00000395153.3_Missense_Mutation_p.Y676C|DACT1_ENST00000541264.2_Missense_Mutation_p.Y432C|DACT1_ENST00000556859.1_Missense_Mutation_p.Y432C			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	713					dendrite morphogenesis (GO:0048813)|embryonic hindgut morphogenesis (GO:0048619)|gastrulation with mouth forming second (GO:0001702)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of catenin import into nucleus (GO:0035412)|regulation of protein stability (GO:0031647)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|synapse organization (GO:0050808)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)			endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						CCTCTGCCCTACGCCAGCCCC	0.672													A|||	1	0.000199681	0.0008	0.0	5008	,	,		1222	0.0		0.0	False		,,,				2504	0.0																0								A	CYS/TYR,CYS/TYR	1,4405	2.1+/-5.4	0,1,2202	33.0	36.0	35.0		2027,2138	3.1	0.1	14		35	0,8600		0,0,4300	no	missense,missense	DACT1	NM_001079520.1,NM_016651.5	194,194	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	probably-damaging,probably-damaging	676/800,713/837	59113479	1,13005	2203	4300	6503	SO:0001583	missense	51339			AF251079	CCDS9736.1, CCDS41961.1	14q22.3	2013-05-15	2013-05-15		ENSG00000165617	ENSG00000165617			17748	protein-coding gene	gene with protein product		607861	"""dapper homolog 1, antagonist of beta-catenin (xenopus)"", ""dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis)"""			11970895	Standard	NM_001079520		Approved	DAPPER1, THYEX3, HDPR1, DAPPER, FRODO	uc001xdw.3	Q9NYF0	OTTHUMG00000140324	ENST00000335867.4:c.2138A>G	14.37:g.59113479A>G	ENSP00000337439:p.Tyr713Cys		A8MYJ2|Q86TY0	Missense_Mutation	SNP	NULL	p.Y713C	ENST00000335867.4	37	c.2138	CCDS9736.1	14	.	.	.	.	.	.	.	.	.	.	A	11.22	1.574573	0.28092	2.27E-4	0.0	ENSG00000165617	ENST00000556859;ENST00000395151;ENST00000395153;ENST00000335867;ENST00000541264	T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78	5.63	3.08	0.35506	.	0.484672	0.21597	N	0.072013	T	0.59059	0.2166	M	0.68317	2.08	0.18873	N	0.999986	D;D	0.76494	0.998;0.999	P;P	0.61592	0.891;0.891	T	0.49360	-0.8948	10	0.59425	D	0.04	-10.2123	8.4627	0.32938	0.7334:0.1364:0.0:0.1303	.	676;713	A8MYJ2;Q9NYF0	.;DACT1_HUMAN	C	432;432;676;713;432	ENSP00000451598:Y432C;ENSP00000378581:Y432C;ENSP00000378582:Y676C;ENSP00000337439:Y713C;ENSP00000442850:Y432C	ENSP00000337439:Y713C	Y	+	2	0	DACT1	58183232	0.050000	0.20438	0.051000	0.19133	0.167000	0.22549	1.476000	0.35420	0.926000	0.37118	0.460000	0.39030	TAC	DACT1	-	NULL		0.672	DACT1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DACT1	HGNC	protein_coding	OTTHUMT00000325515.1	A	NM_016651		59113479	+1	no_errors	ENST00000335867	ensembl	human	known	70_37	missense	SNP	0.012	G
DACT1	51339	genome.wustl.edu	37	14	59113479	59113479	+	Missense_Mutation	SNP	A	A	G	rs368345387		TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr14:59113479A>G	ENST00000335867.4	+	4	2162	c.2138A>G	c.(2137-2139)tAc>tGc	p.Y713C	DACT1_ENST00000395153.3_Missense_Mutation_p.Y676C|DACT1_ENST00000541264.2_Missense_Mutation_p.Y432C|DACT1_ENST00000556859.1_Missense_Mutation_p.Y432C			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	713					dendrite morphogenesis (GO:0048813)|embryonic hindgut morphogenesis (GO:0048619)|gastrulation with mouth forming second (GO:0001702)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of catenin import into nucleus (GO:0035412)|regulation of protein stability (GO:0031647)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|synapse organization (GO:0050808)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)			endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						CCTCTGCCCTACGCCAGCCCC	0.672													A|||	1	0.000199681	0.0008	0.0	5008	,	,		1222	0.0		0.0	False		,,,				2504	0.0																0								A	CYS/TYR,CYS/TYR	1,4405	2.1+/-5.4	0,1,2202	33.0	36.0	35.0		2027,2138	3.1	0.1	14		35	0,8600		0,0,4300	no	missense,missense	DACT1	NM_001079520.1,NM_016651.5	194,194	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	probably-damaging,probably-damaging	676/800,713/837	59113479	1,13005	2203	4300	6503	SO:0001583	missense	51339			AF251079	CCDS9736.1, CCDS41961.1	14q22.3	2013-05-15	2013-05-15		ENSG00000165617	ENSG00000165617			17748	protein-coding gene	gene with protein product		607861	"""dapper homolog 1, antagonist of beta-catenin (xenopus)"", ""dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis)"""			11970895	Standard	NM_001079520		Approved	DAPPER1, THYEX3, HDPR1, DAPPER, FRODO	uc001xdw.3	Q9NYF0	OTTHUMG00000140324	ENST00000335867.4:c.2138A>G	14.37:g.59113479A>G	ENSP00000337439:p.Tyr713Cys		A8MYJ2|Q86TY0	Missense_Mutation	SNP	NULL	p.Y713C	ENST00000335867.4	37	c.2138	CCDS9736.1	14	.	.	.	.	.	.	.	.	.	.	A	11.22	1.574573	0.28092	2.27E-4	0.0	ENSG00000165617	ENST00000556859;ENST00000395151;ENST00000395153;ENST00000335867;ENST00000541264	T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78	5.63	3.08	0.35506	.	0.484672	0.21597	N	0.072013	T	0.59059	0.2166	M	0.68317	2.08	0.18873	N	0.999986	D;D	0.76494	0.998;0.999	P;P	0.61592	0.891;0.891	T	0.49360	-0.8948	10	0.59425	D	0.04	-10.2123	8.4627	0.32938	0.7334:0.1364:0.0:0.1303	.	676;713	A8MYJ2;Q9NYF0	.;DACT1_HUMAN	C	432;432;676;713;432	ENSP00000451598:Y432C;ENSP00000378581:Y432C;ENSP00000378582:Y676C;ENSP00000337439:Y713C;ENSP00000442850:Y432C	ENSP00000337439:Y713C	Y	+	2	0	DACT1	58183232	0.050000	0.20438	0.051000	0.19133	0.167000	0.22549	1.476000	0.35420	0.926000	0.37118	0.460000	0.39030	TAC	DACT1	-	NULL		0.672	DACT1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DACT1	HGNC	protein_coding	OTTHUMT00000325515.1	A	NM_016651		59113479	+1	no_errors	ENST00000335867	ensembl	human	known	70_37	missense	SNP	0.012	G
DCHS1	8642	genome.wustl.edu	37	11	6650903	6650903	+	Splice_Site	SNP	C	C	A			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr11:6650903C>A	ENST00000299441.3	-	11	5446	c.5035G>T	c.(5035-5037)Ggg>Tgg	p.G1679W	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1679	Cadherin 16. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGGTCTTACCCACGTCGGGG	0.597																																																	0													29.0	28.0	28.0					11																	6650903		2200	4296	6496	SO:0001630	splice_region_variant	8642			AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.5035+1G>T	11.37:g.6650903C>A			O15098	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G1679W	ENST00000299441.3	37	c.5035	CCDS7771.1	11	.	.	.	.	.	.	.	.	.	.	C	14.36	2.512485	0.44660	.	.	ENSG00000166341	ENST00000299441	T	0.67523	-0.27	5.25	4.33	0.51752	Cadherin (4);Cadherin-like (1);	0.000000	0.49305	D	0.000146	D	0.87916	0.6298	H	0.97465	4.01	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92279	0.5832	9	.	.	.	.	15.0612	0.71955	0.0:0.8575:0.1425:0.0	.	1679	Q96JQ0	PCD16_HUMAN	W	1679	ENSP00000299441:G1679W	.	G	-	1	0	DCHS1	6607479	1.000000	0.71417	0.984000	0.44739	0.003000	0.03518	5.685000	0.68204	1.440000	0.47531	-0.302000	0.09304	GGG	DCHS1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.597	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS1	HGNC	protein_coding	OTTHUMT00000257258.1	C	NM_003737	Missense_Mutation	6650903	-1	no_errors	ENST00000299441	ensembl	human	known	70_37	missense	SNP	1.000	A
DISP1	84976	genome.wustl.edu	37	1	223116341	223116341	+	Missense_Mutation	SNP	A	A	G			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr1:223116341A>G	ENST00000284476.6	+	2	340	c.176A>G	c.(175-177)aAt>aGt	p.N59S	DISP1_ENST00000360254.2_Missense_Mutation_p.N59S|DISP1_ENST00000495684.1_Intron	NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	59					determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		CTGCAACTTAATGGCACGGTC	0.498																																																	0													227.0	197.0	207.0					1																	223116341		2203	4300	6503	SO:0001583	missense	84976			AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.176A>G	1.37:g.223116341A>G	ENSP00000284476:p.Asn59Ser		Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Missense_Mutation	SNP	pfam_Patched,pfam_MMPL-typ,pfscan_SSD	p.N59S	ENST00000284476.6	37	c.176	CCDS1536.1	1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.196496	0.79015	.	.	ENSG00000154309	ENST00000360254;ENST00000284476	T;D	0.94376	0.28;-3.41	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.95601	0.8570	M	0.69823	2.125	0.41401	D	0.987674	D	0.67145	0.996	P	0.60415	0.874	D	0.95664	0.8718	10	0.51188	T	0.08	-26.0336	15.8071	0.78524	1.0:0.0:0.0:0.0	.	59	Q96F81	DISP1_HUMAN	S	59	ENSP00000355848:N59S;ENSP00000284476:N59S	ENSP00000284476:N59S	N	+	2	0	DISP1	221182964	1.000000	0.71417	0.977000	0.42913	0.976000	0.68499	6.778000	0.75043	2.142000	0.66516	0.528000	0.53228	AAT	DISP1	-	NULL		0.498	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	DISP1	HGNC	protein_coding	OTTHUMT00000092512.1	A	NM_032890		223116341	+1	no_errors	ENST00000284476	ensembl	human	known	70_37	missense	SNP	1.000	G
DISP1	84976	genome.wustl.edu	37	1	223116341	223116341	+	Missense_Mutation	SNP	A	A	G			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr1:223116341A>G	ENST00000284476.6	+	2	340	c.176A>G	c.(175-177)aAt>aGt	p.N59S	DISP1_ENST00000360254.2_Missense_Mutation_p.N59S|DISP1_ENST00000495684.1_Intron	NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	59					determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		CTGCAACTTAATGGCACGGTC	0.498																																																	0													227.0	197.0	207.0					1																	223116341		2203	4300	6503	SO:0001583	missense	84976			AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.176A>G	1.37:g.223116341A>G	ENSP00000284476:p.Asn59Ser		Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Missense_Mutation	SNP	pfam_Patched,pfam_MMPL-typ,pfscan_SSD	p.N59S	ENST00000284476.6	37	c.176	CCDS1536.1	1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.196496	0.79015	.	.	ENSG00000154309	ENST00000360254;ENST00000284476	T;D	0.94376	0.28;-3.41	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.95601	0.8570	M	0.69823	2.125	0.41401	D	0.987674	D	0.67145	0.996	P	0.60415	0.874	D	0.95664	0.8718	10	0.51188	T	0.08	-26.0336	15.8071	0.78524	1.0:0.0:0.0:0.0	.	59	Q96F81	DISP1_HUMAN	S	59	ENSP00000355848:N59S;ENSP00000284476:N59S	ENSP00000284476:N59S	N	+	2	0	DISP1	221182964	1.000000	0.71417	0.977000	0.42913	0.976000	0.68499	6.778000	0.75043	2.142000	0.66516	0.528000	0.53228	AAT	DISP1	-	NULL		0.498	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	DISP1	HGNC	protein_coding	OTTHUMT00000092512.1	A	NM_032890		223116341	+1	no_errors	ENST00000284476	ensembl	human	known	70_37	missense	SNP	1.000	G
DKFZp434L192	222029	genome.wustl.edu	37	7	56564622	56564622	+	lincRNA	SNP	C	C	T			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr7:56564622C>T	ENST00000566570.1	+	0	3806					NR_026929.1																						TGGCTGGGCCCTGACAACAGT	0.572																																																	0																																												222029																															7.37:g.56564622C>T				RNA	SNP	-	NULL	ENST00000566570.1	37	NULL		7																																																																																			RP11-760D2.11	-	-		0.572	RP11-760D2.11-001	KNOWN	basic	lincRNA	DKFZp434L192	Clone_based_vega_gene	lincRNA	OTTHUMT00000422602.1	C			56564622	+1	no_errors	ENST00000566570	ensembl	human	known	70_37	rna	SNP	0.024	T
DMC1	11144	genome.wustl.edu	37	22	38966095	38966095	+	5'UTR	SNP	C	C	T	rs541409938	byFrequency	TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr22:38966095C>T	ENST00000216024.2	-	0	196				DMC1_ENST00000428462.2_5'Flank|DMC1_ENST00000464842.1_5'UTR	NM_007068.2	NP_008999.2	Q14565	DMC1_HUMAN	DNA meiotic recombinase 1						female gamete generation (GO:0007292)|male meiosis I (GO:0007141)|meiotic nuclear division (GO:0007126)|oocyte maturation (GO:0001556)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	chromosome (GO:0005694)|chromosome, telomeric region (GO:0000781)|condensed nuclear chromosome (GO:0000794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)			large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11	Melanoma(58;0.0286)					TGAAGCCCCTCTGCCCCGCCC	0.607								Homologous recombination					C|||	2	0.000399361	0.0	0.0	5008	,	,		9636	0.0		0.0	False		,,,				2504	0.002																0																																										SO:0001623	5_prime_UTR_variant	11144			D63882	CCDS13973.1, CCDS63477.1	22q13.1	2013-05-02	2013-05-02		ENSG00000100206	ENSG00000100206			2927	protein-coding gene	gene with protein product		602721	"""DMC1 (dosage suppressor of mck1, yeast homolog) meiosis-specific homologous recombination"", ""DMC1 dosage suppressor of mck1 homolog, meiosis-specific homologous recombination (yeast)"""			8602360, 8590282, 17541404	Standard	NM_007068		Approved	LIM15	uc003avz.2	Q14565	OTTHUMG00000151088	ENST00000216024.2:c.-81G>A	22.37:g.38966095C>T			A8K9A2|B4DMW6|Q08AI1|Q99498|Q9UH11	RNA	SNP	-	NULL	ENST00000216024.2	37	NULL	CCDS13973.1	22																																																																																			DMC1	-	-		0.607	DMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMC1	HGNC	protein_coding	OTTHUMT00000321246.2	C	NM_007068		38966095	-1	no_errors	ENST00000464842	ensembl	human	known	70_37	rna	SNP	0.002	T
DNAH10	196385	genome.wustl.edu	37	12	124333419	124333419	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr12:124333419C>A	ENST00000409039.3	+	33	5763	c.5738C>A	c.(5737-5739)aCc>aAc	p.T1913N		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1913	AAA 1. {ECO:0000250}.				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)		CATCAGTTAACCACGTTCCAG	0.517																																																	0													85.0	84.0	84.0					12																	124333419		2106	4247	6353	SO:0001583	missense	196385			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.5738C>A	12.37:g.124333419C>A	ENSP00000386770:p.Thr1913Asn		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_PyrdxlP-dep_Trfase_major_dom,smart_AAA+_ATPase	p.T1913N	ENST00000409039.3	37	c.5738	CCDS9255.2	12	.	.	.	.	.	.	.	.	.	.	C	14.15	2.449478	0.43531	.	.	ENSG00000197653	ENST00000409039	T	0.09163	3.01	5.84	5.84	0.93424	ATPase, AAA+ type, core (1);	0.451773	0.21078	U	0.080540	T	0.12390	0.0301	L	0.33710	1.025	0.34933	D	0.749506	B	0.23249	0.082	B	0.32022	0.139	T	0.11036	-1.0604	10	0.51188	T	0.08	.	14.4755	0.67544	0.2634:0.7366:0.0:0.0	.	1913	Q8IVF4	DYH10_HUMAN	N	1913	ENSP00000386770:T1913N	ENSP00000386770:T1913N	T	+	2	0	DNAH10	122899372	1.000000	0.71417	0.974000	0.42286	0.968000	0.65278	4.437000	0.59955	2.767000	0.95098	0.561000	0.74099	ACC	DNAH10	-	smart_AAA+_ATPase		0.517	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH10	HGNC	protein_coding	OTTHUMT00000335420.3	C			124333419	+1	no_errors	ENST00000409039	ensembl	human	known	70_37	missense	SNP	1.000	A
DNAH10	196385	genome.wustl.edu	37	12	124333419	124333419	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr12:124333419C>A	ENST00000409039.3	+	33	5763	c.5738C>A	c.(5737-5739)aCc>aAc	p.T1913N		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1913	AAA 1. {ECO:0000250}.				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)		CATCAGTTAACCACGTTCCAG	0.517																																																	0													85.0	84.0	84.0					12																	124333419		2106	4247	6353	SO:0001583	missense	196385			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.5738C>A	12.37:g.124333419C>A	ENSP00000386770:p.Thr1913Asn		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_PyrdxlP-dep_Trfase_major_dom,smart_AAA+_ATPase	p.T1913N	ENST00000409039.3	37	c.5738	CCDS9255.2	12	.	.	.	.	.	.	.	.	.	.	C	14.15	2.449478	0.43531	.	.	ENSG00000197653	ENST00000409039	T	0.09163	3.01	5.84	5.84	0.93424	ATPase, AAA+ type, core (1);	0.451773	0.21078	U	0.080540	T	0.12390	0.0301	L	0.33710	1.025	0.34933	D	0.749506	B	0.23249	0.082	B	0.32022	0.139	T	0.11036	-1.0604	10	0.51188	T	0.08	.	14.4755	0.67544	0.2634:0.7366:0.0:0.0	.	1913	Q8IVF4	DYH10_HUMAN	N	1913	ENSP00000386770:T1913N	ENSP00000386770:T1913N	T	+	2	0	DNAH10	122899372	1.000000	0.71417	0.974000	0.42286	0.968000	0.65278	4.437000	0.59955	2.767000	0.95098	0.561000	0.74099	ACC	DNAH10	-	smart_AAA+_ATPase		0.517	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH10	HGNC	protein_coding	OTTHUMT00000335420.3	C			124333419	+1	no_errors	ENST00000409039	ensembl	human	known	70_37	missense	SNP	1.000	A
DNAH2	146754	genome.wustl.edu	37	17	7721995	7721995	+	Missense_Mutation	SNP	G	G	T	rs116984006	byFrequency	TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr17:7721995G>T	ENST00000572933.1	+	70	12031	c.10571G>T	c.(10570-10572)cGg>cTg	p.R3524L	DNAH2_ENST00000389173.2_Missense_Mutation_p.R3524L			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3524	AAA 5. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ATTGTGGTGCGGAAGGAGCGG	0.597																																																	0													113.0	103.0	106.0					17																	7721995		2203	4300	6503	SO:0001583	missense	146754			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.10571G>T	17.37:g.7721995G>T	ENSP00000458355:p.Arg3524Leu		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,smart_AAA+_ATPase	p.R3524L	ENST00000572933.1	37	c.10571	CCDS32551.1	17	.	.	.	.	.	.	.	.	.	.	G	20.1	3.941002	0.73557	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.21361	2.01	4.34	3.36	0.38483	.	0.000000	0.64402	D	0.000001	T	0.30293	0.0760	L	0.49571	1.57	0.80722	D	1	P;D	0.53312	0.893;0.959	P;P	0.55161	0.66;0.77	T	0.02352	-1.1172	10	0.22706	T	0.39	.	13.1096	0.59267	0.0:0.1628:0.8372:0.0	.	3485;3524	Q9P225-2;Q9P225	.;DYH2_HUMAN	L	3485;3524	ENSP00000373825:R3524L	ENSP00000353818:R3485L	R	+	2	0	DNAH2	7662720	0.817000	0.29147	0.827000	0.32855	0.831000	0.47069	2.843000	0.48238	1.010000	0.39314	0.563000	0.77884	CGG	DNAH2	-	NULL		0.597	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH2	HGNC	protein_coding	OTTHUMT00000440241.1	G	NM_020877		7721995	+1	no_errors	ENST00000389173	ensembl	human	known	70_37	missense	SNP	0.705	T
DNAI2	64446	genome.wustl.edu	37	17	72308359	72308359	+	Missense_Mutation	SNP	C	C	T	rs373090022	byFrequency	TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr17:72308359C>T	ENST00000311014.6	+	12	1779	c.1712C>T	c.(1711-1713)aCg>aTg	p.T571M	DNAI2_ENST00000579490.1_Missense_Mutation_p.T628M|DNAI2_ENST00000307504.5_Intron|DNAI2_ENST00000446837.2_Missense_Mutation_p.T571M|RP11-647F2.2_ENST00000585167.1_RNA|DNAI2_ENST00000582036.1_Missense_Mutation_p.T559M			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	571					cilium assembly (GO:0042384)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						ATAAAGCTGACGCCAGTGCCT	0.612									Kartagener syndrome				C|||	3	0.000599042	0.0	0.0	5008	,	,		15531	0.0		0.0	False		,,,				2504	0.0031																0								C	MET/THR,MET/THR	0,4404		0,0,2202	33.0	26.0	28.0		1676,1712	2.5	0.2	17		28	1,8597		0,1,4298	no	missense,missense	DNAI2	NM_001172810.1,NM_023036.4	81,81	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	559/594,571/606	72308359	1,13001	2202	4299	6501	SO:0001583	missense	64446	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AF250288	CCDS11697.1, CCDS58589.1	17q25	2013-02-19	2006-09-04			ENSG00000171595		"""Axonemal dyneins"", ""WD repeat domain containing"""	18744	protein-coding gene	gene with protein product	"""dynein intermediate chain 2"""	605483	"""dynein, axonemal, intermediate polypeptide 2"""			11153919, 21953912	Standard	NM_023036		Approved	CILD9, DIC2	uc002jkf.3	Q9GZS0		ENST00000311014.6:c.1712C>T	17.37:g.72308359C>T	ENSP00000308312:p.Thr571Met		C9J0S6|Q8IUW4|Q9H179|Q9NT53	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.T571M	ENST00000311014.6	37	c.1712	CCDS11697.1	17	.	.	.	.	.	.	.	.	.	.	C	2.427	-0.331760	0.05314	0.0	1.16E-4	ENSG00000171595	ENST00000311014;ENST00000446837	T;T	0.66460	-0.21;-0.21	4.71	2.45	0.29901	.	2.794930	0.01504	N	0.017633	T	0.49287	0.1548	N	0.22421	0.69	0.09310	N	1	P	0.34892	0.474	B	0.23018	0.043	T	0.45804	-0.9236	10	0.48119	T	0.1	0.8194	4.3621	0.11208	0.6837:0.2105:0.1057:0.0	.	571	Q9GZS0	DNAI2_HUMAN	M	571	ENSP00000308312:T571M;ENSP00000400252:T571M	ENSP00000308312:T571M	T	+	2	0	DNAI2	69819954	0.393000	0.25237	0.169000	0.22859	0.011000	0.07611	0.880000	0.28159	0.676000	0.31285	-0.425000	0.05940	ACG	DNAI2	-	NULL		0.612	DNAI2-001	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	DNAI2	HGNC	protein_coding	OTTHUMT00000442537.1	C	NM_023036		72308359	+1	no_errors	ENST00000311014	ensembl	human	known	70_37	missense	SNP	0.028	T
DOCK5	80005	genome.wustl.edu	37	8	25198414	25198414	+	Missense_Mutation	SNP	T	T	A	rs377089070		TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr8:25198414T>A	ENST00000276440.7	+	23	2393	c.2349T>A	c.(2347-2349)gaT>gaA	p.D783E		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	783					positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		AGAGCAAAGATGGAGATGAGT	0.388																																					Pancreas(145;34 1887 3271 10937 30165)												0								T	GLU/ASP	0,4406		0,0,2203	98.0	97.0	97.0		2349	-0.1	1.0	8		97	1,8599	1.2+/-3.3	0,1,4299	no	missense	DOCK5	NM_024940.6	45	0,1,6502	AA,AT,TT		0.0116,0.0,0.0077	benign	783/1871	25198414	1,13005	2203	4300	6503	SO:0001583	missense	80005				CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.2349T>A	8.37:g.25198414T>A	ENSP00000276440:p.Asp783Glu		B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain	p.D783E	ENST00000276440.7	37	c.2349	CCDS6047.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	8.739|8.739	0.918577|0.918577	0.17982|0.17982	0.0|0.0	1.16E-4|1.16E-4	ENSG00000147459|ENSG00000147459	ENST00000276440|ENST00000444569	T|.	0.74315|.	-0.83|.	4.99|4.99	-0.137|-0.137	0.13469|0.13469	Armadillo-type fold (1);|.	0.052797|.	0.64402|.	D|.	0.000001|.	T|T	0.28995|0.28995	0.0720|0.0720	N|N	0.11341|0.11341	0.13|0.13	0.47862|0.47862	D|D	0.999534|0.999534	B;B;B|.	0.16802|.	0.008;0.001;0.019|.	B;B;B|.	0.17979|.	0.013;0.002;0.02|.	T|T	0.03981|0.03981	-1.0987|-1.0987	10|5	0.06365|.	T|.	0.9|.	.|.	5.2697|5.2697	0.15618|0.15618	0.1333:0.3613:0.0:0.5053|0.1333:0.3613:0.0:0.5053	.|.	773;558;783|.	D3DSS6;Q68DL4;Q9H7D0|.	.;.;DOCK5_HUMAN|.	E|R	783|555	ENSP00000276440:D783E|.	ENSP00000276440:D783E|.	D|W	+|+	3|1	2|0	DOCK5|DOCK5	25254331|25254331	0.846000|0.846000	0.29590|0.29590	0.997000|0.997000	0.53966|0.53966	0.870000|0.870000	0.49936|0.49936	-0.074000|-0.074000	0.11450|0.11450	-0.162000|-0.162000	0.10964|0.10964	0.528000|0.528000	0.53228|0.53228	GAT|TGG	DOCK5	-	superfamily_ARM-type_fold		0.388	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK5	HGNC	protein_coding	OTTHUMT00000254955.2	T	NM_024940		25198414	+1	no_errors	ENST00000276440	ensembl	human	known	70_37	missense	SNP	0.987	A
DSCR3	10311	genome.wustl.edu	37	21	38593057	38593057	+	IGR	SNP	G	G	T			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr21:38593057G>T	ENST00000309117.6	-	0	3256				DSCR3_ENST00000399000.3_5'Flank|AP001432.14_ENST00000440629.1_lincRNA|DSCR9_ENST00000454482.2_lincRNA	NM_006052.1	NP_006043.1	O14972	DSCR3_HUMAN	Down syndrome critical region gene 3							nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9						CCTCCGTAGCGGGAGGCTCTG	0.647											OREG0026204	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001628	intergenic_variant	257203			D87343	CCDS33553.1	21q22.2	2008-05-22			ENSG00000157538	ENSG00000157538			3044	protein-coding gene	gene with protein product		605298				9399594	Standard	NM_006052		Approved	DCRA	uc002ywf.1	O14972	OTTHUMG00000086659		21.37:g.38593057G>T		879	B2R6T8|B7Z6B1|D3DSH4|Q2TAY6	RNA	SNP	-	NULL	ENST00000309117.6	37	NULL	CCDS33553.1	21																																																																																			DSCR9	-	-		0.647	DSCR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCR9	HGNC	protein_coding	OTTHUMT00000194807.1	G			38593057	+1	no_errors	ENST00000454482	ensembl	human	known	70_37	rna	SNP	0.000	T
ELMO1	9844	genome.wustl.edu	37	7	36910022	36910022	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr7:36910022C>G	ENST00000310758.4	-	20	2528	c.1881G>C	c.(1879-1881)gaG>gaC	p.E627D	ELMO1_ENST00000396040.2_Missense_Mutation_p.E147D|ELMO1_ENST00000442504.1_Missense_Mutation_p.E627D|ELMO1_ENST00000396045.3_Missense_Mutation_p.E147D|ELMO1_ENST00000341056.3_Missense_Mutation_p.E329D|ELMO1_ENST00000448602.1_Missense_Mutation_p.E627D	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	627	PH.				actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						GGGCACCTTTCTCTTTCATAT	0.458																																																	0													184.0	165.0	172.0					7																	36910022		2203	4300	6503	SO:0001583	missense	9844			AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"""Engulfment and cell motility proteins"""	16286	protein-coding gene	gene with protein product		606420	"""engulfment and cell motility 1 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.1881G>C	7.37:g.36910022C>G	ENSP00000312185:p.Glu627Asp		A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Missense_Mutation	SNP	pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold	p.E627D	ENST00000310758.4	37	c.1881	CCDS5449.1	7	.	.	.	.	.	.	.	.	.	.	C	14.55	2.568097	0.45798	.	.	ENSG00000155849	ENST00000341056;ENST00000396045;ENST00000310758;ENST00000361912;ENST00000396040;ENST00000442504;ENST00000448602	T;T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62;0.62	5.41	3.57	0.40892	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.000000	0.85682	D	0.000000	T	0.41373	0.1156	L	0.55017	1.72	0.54753	D	0.999981	B	0.16802	0.019	B	0.14023	0.01	T	0.28776	-1.0033	10	0.24483	T	0.36	.	12.6213	0.56605	0.0:0.8581:0.0:0.1419	.	627	Q92556	ELMO1_HUMAN	D	329;147;627;531;147;627;627	ENSP00000342142:E329D;ENSP00000379360:E147D;ENSP00000312185:E627D;ENSP00000379355:E147D;ENSP00000406952:E627D;ENSP00000394458:E627D	ENSP00000312185:E627D	E	-	3	2	ELMO1	36876547	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.913000	0.28611	1.431000	0.47355	0.655000	0.94253	GAG	ELMO1	-	NULL		0.458	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELMO1	HGNC	protein_coding	OTTHUMT00000219830.4	C	NM_130442		36910022	-1	no_errors	ENST00000310758	ensembl	human	known	70_37	missense	SNP	1.000	G
ELMO1	9844	genome.wustl.edu	37	7	36910022	36910022	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr7:36910022C>G	ENST00000310758.4	-	20	2528	c.1881G>C	c.(1879-1881)gaG>gaC	p.E627D	ELMO1_ENST00000396040.2_Missense_Mutation_p.E147D|ELMO1_ENST00000442504.1_Missense_Mutation_p.E627D|ELMO1_ENST00000396045.3_Missense_Mutation_p.E147D|ELMO1_ENST00000341056.3_Missense_Mutation_p.E329D|ELMO1_ENST00000448602.1_Missense_Mutation_p.E627D	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	627	PH.				actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						GGGCACCTTTCTCTTTCATAT	0.458																																																	0													184.0	165.0	172.0					7																	36910022		2203	4300	6503	SO:0001583	missense	9844			AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"""Engulfment and cell motility proteins"""	16286	protein-coding gene	gene with protein product		606420	"""engulfment and cell motility 1 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.1881G>C	7.37:g.36910022C>G	ENSP00000312185:p.Glu627Asp		A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Missense_Mutation	SNP	pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold	p.E627D	ENST00000310758.4	37	c.1881	CCDS5449.1	7	.	.	.	.	.	.	.	.	.	.	C	14.55	2.568097	0.45798	.	.	ENSG00000155849	ENST00000341056;ENST00000396045;ENST00000310758;ENST00000361912;ENST00000396040;ENST00000442504;ENST00000448602	T;T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62;0.62	5.41	3.57	0.40892	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.000000	0.85682	D	0.000000	T	0.41373	0.1156	L	0.55017	1.72	0.54753	D	0.999981	B	0.16802	0.019	B	0.14023	0.01	T	0.28776	-1.0033	10	0.24483	T	0.36	.	12.6213	0.56605	0.0:0.8581:0.0:0.1419	.	627	Q92556	ELMO1_HUMAN	D	329;147;627;531;147;627;627	ENSP00000342142:E329D;ENSP00000379360:E147D;ENSP00000312185:E627D;ENSP00000379355:E147D;ENSP00000406952:E627D;ENSP00000394458:E627D	ENSP00000312185:E627D	E	-	3	2	ELMO1	36876547	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.913000	0.28611	1.431000	0.47355	0.655000	0.94253	GAG	ELMO1	-	NULL		0.458	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELMO1	HGNC	protein_coding	OTTHUMT00000219830.4	C	NM_130442		36910022	-1	no_errors	ENST00000310758	ensembl	human	known	70_37	missense	SNP	1.000	G
LOC101929762	101929762	genome.wustl.edu	37	4	120115434	120115434	+	5'UTR	SNP	C	C	A			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr4:120115434C>A	ENST00000515843.1	-	0	406				RP11-455G16.1_ENST00000326780.3_3'UTR																							TTAATCCTACCTATGTAAAAT	0.368																																																	0																																										SO:0001623	5_prime_UTR_variant	0																														ENST00000515843.1:c.-592G>T	4.37:g.120115434C>A				RNA	SNP	-	NULL	ENST00000515843.1	37	NULL		4																																																																																			RP11-455G16.1	-	-		0.368	RP11-455G16.1-002	KNOWN	basic	processed_transcript	ENSG00000178636	Clone_based_vega_gene	protein_coding	OTTHUMT00000364581.1	C			120115434	-1	no_errors	ENST00000515843	ensembl	human	known	70_37	rna	SNP	0.006	A
ELMOD2	255520	genome.wustl.edu	37	4	141446613	141446614	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr4:141446613_141446614GG>TT	ENST00000323570.3	+	2	163_164	c.31_32GG>TT	c.(31-33)GGg>TTg	p.G11L	ELMOD2_ENST00000511887.2_Missense_Mutation_p.G11L	NM_153702.3	NP_714913.1	Q8IZ81	ELMD2_HUMAN	ELMO/CED-12 domain containing 2	11					defense response to virus (GO:0051607)|phagocytosis (GO:0006909)|positive regulation of GTPase activity (GO:0043547)|regulation of defense response to virus (GO:0050688)	cytoskeleton (GO:0005856)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	7	all_hematologic(180;0.162)					GTTCTTCTATGGGCACTTTTTT	0.351																																																	0																																										SO:0001583	missense	255520			BX648349	CCDS3752.1	4q31.1	2006-10-24	2006-01-20		ENSG00000179387	ENSG00000179387			28111	protein-coding gene	gene with protein product		610196	"""ELMO domain containing 2"""			16773575	Standard	NM_153702		Approved	MGC10084	uc003iik.3	Q8IZ81	OTTHUMG00000133417	Exception_encountered	4.37:g.141446613_141446614delinsTT	ENSP00000326342:p.Gly11Leu		B2R712|D3DNZ0	Missense_Mutation	SNP	pfam_Engulfment_cell_motility_ELMO	p.G11W|p.G11V	ENST00000323570.3	37	c.31|c.32	CCDS3752.1	4																																																																																			ELMOD2	-	NULL		0.351	ELMOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELMOD2	HGNC	protein_coding	OTTHUMT00000257277.2	G	NM_153702		141446613|141446614	+1	no_errors	ENST00000323570	ensembl	human	known	70_37	missense	SNP	1.000|0.999	T
ELMOD2	255520	genome.wustl.edu	37	4	141446613	141446614	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr4:141446613_141446614GG>TT	ENST00000323570.3	+	2	163_164	c.31_32GG>TT	c.(31-33)GGg>TTg	p.G11L	ELMOD2_ENST00000511887.2_Missense_Mutation_p.G11L	NM_153702.3	NP_714913.1	Q8IZ81	ELMD2_HUMAN	ELMO/CED-12 domain containing 2	11					defense response to virus (GO:0051607)|phagocytosis (GO:0006909)|positive regulation of GTPase activity (GO:0043547)|regulation of defense response to virus (GO:0050688)	cytoskeleton (GO:0005856)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	7	all_hematologic(180;0.162)					GTTCTTCTATGGGCACTTTTTT	0.351																																																	0																																										SO:0001583	missense	255520			BX648349	CCDS3752.1	4q31.1	2006-10-24	2006-01-20		ENSG00000179387	ENSG00000179387			28111	protein-coding gene	gene with protein product		610196	"""ELMO domain containing 2"""			16773575	Standard	NM_153702		Approved	MGC10084	uc003iik.3	Q8IZ81	OTTHUMG00000133417	Exception_encountered	4.37:g.141446613_141446614delinsTT	ENSP00000326342:p.Gly11Leu		B2R712|D3DNZ0	Missense_Mutation	SNP	pfam_Engulfment_cell_motility_ELMO	p.G11W|p.G11V	ENST00000323570.3	37	c.31|c.32	CCDS3752.1	4																																																																																			ELMOD2	-	NULL		0.351	ELMOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELMOD2	HGNC	protein_coding	OTTHUMT00000257277.2	G	NM_153702		141446613|141446614	+1	no_errors	ENST00000323570	ensembl	human	known	70_37	missense	SNP	1.000|0.999	T
ELMOD2	255520	genome.wustl.edu	37	4	141446613	141446614	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr4:141446613_141446614GG>TT	ENST00000323570.3	+	2	163_164	c.31_32GG>TT	c.(31-33)GGg>TTg	p.G11L	ELMOD2_ENST00000511887.2_Missense_Mutation_p.G11L	NM_153702.3	NP_714913.1	Q8IZ81	ELMD2_HUMAN	ELMO/CED-12 domain containing 2	11					defense response to virus (GO:0051607)|phagocytosis (GO:0006909)|positive regulation of GTPase activity (GO:0043547)|regulation of defense response to virus (GO:0050688)	cytoskeleton (GO:0005856)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	7	all_hematologic(180;0.162)					GTTCTTCTATGGGCACTTTTTT	0.351																																																	0																																										SO:0001583	missense	255520			BX648349	CCDS3752.1	4q31.1	2006-10-24	2006-01-20		ENSG00000179387	ENSG00000179387			28111	protein-coding gene	gene with protein product		610196	"""ELMO domain containing 2"""			16773575	Standard	NM_153702		Approved	MGC10084	uc003iik.3	Q8IZ81	OTTHUMG00000133417	Exception_encountered	4.37:g.141446613_141446614delinsTT	ENSP00000326342:p.Gly11Leu		B2R712|D3DNZ0	Missense_Mutation	SNP	pfam_Engulfment_cell_motility_ELMO	p.G11W|p.G11V	ENST00000323570.3	37	c.31|c.32	CCDS3752.1	4																																																																																			ELMOD2	-	NULL		0.351	ELMOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELMOD2	HGNC	protein_coding	OTTHUMT00000257277.2	G	NM_153702		141446613|141446614	+1	no_errors	ENST00000323570	ensembl	human	known	70_37	missense	SNP	1.000|0.999	T
ELMOD2	255520	genome.wustl.edu	37	4	141446613	141446614	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr4:141446613_141446614GG>TT	ENST00000323570.3	+	2	163_164	c.31_32GG>TT	c.(31-33)GGg>TTg	p.G11L	ELMOD2_ENST00000511887.2_Missense_Mutation_p.G11L	NM_153702.3	NP_714913.1	Q8IZ81	ELMD2_HUMAN	ELMO/CED-12 domain containing 2	11					defense response to virus (GO:0051607)|phagocytosis (GO:0006909)|positive regulation of GTPase activity (GO:0043547)|regulation of defense response to virus (GO:0050688)	cytoskeleton (GO:0005856)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	7	all_hematologic(180;0.162)					GTTCTTCTATGGGCACTTTTTT	0.351																																																	0																																										SO:0001583	missense	255520			BX648349	CCDS3752.1	4q31.1	2006-10-24	2006-01-20		ENSG00000179387	ENSG00000179387			28111	protein-coding gene	gene with protein product		610196	"""ELMO domain containing 2"""			16773575	Standard	NM_153702		Approved	MGC10084	uc003iik.3	Q8IZ81	OTTHUMG00000133417	Exception_encountered	4.37:g.141446613_141446614delinsTT	ENSP00000326342:p.Gly11Leu		B2R712|D3DNZ0	Missense_Mutation	SNP	pfam_Engulfment_cell_motility_ELMO	p.G11W|p.G11V	ENST00000323570.3	37	c.31|c.32	CCDS3752.1	4																																																																																			ELMOD2	-	NULL		0.351	ELMOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELMOD2	HGNC	protein_coding	OTTHUMT00000257277.2	G	NM_153702		141446613|141446614	+1	no_errors	ENST00000323570	ensembl	human	known	70_37	missense	SNP	1.000|0.999	T
RN7SKP294	106479226	genome.wustl.edu	37	8	50242806	50242806	+	RNA	SNP	C	C	A			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr8:50242806C>A	ENST00000362770.1	+	0	38									RNA, 7SK small nuclear pseudogene 294																		tctgtcaccccattgatcgcc	0.502																																																	0																																												0					8q11.21	2013-03-19			ENSG00000199640	ENSG00000199640			46018	pseudogene	RNA, pseudogene							Standard			Approved						8.37:g.50242806C>A				RNA	SNP	-	NULL	ENST00000362770.1	37	NULL		8																																																																																			7SK	-	-		0.502	RN7SKP294-201	KNOWN	basic	misc_RNA	ENSG00000199640	RFAM	misc_RNA		C			50242806	+1	no_errors	ENST00000362770	ensembl	human	novel	70_37	rna	SNP	0.005	A
EPS15	2060	genome.wustl.edu	37	1	51848045	51848045	+	Intron	SNP	T	T	C			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr1:51848045T>C	ENST00000371733.3	-	21	2216				EPS15_ENST00000371730.2_Intron|EPS15_ENST00000396122.4_Intron|RNU6-877P_ENST00000383868.1_RNA	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15						cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|protein transport (GO:0015031)|vesicle organization (GO:0016050)	AP-2 adaptor complex (GO:0030122)|ciliary membrane (GO:0060170)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|polyubiquitin binding (GO:0031593)	p.0?(2)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						atggcccctgtgcaaggataa	0.383			T	MLL	ALL																																			Dom	yes		1	1p32	2060	epidermal growth factor receptor pathway substrate 15 (AF1p)		L	2	Whole gene deletion(2)	thyroid(1)|central_nervous_system(1)																																								SO:0001627	intron_variant	0			BC054006	CCDS557.1	1p32	2013-01-10			ENSG00000085832	ENSG00000085832		"""EF-hand domain containing"""	3419	protein-coding gene	gene with protein product		600051				8183552	Standard	NM_001159969		Approved	AF-1P, MLLT5	uc001csq.1	P42566	OTTHUMG00000008192	ENST00000371733.3:c.2119+12007A>G	1.37:g.51848045T>C			B2R8J7|D3DPJ2|Q5SRH4	RNA	SNP	-	NULL	ENST00000371733.3	37	NULL	CCDS557.1	1																																																																																			U6	-	-		0.383	EPS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000206595	RFAM	protein_coding	OTTHUMT00000022422.1	T	NM_001981		51848045	+1	no_errors	ENST00000383868	ensembl	human	novel	70_37	rna	SNP	0.028	C
MT-ND1	4535	genome.wustl.edu	37	M	824	824	+	5'Flank	SNP	T	T	C			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chrM:824T>C	ENST00000361390.2	+	0	0				MT-TV_ENST00000387342.1_RNA|MT-RNR1_ENST00000389680.2_RNA|MT-TL1_ENST00000386347.1_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TF_ENST00000387314.1_RNA			P03886	NU1M_HUMAN	mitochondrially encoded NADH dehydrogenase 1						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|endometrium(13)|kidney(17)|lung(2)|prostate(1)	34					Desflurane(DB01189)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	AAACAGCAGTGATTAACCTTT	0.488																																																	0																																										SO:0001631	upstream_gene_variant	0					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198888	ENSG00000198888	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7455	protein-coding gene	gene with protein product	"""complex I ND1 subunit"", ""NADH-ubiquinone oxidoreductase chain 1"""	516000	"""NADH dehydrogenase 1"""	MTND1			Standard			Approved	ND1, NAD1		P03886			M.37:g.824T>C	Exception_encountered		C0JKH6|Q37523	RNA	SNP	-	NULL	ENST00000361390.2	37	NULL		MT																																																																																			J01415.23	-	-		0.488	MT-ND1-201	KNOWN	basic|appris_principal	protein_coding	ENSG00000211459	Clone_based_ensembl_gene	protein_coding		T	YP_003024026		824	+1	no_errors	ENST00000389680	ensembl	human	known	70_37	rna	SNP	NULL	C
AL161723.1	0	genome.wustl.edu	37	X	89045426	89045426	+	RNA	SNP	C	C	A			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chrX:89045426C>A	ENST00000408078.1	+	0	93																											atacacacacctatatatata	0.234																																																	0																																												0																															X.37:g.89045426C>A				RNA	SNP	-	NULL	ENST00000408078.1	37	NULL		X																																																																																			AL161723.1	-	-		0.234	AL161723.1-201	NOVEL	basic	miRNA	ENSG00000221005	Clone_based_ensembl_gene	miRNA		C			89045426	+1	no_errors	ENST00000408078	ensembl	human	novel	70_37	rna	SNP	0.001	A
AC090954.1	0	genome.wustl.edu	37	3	15175921	15175921	+	RNA	SNP	G	G	T			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr3:15175921G>T	ENST00000408497.1	-	0	116																											TTGGTAGAAGGAGAAAAGATA	0.398																																																	0																																												0																															3.37:g.15175921G>T				RNA	SNP	-	NULL	ENST00000408497.1	37	NULL		3																																																																																			AC090954.1	-	-		0.398	AC090954.1-201	NOVEL	basic	miRNA	ENSG00000221424	Clone_based_ensembl_gene	miRNA		G			15175921	-1	no_errors	ENST00000408497	ensembl	human	novel	70_37	rna	SNP	0.122	T
AC090954.1	0	genome.wustl.edu	37	3	15175921	15175921	+	RNA	SNP	G	G	T			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr3:15175921G>T	ENST00000408497.1	-	0	116																											TTGGTAGAAGGAGAAAAGATA	0.398																																																	0																																												0																															3.37:g.15175921G>T				RNA	SNP	-	NULL	ENST00000408497.1	37	NULL		3																																																																																			AC090954.1	-	-		0.398	AC090954.1-201	NOVEL	basic	miRNA	ENSG00000221424	Clone_based_ensembl_gene	miRNA		G			15175921	-1	no_errors	ENST00000408497	ensembl	human	novel	70_37	rna	SNP	0.122	T
CCL3	6348	genome.wustl.edu	37	17	34416981	34416981	+	Intron	SNP	G	G	A			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr17:34416981G>A	ENST00000225245.5	-	2	156				AC069363.1_ENST00000441575.1_RNA|AC069363.1_ENST00000590992.1_RNA|AC069363.1_ENST00000592728.1_RNA	NM_002983.2	NP_002974.1	P10147	CCL3_HUMAN	chemokine (C-C motif) ligand 3						astrocyte cell migration (GO:0043615)|behavior (GO:0007610)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|cell activation (GO:0001775)|cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|cellular response to interferon-gamma (GO:0071346)|cellular response to interleukin-1 (GO:0071347)|cellular response to organic cyclic compound (GO:0071407)|cellular response to tumor necrosis factor (GO:0071356)|chemotaxis (GO:0006935)|cytoskeleton organization (GO:0007010)|eosinophil chemotaxis (GO:0048245)|eosinophil degranulation (GO:0043308)|exocytosis (GO:0006887)|granulocyte chemotaxis (GO:0071621)|inflammatory response (GO:0006954)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|lymphocyte chemotaxis (GO:0048247)|macrophage chemotaxis (GO:0048246)|MAPK cascade (GO:0000165)|monocyte chemotaxis (GO:0002548)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of bone mineralization (GO:0030502)|negative regulation of gene expression (GO:0010629)|negative regulation of osteoclast differentiation (GO:0045671)|neutrophil chemotaxis (GO:0030593)|osteoblast differentiation (GO:0001649)|positive chemotaxis (GO:0050918)|positive regulation of calcium ion import (GO:0090280)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cell migration (GO:0030335)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of natural killer cell chemotaxis (GO:2000503)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of tumor necrosis factor production (GO:0032760)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of sensory perception of pain (GO:0051930)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to cholesterol (GO:0070723)|response to toxic substance (GO:0009636)|signaling (GO:0023052)|T cell chemotaxis (GO:0010818)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular (GO:0005622)	calcium-dependent protein kinase C activity (GO:0004698)|CCR1 chemokine receptor binding (GO:0031726)|CCR5 chemokine receptor binding (GO:0031730)|chemoattractant activity (GO:0042056)|chemokine activity (GO:0008009)|identical protein binding (GO:0042802)|kinase activity (GO:0016301)|phospholipase activator activity (GO:0016004)|protein kinase activity (GO:0004672)			breast(2)|lung(3)|urinary_tract(1)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCAAGGGACAGAGCTCCTGGG	0.483																																																	0																																										SO:0001627	intron_variant	0			M23178	CCDS11307.1	17q12	2014-05-06	2002-08-22	2002-08-23	ENSG00000006075	ENSG00000277632		"""Chemokine ligands"", ""Endogenous ligands"""	10627	protein-coding gene	gene with protein product		182283	"""small inducible cytokine A3 (homologous to mouse Mip-1a)"""	SCYA3			Standard	NM_002983		Approved	G0S19-1, LD78ALPHA, MIP-1-alpha	uc002hkv.3	P10147	OTTHUMG00000188413	ENST00000225245.5:c.74-338C>T	17.37:g.34416981G>A				RNA	SNP	-	NULL	ENST00000225245.5	37	NULL	CCDS11307.1	17																																																																																			AC069363.1	-	-		0.483	CCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000224298	Clone_based_vega_gene	protein_coding	OTTHUMT00000256581.1	G	NM_002983		34416981	+1	no_errors	ENST00000441575	ensembl	human	known	70_37	rna	SNP	0.000	A
RP4-564F22.5	0	genome.wustl.edu	37	20	37044451	37044451	+	lincRNA	SNP	G	G	T			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr20:37044451G>T	ENST00000422519.1	-	0	993																											tttataaacgggaattttcct	0.493																																																	0																																												0																															20.37:g.37044451G>T				RNA	SNP	-	NULL	ENST00000422519.1	37	NULL		20																																																																																			RP4-564F22.5	-	-		0.493	RP4-564F22.5-001	KNOWN	basic	lincRNA	ENSG00000224635	Clone_based_vega_gene	lincRNA	OTTHUMT00000079172.1	G			37044451	-1	no_errors	ENST00000422519	ensembl	human	known	70_37	rna	SNP	0.000	T
RP11-69C17.3	0	genome.wustl.edu	37	10	2208584	2208584	+	lincRNA	SNP	G	G	T			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr10:2208584G>T	ENST00000421077.1	+	0	59				RP11-69C17.4_ENST00000418524.2_lincRNA																							CATGTGGAGGGACGCAGCCTC	0.532																																																	0																																												0																															10.37:g.2208584G>T				RNA	SNP	-	NULL	ENST00000421077.1	37	NULL		10																																																																																			RP11-69C17.3	-	-		0.532	RP11-69C17.3-001	KNOWN	basic	lincRNA	ENSG00000227912	Clone_based_vega_gene	lincRNA	OTTHUMT00000046435.1	G			2208584	+1	no_errors	ENST00000421077	ensembl	human	known	70_37	rna	SNP	0.032	T
LOC101926942	101926942	genome.wustl.edu	37	10	92290388	92290388	+	lincRNA	SNP	C	C	A			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr10:92290388C>A	ENST00000418379.1	-	0	74																											ACCGAGACACCTCATGCCTTC	0.393																																																	0																																												0																															10.37:g.92290388C>A				RNA	SNP	-	NULL	ENST00000418379.1	37	NULL		10																																																																																			RP11-94M14.2	-	-		0.393	RP11-15K3.1-001	KNOWN	basic	lincRNA	ENSG00000224750	Clone_based_vega_gene	lincRNA	OTTHUMT00000049342.1	C			92290388	+1	no_errors	ENST00000439157	ensembl	human	known	70_37	rna	SNP	0.000	A
AP005273.1	0	genome.wustl.edu	37	11	64272849	64272849	+	lincRNA	SNP	C	C	T			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr11:64272849C>T	ENST00000444862.1	+	0	513																											aataaagttgcttttcttaat	0.552																																																	0																																												0																															11.37:g.64272849C>T				RNA	SNP	-	NULL	ENST00000444862.1	37	NULL		11																																																																																			AP005273.1	-	-		0.552	AP005273.1-001	KNOWN	basic|exp_conf	lincRNA	ENSG00000232500	Clone_based_vega_gene	lincRNA	OTTHUMT00000141967.1	C			64272849	+1	no_errors	ENST00000444862	ensembl	human	known	70_37	rna	SNP	0.042	T
TRIM52	84851	genome.wustl.edu	37	5	180684510	180684510	+	Intron	SNP	A	A	G			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr5:180684510A>G	ENST00000327767.4	-	2	1118				CTC-338M12.4_ENST00000417281.2_RNA|CTC-338M12.4_ENST00000506340.1_RNA|AC008443.1_ENST00000599439.1_3'UTR|CTC-338M12.4_ENST00000505151.1_RNA|CTC-338M12.4_ENST00000511331.1_RNA|TRIM52_ENST00000514805.1_5'Flank	NM_032765.2	NP_116154.1	Q96A61	TRI52_HUMAN	tripartite motif containing 52						positive regulation of NF-kappaB transcription factor activity (GO:0051092)	intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	8	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;0.0106)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0588)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.232)		ATTATGAAAAATGAAGTTTTT	0.279																																																	0													54.0	51.0	52.0					5																	180684510		2202	4300	6502	SO:0001627	intron_variant	0				CCDS4467.1	5q35.3	2013-01-09	2011-01-25		ENSG00000183718	ENSG00000183718		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19024	protein-coding gene	gene with protein product			"""tripartite motif-containing 52"""				Standard	NM_032765		Approved	RNF102	uc003mnp.3	Q96A61	OTTHUMG00000130964	ENST00000327767.4:c.814-15T>C	5.37:g.180684510A>G				RNA	SNP	-	NULL	ENST00000327767.4	37	NULL	CCDS4467.1	5																																																																																			CTC-338M12.4	-	-		0.279	TRIM52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000233937	Clone_based_vega_gene	protein_coding	OTTHUMT00000253572.3	A	NM_032765		180684510	+1	no_errors	ENST00000417281	ensembl	human	putative	70_37	rna	SNP	0.640	G
RBM8A	9939	genome.wustl.edu	37	1	145507648	145507648	+	5'UTR	SNP	G	G	C			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr1:145507648G>C	ENST00000330165.8	+	0	51				RP11-315I20.1_ENST00000597144.1_RNA|RP11-315I20.1_ENST00000598354.1_RNA|RP11-315I20.1_ENST00000599469.1_RNA|RP11-315I20.1_ENST00000599147.1_RNA|RP11-315I20.1_ENST00000599626.1_RNA|RP11-315I20.1_ENST00000601726.1_RNA|GNRHR2_ENST00000312753.5_RNA|RP11-315I20.1_ENST00000448561.1_RNA|RP11-315I20.1_ENST00000421764.1_RNA|RBM8A_ENST00000369307.3_5'UTR|RP11-315I20.1_ENST00000437797.1_RNA|RP11-315I20.1_ENST00000600340.1_RNA|RP11-315I20.1_ENST00000595494.1_RNA|RP11-315I20.1_ENST00000596355.1_RNA|RP11-315I20.1_ENST00000447686.2_RNA|RP11-315I20.1_ENST00000412239.1_RNA|RP11-315I20.1_ENST00000598103.1_RNA|RP11-315I20.1_ENST00000595518.1_RNA	NM_005105.3	NP_005096.1	Q9Y5S9	RBM8A_HUMAN	RNA binding motif protein 8A						gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GCACAGACGAGATCTCGATCG	0.567											OREG0013748	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													36.0	28.0	31.0					1																	145507648		2203	4300	6503	SO:0001623	5_prime_UTR_variant	0			AF127761	CCDS72872.1	1q21.1	2013-02-12			ENSG00000131795			"""RNA binding motif (RRM) containing"""	9905	protein-coding gene	gene with protein product		605313		RBM8		11004516, 11013075	Standard	NM_005105		Approved	ZNRP, BOV-1A, BOV-1B, BOV-1C, RBM8B, Y14	uc001ent.2	Q9Y5S9	OTTHUMG00000013736	ENST00000330165.8:c.-19G>C	1.37:g.145507648G>C		1695	B3KQI9|Q6FHD1|Q6IQ40|Q9GZX8|Q9NZI4	RNA	SNP	-	NULL	ENST00000330165.8	37	NULL	CCDS916.1	1																																																																																			RP11-315I20.1	-	-		0.567	RBM8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000234222	Clone_based_vega_gene	protein_coding	OTTHUMT00000038503.2	G	NM_005105		145507648	-1	no_errors	ENST00000412239	ensembl	human	known	70_37	rna	SNP	0.367	C
DYTN	391475	genome.wustl.edu	37	2	207513828	207513828	+	IGR	SNP	C	C	T			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr2:207513828C>T	ENST00000452335.2	-	0	2051				AC010731.4_ENST00000543490.1_lincRNA	NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin							plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		GGATGCTTGACATGTTAATAA	0.383																																																	0																																										SO:0001628	intergenic_variant	0			ABF55377	CCDS46502.1	2q33.3	2007-01-22			ENSG00000232125	ENSG00000232125			23279	protein-coding gene	gene with protein product						17233888	Standard	NM_001093730		Approved		uc002vbr.1	A2CJ06	OTTHUMG00000154729		2.37:g.207513828C>T				RNA	SNP	-	NULL	ENST00000452335.2	37	NULL	CCDS46502.1	2																																																																																			AC010731.4	-	-		0.383	DYTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000235118	Clone_based_vega_gene	protein_coding	OTTHUMT00000336799.1	C			207513828	+1	no_errors	ENST00000543490	ensembl	human	known	70_37	rna	SNP	0.000	T
LOC101927660	101927660	genome.wustl.edu	37	1	232315327	232315327	+	lincRNA	SNP	A	A	G			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr1:232315327A>G	ENST00000441459.1	-	0	532				RP5-865N13.2_ENST00000428673.1_lincRNA																							TACAGGAAAGATATCTTAAGA	0.289																																																	0																																												0																															1.37:g.232315327A>G				RNA	SNP	-	NULL	ENST00000441459.1	37	NULL		1																																																																																			RP5-865N13.1	-	-		0.289	RP5-865N13.1-001	KNOWN	basic	lincRNA	ENSG00000236372	Clone_based_vega_gene	lincRNA	OTTHUMT00000092348.1	A			232315327	-1	no_errors	ENST00000441459	ensembl	human	known	70_37	rna	SNP	0.000	G
ZNF785	146540	genome.wustl.edu	37	16	30593147	30593147	+	3'UTR	SNP	G	G	T			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr16:30593147G>T	ENST00000395216.2	-	0	2111				ZNF785_ENST00000470110.1_Intron|AC002310.7_ENST00000492040.1_RNA|AC002310.7_ENST00000486926.1_RNA	NM_152458.6	NP_689671.2	A8K8V0	ZN785_HUMAN	zinc finger protein 785						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9						ggtggctcacgcttgtaatcc	0.552																																																	0																																										SO:0001624	3_prime_UTR_variant	0			BC040642	CCDS10685.1	16p11.2	2013-01-08			ENSG00000197162	ENSG00000197162		"""Zinc fingers, C2H2-type"", ""-"""	26496	protein-coding gene	gene with protein product						10493829	Standard	NM_152458		Approved	FLJ32130	uc002dyu.3	A8K8V0	OTTHUMG00000132398	ENST00000395216.2:c.*734C>A	16.37:g.30593147G>T			O75701|Q8IW91|Q8WV14|Q96MN0	RNA	SNP	-	NULL	ENST00000395216.2	37	NULL	CCDS10685.1	16																																																																																			AC002310.7	-	-		0.552	ZNF785-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000239791	Clone_based_vega_gene	protein_coding	OTTHUMT00000255529.2	G	NM_152458		30593147	+1	no_errors	ENST00000486926	ensembl	human	known	70_37	rna	SNP	0.207	T
LINC00877	285286	genome.wustl.edu	37	3	72085412	72085412	+	lincRNA	SNP	G	G	T			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr3:72085412G>T	ENST00000468646.2	-	0	1544					NR_104116.1				long intergenic non-protein coding RNA 877																		GTCAATTGttgattgcaagtg	0.333																																																	0																																												0			AK097190		3p13	2013-06-18			ENSG00000241163	ENSG00000241163		"""Long non-coding RNAs"""	27706	non-coding RNA	RNA, long non-coding							Standard	NR_104116		Approved				OTTHUMG00000158784		3.37:g.72085412G>T				RNA	SNP	-	NULL	ENST00000468646.2	37	NULL		3																																																																																			RP11-398A8.3	-	-		0.333	LINC00877-001	KNOWN	basic	lincRNA	ENSG00000241163	Clone_based_vega_gene	lincRNA	OTTHUMT00000352207.2	G			72085412	-1	no_errors	ENST00000468646	ensembl	human	known	70_37	rna	SNP	0.356	T
LOC105375483	105375483	genome.wustl.edu	37	7	123666723	123666724	+	RNA	INS	-	-	T	rs35718972|rs397734529		TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr7:123666723_123666724insT	ENST00000472838.1	+	0	764_765																											gcttggccTGATTTTTTTTTTT	0.366																																																	0																																												0																															7.37:g.123666734_123666734dupT				RNA	INS	-	NULL	ENST00000472838.1	37	NULL		7																																																																																			RP4-630C24.3	-	-		0.366	RP4-630C24.3-002	KNOWN	basic	antisense	ENSG00000241345	Clone_based_vega_gene	antisense	OTTHUMT00000348429.1	-			123666724	+1	no_errors	ENST00000472838	ensembl	human	known	70_37	rna	INS	0.031:0.043	T
ARHGEF35	445328	genome.wustl.edu	37	7	143977598	143977598	+	Intron	SNP	T	T	C			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr7:143977598T>C	ENST00000543357.1	-	1	20				RP4-545C24.1_ENST00000460955.1_RNA|OR2A1-AS1_ENST00000476560.1_RNA|OR2A1-AS1_ENST00000478806.1_RNA|OR2A1-AS1_ENST00000489488.1_RNA|OR2A1-AS1_ENST00000487102.1_RNA|OR2A1-AS1_ENST00000461843.1_RNA|OR2A1-AS1_ENST00000463561.1_RNA			A5YM69	ARG35_HUMAN	Rho guanine nucleotide exchange factor (GEF) 35											kidney(1)|large_intestine(1)|lung(3)|stomach(1)	6						atgcaacagttgaaagaaatg	0.398																																																	0																																										SO:0001627	intron_variant	0			AK125680	CCDS34770.1	7q35	2012-07-24	2010-04-13	2010-04-13	ENSG00000213214	ENSG00000213214		"""Rho guanine nucleotide exchange factors"""	33846	protein-coding gene	gene with protein product			"""Rho guanine nucleotide exchange factor (GEF) 5-like"""	ARHGEF5L			Standard	NM_001003702		Approved	FLJ43692, CTAGE4	uc003wdz.2	A5YM69	OTTHUMG00000158010	ENST00000543357.1:c.11+13612A>G	7.37:g.143977598T>C			Q6ZUI2	RNA	SNP	-	NULL	ENST00000543357.1	37	NULL	CCDS34770.1	7																																																																																			RP4-545C24.1	-	-		0.398	ARHGEF35-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000244198	Clone_based_vega_gene	protein_coding	OTTHUMT00000349997.1	T	NM_001003702		143977598	+1	no_errors	ENST00000460955	ensembl	human	known	70_37	rna	SNP	0.001	C
SLCO5A1	81796	genome.wustl.edu	37	8	70749154	70749154	+	5'Flank	SNP	G	G	A			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr8:70749154G>A	ENST00000260126.4	-	0	0				RP11-159H10.3_ENST00000528800.2_RNA|SLCO5A1_ENST00000528658.1_5'Flank|RP11-159H10.3_ENST00000501104.2_RNA|RP11-159H10.3_ENST00000533300.1_RNA	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			AGTGAGCAAAGATACGTGGCA	0.478																																																	0																																										SO:0001631	upstream_gene_variant	0			AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"""Solute carriers"""	19046	protein-coding gene	gene with protein product		613543	"""solute carrier family 21 (organic anion transporter), member 15"""	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121		8.37:g.70749154G>A	Exception_encountered		A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	RNA	SNP	-	NULL	ENST00000260126.4	37	NULL	CCDS6205.1	8																																																																																			RP11-159H10.3	-	-		0.478	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000246528	Clone_based_vega_gene	protein_coding	OTTHUMT00000381990.3	G	NM_030958		70749154	+1	no_errors	ENST00000501104	ensembl	human	known	70_37	rna	SNP	0.000	A
FAM20C	56975	genome.wustl.edu	37	7	228609	228609	+	Intron	SNP	G	G	T	rs557796556		TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr7:228609G>T	ENST00000313766.5	+	3	1094				AC145676.2_ENST00000514988.1_Silent_p.T84T	NM_020223.3	NP_064608.2	Q8IXL6	DMP4_HUMAN	family with sequence similarity 20, member C						dentinogenesis (GO:0097187)|enamel mineralization (GO:0070166)|odontoblast differentiation (GO:0071895)|osteoclast maturation (GO:0036179)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|protein phosphorylation (GO:0006468)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of phosphorus metabolic process (GO:0051174)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|lung(2)|urinary_tract(1)	4		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.57e-17)|Epithelial(4;1.26e-16)|all cancers(6;4.79e-14)		CCACAGAGCCGGTGTGAGCCA	0.622																																																	0																																										SO:0001627	intron_variant	0			BC040074	CCDS47522.1	7p22.3	2012-11-29			ENSG00000177706	ENSG00000177706			22140	protein-coding gene	gene with protein product	"""dentin matrix protein 4"""	611061				17369251, 17924334	Standard	NM_020223		Approved	IMAGE:4942737, DKFZp547D065, DMP4	uc003sip.3	Q8IXL6	OTTHUMG00000151401	ENST00000313766.5:c.863+19633G>T	7.37:g.228609G>T			A4D2Q5|L8B5W8|Q5I0W9|Q7Z4I0|Q9NPT2	Silent	SNP	NULL	p.T84	ENST00000313766.5	37	c.252	CCDS47522.1	7																																																																																			AC145676.2	-	NULL		0.622	FAM20C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000249852	Clone_based_vega_gene	protein_coding	OTTHUMT00000322476.2	G	NM_020223		228609	-1	no_errors	ENST00000514988	ensembl	human	putative	70_37	silent	SNP	0.003	T
RP11-91J3.2	0	genome.wustl.edu	37	4	188293053	188293053	+	lincRNA	SNP	G	G	T			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr4:188293053G>T	ENST00000509058.1	+	0	476																											TTGCTGATACGCAttaagtgt	0.368																																																	0																																												0																															4.37:g.188293053G>T				RNA	SNP	-	NULL	ENST00000509058.1	37	NULL		4																																																																																			RP11-91J3.2	-	-		0.368	RP11-91J3.2-001	KNOWN	basic|exp_conf	lincRNA	ENSG00000250042	Clone_based_vega_gene	lincRNA	OTTHUMT00000360094.1	G			188293053	+1	no_errors	ENST00000509058	ensembl	human	putative	70_37	rna	SNP	0.000	T
SLC35E3	55508	genome.wustl.edu	37	12	69186401	69186401	+	Silent	SNP	G	G	A			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr12:69186401G>A	ENST00000399333.3	+	1	277	c.66G>A	c.(64-66)aaG>aaA	p.K22K	SLC35E3_ENST00000538043.1_Intron																							CACAGAGCAAGCCAAACAGGA	0.473																																																	0																																										SO:0001819	synonymous_variant	0																														ENST00000399333.3:c.66G>A	12.37:g.69186401G>A				Silent	SNP	NULL	p.K22	ENST00000399333.3	37	c.66		12																																																																																			AC124890.1	-	NULL		0.473	AC124890.1-201	NOVEL	basic|appris_principal	protein_coding	ENSG00000251695	Clone_based_ensembl_gene	protein_coding		G			69186401	+1	no_errors	ENST00000399333	ensembl	human	known	70_37	silent	SNP	0.000	A
LOC102724612	102724612	genome.wustl.edu	37	8	64384929	64384930	+	lincRNA	INS	-	-	T	rs543340309		TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr8:64384929_64384930insT	ENST00000518739.1	+	0	2956_2957																											CCCCCACAGCATTTTTTTTTTC	0.337																																																	0																																												0																															8.37:g.64384939_64384939dupT				RNA	INS	-	NULL	ENST00000518739.1	37	NULL		8																																																																																			RP11-45K10.2	-	-		0.337	RP11-45K10.2-001	KNOWN	basic	lincRNA	ENSG00000253894	Clone_based_vega_gene	lincRNA	OTTHUMT00000378596.1	-			64384930	+1	no_errors	ENST00000517899	ensembl	human	known	70_37	rna	INS	0.000:0.003	T
YPEL4	219539	genome.wustl.edu	37	11	57420263	57420264	+	5'Flank	INS	-	-	A			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr11:57420263_57420264insA	ENST00000524669.1	-	0	0				AP000662.4_ENST00000530595.1_RNA|YPEL4_ENST00000300022.3_5'Flank|YPEL4_ENST00000531442.1_5'Flank			Q96NS1	YPEL4_HUMAN	yippee-like 4 (Drosophila)							nucleus (GO:0005634)				lung(2)|skin(1)	3						gactccgtctcaaaaaaaaaaa	0.436																																																	0																																										SO:0001631	upstream_gene_variant	0			AK054775	CCDS7963.1	11q12	2008-02-05				ENSG00000166793			18328	protein-coding gene	gene with protein product		609725					Standard	NM_145008		Approved	FLJ30213	uc001nkv.4	Q96NS1			11.37:g.57420274_57420274dupA	Exception_encountered		B3KW92|Q2M3U7|Q65Z98	RNA	INS	-	NULL	ENST00000524669.1	37	NULL	CCDS7963.1	11																																																																																			AP000662.4	-	-		0.436	YPEL4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ENSG00000254602	Clone_based_vega_gene	protein_coding	OTTHUMT00000393370.1	-	NM_145008		57420264	+1	no_errors	ENST00000530595	ensembl	human	known	70_37	rna	INS	0.021:0.015	A
GAPDH	2597	genome.wustl.edu	37	12	6641851	6641851	+	5'Flank	SNP	G	G	A	rs376214138		TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr12:6641851G>A	ENST00000229239.5	+	0	0				GAPDH_ENST00000396856.1_5'Flank|GAPDH_ENST00000396861.1_5'Flank|GAPDH_ENST00000396859.1_5'Flank|GAPDH_ENST00000396858.1_5'Flank|RP5-940J5.3_ENST00000537921.1_RNA	NM_002046.4	NP_002037.2	P04406	G3P_HUMAN	glyceraldehyde-3-phosphate dehydrogenase						carbohydrate metabolic process (GO:0005975)|cellular response to interferon-gamma (GO:0071346)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of translation (GO:0017148)|neuron apoptotic process (GO:0051402)|peptidyl-cysteine S-trans-nitrosylation (GO:0035606)|protein stabilization (GO:0050821)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|GAIT complex (GO:0097452)|lipid particle (GO:0005811)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)|vesicle (GO:0031982)	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity (GO:0004365)|identical protein binding (GO:0042802)|microtubule binding (GO:0008017)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|peptidyl-cysteine S-nitrosylase activity (GO:0035605)			central_nervous_system(1)|cervix(1)|endometrium(1)|lung(4)	7						AGTCACCTTCGAACCGGAGGC	0.627													G|||	1	0.000199681	0.0	0.0	5008	,	,		20646	0.0		0.0	False		,,,				2504	0.001																0																																										SO:0001631	upstream_gene_variant	0			AF261085	CCDS8549.1, CCDS58201.1	12p13.31	2012-10-02		2005-05-06	ENSG00000111640	ENSG00000111640	1.2.1.12		4141	protein-coding gene	gene with protein product		138400		GAPD		3170585	Standard	NM_002046		Approved		uc001qop.2	P04406	OTTHUMG00000137379		12.37:g.6641851G>A	Exception_encountered		E7EUT4|P00354|Q53X65	RNA	SNP	-	NULL	ENST00000229239.5	37	NULL	CCDS8549.1	12																																																																																			RP5-940J5.3	-	-		0.627	GAPDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000255966	Clone_based_vega_gene	protein_coding	OTTHUMT00000268059.1	G	NM_002046		6641851	-1	no_errors	ENST00000537921	ensembl	human	known	70_37	rna	SNP	0.015	A
RP11-377D9.3	0	genome.wustl.edu	37	12	13193160	13193160	+	lincRNA	SNP	C	C	T			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr12:13193160C>T	ENST00000543321.1	+	0	1950																											aaactcagctcaggaacaaag	0.498																																																	0																																												0																															12.37:g.13193160C>T				RNA	SNP	-	NULL	ENST00000543321.1	37	NULL		12																																																																																			RP11-377D9.2	-	-		0.498	RP11-377D9.3-001	KNOWN	basic	lincRNA	ENSG00000256175	Clone_based_vega_gene	lincRNA	OTTHUMT00000401005.1	C			13193160	-1	no_errors	ENST00000542311	ensembl	human	known	70_37	rna	SNP	0.150	T
RP11-781A6.1	0	genome.wustl.edu	37	12	78177296	78177296	+	lincRNA	SNP	C	C	A			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr12:78177296C>A	ENST00000549993.1	+	0	316																											AAGGAACTAACATCTAGCTGG	0.453																																																	0																																												0																															12.37:g.78177296C>A				RNA	SNP	-	NULL	ENST00000549993.1	37	NULL		12																																																																																			RP11-781A6.1	-	-		0.453	RP11-781A6.1-001	KNOWN	basic	lincRNA	ENSG00000258066	Clone_based_vega_gene	lincRNA	OTTHUMT00000406729.1	C			78177296	+1	no_errors	ENST00000549993	ensembl	human	known	70_37	rna	SNP	0.000	A
CTD-2561F5.1	0	genome.wustl.edu	37	14	101744340	101744340	+	lincRNA	SNP	G	G	A			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr14:101744340G>A	ENST00000555328.1	+	0	2175																											agtggaggctgagaggaaact	0.507																																																	0																																												0																															14.37:g.101744340G>A				RNA	SNP	-	NULL	ENST00000555328.1	37	NULL		14																																																																																			CTD-2561F5.1	-	-		0.507	CTD-2561F5.1-001	KNOWN	basic	lincRNA	ENSG00000258497	Clone_based_vega_gene	lincRNA	OTTHUMT00000414690.1	G			101744340	+1	no_errors	ENST00000555328	ensembl	human	known	70_37	rna	SNP	0.072	A
BAG5	9529	genome.wustl.edu	37	14	104019999	104020000	+	IGR	INS	-	-	A	rs71126035|rs398026467|rs398078004	byFrequency	TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr14:104019999_104020000insA	ENST00000445922.2	-	0	4867				RP11-894P9.2_ENST00000556332.1_RNA	NM_004873.3	NP_004864.1	Q9UL15	BAG5_HUMAN	BCL2-associated athanogene 5						negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein refolding (GO:0061084)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|neuron death (GO:0070997)|protein folding (GO:0006457)|regulation of inclusion body assembly (GO:0090083)	inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	chaperone binding (GO:0051087)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)			endometrium(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	24		Melanoma(154;0.155)	Epithelial(46;0.144)			ttgggcgacagaaaaaaaaaaa	0.55													|||unknown(HR)	1611	0.321685	0.1543	0.3199	5008	,	,		24116	0.4504		0.2922	False		,,,				2504	0.4468				NSCLC(171;1832 2055 18950 31566 41632)												0																																										SO:0001628	intergenic_variant	0			AF095195	CCDS9982.1, CCDS41995.1	14q32	2008-08-01				ENSG00000166170			941	protein-coding gene	gene with protein product		603885				9873016, 15603737	Standard	NM_001015048		Approved		uc001ynh.2	Q9UL15			14.37:g.104020010_104020010dupA			O94950|Q86W59	RNA	INS	-	NULL	ENST00000445922.2	37	NULL	CCDS9982.1	14																																																																																			RP11-894P9.2	-	-		0.550	BAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000258851	Clone_based_vega_gene	protein_coding	OTTHUMT00000414990.1	-			104020000	+1	no_errors	ENST00000556332	ensembl	human	known	70_37	rna	INS	0.058:0.052	A
CTXN2	399697	genome.wustl.edu	37	15	48484478	48484478	+	5'UTR	SNP	G	G	T			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr15:48484478G>T	ENST00000541248.1	+	0	91				RP11-605F22.1_ENST00000559875.1_RNA|CTXN2_ENST00000417307.2_Intron|RP11-605F22.2_ENST00000560339.1_lincRNA			P0C2S0	CTXN2_HUMAN	cortexin 2							integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)	2						GCGTTGGAAGGATTGAGTGTC	0.428																																																	0																																										SO:0001623	5_prime_UTR_variant	0			BK004876	CCDS45254.1	15q21.1	2013-09-20			ENSG00000233932	ENSG00000233932			31109	protein-coding gene	gene with protein product							Standard	NM_001145668		Approved		uc001zwm.1	P0C2S0	OTTHUMG00000172152	ENST00000541248.1:c.-221G>T	15.37:g.48484478G>T				RNA	SNP	-	NULL	ENST00000541248.1	37	NULL	CCDS45254.1	15																																																																																			RP11-605F22.1	-	-		0.428	CTXN2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000259385	Clone_based_vega_gene	protein_coding	OTTHUMT00000417125.1	G			48484478	-1	no_errors	ENST00000559875	ensembl	human	known	70_37	rna	SNP	0.000	T
TLN2	83660	genome.wustl.edu	37	15	63126600	63126600	+	Intron	SNP	C	C	A			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr15:63126600C>A	ENST00000561311.1	+	54	7358				TLN2_ENST00000306829.6_Intron|RP11-1069G10.1_ENST00000558404.1_RNA|RP11-1069G10.1_ENST00000558888.1_RNA			Q9Y4G6	TLN2_HUMAN	talin 2						cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						TCATTCATTTCTGTTTGATAT	0.478																																																	0																																										SO:0001627	intron_variant	0			AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.7128+772C>A	15.37:g.63126600C>A			A6NLB8	RNA	SNP	-	NULL	ENST00000561311.1	37	NULL	CCDS32261.1	15																																																																																			RP11-1069G10.1	-	-		0.478	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000259370	Clone_based_vega_gene	protein_coding	OTTHUMT00000257878.2	C			63126600	-1	no_errors	ENST00000558888	ensembl	human	known	70_37	rna	SNP	0.002	A
AGO2	27161	genome.wustl.edu	37	8	141539356	141539356	+	IGR	SNP	G	G	A			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr8:141539356G>A	ENST00000220592.5	-	0	3572				CASC7_ENST00000560295.1_lincRNA	NM_012154.3	NP_036286.2	Q9UKV8	AGO2_HUMAN	argonaute RISC catalytic component 2						epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|regulation of transcription, DNA-templated (GO:0006355)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|mRNA cap binding complex (GO:0005845)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|RISC complex (GO:0016442)	endoribonuclease activity (GO:0004521)|endoribonuclease activity, cleaving siRNA-paired mRNA (GO:0070551)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA 7-methylguanosine cap binding (GO:0000340)|siRNA binding (GO:0035197)|translation initiation factor activity (GO:0003743)										TCAGATGCCGGGGAAGGGCCA	0.552																																																	0																																										SO:0001628	intergenic_variant	0			AF121255	CCDS6380.1, CCDS55279.1	8q24.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000123908	ENSG00000123908		"""Argonaute/PIWI family"""	3263	protein-coding gene	gene with protein product	"""argonaute 2"""	606229	"""eukaryotic translation initiation factor 2C, 2"""	EIF2C2		10534406, 12906857	Standard	NM_012154		Approved	hAGO2, Q10	uc003yvn.3	Q9UKV8	OTTHUMG00000164232		8.37:g.141539356G>A			Q8TCZ5|Q8WV58|Q96ID1	RNA	SNP	-	NULL	ENST00000220592.5	37	NULL	CCDS6380.1	8																																																																																			CTA-204B4.6	-	-		0.552	AGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000259758	Clone_based_vega_gene	protein_coding	OTTHUMT00000377866.4	G			141539356	-1	no_errors	ENST00000560295	ensembl	human	known	70_37	rna	SNP	0.000	A
KCNB1	3745	genome.wustl.edu	37	20	47980769	47980769	+	3'UTR	SNP	C	C	G			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr20:47980769C>G	ENST00000371741.4	-	0	11494					NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1						energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|dendrite membrane (GO:0032590)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Dalfampridine(DB06637)	TGGCCCCTGTCAAGGGTGAGG	0.532																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6231	protein-coding gene	gene with protein product		600397				7774931, 16382104	Standard	NM_004975		Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.*8751G>C	20.37:g.47980769C>G			Q14193	RNA	SNP	-	NULL	ENST00000371741.4	37	NULL	CCDS13418.1	20																																																																																			RP4-791K14.2	-	-		0.532	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000260124	Clone_based_vega_gene	protein_coding	OTTHUMT00000080374.3	C	NM_004975		47980769	-1	no_errors	ENST00000562732	ensembl	human	known	70_37	rna	SNP	0.000	G
RGS8	85397	genome.wustl.edu	37	1	182612354	182612354	+	IGR	SNP	G	G	T			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr1:182612354G>T	ENST00000483095.2	-	0	1432				RP11-317P15.5_ENST00000570153.1_lincRNA			P57771	RGS8_HUMAN	regulator of G-protein signaling 8						positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			haematopoietic_and_lymphoid_tissue(1)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	5						CAGCCATCCCGAGTCAGGCTG	0.597																																					Ovarian(189;1262 3804 41973)												0																																										SO:0001628	intergenic_variant	0			AF297015	CCDS1349.1, CCDS41443.1	1q25	2008-07-18	2007-08-14		ENSG00000135824	ENSG00000135824		"""Regulators of G-protein signaling"""	16810	protein-coding gene	gene with protein product		607189	"""regulator of G-protein signalling 8"""			11318611	Standard	NM_001102450		Approved	MGC119067, MGC119068, MGC119069	uc001gpm.1	P57771	OTTHUMG00000035219		1.37:g.182612354G>T			B4DGL9|Q3SYD2	RNA	SNP	-	NULL	ENST00000483095.2	37	NULL	CCDS41443.1	1																																																																																			RP11-317P15.5	-	-		0.597	RGS8-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ENSG00000261185	Clone_based_vega_gene	protein_coding	OTTHUMT00000358979.1	G	NM_033345		182612354	-1	no_errors	ENST00000570153	ensembl	human	known	70_37	rna	SNP	0.012	T
ARIH1	25820	genome.wustl.edu	37	15	72765218	72765218	+	5'Flank	SNP	G	G	T			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr15:72765218G>T	ENST00000379887.4	+	0	0				RP11-1007O24.3_ENST00000565181.1_lincRNA	NM_005744.3	NP_005735.2	Q9Y4X5	ARI1_HUMAN	ariadne RBR E3 ubiquitin protein ligase 1						cytokine-mediated signaling pathway (GO:0019221)|protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|ubiquitin ligase complex (GO:0000151)	small conjugating protein ligase activity (GO:0019787)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	14						TAAATCCTGAGGTTAAGAAAT	0.299																																																	0																																										SO:0001631	upstream_gene_variant	0			AF072832	CCDS10244.1	15q24	2013-10-03	2013-10-03		ENSG00000166233	ENSG00000166233			689	protein-coding gene	gene with protein product	"""ariadne, Drosophila, homolog of"""	605624	"""ariadne (Drosophila) homolog, ubiquitin-conjugating enzyme E2-binding protein, 1"", ""ariadne homolog, ubiquitin-conjugating enzyme E2 binding protein, 1 (Drosophila)"""			10521492, 24058416	Standard	NM_005744		Approved	HARI, HHARI, UBCH7BP, ARI	uc002aut.4	Q9Y4X5	OTTHUMG00000133474		15.37:g.72765218G>T	Exception_encountered		B2R6U3|O76026|Q9H3T6|Q9UEN0|Q9UP39	RNA	SNP	-	NULL	ENST00000379887.4	37	NULL	CCDS10244.1	15																																																																																			RP11-1007O24.3	-	-		0.299	ARIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000261423	Clone_based_vega_gene	protein_coding	OTTHUMT00000257350.1	G	NM_005744		72765218	-1	no_errors	ENST00000565181	ensembl	human	known	70_37	rna	SNP	0.008	T
RP11-21L23.2	0	genome.wustl.edu	37	11	76512544	76512544	+	RNA	SNP	G	G	T			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr11:76512544G>T	ENST00000566747.1	+	0	1137																											ACCAGCTCATGGGCTGTTTCT	0.547																																																	0																																												0																															11.37:g.76512544G>T				RNA	SNP	-	NULL	ENST00000566747.1	37	NULL		11																																																																																			RP11-21L23.2	-	-		0.547	RP11-21L23.2-001	KNOWN	basic	sense_overlapping	ENSG00000261578	Clone_based_vega_gene	sense_overlapping	OTTHUMT00000382875.1	G			76512544	+1	no_errors	ENST00000566747	ensembl	human	known	70_37	rna	SNP	0.001	T
TSNARE1	203062	genome.wustl.edu	37	8	143486098	143486098	+	5'Flank	SNP	G	G	A			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr8:143486098G>A	ENST00000307180.3	-	0	0				TSNARE1_ENST00000519651.1_5'Flank|RP13-467H17.1_ENST00000569285.1_RNA|TSNARE1_ENST00000524325.1_5'Flank	NM_145003.3	NP_659440.2	Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1						intracellular protein transport (GO:0006886)|synaptic vesicle exocytosis (GO:0016079)	integral component of membrane (GO:0016021)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)			breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					TGAAGGGGAAGGTTCGCCAGG	0.627																																																	0																																										SO:0001631	upstream_gene_variant	0					8q24.3	2005-08-18							26437	protein-coding gene	gene with protein product						14702039	Standard	XM_005250828		Approved	FLJ31164	uc003ywk.3	Q96NA8			8.37:g.143486098G>A	Exception_encountered		B7ZLB0|Q14D03	RNA	SNP	-	NULL	ENST00000307180.3	37	NULL	CCDS6384.1	8																																																																																			RP13-467H17.1	-	-		0.627	TSNARE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000261693	Clone_based_vega_gene	protein_coding		G	NM_145003		143486098	+1	no_errors	ENST00000569285	ensembl	human	known	70_37	rna	SNP	0.000	A
PDP2	57546	genome.wustl.edu	37	16	66921918	66921918	+	IGR	SNP	T	T	G			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr16:66921918T>G	ENST00000311765.2	+	0	4002				RP11-61A14.3_ENST00000563086.1_lincRNA|RP11-61A14.2_ENST00000561475.1_lincRNA|PDP2_ENST00000568720.1_Intron	NM_020786.2	NP_065837.1	Q9P2J9	PDP2_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 2						cellular metabolic process (GO:0044237)|peptidyl-threonine dephosphorylation (GO:0035970)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	[pyruvate dehydrogenase (lipoamide)] phosphatase activity (GO:0004741)|magnesium-dependent protein serine/threonine phosphatase activity (GO:0004724)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		ccttccttccttccttccttc	0.453																																																	0																																										SO:0001628	intergenic_variant	0			AB037769	CCDS10822.1	16q22.1	2012-04-17			ENSG00000172840	ENSG00000172840		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	30263	protein-coding gene	gene with protein product	"""protein phosphatase 2C, magnesium-dependent, catalytic subunit 2"""	615499				9651365	Standard	NM_020786		Approved	KIAA1348, PPM2C2	uc002eqk.2	Q9P2J9	OTTHUMG00000137512		16.37:g.66921918T>G			A8K924	RNA	SNP	-	NULL	ENST00000311765.2	37	NULL	CCDS10822.1	16																																																																																			RP11-61A14.2	-	-		0.453	PDP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000261705	Clone_based_vega_gene	protein_coding	OTTHUMT00000268831.2	T	NM_020786		66921918	+1	no_errors	ENST00000561475	ensembl	human	known	70_37	rna	SNP	0.001	G
ADD3	120	genome.wustl.edu	37	10	111764077	111764077	+	5'Flank	SNP	G	G	T			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr10:111764077G>T	ENST00000360162.3	+	0	0				RN7SL450P_ENST00000584756.1_RNA	NM_019903.3	NP_063968.1	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma)							cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		cggatcacaaggtcaggagat	0.512																																																	0																																										SO:0001631	upstream_gene_variant	0			U37122	CCDS7561.1, CCDS7562.1	10q25.2	2005-11-08			ENSG00000148700	ENSG00000148700			245	protein-coding gene	gene with protein product		601568		ADDL		8893809	Standard	XM_005269529		Approved		uc001kyv.3	Q9UEY8	OTTHUMG00000019032		10.37:g.111764077G>T	Exception_encountered		D3DRA8|O43243|Q5VU09|Q92773|Q9UEY7	RNA	SNP	-	NULL	ENST00000360162.3	37	NULL	CCDS7562.1	10																																																																																			Metazoa_SRP	-	-		0.512	ADD3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENSG00000263706	RFAM	protein_coding	OTTHUMT00000050291.1	G	NM_019903		111764077	+1	no_errors	ENST00000584756	ensembl	human	novel	70_37	rna	SNP	0.056	T
EVPLL	645027	genome.wustl.edu	37	17	18291278	18291279	+	Intron	INS	-	-	G	rs55740368|rs35026777|rs72380565	byFrequency	TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr17:18291278_18291279insG	ENST00000399134.4	+	10	1234				EVPLL_ENST00000583003.1_Intron|RP1-37N7.1_ENST00000579352.1_RNA	NM_001145127.1	NP_001138599.1	A8MZ36	EVPLL_HUMAN	envoplakin-like											NS(1)|endometrium(1)|large_intestine(1)|lung(2)	5						tagtgagctgttttgggccact	0.485													|||unknown(NO_COVERAGE)	2572	0.513578	0.733	0.549	5008	,	,		10164	0.2044		0.5755	False		,,,				2504	0.4468																0																																										SO:0001627	intron_variant	0				CCDS45626.1	17p11.2	2009-08-25			ENSG00000214860	ENSG00000214860			35236	protein-coding gene	gene with protein product							Standard	NM_001145127		Approved		uc002gte.3	A8MZ36	OTTHUMG00000059095	ENST00000399134.4:c.877-254->G	17.37:g.18291278_18291279insG			B4DPD4	RNA	INS	-	NULL	ENST00000399134.4	37	NULL	CCDS45626.1	17																																																																																			RP1-37N7.1	-	-		0.485	EVPLL-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	ENSG00000264177	Clone_based_vega_gene	protein_coding	OTTHUMT00000130836.2	-	NM_001145127		18291279	-1	no_errors	ENST00000579352	ensembl	human	known	70_37	rna	INS	0.309:0.304	G
PRKCA	5578	genome.wustl.edu	37	17	64400256	64400256	+	Intron	SNP	C	C	G			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr17:64400256C>G	ENST00000413366.3	+	3	231				RP11-4F22.2_ENST00000584614.1_RNA|RP11-4F22.2_ENST00000584715.1_RNA	NM_002737.2	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha						activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|chondrocyte differentiation (GO:0002062)|desmosome assembly (GO:0002159)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|histone H3-T6 phosphorylation (GO:0035408)|inactivation of MAPK activity (GO:0000188)|induction of positive chemotaxis (GO:0050930)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|mRNA metabolic process (GO:0016071)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of glucose import (GO:0046325)|negative regulation of insulin receptor signaling pathway (GO:0046627)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|peptidyl-serine autophosphorylation (GO:0036289)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of dense core granule biogenesis (GO:2000707)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of inflammatory response (GO:0050729)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein phosphorylation (GO:0001934)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of muscle contraction (GO:0006937)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of the force of heart contraction (GO:0002026)|response to interleukin-1 (GO:0070555)|rhodopsin mediated signaling pathway (GO:0016056)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|enzyme binding (GO:0019899)|histone kinase activity (H3-T6 specific) (GO:0035403)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Ingenol Mebutate(DB05013)|Phosphatidylserine(DB00144)|Tamoxifen(DB00675)|Vitamin E(DB00163)	GCTCCCCAATCTCTGTTGCAC	0.463																																																	0																																										SO:0001627	intron_variant	0				CCDS11664.1	17q22-q24	2009-07-10				ENSG00000154229	2.7.11.1		9393	protein-coding gene	gene with protein product		176960		PKCA			Standard	NM_002737		Approved		uc002jfp.1	P17252		ENST00000413366.3:c.206-92063C>G	17.37:g.64400256C>G			B5BU22|Q15137|Q32M72|Q96RE4	RNA	SNP	-	NULL	ENST00000413366.3	37	NULL	CCDS11664.1	17																																																																																			RP11-4F22.2	-	-		0.463	PRKCA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000264630	Clone_based_vega_gene	protein_coding	OTTHUMT00000446976.1	C			64400256	-1	no_errors	ENST00000584614	ensembl	human	known	70_37	rna	SNP	0.001	G
ADCYAP1	116	genome.wustl.edu	37	18	905623	905623	+	Intron	SNP	G	G	A	rs140671226		TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr18:905623G>A	ENST00000579794.1	+	1	388				RP11-672L10.2_ENST00000580612.1_RNA|RP11-672L10.2_ENST00000581719.2_RNA|RP11-672L10.3_ENST00000582554.1_RNA|ADCYAP1_ENST00000450565.3_Intron|RP11-672L10.2_ENST00000577358.1_RNA	NM_001117.3	NP_001108.2	P18509	PACA_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary)						activation of adenylate cyclase activity (GO:0007190)|ATP metabolic process (GO:0046034)|behavioral fear response (GO:0001662)|cAMP-mediated signaling (GO:0019933)|cell-cell signaling (GO:0007267)|cellular response to glucocorticoid stimulus (GO:0071385)|female pregnancy (GO:0007565)|histamine secretion (GO:0001821)|negative regulation of acute inflammatory response to antigenic stimulus (GO:0002865)|negative regulation of acute inflammatory response to non-antigenic stimulus (GO:0002878)|negative regulation of cell cycle (GO:0045786)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of Rho GTPase activity (GO:0034259)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|pituitary gland development (GO:0021983)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of somatostatin secretion (GO:0090274)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasodilation (GO:0045909)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)|regulation of postsynaptic membrane potential (GO:0060078)|regulation of protein localization (GO:0032880)|response to ethanol (GO:0045471)|response to starvation (GO:0042594)|sensory perception of pain (GO:0019233)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|terminal bouton (GO:0043195)	neuropeptide hormone activity (GO:0005184)|peptide hormone receptor binding (GO:0051428)|pituitary adenylate cyclase activating polypeptide activity (GO:0016521)|receptor binding (GO:0005102)|receptor signaling protein activity (GO:0005057)			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						CCCCCGGTGCGCCTCCGCCAG	0.687																																																	0																																										SO:0001627	intron_variant	0			S83513	CCDS11825.1	18p11	2013-02-28			ENSG00000141433	ENSG00000141433		"""Endogenous ligands"""	241	protein-coding gene	gene with protein product	"""prepro-PACAP"""	102980				1730060	Standard	NM_001099733		Approved	PACAP	uc010dkh.4	P18509	OTTHUMG00000131479	ENST00000579794.1:c.110+126G>A	18.37:g.905623G>A			B2R7N4|Q52LQ0	RNA	SNP	-	NULL	ENST00000579794.1	37	NULL	CCDS11825.1	18																																																																																			RP11-672L10.2	-	-		0.687	ADCYAP1-003	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	ENSG00000265179	Clone_based_vega_gene	protein_coding	OTTHUMT00000440765.3	G	NM_001117		905623	-1	no_errors	ENST00000577358	ensembl	human	known	70_37	rna	SNP	0.000	A
CTD-3194G12.2	0	genome.wustl.edu	37	17	35082469	35082469	+	lincRNA	SNP	C	C	T			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr17:35082469C>T	ENST00000591939.1	+	0	273																											TCCACCTCCACGGAGTCCTCA	0.517																																																	0																																												0																															17.37:g.35082469C>T				RNA	SNP	-	NULL	ENST00000591939.1	37	NULL		17																																																																																			CTD-3194G12.2	-	-		0.517	CTD-3194G12.2-001	KNOWN	basic	lincRNA	ENSG00000267785	Clone_based_vega_gene	lincRNA	OTTHUMT00000451395.1	C			35082469	+1	no_errors	ENST00000591939	ensembl	human	known	70_37	rna	SNP	0.000	T
HSH2D	84941	genome.wustl.edu	37	19	16250675	16250675	+	Intron	SNP	C	C	T			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr19:16250675C>T	ENST00000253680.6	+	2	208				HSH2D_ENST00000593154.2_Intron|HSH2D_ENST00000397372.4_Intron|CTD-2231E14.8_ENST00000597983.1_RNA|CTD-2231E14.8_ENST00000599676.1_RNA			Q96JZ2	HSH2D_HUMAN	hematopoietic SH2 domain containing						negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of mitochondrial depolarization (GO:0051902)|positive regulation of signal transduction (GO:0009967)|T cell activation (GO:0042110)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				central_nervous_system(1)|kidney(1)|large_intestine(2)	4						CCACACCCTTCCTTCCTCTGG	0.587																																																	0																																										SO:0001627	intron_variant	0			AK027792	CCDS74304.1	19p13.12	2013-02-14				ENSG00000196684		"""SH2 domain containing"""	24920	protein-coding gene	gene with protein product		608349				11700021	Standard	NM_032855		Approved	ALX, HSH2, FLJ14886	uc002ndp.4	Q96JZ2		ENST00000253680.6:c.-323-2076C>T	19.37:g.16250675C>T			B5ME72|Q6ZNG7	RNA	SNP	-	NULL	ENST00000253680.6	37	NULL		19																																																																																			CTD-2231E14.8	-	-		0.587	HSH2D-201	KNOWN	basic|appris_principal	protein_coding	ENSG00000269243	Clone_based_vega_gene	protein_coding		C	NM_032855		16250675	-1	no_errors	ENST00000597983	ensembl	human	known	70_37	rna	SNP	0.000	T
ERI3	79033	genome.wustl.edu	37	1	44687112	44687112	+	3'UTR	SNP	G	G	A	rs564953349		TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr1:44687112G>A	ENST00000372257.2	-	0	1313				ERI3_ENST00000372259.5_3'UTR|ERI3_ENST00000537474.1_3'UTR	NM_024066.1	NP_076971.1	O43414	ERI3_HUMAN	ERI1 exoribonuclease family member 3								exonuclease activity (GO:0004527)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(2)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CAGGGCAGCTGGGGACACTCT	0.637																																																	0																																										SO:0001624	3_prime_UTR_variant	79033			AF007157	CCDS30696.1	1p34.1	2009-10-07	2009-10-07	2008-12-16	ENSG00000117419	ENSG00000117419		"""Enhanced RNAi three prime mRNA exonucleases"""	17276	protein-coding gene	gene with protein product	"""enhanced RNAi three prime mRNA exonuclease homolog 3 (C.elegans)"", ""exoribonuclease 3"""	609917	"""prion protein interacting protein"""	PRNPIP			Standard	XM_005271184		Approved	FLJ22943, PINT1	uc001clt.3	O43414	OTTHUMG00000007637	ENST00000372257.2:c.*118C>T	1.37:g.44687112G>A			B1AK98|Q5T2T7|Q5T2T9|Q5TG35|Q9BQA0|Q9UEB4	RNA	SNP	-	NULL	ENST00000372257.2	37	NULL	CCDS30696.1	1																																																																																			ERI3	-	-		0.637	ERI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERI3	HGNC	protein_coding	OTTHUMT00000020243.1	G	NM_024066		44687112	-1	no_errors	ENST00000489710	ensembl	human	known	70_37	rna	SNP	1.000	A
FAM107B	83641	genome.wustl.edu	37	10	14709633	14709633	+	Splice_Site	SNP	C	C	A			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr10:14709633C>A	ENST00000181796.2	-	2	702	c.469G>T	c.(469-471)Gac>Tac	p.D157Y		NM_031453.2	NP_113641.2	Q9H098	F107B_HUMAN	family with sequence similarity 107, member B	0					sensory perception of sound (GO:0007605)					breast(7)|kidney(1)|large_intestine(4)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TGTACTCTACCTGATGTCATT	0.448																																																	0													142.0	131.0	135.0					10																	14709633		2203	4300	6503	SO:0001630	splice_region_variant	83641			AK127413	CCDS7102.1, CCDS60486.1	10p14	2006-01-17	2006-01-17	2005-11-20	ENSG00000065809	ENSG00000065809			23726	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 45"""	C10orf45		11230166	Standard	XM_005252616		Approved	FLJ45505, MGC11034	uc001ina.1	Q9H098	OTTHUMG00000017709	ENST00000181796.2:c.469+1G>T	10.37:g.14709633C>A			A8K1P4|D3DRT2|Q5T9K7|Q5T9K8|Q6ZSI4	Nonsense_Mutation	SNP	NULL	p.G157*	ENST00000181796.2	37	c.469	CCDS7102.1	10	.	.	.	.	.	.	.	.	.	.	C	16.77	3.216106	0.58452	.	.	ENSG00000065809	ENST00000181796	T	0.54866	0.55	4.52	4.52	0.55395	.	0.232319	0.28865	N	0.013899	T	0.70202	0.3197	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.71133	-0.4681	8	.	.	.	.	12.9327	0.58296	0.0:1.0:0.0:0.0	.	157	Q9H098-2	.	Y	157	ENSP00000181796:D157Y	.	D	-	1	0	FAM107B	14749639	1.000000	0.71417	1.000000	0.80357	0.116000	0.19942	3.347000	0.52200	2.518000	0.84900	0.555000	0.69702	GAC	FAM107B	-	NULL		0.448	FAM107B-001	KNOWN	basic|CCDS	protein_coding	FAM107B	HGNC	protein_coding	OTTHUMT00000356966.1	C	NM_031453	Missense_Mutation	14709633	-1	no_errors	ENST00000487335	ensembl	human	known	70_37	nonsense	SNP	1.000	A
FAM111A	63901	genome.wustl.edu	37	11	58919992	58919992	+	Nonsense_Mutation	SNP	C	C	A	rs373535960		TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr11:58919992C>A	ENST00000528737.1	+	5	3669	c.851C>A	c.(850-852)tCa>tAa	p.S284*	FAM111A_ENST00000420244.1_Nonsense_Mutation_p.S284*|FAM111A_ENST00000531147.1_Nonsense_Mutation_p.S284*|FAM111A_ENST00000361723.3_Nonsense_Mutation_p.S284*|FAM111A_ENST00000533703.1_Nonsense_Mutation_p.S284*			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	284					defense response to virus (GO:0051607)|DNA replication (GO:0006260)|negative regulation of viral genome replication (GO:0045071)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				AATCCTGAGTCAGAGAAAAGA	0.413																																																	0													48.0	52.0	50.0					11																	58919992		2201	4294	6495	SO:0001587	stop_gained	63901			AK092953	CCDS7973.1	11q12.1	2014-03-13				ENSG00000166801			24725	protein-coding gene	gene with protein product		615292				11572484, 23996431, 23684011	Standard	NM_022074		Approved	FLJ22794, KIAA1895	uc001nnq.3	Q96PZ2		ENST00000528737.1:c.851C>A	11.37:g.58919992C>A	ENSP00000434435:p.Ser284*		A8K5Y8|Q5RKS9|Q5XKM2|Q68DK9|Q6IPR7|Q9H5Y1	Nonsense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like	p.S284*	ENST00000528737.1	37	c.851	CCDS7973.1	11	.	.	.	.	.	.	.	.	.	.	C	20.2	3.947248	0.73672	.	.	ENSG00000166801	ENST00000528737;ENST00000420244;ENST00000361723;ENST00000533703;ENST00000531147	.	.	.	5.65	-1.99	0.07457	.	1.255020	0.05543	N	0.566175	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	-12.3586	11.1821	0.48633	0.0:0.5111:0.0:0.4889	.	.	.	.	X	284	.	ENSP00000355264:S284X	S	+	2	0	FAM111A	58676568	0.004000	0.15560	0.000000	0.03702	0.015000	0.08874	-0.118000	0.10692	-0.289000	0.09038	-0.157000	0.13467	TCA	FAM111A	-	NULL		0.413	FAM111A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FAM111A	HGNC	protein_coding	OTTHUMT00000393975.1	C	NM_022074		58919992	+1	no_errors	ENST00000361723	ensembl	human	known	70_37	nonsense	SNP	0.000	A
FAM111A	63901	genome.wustl.edu	37	11	58919992	58919992	+	Nonsense_Mutation	SNP	C	C	A	rs373535960		TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr11:58919992C>A	ENST00000528737.1	+	5	3669	c.851C>A	c.(850-852)tCa>tAa	p.S284*	FAM111A_ENST00000420244.1_Nonsense_Mutation_p.S284*|FAM111A_ENST00000531147.1_Nonsense_Mutation_p.S284*|FAM111A_ENST00000361723.3_Nonsense_Mutation_p.S284*|FAM111A_ENST00000533703.1_Nonsense_Mutation_p.S284*			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	284					defense response to virus (GO:0051607)|DNA replication (GO:0006260)|negative regulation of viral genome replication (GO:0045071)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				AATCCTGAGTCAGAGAAAAGA	0.413																																																	0													48.0	52.0	50.0					11																	58919992		2201	4294	6495	SO:0001587	stop_gained	63901			AK092953	CCDS7973.1	11q12.1	2014-03-13				ENSG00000166801			24725	protein-coding gene	gene with protein product		615292				11572484, 23996431, 23684011	Standard	NM_022074		Approved	FLJ22794, KIAA1895	uc001nnq.3	Q96PZ2		ENST00000528737.1:c.851C>A	11.37:g.58919992C>A	ENSP00000434435:p.Ser284*		A8K5Y8|Q5RKS9|Q5XKM2|Q68DK9|Q6IPR7|Q9H5Y1	Nonsense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like	p.S284*	ENST00000528737.1	37	c.851	CCDS7973.1	11	.	.	.	.	.	.	.	.	.	.	C	20.2	3.947248	0.73672	.	.	ENSG00000166801	ENST00000528737;ENST00000420244;ENST00000361723;ENST00000533703;ENST00000531147	.	.	.	5.65	-1.99	0.07457	.	1.255020	0.05543	N	0.566175	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	-12.3586	11.1821	0.48633	0.0:0.5111:0.0:0.4889	.	.	.	.	X	284	.	ENSP00000355264:S284X	S	+	2	0	FAM111A	58676568	0.004000	0.15560	0.000000	0.03702	0.015000	0.08874	-0.118000	0.10692	-0.289000	0.09038	-0.157000	0.13467	TCA	FAM111A	-	NULL		0.413	FAM111A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FAM111A	HGNC	protein_coding	OTTHUMT00000393975.1	C	NM_022074		58919992	+1	no_errors	ENST00000361723	ensembl	human	known	70_37	nonsense	SNP	0.000	A
FAM200B	285550	genome.wustl.edu	37	4	15687994	15687994	+	5'UTR	SNP	G	G	C			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr4:15687994G>C	ENST00000422728.2	+	0	232				FAM200B_ENST00000504137.1_3'UTR	NM_001145191.1	NP_001138663.1	P0CF97	F200B_HUMAN	family with sequence similarity 200, member B								nucleic acid binding (GO:0003676)			endometrium(1)|kidney(1)	2						GAAAATCTAAGATAAATTCCC	0.403																																																	0																																										SO:0001623	5_prime_UTR_variant	285550			BC048993	CCDS47028.1	4p15.32	2014-04-02			ENSG00000237765	ENSG00000237765			27740	protein-coding gene	gene with protein product	"""chromosome 4 open reading frame 53"""						Standard	NM_001145191		Approved	C4orf53	uc003gof.4	P0CF97	OTTHUMG00000160279	ENST00000422728.2:c.-607G>C	4.37:g.15687994G>C				RNA	SNP	-	NULL	ENST00000422728.2	37	NULL	CCDS47028.1	4																																																																																			FAM200B	-	-		0.403	FAM200B-005	PUTATIVE	basic|appris_principal|CCDS	protein_coding	FAM200B	HGNC	protein_coding	OTTHUMT00000360100.1	G	NM_001145191		15687994	+1	no_errors	ENST00000502502	ensembl	human	known	70_37	rna	SNP	0.249	C
FAM204A	63877	genome.wustl.edu	37	10	120070842	120070843	+	Intron	INS	-	-	G	rs535616527|rs397714675|rs34120011	byFrequency	TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr10:120070842_120070843insG	ENST00000369183.4	-	8	803				FAM204A_ENST00000369172.4_Intron|FAM204A_ENST00000469758.1_Intron	NM_022063.2	NP_071346.1	Q9H8W3	F204A_HUMAN	family with sequence similarity 204, member A											kidney(1)|large_intestine(5)|lung(4)|ovary(1)	11						ATTACAAAGGAGAAAAAAAAAG	0.342													?|G|GG|unsure	9	0.00179712	0.0008	0.0	5008	,	,		16961	0.004		0.003	False		,,,				2504	0.001																0																																										SO:0001627	intron_variant	63877			AK023250	CCDS7605.1	10q26.12	2011-06-01	2011-06-01	2011-06-01	ENSG00000165669	ENSG00000165669			25794	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 84"""	C10orf84		12477932	Standard	NM_022063		Approved	FLJ13188, bA319I23.1	uc010qss.1	Q9H8W3	OTTHUMG00000019131	ENST00000369183.4:c.544-17->C	10.37:g.120070843_120070843dupG			D3DRC6|Q5T373|Q9H5V5	RNA	INS	-	NULL	ENST00000369183.4	37	NULL	CCDS7605.1	10																																																																																			FAM204A	-	-		0.342	FAM204A-005	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM204A	HGNC	protein_coding	OTTHUMT00000050596.2	-	NM_022063		120070843	-1	no_errors	ENST00000467890	ensembl	human	known	70_37	rna	INS	0.010:0.002	G
FAM45A	404636	genome.wustl.edu	37	10	120893115	120893115	+	Intron	SNP	C	C	A			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr10:120893115C>A	ENST00000361432.2	+	8	923				FAM45A_ENST00000489988.1_Intron|FAM45A_ENST00000544016.1_Intron|FAM45A_ENST00000535029.1_Intron	NM_207009.2	NP_996892.1	Q8TCE6	FA45A_HUMAN	family with sequence similarity 45, member A											breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	14		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0293)		ggtgctgtgacagaaggggtt	0.468																																																	0																																										SO:0001627	intron_variant	404636			AF168713	CCDS7609.1	10q25	2008-09-04			ENSG00000119979	ENSG00000119979			31793	protein-coding gene	gene with protein product							Standard	NM_207009		Approved			Q8TCE6	OTTHUMG00000019143	ENST00000361432.2:c.897+994C>A	10.37:g.120893115C>A			B1AMV6|B4DDC3|D3DRC8|Q9NXW4	RNA	SNP	-	NULL	ENST00000361432.2	37	NULL	CCDS7609.1	10																																																																																			FAM45A	-	-		0.468	FAM45A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM45A	HGNC	protein_coding	OTTHUMT00000050623.1	C	NM_207009		120893115	+1	no_errors	ENST00000462327	ensembl	human	known	70_37	rna	SNP	0.005	A
FAM53C	51307	genome.wustl.edu	37	5	137673983	137673983	+	5'UTR	SNP	C	C	T			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr5:137673983C>T	ENST00000239906.5	+	0	263				CDC25C_ENST00000513970.1_5'UTR|FAM53C_ENST00000513056.1_5'UTR|FAM53C_ENST00000507506.1_Intron|FAM53C_ENST00000434981.2_Intron	NM_016605.2	NP_057689.1	Q9NYF3	FA53C_HUMAN	family with sequence similarity 53, member C											breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GCCCTGGGAGCTGGAGGAACC	0.706																																																	0																																										SO:0001623	5_prime_UTR_variant	51307			AF251040	CCDS4204.1	5q31	2008-02-05	2004-11-24	2004-11-26	ENSG00000120709	ENSG00000120709			1336	protein-coding gene	gene with protein product		609372	"""chromosome 5 open reading frame 6"""	C5orf6		11087669, 11161817	Standard	NM_001135647		Approved		uc003lcv.3	Q9NYF3	OTTHUMG00000129201	ENST00000239906.5:c.-166C>T	5.37:g.137673983C>T			B2RDJ5|D3DQB9	RNA	SNP	-	NULL	ENST00000239906.5	37	NULL	CCDS4204.1	5																																																																																			FAM53C	-	-		0.706	FAM53C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM53C	HGNC	protein_coding	OTTHUMT00000251278.2	C	NM_016605		137673983	+1	no_errors	ENST00000505768	ensembl	human	known	70_37	rna	SNP	0.989	T
TMEM255B	348013	genome.wustl.edu	37	13	114472664	114472664	+	Intron	SNP	C	C	T	rs375598046	byFrequency	TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr13:114472664C>T	ENST00000375353.3	+	3	279					NM_182614.2	NP_872420.1	Q8WV15	T255B_HUMAN	transmembrane protein 255B							integral component of membrane (GO:0016021)											CCATGATGTTCGTGGCTGTAT	0.473													C|||	12	0.00239617	0.0	0.0	5008	,	,		19410	0.0119		0.0	False		,,,				2504	0.0																0																																										SO:0001627	intron_variant	348013			BC018995	CCDS45071.1	13q34	2012-11-30	2012-11-30	2012-11-30	ENSG00000184497	ENSG00000184497			28297	protein-coding gene	gene with protein product			"""family with sequence similarity 70, member B"""	FAM70B		12477932	Standard	NM_182614		Approved	MGC20579	uc001vuh.3	Q8WV15	OTTHUMG00000017398	ENST00000375353.3:c.252+531C>T	13.37:g.114472664C>T				RNA	SNP	-	NULL	ENST00000375353.3	37	NULL	CCDS45071.1	13																																																																																			FAM70B	-	-		0.473	TMEM255B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM70B	HGNC	protein_coding	OTTHUMT00000045953.4	C	NM_182614		114472664	+1	no_errors	ENST00000483678	ensembl	human	known	70_37	rna	SNP	0.000	T
FBXL19	54620	genome.wustl.edu	37	16	30932382	30932382	+	5'Flank	SNP	G	G	T			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr16:30932382G>T	ENST00000471231.2	+	0	0				FBXL19-AS1_ENST00000563777.1_RNA	NM_001282351.1	NP_001269280.1	Q6PCT2	FXL19_HUMAN	F-box and leucine-rich repeat protein 19						proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)	SCF ubiquitin ligase complex (GO:0019005)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						AAGCCTGAGCGGCAAAGAAGC	0.498																																																	0																																										SO:0001631	upstream_gene_variant	283932			AK127701	CCDS45465.1, CCDS73873.1	16p11.2	2014-02-20			ENSG00000099364	ENSG00000099364		"""F-boxes / Leucine-rich repeats"""	25300	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1C"""	609085					Standard	NM_001099784		Approved	DKFZp434K0410, Fbl19, JHDM1C, CXXC11	uc002eab.2	Q6PCT2	OTTHUMG00000132403		16.37:g.30932382G>T	Exception_encountered		A8MT10|Q8N789|Q9NT14	RNA	SNP	-	NULL	ENST00000471231.2	37	NULL		16																																																																																			FBXL19-AS1	-	-		0.498	FBXL19-004	PUTATIVE	basic|exp_conf	protein_coding	FBXL19-AS1	HGNC	protein_coding	OTTHUMT00000433636.1	G	NM_019085		30932382	-1	no_errors	ENST00000563777	ensembl	human	known	70_37	rna	SNP	0.000	T
FBXW7	55294	genome.wustl.edu	37	4	153244185	153244185	+	Silent	SNP	G	G	T	rs144247898		TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr4:153244185G>T	ENST00000281708.4	-	12	3201	c.1972C>A	c.(1972-1974)Cga>Aga	p.R658R	FBXW7_ENST00000393956.3_Silent_p.R482R|FBXW7_ENST00000296555.5_Silent_p.R540R|FBXW7_ENST00000263981.5_Silent_p.R578R|RP11-461L13.3_ENST00000603766.1_lincRNA|FBXW7_ENST00000603548.1_Silent_p.R658R|FBXW7_ENST00000603841.1_Silent_p.R658R	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	658					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.R658*(3)|p.R578*(1)|p.?(1)|p.R419*(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				ACTAGGTTTCGAATAAATTCA	0.473			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																			Rec	yes		4	4q31.3	55294	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""		"""E, L"""	6	Substitution - Nonsense(5)|Unknown(1)	large_intestine(4)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)											167.0	164.0	165.0					4																	153244185		2203	4300	6503	SO:0001819	synonymous_variant	55294			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1972C>A	4.37:g.153244185G>T			B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Silent	SNP	pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R658	ENST00000281708.4	37	c.1972	CCDS3777.1	4																																																																																			FBXW7	-	smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.473	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW7	HGNC	protein_coding	OTTHUMT00000469956.1	G			153244185	-1	no_errors	ENST00000281708	ensembl	human	known	70_37	silent	SNP	1.000	T
LOC400870	400870	genome.wustl.edu	37	21	44786177	44786177	+	lincRNA	SNP	C	C	T			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr21:44786177C>T	ENST00000435702.1	+	0	2547																											gcccaacactcactctgaagc	0.597																																																	0																																												400870																															21.37:g.44786177C>T				RNA	SNP	-	NULL	ENST00000435702.1	37	NULL		21																																																																																			AP001046.6	-	-		0.597	AP001046.6-001	KNOWN	basic	lincRNA	FLJ41733	Clone_based_vega_gene	lincRNA	OTTHUMT00000195633.1	C			44786177	+1	no_errors	ENST00000435702	ensembl	human	known	70_37	rna	SNP	0.001	T
FLT4	2324	genome.wustl.edu	37	5	180056292	180056292	+	Nonsense_Mutation	SNP	G	G	A	rs146006663		TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr5:180056292G>A	ENST00000261937.6	-	7	1030	c.952C>T	c.(952-954)Cga>Tga	p.R318*	FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Nonsense_Mutation_p.R318*|FLT4_ENST00000393347.3_Nonsense_Mutation_p.R318*	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	318	Ig-like C2-type 3.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TCCCGAAATCGCTGGATGCCG	0.607																																					Colon(97;1075 1466 27033 27547 35871)												0													177.0	154.0	162.0					5																	180056292		2202	4299	6501	SO:0001587	stop_gained	2324			X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.952C>T	5.37:g.180056292G>A	ENSP00000261937:p.Arg318*		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Nonsense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR3_rcpt_N,prints_Tyr_kinase_VEGFR_rcpt_N	p.R318*	ENST00000261937.6	37	c.952	CCDS4457.1	5	.	.	.	.	.	.	.	.	.	.	G	16.31	3.087548	0.55968	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649;ENST00000376868	.	.	.	4.91	-0.892	0.10570	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	.	16.331	0.83014	0.0:0.0:0.289:0.711	.	.	.	.	X	318;318;318;128	.	ENSP00000261937:R318X	R	-	1	2	FLT4	179988898	0.924000	0.31332	0.036000	0.18154	0.052000	0.14988	1.147000	0.31602	-0.077000	0.12752	-0.268000	0.10319	CGA	FLT4	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like		0.607	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLT4	HGNC	protein_coding	OTTHUMT00000253527.4	G			180056292	-1	no_errors	ENST00000261937	ensembl	human	known	70_37	nonsense	SNP	0.008	A
FLT4	2324	genome.wustl.edu	37	5	180056292	180056292	+	Nonsense_Mutation	SNP	G	G	A	rs146006663		TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr5:180056292G>A	ENST00000261937.6	-	7	1030	c.952C>T	c.(952-954)Cga>Tga	p.R318*	FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Nonsense_Mutation_p.R318*|FLT4_ENST00000393347.3_Nonsense_Mutation_p.R318*	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	318	Ig-like C2-type 3.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TCCCGAAATCGCTGGATGCCG	0.607																																					Colon(97;1075 1466 27033 27547 35871)												0													177.0	154.0	162.0					5																	180056292		2202	4299	6501	SO:0001587	stop_gained	2324			X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.952C>T	5.37:g.180056292G>A	ENSP00000261937:p.Arg318*		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Nonsense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR3_rcpt_N,prints_Tyr_kinase_VEGFR_rcpt_N	p.R318*	ENST00000261937.6	37	c.952	CCDS4457.1	5	.	.	.	.	.	.	.	.	.	.	G	16.31	3.087548	0.55968	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649;ENST00000376868	.	.	.	4.91	-0.892	0.10570	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	.	16.331	0.83014	0.0:0.0:0.289:0.711	.	.	.	.	X	318;318;318;128	.	ENSP00000261937:R318X	R	-	1	2	FLT4	179988898	0.924000	0.31332	0.036000	0.18154	0.052000	0.14988	1.147000	0.31602	-0.077000	0.12752	-0.268000	0.10319	CGA	FLT4	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like		0.607	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLT4	HGNC	protein_coding	OTTHUMT00000253527.4	G			180056292	-1	no_errors	ENST00000261937	ensembl	human	known	70_37	nonsense	SNP	0.008	A
FLVCR1	28982	genome.wustl.edu	37	1	213029993	213029993	+	5'Flank	SNP	C	C	G			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr1:213029993C>G	ENST00000366971.4	+	0	0				FLVCR1-AS1_ENST00000356684.3_lincRNA	NM_014053.3	NP_054772.1	Q9Y5Y0	FLVC1_HUMAN	feline leukemia virus subgroup C cellular receptor 1						blood vessel development (GO:0001568)|cell death (GO:0008219)|cellular iron ion homeostasis (GO:0006879)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|erythrocyte differentiation (GO:0030218)|erythrocyte maturation (GO:0043249)|head morphogenesis (GO:0060323)|heme export (GO:0097037)|heme transport (GO:0015886)|in utero embryonic development (GO:0001701)|mitochondrial transport (GO:0006839)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|regulation of organ growth (GO:0046620)|spleen development (GO:0048536)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	heme transporter activity (GO:0015232)|transporter activity (GO:0005215)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2)	12				OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11)		tttttattCTCCAGATCTCAA	0.413																																					Esophageal Squamous(199;2235 2952 19233 26256)												0																																										SO:0001631	upstream_gene_variant	642946			AF118637	CCDS1510.1	1q32.3	2014-05-30			ENSG00000162769	ENSG00000162769		"""Solute carriers"""	24682	protein-coding gene	gene with protein product		609144	"""ataxia, posterior column 1, with retinitis pigmentosa"""	AXPC1		10400745, 10648427, 21070897	Standard	NM_014053		Approved	FLVCR, MFSD7B, PCA	uc001hjt.3	Q9Y5Y0	OTTHUMG00000036924		1.37:g.213029993C>G	Exception_encountered		Q1HE16|Q86XY9|Q9NVR9	RNA	SNP	-	NULL	ENST00000366971.4	37	NULL	CCDS1510.1	1																																																																																			FLVCR1-AS1	-	-		0.413	FLVCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLVCR1-AS1	HGNC	protein_coding	OTTHUMT00000089678.2	C	NM_014053		213029993	-1	no_errors	ENST00000424044	ensembl	human	known	70_37	rna	SNP	0.001	G
FRMD4B	23150	genome.wustl.edu	37	3	69336920	69336920	+	Missense_Mutation	SNP	T	T	C			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr3:69336920T>C	ENST00000398540.3	-	5	567	c.484A>G	c.(484-486)Aag>Gag	p.K162E	FRMD4B_ENST00000542259.1_Missense_Mutation_p.K108E	NM_015123.1	NP_055938	Q9Y2L6	FRM4B_HUMAN	FERM domain containing 4B	162	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|ruffle (GO:0001726)				NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2)	19		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		ACACAGGCCTTTGCATTCAGG	0.458																																																	0													79.0	82.0	81.0					3																	69336920		1903	4123	6026	SO:0001583	missense	23150			AL832231	CCDS46863.1	3p14.2	2006-04-12			ENSG00000114541	ENSG00000114541			24886	protein-coding gene	gene with protein product						10231032, 11445584	Standard	XM_005264720		Approved	KIAA1013, GRSP1	uc003dnv.2	Q9Y2L6	OTTHUMG00000158772	ENST00000398540.3:c.484A>G	3.37:g.69336920T>C	ENSP00000381549:p.Lys162Glu		Q8TAI3	Missense_Mutation	SNP	pfam_DUF3338,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam	p.K162E	ENST00000398540.3	37	c.484	CCDS46863.1	3	.	.	.	.	.	.	.	.	.	.	T	14.95	2.689330	0.48097	.	.	ENSG00000114541	ENST00000398540;ENST00000542259;ENST00000493880;ENST00000473029;ENST00000460709;ENST00000459638	T;T;T;T;T;D	0.87887	0.94;-1.47;0.94;0.94;0.94;-2.31	5.76	4.6	0.57074	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.103408	0.64402	N	0.000005	D	0.93318	0.7870	M	0.87758	2.905	0.42017	D	0.990962	D;D	0.71674	0.996;0.998	D;D	0.74348	0.93;0.983	D	0.93553	0.6888	10	0.87932	D	0	-23.5433	10.8584	0.46812	0.0:0.075:0.0:0.925	.	267;162	Q6PEW6;Q9Y2L6	.;FRM4B_HUMAN	E	162;108;53;108;108;108	ENSP00000381549:K162E;ENSP00000437658:K108E;ENSP00000418962:K53E;ENSP00000418373:K108E;ENSP00000418023:K108E;ENSP00000417550:K108E	ENSP00000381549:K162E	K	-	1	0	FRMD4B	69419610	1.000000	0.71417	0.880000	0.34516	0.136000	0.21042	6.360000	0.73064	1.017000	0.39495	-0.256000	0.11100	AAG	FRMD4B	-	pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain		0.458	FRMD4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMD4B	HGNC	protein_coding	OTTHUMT00000352111.1	T			69336920	-1	no_errors	ENST00000398540	ensembl	human	known	70_37	missense	SNP	0.992	C
FRMD4B	23150	genome.wustl.edu	37	3	69336920	69336920	+	Missense_Mutation	SNP	T	T	C			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr3:69336920T>C	ENST00000398540.3	-	5	567	c.484A>G	c.(484-486)Aag>Gag	p.K162E	FRMD4B_ENST00000542259.1_Missense_Mutation_p.K108E	NM_015123.1	NP_055938	Q9Y2L6	FRM4B_HUMAN	FERM domain containing 4B	162	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|ruffle (GO:0001726)				NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2)	19		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		ACACAGGCCTTTGCATTCAGG	0.458																																																	0													79.0	82.0	81.0					3																	69336920		1903	4123	6026	SO:0001583	missense	23150			AL832231	CCDS46863.1	3p14.2	2006-04-12			ENSG00000114541	ENSG00000114541			24886	protein-coding gene	gene with protein product						10231032, 11445584	Standard	XM_005264720		Approved	KIAA1013, GRSP1	uc003dnv.2	Q9Y2L6	OTTHUMG00000158772	ENST00000398540.3:c.484A>G	3.37:g.69336920T>C	ENSP00000381549:p.Lys162Glu		Q8TAI3	Missense_Mutation	SNP	pfam_DUF3338,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam	p.K162E	ENST00000398540.3	37	c.484	CCDS46863.1	3	.	.	.	.	.	.	.	.	.	.	T	14.95	2.689330	0.48097	.	.	ENSG00000114541	ENST00000398540;ENST00000542259;ENST00000493880;ENST00000473029;ENST00000460709;ENST00000459638	T;T;T;T;T;D	0.87887	0.94;-1.47;0.94;0.94;0.94;-2.31	5.76	4.6	0.57074	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.103408	0.64402	N	0.000005	D	0.93318	0.7870	M	0.87758	2.905	0.42017	D	0.990962	D;D	0.71674	0.996;0.998	D;D	0.74348	0.93;0.983	D	0.93553	0.6888	10	0.87932	D	0	-23.5433	10.8584	0.46812	0.0:0.075:0.0:0.925	.	267;162	Q6PEW6;Q9Y2L6	.;FRM4B_HUMAN	E	162;108;53;108;108;108	ENSP00000381549:K162E;ENSP00000437658:K108E;ENSP00000418962:K53E;ENSP00000418373:K108E;ENSP00000418023:K108E;ENSP00000417550:K108E	ENSP00000381549:K162E	K	-	1	0	FRMD4B	69419610	1.000000	0.71417	0.880000	0.34516	0.136000	0.21042	6.360000	0.73064	1.017000	0.39495	-0.256000	0.11100	AAG	FRMD4B	-	pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain		0.458	FRMD4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMD4B	HGNC	protein_coding	OTTHUMT00000352111.1	T			69336920	-1	no_errors	ENST00000398540	ensembl	human	known	70_37	missense	SNP	0.992	C
FTCD	10841	genome.wustl.edu	37	21	47565416	47565416	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr21:47565416C>T	ENST00000291670.5	-	10	1218	c.1175G>A	c.(1174-1176)cGg>cAg	p.R392Q	FTCD_ENST00000397748.1_Missense_Mutation_p.R392Q|FTCD_ENST00000397743.1_Missense_Mutation_p.R392Q|FTCD_ENST00000397746.3_Missense_Mutation_p.R392Q|FTCD_ENST00000498355.2_5'UTR|FTCD_ENST00000359679.2_Missense_Mutation_p.R392Q|FTCD_ENST00000355384.2_Missense_Mutation_p.R392Q	NM_006657.2	NP_006648.1	O95954	FTCD_HUMAN	formimidoyltransferase cyclodeaminase	392	Cyclodeaminase/cyclohydrolase. {ECO:0000250}.				cellular nitrogen compound metabolic process (GO:0034641)|cytoskeleton organization (GO:0007010)|folic acid-containing compound metabolic process (GO:0006760)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	folic acid binding (GO:0005542)|formimidoyltetrahydrofolate cyclodeaminase activity (GO:0030412)|glutamate formimidoyltransferase activity (GO:0030409)			endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	Tetrahydrofolic acid(DB00116)	GATCAGGCGCCGCATCGTCGT	0.697																																																	0													14.0	14.0	14.0					21																	47565416		2115	4191	6306	SO:0001583	missense	10841			U91541	CCDS13731.1	21q22.3	2013-06-10	2013-06-10		ENSG00000160282	ENSG00000160282	2.1.2.5, 4.3.1.4		3974	protein-coding gene	gene with protein product		606806	"""formiminotransferase cyclodeaminase"""			10029623, 10773664	Standard	NM_006657		Approved		uc002zif.3	O95954	OTTHUMG00000090488	ENST00000291670.5:c.1175G>A	21.37:g.47565416C>T	ENSP00000291670:p.Arg392Gln		B9EGD0|Q86V03|Q9HCT4|Q9HCT5|Q9HCT6|Q9UHJ2	Missense_Mutation	SNP	pfam_Formiminotransferase_N,pfam_Formiminotransferase_C,pfam_Cyclodeamin/CycHdrlase,superfamily_FormiminoTrfase_N/C_subdom,superfamily_Cyclodeamin/CycHdrlase,tigrfam_Formiminotransferase_cat	p.R392Q	ENST00000291670.5	37	c.1175	CCDS13731.1	21	.	.	.	.	.	.	.	.	.	.	C	16.47	3.132306	0.56828	.	.	ENSG00000160282	ENST00000291670;ENST00000397748;ENST00000359679;ENST00000355384;ENST00000397746;ENST00000397743	T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96	4.38	4.38	0.52667	Cyclodeaminase/cyclohydrolase (2);	0.000000	0.85682	D	0.000000	T	0.43478	0.1249	L	0.57536	1.79	0.54753	D	0.99998	D;D;P	0.65815	0.995;0.969;0.954	B;B;B	0.43809	0.432;0.144;0.164	T	0.44877	-0.9299	10	0.33141	T	0.24	.	17.3121	0.87212	0.0:1.0:0.0:0.0	.	392;392;392	B7WPK3;O95954-2;O95954	.;.;FTCD_HUMAN	Q	392	ENSP00000291670:R392Q;ENSP00000380856:R392Q;ENSP00000352707:R392Q;ENSP00000347545:R392Q;ENSP00000380854:R392Q;ENSP00000380851:R392Q	ENSP00000291670:R392Q	R	-	2	0	FTCD	46389844	1.000000	0.71417	1.000000	0.80357	0.459000	0.32528	4.567000	0.60850	2.174000	0.68829	0.411000	0.27672	CGG	FTCD	-	pfam_Cyclodeamin/CycHdrlase,superfamily_Cyclodeamin/CycHdrlase		0.697	FTCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	FTCD	HGNC	protein_coding	OTTHUMT00000206962.1	C	NM_006657		47565416	-1	no_errors	ENST00000359679	ensembl	human	known	70_37	missense	SNP	1.000	T
FUS	2521	genome.wustl.edu	37	16	31201644	31201644	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr16:31201644G>T	ENST00000254108.7	+	12	1322	c.1217G>T	c.(1216-1218)gGc>gTc	p.G406V	FUS_ENST00000474990.1_3'UTR|FUS_ENST00000568685.1_Missense_Mutation_p.G407V|FUS_ENST00000380244.3_Missense_Mutation_p.G405V	NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	P35637	FUS_HUMAN	FUS RNA binding protein	406	Arg/Gly-rich.				cell death (GO:0008219)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		ggtggtggtggccgaggagga	0.537			T	"""DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"""	"""liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"""																																			Dom	yes		16	16p11.2	2521	"""fusion, derived from t(12;16) malignant liposarcoma"""		"""M, L"""	0													152.0	109.0	124.0					16																	31201644		2197	4300	6497	SO:0001583	missense	2521			AF071213	CCDS10707.1, CCDS58454.1	16p11.2	2014-09-17	2014-05-09		ENSG00000089280	ENSG00000089280		"""RNA binding motif (RRM) containing"""	4010	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein P2"", ""translocated in liposarcoma"""	137070	"""fusion, derived from t(12;16) malignant liposarcoma"", ""amyotrophic lateral sclerosis 6"", ""fusion (involved in t(12;16) in malignant liposarcoma)"", ""fused in sarcoma"""	ALS6		2372777, 7503811, 19251628, 19251627	Standard	NM_004960		Approved	TLS, FUS1, hnRNP-P2, HNRNPP2	uc002ebe.2	P35637	OTTHUMG00000132395	ENST00000254108.7:c.1217G>T	16.37:g.31201644G>T	ENSP00000254108:p.Gly406Val		Q9H4A8	Missense_Mutation	SNP	pfam_Znf_RanBP2,pfam_RRM_dom,smart_RRM_dom,smart_Znf_RanBP2,pfscan_Znf_RanBP2,pfscan_RRM_dom	p.G406V	ENST00000254108.7	37	c.1217	CCDS10707.1	16	.	.	.	.	.	.	.	.	.	.	G	13.18	2.158801	0.38119	.	.	ENSG00000089280	ENST00000254108;ENST00000380244;ENST00000394533	D	0.97209	-4.29	5.31	4.35	0.52113	.	0.453384	0.22649	N	0.057342	D	0.94434	0.8209	L	0.40543	1.245	0.80722	D	1	B;B;B;B;B;B	0.31680	0.335;0.321;0.115;0.184;0.321;0.115	B;B;B;B;B;B	0.31812	0.133;0.136;0.062;0.131;0.136;0.062	D	0.92764	0.6226	10	0.42905	T	0.14	-7.5051	14.3001	0.66341	0.0:0.0:0.85:0.15	.	405;406;406;405;180;406	A8K4H1;Q8TBR3;Q6IBQ5;P35637-2;Q59H57;P35637	.;.;.;.;.;FUS_HUMAN	V	406;133;335	ENSP00000254108:G406V	ENSP00000254108:G406V	G	+	2	0	FUS	31109145	1.000000	0.71417	0.982000	0.44146	0.253000	0.25986	9.102000	0.94226	1.218000	0.43458	-0.169000	0.13324	GGC	FUS	-	NULL		0.537	FUS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FUS	HGNC	protein_coding	OTTHUMT00000255526.2	G	NM_004960		31201644	+1	no_errors	ENST00000254108	ensembl	human	known	70_37	missense	SNP	0.998	T
GALNT9	50614	genome.wustl.edu	37	12	132811487	132811487	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr12:132811487C>A	ENST00000535228.1	-	3	264	c.201G>T	c.(199-201)gaG>gaT	p.E67D	GALNT9_ENST00000328957.8_Intron			Q9HCQ5	GALT9_HUMAN	polypeptide N-acetylgalactosaminyltransferase 9	0					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)		CTCTATGGGCCTCGGACCTGC	0.602																																					Colon(186;2147 2752 13553 41466)												0																																										SO:0001583	missense	50614			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	ENST00000535228.1:c.201G>T	12.37:g.132811487C>A	ENSP00000439745:p.Glu67Asp		Q52LR8|Q6NT54|Q8NFR1	Missense_Mutation	SNP	pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.E67D	ENST00000535228.1	37	c.201		12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	4.620|4.620	0.115232|0.115232	0.08831|0.08831	.|.	.|.	ENSG00000182870|ENSG00000182870	ENST00000535228|ENST00000411988	T|.	0.78126|.	-1.15|.	0.552|0.552	-1.1|-1.1	0.09872|0.09872	.|.	.|.	.|.	.|.	.|.	T|T	0.20088|0.20088	0.0483|0.0483	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B|.	0.17667|.	0.023|.	B|.	0.09377|.	0.004|.	T|T	0.21690|0.21690	-1.0238|-1.0238	7|3	0.02654|.	T|.	1|.	.|.	.|.	.|.	.|.	.|.	67|.	B3KNR7|.	.|.	D|C	67|89	ENSP00000439745:E67D|.	ENSP00000439745:E67D|.	E|G	-|-	3|1	2|0	GALNT9|GALNT9	131321560|131321560	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.052000|0.052000	0.14988|0.14988	-0.168000|-0.168000	0.09925|0.09925	-1.231000|-1.231000	0.02557|0.02557	0.197000|0.197000	0.17608|0.17608	GAG|GGC	GALNT9	-	NULL		0.602	GALNT9-201	KNOWN	basic	protein_coding	GALNT9	HGNC	protein_coding		C	NM_001122636		132811487	-1	no_errors	ENST00000535228	ensembl	human	known	70_37	missense	SNP	0.001	A
GMPR	2766	genome.wustl.edu	37	6	16295255	16295255	+	Silent	SNP	T	T	G			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr6:16295255T>G	ENST00000259727.4	+	9	990	c.876T>G	c.(874-876)acT>acG	p.T292T	GMPR_ENST00000544145.1_3'UTR	NM_006877.3	NP_006868.3	P36959	GMPR1_HUMAN	guanosine monophosphate reductase	292					nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to cold (GO:0009409)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|GMP reductase complex (GO:1902560)	GMP reductase activity (GO:0003920)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	20	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)				AGGGTAAGACTGTGGAAGTTC	0.502																																																	0													70.0	72.0	71.0					6																	16295255		2203	4300	6503	SO:0001819	synonymous_variant	2766				CCDS4537.1	6p23	2009-07-10			ENSG00000137198	ENSG00000137198	1.7.1.7		4376	protein-coding gene	gene with protein product		139265				2194676	Standard	NM_006877		Approved		uc003nbs.3	P36959	OTTHUMG00000014302	ENST00000259727.4:c.876T>G	6.37:g.16295255T>G			Q96HQ6	Silent	SNP	pfam_IMP_DH_GMPRt,pirsf_GMP_reduct1,tigrfam_GMP_reduct1	p.T292	ENST00000259727.4	37	c.876	CCDS4537.1	6																																																																																			GMPR	-	pfam_IMP_DH_GMPRt,pirsf_GMP_reduct1,tigrfam_GMP_reduct1		0.502	GMPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GMPR	HGNC	protein_coding	OTTHUMT00000039942.2	T			16295255	+1	no_errors	ENST00000259727	ensembl	human	known	70_37	silent	SNP	0.015	G
GMPR	2766	genome.wustl.edu	37	6	16295255	16295255	+	Silent	SNP	T	T	G			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr6:16295255T>G	ENST00000259727.4	+	9	990	c.876T>G	c.(874-876)acT>acG	p.T292T	GMPR_ENST00000544145.1_3'UTR	NM_006877.3	NP_006868.3	P36959	GMPR1_HUMAN	guanosine monophosphate reductase	292					nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to cold (GO:0009409)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|GMP reductase complex (GO:1902560)	GMP reductase activity (GO:0003920)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	20	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)				AGGGTAAGACTGTGGAAGTTC	0.502																																																	0													70.0	72.0	71.0					6																	16295255		2203	4300	6503	SO:0001819	synonymous_variant	2766				CCDS4537.1	6p23	2009-07-10			ENSG00000137198	ENSG00000137198	1.7.1.7		4376	protein-coding gene	gene with protein product		139265				2194676	Standard	NM_006877		Approved		uc003nbs.3	P36959	OTTHUMG00000014302	ENST00000259727.4:c.876T>G	6.37:g.16295255T>G			Q96HQ6	Silent	SNP	pfam_IMP_DH_GMPRt,pirsf_GMP_reduct1,tigrfam_GMP_reduct1	p.T292	ENST00000259727.4	37	c.876	CCDS4537.1	6																																																																																			GMPR	-	pfam_IMP_DH_GMPRt,pirsf_GMP_reduct1,tigrfam_GMP_reduct1		0.502	GMPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GMPR	HGNC	protein_coding	OTTHUMT00000039942.2	T			16295255	+1	no_errors	ENST00000259727	ensembl	human	known	70_37	silent	SNP	0.015	G
GON4L	54856	genome.wustl.edu	37	1	155753850	155753850	+	Nonsense_Mutation	SNP	C	C	A			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr1:155753850C>A	ENST00000368331.1	-	14	1867	c.1819G>T	c.(1819-1821)Gaa>Taa	p.E607*	GON4L_ENST00000437809.1_Nonsense_Mutation_p.E607*|GON4L_ENST00000271883.5_Nonsense_Mutation_p.E607*|GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000361040.5_Nonsense_Mutation_p.E607*	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	607					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					CCATCATCTTCCATGTTGGAG	0.502																																																	0													161.0	129.0	140.0					1																	155753850		2203	4300	6503	SO:0001587	stop_gained	54856			AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.1819G>T	1.37:g.155753850C>A	ENSP00000357315:p.Glu607*		B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Nonsense_Mutation	SNP	pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom	p.E607*	ENST00000368331.1	37	c.1819		1	.	.	.	.	.	.	.	.	.	.	C	40	7.944596	0.98574	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883;ENST00000539959;ENST00000361040;ENST00000368327	.	.	.	4.57	4.57	0.56435	.	0.119039	0.56097	D	0.000028	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	17.4967	0.87719	0.0:1.0:0.0:0.0	.	.	.	.	X	607;607;607;607;607;86	.	ENSP00000271883:E607X	E	-	1	0	GON4L	154020474	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.013000	0.57138	2.534000	0.85438	0.591000	0.81541	GAA	GON4L	-	NULL		0.502	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	GON4L	HGNC	protein_coding		C	NM_032292		155753850	-1	no_errors	ENST00000368331	ensembl	human	known	70_37	nonsense	SNP	1.000	A
GON4L	54856	genome.wustl.edu	37	1	155753850	155753850	+	Nonsense_Mutation	SNP	C	C	A			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr1:155753850C>A	ENST00000368331.1	-	14	1867	c.1819G>T	c.(1819-1821)Gaa>Taa	p.E607*	GON4L_ENST00000437809.1_Nonsense_Mutation_p.E607*|GON4L_ENST00000271883.5_Nonsense_Mutation_p.E607*|GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000361040.5_Nonsense_Mutation_p.E607*	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	607					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					CCATCATCTTCCATGTTGGAG	0.502																																																	0													161.0	129.0	140.0					1																	155753850		2203	4300	6503	SO:0001587	stop_gained	54856			AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.1819G>T	1.37:g.155753850C>A	ENSP00000357315:p.Glu607*		B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Nonsense_Mutation	SNP	pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom	p.E607*	ENST00000368331.1	37	c.1819		1	.	.	.	.	.	.	.	.	.	.	C	40	7.944596	0.98574	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883;ENST00000539959;ENST00000361040;ENST00000368327	.	.	.	4.57	4.57	0.56435	.	0.119039	0.56097	D	0.000028	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	17.4967	0.87719	0.0:1.0:0.0:0.0	.	.	.	.	X	607;607;607;607;607;86	.	ENSP00000271883:E607X	E	-	1	0	GON4L	154020474	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.013000	0.57138	2.534000	0.85438	0.591000	0.81541	GAA	GON4L	-	NULL		0.502	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	GON4L	HGNC	protein_coding		C	NM_032292		155753850	-1	no_errors	ENST00000368331	ensembl	human	known	70_37	nonsense	SNP	1.000	A
GON4L	54856	genome.wustl.edu	37	1	155754392	155754392	+	Intron	SNP	C	C	G			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr1:155754392C>G	ENST00000368331.1	-	14	1837				GON4L_ENST00000437809.1_Intron|GON4L_ENST00000271883.5_Intron|GON4L_ENST00000471341.1_Intron|GON4L_ENST00000361040.5_Intron	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)						regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					aggctggtctcaaactcctga	0.502																																																	0																																										SO:0001627	intron_variant	54856			AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.1789-512G>C	1.37:g.155754392C>G			B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	RNA	SNP	-	NULL	ENST00000368331.1	37	NULL		1																																																																																			GON4L	-	-		0.502	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	GON4L	HGNC	protein_coding		C	NM_032292		155754392	-1	no_errors	ENST00000467009	ensembl	human	known	70_37	rna	SNP	0.001	G
GON4L	54856	genome.wustl.edu	37	1	155755146	155755146	+	Silent	SNP	C	C	T			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr1:155755146C>T	ENST00000368331.1	-	13	1815	c.1767G>A	c.(1765-1767)ctG>ctA	p.L589L	GON4L_ENST00000437809.1_Silent_p.L589L|GON4L_ENST00000271883.5_Silent_p.L589L|GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000361040.5_Silent_p.L589L	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	589					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					GCTCTTCCATCAGCTCATTTA	0.373																																																	0													196.0	174.0	182.0					1																	155755146		2203	4300	6503	SO:0001819	synonymous_variant	54856			AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.1767G>A	1.37:g.155755146C>T			B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Silent	SNP	pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom	p.L589	ENST00000368331.1	37	c.1767		1																																																																																			GON4L	-	NULL		0.373	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	GON4L	HGNC	protein_coding		C	NM_032292		155755146	-1	no_errors	ENST00000368331	ensembl	human	known	70_37	silent	SNP	1.000	T
GON4L	54856	genome.wustl.edu	37	1	155755146	155755146	+	Silent	SNP	C	C	T			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr1:155755146C>T	ENST00000368331.1	-	13	1815	c.1767G>A	c.(1765-1767)ctG>ctA	p.L589L	GON4L_ENST00000437809.1_Silent_p.L589L|GON4L_ENST00000271883.5_Silent_p.L589L|GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000361040.5_Silent_p.L589L	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	589					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					GCTCTTCCATCAGCTCATTTA	0.373																																																	0													196.0	174.0	182.0					1																	155755146		2203	4300	6503	SO:0001819	synonymous_variant	54856			AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.1767G>A	1.37:g.155755146C>T			B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Silent	SNP	pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom	p.L589	ENST00000368331.1	37	c.1767		1																																																																																			GON4L	-	NULL		0.373	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	GON4L	HGNC	protein_coding		C	NM_032292		155755146	-1	no_errors	ENST00000368331	ensembl	human	known	70_37	silent	SNP	1.000	T
GRIA3	2892	genome.wustl.edu	37	X	122387320	122387320	+	Silent	SNP	G	G	A			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chrX:122387320G>A	ENST00000371251.1	+	3	487	c.435G>A	c.(433-435)ttG>ttA	p.L145L	GRIA3_ENST00000541091.1_Silent_p.L129L|GRIA3_ENST00000542149.1_Silent_p.L145L|GRIA3_ENST00000479118.1_3'UTR|GRIA3_ENST00000264357.5_Silent_p.L145L|GRIA3_ENST00000371256.5_Silent_p.L145L			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	145					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)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	GCCCAGCCTTGAAGGGCGCTA	0.532																																																	0													107.0	91.0	96.0					X																	122387320		2203	4300	6503	SO:0001819	synonymous_variant	2892			U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4573	protein-coding gene	gene with protein product		305915	"""glutamate receptor, ionotrophic, AMPA 3"""	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.435G>A	X.37:g.122387320G>A			D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Silent	SNP	pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.L145	ENST00000371251.1	37	c.435	CCDS14604.1	X																																																																																			GRIA3	-	pfam_ANF_lig-bd_rcpt		0.532	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIA3	HGNC	protein_coding	OTTHUMT00000058854.1	G	NM_000828		122387320	+1	no_errors	ENST00000264357	ensembl	human	known	70_37	silent	SNP	0.995	A
GRIA3	2892	genome.wustl.edu	37	X	122387320	122387320	+	Silent	SNP	G	G	A			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chrX:122387320G>A	ENST00000371251.1	+	3	487	c.435G>A	c.(433-435)ttG>ttA	p.L145L	GRIA3_ENST00000541091.1_Silent_p.L129L|GRIA3_ENST00000542149.1_Silent_p.L145L|GRIA3_ENST00000479118.1_3'UTR|GRIA3_ENST00000264357.5_Silent_p.L145L|GRIA3_ENST00000371256.5_Silent_p.L145L			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	145					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)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	GCCCAGCCTTGAAGGGCGCTA	0.532																																																	0													107.0	91.0	96.0					X																	122387320		2203	4300	6503	SO:0001819	synonymous_variant	2892			U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4573	protein-coding gene	gene with protein product		305915	"""glutamate receptor, ionotrophic, AMPA 3"""	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.435G>A	X.37:g.122387320G>A			D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Silent	SNP	pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.L145	ENST00000371251.1	37	c.435	CCDS14604.1	X																																																																																			GRIA3	-	pfam_ANF_lig-bd_rcpt		0.532	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIA3	HGNC	protein_coding	OTTHUMT00000058854.1	G	NM_000828		122387320	+1	no_errors	ENST00000264357	ensembl	human	known	70_37	silent	SNP	0.995	A
HERC2	8924	genome.wustl.edu	37	15	28566548	28566548	+	Missense_Mutation	SNP	T	T	C	rs201990459		TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr15:28566548T>C	ENST00000261609.7	-	2	140	c.32A>G	c.(31-33)cAg>cGg	p.Q11R	HERC2_ENST00000563945.1_5'UTR	NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GAGGCGAGCCTGGGCAGCCAA	0.463																																																	0													7.0	11.0	9.0					15																	28566548		1064	2127	3191	SO:0001583	missense	8924			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.32A>G	15.37:g.28566548T>C	ENSP00000261609:p.Gln11Arg			Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5,superfamily_UBA-like,superfamily_CUB,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5,prints_Reg_chr_condens	p.Q11R	ENST00000261609.7	37	c.32	CCDS10021.1	15	.	.	.	.	.	.	.	.	.	.	T	21.6	4.166421	0.78339	.	.	ENSG00000128731	ENST00000261609	T	0.39056	1.1	4.31	4.31	0.51392	.	0.000000	0.56097	U	0.000022	T	0.37348	0.1000	L	0.47716	1.5	0.44207	D	0.997032	D	0.53885	0.963	P	0.44359	0.447	T	0.17048	-1.0382	10	0.41790	T	0.15	.	9.9302	0.41517	0.0:0.0:0.0:1.0	.	11	O95714	HERC2_HUMAN	R	11	ENSP00000261609:Q11R	ENSP00000261609:Q11R	Q	-	2	0	HERC2	26240143	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.473000	0.53122	1.587000	0.49959	0.369000	0.22263	CAG	HERC2	-	NULL		0.463	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC2	HGNC	protein_coding	OTTHUMT00000251358.2	T	NM_004667		28566548	-1	no_errors	ENST00000261609	ensembl	human	known	70_37	missense	SNP	1.000	C
HERC3	8916	genome.wustl.edu	37	4	89628057	89628057	+	Silent	SNP	G	G	T			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr4:89628057G>T	ENST00000402738.1	+	26	3338	c.3099G>T	c.(3097-3099)ctG>ctT	p.L1033L	HERC3_ENST00000543130.1_Silent_p.L477L|HERC3_ENST00000264345.3_Silent_p.L1033L|FAM13A-AS1_ENST00000500765.1_RNA	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	1033	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		AAGAGATTCTGAGTGCCCGGC	0.547											OREG0016265	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													87.0	84.0	85.0					4																	89628057		2203	4300	6503	SO:0001819	synonymous_variant	8916			D25215	CCDS34028.1	4q21	2012-02-23	2012-02-23		ENSG00000138641	ENSG00000138641			4876	protein-coding gene	gene with protein product		605200	"""hect domain and RLD 3"""			10702688	Standard	NM_014606		Approved	KIAA0032	uc003hrw.2	Q15034	OTTHUMG00000150436	ENST00000402738.1:c.3099G>T	4.37:g.89628057G>T		1268	A8K1S5|Q8IXX3	Silent	SNP	pfam_Reg_chr_condens,pfam_HECT,superfamily_HECT,superfamily_Reg_csome_cond/b-lactamase_inh,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.L1033	ENST00000402738.1	37	c.3099	CCDS34028.1	4																																																																																			HERC3	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT		0.547	HERC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC3	HGNC	protein_coding	OTTHUMT00000318081.2	G	NM_014606		89628057	+1	no_errors	ENST00000264345	ensembl	human	known	70_37	silent	SNP	0.991	T
HIRIP3	8479	genome.wustl.edu	37	16	30005773	30005773	+	Silent	SNP	G	G	T			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr16:30005773G>T	ENST00000279392.3	-	4	1523	c.693C>A	c.(691-693)atC>atA	p.I231I	HIRIP3_ENST00000564026.1_Intron|INO80E_ENST00000567254.1_5'Flank|INO80E_ENST00000567705.1_5'Flank|INO80E_ENST00000563197.1_5'Flank|INO80E_ENST00000304516.7_5'Flank|HIRIP3_ENST00000566471.1_5'Flank	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3	231	Glu-rich.				chromatin assembly or disassembly (GO:0006333)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						TCTGGGCTAGGATCTCCTCTT	0.498																																																	0													198.0	184.0	189.0					16																	30005773		2197	4300	6497	SO:0001819	synonymous_variant	8479			AJ223351	CCDS10664.1, CCDS58449.1	16p12.1	2008-02-05	2001-11-29		ENSG00000149929	ENSG00000149929			4917	protein-coding gene	gene with protein product		603365	"""HIRA-interacting protein 3"""			9710638	Standard	NM_003609		Approved		uc002dve.3	Q9BW71	OTTHUMG00000132118	ENST00000279392.3:c.693C>A	16.37:g.30005773G>T			H3BSR3|O75707|O75708	Silent	SNP	pfam_Histone_chaperone_domain_CHZ	p.I231	ENST00000279392.3	37	c.693	CCDS10664.1	16																																																																																			HIRIP3	-	NULL		0.498	HIRIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIRIP3	HGNC	protein_coding	OTTHUMT00000255160.2	G	NM_003609		30005773	-1	no_errors	ENST00000279392	ensembl	human	known	70_37	silent	SNP	0.001	T
HLA-B	3106	genome.wustl.edu	37	6	31324496	31324496	+	Missense_Mutation	SNP	G	G	T	rs2308559|rs540530530|rs66473235	byFrequency	TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr6:31324496G>T	ENST00000412585.2	-	2	340	c.312C>A	c.(310-312)aaC>aaA	p.N104K		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	104	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)	p.N104K(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						AGCCGCGCAGGTTCCGCAGGC	0.692									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of																																								1	Substitution - Missense(1)	prostate(1)						G	LYS/ASN	14,4158		0,14,2072	44.0	46.0	46.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	312	1.4	0.0	6	dbSNP_123	46	57,8235		0,57,4089	no	missense	HLA-B	NM_005514.6	94	0,71,6161	TT,TG,GG		0.6874,0.3356,0.5696		104/363	31324496	71,12393	2086	4146	6232	SO:0001583	missense	3106	Familial Cancer Database	;Lichen Sclerosis, Familial	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4932	protein-coding gene	gene with protein product		142830	"""ankylosing spondylitis"""	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.312C>A	6.37:g.31324496G>T	ENSP00000399168:p.Asn104Lys		Q29764	Missense_Mutation	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2	p.N104K	ENST00000412585.2	37	c.312	CCDS34394.1	6	.	.	.	.	.	.	.	.	.	.	N	11.01	1.513634	0.27123	0.003356	0.006874	ENSG00000234745	ENST00000412585;ENST00000434333	T;T	0.00686	5.85;5.85	3.2	1.36	0.22044	MHC class I, alpha chain, alpha1/alpha2 (4);MHC classes I/II-like antigen recognition protein (2);MHC class I-like antigen recognition (2);	0.720518	0.10376	U	0.682146	T	0.00695	0.0023	M	0.73430	2.235	0.09310	N	1	P;P;P	0.44816	0.662;0.525;0.844	B;P;P	0.49332	0.222;0.474;0.607	T	0.47535	-0.9110	10	0.46703	T	0.11	.	4.6229	0.12463	0.1304:0.226:0.6436:0.0	rs2308559;rs3180129;rs3206801;rs9264667;rs11547354	104;104;79	P30480;P01889;Q92671	1B42_HUMAN;1B07_HUMAN;.	K	104;115	ENSP00000399168:N104K;ENSP00000405931:N115K	ENSP00000399168:N104K	N	-	3	2	HLA-B	31432475	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.387000	0.07361	0.201000	0.20466	0.448000	0.29417	AAC	HLA-B	-	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,prints_MHC_I_a_a1/a2		0.692	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-B	HGNC	protein_coding	OTTHUMT00000076280.4	G	NM_005514		31324496	-1	no_errors	ENST00000412585	ensembl	human	known	70_37	missense	SNP	0.000	T
HLA-V	352962	genome.wustl.edu	37	6	29760646	29760646	+	RNA	SNP	C	C	A			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr6:29760646C>A	ENST00000457107.1	+	0	353									major histocompatibility complex, class I, V (pseudogene)																		GTTTCATTTTCAGCCAAAATC	0.687																																																	0																																												352962			M96332		6p21.3	2012-10-05	2007-12-12	2007-12-12	ENSG00000181126	ENSG00000181126		"""Histocompatibility complex"""	23482	pseudogene	pseudogene			"""HLA-75 pseudogene"""	HLA-75			Standard	NG_002729		Approved	dJ377H14.4			OTTHUMG00000031277		6.37:g.29760646C>A				RNA	SNP	-	NULL	ENST00000457107.1	37	NULL		6																																																																																			HLA-V	-	-		0.687	HLA-V-003	KNOWN	basic	processed_transcript	HLA-V	HGNC	pseudogene	OTTHUMT00000105231.1	C	NG_002729		29760646	+1	no_errors	ENST00000446817	ensembl	human	known	70_37	rna	SNP	0.006	A
HLA-DRB5	3127	genome.wustl.edu	37	6	32487256	32487256	+	Silent	SNP	G	G	A	rs112401921	byFrequency	TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr6:32487256G>A	ENST00000374975.3	-	3	605	c.543C>T	c.(541-543)gaC>gaT	p.D181D		NM_002125.3	NP_002116.2			major histocompatibility complex, class II, DR beta 5											NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|stomach(2)	10						GGAAGGTCCAGTCTCCATTCT	0.552													G|||	303	0.0605032	0.0567	0.1037	5008	,	,		14760	0.0139		0.1243	False		,,,				2504	0.0174																0								G		179,3689		11,157,1766	61.0	68.0	65.0		543	2.8	1.0	6	dbSNP_132	65	469,7265		25,419,3423	no	coding-synonymous	HLA-DRB5	NM_002125.3		36,576,5189	AA,AG,GG		6.0641,4.6277,5.5852		181/267	32487256	648,10954	1934	3867	5801	SO:0001819	synonymous_variant	3127				CCDS4751.1	6p21.3	2013-01-11			ENSG00000198502	ENSG00000198502		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4953	protein-coding gene	gene with protein product		604776					Standard	NM_002125		Approved		uc003obj.3	Q30154	OTTHUMG00000031027	ENST00000374975.3:c.543C>T	6.37:g.32487256G>A				Silent	SNP	pfam_MHC_II_b_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like	p.D181	ENST00000374975.3	37	c.543	CCDS4751.1	6																																																																																			HLA-DRB5	-	pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like		0.552	HLA-DRB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-DRB5	HGNC	protein_coding	OTTHUMT00000076022.2	G	NM_002125		32487256	-1	no_errors	ENST00000374975	ensembl	human	known	70_37	silent	SNP	1.000	A
HMCN2	256158	genome.wustl.edu	37	9	133282080	133282080	+	3'UTR	SNP	C	C	A			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr9:133282080C>A	ENST00000277491.7	+	0	1661				HMCN2_ENST00000487727.2_Intron																							GTGGAATACCCGTGCTCACCT	0.507																																																	0																																										SO:0001624	3_prime_UTR_variant	256158																														ENST00000277491.7:c.*439C>A	9.37:g.133282080C>A				RNA	SNP	-	NULL	ENST00000277491.7	37	NULL		9																																																																																			HMCN2	-	-		0.507	AL354898.1-201	NOVEL	basic|appris_principal	protein_coding	HMCN2	HGNC	protein_coding		C			133282080	+1	no_errors	ENST00000480829	ensembl	human	known	70_37	rna	SNP	0.000	A
HOXA7	3204	genome.wustl.edu	37	7	27190721	27190721	+	IGR	SNP	G	G	A			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr7:27190721G>A	ENST00000242159.3	-	0	2020				HOXA-AS3_ENST00000524304.1_RNA|HOXA-AS3_ENST00000518848.1_RNA|HOXA-AS3_ENST00000521197.1_RNA|HOXA6_ENST00000521478.1_5'Flank|RP1-170O19.23_ENST00000498652.1_RNA|RP1-170O19.22_ENST00000467897.2_RNA|HOXA-AS3_ENST00000518947.2_RNA|HOXA-AS3_ENST00000521231.1_RNA	NM_006896.3	NP_008827.2	P31268	HXA7_HUMAN	homeobox A7						angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|urinary_tract(1)	16						CGCAGAGCACGGGCTAACGTC	0.527											OREG0017913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001628	intergenic_variant	100133311				CCDS5408.1	7p15.2	2011-06-20	2005-12-22		ENSG00000122592	ENSG00000122592		"""Homeoboxes / ANTP class : HOXL subclass"""	5108	protein-coding gene	gene with protein product		142950	"""homeo box A7"""	HOX1A, HOX1		1973146, 1358459	Standard	NM_006896		Approved		uc003sys.3	P31268	OTTHUMG00000023217		7.37:g.27190721G>A		792	A4D191|O43368|O43486|O95655|Q9NSC8|Q9UDM1	RNA	SNP	-	NULL	ENST00000242159.3	37	NULL	CCDS5408.1	7																																																																																			HOXA-AS3	-	-		0.527	HOXA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXA-AS3	HGNC	protein_coding	OTTHUMT00000358695.1	G			27190721	+1	no_errors	ENST00000524304	ensembl	human	known	70_37	rna	SNP	0.000	A
HOXD3	3232	genome.wustl.edu	37	2	177017631	177017631	+	De_novo_Start_OutOfFrame	SNP	G	G	A			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr2:177017631G>A	ENST00000468418.3	+	0	1872				HOXD4_ENST00000306324.3_Silent_p.P243P|MIR10B_ENST00000385011.1_RNA			P31249	HXD3_HUMAN	homeobox D3						anterior/posterior pattern specification (GO:0009952)|cartilage development (GO:0051216)|cell-matrix adhesion (GO:0007160)|embryonic skeletal system morphogenesis (GO:0048704)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron differentiation (GO:0045666)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		ATTTACAGCCGATGGCCAAAG	0.582																																																	0													74.0	83.0	80.0					2																	177017631		2203	4300	6503			3233				CCDS2270.1	2q31.1	2011-06-20	2005-12-22		ENSG00000128652	ENSG00000128652		"""Homeoboxes / ANTP class : HOXL subclass"""	5137	protein-coding gene	gene with protein product		142980	"""homeo box D3"""	HOX4A, HOX4, HOX1D		1973146, 1358459	Standard	NM_006898		Approved		uc002ukt.1	P31249	OTTHUMG00000132517	ENST00000468418.3:c.-219G>A	2.37:g.177017631G>A			Q99955|Q9BSC5	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,prints_Homeobox_metazoa,prints_Homeobox_antennapedia,pfscan_Homeodomain	p.P243	ENST00000468418.3	37	c.729	CCDS2270.1	2																																																																																			HOXD4	-	NULL		0.582	HOXD3-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	HOXD4	HGNC	protein_coding	OTTHUMT00000334246.4	G			177017631	+1	no_errors	ENST00000306324	ensembl	human	known	70_37	silent	SNP	0.269	A
HOXD3	3232	genome.wustl.edu	37	2	177017631	177017631	+	De_novo_Start_OutOfFrame	SNP	G	G	A			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr2:177017631G>A	ENST00000468418.3	+	0	1872				HOXD4_ENST00000306324.3_Silent_p.P243P|MIR10B_ENST00000385011.1_RNA			P31249	HXD3_HUMAN	homeobox D3						anterior/posterior pattern specification (GO:0009952)|cartilage development (GO:0051216)|cell-matrix adhesion (GO:0007160)|embryonic skeletal system morphogenesis (GO:0048704)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron differentiation (GO:0045666)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		ATTTACAGCCGATGGCCAAAG	0.582																																																	0													74.0	83.0	80.0					2																	177017631		2203	4300	6503			3233				CCDS2270.1	2q31.1	2011-06-20	2005-12-22		ENSG00000128652	ENSG00000128652		"""Homeoboxes / ANTP class : HOXL subclass"""	5137	protein-coding gene	gene with protein product		142980	"""homeo box D3"""	HOX4A, HOX4, HOX1D		1973146, 1358459	Standard	NM_006898		Approved		uc002ukt.1	P31249	OTTHUMG00000132517	ENST00000468418.3:c.-219G>A	2.37:g.177017631G>A			Q99955|Q9BSC5	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,prints_Homeobox_metazoa,prints_Homeobox_antennapedia,pfscan_Homeodomain	p.P243	ENST00000468418.3	37	c.729	CCDS2270.1	2																																																																																			HOXD4	-	NULL		0.582	HOXD3-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	HOXD4	HGNC	protein_coding	OTTHUMT00000334246.4	G			177017631	+1	no_errors	ENST00000306324	ensembl	human	known	70_37	silent	SNP	0.269	A
HPGD	3248	genome.wustl.edu	37	4	175414330	175414330	+	Missense_Mutation	SNP	C	C	A	rs148874494	byFrequency	TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr4:175414330C>A	ENST00000296522.6	-	6	1080	c.634G>T	c.(634-636)Gat>Tat	p.D212Y	HPGD_ENST00000296521.7_Intron|HPGD_ENST00000510901.1_Missense_Mutation_p.D91Y|HPGD_ENST00000542498.1_Intron|HPGD_ENST00000541923.1_Missense_Mutation_p.D91Y|HPGD_ENST00000422112.2_Missense_Mutation_p.D144Y	NM_000860.5|NM_001145816.2|NM_001256301.1|NM_001256307.1	NP_000851.2|NP_001139288.1|NP_001243230.1|NP_001243236.1	P15428	PGDH_HUMAN	hydroxyprostaglandin dehydrogenase 15-(NAD)	212					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|ductus arteriosus closure (GO:0097070)|female pregnancy (GO:0007565)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|negative regulation of cell cycle (GO:0045786)|ovulation (GO:0030728)|parturition (GO:0007567)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|thrombin receptor signaling pathway (GO:0070493)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|catalytic activity (GO:0003824)|NAD binding (GO:0051287)|NAD+ binding (GO:0070403)|prostaglandin E receptor activity (GO:0004957)|protein homodimerization activity (GO:0042803)			kidney(1)|lung(3)|prostate(3)	7		Prostate(90;0.00763)|Melanoma(52;0.0179)|Renal(120;0.0376)|Breast(14;0.0991)|all_hematologic(60;0.124)|all_neural(102;0.196)		all cancers(43;2.6e-18)|Epithelial(43;4.19e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.23e-09)|GBM - Glioblastoma multiforme(59;0.00176)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.0253)		TTAATCATATCCTTGATATGA	0.294																																																	0													70.0	68.0	69.0					4																	175414330		2203	4299	6502	SO:0001583	missense	3248				CCDS3821.1, CCDS54821.1, CCDS58933.1, CCDS58934.1, CCDS58935.1	4q34-q35	2011-09-14			ENSG00000164120	ENSG00000164120	1.1.1.141	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	5154	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 36C, member 1"""	601688				19027726	Standard	NM_000860		Approved	SDR36C1	uc003itu.3	P15428	OTTHUMG00000160772	ENST00000296522.6:c.634G>T	4.37:g.175414330C>A	ENSP00000296522:p.Asp212Tyr		B4DTA4|B4DU74|B4DV57|D3DP43|E7EV11|O00749|Q06F08|Q12998	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH,prints_ADH_insect,prints_DH_sc/Rdtase_SDR,prints_DHB_DH	p.D212Y	ENST00000296522.6	37	c.634	CCDS3821.1	4	.	.	.	.	.	.	.	.	.	.	C	13.53	2.264272	0.39995	.	.	ENSG00000164120	ENST00000296522;ENST00000510901;ENST00000422112;ENST00000541923;ENST00000506910;ENST00000514584	T;T;T;T;T;T	0.81247	-1.47;-1.47;-1.47;-1.47;-1.47;-1.47	5.73	4.86	0.63082	NAD(P)-binding domain (1);	0.691431	0.15430	N	0.262794	T	0.78742	0.4331	M	0.75884	2.315	0.80722	D	1	P;B;B	0.34837	0.472;0.036;0.108	B;B;B	0.30943	0.122;0.055;0.055	T	0.77988	-0.2380	10	0.56958	D	0.05	.	11.1903	0.48681	0.0:0.8424:0.0:0.1576	.	144;212;91	E7EV11;P15428;B4DU74	.;PGDH_HUMAN;.	Y	212;91;144;91;91;91	ENSP00000296522:D212Y;ENSP00000422418:D91Y;ENSP00000398720:D144Y;ENSP00000438017:D91Y;ENSP00000423066:D91Y;ENSP00000423110:D91Y	ENSP00000296522:D212Y	D	-	1	0	HPGD	175650905	0.991000	0.36638	0.990000	0.47175	0.895000	0.52256	1.619000	0.36965	1.354000	0.45846	0.655000	0.94253	GAT	HPGD	-	NULL		0.294	HPGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HPGD	HGNC	protein_coding	OTTHUMT00000362228.3	C			175414330	-1	no_errors	ENST00000296522	ensembl	human	known	70_37	missense	SNP	1.000	A
HPGD	3248	genome.wustl.edu	37	4	175414436	175414436	+	Silent	SNP	C	C	T			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr4:175414436C>T	ENST00000296522.6	-	6	974	c.528G>A	c.(526-528)gtG>gtA	p.V176V	HPGD_ENST00000296521.7_Intron|HPGD_ENST00000510901.1_Silent_p.V55V|HPGD_ENST00000542498.1_Intron|HPGD_ENST00000541923.1_Silent_p.V55V|HPGD_ENST00000422112.2_Silent_p.V108V	NM_000860.5|NM_001145816.2|NM_001256301.1|NM_001256307.1	NP_000851.2|NP_001139288.1|NP_001243230.1|NP_001243236.1	P15428	PGDH_HUMAN	hydroxyprostaglandin dehydrogenase 15-(NAD)	176					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|ductus arteriosus closure (GO:0097070)|female pregnancy (GO:0007565)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|negative regulation of cell cycle (GO:0045786)|ovulation (GO:0030728)|parturition (GO:0007567)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|thrombin receptor signaling pathway (GO:0070493)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|catalytic activity (GO:0003824)|NAD binding (GO:0051287)|NAD+ binding (GO:0070403)|prostaglandin E receptor activity (GO:0004957)|protein homodimerization activity (GO:0042803)			kidney(1)|lung(3)|prostate(3)	7		Prostate(90;0.00763)|Melanoma(52;0.0179)|Renal(120;0.0376)|Breast(14;0.0991)|all_hematologic(60;0.124)|all_neural(102;0.196)		all cancers(43;2.6e-18)|Epithelial(43;4.19e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.23e-09)|GBM - Glioblastoma multiforme(59;0.00176)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.0253)		CATTCAGTCTCACACCACTGT	0.363																																																	0													104.0	99.0	101.0					4																	175414436		2203	4299	6502	SO:0001819	synonymous_variant	3248				CCDS3821.1, CCDS54821.1, CCDS58933.1, CCDS58934.1, CCDS58935.1	4q34-q35	2011-09-14			ENSG00000164120	ENSG00000164120	1.1.1.141	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	5154	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 36C, member 1"""	601688				19027726	Standard	NM_000860		Approved	SDR36C1	uc003itu.3	P15428	OTTHUMG00000160772	ENST00000296522.6:c.528G>A	4.37:g.175414436C>T			B4DTA4|B4DU74|B4DV57|D3DP43|E7EV11|O00749|Q06F08|Q12998	Silent	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH,prints_ADH_insect,prints_DH_sc/Rdtase_SDR,prints_DHB_DH	p.V176	ENST00000296522.6	37	c.528	CCDS3821.1	4																																																																																			HPGD	-	prints_Glc/ribitol_DH,prints_ADH_insect,prints_DHB_DH		0.363	HPGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HPGD	HGNC	protein_coding	OTTHUMT00000362228.3	C			175414436	-1	no_errors	ENST00000296522	ensembl	human	known	70_37	silent	SNP	0.997	T
HPGD	3248	genome.wustl.edu	37	4	175414436	175414436	+	Silent	SNP	C	C	T			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr4:175414436C>T	ENST00000296522.6	-	6	974	c.528G>A	c.(526-528)gtG>gtA	p.V176V	HPGD_ENST00000296521.7_Intron|HPGD_ENST00000510901.1_Silent_p.V55V|HPGD_ENST00000542498.1_Intron|HPGD_ENST00000541923.1_Silent_p.V55V|HPGD_ENST00000422112.2_Silent_p.V108V	NM_000860.5|NM_001145816.2|NM_001256301.1|NM_001256307.1	NP_000851.2|NP_001139288.1|NP_001243230.1|NP_001243236.1	P15428	PGDH_HUMAN	hydroxyprostaglandin dehydrogenase 15-(NAD)	176					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|ductus arteriosus closure (GO:0097070)|female pregnancy (GO:0007565)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|negative regulation of cell cycle (GO:0045786)|ovulation (GO:0030728)|parturition (GO:0007567)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|thrombin receptor signaling pathway (GO:0070493)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|catalytic activity (GO:0003824)|NAD binding (GO:0051287)|NAD+ binding (GO:0070403)|prostaglandin E receptor activity (GO:0004957)|protein homodimerization activity (GO:0042803)			kidney(1)|lung(3)|prostate(3)	7		Prostate(90;0.00763)|Melanoma(52;0.0179)|Renal(120;0.0376)|Breast(14;0.0991)|all_hematologic(60;0.124)|all_neural(102;0.196)		all cancers(43;2.6e-18)|Epithelial(43;4.19e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.23e-09)|GBM - Glioblastoma multiforme(59;0.00176)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.0253)		CATTCAGTCTCACACCACTGT	0.363																																																	0													104.0	99.0	101.0					4																	175414436		2203	4299	6502	SO:0001819	synonymous_variant	3248				CCDS3821.1, CCDS54821.1, CCDS58933.1, CCDS58934.1, CCDS58935.1	4q34-q35	2011-09-14			ENSG00000164120	ENSG00000164120	1.1.1.141	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	5154	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 36C, member 1"""	601688				19027726	Standard	NM_000860		Approved	SDR36C1	uc003itu.3	P15428	OTTHUMG00000160772	ENST00000296522.6:c.528G>A	4.37:g.175414436C>T			B4DTA4|B4DU74|B4DV57|D3DP43|E7EV11|O00749|Q06F08|Q12998	Silent	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH,prints_ADH_insect,prints_DH_sc/Rdtase_SDR,prints_DHB_DH	p.V176	ENST00000296522.6	37	c.528	CCDS3821.1	4																																																																																			HPGD	-	prints_Glc/ribitol_DH,prints_ADH_insect,prints_DHB_DH		0.363	HPGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HPGD	HGNC	protein_coding	OTTHUMT00000362228.3	C			175414436	-1	no_errors	ENST00000296522	ensembl	human	known	70_37	silent	SNP	0.997	T
HSD17B4	3295	genome.wustl.edu	37	5	118844859	118844859	+	Missense_Mutation	SNP	C	C	T	rs372898042		TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr5:118844859C>T	ENST00000256216.6	+	16	1490	c.1357C>T	c.(1357-1359)Ctt>Ttt	p.L453F	HSD17B4_ENST00000513628.1_Missense_Mutation_p.L316F|HSD17B4_ENST00000522415.1_3'UTR|HSD17B4_ENST00000509514.1_Missense_Mutation_p.L191F|HSD17B4_ENST00000414835.2_Missense_Mutation_p.L313F|HSD17B4_ENST00000504811.1_Missense_Mutation_p.L478F|HSD17B4_ENST00000515320.1_Missense_Mutation_p.L435F|HSD17B4_ENST00000510025.1_Missense_Mutation_p.L429F	NM_000414.3	NP_000405.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	453	Enoyl-CoA hydratase 2.				alpha-linolenic acid metabolic process (GO:0036109)|androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|estrogen metabolic process (GO:0008210)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|metabolic process (GO:0008152)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)|very long-chain fatty-acyl-CoA metabolic process (GO:0036111)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	17-beta-hydroxysteroid dehydrogenase (NAD+) activity (GO:0044594)|3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity (GO:0033989)|isomerase activity (GO:0016853)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)		TGAGAAGGAACTTATATGCCA	0.363																																					Colon(35;490 801 34689 41394 43344)												0								C	PHE/LEU,PHE/LEU,PHE/LEU	1,4403	2.1+/-5.4	0,1,2201	137.0	138.0	138.0		1357,1432,1303	4.6	0.9	5		138	3,8597	3.0+/-9.4	0,3,4297	no	missense,missense,missense	HSD17B4	NM_000414.3,NM_001199291.1,NM_001199292.1	22,22,22	0,4,6498	TT,TC,CC		0.0349,0.0227,0.0308	possibly-damaging,possibly-damaging,possibly-damaging	453/737,478/762,435/719	118844859	4,13000	2202	4300	6502	SO:0001583	missense	3295				CCDS4126.1, CCDS56378.1, CCDS56379.1	5q2	2011-09-20			ENSG00000133835	ENSG00000133835	4.2.1.107, 1.1.1.35	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	5213	protein-coding gene	gene with protein product	"""17beta-estradiol dehydrogenase type IV"", ""peroxisomal multifunctional protein 2"", ""17-beta-HSD IV"", ""17-beta-hydroxysteroid dehydrogenase 4"", ""D-bifunctional protein, peroxisomal"", ""D-3-hydroxyacyl-CoA dehydratase"", ""3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase"", ""beta-keto-reductase"", ""beta-hydroxyacyl dehydrogenase"", ""short chain dehydrogenase/reductase family 8C, member 1"""	601860				8938456, 19027726	Standard	NM_000414		Approved	MFE-2, DBP, SDR8C1	uc003ksj.3	P51659	OTTHUMG00000128899	ENST00000256216.6:c.1357C>T	5.37:g.118844859C>T	ENSP00000256216:p.Leu453Phe		B4DNV1|B4DVS5|E9PB82|F5HE57	Missense_Mutation	SNP	pfam_MaoC_deHydtase,pfam_DH_sc/Rdtase_SDR,pfam_SCP2_sterol-bd_dom,pfam_PKS_KR,superfamily_SCP2_sterol-bd_dom,smart_PKS/FAS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH	p.L453F	ENST00000256216.6	37	c.1357	CCDS4126.1	5	.	.	.	.	.	.	.	.	.	.	C	13.31	2.199175	0.38806	2.27E-4	3.49E-4	ENSG00000133835	ENST00000256216;ENST00000515320;ENST00000510025;ENST00000504811;ENST00000414835;ENST00000513628;ENST00000509514	D;D;D;D;D;D;D	0.86097	-2.07;-2.07;-2.07;-2.07;-2.07;-2.07;-2.07	5.53	4.64	0.57946	.	0.125064	0.56097	D	0.000032	D	0.93530	0.7935	M	0.91663	3.23	0.54753	D	0.999982	D;D;D;B;D	0.76494	0.999;0.994;0.994;0.369;0.996	D;D;D;B;D	0.71184	0.966;0.972;0.961;0.205;0.965	D	0.94493	0.7703	10	0.56958	D	0.05	-22.8541	15.7957	0.78409	0.0:0.8632:0.1368:0.0	.	478;435;429;191;453	F5HE57;E9PB82;E7EWE5;E7EPL9;P51659	.;.;.;.;DHB4_HUMAN	F	453;435;429;478;313;316;191	ENSP00000256216:L453F;ENSP00000424613:L435F;ENSP00000424940:L429F;ENSP00000420914:L478F;ENSP00000411960:L313F;ENSP00000425993:L316F;ENSP00000426272:L191F	ENSP00000256216:L453F	L	+	1	0	HSD17B4	118872758	1.000000	0.71417	0.865000	0.33974	0.616000	0.37450	6.554000	0.73923	1.278000	0.44430	0.561000	0.74099	CTT	HSD17B4	-	NULL		0.363	HSD17B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD17B4	HGNC	protein_coding	OTTHUMT00000250863.3	C	NM_000414		118844859	+1	no_errors	ENST00000256216	ensembl	human	known	70_37	missense	SNP	0.996	T
HSD17B4	3295	genome.wustl.edu	37	5	118844859	118844859	+	Missense_Mutation	SNP	C	C	T	rs372898042		TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr5:118844859C>T	ENST00000256216.6	+	16	1490	c.1357C>T	c.(1357-1359)Ctt>Ttt	p.L453F	HSD17B4_ENST00000513628.1_Missense_Mutation_p.L316F|HSD17B4_ENST00000522415.1_3'UTR|HSD17B4_ENST00000509514.1_Missense_Mutation_p.L191F|HSD17B4_ENST00000414835.2_Missense_Mutation_p.L313F|HSD17B4_ENST00000504811.1_Missense_Mutation_p.L478F|HSD17B4_ENST00000515320.1_Missense_Mutation_p.L435F|HSD17B4_ENST00000510025.1_Missense_Mutation_p.L429F	NM_000414.3	NP_000405.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	453	Enoyl-CoA hydratase 2.				alpha-linolenic acid metabolic process (GO:0036109)|androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|estrogen metabolic process (GO:0008210)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|metabolic process (GO:0008152)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)|very long-chain fatty-acyl-CoA metabolic process (GO:0036111)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	17-beta-hydroxysteroid dehydrogenase (NAD+) activity (GO:0044594)|3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity (GO:0033989)|isomerase activity (GO:0016853)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)		TGAGAAGGAACTTATATGCCA	0.363																																					Colon(35;490 801 34689 41394 43344)												0								C	PHE/LEU,PHE/LEU,PHE/LEU	1,4403	2.1+/-5.4	0,1,2201	137.0	138.0	138.0		1357,1432,1303	4.6	0.9	5		138	3,8597	3.0+/-9.4	0,3,4297	no	missense,missense,missense	HSD17B4	NM_000414.3,NM_001199291.1,NM_001199292.1	22,22,22	0,4,6498	TT,TC,CC		0.0349,0.0227,0.0308	possibly-damaging,possibly-damaging,possibly-damaging	453/737,478/762,435/719	118844859	4,13000	2202	4300	6502	SO:0001583	missense	3295				CCDS4126.1, CCDS56378.1, CCDS56379.1	5q2	2011-09-20			ENSG00000133835	ENSG00000133835	4.2.1.107, 1.1.1.35	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	5213	protein-coding gene	gene with protein product	"""17beta-estradiol dehydrogenase type IV"", ""peroxisomal multifunctional protein 2"", ""17-beta-HSD IV"", ""17-beta-hydroxysteroid dehydrogenase 4"", ""D-bifunctional protein, peroxisomal"", ""D-3-hydroxyacyl-CoA dehydratase"", ""3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase"", ""beta-keto-reductase"", ""beta-hydroxyacyl dehydrogenase"", ""short chain dehydrogenase/reductase family 8C, member 1"""	601860				8938456, 19027726	Standard	NM_000414		Approved	MFE-2, DBP, SDR8C1	uc003ksj.3	P51659	OTTHUMG00000128899	ENST00000256216.6:c.1357C>T	5.37:g.118844859C>T	ENSP00000256216:p.Leu453Phe		B4DNV1|B4DVS5|E9PB82|F5HE57	Missense_Mutation	SNP	pfam_MaoC_deHydtase,pfam_DH_sc/Rdtase_SDR,pfam_SCP2_sterol-bd_dom,pfam_PKS_KR,superfamily_SCP2_sterol-bd_dom,smart_PKS/FAS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH	p.L453F	ENST00000256216.6	37	c.1357	CCDS4126.1	5	.	.	.	.	.	.	.	.	.	.	C	13.31	2.199175	0.38806	2.27E-4	3.49E-4	ENSG00000133835	ENST00000256216;ENST00000515320;ENST00000510025;ENST00000504811;ENST00000414835;ENST00000513628;ENST00000509514	D;D;D;D;D;D;D	0.86097	-2.07;-2.07;-2.07;-2.07;-2.07;-2.07;-2.07	5.53	4.64	0.57946	.	0.125064	0.56097	D	0.000032	D	0.93530	0.7935	M	0.91663	3.23	0.54753	D	0.999982	D;D;D;B;D	0.76494	0.999;0.994;0.994;0.369;0.996	D;D;D;B;D	0.71184	0.966;0.972;0.961;0.205;0.965	D	0.94493	0.7703	10	0.56958	D	0.05	-22.8541	15.7957	0.78409	0.0:0.8632:0.1368:0.0	.	478;435;429;191;453	F5HE57;E9PB82;E7EWE5;E7EPL9;P51659	.;.;.;.;DHB4_HUMAN	F	453;435;429;478;313;316;191	ENSP00000256216:L453F;ENSP00000424613:L435F;ENSP00000424940:L429F;ENSP00000420914:L478F;ENSP00000411960:L313F;ENSP00000425993:L316F;ENSP00000426272:L191F	ENSP00000256216:L453F	L	+	1	0	HSD17B4	118872758	1.000000	0.71417	0.865000	0.33974	0.616000	0.37450	6.554000	0.73923	1.278000	0.44430	0.561000	0.74099	CTT	HSD17B4	-	NULL		0.363	HSD17B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD17B4	HGNC	protein_coding	OTTHUMT00000250863.3	C	NM_000414		118844859	+1	no_errors	ENST00000256216	ensembl	human	known	70_37	missense	SNP	0.996	T
HSPA14	51182	genome.wustl.edu	37	10	14886054	14886054	+	Intron	SNP	G	G	T			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr10:14886054G>T	ENST00000378372.3	+	3	460				HSPA14_ENST00000437161.2_3'UTR	NM_016299.2	NP_057383.2	Q0VDF9	HSP7E_HUMAN	heat shock 70kDa protein 14						'de novo' cotranslational protein folding (GO:0051083)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)			breast(4)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	17						ATTTTCCCAAGATTCTCCACC	0.408																																																	0																																										SO:0001627	intron_variant	51182			AF112210	CCDS7103.1, CCDS60487.1	10p13	2011-09-02			ENSG00000187522	ENSG00000187522		"""Heat shock proteins / HSP70"""	29526	protein-coding gene	gene with protein product		610369				12477932	Standard	NM_016299		Approved	HSP70-4, HSP70L1	uc001ind.4	Q0VDF9	OTTHUMG00000017712	ENST00000378372.3:c.221+3898G>T	10.37:g.14886054G>T			A8K8F8|B0YIY9|Q9P0X2|Q9UI07	RNA	SNP	-	NULL	ENST00000378372.3	37	NULL	CCDS7103.1	10																																																																																			HSPA14	-	-		0.408	HSPA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA14	HGNC	protein_coding	OTTHUMT00000046910.1	G	NM_016299		14886054	+1	no_errors	ENST00000494337	ensembl	human	known	70_37	rna	SNP	0.000	T
IFNAR1	3454	genome.wustl.edu	37	21	34727805	34727805	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr21:34727805G>A	ENST00000270139.3	+	11	1776	c.1624G>A	c.(1624-1626)Gat>Aat	p.D542N	IFNAR1_ENST00000442357.2_Missense_Mutation_p.D481N|IFNAR1_ENST00000416947.2_Missense_Mutation_p.D473N	NM_000629.2	NP_000620.2	P17181	INAR1_HUMAN	interferon (alpha, beta and omega) receptor 1	542					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to virus (GO:0009615)|T cell activation (GO:0042110)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	type I interferon receptor activity (GO:0004905)			breast(2)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|skin(2)	14					"""""""Interferon Alfa-2a(DB00034)|""""Interferon Alfa-2b(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)|Natural alpha interferon(DB05258)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)"""	TTCTAATGAAGATGAAAGCGA	0.348																																					Esophageal Squamous(73;817 1211 32990 35667 42746)												0													92.0	99.0	97.0					21																	34727805		2203	4300	6503	SO:0001583	missense	3454				CCDS13624.1	21q22.1	2008-05-02			ENSG00000142166	ENSG00000142166		"""Interferons"""	5432	protein-coding gene	gene with protein product		107450		IFNAR		8181059	Standard	NM_000629		Approved	IFRC	uc002yrn.3	P17181	OTTHUMG00000065126	ENST00000270139.3:c.1624G>A	21.37:g.34727805G>A	ENSP00000270139:p.Asp542Asn		B2R6L9|B4DNT3|D3DSF0|Q53GW9|Q53H11|Q6PKD7|Q7M4L2|Q8WTZ2	Missense_Mutation	SNP	pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,pirsf_Interferon_alpha/beta_rcpt-1	p.D542N	ENST00000270139.3	37	c.1624	CCDS13624.1	21	.	.	.	.	.	.	.	.	.	.	G	24.9	4.583033	0.86748	.	.	ENSG00000142166	ENST00000416947;ENST00000270139;ENST00000442357	T;T;T	0.52754	0.65;0.78;1.58	5.67	4.78	0.61160	.	0.500991	0.19984	N	0.101708	T	0.63367	0.2505	M	0.76574	2.34	0.34216	D	0.674864	D	0.76494	0.999	D	0.64144	0.922	T	0.73764	-0.3880	10	0.66056	D	0.02	-26.6341	9.5597	0.39362	0.0929:0.0:0.9071:0.0	.	542	P17181	INAR1_HUMAN	N	473;542;481	ENSP00000395606:D473N;ENSP00000270139:D542N;ENSP00000407406:D481N	ENSP00000270139:D542N	D	+	1	0	IFNAR1	33649675	0.993000	0.37304	0.995000	0.50966	0.901000	0.52897	2.197000	0.42696	2.666000	0.90696	0.655000	0.94253	GAT	IFNAR1	-	pirsf_Interferon_alpha/beta_rcpt-1		0.348	IFNAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFNAR1	HGNC	protein_coding	OTTHUMT00000139823.4	G			34727805	+1	no_errors	ENST00000270139	ensembl	human	known	70_37	missense	SNP	0.985	A
IGBP1	3476	genome.wustl.edu	37	X	69353869	69353869	+	Silent	SNP	C	C	T			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chrX:69353869C>T	ENST00000342206.6	+	1	571	c.72C>T	c.(70-72)gaC>gaT	p.D24D	IGBP1_ENST00000356413.4_Silent_p.D24D			P78318	IGBP1_HUMAN	immunoglobulin (CD79A) binding protein 1	24					B cell activation (GO:0042113)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of protein dephosphorylation (GO:0035308)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dephosphorylation (GO:0035306)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of microtubule-based movement (GO:0060632)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	protein phosphatase type 2A regulator activity (GO:0008601)			kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(2)	11						AGTTACTGGACGAAGTAGAAG	0.572											OREG0019849	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									NSCLC(167;1189 1558 6576 8216 30387 37980 41450)												0													41.0	35.0	37.0					X																	69353869		2203	4300	6503	SO:0001819	synonymous_variant	3476			Y08915	CCDS14396.1	Xq13.1-q13.3	2008-02-05			ENSG00000089289	ENSG00000089289			5461	protein-coding gene	gene with protein product	"""alpha 4"""	300139		IBP1		9441740	Standard	NM_001551		Approved		uc004dxw.3	P78318	OTTHUMG00000021767	ENST00000342206.6:c.72C>T	X.37:g.69353869C>T		1114	Q8TAB2	Silent	SNP	pfam_TAP42-like	p.D24	ENST00000342206.6	37	c.72	CCDS14396.1	X																																																																																			IGBP1	-	pfam_TAP42-like		0.572	IGBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGBP1	HGNC	protein_coding	OTTHUMT00000057052.1	C			69353869	+1	no_errors	ENST00000342206	ensembl	human	known	70_37	silent	SNP	0.085	T
IGBP1	3476	genome.wustl.edu	37	X	69353869	69353869	+	Silent	SNP	C	C	T			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chrX:69353869C>T	ENST00000342206.6	+	1	571	c.72C>T	c.(70-72)gaC>gaT	p.D24D	IGBP1_ENST00000356413.4_Silent_p.D24D			P78318	IGBP1_HUMAN	immunoglobulin (CD79A) binding protein 1	24					B cell activation (GO:0042113)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of protein dephosphorylation (GO:0035308)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dephosphorylation (GO:0035306)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of microtubule-based movement (GO:0060632)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	protein phosphatase type 2A regulator activity (GO:0008601)			kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(2)	11						AGTTACTGGACGAAGTAGAAG	0.572											OREG0019849	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									NSCLC(167;1189 1558 6576 8216 30387 37980 41450)												0													41.0	35.0	37.0					X																	69353869		2203	4300	6503	SO:0001819	synonymous_variant	3476			Y08915	CCDS14396.1	Xq13.1-q13.3	2008-02-05			ENSG00000089289	ENSG00000089289			5461	protein-coding gene	gene with protein product	"""alpha 4"""	300139		IBP1		9441740	Standard	NM_001551		Approved		uc004dxw.3	P78318	OTTHUMG00000021767	ENST00000342206.6:c.72C>T	X.37:g.69353869C>T		1114	Q8TAB2	Silent	SNP	pfam_TAP42-like	p.D24	ENST00000342206.6	37	c.72	CCDS14396.1	X																																																																																			IGBP1	-	pfam_TAP42-like		0.572	IGBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGBP1	HGNC	protein_coding	OTTHUMT00000057052.1	C			69353869	+1	no_errors	ENST00000342206	ensembl	human	known	70_37	silent	SNP	0.085	T
IGFN1	91156	genome.wustl.edu	37	1	201176007	201176007	+	Silent	SNP	A	A	G			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr1:201176007A>G	ENST00000335211.4	+	12	2116	c.1986A>G	c.(1984-1986)ggA>ggG	p.G662G	IGFN1_ENST00000451870.2_Intron|IGFN1_ENST00000295591.8_5'UTR	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	0	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.					nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CTGGCCTGGGAGAAGCTGGAG	0.597																																																	0													75.0	82.0	80.0					1																	201176007		692	1591	2283	SO:0001819	synonymous_variant	91156			AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.1986A>G	1.37:g.201176007A>G			F8WAI1|Q9NT72	Silent	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	p.G662	ENST00000335211.4	37	c.1986	CCDS53455.1	1																																																																																			IGFN1	-	NULL		0.597	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	IGFN1	HGNC	protein_coding		A	NM_178275		201176007	+1	no_errors	ENST00000335211	ensembl	human	known	70_37	silent	SNP	0.000	G
INCENP	3619	genome.wustl.edu	37	11	61895726	61895726	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr11:61895726G>T	ENST00000394818.3	+	2	295	c.93G>T	c.(91-93)ttG>ttT	p.L31F	INCENP_ENST00000278849.4_Missense_Mutation_p.L31F	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	31					chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	central element (GO:0000801)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lateral element (GO:0000800)|microtubule (GO:0005874)|midbody (GO:0030496)|pericentric heterochromatin (GO:0005721)|protein complex (GO:0043234)|spindle (GO:0005819)				breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						ATAAGGACTTGGTGTGGCTTG	0.582																																																	0													89.0	83.0	85.0					11																	61895726		2202	4299	6501	SO:0001583	missense	3619			AF282265	CCDS31582.1, CCDS44624.1	11q12.3	2013-01-17	2002-08-29		ENSG00000149503	ENSG00000149503			6058	protein-coding gene	gene with protein product		604411	"""inner centromere protein antigens (135kD, 155kD)"""			1860899, 11453556	Standard	NM_001040694		Approved	FLJ31633	uc001nsw.1	Q9NQS7	OTTHUMG00000167470	ENST00000394818.3:c.93G>T	11.37:g.61895726G>T	ENSP00000378295:p.Leu31Phe		A8MQD2|Q5Y192	Missense_Mutation	SNP	pfam_INCENP_N,pfam_Inner_centromere_prot_ARK-bd	p.L31F	ENST00000394818.3	37	c.93	CCDS44624.1	11	.	.	.	.	.	.	.	.	.	.	G	14.36	2.512239	0.44660	.	.	ENSG00000149503	ENST00000394818;ENST00000533896;ENST00000278849	T;T;T	0.30182	2.13;1.54;2.13	5.71	3.81	0.43845	Chromosome passenger complex (CPC) protein INCENP N-terminal (1);	0.481200	0.17553	N	0.170082	T	0.32645	0.0836	N	0.17082	0.46	0.34093	D	0.660984	D;B;B	0.64830	0.994;0.082;0.1	D;B;B	0.66497	0.944;0.058;0.096	T	0.37549	-0.9701	10	0.32370	T	0.25	.	7.8757	0.29592	0.0874:0.1681:0.7444:0.0	.	31;31;31	B3KPD3;Q9NQS7-2;Q9NQS7	.;.;INCE_HUMAN	F	31	ENSP00000378295:L31F;ENSP00000433100:L31F;ENSP00000278849:L31F	ENSP00000278849:L31F	L	+	3	2	INCENP	61652302	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	1.849000	0.39318	0.748000	0.32831	0.643000	0.83706	TTG	INCENP	-	pfam_INCENP_N		0.582	INCENP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	INCENP	HGNC	protein_coding	OTTHUMT00000394723.2	G	NM_020238		61895726	+1	no_errors	ENST00000394818	ensembl	human	known	70_37	missense	SNP	0.997	T
IGHMBP2	3508	genome.wustl.edu	37	11	68703761	68703761	+	Silent	SNP	C	C	A			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr11:68703761C>A	ENST00000255078.3	+	13	1924	c.1813C>A	c.(1813-1815)Cga>Aga	p.R605R	IGHMBP2_ENST00000541229.1_3'UTR	NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	605					ATP catabolic process (GO:0006200)|cell death (GO:0008219)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|protein homooligomerization (GO:0051260)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)	axon (GO:0030424)|cytoplasm (GO:0005737)|growth cone (GO:0030426)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent 5'-3' RNA helicase activity (GO:0032575)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|RNA-dependent ATPase activity (GO:0008186)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)|tRNA binding (GO:0000049)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CACCCGTGCCCGACGCCACGT	0.537																																																	0			GRCh37	CM034537	IGHMBP2	M							159.0	154.0	156.0					11																	68703761		2200	4294	6494	SO:0001819	synonymous_variant	3508			L14754	CCDS8187.1	11q13.3	2014-09-17			ENSG00000132740	ENSG00000132740		"""Zinc fingers, AN1-type domain containing"""	5542	protein-coding gene	gene with protein product	"""cardiac transcription factor 1"", ""zinc finger, AN1-type domain 7"""	600502				8349627	Standard	NM_002180		Approved	ZFAND7, SMUBP2, CATF1, SMARD1, HCSA, HMN6	uc001ook.1	P38935	OTTHUMG00000167894	ENST00000255078.3:c.1813C>A	11.37:g.68703761C>A			A0PJD2|Q00443|Q14177	Silent	SNP	pfam_R3H_ss-bd,pfam_Znf_AN1,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_R3H_ss-bd,smart_Znf_AN1,pfscan_Znf_AN1,pfscan_R3H_ss-bd,tigrfam_DNA_helicase_put	p.R605	ENST00000255078.3	37	c.1813	CCDS8187.1	11																																																																																			IGHMBP2	-	tigrfam_DNA_helicase_put		0.537	IGHMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGHMBP2	HGNC	protein_coding	OTTHUMT00000396862.1	C	NM_002180		68703761	+1	no_errors	ENST00000255078	ensembl	human	known	70_37	silent	SNP	0.973	A
IRS2	8660	genome.wustl.edu	37	13	110438357	110438357	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr13:110438357C>T	ENST00000375856.3	-	1	558	c.44G>A	c.(43-45)gGa>gAa	p.G15E		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	15					brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular response to glucose stimulus (GO:0071333)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid homeostasis (GO:0055088)|mammary gland development (GO:0030879)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of kinase activity (GO:0033673)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mesenchymal cell proliferation (GO:0002053)|regulation of lipid metabolic process (GO:0019216)|response to glucose (GO:0009749)|signal transduction (GO:0007165)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			GGGGCCGTCTCCGCTcgccgg	0.721																																					Melanoma(100;613 2409 40847)												0													2.0	2.0	2.0					13																	110438357		931	1497	2428	SO:0001583	missense	8660			AB000732	CCDS9510.1	13q34	2013-01-10			ENSG00000185950	ENSG00000185950		"""Pleckstrin homology (PH) domain containing"""	6126	protein-coding gene	gene with protein product		600797				9312143	Standard	NM_003749		Approved		uc001vqv.3	Q9Y4H2	OTTHUMG00000017338	ENST00000375856.3:c.44G>A	13.37:g.110438357C>T	ENSP00000365016:p.Gly15Glu		Q96RR2|Q9BZG0|Q9Y6I5	Missense_Mutation	SNP	pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1	p.G15E	ENST00000375856.3	37	c.44	CCDS9510.1	13	.	.	.	.	.	.	.	.	.	.	c	4.517	0.095877	0.08681	.	.	ENSG00000185950	ENST00000375856	T	0.47869	0.83	2.12	2.12	0.27331	.	0.836696	0.10062	U	0.720833	T	0.28830	0.0715	N	0.19112	0.55	0.09310	N	1	B	0.28760	0.221	B	0.17979	0.02	T	0.15378	-1.0439	10	0.46703	T	0.11	.	6.533	0.22338	0.0:0.6936:0.3064:0.0	.	15	Q9Y4H2	IRS2_HUMAN	E	15	ENSP00000365016:G15E	ENSP00000365016:G15E	G	-	2	0	IRS2	109236358	0.011000	0.17503	0.303000	0.25071	0.203000	0.24098	-0.416000	0.07097	1.051000	0.40369	0.074000	0.15403	GGA	IRS2	-	NULL		0.721	IRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRS2	HGNC	protein_coding	OTTHUMT00000045755.1	C	NM_003749		110438357	-1	no_errors	ENST00000375856	ensembl	human	known	70_37	missense	SNP	0.171	T
JAK3	3718	genome.wustl.edu	37	19	17951037	17951037	+	Splice_Site	SNP	A	A	G			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr19:17951037A>G	ENST00000527670.1	-	8	1284		c.e8+1		JAK3_ENST00000458235.1_Splice_Site|JAK3_ENST00000526008.1_Splice_Site|JAK3_ENST00000534444.1_Splice_Site			P52333	JAK3_HUMAN	Janus kinase 3						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)			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)	CAGTAGACCGACCTGGACACA	0.537		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""																																			Dom	yes		19	19p13.1	3718	Janus kinase 3		L	0													39.0	35.0	36.0					19																	17951037		2203	4300	6503	SO:0001630	splice_region_variant	3718			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.1254+1T>C	19.37:g.17951037A>G			Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Splice_Site	SNP	-	e8+2	ENST00000527670.1	37	c.1254+2	CCDS12366.1	19	.	.	.	.	.	.	.	.	.	.	A	6.088	0.384571	0.11524	.	.	ENSG00000105639	ENST00000458235;ENST00000428406;ENST00000527670;ENST00000534444	.	.	.	4.21	3.19	0.36642	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.6943	0.28585	0.8947:0.0:0.1053:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	JAK3	17812037	1.000000	0.71417	0.064000	0.19789	0.022000	0.10575	8.408000	0.90221	0.519000	0.28406	0.374000	0.22700	.	JAK3	-	-		0.537	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	JAK3	HGNC	protein_coding	OTTHUMT00000385549.1	A	NM_000215	Intron	17951037	-1	no_errors	ENST00000458235	ensembl	human	known	70_37	splice_site	SNP	0.775	G
KCNA3	3738	genome.wustl.edu	37	1	111217341	111217341	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr1:111217341C>T	ENST00000369769.2	-	1	314	c.91G>A	c.(91-93)Ggt>Agt	p.G31S		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	31					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	membrane raft (GO:0045121)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|voltage-gated ion channel activity (GO:0005244)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	Dalfampridine(DB06637)	GTGTGGGCACCGCCGCTGCTC	0.771																																																	0													4.0	5.0	4.0					1																	111217341		1211	2592	3803	SO:0001583	missense	3738			L23499	CCDS828.2	1p13.3	2012-07-05			ENSG00000177272	ENSG00000177272		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6221	protein-coding gene	gene with protein product		176263				2251283, 16382104	Standard	NM_002232		Approved	Kv1.3, MK3, HLK3, HPCN3	uc001dzv.1	P22001	OTTHUMG00000034493	ENST00000369769.2:c.91G>A	1.37:g.111217341C>T	ENSP00000358784:p.Gly31Ser		Q5VWN2	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.3,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv	p.G31S	ENST00000369769.2	37	c.91	CCDS828.2	1	.	.	.	.	.	.	.	.	.	.	C	12.26	1.884836	0.33255	.	.	ENSG00000177272	ENST00000369769	D	0.97328	-4.34	2.57	2.57	0.30868	.	903.776000	0.00397	U	0.000048	D	0.86581	0.5967	N	0.14661	0.345	0.25905	N	0.983301	B	0.31837	0.342	B	0.18561	0.022	T	0.83160	-0.0099	10	0.32370	T	0.25	.	9.9763	0.41786	0.0:1.0:0.0:0.0	.	31	P22001	KCNA3_HUMAN	S	31	ENSP00000358784:G31S	ENSP00000358784:G31S	G	-	1	0	KCNA3	111018864	0.001000	0.12720	0.119000	0.21687	0.097000	0.18754	-0.034000	0.12225	1.242000	0.43836	0.462000	0.41574	GGT	KCNA3	-	NULL		0.771	KCNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA3	HGNC	protein_coding	OTTHUMT00000083391.1	C	NM_002232		111217341	-1	no_errors	ENST00000369769	ensembl	human	known	70_37	missense	SNP	0.948	T
KCNQ1	3784	genome.wustl.edu	37	11	2714025	2714025	+	Intron	SNP	G	G	T			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr11:2714025G>T	ENST00000155840.5	+	11	1622				KCNQ1OT1_ENST00000597346.1_RNA|KCNQ1_ENST00000335475.5_Intron	NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 1						atrial cardiac muscle cell action potential (GO:0086014)|cardiac muscle contraction (GO:0060048)|cardiovascular system development (GO:0072358)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|gene silencing (GO:0016458)|male gonad development (GO:0008584)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of insulin secretion (GO:0046676)|positive regulation of gastric acid secretion (GO:0060454)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of heart contraction (GO:0008016)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	basolateral plasma membrane (GO:0016323)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated potassium channel complex (GO:0008076)|zymogen granule membrane (GO:0042589)	calmodulin binding (GO:0005516)|delayed rectifier potassium channel activity (GO:0005251)|ion channel binding (GO:0044325)|outward rectifier potassium channel activity (GO:0015271)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|protein phosphatase 1 binding (GO:0008157)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	aatatttcttgaatgactgca	0.512																																																	0																																										SO:0001627	intron_variant	10984			AF000571	CCDS7736.1	11p15.5	2014-09-17			ENSG00000053918	ENSG00000053918		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6294	protein-coding gene	gene with protein product	"""Jervell and Lange-Nielsen syndrome 1"""	607542		LQT, KCNA9		8528244, 16382104	Standard	NM_181798		Approved	Kv7.1, KCNA8, KVLQT1, JLNS1, LQT1	uc001lwn.3	P51787	OTTHUMG00000009900	ENST00000155840.5:c.1514+30714G>T	11.37:g.2714025G>T			O00347|O60607|O94787|Q14D14|Q7Z6G9|Q92960|Q9UMN8|Q9UMN9	RNA	SNP	-	NULL	ENST00000155840.5	37	NULL	CCDS7736.1	11																																																																																			KCNQ1OT1	-	-		0.512	KCNQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNQ1OT1	HGNC	protein_coding	OTTHUMT00000027382.2	G	NM_000218		2714025	-1	no_errors	ENST00000597346	ensembl	human	known	70_37	rna	SNP	0.000	T
KIAA2026	158358	genome.wustl.edu	37	9	6007361	6007361	+	Nonsense_Mutation	SNP	C	C	A			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr9:6007361C>A	ENST00000399933.3	-	1	426	c.427G>T	c.(427-429)Gaa>Taa	p.E143*	KIAA2026_ENST00000381461.2_Nonsense_Mutation_p.E143*|MIR4665_ENST00000581132.1_RNA	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	143								p.E143Q(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		AACTTCTCTTCCATCTGCAGC	0.692																																																	1	Substitution - Missense(1)	lung(1)											28.0	32.0	31.0					9																	6007361		1979	4140	6119	SO:0001587	stop_gained	158358			AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.427G>T	9.37:g.6007361C>A	ENSP00000382815:p.Glu143*		A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Nonsense_Mutation	SNP	superfamily_Bromodomain	p.E143*	ENST00000399933.3	37	c.427		9	.	.	.	.	.	.	.	.	.	.	C	36	5.623714	0.96660	.	.	ENSG00000183354	ENST00000399933;ENST00000381461;ENST00000513355	.	.	.	4.43	3.52	0.40303	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	.	12.3783	0.55293	0.1686:0.8314:0.0:0.0	.	.	.	.	X	143	.	ENSP00000370870:E143X	E	-	1	0	KIAA2026	5997361	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.070000	0.57548	0.976000	0.38417	0.561000	0.74099	GAA	KIAA2026	-	superfamily_Bromodomain		0.692	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	KIAA2026	HGNC	protein_coding	OTTHUMT00000051652.2	C	NM_001017969		6007361	-1	no_errors	ENST00000399933	ensembl	human	novel	70_37	nonsense	SNP	1.000	A
KIF11	3832	genome.wustl.edu	37	10	94410249	94410249	+	Nonsense_Mutation	SNP	C	C	A			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr10:94410249C>A	ENST00000260731.3	+	21	3104	c.3014C>A	c.(3013-3015)tCa>tAa	p.S1005*		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	1005					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|chromosome segregation (GO:0007059)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|spindle assembly involved in mitosis (GO:0090307)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GATTGTTCATCAATTGGCGGG	0.403																																					Colon(47;212 1003 2764 4062 8431)												0													145.0	134.0	138.0					10																	94410249		2203	4300	6503	SO:0001587	stop_gained	3832			X85137	CCDS7422.1	10q24.1	2008-03-03	2003-01-09	2003-01-10	ENSG00000138160	ENSG00000138160		"""Kinesins"""	6388	protein-coding gene	gene with protein product		148760	"""kinesin-like 1"""	KNSL1		1505978, 8548803	Standard	NM_004523		Approved	Eg5, HKSP, TRIP5	uc001kic.3	P52732	OTTHUMG00000018761	ENST00000260731.3:c.3014C>A	10.37:g.94410249C>A	ENSP00000260731:p.Ser1005*		A0AV49|B2RMV3|Q15716|Q5VWX0	Nonsense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.S1005*	ENST00000260731.3	37	c.3014	CCDS7422.1	10	.	.	.	.	.	.	.	.	.	.	C	40	7.936361	0.98571	.	.	ENSG00000138160	ENST00000260731	.	.	.	5.87	4.79	0.61399	.	0.217771	0.37053	N	0.002264	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.7977	0.46470	0.0:0.9023:0.0:0.0977	.	.	.	.	X	1005	.	ENSP00000260731:S1005X	S	+	2	0	KIF11	94400229	0.733000	0.28132	0.317000	0.25265	0.609000	0.37215	1.892000	0.39748	2.788000	0.95919	0.650000	0.86243	TCA	KIF11	-	NULL		0.403	KIF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF11	HGNC	protein_coding	OTTHUMT00000049401.1	C	NM_004523		94410249	+1	no_errors	ENST00000260731	ensembl	human	known	70_37	nonsense	SNP	0.009	A
KIFC1	3833	genome.wustl.edu	37	6	33371529	33371530	+	Nonsense_Mutation	DNP	GG	GG	TA			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr6:33371529_33371530GG>TA	ENST00000428849.2	+	6	829_830	c.379_380GG>TA	c.(379-381)GGa>TAa	p.G127*	KIFC1_ENST00000486695.1_3'UTR	NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	127					ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|spindle assembly (GO:0051225)	endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|minus-end-directed microtubule motor activity (GO:0008569)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						TCCCATGGCAGGAGGGAAGAAA	0.495																																																	0																																										SO:0001587	stop_gained	3833			D14678	CCDS34430.1	6p21.32	2014-05-15	2003-01-09	2003-01-10	ENSG00000237649	ENSG00000237649		"""Kinesins"""	6389	protein-coding gene	gene with protein product		603763	"""kinesin-like 2"""	KNSL2		8276466	Standard	NM_002263		Approved	HSET	uc003oef.4	Q9BW19	OTTHUMG00000031209	Exception_encountered	6.37:g.33371529_33371530delinsTA	ENSP00000393963:p.Gly127*		O60887|Q14834|Q4KMP0|Q5SU09|Q6GMS7|Q6P4A5|Q9UQP7	Nonsense_Mutation|Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.G127*|p.G127E	ENST00000428849.2	37	c.379|c.380	CCDS34430.1	6																																																																																			KIFC1	-	NULL		0.495	KIFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIFC1	HGNC	protein_coding	OTTHUMT00000076417.1	G	NM_002263		33371529|33371530	+1	no_errors	ENST00000428849	ensembl	human	known	70_37	nonsense|missense	SNP	0.003	T|A
KIFC1	3833	genome.wustl.edu	37	6	33371529	33371530	+	Nonsense_Mutation	DNP	GG	GG	TA			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr6:33371529_33371530GG>TA	ENST00000428849.2	+	6	829_830	c.379_380GG>TA	c.(379-381)GGa>TAa	p.G127*	KIFC1_ENST00000486695.1_3'UTR	NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	127					ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|spindle assembly (GO:0051225)	endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|minus-end-directed microtubule motor activity (GO:0008569)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						TCCCATGGCAGGAGGGAAGAAA	0.495																																																	0																																										SO:0001587	stop_gained	3833			D14678	CCDS34430.1	6p21.32	2014-05-15	2003-01-09	2003-01-10	ENSG00000237649	ENSG00000237649		"""Kinesins"""	6389	protein-coding gene	gene with protein product		603763	"""kinesin-like 2"""	KNSL2		8276466	Standard	NM_002263		Approved	HSET	uc003oef.4	Q9BW19	OTTHUMG00000031209	Exception_encountered	6.37:g.33371529_33371530delinsTA	ENSP00000393963:p.Gly127*		O60887|Q14834|Q4KMP0|Q5SU09|Q6GMS7|Q6P4A5|Q9UQP7	Nonsense_Mutation|Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.G127*|p.G127E	ENST00000428849.2	37	c.379|c.380	CCDS34430.1	6																																																																																			KIFC1	-	NULL		0.495	KIFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIFC1	HGNC	protein_coding	OTTHUMT00000076417.1	G	NM_002263		33371529|33371530	+1	no_errors	ENST00000428849	ensembl	human	known	70_37	nonsense|missense	SNP	0.003	T|A
KIFC1	3833	genome.wustl.edu	37	6	33371529	33371530	+	Nonsense_Mutation	DNP	GG	GG	TA			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr6:33371529_33371530GG>TA	ENST00000428849.2	+	6	829_830	c.379_380GG>TA	c.(379-381)GGa>TAa	p.G127*	KIFC1_ENST00000486695.1_3'UTR	NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	127					ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|spindle assembly (GO:0051225)	endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|minus-end-directed microtubule motor activity (GO:0008569)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						TCCCATGGCAGGAGGGAAGAAA	0.495																																																	0																																										SO:0001587	stop_gained	3833			D14678	CCDS34430.1	6p21.32	2014-05-15	2003-01-09	2003-01-10	ENSG00000237649	ENSG00000237649		"""Kinesins"""	6389	protein-coding gene	gene with protein product		603763	"""kinesin-like 2"""	KNSL2		8276466	Standard	NM_002263		Approved	HSET	uc003oef.4	Q9BW19	OTTHUMG00000031209	Exception_encountered	6.37:g.33371529_33371530delinsTA	ENSP00000393963:p.Gly127*		O60887|Q14834|Q4KMP0|Q5SU09|Q6GMS7|Q6P4A5|Q9UQP7	Nonsense_Mutation|Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.G127*|p.G127E	ENST00000428849.2	37	c.379|c.380	CCDS34430.1	6																																																																																			KIFC1	-	NULL		0.495	KIFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIFC1	HGNC	protein_coding	OTTHUMT00000076417.1	G	NM_002263		33371529|33371530	+1	no_errors	ENST00000428849	ensembl	human	known	70_37	nonsense|missense	SNP	0.003	T|A
KIFC1	3833	genome.wustl.edu	37	6	33371529	33371530	+	Nonsense_Mutation	DNP	GG	GG	TA			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr6:33371529_33371530GG>TA	ENST00000428849.2	+	6	829_830	c.379_380GG>TA	c.(379-381)GGa>TAa	p.G127*	KIFC1_ENST00000486695.1_3'UTR	NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	127					ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|spindle assembly (GO:0051225)	endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|minus-end-directed microtubule motor activity (GO:0008569)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						TCCCATGGCAGGAGGGAAGAAA	0.495																																																	0																																										SO:0001587	stop_gained	3833			D14678	CCDS34430.1	6p21.32	2014-05-15	2003-01-09	2003-01-10	ENSG00000237649	ENSG00000237649		"""Kinesins"""	6389	protein-coding gene	gene with protein product		603763	"""kinesin-like 2"""	KNSL2		8276466	Standard	NM_002263		Approved	HSET	uc003oef.4	Q9BW19	OTTHUMG00000031209	Exception_encountered	6.37:g.33371529_33371530delinsTA	ENSP00000393963:p.Gly127*		O60887|Q14834|Q4KMP0|Q5SU09|Q6GMS7|Q6P4A5|Q9UQP7	Nonsense_Mutation|Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.G127*|p.G127E	ENST00000428849.2	37	c.379|c.380	CCDS34430.1	6																																																																																			KIFC1	-	NULL		0.495	KIFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIFC1	HGNC	protein_coding	OTTHUMT00000076417.1	G	NM_002263		33371529|33371530	+1	no_errors	ENST00000428849	ensembl	human	known	70_37	nonsense|missense	SNP	0.003	T|A
LARP7	51574	genome.wustl.edu	37	4	113578653	113578653	+	3'UTR	SNP	A	A	G			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr4:113578653A>G	ENST00000344442.5	+	0	2197				LARP7_ENST00000324052.6_3'UTR|LARP7_ENST00000509061.1_3'UTR|LARP7_ENST00000503898.1_3'UTR	NM_016648.3	NP_057732.2	Q4G0J3	LARP7_HUMAN	La ribonucleoprotein domain family, member 7						RNA processing (GO:0006396)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	17		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		TATGATGTATACCACAATTTT	0.249																																																	0																																										SO:0001624	3_prime_UTR_variant	51574			AF068284	CCDS3701.2, CCDS58924.1	4q25	2013-02-12			ENSG00000174720	ENSG00000174720		"""La ribonucleoprotein domain containing"", ""RNA binding motif (RRM) containing"""	24912	protein-coding gene	gene with protein product	"""P-TEFb-interaction protein for 7SK stability"""	612026				18191186, 18249148, 18281698, 22865833, 22488152	Standard	NM_016648		Approved	HDCMA18P, PIP7S, DKFZP564K112	uc003ibb.4	Q4G0J3	OTTHUMG00000132909	ENST00000344442.5:c.*170A>G	4.37:g.113578653A>G			B2ZHN6|Q3B7A9|Q9P1S7|Q9Y3Z8	RNA	SNP	-	NULL	ENST00000344442.5	37	NULL	CCDS3701.2	4																																																																																			LARP7	-	-		0.249	LARP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LARP7	HGNC	protein_coding	OTTHUMT00000256417.2	A	NM_016648		113578653	+1	no_errors	ENST00000503898	ensembl	human	putative	70_37	rna	SNP	0.000	G
LINC00243	401247	genome.wustl.edu	37	6	30781149	30781149	+	RNA	SNP	C	C	T			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr6:30781149C>T	ENST00000399196.1	-	0	1545									long intergenic non-protein coding RNA 243																		CTCTGCCCAGCATGTTCTTGA	0.468																																																	0																																												401247			AK098012		6p21.33	2012-10-12	2011-08-11	2011-08-11	ENSG00000236006	ENSG00000214894		"""Long non-coding RNAs"""	30956	non-coding RNA	RNA, long non-coding			"""chromosome 6 open reading frame 214 (putative)"", ""non-protein coding RNA 243"""	C6orf214, NCRNA00243			Standard	XR_159458		Approved	bQB230F21.2, FLJ40693, bQB10J12.2			OTTHUMG00000031539		6.37:g.30781149C>T				RNA	SNP	-	NULL	ENST00000399196.1	37	NULL		6																																																																																			LINC00243	-	-		0.468	LINC00243-001	KNOWN	basic|exp_conf	processed_transcript	LINC00243	HGNC	processed_transcript	OTTHUMT00000076501.3	C			30781149	-1	no_errors	ENST00000399196	ensembl	human	known	70_37	rna	SNP	0.001	T
LINC00491	285708	genome.wustl.edu	37	5	101953227	101953227	+	lincRNA	SNP	G	G	C	rs140078938		TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr5:101953227G>C	ENST00000510145.1	-	0	333				LINC00492_ENST00000504436.1_lincRNA					long intergenic non-protein coding RNA 491																		CCCACCCTACGTAAGTTGACA	0.368																																																	0																																												100861468			CN270888		5q21.1	2014-09-10			ENSG00000250682	ENSG00000250682		"""Long non-coding RNAs"""	43428	non-coding RNA	RNA, long non-coding						25200694	Standard	NR_103753		Approved	BC008363			OTTHUMG00000162775		5.37:g.101953227G>C				RNA	SNP	-	NULL	ENST00000510145.1	37	NULL		5																																																																																			LINC00492	-	-		0.368	LINC00491-004	KNOWN	basic	lincRNA	LINC00492	HGNC	lincRNA	OTTHUMT00000370374.1	G			101953227	+1	no_errors	ENST00000504436	ensembl	human	known	70_37	rna	SNP	0.147	C
LIPA	3988	genome.wustl.edu	37	10	90984904	90984904	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr10:90984904G>A	ENST00000336233.5	-	6	942	c.620C>T	c.(619-621)gCc>gTc	p.A207V	LIPA_ENST00000456827.1_Missense_Mutation_p.A207V|LIPA_ENST00000371837.1_Missense_Mutation_p.A151V			P38571	LICH_HUMAN	lipase A, lysosomal acid, cholesterol esterase	207					cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cytokine production (GO:0001816)|homeostasis of number of cells within a tissue (GO:0048873)|inflammatory response (GO:0006954)|lipid catabolic process (GO:0016042)|lung development (GO:0030324)|tissue remodeling (GO:0048771)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	lipase activity (GO:0016298)|sterol esterase activity (GO:0004771)			endometrium(1)|large_intestine(2)|lung(3)	6		Colorectal(252;0.0162)		GBM - Glioblastoma multiforme(2;0.00406)		AGTACAGAAGGCGACGGAAGC	0.478																																																	0													171.0	193.0	185.0					10																	90984904		2203	4300	6503	SO:0001583	missense	3988			M74775	CCDS7401.1, CCDS73160.1	10q23.2-q23.3	2012-07-13	2008-08-01		ENSG00000107798	ENSG00000107798	3.1.1.13		6617	protein-coding gene	gene with protein product	"""Wolman disease"""	613497				8432549	Standard	NM_000235		Approved	LAL, CESD	uc009xtq.3	P38571	OTTHUMG00000018716	ENST00000336233.5:c.620C>T	10.37:g.90984904G>A	ENSP00000337354:p.Ala207Val		B2RBH5|D3DR29|Q16529|Q53H21|Q5T074|Q5T771|Q96EJ0	Missense_Mutation	SNP	pfam_AB_hydrolase_1,pfam_AB_hydrolase_lipase	p.A209V	ENST00000336233.5	37	c.626	CCDS7401.1	10	.	.	.	.	.	.	.	.	.	.	G	12.74	2.029747	0.35797	.	.	ENSG00000107798	ENST00000336233;ENST00000371837;ENST00000371829;ENST00000541980;ENST00000354621;ENST00000456827;ENST00000425287;ENST00000428800;ENST00000282673	T;T;T;T;T	0.71222	-0.55;-0.55;-0.55;-0.55;-0.55	4.95	-0.214	0.13161	Alpha/beta hydrolase fold-1 (1);	2.229260	0.01370	N	0.012524	T	0.70561	0.3238	M	0.79343	2.45	0.09310	N	0.999999	B;B;B	0.25563	0.129;0.007;0.004	B;B;B	0.28553	0.091;0.015;0.016	T	0.47674	-0.9099	10	0.52906	T	0.07	0.4453	3.501	0.07673	0.1217:0.071:0.2846:0.5226	.	209;151;207	E7EUT7;P38571-2;P38571	.;.;LICH_HUMAN	V	207;151;207;207;165;207;209;207;207	ENSP00000337354:A207V;ENSP00000360903:A151V;ENSP00000413019:A207V;ENSP00000388415:A207V;ENSP00000282673:A207V	ENSP00000282673:A207V	A	-	2	0	LIPA	90974884	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.242000	0.18087	-0.119000	0.11830	-1.330000	0.01273	GCC	LIPA	-	pfam_AB_hydrolase_1		0.478	LIPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIPA	HGNC	protein_coding	OTTHUMT00000049308.1	G	NM_000235		90984904	-1	no_errors	ENST00000425287	ensembl	human	known	70_37	missense	SNP	0.000	A
LIPA	3988	genome.wustl.edu	37	10	90984904	90984904	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr10:90984904G>A	ENST00000336233.5	-	6	942	c.620C>T	c.(619-621)gCc>gTc	p.A207V	LIPA_ENST00000456827.1_Missense_Mutation_p.A207V|LIPA_ENST00000371837.1_Missense_Mutation_p.A151V			P38571	LICH_HUMAN	lipase A, lysosomal acid, cholesterol esterase	207					cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cytokine production (GO:0001816)|homeostasis of number of cells within a tissue (GO:0048873)|inflammatory response (GO:0006954)|lipid catabolic process (GO:0016042)|lung development (GO:0030324)|tissue remodeling (GO:0048771)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	lipase activity (GO:0016298)|sterol esterase activity (GO:0004771)			endometrium(1)|large_intestine(2)|lung(3)	6		Colorectal(252;0.0162)		GBM - Glioblastoma multiforme(2;0.00406)		AGTACAGAAGGCGACGGAAGC	0.478																																																	0													171.0	193.0	185.0					10																	90984904		2203	4300	6503	SO:0001583	missense	3988			M74775	CCDS7401.1, CCDS73160.1	10q23.2-q23.3	2012-07-13	2008-08-01		ENSG00000107798	ENSG00000107798	3.1.1.13		6617	protein-coding gene	gene with protein product	"""Wolman disease"""	613497				8432549	Standard	NM_000235		Approved	LAL, CESD	uc009xtq.3	P38571	OTTHUMG00000018716	ENST00000336233.5:c.620C>T	10.37:g.90984904G>A	ENSP00000337354:p.Ala207Val		B2RBH5|D3DR29|Q16529|Q53H21|Q5T074|Q5T771|Q96EJ0	Missense_Mutation	SNP	pfam_AB_hydrolase_1,pfam_AB_hydrolase_lipase	p.A209V	ENST00000336233.5	37	c.626	CCDS7401.1	10	.	.	.	.	.	.	.	.	.	.	G	12.74	2.029747	0.35797	.	.	ENSG00000107798	ENST00000336233;ENST00000371837;ENST00000371829;ENST00000541980;ENST00000354621;ENST00000456827;ENST00000425287;ENST00000428800;ENST00000282673	T;T;T;T;T	0.71222	-0.55;-0.55;-0.55;-0.55;-0.55	4.95	-0.214	0.13161	Alpha/beta hydrolase fold-1 (1);	2.229260	0.01370	N	0.012524	T	0.70561	0.3238	M	0.79343	2.45	0.09310	N	0.999999	B;B;B	0.25563	0.129;0.007;0.004	B;B;B	0.28553	0.091;0.015;0.016	T	0.47674	-0.9099	10	0.52906	T	0.07	0.4453	3.501	0.07673	0.1217:0.071:0.2846:0.5226	.	209;151;207	E7EUT7;P38571-2;P38571	.;.;LICH_HUMAN	V	207;151;207;207;165;207;209;207;207	ENSP00000337354:A207V;ENSP00000360903:A151V;ENSP00000413019:A207V;ENSP00000388415:A207V;ENSP00000282673:A207V	ENSP00000282673:A207V	A	-	2	0	LIPA	90974884	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.242000	0.18087	-0.119000	0.11830	-1.330000	0.01273	GCC	LIPA	-	pfam_AB_hydrolase_1		0.478	LIPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIPA	HGNC	protein_coding	OTTHUMT00000049308.1	G	NM_000235		90984904	-1	no_errors	ENST00000425287	ensembl	human	known	70_37	missense	SNP	0.000	A
RAB6C-AS1	100131320	genome.wustl.edu	37	2	130724286	130724287	+	RNA	INS	-	-	C	rs112798148	byFrequency	TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr2:130724286_130724287insC	ENST00000412425.1	-	0	2331_2332					NR_036537.1																						TATTAAGAAATCGGGTTTGAAT	0.337																																																	0																																												100131320																															2.37:g.130724287_130724287dupC				RNA	INS	-	NULL	ENST00000412425.1	37	NULL		2																																																																																			AC079776.7	-	-		0.337	AC079776.7-002	KNOWN	basic	processed_transcript	LOC100131320	Clone_based_vega_gene	pseudogene	OTTHUMT00000331383.1	-			130724287	-1	no_errors	ENST00000412425	ensembl	human	known	70_37	rna	INS	0.002:0.001	C
LOC100132077	100132077	genome.wustl.edu	37	9	97123046	97123046	+	lincRNA	SNP	G	G	A			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr9:97123046G>A	ENST00000454869.1	+	0	1978					NR_033937.1																						ccaacgtggtgaaaacccatc	0.547																																																	0																																												100132077																															9.37:g.97123046G>A				RNA	SNP	-	NULL	ENST00000454869.1	37	NULL		9																																																																																			RP11-307E17.8	-	-		0.547	RP11-307E17.8-001	KNOWN	basic	lincRNA	LOC100132077	Clone_based_vega_gene	lincRNA	OTTHUMT00000053177.1	G			97123046	+1	no_errors	ENST00000454869	ensembl	human	known	70_37	rna	SNP	0.001	A
LINC00930	100144604	genome.wustl.edu	37	15	93114612	93114612	+	lincRNA	SNP	G	G	A			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr15:93114612G>A	ENST00000557075.1	-	0	660					NR_021493.1				long intergenic non-protein coding RNA 930																		TCAACACCTCGTCTTCCTCCA	0.527																																																	0																																												100144604					15q26.1	2013-05-24			ENSG00000258647	ENSG00000258647		"""Long non-coding RNAs"""	48620	non-coding RNA	RNA, long non-coding							Standard	NR_021493		Approved				OTTHUMG00000171742		15.37:g.93114612G>A				RNA	SNP	-	NULL	ENST00000557075.1	37	NULL		15																																																																																			RP11-304N14.2	-	-		0.527	LINC00930-002	KNOWN	basic	lincRNA	LOC100144604	Clone_based_vega_gene	lincRNA	OTTHUMT00000414928.1	G			93114612	-1	no_errors	ENST00000557075	ensembl	human	known	70_37	rna	SNP	0.000	A
MIR7515	102466235	genome.wustl.edu	37	2	6765210	6765210	+	IGR	SNP	C	C	A			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr2:6765210C>A								AC021021.2 (121272 upstream) : hsa-mir-7515 (7362 downstream)																							cacttgaatccgggaggcgga	0.473																																																	0																																										SO:0001628	intergenic_variant	100506216																															2.37:g.6765210C>A				RNA	SNP	-	NULL		37	NULL		2																																																																																			AC097517.2	-	-	0	0.473					LOC100506216	Clone_based_vega_gene			C			6765210	-1	no_errors	ENST00000589150	ensembl	human	known	70_37	rna	SNP	0.014	A
LOC100506123	100506123	genome.wustl.edu	37	2	98088527	98088527	+	lincRNA	SNP	G	G	C			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr2:98088527G>C	ENST00000492960.2	-	0	2410				AC159540.2_ENST00000598371.1_lincRNA	NR_040097.1																						CATTGACTCTGACCAGAACTC	0.353																																																	0																																												100506123																															2.37:g.98088527G>C				RNA	SNP	-	NULL	ENST00000492960.2	37	NULL		2																																																																																			AC159540.1	-	-		0.353	AC159540.1-001	KNOWN	basic|exp_conf	lincRNA	LOC100506123	Clone_based_vega_gene	lincRNA	OTTHUMT00000328919.2	G			98088527	-1	no_errors	ENST00000431244	ensembl	human	known	70_37	rna	SNP	0.142	C
ZNF254	9534	genome.wustl.edu	37	19	24248750	24248750	+	Intron	SNP	C	C	T			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr19:24248750C>T	ENST00000342944.6	+	2	244				CTD-2017D11.1_ENST00000597683.1_lincRNA	NM_001278663.1	NP_001265592.1	O75437	ZN254_HUMAN	zinc finger protein 254						negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				tcttctcctgcctgatctctg	0.458																																																	0																																										SO:0001627	intron_variant	100996381			AF054180	CCDS32983.1, CCDS62622.1, CCDS62623.1, CCDS74323.1, CCDS74324.1	19p13	2013-01-08				ENSG00000213096		"""Zinc fingers, C2H2-type"", ""-"""	13047	protein-coding gene	gene with protein product		604768	"""zinc finger protein 539"""	ZNF91L, ZNF539		9653160	Standard	NM_001278661		Approved	HD-ZNF1, BMZF-5	uc002nru.3	O75437		ENST00000342944.6:c.-3+19669C>T	19.37:g.24248750C>T			A4QPC0|Q86XL7	RNA	SNP	-	NULL	ENST00000342944.6	37	NULL		19																																																																																			CTD-2017D11.1	-	-		0.458	ZNF254-201	KNOWN	basic	protein_coding	LOC100996381	Clone_based_vega_gene	protein_coding		C	NM_004876		24248750	+1	no_errors	ENST00000594934	ensembl	human	known	70_37	rna	SNP	0.180	T
LINC00922	283867	genome.wustl.edu	37	16	65409133	65409133	+	lincRNA	SNP	G	G	A			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr16:65409133G>A	ENST00000569736.1	-	0	217				RP11-256I9.3_ENST00000562656.1_lincRNA	NR_027755.1				long intergenic non-protein coding RNA 922																		tcaggaggctgaggtaggaga	0.502																																																	0																																												283867			BC037902, BC104446		16q21	2013-05-24			ENSG00000261742	ENSG00000261742		"""Long non-coding RNAs"""	27545	non-coding RNA	RNA, long non-coding							Standard	NR_027755		Approved				OTTHUMG00000172812		16.37:g.65409133G>A				RNA	SNP	-	NULL	ENST00000569736.1	37	NULL		16																																																																																			RP11-256I9.1	-	-		0.502	LINC00922-001	KNOWN	basic	lincRNA	LOC283867	Clone_based_vega_gene	lincRNA	OTTHUMT00000420601.2	G	NR_027755		65409133	-1	no_errors	ENST00000564041	ensembl	human	known	70_37	rna	SNP	0.027	A
LOC101927768	101927768	genome.wustl.edu	37	6	114320894	114320894	+	RNA	SNP	G	G	T			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr6:114320894G>T	ENST00000519104.1	+	0	1310				RP3-399L15.3_ENST00000421891.2_RNA|RP3-399L15.3_ENST00000519270.1_RNA|RP3-399L15.3_ENST00000523087.1_RNA																							TAGGGAGAAAGTTGCTAGGTT	0.383																																																	0																																												441167																															6.37:g.114320894G>T				RNA	SNP	-	NULL	ENST00000519104.1	37	NULL		6																																																																																			RP3-399L15.3	-	-		0.383	RP3-399L15.3-004	KNOWN	basic	antisense	LOC441167	Clone_based_vega_gene	antisense	OTTHUMT00000379761.1	G			114320894	+1	no_errors	ENST00000421891	ensembl	human	known	70_37	rna	SNP	1.000	T
LINC00917	732275	genome.wustl.edu	37	16	86366189	86366189	+	lincRNA	SNP	A	A	T			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr16:86366189A>T	ENST00000594203.1	-	0	1938									long intergenic non-protein coding RNA 917																		TCCTCGTGGCAGGGACCATGC	0.552																																																	0																																												732275					16q24.1	2013-05-24			ENSG00000168367	ENSG00000168367		"""Long non-coding RNAs"""	48607	non-coding RNA	RNA, long non-coding							Standard	NR_024406		Approved				OTTHUMG00000183867		16.37:g.86366189A>T				RNA	SNP	-	NULL	ENST00000594203.1	37	NULL		16																																																																																			RP11-158I3.2	-	-		0.552	LINC00917-002	KNOWN	basic	lincRNA	LOC732275	Clone_based_vega_gene	lincRNA	OTTHUMT00000467202.1	A			86366189	-1	no_errors	ENST00000594203	ensembl	human	known	70_37	rna	SNP	0.017	T
LRP5	4041	genome.wustl.edu	37	11	68131409	68131409	+	Missense_Mutation	SNP	T	T	A			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr11:68131409T>A	ENST00000294304.7	+	4	987	c.881T>A	c.(880-882)tTc>tAc	p.F294Y		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	294					adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CGGCAGCCTTTCTGTGAGTGC	0.716																																																	0													23.0	21.0	22.0					11																	68131409		2200	4292	6492	SO:0001583	missense	4041			AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"""Low density lipoprotein receptors"""	6697	protein-coding gene	gene with protein product		603506	"""osteoporosis pseudoglioma syndrome"", ""exudative vitreoretinopathy 1"""	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.881T>A	11.37:g.68131409T>A	ENSP00000294304:p.Phe294Tyr		Q96TD6|Q9UES7|Q9UP66	Missense_Mutation	SNP	pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.F294Y	ENST00000294304.7	37	c.881	CCDS8181.1	11	.	.	.	.	.	.	.	.	.	.	T	8.676	0.903879	0.17760	.	.	ENSG00000162337	ENST00000294304	D	0.92965	-3.14	3.26	-0.312	0.12758	Six-bladed beta-propeller, TolB-like (1);	2.002190	0.03671	N	0.243952	T	0.77903	0.4200	N	0.02854	-0.475	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.71457	-0.4587	10	0.06236	T	0.91	.	6.4446	0.21869	0.666:0.21:0.0:0.124	.	294	O75197	LRP5_HUMAN	Y	294	ENSP00000294304:F294Y	ENSP00000294304:F294Y	F	+	2	0	LRP5	67887985	0.026000	0.19158	0.981000	0.43875	0.910000	0.53928	1.087000	0.30865	-0.167000	0.10871	-0.475000	0.04921	TTC	LRP5	-	pirsf_Low_density_Lipo_rcpt-rel_p5/6		0.716	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP5	HGNC	protein_coding	OTTHUMT00000395088.1	T	NM_002335		68131409	+1	no_errors	ENST00000294304	ensembl	human	known	70_37	missense	SNP	0.032	A
LRP5	4041	genome.wustl.edu	37	11	68131409	68131409	+	Missense_Mutation	SNP	T	T	A			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr11:68131409T>A	ENST00000294304.7	+	4	987	c.881T>A	c.(880-882)tTc>tAc	p.F294Y		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	294					adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CGGCAGCCTTTCTGTGAGTGC	0.716																																																	0													23.0	21.0	22.0					11																	68131409		2200	4292	6492	SO:0001583	missense	4041			AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"""Low density lipoprotein receptors"""	6697	protein-coding gene	gene with protein product		603506	"""osteoporosis pseudoglioma syndrome"", ""exudative vitreoretinopathy 1"""	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.881T>A	11.37:g.68131409T>A	ENSP00000294304:p.Phe294Tyr		Q96TD6|Q9UES7|Q9UP66	Missense_Mutation	SNP	pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.F294Y	ENST00000294304.7	37	c.881	CCDS8181.1	11	.	.	.	.	.	.	.	.	.	.	T	8.676	0.903879	0.17760	.	.	ENSG00000162337	ENST00000294304	D	0.92965	-3.14	3.26	-0.312	0.12758	Six-bladed beta-propeller, TolB-like (1);	2.002190	0.03671	N	0.243952	T	0.77903	0.4200	N	0.02854	-0.475	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.71457	-0.4587	10	0.06236	T	0.91	.	6.4446	0.21869	0.666:0.21:0.0:0.124	.	294	O75197	LRP5_HUMAN	Y	294	ENSP00000294304:F294Y	ENSP00000294304:F294Y	F	+	2	0	LRP5	67887985	0.026000	0.19158	0.981000	0.43875	0.910000	0.53928	1.087000	0.30865	-0.167000	0.10871	-0.475000	0.04921	TTC	LRP5	-	pirsf_Low_density_Lipo_rcpt-rel_p5/6		0.716	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP5	HGNC	protein_coding	OTTHUMT00000395088.1	T	NM_002335		68131409	+1	no_errors	ENST00000294304	ensembl	human	known	70_37	missense	SNP	0.032	A
LRRC37A11P	342666	genome.wustl.edu	37	17	37200751	37200751	+	RNA	SNP	T	T	C			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr17:37200751T>C	ENST00000425901.2	+	0	2796					NR_033753.2				leucine rich repeat containing 37, member A11, pseudogene																		AGAAAGGCTATACCTTggccc	0.468																																																	0																																												342666					17q12	2013-05-14			ENSG00000214553	ENSG00000214553			43815	pseudogene	pseudogene							Standard	NR_033753		Approved		uc002hrd.1		OTTHUMG00000133184		17.37:g.37200751T>C				RNA	SNP	-	NULL	ENST00000425901.2	37	NULL		17																																																																																			LRRC37A11P	-	-		0.468	LRRC37A11P-002	KNOWN	basic	processed_transcript	LRRC37A11P	HGNC	pseudogene	OTTHUMT00000444105.1	T	NR_033753		37200751	+1	no_errors	ENST00000425901	ensembl	human	known	70_37	rna	SNP	0.001	C
LRRC37A2	474170	genome.wustl.edu	37	17	44623731	44623731	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr17:44623731C>T	ENST00000576629.1	+	9	3659	c.3164C>T	c.(3163-3165)aCa>aTa	p.T1055I	ARL17A_ENST00000329240.4_Intron|ARL17A_ENST00000337845.7_Intron|LRRC37A2_ENST00000333412.3_Missense_Mutation_p.T1055I|ARL17A_ENST00000445552.2_Intron			A6NM11	L37A2_HUMAN	leucine rich repeat containing 37, member A2	1055						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2)	15		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		ACAAACACCACACATTGTCGT	0.368																																																	0													1.0	2.0	2.0					17																	44623731		518	1407	1925	SO:0001583	missense	474170			AY386262	CCDS42353.1	17q21.31	2013-05-14			ENSG00000238083	ENSG00000238083			32404	protein-coding gene	gene with protein product	"""c114 SLIT-like testicular protein"""						Standard	NM_001006607		Approved	FLJ45049	uc002ikn.1	A6NM11	OTTHUMG00000178032	ENST00000576629.1:c.3164C>T	17.37:g.44623731C>T	ENSP00000459551:p.Thr1055Ile		B7ZMC3	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.T1055I	ENST00000576629.1	37	c.3164	CCDS42353.1	17	.	.	.	.	.	.	.	.	.	.	c	4.323	0.059256	0.08339	.	.	ENSG00000238083	ENST00000333412	T	0.60920	0.15	3.66	1.55	0.23275	.	.	.	.	.	T	0.27027	0.0662	N	0.02158	-0.66	0.09310	N	1	B	0.11235	0.004	B	0.11329	0.006	T	0.19811	-1.0294	9	0.29301	T	0.29	.	6.1629	0.20373	0.182:0.7024:0.0:0.1157	.	1055	A6NM11	L37A2_HUMAN	I	1055	ENSP00000333071:T1055I	ENSP00000333071:T1055I	T	+	2	0	LRRC37A2	41979047	0.000000	0.05858	0.001000	0.08648	0.060000	0.15804	-0.973000	0.03798	-0.048000	0.13401	-1.514000	0.00941	ACA	LRRC37A2	-	NULL		0.368	LRRC37A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC37A2	HGNC	protein_coding	OTTHUMT00000440299.2	C	NM_001006607		44623731	+1	no_errors	ENST00000333412	ensembl	human	known	70_37	missense	SNP	0.001	T
MAEA	10296	genome.wustl.edu	37	4	1293467	1293467	+	Intron	SNP	C	C	A			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr4:1293467C>A	ENST00000303400.4	+	1	132				MAEA_ENST00000514708.1_Intron|MAEA_ENST00000452175.2_Intron|MAEA_ENST00000505177.2_Intron|MAEA_ENST00000264750.6_Intron	NM_001017405.1	NP_001017405.1	Q7L5Y9	MAEA_HUMAN	macrophage erythroblast attacher						cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|cytoskeleton organization (GO:0007010)|enucleate erythrocyte development (GO:0048822)|erythrocyte maturation (GO:0043249)|negative regulation of myeloid cell apoptotic process (GO:0033033)|regulation of mitotic cell cycle (GO:0007346)	actomyosin contractile ring (GO:0005826)|cytoskeleton (GO:0005856)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(23;0.0201)		WF10(DB05389)	cttcctctgtctggagcgctc	0.597																																																	0																																										SO:0001627	intron_variant	10296			AF084928	CCDS33936.1, CCDS33937.1, CCDS75090.1	4p16.3	2012-07-20			ENSG00000090316	ENSG00000090316			13731	protein-coding gene	gene with protein product	"""GID complex subunit 9, FYV10 homolog (S. cerevisiae)"""	606801				9763581	Standard	XM_005272243		Approved	EMP, GID9	uc003gda.3	Q7L5Y9	OTTHUMG00000160169	ENST00000303400.4:c.69+9697C>A	4.37:g.1293467C>A			O95285|Q5JB54|Q6ZRD6|Q9BQ11|Q9H9V6|Q9H9Z4|Q9NW84	RNA	SNP	-	NULL	ENST00000303400.4	37	NULL	CCDS33936.1	4																																																																																			MAEA	-	-		0.597	MAEA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAEA	HGNC	protein_coding	OTTHUMT00000359511.1	C	NM_005882		1293467	+1	no_errors	ENST00000510862	ensembl	human	putative	70_37	rna	SNP	0.002	A
MAEA	10296	genome.wustl.edu	37	4	1293500	1293500	+	Intron	SNP	C	C	A			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr4:1293500C>A	ENST00000303400.4	+	1	132				MAEA_ENST00000514708.1_Intron|MAEA_ENST00000452175.2_Intron|MAEA_ENST00000505177.2_Intron|MAEA_ENST00000264750.6_Intron	NM_001017405.1	NP_001017405.1	Q7L5Y9	MAEA_HUMAN	macrophage erythroblast attacher						cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|cytoskeleton organization (GO:0007010)|enucleate erythrocyte development (GO:0048822)|erythrocyte maturation (GO:0043249)|negative regulation of myeloid cell apoptotic process (GO:0033033)|regulation of mitotic cell cycle (GO:0007346)	actomyosin contractile ring (GO:0005826)|cytoskeleton (GO:0005856)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(23;0.0201)		WF10(DB05389)	tccatggtcccatgtcctcac	0.567																																																	0																																										SO:0001627	intron_variant	10296			AF084928	CCDS33936.1, CCDS33937.1, CCDS75090.1	4p16.3	2012-07-20			ENSG00000090316	ENSG00000090316			13731	protein-coding gene	gene with protein product	"""GID complex subunit 9, FYV10 homolog (S. cerevisiae)"""	606801				9763581	Standard	XM_005272243		Approved	EMP, GID9	uc003gda.3	Q7L5Y9	OTTHUMG00000160169	ENST00000303400.4:c.69+9730C>A	4.37:g.1293500C>A			O95285|Q5JB54|Q6ZRD6|Q9BQ11|Q9H9V6|Q9H9Z4|Q9NW84	RNA	SNP	-	NULL	ENST00000303400.4	37	NULL	CCDS33936.1	4																																																																																			MAEA	-	-		0.567	MAEA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAEA	HGNC	protein_coding	OTTHUMT00000359511.1	C	NM_005882		1293500	+1	no_errors	ENST00000510862	ensembl	human	putative	70_37	rna	SNP	0.014	A
MAML2	84441	genome.wustl.edu	37	11	95825167	95825167	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr11:95825167G>T	ENST00000524717.1	-	2	3312	c.2028C>A	c.(2026-2028)agC>agA	p.S676R		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	676					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)		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)				GCAAAGGCTGGCTTGGTAGAG	0.512			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid																																			Dom	yes		11	11q22-q23	84441	mastermind-like 2 (Drosophila)		E	0													58.0	60.0	60.0					11																	95825167		2196	4296	6492	SO:0001583	missense	84441			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.2028C>A	11.37:g.95825167G>T	ENSP00000434552:p.Ser676Arg		A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Missense_Mutation	SNP	pfam_Neuroggenic_mastermind-like_N	p.S676R	ENST00000524717.1	37	c.2028	CCDS44714.1	11	.	.	.	.	.	.	.	.	.	.	G	7.428	0.638181	0.14386	.	.	ENSG00000184384	ENST00000524717;ENST00000440572	T;T	0.48201	0.82;0.82	5.54	3.66	0.41972	.	0.764818	0.12416	N	0.470872	T	0.32585	0.0834	L	0.40543	1.245	0.31117	N	0.709344	B	0.34015	0.435	B	0.24701	0.055	T	0.24190	-1.0167	10	0.15952	T	0.53	-4.0209	8.9818	0.35970	0.1759:0.0:0.8241:0.0	.	676	Q8IZL2	MAML2_HUMAN	R	676	ENSP00000434552:S676R;ENSP00000412394:S676R	ENSP00000412394:S676R	S	-	3	2	MAML2	95464815	0.303000	0.24463	0.923000	0.36655	0.040000	0.13550	0.371000	0.20450	1.333000	0.45449	0.655000	0.94253	AGC	MAML2	-	NULL		0.512	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAML2	HGNC	protein_coding	OTTHUMT00000395540.1	G			95825167	-1	no_errors	ENST00000440572	ensembl	human	known	70_37	missense	SNP	0.849	T
MAP2K5	5607	genome.wustl.edu	37	15	67838612	67838612	+	Intron	SNP	G	G	T			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr15:67838612G>T	ENST00000178640.5	+	1	762				MAP2K5_ENST00000354498.5_5'Flank|MAP2K5_ENST00000560591.1_Intron|MAP2K5_ENST00000395476.2_Intron	NM_145160.2	NP_660143.1	Q13163	MP2K5_HUMAN	mitogen-activated protein kinase kinase 5						activation of MAPK activity (GO:0000187)|cellular response to growth factor stimulus (GO:0071363)|cellular response to laminar fluid shear stress (GO:0071499)|ERK5 cascade (GO:0070375)|heart development (GO:0007507)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000342)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of response to cytokine stimulus (GO:0060761)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)	cytosol (GO:0005829)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|skin(1)	16						CGTGGAACctggaagaatccc	0.443																																																	0																																										SO:0001627	intron_variant	5607			U25265	CCDS10224.1, CCDS42051.1, CCDS55970.1	15q22.31	2011-06-09			ENSG00000137764	ENSG00000137764		"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6845	protein-coding gene	gene with protein product		602520		PRKMK5		7759517	Standard	NM_002757		Approved	MEK5, MAPKK5, HsT17454	uc002aqu.3	Q13163	OTTHUMG00000133264	ENST00000178640.5:c.135+2804G>T	15.37:g.67838612G>T			B4DE43|Q92961|Q92962	RNA	SNP	-	NULL	ENST00000178640.5	37	NULL	CCDS10224.1	15																																																																																			MAP2K5	-	-		0.443	MAP2K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP2K5	HGNC	protein_coding	OTTHUMT00000257041.1	G	NM_145162		67838612	+1	no_errors	ENST00000560086	ensembl	human	known	70_37	rna	SNP	0.000	T
MATN4	8785	genome.wustl.edu	37	20	43929600	43929600	+	Silent	SNP	C	C	G			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr20:43929600C>G	ENST00000372754.1	-	6	1070	c.1062G>C	c.(1060-1062)gtG>gtC	p.V354V	MATN4_ENST00000372756.1_Silent_p.V313V|MATN4_ENST00000353917.5_Silent_p.V231V|MATN4_ENST00000537548.1_Silent_p.V313V|MATN4_ENST00000342716.4_Silent_p.V313V|MATN4_ENST00000360607.6_Silent_p.V272V|MATN4_ENST00000372751.4_Silent_p.V164V			O95460	MATN4_HUMAN	matrilin 4	354	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|response to axon injury (GO:0048678)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				GGCCCTCGCTCACACACTGGA	0.612											OREG0025977	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													72.0	70.0	71.0					20																	43929600		2203	4300	6503	SO:0001819	synonymous_variant	8785			AJ007581	CCDS13348.1, CCDS46607.1	20q13.1-q13.2	2008-07-07			ENSG00000124159	ENSG00000124159			6910	protein-coding gene	gene with protein product		603897				9827539, 9027493	Standard	NM_003833		Approved		uc002xnn.2	O95460	OTTHUMG00000033043	ENST00000372754.1:c.1062G>C	20.37:g.43929600C>G		920	A6NH94|A6NKN5|Q5QPU2|Q5QPU3|Q5QPU4|Q8N2M5|Q8N2M7|Q9H1F8|Q9H1F9	Silent	SNP	pfam_VWF_A,pfam_EGF-like_Ca-bd,pfam_Matrilin_coiled-coil_trimer,smart_VWF_A,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_VWF_A	p.V354	ENST00000372754.1	37	c.1062		20																																																																																			MATN4	-	smart_EGF-like_Ca-bd,smart_EG-like_dom		0.612	MATN4-002	KNOWN	non_canonical_conserved|non_canonical_U12|not_organism_supported|basic|appris_candidate_longest	protein_coding	MATN4	HGNC	protein_coding	OTTHUMT00000080335.1	C			43929600	-1	no_errors	ENST00000372754	ensembl	human	known	70_37	silent	SNP	1.000	G
MFAP4	4239	genome.wustl.edu	37	17	19288463	19288463	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr17:19288463C>T	ENST00000299610.4	-	5	553	c.469G>A	c.(469-471)Gag>Aag	p.E157K	MFAP4_ENST00000574313.2_5'Flank|MFAP4_ENST00000395592.2_Missense_Mutation_p.E181K|MFAP4_ENST00000497081.2_Missense_Mutation_p.E182K	NM_002404.2	NP_002395.1	P55083	MFAP4_HUMAN	microfibrillar-associated protein 4	157	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)|cellular response to UV-B (GO:0071493)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|regulation of collagen metabolic process (GO:0010712)|UV protection (GO:0009650)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)				large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	10	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					CCATCCTCCTCTGCGCTGACC	0.572																																																	0													153.0	117.0	129.0					17																	19288463		2203	4300	6503	SO:0001583	missense	4239			L38486	CCDS11208.1, CCDS56023.1	17p11.2	2013-02-06			ENSG00000166482	ENSG00000166482		"""Fibrinogen C domain containing"""	7035	protein-coding gene	gene with protein product	"""microfibril-associated glycoprotein 4"""	600596				7633408	Standard	NM_001198695		Approved		uc002gvs.3	P55083	OTTHUMG00000059585	ENST00000299610.4:c.469G>A	17.37:g.19288463C>T	ENSP00000299610:p.Glu157Lys		A8KAJ1|A8MVM2|B4E317|Q6P680	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	p.E181K	ENST00000299610.4	37	c.541	CCDS11208.1	17	.	.	.	.	.	.	.	.	.	.	c	25.6	4.651530	0.88056	.	.	ENSG00000166482	ENST00000395592;ENST00000299610	T;T	0.26518	1.73;1.73	5.0	5.0	0.66597	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.000000	0.64402	D	0.000007	T	0.57007	0.2024	M	0.86420	2.815	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.64504	-0.6392	10	0.87932	D	0	.	15.8955	0.79329	0.0:1.0:0.0:0.0	.	157;181	P55083;A8MVM2	MFAP4_HUMAN;.	K	181;157	ENSP00000378957:E181K;ENSP00000299610:E157K	ENSP00000299610:E157K	E	-	1	0	MFAP4	19229056	1.000000	0.71417	0.804000	0.32291	0.529000	0.34654	7.151000	0.77411	2.611000	0.88343	0.550000	0.68814	GAG	MFAP4	-	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C		0.572	MFAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFAP4	HGNC	protein_coding	OTTHUMT00000132493.2	C	NM_002404		19288463	-1	no_errors	ENST00000395592	ensembl	human	known	70_37	missense	SNP	0.995	T
MFAP4	4239	genome.wustl.edu	37	17	19288463	19288463	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr17:19288463C>T	ENST00000299610.4	-	5	553	c.469G>A	c.(469-471)Gag>Aag	p.E157K	MFAP4_ENST00000574313.2_5'Flank|MFAP4_ENST00000395592.2_Missense_Mutation_p.E181K|MFAP4_ENST00000497081.2_Missense_Mutation_p.E182K	NM_002404.2	NP_002395.1	P55083	MFAP4_HUMAN	microfibrillar-associated protein 4	157	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)|cellular response to UV-B (GO:0071493)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|regulation of collagen metabolic process (GO:0010712)|UV protection (GO:0009650)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)				large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	10	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					CCATCCTCCTCTGCGCTGACC	0.572																																																	0													153.0	117.0	129.0					17																	19288463		2203	4300	6503	SO:0001583	missense	4239			L38486	CCDS11208.1, CCDS56023.1	17p11.2	2013-02-06			ENSG00000166482	ENSG00000166482		"""Fibrinogen C domain containing"""	7035	protein-coding gene	gene with protein product	"""microfibril-associated glycoprotein 4"""	600596				7633408	Standard	NM_001198695		Approved		uc002gvs.3	P55083	OTTHUMG00000059585	ENST00000299610.4:c.469G>A	17.37:g.19288463C>T	ENSP00000299610:p.Glu157Lys		A8KAJ1|A8MVM2|B4E317|Q6P680	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	p.E181K	ENST00000299610.4	37	c.541	CCDS11208.1	17	.	.	.	.	.	.	.	.	.	.	c	25.6	4.651530	0.88056	.	.	ENSG00000166482	ENST00000395592;ENST00000299610	T;T	0.26518	1.73;1.73	5.0	5.0	0.66597	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.000000	0.64402	D	0.000007	T	0.57007	0.2024	M	0.86420	2.815	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.64504	-0.6392	10	0.87932	D	0	.	15.8955	0.79329	0.0:1.0:0.0:0.0	.	157;181	P55083;A8MVM2	MFAP4_HUMAN;.	K	181;157	ENSP00000378957:E181K;ENSP00000299610:E157K	ENSP00000299610:E157K	E	-	1	0	MFAP4	19229056	1.000000	0.71417	0.804000	0.32291	0.529000	0.34654	7.151000	0.77411	2.611000	0.88343	0.550000	0.68814	GAG	MFAP4	-	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C		0.572	MFAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFAP4	HGNC	protein_coding	OTTHUMT00000132493.2	C	NM_002404		19288463	-1	no_errors	ENST00000395592	ensembl	human	known	70_37	missense	SNP	0.995	T
MFGE8	4240	genome.wustl.edu	37	15	89450573	89450573	+	Silent	SNP	G	G	A			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr15:89450573G>A	ENST00000566497.1	-	3	301	c.240C>T	c.(238-240)aaC>aaT	p.N80N	MFGE8_ENST00000542878.1_Silent_p.N36N|MFGE8_ENST00000268151.7_Silent_p.N80N|MFGE8_ENST00000539437.1_Silent_p.N72N|MFGE8_ENST00000559997.1_5'UTR|MFGE8_ENST00000268150.8_Silent_p.N80N			Q08431	MFGM_HUMAN	milk fat globule-EGF factor 8 protein	80	F5/8 type C 1. {ECO:0000255|PROSITE- ProRule:PRU00081}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|phagocytosis, engulfment (GO:0006911)|phagocytosis, recognition (GO:0006910)|positive regulation of apoptotic cell clearance (GO:2000427)|single fertilization (GO:0007338)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|vesicle (GO:0031982)	phosphatidylethanolamine binding (GO:0008429)|phosphatidylserine binding (GO:0001786)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	22	Lung NSC(78;0.0392)|all_lung(78;0.077)					AGTTGGCAATGTTCCCATTCT	0.642																																																	0													120.0	87.0	98.0					15																	89450573		2200	4299	6499	SO:0001819	synonymous_variant	4240			U58516	CCDS10347.1, CCDS45345.1	15q25	2009-03-25			ENSG00000140545	ENSG00000140545			7036	protein-coding gene	gene with protein product	"""sperm surface protein hP47"""	602281	"""sperm associated antigen 10"""	SPAG10		9027496, 19204935	Standard	NM_005928		Approved	SED1, EDIL1, BA46, OAcGD3S, HsT19888, MFG-E8, hP47	uc002bng.4	Q08431	OTTHUMG00000148682	ENST00000566497.1:c.240C>T	15.37:g.89450573G>A			B2R6M7|Q53FU9|Q7Z3D2|Q9BTL9	Silent	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,superfamily_Galactose-bd-like,smart_EG-like_dom,smart_Coagulation_fac_5/8-C_type_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.N80	ENST00000566497.1	37	c.240	CCDS10347.1	15																																																																																			MFGE8	-	superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom		0.642	MFGE8-015	NOVEL	alternative_3_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	MFGE8	HGNC	protein_coding	OTTHUMT00000432804.1	G	NM_005928		89450573	-1	no_errors	ENST00000268150	ensembl	human	known	70_37	silent	SNP	0.922	A
MFGE8	4240	genome.wustl.edu	37	15	89450573	89450573	+	Silent	SNP	G	G	A			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr15:89450573G>A	ENST00000566497.1	-	3	301	c.240C>T	c.(238-240)aaC>aaT	p.N80N	MFGE8_ENST00000542878.1_Silent_p.N36N|MFGE8_ENST00000268151.7_Silent_p.N80N|MFGE8_ENST00000539437.1_Silent_p.N72N|MFGE8_ENST00000559997.1_5'UTR|MFGE8_ENST00000268150.8_Silent_p.N80N			Q08431	MFGM_HUMAN	milk fat globule-EGF factor 8 protein	80	F5/8 type C 1. {ECO:0000255|PROSITE- ProRule:PRU00081}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|phagocytosis, engulfment (GO:0006911)|phagocytosis, recognition (GO:0006910)|positive regulation of apoptotic cell clearance (GO:2000427)|single fertilization (GO:0007338)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|vesicle (GO:0031982)	phosphatidylethanolamine binding (GO:0008429)|phosphatidylserine binding (GO:0001786)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	22	Lung NSC(78;0.0392)|all_lung(78;0.077)					AGTTGGCAATGTTCCCATTCT	0.642																																																	0													120.0	87.0	98.0					15																	89450573		2200	4299	6499	SO:0001819	synonymous_variant	4240			U58516	CCDS10347.1, CCDS45345.1	15q25	2009-03-25			ENSG00000140545	ENSG00000140545			7036	protein-coding gene	gene with protein product	"""sperm surface protein hP47"""	602281	"""sperm associated antigen 10"""	SPAG10		9027496, 19204935	Standard	NM_005928		Approved	SED1, EDIL1, BA46, OAcGD3S, HsT19888, MFG-E8, hP47	uc002bng.4	Q08431	OTTHUMG00000148682	ENST00000566497.1:c.240C>T	15.37:g.89450573G>A			B2R6M7|Q53FU9|Q7Z3D2|Q9BTL9	Silent	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,superfamily_Galactose-bd-like,smart_EG-like_dom,smart_Coagulation_fac_5/8-C_type_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.N80	ENST00000566497.1	37	c.240	CCDS10347.1	15																																																																																			MFGE8	-	superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom		0.642	MFGE8-015	NOVEL	alternative_3_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	MFGE8	HGNC	protein_coding	OTTHUMT00000432804.1	G	NM_005928		89450573	-1	no_errors	ENST00000268150	ensembl	human	known	70_37	silent	SNP	0.922	A
MIR548X2	100616302	genome.wustl.edu	37	13	66540508	66540508	+	RNA	SNP	T	T	G			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr13:66540508T>G	ENST00000579776.1	-	0	53					NR_039692.1				microRNA 548x-2																		tttttaccattacttttaatg	0.363																																																	0																																												100616302					13	2011-09-12				ENSG00000263581		"""ncRNAs / Micro RNAs"""	41734	non-coding RNA	RNA, micro							Standard	NR_039692		Approved	hsa-mir-548x-2					13.37:g.66540508T>G				RNA	SNP	-	NULL	ENST00000579776.1	37	NULL		13																																																																																			MIR548X2	-	-		0.363	MIR548X2-201	KNOWN	basic	miRNA	MIR548X2	HGNC	miRNA		T	NR_039692		66540508	-1	no_errors	ENST00000579776	ensembl	human	known	70_37	rna	SNP	0.889	G
KMT2D	8085	genome.wustl.edu	37	12	49425644	49425644	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr12:49425644G>A	ENST00000301067.7	-	39	12843	c.12844C>T	c.(12844-12846)Cga>Tga	p.R4282*		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	4282	Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										CCCTGAGGTCGAGGCCCTGCC	0.677																																																	0													36.0	40.0	39.0					12																	49425644		1916	4104	6020	SO:0001587	stop_gained	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.12844C>T	12.37:g.49425644G>A	ENSP00000301067:p.Arg4282*		O14687	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.R4282*	ENST00000301067.7	37	c.12844	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	G	53	20.629566	0.99932	.	.	ENSG00000167548	ENST00000301067	.	.	.	4.27	3.36	0.38483	.	0.000000	0.29806	N	0.011150	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	3.7105	0.08418	0.177:0.0:0.6101:0.213	.	.	.	.	X	4282	.	ENSP00000301067:R4282X	R	-	1	2	MLL2	47711911	0.996000	0.38824	1.000000	0.80357	0.986000	0.74619	1.449000	0.35123	1.376000	0.46267	0.655000	0.94253	CGA	MLL2	-	NULL		0.677	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL2	HGNC	protein_coding	OTTHUMT00000390183.2	G			49425644	-1	no_errors	ENST00000301067	ensembl	human	known	70_37	nonsense	SNP	1.000	A
KMT2D	8085	genome.wustl.edu	37	12	49425644	49425644	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr12:49425644G>A	ENST00000301067.7	-	39	12843	c.12844C>T	c.(12844-12846)Cga>Tga	p.R4282*		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	4282	Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										CCCTGAGGTCGAGGCCCTGCC	0.677																																																	0													36.0	40.0	39.0					12																	49425644		1916	4104	6020	SO:0001587	stop_gained	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.12844C>T	12.37:g.49425644G>A	ENSP00000301067:p.Arg4282*		O14687	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.R4282*	ENST00000301067.7	37	c.12844	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	G	53	20.629566	0.99932	.	.	ENSG00000167548	ENST00000301067	.	.	.	4.27	3.36	0.38483	.	0.000000	0.29806	N	0.011150	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	3.7105	0.08418	0.177:0.0:0.6101:0.213	.	.	.	.	X	4282	.	ENSP00000301067:R4282X	R	-	1	2	MLL2	47711911	0.996000	0.38824	1.000000	0.80357	0.986000	0.74619	1.449000	0.35123	1.376000	0.46267	0.655000	0.94253	CGA	MLL2	-	NULL		0.677	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL2	HGNC	protein_coding	OTTHUMT00000390183.2	G			49425644	-1	no_errors	ENST00000301067	ensembl	human	known	70_37	nonsense	SNP	1.000	A
KMT2D	8085	genome.wustl.edu	37	12	49434415	49434415	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr12:49434415G>A	ENST00000301067.7	-	31	7137	c.7138C>T	c.(7138-7140)Cag>Tag	p.Q2380*		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2380	Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.Q2110*(1)|p.Q2380*(1)									AATGGGGGCTGAGCATATGGG	0.652																																																	2	Substitution - Nonsense(2)	urinary_tract(2)											26.0	31.0	29.0					12																	49434415		2037	4179	6216	SO:0001587	stop_gained	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.7138C>T	12.37:g.49434415G>A	ENSP00000301067:p.Gln2380*		O14687	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.Q2380*	ENST00000301067.7	37	c.7138	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	G	46	12.431137	0.99667	.	.	ENSG00000167548	ENST00000301067	.	.	.	5.21	5.21	0.72293	.	0.000000	0.35466	N	0.003185	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.9117	0.88936	0.0:0.0:1.0:0.0	.	.	.	.	X	2380	.	ENSP00000301067:Q2380X	Q	-	1	0	MLL2	47720682	1.000000	0.71417	1.000000	0.80357	0.679000	0.39708	7.607000	0.82883	2.596000	0.87737	0.591000	0.81541	CAG	MLL2	-	NULL		0.652	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL2	HGNC	protein_coding	OTTHUMT00000390183.2	G			49434415	-1	no_errors	ENST00000301067	ensembl	human	known	70_37	nonsense	SNP	1.000	A
KMT2D	8085	genome.wustl.edu	37	12	49434415	49434415	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr12:49434415G>A	ENST00000301067.7	-	31	7137	c.7138C>T	c.(7138-7140)Cag>Tag	p.Q2380*		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2380	Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.Q2110*(1)|p.Q2380*(1)									AATGGGGGCTGAGCATATGGG	0.652																																																	2	Substitution - Nonsense(2)	urinary_tract(2)											26.0	31.0	29.0					12																	49434415		2037	4179	6216	SO:0001587	stop_gained	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.7138C>T	12.37:g.49434415G>A	ENSP00000301067:p.Gln2380*		O14687	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.Q2380*	ENST00000301067.7	37	c.7138	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	G	46	12.431137	0.99667	.	.	ENSG00000167548	ENST00000301067	.	.	.	5.21	5.21	0.72293	.	0.000000	0.35466	N	0.003185	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.9117	0.88936	0.0:0.0:1.0:0.0	.	.	.	.	X	2380	.	ENSP00000301067:Q2380X	Q	-	1	0	MLL2	47720682	1.000000	0.71417	1.000000	0.80357	0.679000	0.39708	7.607000	0.82883	2.596000	0.87737	0.591000	0.81541	CAG	MLL2	-	NULL		0.652	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL2	HGNC	protein_coding	OTTHUMT00000390183.2	G			49434415	-1	no_errors	ENST00000301067	ensembl	human	known	70_37	nonsense	SNP	1.000	A
MNT	4335	genome.wustl.edu	37	17	2290273	2290273	+	Silent	SNP	C	C	A			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr17:2290273C>A	ENST00000174618.4	-	6	2076	c.1671G>T	c.(1669-1671)ctG>ctT	p.L557L	RP1-59D14.1_ENST00000571775.1_RNA|MNT_ENST00000575374.1_5'Flank	NM_020310.2	NP_064706.1	Q99583	MNT_HUMAN	MAX network transcriptional repressor	557					cell aging (GO:0007569)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of cell cycle (GO:0051726)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			endometrium(4)|large_intestine(5)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	12				Colorectal(2;1.37e-05)|READ - Rectum adenocarcinoma(2;8.68e-05)		TCTGGCCCACCAGCTGGGGGT	0.672																																																	0													27.0	24.0	25.0					17																	2290273		2192	4290	6482	SO:0001819	synonymous_variant	4335			Y13444	CCDS11018.1	17p13.3	2013-11-15	2013-11-15		ENSG00000070444	ENSG00000070444		"""MAX dimerization proteins"", ""Basic helix-loop-helix proteins"""	7188	protein-coding gene	gene with protein product	"""myc antagonist"", ""Max-interacting protein"""	603039	"""MAX binding protein"", ""MNT, MAX dimerization protein"""			9598315	Standard	NM_020310		Approved	ROX, MXD6, MAD6, bHLHd3	uc002fur.3	Q99583	OTTHUMG00000090603	ENST00000174618.4:c.1671G>T	17.37:g.2290273C>A			A8K6D1|D3DTI7|Q1ED38	Silent	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.L557	ENST00000174618.4	37	c.1671	CCDS11018.1	17																																																																																			MNT	-	NULL		0.672	MNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MNT	HGNC	protein_coding	OTTHUMT00000207158.1	C	NM_020310		2290273	-1	no_errors	ENST00000174618	ensembl	human	known	70_37	silent	SNP	1.000	A
APEH	327	genome.wustl.edu	37	3	49723542	49723542	+	IGR	SNP	G	G	C	rs2087732		TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr3:49723542G>C	ENST00000296456.5	+	0	3220				MST1_ENST00000383728.3_3'UTR|MST1_ENST00000449682.2_Missense_Mutation_p.A367G|MST1_ENST00000494828.2_5'Flank|AC099668.5_ENST00000563780.1_RNA	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GTAGCAAAAGGCCGCGCGCAT	0.672																																																	0													13.0	16.0	15.0					3																	49723542		2194	4290	6484	SO:0001628	intergenic_variant	4485			D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"""acylaminoacyl-peptidase"""	102645	"""N-acylaminoacyl-peptide hydrolase"""	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49723542G>C			Q9BQ33|Q9P0Y2	Missense_Mutation	SNP	pfam_Kringle,pfam_Peptidase_S1_S6,pfam_PAN-1_domain,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1_S6,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.A367G	ENST00000296456.5	37	c.1100	CCDS2801.1	3	.	.	.	.	.	.	.	.	.	.	G	14.36	2.511278	0.44660	.	.	ENSG00000173531	ENST00000449682	T	0.61980	0.06	5.4	5.4	0.78164	.	0.000000	0.42172	D	0.000758	T	0.49508	0.1561	N	0.14661	0.345	0.80722	D	1	B	0.24368	0.102	B	0.33254	0.16	T	0.42699	-0.9436	10	0.12103	T	0.63	.	18.7813	0.91933	0.0:0.0:1.0:0.0	rs2087732;rs4052587	367	G3XAK1	.	G	367	ENSP00000414287:A367G	ENSP00000414287:A367G	A	-	2	0	MST1	49698546	1.000000	0.71417	0.998000	0.56505	0.965000	0.64279	6.615000	0.74201	2.526000	0.85167	0.655000	0.94253	GCC	MST1	-	pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle		0.672	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MST1	HGNC	protein_coding	OTTHUMT00000346415.2	G			49723542	-1	no_errors	ENST00000449682	ensembl	human	known	70_37	missense	SNP	1.000	C
MTHFD2L	441024	genome.wustl.edu	37	4	75026396	75026397	+	Intron	INS	-	-	A	rs542575782		TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr4:75026396_75026397insA	ENST00000395759.2	+	1	170				MTHFD2L_ENST00000331145.6_Intron|MTHFD2L_ENST00000461101.1_3'UTR|AC093677.1_ENST00000600169.1_5'Flank|MTHFD2L_ENST00000433372.1_Intron|MTHFD2L_ENST00000325278.6_Intron	NM_001144978.1	NP_001138450.1	Q9H903	MTD2L_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like						folic acid-containing compound biosynthetic process (GO:0009396)|histidine biosynthetic process (GO:0000105)|methionine biosynthetic process (GO:0009086)|one-carbon metabolic process (GO:0006730)|purine nucleotide biosynthetic process (GO:0006164)|tetrahydrofolate interconversion (GO:0035999)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NAD+) activity (GO:0004487)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)			central_nervous_system(1)|endometrium(1)|lung(4)|ovary(2)	8			all cancers(17;0.0101)|Lung(101;0.196)			GGTTAAAAATGAAAAAAAAAGT	0.297																																																	0																																										SO:0001627	intron_variant	441024			BC065771	CCDS47075.1	4q13.3	2011-08-03			ENSG00000163738	ENSG00000163738			31865	protein-coding gene	gene with protein product		614047				21163947	Standard	NM_001144978		Approved	MGC72244	uc011cbk.2	Q9H903	OTTHUMG00000157135	ENST00000395759.2:c.143+2398->A	4.37:g.75026405_75026405dupA			Q6P079|Q8N560	RNA	INS	-	NULL	ENST00000395759.2	37	NULL	CCDS47075.1	4																																																																																			MTHFD2L	-	-		0.297	MTHFD2L-202	KNOWN	basic|appris_principal|CCDS	protein_coding	MTHFD2L	HGNC	protein_coding		-	NM_001004346		75026397	+1	no_errors	ENST00000461101	ensembl	human	putative	70_37	rna	INS	0.001:0.000	A
MUC16	94025	genome.wustl.edu	37	19	9065853	9065853	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr19:9065853G>C	ENST00000397910.4	-	3	21796	c.21593C>G	c.(21592-21594)tCt>tGt	p.S7198C		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7200	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGCTAAGGCAGAGGAAGGGGA	0.493																																																	0													217.0	206.0	210.0					19																	9065853		2104	4233	6337	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.21593C>G	19.37:g.9065853G>C	ENSP00000381008:p.Ser7198Cys		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.S7198C	ENST00000397910.4	37	c.21593	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	3.609	-0.079894	0.07141	.	.	ENSG00000181143	ENST00000397910	T	0.34072	1.38	2.47	0.286	0.15710	.	.	.	.	.	T	0.43831	0.1265	L	0.52573	1.65	.	.	.	D	0.65815	0.995	P	0.61940	0.896	T	0.50947	-0.8767	8	0.87932	D	0	.	4.4557	0.11642	0.3408:0.0:0.6592:0.0	.	7198	B5ME49	.	C	7198	ENSP00000381008:S7198C	ENSP00000381008:S7198C	S	-	2	0	MUC16	8926853	0.011000	0.17503	0.000000	0.03702	0.006000	0.05464	1.660000	0.37397	0.142000	0.18901	0.195000	0.17529	TCT	MUC16	-	NULL		0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	G	NM_024690		9065853	-1	no_errors	ENST00000397910	ensembl	human	known	70_37	missense	SNP	0.000	C
MUC16	94025	genome.wustl.edu	37	19	9065853	9065853	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr19:9065853G>C	ENST00000397910.4	-	3	21796	c.21593C>G	c.(21592-21594)tCt>tGt	p.S7198C		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7200	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGCTAAGGCAGAGGAAGGGGA	0.493																																																	0													217.0	206.0	210.0					19																	9065853		2104	4233	6337	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.21593C>G	19.37:g.9065853G>C	ENSP00000381008:p.Ser7198Cys		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.S7198C	ENST00000397910.4	37	c.21593	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	3.609	-0.079894	0.07141	.	.	ENSG00000181143	ENST00000397910	T	0.34072	1.38	2.47	0.286	0.15710	.	.	.	.	.	T	0.43831	0.1265	L	0.52573	1.65	.	.	.	D	0.65815	0.995	P	0.61940	0.896	T	0.50947	-0.8767	8	0.87932	D	0	.	4.4557	0.11642	0.3408:0.0:0.6592:0.0	.	7198	B5ME49	.	C	7198	ENSP00000381008:S7198C	ENSP00000381008:S7198C	S	-	2	0	MUC16	8926853	0.011000	0.17503	0.000000	0.03702	0.006000	0.05464	1.660000	0.37397	0.142000	0.18901	0.195000	0.17529	TCT	MUC16	-	NULL		0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	G	NM_024690		9065853	-1	no_errors	ENST00000397910	ensembl	human	known	70_37	missense	SNP	0.000	C
MUC16	94025	genome.wustl.edu	37	19	9067041	9067041	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr19:9067041G>A	ENST00000397910.4	-	3	20608	c.20405C>T	c.(20404-20406)tCc>tTc	p.S6802F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6804	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAGGGAAGAGGAGAAGCTGGT	0.468																																																	0													144.0	148.0	146.0					19																	9067041		2103	4229	6332	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.20405C>T	19.37:g.9067041G>A	ENSP00000381008:p.Ser6802Phe		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.S6802F	ENST00000397910.4	37	c.20405	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	3.048	-0.195987	0.06259	.	.	ENSG00000181143	ENST00000397910	T	0.25579	1.79	2.28	-3.07	0.05363	.	.	.	.	.	T	0.08802	0.0218	N	0.14661	0.345	.	.	.	P	0.46020	0.871	B	0.30782	0.12	T	0.20306	-1.0279	8	0.87932	D	0	.	2.4261	0.04460	0.3257:0.0:0.3332:0.3411	.	6802	B5ME49	.	F	6802	ENSP00000381008:S6802F	ENSP00000381008:S6802F	S	-	2	0	MUC16	8928041	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.342000	0.07801	-0.523000	0.06409	-0.533000	0.04299	TCC	MUC16	-	NULL		0.468	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	G	NM_024690		9067041	-1	no_errors	ENST00000397910	ensembl	human	known	70_37	missense	SNP	0.000	A
MUC16	94025	genome.wustl.edu	37	19	9067041	9067041	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr19:9067041G>A	ENST00000397910.4	-	3	20608	c.20405C>T	c.(20404-20406)tCc>tTc	p.S6802F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6804	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAGGGAAGAGGAGAAGCTGGT	0.468																																																	0													144.0	148.0	146.0					19																	9067041		2103	4229	6332	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.20405C>T	19.37:g.9067041G>A	ENSP00000381008:p.Ser6802Phe		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.S6802F	ENST00000397910.4	37	c.20405	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	3.048	-0.195987	0.06259	.	.	ENSG00000181143	ENST00000397910	T	0.25579	1.79	2.28	-3.07	0.05363	.	.	.	.	.	T	0.08802	0.0218	N	0.14661	0.345	.	.	.	P	0.46020	0.871	B	0.30782	0.12	T	0.20306	-1.0279	8	0.87932	D	0	.	2.4261	0.04460	0.3257:0.0:0.3332:0.3411	.	6802	B5ME49	.	F	6802	ENSP00000381008:S6802F	ENSP00000381008:S6802F	S	-	2	0	MUC16	8928041	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.342000	0.07801	-0.523000	0.06409	-0.533000	0.04299	TCC	MUC16	-	NULL		0.468	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	G	NM_024690		9067041	-1	no_errors	ENST00000397910	ensembl	human	known	70_37	missense	SNP	0.000	A
MUC16	94025	genome.wustl.edu	37	19	9068288	9068288	+	Silent	SNP	G	G	C			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr19:9068288G>C	ENST00000397910.4	-	3	19361	c.19158C>G	c.(19156-19158)gtC>gtG	p.V6386V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6388	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTTTGTCAAAGACCGTGCTTG	0.463																																																	0													101.0	98.0	99.0					19																	9068288		1991	4158	6149	SO:0001819	synonymous_variant	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.19158C>G	19.37:g.9068288G>C			Q6ZQW5|Q96RK2	Silent	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.V6386	ENST00000397910.4	37	c.19158	CCDS54212.1	19																																																																																			MUC16	-	NULL		0.463	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	G	NM_024690		9068288	-1	no_errors	ENST00000397910	ensembl	human	known	70_37	silent	SNP	0.000	C
MUC16	94025	genome.wustl.edu	37	19	9068288	9068288	+	Silent	SNP	G	G	C			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr19:9068288G>C	ENST00000397910.4	-	3	19361	c.19158C>G	c.(19156-19158)gtC>gtG	p.V6386V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6388	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTTTGTCAAAGACCGTGCTTG	0.463																																																	0													101.0	98.0	99.0					19																	9068288		1991	4158	6149	SO:0001819	synonymous_variant	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.19158C>G	19.37:g.9068288G>C			Q6ZQW5|Q96RK2	Silent	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.V6386	ENST00000397910.4	37	c.19158	CCDS54212.1	19																																																																																			MUC16	-	NULL		0.463	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	G	NM_024690		9068288	-1	no_errors	ENST00000397910	ensembl	human	known	70_37	silent	SNP	0.000	C
MUC4	4585	genome.wustl.edu	37	3	195508149	195508149	+	Silent	SNP	G	G	A			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr3:195508149G>A	ENST00000463781.3	-	2	10761	c.10302C>T	c.(10300-10302)tcC>tcT	p.S3434S	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Silent_p.S3434S|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CGTGACCGGTGGATGCTGAGG	0.582																																																	0													30.0	23.0	25.0					3																	195508149		685	1582	2267	SO:0001819	synonymous_variant	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.10302C>T	3.37:g.195508149G>A			O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom	p.S3434	ENST00000463781.3	37	c.10302	CCDS54700.1	3																																																																																			MUC4	-	NULL		0.582	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	G	NM_018406		195508149	-1	no_errors	ENST00000463781	ensembl	human	known	70_37	silent	SNP	0.008	A
NDP	4693	genome.wustl.edu	37	X	43820066	43820066	+	Intron	SNP	G	G	A			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chrX:43820066G>A	ENST00000378062.5	-	2	201				NDP-AS1_ENST00000435093.1_RNA|NDP_ENST00000470584.1_Intron	NM_000266.3	NP_000257.1	Q00604	NDP_HUMAN	Norrie disease (pseudoglioma)						canonical Wnt signaling pathway (GO:0060070)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|extracellular matrix-cell signaling (GO:0035426)|nervous system development (GO:0007399)|placenta development (GO:0001890)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|vacuole organization (GO:0007033)|visual perception (GO:0007601)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)	frizzled binding (GO:0005109)|growth factor activity (GO:0008083)|protein homodimerization activity (GO:0042803)			kidney(1)|lung(2)	3						AAAGGATGAAGAGAGAAGCAG	0.443																																																	0																																										SO:0001627	intron_variant	100873919			X65882	CCDS14262.1	Xp11.4-p11.3	2013-02-26			ENSG00000124479	ENSG00000124479		"""Endogenous ligands"""	7678	protein-coding gene	gene with protein product		300658	"""exudative vitreoretinopathy 2 (X-linked)"""	EVR2		8252044	Standard	NM_000266		Approved	norrin	uc004dga.3	Q00604	OTTHUMG00000021391	ENST00000378062.5:c.207-1968C>T	X.37:g.43820066G>A			B2R8K6|Q5JYH5	RNA	SNP	-	NULL	ENST00000378062.5	37	NULL	CCDS14262.1	X																																																																																			NDP-AS1	-	-		0.443	NDP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDP-AS1	HGNC	protein_coding	OTTHUMT00000056309.1	G	NM_000266		43820066	+1	no_errors	ENST00000435093	ensembl	human	known	70_37	rna	SNP	0.000	A
NEO1	4756	genome.wustl.edu	37	15	73552728	73552728	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr15:73552728G>T	ENST00000339362.5	+	16	2767	c.2320G>T	c.(2320-2322)Ggt>Tgt	p.G774C	NEO1_ENST00000560262.1_Missense_Mutation_p.G774C|NEO1_ENST00000261908.6_Missense_Mutation_p.G774C|NEO1_ENST00000558964.1_Missense_Mutation_p.G774C			Q92859	NEO1_HUMAN	neogenin 1	774	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|iron ion homeostasis (GO:0055072)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						TTACGCCATTGGTTATGGCAT	0.478																																																	0													121.0	102.0	108.0					15																	73552728		2198	4297	6495	SO:0001583	missense	4756			U61262	CCDS10247.1, CCDS53957.1, CCDS58378.1	15q22.3-q23	2014-06-20	2010-06-24		ENSG00000067141	ENSG00000067141		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7754	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 2"""	601907	"""neogenin (chicken) homolog 1"""			9121761	Standard	NM_002499		Approved	NGN, HsT17534, IGDCC2, NTN1R2	uc002avm.4	Q92859	OTTHUMG00000133509	ENST00000339362.5:c.2320G>T	15.37:g.73552728G>T	ENSP00000341198:p.Gly774Cys		B7ZKM9|B7ZKN0|O00340|Q17RX1	Missense_Mutation	SNP	pfam_Neogenin_C,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	p.G774C	ENST00000339362.5	37	c.2320	CCDS10247.1	15	.	.	.	.	.	.	.	.	.	.	G	23.5	4.419624	0.83559	.	.	ENSG00000067141	ENST00000339362;ENST00000379842;ENST00000261908	T;T	0.56941	0.43;0.43	5.2	5.2	0.72013	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.091678	0.85682	D	0.000000	T	0.79287	0.4420	M	0.92026	3.265	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.82678	-0.0338	10	0.51188	T	0.08	-18.8047	19.1117	0.93318	0.0:0.0:1.0:0.0	.	774;774;512;774	B7ZKM9;B7ZKN0;E7EUX3;Q92859	.;.;.;NEO1_HUMAN	C	774;512;774	ENSP00000341198:G774C;ENSP00000261908:G774C	ENSP00000261908:G774C	G	+	1	0	NEO1	71339781	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.688000	0.74557	2.593000	0.87608	0.655000	0.94253	GGT	NEO1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.478	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEO1	HGNC	protein_coding	OTTHUMT00000257472.2	G	NM_002499		73552728	+1	no_errors	ENST00000261908	ensembl	human	known	70_37	missense	SNP	1.000	T
NLRP6	171389	genome.wustl.edu	37	11	281810	281810	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr11:281810G>T	ENST00000312165.5	+	4	2076	c.2076G>T	c.(2074-2076)aaG>aaT	p.K692N	NLRP6_ENST00000534750.1_Missense_Mutation_p.K692N	NM_138329.1	NP_612202.2	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	692					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|regulation of inflammatory response (GO:0050727)|response to bacterium (GO:0009617)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|vasopressin receptor activity (GO:0005000)			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		GCCTGGGGAAGCGGCTCCAGG	0.617																																																	0													27.0	35.0	32.0					11																	281810		2200	4296	6496	SO:0001583	missense	171389			AF479748	CCDS7693.1, CCDS60680.1	11p15	2006-12-08	2006-12-08	2006-12-08	ENSG00000174885	ENSG00000174885		"""Nucleotide-binding domain and leucine rich repeat containing"""	22944	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 6"""	609650	"""NACHT, leucine rich repeat and PYD containing 6"""	NALP6		12563287, 12019269	Standard	NM_138329		Approved	PYPAF5, PAN3, CLR11.4	uc010qvs.3	P59044	OTTHUMG00000119070	ENST00000312165.5:c.2076G>T	11.37:g.281810G>T	ENSP00000309767:p.Lys692Asn		A8K9F3|E9PJZ8	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.K692N	ENST00000312165.5	37	c.2076	CCDS7693.1	11	.	.	.	.	.	.	.	.	.	.	G	4.236	0.042658	0.08196	.	.	ENSG00000174885	ENST00000534750;ENST00000312165	T;T	0.75367	-0.93;-0.87	3.22	-1.35	0.09114	.	10.086300	0.00357	U	0.000035	T	0.66982	0.2845	L	0.55990	1.75	0.09310	N	1	B;B	0.14012	0.006;0.009	B;B	0.12156	0.003;0.007	T	0.31336	-0.9947	10	0.27082	T	0.32	.	4.1867	0.10402	0.2366:0.371:0.3924:0.0	.	692;692	E9PJZ8;P59044	.;NALP6_HUMAN	N	692	ENSP00000433617:K692N;ENSP00000309767:K692N	ENSP00000309767:K692N	K	+	3	2	NLRP6	271810	0.003000	0.15002	0.004000	0.12327	0.762000	0.43233	1.003000	0.29809	-0.247000	0.09597	0.462000	0.41574	AAG	NLRP6	-	NULL		0.617	NLRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP6	HGNC	protein_coding	OTTHUMT00000239283.1	G	NM_138329		281810	+1	no_errors	ENST00000312165	ensembl	human	known	70_37	missense	SNP	0.108	T
NPAP1	23742	genome.wustl.edu	37	15	24923096	24923096	+	Silent	SNP	C	C	A	rs372332991		TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr15:24923096C>A	ENST00000329468.2	+	1	2556	c.2082C>A	c.(2080-2082)ccC>ccA	p.P694P		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	694					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											CCAAACCTCCCATTGAAACCA	0.507																																																	0													200.0	180.0	187.0					15																	24923096		2203	4300	6503	SO:0001819	synonymous_variant	23742			AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.2082C>A	15.37:g.24923096C>A				Silent	SNP	NULL	p.P694	ENST00000329468.2	37	c.2082	CCDS10015.1	15																																																																																			NPAP1	-	NULL		0.507	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPAP1	HGNC	protein_coding	OTTHUMT00000251253.1	C	NM_018958		24923096	+1	no_errors	ENST00000329468	ensembl	human	known	70_37	silent	SNP	0.000	A
NPAP1	23742	genome.wustl.edu	37	15	24923096	24923096	+	Silent	SNP	C	C	A	rs372332991		TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr15:24923096C>A	ENST00000329468.2	+	1	2556	c.2082C>A	c.(2080-2082)ccC>ccA	p.P694P		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	694					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											CCAAACCTCCCATTGAAACCA	0.507																																																	0													200.0	180.0	187.0					15																	24923096		2203	4300	6503	SO:0001819	synonymous_variant	23742			AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.2082C>A	15.37:g.24923096C>A				Silent	SNP	NULL	p.P694	ENST00000329468.2	37	c.2082	CCDS10015.1	15																																																																																			NPAP1	-	NULL		0.507	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPAP1	HGNC	protein_coding	OTTHUMT00000251253.1	C	NM_018958		24923096	+1	no_errors	ENST00000329468	ensembl	human	known	70_37	silent	SNP	0.000	A
NUPL1	9818	genome.wustl.edu	37	13	25889520	25889520	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr13:25889520G>C	ENST00000381736.3	+	6	850	c.600G>C	c.(598-600)ttG>ttC	p.L200F	NUPL1_ENST00000466694.1_3'UTR|NUPL1_ENST00000463407.1_Missense_Mutation_p.L200F|NUPL1_ENST00000381718.3_Missense_Mutation_p.L188F	NM_001008564.1|NM_014089.3	NP_001008564.1|NP_054808.1	Q9BVL2	NUPL1_HUMAN	nucleoporin like 1	200	14 X 2 AA repeats of F-G.				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)	nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	nucleocytoplasmic transporter activity (GO:0005487)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1)	16		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)		CTTTAGGGTTGACTTTGGGAA	0.373																																					Pancreas(166;1040 2004 4560 4728 37041)|GBM(109;1045 1520 7614 9308 19618)												0													283.0	305.0	298.0					13																	25889520		2203	4300	6503	SO:0001583	missense	9818			AB007870	CCDS9314.1, CCDS31949.1	13q12.12	2011-04-12			ENSG00000139496	ENSG00000139496			20261	protein-coding gene	gene with protein product		607615				9455477	Standard	NM_014089		Approved	KIAA0410	uc001uqi.3	Q9BVL2	OTTHUMG00000016608	ENST00000381736.3:c.600G>C	13.37:g.25889520G>C	ENSP00000371155:p.Leu200Phe		A6NI12|B4DZJ1|O43160|Q5JRG2|Q5JRG5	Missense_Mutation	SNP	NULL	p.L200F	ENST00000381736.3	37	c.600	CCDS9314.1	13	.	.	.	.	.	.	.	.	.	.	G	19.02	3.746239	0.69418	.	.	ENSG00000139496	ENST00000381736;ENST00000381745;ENST00000313619;ENST00000463407;ENST00000381718;ENST00000381747;ENST00000394327	T;T;T;T;T	0.54479	1.16;1.18;1.12;1.18;0.57	4.97	4.1	0.47936	.	0.000000	0.85682	D	0.000000	T	0.67505	0.2900	M	0.63428	1.95	0.58432	D	0.999996	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.83275	0.996;0.996;0.996	T	0.69098	-0.5235	10	0.56958	D	0.05	-6.7145	12.5321	0.56122	0.0828:0.0:0.9172:0.0	.	188;200;200	A6NI12;Q9BVL2;Q9BVL2-2	.;NUPL1_HUMAN;.	F	200;188;177;200;188;200;147	ENSP00000371155:L200F;ENSP00000418555:L200F;ENSP00000371137:L188F;ENSP00000371166:L200F;ENSP00000408147:L147F	ENSP00000318459:L177F	L	+	3	2	NUPL1	24787520	1.000000	0.71417	0.997000	0.53966	0.979000	0.70002	1.320000	0.33666	2.452000	0.82932	0.557000	0.71058	TTG	NUPL1	-	NULL		0.373	NUPL1-001	KNOWN	basic|CCDS	protein_coding	NUPL1	HGNC	protein_coding	OTTHUMT00000044228.2	G			25889520	+1	no_errors	ENST00000381736	ensembl	human	known	70_37	missense	SNP	1.000	C
NUPL1	9818	genome.wustl.edu	37	13	25889520	25889520	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr13:25889520G>C	ENST00000381736.3	+	6	850	c.600G>C	c.(598-600)ttG>ttC	p.L200F	NUPL1_ENST00000466694.1_3'UTR|NUPL1_ENST00000463407.1_Missense_Mutation_p.L200F|NUPL1_ENST00000381718.3_Missense_Mutation_p.L188F	NM_001008564.1|NM_014089.3	NP_001008564.1|NP_054808.1	Q9BVL2	NUPL1_HUMAN	nucleoporin like 1	200	14 X 2 AA repeats of F-G.				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)	nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	nucleocytoplasmic transporter activity (GO:0005487)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1)	16		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)		CTTTAGGGTTGACTTTGGGAA	0.373																																					Pancreas(166;1040 2004 4560 4728 37041)|GBM(109;1045 1520 7614 9308 19618)												0													283.0	305.0	298.0					13																	25889520		2203	4300	6503	SO:0001583	missense	9818			AB007870	CCDS9314.1, CCDS31949.1	13q12.12	2011-04-12			ENSG00000139496	ENSG00000139496			20261	protein-coding gene	gene with protein product		607615				9455477	Standard	NM_014089		Approved	KIAA0410	uc001uqi.3	Q9BVL2	OTTHUMG00000016608	ENST00000381736.3:c.600G>C	13.37:g.25889520G>C	ENSP00000371155:p.Leu200Phe		A6NI12|B4DZJ1|O43160|Q5JRG2|Q5JRG5	Missense_Mutation	SNP	NULL	p.L200F	ENST00000381736.3	37	c.600	CCDS9314.1	13	.	.	.	.	.	.	.	.	.	.	G	19.02	3.746239	0.69418	.	.	ENSG00000139496	ENST00000381736;ENST00000381745;ENST00000313619;ENST00000463407;ENST00000381718;ENST00000381747;ENST00000394327	T;T;T;T;T	0.54479	1.16;1.18;1.12;1.18;0.57	4.97	4.1	0.47936	.	0.000000	0.85682	D	0.000000	T	0.67505	0.2900	M	0.63428	1.95	0.58432	D	0.999996	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.83275	0.996;0.996;0.996	T	0.69098	-0.5235	10	0.56958	D	0.05	-6.7145	12.5321	0.56122	0.0828:0.0:0.9172:0.0	.	188;200;200	A6NI12;Q9BVL2;Q9BVL2-2	.;NUPL1_HUMAN;.	F	200;188;177;200;188;200;147	ENSP00000371155:L200F;ENSP00000418555:L200F;ENSP00000371137:L188F;ENSP00000371166:L200F;ENSP00000408147:L147F	ENSP00000318459:L177F	L	+	3	2	NUPL1	24787520	1.000000	0.71417	0.997000	0.53966	0.979000	0.70002	1.320000	0.33666	2.452000	0.82932	0.557000	0.71058	TTG	NUPL1	-	NULL		0.373	NUPL1-001	KNOWN	basic|CCDS	protein_coding	NUPL1	HGNC	protein_coding	OTTHUMT00000044228.2	G			25889520	+1	no_errors	ENST00000381736	ensembl	human	known	70_37	missense	SNP	1.000	C
OAS2	4939	genome.wustl.edu	37	12	113442868	113442868	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr12:113442868G>A	ENST00000342315.4	+	7	1523	c.1309G>A	c.(1309-1311)Gaa>Aaa	p.E437K	RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000392583.2_Missense_Mutation_p.E437K	NM_016817.2	NP_058197.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	437	OAS domain 2.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|nucleobase-containing compound metabolic process (GO:0006139)|protein glycosylation (GO:0006486)|protein myristoylation (GO:0018377)|purine nucleotide biosynthetic process (GO:0006164)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GGAAATCCATGAACAGCTGAA	0.502																																					Pancreas(199;709 2232 18410 33584 35052)												0													79.0	73.0	75.0					12																	113442868		2203	4300	6503	SO:0001583	missense	4939			M87284	CCDS31906.1, CCDS41839.1, CCDS44982.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111335			8087	protein-coding gene	gene with protein product		603350	"""2'-5'-oligoadenylate synthetase 2 (69-71 kD)"""			9790745	Standard	NM_002535		Approved		uc001tuj.3	P29728	OTTHUMG00000169802	ENST00000342315.4:c.1309G>A	12.37:g.113442868G>A	ENSP00000342278:p.Glu437Lys		A8K9T1|Q6PJ33|Q86XX8	Missense_Mutation	SNP	pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N	p.E437K	ENST00000342315.4	37	c.1309	CCDS31906.1	12	.	.	.	.	.	.	.	.	.	.	.	0.065	-1.214641	0.01555	.	.	ENSG00000111335	ENST00000342315;ENST00000392583	T;T	0.06371	3.31;3.31	4.11	-8.22	0.01037	2-5-oligoadenylate synthetase, N-terminal (1);Nucleotidyl transferase domain (1);	2.344920	0.02196	N	0.061852	T	0.01421	0.0046	N	0.00347	-1.61	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.11329	0.006;0.002	T	0.35051	-0.9804	10	0.02654	T	1	-1.1678	9.6983	0.40171	0.1783:0.3386:0.4831:0.0	.	437;437	P29728;P29728-2	OAS2_HUMAN;.	K	437	ENSP00000342278:E437K;ENSP00000376362:E437K	ENSP00000342278:E437K	E	+	1	0	OAS2	111927251	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.501000	0.02281	-3.016000	0.00271	-1.650000	0.00758	GAA	OAS2	-	pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N		0.502	OAS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OAS2	HGNC	protein_coding	OTTHUMT00000405937.1	G			113442868	+1	no_errors	ENST00000342315	ensembl	human	known	70_37	missense	SNP	0.000	A
OAS2	4939	genome.wustl.edu	37	12	113442868	113442868	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr12:113442868G>A	ENST00000342315.4	+	7	1523	c.1309G>A	c.(1309-1311)Gaa>Aaa	p.E437K	RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000392583.2_Missense_Mutation_p.E437K	NM_016817.2	NP_058197.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	437	OAS domain 2.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|nucleobase-containing compound metabolic process (GO:0006139)|protein glycosylation (GO:0006486)|protein myristoylation (GO:0018377)|purine nucleotide biosynthetic process (GO:0006164)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GGAAATCCATGAACAGCTGAA	0.502																																					Pancreas(199;709 2232 18410 33584 35052)												0													79.0	73.0	75.0					12																	113442868		2203	4300	6503	SO:0001583	missense	4939			M87284	CCDS31906.1, CCDS41839.1, CCDS44982.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111335			8087	protein-coding gene	gene with protein product		603350	"""2'-5'-oligoadenylate synthetase 2 (69-71 kD)"""			9790745	Standard	NM_002535		Approved		uc001tuj.3	P29728	OTTHUMG00000169802	ENST00000342315.4:c.1309G>A	12.37:g.113442868G>A	ENSP00000342278:p.Glu437Lys		A8K9T1|Q6PJ33|Q86XX8	Missense_Mutation	SNP	pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N	p.E437K	ENST00000342315.4	37	c.1309	CCDS31906.1	12	.	.	.	.	.	.	.	.	.	.	.	0.065	-1.214641	0.01555	.	.	ENSG00000111335	ENST00000342315;ENST00000392583	T;T	0.06371	3.31;3.31	4.11	-8.22	0.01037	2-5-oligoadenylate synthetase, N-terminal (1);Nucleotidyl transferase domain (1);	2.344920	0.02196	N	0.061852	T	0.01421	0.0046	N	0.00347	-1.61	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.11329	0.006;0.002	T	0.35051	-0.9804	10	0.02654	T	1	-1.1678	9.6983	0.40171	0.1783:0.3386:0.4831:0.0	.	437;437	P29728;P29728-2	OAS2_HUMAN;.	K	437	ENSP00000342278:E437K;ENSP00000376362:E437K	ENSP00000342278:E437K	E	+	1	0	OAS2	111927251	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.501000	0.02281	-3.016000	0.00271	-1.650000	0.00758	GAA	OAS2	-	pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N		0.502	OAS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OAS2	HGNC	protein_coding	OTTHUMT00000405937.1	G			113442868	+1	no_errors	ENST00000342315	ensembl	human	known	70_37	missense	SNP	0.000	A
OAS2	4939	genome.wustl.edu	37	12	113442910	113442910	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr12:113442910G>C	ENST00000342315.4	+	7	1565	c.1351G>C	c.(1351-1353)Gaa>Caa	p.E451Q	RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000392583.2_Missense_Mutation_p.E451Q	NM_016817.2	NP_058197.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	451	OAS domain 2.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|nucleobase-containing compound metabolic process (GO:0006139)|protein glycosylation (GO:0006486)|protein myristoylation (GO:0018377)|purine nucleotide biosynthetic process (GO:0006164)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GGAGGAGCTTGAAGTCAGCTT	0.488																																					Pancreas(199;709 2232 18410 33584 35052)												0													77.0	69.0	72.0					12																	113442910		2203	4300	6503	SO:0001583	missense	4939			M87284	CCDS31906.1, CCDS41839.1, CCDS44982.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111335			8087	protein-coding gene	gene with protein product		603350	"""2'-5'-oligoadenylate synthetase 2 (69-71 kD)"""			9790745	Standard	NM_002535		Approved		uc001tuj.3	P29728	OTTHUMG00000169802	ENST00000342315.4:c.1351G>C	12.37:g.113442910G>C	ENSP00000342278:p.Glu451Gln		A8K9T1|Q6PJ33|Q86XX8	Missense_Mutation	SNP	pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N	p.E451Q	ENST00000342315.4	37	c.1351	CCDS31906.1	12	.	.	.	.	.	.	.	.	.	.	.	14.94	2.686666	0.47991	.	.	ENSG00000111335	ENST00000342315;ENST00000392583	T;T	0.08102	3.13;3.13	4.43	3.53	0.40419	.	1.034970	0.07766	U	0.950875	T	0.18467	0.0443	L	0.61387	1.9	0.19945	N	0.999948	D;D	0.54772	0.968;0.96	P;P	0.52909	0.713;0.643	T	0.14117	-1.0484	10	0.52906	T	0.07	-9.072	8.7192	0.34430	0.1062:0.0:0.8938:0.0	.	451;451	P29728;P29728-2	OAS2_HUMAN;.	Q	451	ENSP00000342278:E451Q;ENSP00000376362:E451Q	ENSP00000342278:E451Q	E	+	1	0	OAS2	111927293	0.017000	0.18338	0.002000	0.10522	0.013000	0.08279	0.838000	0.27572	1.209000	0.43321	0.655000	0.94253	GAA	OAS2	-	NULL		0.488	OAS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OAS2	HGNC	protein_coding	OTTHUMT00000405937.1	G			113442910	+1	no_errors	ENST00000342315	ensembl	human	known	70_37	missense	SNP	0.001	C
OAS2	4939	genome.wustl.edu	37	12	113442910	113442910	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr12:113442910G>C	ENST00000342315.4	+	7	1565	c.1351G>C	c.(1351-1353)Gaa>Caa	p.E451Q	RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000392583.2_Missense_Mutation_p.E451Q	NM_016817.2	NP_058197.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	451	OAS domain 2.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|nucleobase-containing compound metabolic process (GO:0006139)|protein glycosylation (GO:0006486)|protein myristoylation (GO:0018377)|purine nucleotide biosynthetic process (GO:0006164)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GGAGGAGCTTGAAGTCAGCTT	0.488																																					Pancreas(199;709 2232 18410 33584 35052)												0													77.0	69.0	72.0					12																	113442910		2203	4300	6503	SO:0001583	missense	4939			M87284	CCDS31906.1, CCDS41839.1, CCDS44982.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111335			8087	protein-coding gene	gene with protein product		603350	"""2'-5'-oligoadenylate synthetase 2 (69-71 kD)"""			9790745	Standard	NM_002535		Approved		uc001tuj.3	P29728	OTTHUMG00000169802	ENST00000342315.4:c.1351G>C	12.37:g.113442910G>C	ENSP00000342278:p.Glu451Gln		A8K9T1|Q6PJ33|Q86XX8	Missense_Mutation	SNP	pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N	p.E451Q	ENST00000342315.4	37	c.1351	CCDS31906.1	12	.	.	.	.	.	.	.	.	.	.	.	14.94	2.686666	0.47991	.	.	ENSG00000111335	ENST00000342315;ENST00000392583	T;T	0.08102	3.13;3.13	4.43	3.53	0.40419	.	1.034970	0.07766	U	0.950875	T	0.18467	0.0443	L	0.61387	1.9	0.19945	N	0.999948	D;D	0.54772	0.968;0.96	P;P	0.52909	0.713;0.643	T	0.14117	-1.0484	10	0.52906	T	0.07	-9.072	8.7192	0.34430	0.1062:0.0:0.8938:0.0	.	451;451	P29728;P29728-2	OAS2_HUMAN;.	Q	451	ENSP00000342278:E451Q;ENSP00000376362:E451Q	ENSP00000342278:E451Q	E	+	1	0	OAS2	111927293	0.017000	0.18338	0.002000	0.10522	0.013000	0.08279	0.838000	0.27572	1.209000	0.43321	0.655000	0.94253	GAA	OAS2	-	NULL		0.488	OAS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OAS2	HGNC	protein_coding	OTTHUMT00000405937.1	G			113442910	+1	no_errors	ENST00000342315	ensembl	human	known	70_37	missense	SNP	0.001	C
OR4K14	122740	genome.wustl.edu	37	14	20482425	20482425	+	Nonsense_Mutation	SNP	G	G	A	rs149149480	byFrequency	TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr14:20482425G>A	ENST00000305045.2	-	1	927	c.928C>T	c.(928-930)Caa>Taa	p.Q310*		NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K, member 14	310						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		GGATTTCATTGAAAAGTCACC	0.358																																																	0													95.0	100.0	99.0					14																	20482425		2203	4300	6503	SO:0001587	stop_gained	122740				CCDS32027.1	14q11.2	2013-09-23			ENSG00000169484	ENSG00000169484		"""GPCR / Class A : Olfactory receptors"""	15352	protein-coding gene	gene with protein product							Standard	NM_001004712		Approved		uc010tky.2	Q8NGD5	OTTHUMG00000170780	ENST00000305045.2:c.928C>T	14.37:g.20482425G>A	ENSP00000305011:p.Gln310*		Q6IEU1|Q96R71	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.Q310*	ENST00000305045.2	37	c.928	CCDS32027.1	14	.	.	.	.	.	.	.	.	.	.	.	11.72	1.722927	0.30503	.	.	ENSG00000169484	ENST00000305045	.	.	.	3.83	3.83	0.44106	.	1.854210	0.03337	U	0.194260	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	6.7521	0.23493	0.0:0.1936:0.6071:0.1993	.	.	.	.	X	310	.	ENSP00000305011:Q310X	Q	-	1	0	OR4K14	19552265	0.028000	0.19301	0.849000	0.33467	0.040000	0.13550	0.679000	0.25291	1.975000	0.57531	0.505000	0.49811	CAA	OR4K14	-	NULL		0.358	OR4K14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4K14	HGNC	protein_coding	OTTHUMT00000410343.1	G			20482425	-1	no_errors	ENST00000305045	ensembl	human	known	70_37	nonsense	SNP	0.068	A
OR4K14	122740	genome.wustl.edu	37	14	20482425	20482425	+	Nonsense_Mutation	SNP	G	G	A	rs149149480	byFrequency	TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr14:20482425G>A	ENST00000305045.2	-	1	927	c.928C>T	c.(928-930)Caa>Taa	p.Q310*		NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K, member 14	310						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		GGATTTCATTGAAAAGTCACC	0.358																																																	0													95.0	100.0	99.0					14																	20482425		2203	4300	6503	SO:0001587	stop_gained	122740				CCDS32027.1	14q11.2	2013-09-23			ENSG00000169484	ENSG00000169484		"""GPCR / Class A : Olfactory receptors"""	15352	protein-coding gene	gene with protein product							Standard	NM_001004712		Approved		uc010tky.2	Q8NGD5	OTTHUMG00000170780	ENST00000305045.2:c.928C>T	14.37:g.20482425G>A	ENSP00000305011:p.Gln310*		Q6IEU1|Q96R71	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.Q310*	ENST00000305045.2	37	c.928	CCDS32027.1	14	.	.	.	.	.	.	.	.	.	.	.	11.72	1.722927	0.30503	.	.	ENSG00000169484	ENST00000305045	.	.	.	3.83	3.83	0.44106	.	1.854210	0.03337	U	0.194260	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	6.7521	0.23493	0.0:0.1936:0.6071:0.1993	.	.	.	.	X	310	.	ENSP00000305011:Q310X	Q	-	1	0	OR4K14	19552265	0.028000	0.19301	0.849000	0.33467	0.040000	0.13550	0.679000	0.25291	1.975000	0.57531	0.505000	0.49811	CAA	OR4K14	-	NULL		0.358	OR4K14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4K14	HGNC	protein_coding	OTTHUMT00000410343.1	G			20482425	-1	no_errors	ENST00000305045	ensembl	human	known	70_37	nonsense	SNP	0.068	A
OR8J3	81168	genome.wustl.edu	37	11	55904865	55904865	+	Silent	SNP	C	C	T	rs533143740		TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr11:55904865C>T	ENST00000301529.1	-	1	329	c.330G>A	c.(328-330)tcG>tcA	p.S110S		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	110						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					TCATTACCTCCGATACAATAA	0.478																																																	0													151.0	139.0	143.0					11																	55904865		2201	4296	6497	SO:0001819	synonymous_variant	81168				CCDS31520.1	11q12.2	2012-08-09			ENSG00000167822	ENSG00000167822		"""GPCR / Class A : Olfactory receptors"""	15312	protein-coding gene	gene with protein product							Standard	NM_001004064		Approved		uc010riz.2	Q8NGG0	OTTHUMG00000166834	ENST00000301529.1:c.330G>A	11.37:g.55904865C>T			Q6IFB6|Q96RC2	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S110	ENST00000301529.1	37	c.330	CCDS31520.1	11																																																																																			OR8J3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.478	OR8J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8J3	HGNC	protein_coding	OTTHUMT00000391542.1	C	NM_001004064		55904865	-1	no_errors	ENST00000301529	ensembl	human	known	70_37	silent	SNP	0.002	T
OR8J3	81168	genome.wustl.edu	37	11	55904865	55904865	+	Silent	SNP	C	C	T	rs533143740		TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr11:55904865C>T	ENST00000301529.1	-	1	329	c.330G>A	c.(328-330)tcG>tcA	p.S110S		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	110						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					TCATTACCTCCGATACAATAA	0.478																																																	0													151.0	139.0	143.0					11																	55904865		2201	4296	6497	SO:0001819	synonymous_variant	81168				CCDS31520.1	11q12.2	2012-08-09			ENSG00000167822	ENSG00000167822		"""GPCR / Class A : Olfactory receptors"""	15312	protein-coding gene	gene with protein product							Standard	NM_001004064		Approved		uc010riz.2	Q8NGG0	OTTHUMG00000166834	ENST00000301529.1:c.330G>A	11.37:g.55904865C>T			Q6IFB6|Q96RC2	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S110	ENST00000301529.1	37	c.330	CCDS31520.1	11																																																																																			OR8J3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.478	OR8J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8J3	HGNC	protein_coding	OTTHUMT00000391542.1	C	NM_001004064		55904865	-1	no_errors	ENST00000301529	ensembl	human	known	70_37	silent	SNP	0.002	T
PABPC1L	80336	genome.wustl.edu	37	20	43550254	43550254	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr20:43550254G>T	ENST00000217073.2	+	6	758	c.758G>T	c.(757-759)gGg>gTg	p.G253V	PABPC1L_ENST00000217074.4_Missense_Mutation_p.G253V|PABPC1L_ENST00000490798.1_3'UTR|PABPC1L_ENST00000537323.1_Missense_Mutation_p.G253V|PABPC1L_ENST00000255136.3_Missense_Mutation_p.G253V			Q4VXU2	PAP1L_HUMAN	poly(A) binding protein, cytoplasmic 1-like	253	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA polyadenylation (GO:0006378)|oocyte maturation (GO:0001556)	extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						CATATGAACGGGAAGGAGGTG	0.612																																																	0													103.0	105.0	104.0					20																	43550254		1568	3582	5150	SO:0001583	missense	80336			AK026760	CCDS42878.1	20q12-q13.1	2013-02-12	2007-11-21	2007-11-21	ENSG00000101104	ENSG00000101104		"""RNA binding motif (RRM) containing"""	15797	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 119"""	C20orf119		11549316	Standard	NM_001124756		Approved	dJ1069P2.3, PABPC1L1, ePAB	uc010ggv.1	Q4VXU2	OTTHUMG00000032553	ENST00000217073.2:c.758G>T	20.37:g.43550254G>T	ENSP00000217073:p.Gly253Val		Q4VY17	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.G253V	ENST00000217073.2	37	c.758	CCDS42878.1	20	.	.	.	.	.	.	.	.	.	.	G	18.07	3.541631	0.65085	.	.	ENSG00000101104	ENST00000217074;ENST00000255136;ENST00000537323;ENST00000217073	T;T;T;T	0.26373	1.74;1.74;1.74;1.74	5.17	5.17	0.71159	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.61048	0.2316	M	0.91300	3.195	0.80722	D	1	D	0.69078	0.997	D	0.72625	0.978	T	0.71537	-0.4563	10	0.87932	D	0	.	18.2846	0.90110	0.0:0.0:1.0:0.0	.	253	Q4VXU2	PAP1L_HUMAN	V	253	ENSP00000217074:G253V;ENSP00000255136:G253V;ENSP00000445661:G253V;ENSP00000217073:G253V	ENSP00000217073:G253V	G	+	2	0	PABPC1L	42983668	1.000000	0.71417	0.946000	0.38457	0.532000	0.34746	9.835000	0.99442	2.421000	0.82119	0.563000	0.77884	GGG	PABPC1L	-	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234		0.612	PABPC1L-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PABPC1L	HGNC	protein_coding	OTTHUMT00000127816.2	G			43550254	+1	no_errors	ENST00000217073	ensembl	human	known	70_37	missense	SNP	1.000	T
PCDH17	27253	genome.wustl.edu	37	13	58208845	58208845	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr13:58208845C>A	ENST00000377918.3	+	1	2191	c.2165C>A	c.(2164-2166)gCc>gAc	p.A722D		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	722					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CTCCTAGCGGCCATGATCACC	0.622																																					Melanoma(72;952 1291 1619 12849 33676)												0													78.0	76.0	76.0					13																	58208845		2203	4300	6503	SO:0001583	missense	27253			AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.2165C>A	13.37:g.58208845C>A	ENSP00000367151:p.Ala722Asp		A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A722D	ENST00000377918.3	37	c.2165	CCDS31986.1	13	.	.	.	.	.	.	.	.	.	.	C	18.69	3.677543	0.68042	.	.	ENSG00000118946	ENST00000377918	T	0.55413	0.52	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.66607	0.2806	L	0.55990	1.75	0.80722	D	1	D;D	0.59767	0.977;0.986	P;P	0.61275	0.886;0.856	T	0.64748	-0.6334	9	.	.	.	.	18.8751	0.92331	0.0:1.0:0.0:0.0	.	722;722	O14917-2;O14917	.;PCD17_HUMAN	D	722	ENSP00000367151:A722D	.	A	+	2	0	PCDH17	57106846	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.943000	0.63554	2.444000	0.82710	0.655000	0.94253	GCC	PCDH17	-	NULL		0.622	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDH17	HGNC	protein_coding	OTTHUMT00000045139.1	C	NM_001040429		58208845	+1	no_errors	ENST00000377918	ensembl	human	known	70_37	missense	SNP	1.000	A
PCDHAC1	56135	genome.wustl.edu	37	5	140308267	140308267	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr5:140308267C>T	ENST00000253807.2	+	1	1790	c.1790C>T	c.(1789-1791)tCc>tTc	p.S597F	PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.S597F|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron	NM_018898.3	NP_061721.2	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1	597	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCTGGCTTTCCTACCACATC	0.512																																																	0													93.0	95.0	94.0					5																	140308267		2203	4300	6503	SO:0001583	missense	56135			AF152473	CCDS4241.1	5q31	2010-11-26			ENSG00000248383	ENSG00000248383		"""Cadherins / Protocadherins : Clustered"""	8676	other	complex locus constituent	"""PCDH-ALPHA-C1"""	606320				10380929	Standard	NM_018898		Approved			Q9H158	OTTHUMG00000129603	ENST00000253807.2:c.1790C>T	5.37:g.140308267C>T	ENSP00000253807:p.Ser597Phe		Q9Y5F5|Q9Y5I5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.S597F	ENST00000253807.2	37	c.1790	CCDS4241.1	5	.	.	.	.	.	.	.	.	.	.	C	11.23	1.576691	0.28092	.	.	ENSG00000248383	ENST00000409700;ENST00000253807	T;T	0.52057	0.68;0.68	5.95	5.08	0.68730	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.63757	0.2538	M	0.73372	2.23	0.28937	N	0.891208	B;P	0.50156	0.076;0.932	B;P	0.58130	0.133;0.833	T	0.60984	-0.7154	9	0.34782	T	0.22	.	15.3486	0.74363	0.0:0.933:0.0:0.067	.	597;597	Q9H158;Q9H158-2	PCDC1_HUMAN;.	F	597	ENSP00000386356:S597F;ENSP00000253807:S597F	ENSP00000253807:S597F	S	+	2	0	PCDHAC1	140288451	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	2.337000	0.43947	1.519000	0.48950	0.563000	0.77884	TCC	PCDHAC1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.512	PCDHAC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDHAC1	HGNC	protein_coding	OTTHUMT00000251798.1	C	NM_018898		140308267	+1	no_errors	ENST00000253807	ensembl	human	known	70_37	missense	SNP	1.000	T
PCDHAC1	56135	genome.wustl.edu	37	5	140308267	140308267	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr5:140308267C>T	ENST00000253807.2	+	1	1790	c.1790C>T	c.(1789-1791)tCc>tTc	p.S597F	PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.S597F|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron	NM_018898.3	NP_061721.2	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1	597	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCTGGCTTTCCTACCACATC	0.512																																																	0													93.0	95.0	94.0					5																	140308267		2203	4300	6503	SO:0001583	missense	56135			AF152473	CCDS4241.1	5q31	2010-11-26			ENSG00000248383	ENSG00000248383		"""Cadherins / Protocadherins : Clustered"""	8676	other	complex locus constituent	"""PCDH-ALPHA-C1"""	606320				10380929	Standard	NM_018898		Approved			Q9H158	OTTHUMG00000129603	ENST00000253807.2:c.1790C>T	5.37:g.140308267C>T	ENSP00000253807:p.Ser597Phe		Q9Y5F5|Q9Y5I5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.S597F	ENST00000253807.2	37	c.1790	CCDS4241.1	5	.	.	.	.	.	.	.	.	.	.	C	11.23	1.576691	0.28092	.	.	ENSG00000248383	ENST00000409700;ENST00000253807	T;T	0.52057	0.68;0.68	5.95	5.08	0.68730	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.63757	0.2538	M	0.73372	2.23	0.28937	N	0.891208	B;P	0.50156	0.076;0.932	B;P	0.58130	0.133;0.833	T	0.60984	-0.7154	9	0.34782	T	0.22	.	15.3486	0.74363	0.0:0.933:0.0:0.067	.	597;597	Q9H158;Q9H158-2	PCDC1_HUMAN;.	F	597	ENSP00000386356:S597F;ENSP00000253807:S597F	ENSP00000253807:S597F	S	+	2	0	PCDHAC1	140288451	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	2.337000	0.43947	1.519000	0.48950	0.563000	0.77884	TCC	PCDHAC1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.512	PCDHAC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDHAC1	HGNC	protein_coding	OTTHUMT00000251798.1	C	NM_018898		140308267	+1	no_errors	ENST00000253807	ensembl	human	known	70_37	missense	SNP	1.000	T
PGLYRP2	114770	genome.wustl.edu	37	19	15586353	15586353	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr19:15586353G>T	ENST00000340880.4	-	2	1608	c.1128C>A	c.(1126-1128)ttC>ttA	p.F376L	PGLYRP2_ENST00000292609.4_Missense_Mutation_p.F376L	NM_052890.3	NP_443122.3	Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	376					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptide amidation (GO:0001519)|peptidoglycan catabolic process (GO:0009253)|regulation of inflammatory response (GO:0050727)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						CCTCACCCAGGAAGGCCTCAG	0.562																																																	0													103.0	107.0	106.0					19																	15586353		2203	4299	6502	SO:0001583	missense	114770			AY358156	CCDS12330.2	19p13.12	2010-04-27			ENSG00000161031	ENSG00000161031	3.5.1.28		30013	protein-coding gene	gene with protein product	"""peptidoglycan recognition protein L precursor"", ""peptidoglycan recognition protein-like"", ""N-acetylmuramoyl-L-alanine amidase"""	608199				11461926, 12669421, 14506276	Standard	NM_052890		Approved	PGRP-L, PGLYRPL, TAGL-like, tagL, tagL-alpha, tagl-beta, PGRPL	uc002nbf.4	Q96PD5	OTTHUMG00000150690	ENST00000340880.4:c.1128C>A	19.37:g.15586353G>T	ENSP00000345968:p.Phe376Leu		A8K050|A8K8C7|B2RMZ2|B7ZM33|Q68CK1|Q96N74|Q9UC60	Missense_Mutation	SNP	pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain	p.F376L	ENST00000340880.4	37	c.1128	CCDS12330.2	19	.	.	.	.	.	.	.	.	.	.	G	17.46	3.396328	0.62177	.	.	ENSG00000161031	ENST00000340880;ENST00000292609	T;T	0.04317	3.66;3.65	5.4	5.4	0.78164	N-acetylmuramoyl-L-alanine amidase domain (1);	0.336096	0.32147	N	0.006520	T	0.18383	0.0441	M	0.70595	2.14	0.38659	D	0.952021	P;D	0.63046	0.916;0.992	P;D	0.63033	0.794;0.91	T	0.00263	-1.1866	10	0.66056	D	0.02	-3.8594	14.6638	0.68893	0.0:0.0:1.0:0.0	.	376;376	Q96PD5-2;Q96PD5	.;PGRP2_HUMAN	L	376	ENSP00000345968:F376L;ENSP00000292609:F376L	ENSP00000292609:F376L	F	-	3	2	PGLYRP2	15447353	1.000000	0.71417	1.000000	0.80357	0.212000	0.24457	1.946000	0.40283	2.546000	0.85860	0.561000	0.74099	TTC	PGLYRP2	-	NULL		0.562	PGLYRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGLYRP2	HGNC	protein_coding	OTTHUMT00000319626.1	G	NM_052890		15586353	-1	no_errors	ENST00000292609	ensembl	human	known	70_37	missense	SNP	1.000	T
PIK3AP1	118788	genome.wustl.edu	37	10	98408550	98408550	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr10:98408550G>T	ENST00000339364.5	-	7	1170	c.1051C>A	c.(1051-1053)Ctc>Atc	p.L351I	PIK3AP1_ENST00000468783.1_5'UTR|PIK3AP1_ENST00000371110.2_Missense_Mutation_p.L173I	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	351					negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of inflammatory response (GO:0050727)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		AAGGCAGTGAGGTTCTTCAGT	0.507																																																	0													109.0	91.0	97.0					10																	98408550		2203	4300	6503	SO:0001583	missense	118788			AK092883	CCDS31259.1	10q24.2	2008-10-23			ENSG00000155629	ENSG00000155629			30034	protein-coding gene	gene with protein product		607942				1251844, 11163197	Standard	NM_152309		Approved	BCAP, FLJ35564	uc001kmq.3	Q6ZUJ8	OTTHUMG00000018838	ENST00000339364.5:c.1051C>A	10.37:g.98408550G>T	ENSP00000339826:p.Leu351Ile		Q5TB56|Q5VXJ9|Q8N6J6|Q8NAC8	Missense_Mutation	SNP	superfamily_Ankyrin_rpt-contain_dom	p.L351I	ENST00000339364.5	37	c.1051	CCDS31259.1	10	.	.	.	.	.	.	.	.	.	.	G	23.6	4.433664	0.83776	.	.	ENSG00000155629	ENST00000339364;ENST00000371110	T;T	0.54071	0.59;0.64	5.93	5.93	0.95920	Ankyrin repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.71204	0.3312	M	0.75615	2.305	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.73294	-0.4028	10	0.72032	D	0.01	-21.5379	12.612	0.56556	0.0749:0.0:0.925:0.0	.	351	Q6ZUJ8	BCAP_HUMAN	I	351;173	ENSP00000339826:L351I;ENSP00000360151:L173I	ENSP00000339826:L351I	L	-	1	0	PIK3AP1	98398540	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	6.757000	0.74924	2.805000	0.96524	0.655000	0.94253	CTC	PIK3AP1	-	superfamily_Ankyrin_rpt-contain_dom		0.507	PIK3AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3AP1	HGNC	protein_coding	OTTHUMT00000049619.2	G	NM_152309		98408550	-1	no_errors	ENST00000339364	ensembl	human	known	70_37	missense	SNP	1.000	T
PLSCR4	57088	genome.wustl.edu	37	3	145913067	145913067	+	Silent	SNP	G	G	C			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr3:145913067G>C	ENST00000354952.2	-	8	1029	c.789C>G	c.(787-789)gtC>gtG	p.V263V	PLSCR4_ENST00000433593.2_Silent_p.V158V|PLSCR4_ENST00000446574.2_Silent_p.V263V|PLSCR4_ENST00000493382.1_Silent_p.V263V|PLSCR4_ENST00000383083.2_Silent_p.V173V	NM_020353.2	NP_065086.2	Q9NRQ2	PLS4_HUMAN	phospholipid scramblase 4	263					cellular response to lipopolysaccharide (GO:0071222)|phospholipid scrambling (GO:0017121)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|CD4 receptor binding (GO:0042609)|enzyme binding (GO:0019899)|phospholipid scramblase activity (GO:0017128)			kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1)	17						CAAGGGATTTGACCTGGAATG	0.383																																																	0													141.0	122.0	128.0					3																	145913067		2203	4300	6503	SO:0001819	synonymous_variant	57088			AF199023	CCDS3133.1, CCDS54651.1	3q24	2008-07-18			ENSG00000114698	ENSG00000114698			16497	protein-coding gene	gene with protein product		607612				10930526	Standard	NM_020353		Approved		uc003evt.4	Q9NRQ2	OTTHUMG00000159415	ENST00000354952.2:c.789C>G	3.37:g.145913067G>C			A8K2E9|Q2TTR3|Q658L3|Q6ZR73|Q7Z505	Silent	SNP	pfam_Scramblase	p.V263	ENST00000354952.2	37	c.789	CCDS3133.1	3																																																																																			PLSCR4	-	pfam_Scramblase		0.383	PLSCR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLSCR4	HGNC	protein_coding	OTTHUMT00000355172.1	G	NM_020353		145913067	-1	no_errors	ENST00000354952	ensembl	human	known	70_37	silent	SNP	0.020	C
PLSCR4	57088	genome.wustl.edu	37	3	145913067	145913067	+	Silent	SNP	G	G	C			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr3:145913067G>C	ENST00000354952.2	-	8	1029	c.789C>G	c.(787-789)gtC>gtG	p.V263V	PLSCR4_ENST00000433593.2_Silent_p.V158V|PLSCR4_ENST00000446574.2_Silent_p.V263V|PLSCR4_ENST00000493382.1_Silent_p.V263V|PLSCR4_ENST00000383083.2_Silent_p.V173V	NM_020353.2	NP_065086.2	Q9NRQ2	PLS4_HUMAN	phospholipid scramblase 4	263					cellular response to lipopolysaccharide (GO:0071222)|phospholipid scrambling (GO:0017121)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|CD4 receptor binding (GO:0042609)|enzyme binding (GO:0019899)|phospholipid scramblase activity (GO:0017128)			kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1)	17						CAAGGGATTTGACCTGGAATG	0.383																																																	0													141.0	122.0	128.0					3																	145913067		2203	4300	6503	SO:0001819	synonymous_variant	57088			AF199023	CCDS3133.1, CCDS54651.1	3q24	2008-07-18			ENSG00000114698	ENSG00000114698			16497	protein-coding gene	gene with protein product		607612				10930526	Standard	NM_020353		Approved		uc003evt.4	Q9NRQ2	OTTHUMG00000159415	ENST00000354952.2:c.789C>G	3.37:g.145913067G>C			A8K2E9|Q2TTR3|Q658L3|Q6ZR73|Q7Z505	Silent	SNP	pfam_Scramblase	p.V263	ENST00000354952.2	37	c.789	CCDS3133.1	3																																																																																			PLSCR4	-	pfam_Scramblase		0.383	PLSCR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLSCR4	HGNC	protein_coding	OTTHUMT00000355172.1	G	NM_020353		145913067	-1	no_errors	ENST00000354952	ensembl	human	known	70_37	silent	SNP	0.020	C
PIK3CA	5290	genome.wustl.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	899	Substitution - Missense(899)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)											61.0	60.0	60.0					3																	178936091		1813	4072	5885	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E545K	ENST00000263967.3	37	c.1633	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	G			178936091	+1	no_errors	ENST00000263967	ensembl	human	known	70_37	missense	SNP	1.000	A
PIK3CA	5290	genome.wustl.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	899	Substitution - Missense(899)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)											61.0	60.0	60.0					3																	178936091		1813	4072	5885	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E545K	ENST00000263967.3	37	c.1633	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	G			178936091	+1	no_errors	ENST00000263967	ensembl	human	known	70_37	missense	SNP	1.000	A
PM20D2	135293	genome.wustl.edu	37	6	89856088	89856088	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr6:89856088G>C	ENST00000275072.4	+	1	320	c.225G>C	c.(223-225)tgG>tgC	p.W75C		NM_001010853.1	NP_001010853.1	Q8IYS1	P20D2_HUMAN	peptidase M20 domain containing 2	75						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)		CGGCCTCCTGGGCAGTGCAGC	0.756																																																	0													3.0	4.0	3.0					6																	89856088		1675	3597	5272	SO:0001583	missense	135293			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.225G>C	6.37:g.89856088G>C	ENSP00000275072:p.Trp75Cys		B4DYJ2|Q5T7J9|Q6MZV2|Q86XD9	Missense_Mutation	SNP	pfam_Peptidase_M20_dimer,pfam_Peptidase_M20,superfamily_Peptidase_M20_dimer,pirsf_Pept_M20D_amidohydro_pred	p.W75C	ENST00000275072.4	37	c.225	CCDS34499.1	6	.	.	.	.	.	.	.	.	.	.	G	18.24	3.581264	0.65992	.	.	ENSG00000146281	ENST00000275072	T	0.46819	0.86	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.58793	0.2147	M	0.72894	2.215	0.80722	D	1	D	0.76494	0.999	D	0.64144	0.922	T	0.57774	-0.7753	10	0.38643	T	0.18	-5.7416	17.8859	0.88854	0.0:0.0:1.0:0.0	.	75	Q8IYS1	P20D2_HUMAN	C	75	ENSP00000275072:W75C	ENSP00000275072:W75C	W	+	3	0	PM20D2	89912807	1.000000	0.71417	0.969000	0.41365	0.174000	0.22865	7.706000	0.84615	2.449000	0.82847	0.561000	0.74099	TGG	PM20D2	-	pirsf_Pept_M20D_amidohydro_pred		0.756	PM20D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PM20D2	HGNC	protein_coding	OTTHUMT00000041477.1	G	NM_001010853		89856088	+1	no_errors	ENST00000275072	ensembl	human	known	70_37	missense	SNP	1.000	C
PNLIPRP3	119548	genome.wustl.edu	37	10	118203952	118203952	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr10:118203952G>T	ENST00000369230.3	+	4	529	c.383G>T	c.(382-384)cGg>cTg	p.R128L		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	128					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	triglyceride lipase activity (GO:0004806)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		AACGGTTCACGGGAATACATC	0.328																																																	0													159.0	151.0	153.0					10																	118203952		2203	4300	6503	SO:0001583	missense	119548			BC015840	CCDS31292.1	10q26.12	2014-03-14			ENSG00000203837	ENSG00000203837	3.1.1.3		23492	protein-coding gene	gene with protein product							Standard	NM_001011709		Approved		uc001lcl.4	Q17RR3	OTTHUMG00000019100	ENST00000369230.3:c.383G>T	10.37:g.118203952G>T	ENSP00000358232:p.Arg128Leu			Missense_Mutation	SNP	pfam_Lipase_N,pfam_LipOase_LH2,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase,prints_Lipase_panc	p.R128L	ENST00000369230.3	37	c.383	CCDS31292.1	10	.	.	.	.	.	.	.	.	.	.	G	10.21	1.286397	0.23478	.	.	ENSG00000203837	ENST00000369230	D	0.91124	-2.79	5.28	-0.537	0.11872	Lipase, N-terminal (1);	1.758660	0.03630	N	0.237692	T	0.76779	0.4035	N	0.03917	-0.325	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.66456	-0.5919	10	0.14656	T	0.56	.	6.4542	0.21920	0.2394:0.0:0.3794:0.3812	.	128	Q17RR3	LIPR3_HUMAN	L	128	ENSP00000358232:R128L	ENSP00000358232:R128L	R	+	2	0	PNLIPRP3	118193942	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-1.283000	0.02796	0.045000	0.15804	-0.362000	0.07510	CGG	PNLIPRP3	-	pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase_panc		0.328	PNLIPRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNLIPRP3	HGNC	protein_coding	OTTHUMT00000050520.1	G	XM_058404		118203952	+1	no_errors	ENST00000369230	ensembl	human	known	70_37	missense	SNP	0.000	T
POLG	5428	genome.wustl.edu	37	15	89864064	89864064	+	Silent	SNP	G	G	T			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr15:89864064G>T	ENST00000268124.5	-	18	3247	c.2914C>A	c.(2914-2916)Cgg>Agg	p.R972R	POLG_ENST00000442287.2_Silent_p.R972R	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	972					aging (GO:0007568)|base-excision repair, gap-filling (GO:0006287)|cell death (GO:0008219)|DNA metabolic process (GO:0006259)|DNA-dependent DNA replication (GO:0006261)|mitochondrial DNA replication (GO:0006264)	extracellular vesicular exosome (GO:0070062)|gamma DNA polymerase complex (GO:0005760)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|exonuclease activity (GO:0004527)|protease binding (GO:0002020)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			TGTGTGAGCCGGTGGTTAAAC	0.582								DNA polymerases (catalytic subunits)																													Colon(73;648 1203 11348 18386 27782)												0													71.0	59.0	63.0					15																	89864064		2200	4299	6499	SO:0001819	synonymous_variant	5428			X98093	CCDS10350.1	15q24	2014-09-17			ENSG00000140521	ENSG00000140521		"""DNA polymerases"""	9179	protein-coding gene	gene with protein product		174763				9465903	Standard	NM_002693		Approved	POLG1, POLGA	uc002bnr.4	P54098	OTTHUMG00000149646	ENST00000268124.5:c.2914C>A	15.37:g.89864064G>T			Q8NFM2|Q92515	Silent	SNP	pirsf_DNA-dir_DNA_pol_A_mt_sub,pfam_DNA-dir_DNA_pol_A_palm_dom,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_A_palm_dom,prints_DNA-dir_DNA_pol_A_mt	p.R972	ENST00000268124.5	37	c.2914	CCDS10350.1	15																																																																																			POLG	-	pirsf_DNA-dir_DNA_pol_A_mt_sub,pfam_DNA-dir_DNA_pol_A_palm_dom,smart_DNA-dir_DNA_pol_A_palm_dom		0.582	POLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLG	HGNC	protein_coding	OTTHUMT00000312854.2	G	NM_002693		89864064	-1	no_errors	ENST00000268124	ensembl	human	known	70_37	silent	SNP	1.000	T
POLR3E	55718	genome.wustl.edu	37	16	22334233	22334233	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr16:22334233G>T	ENST00000299853.5	+	14	1216	c.1049G>T	c.(1048-1050)tGc>tTc	p.C350F	POLR3E_ENST00000564209.1_Missense_Mutation_p.C350F|POLR3E_ENST00000359210.4_Missense_Mutation_p.C350F|POLR3E_ENST00000418581.2_Missense_Mutation_p.C314F	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	350					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	centrosome (GO:0005813)|cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		GAGGTGCTCTGCAGGGGCCGA	0.637																																																	0													59.0	48.0	51.0					16																	22334233		2197	4300	6497	SO:0001583	missense	55718			AY092085	CCDS10605.1, CCDS58432.1, CCDS58433.1, CCDS58434.1, CCDS73845.1	16p12	2013-01-21			ENSG00000058600	ENSG00000058600		"""RNA polymerase subunits"""	30347	protein-coding gene	gene with protein product						10819331, 10521666	Standard	NM_018119		Approved	RPC5, SIN, FLJ10509	uc002dkk.4	Q9NVU0	OTTHUMG00000094779	ENST00000299853.5:c.1049G>T	16.37:g.22334233G>T	ENSP00000299853:p.Cys350Phe		B4DL24|B4DUP6|H3BT11|Q9BWF7|Q9H8W8|Q9H907|Q9P276	Missense_Mutation	SNP	pfam_RNA_pol_III_Rpc5	p.C350F	ENST00000299853.5	37	c.1049	CCDS10605.1	16	.	.	.	.	.	.	.	.	.	.	G	26.5	4.739316	0.89573	.	.	ENSG00000058600	ENST00000299853;ENST00000359210;ENST00000418581	T;T;T	0.43688	0.94;0.94;0.94	5.43	5.43	0.79202	.	0.044202	0.85682	D	0.000000	T	0.68504	0.3008	M	0.79926	2.475	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.999;1.0;0.999;1.0;0.999	D;D;D;D;D;D	0.81914	0.993;0.978;0.995;0.988;0.995;0.988	T	0.72743	-0.4201	10	0.87932	D	0	-19.0869	19.2357	0.93858	0.0:0.0:1.0:0.0	.	294;314;350;350;350;350	B4DDR0;B4DL24;B4DUP6;Q9NVU0-2;Q9NVU0;Q9NVU0-3	.;.;.;.;RPC5_HUMAN;.	F	350;350;314	ENSP00000299853:C350F;ENSP00000352140:C350F;ENSP00000399254:C314F	ENSP00000299853:C350F	C	+	2	0	POLR3E	22241734	1.000000	0.71417	0.997000	0.53966	0.983000	0.72400	9.331000	0.96430	2.550000	0.86006	0.655000	0.94253	TGC	POLR3E	-	pfam_RNA_pol_III_Rpc5		0.637	POLR3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR3E	HGNC	protein_coding	OTTHUMT00000211590.1	G	NM_018119		22334233	+1	no_errors	ENST00000299853	ensembl	human	known	70_37	missense	SNP	1.000	T
POLR3E	55718	genome.wustl.edu	37	16	22334233	22334233	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr16:22334233G>T	ENST00000299853.5	+	14	1216	c.1049G>T	c.(1048-1050)tGc>tTc	p.C350F	POLR3E_ENST00000564209.1_Missense_Mutation_p.C350F|POLR3E_ENST00000359210.4_Missense_Mutation_p.C350F|POLR3E_ENST00000418581.2_Missense_Mutation_p.C314F	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	350					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	centrosome (GO:0005813)|cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		GAGGTGCTCTGCAGGGGCCGA	0.637																																																	0													59.0	48.0	51.0					16																	22334233		2197	4300	6497	SO:0001583	missense	55718			AY092085	CCDS10605.1, CCDS58432.1, CCDS58433.1, CCDS58434.1, CCDS73845.1	16p12	2013-01-21			ENSG00000058600	ENSG00000058600		"""RNA polymerase subunits"""	30347	protein-coding gene	gene with protein product						10819331, 10521666	Standard	NM_018119		Approved	RPC5, SIN, FLJ10509	uc002dkk.4	Q9NVU0	OTTHUMG00000094779	ENST00000299853.5:c.1049G>T	16.37:g.22334233G>T	ENSP00000299853:p.Cys350Phe		B4DL24|B4DUP6|H3BT11|Q9BWF7|Q9H8W8|Q9H907|Q9P276	Missense_Mutation	SNP	pfam_RNA_pol_III_Rpc5	p.C350F	ENST00000299853.5	37	c.1049	CCDS10605.1	16	.	.	.	.	.	.	.	.	.	.	G	26.5	4.739316	0.89573	.	.	ENSG00000058600	ENST00000299853;ENST00000359210;ENST00000418581	T;T;T	0.43688	0.94;0.94;0.94	5.43	5.43	0.79202	.	0.044202	0.85682	D	0.000000	T	0.68504	0.3008	M	0.79926	2.475	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.999;1.0;0.999;1.0;0.999	D;D;D;D;D;D	0.81914	0.993;0.978;0.995;0.988;0.995;0.988	T	0.72743	-0.4201	10	0.87932	D	0	-19.0869	19.2357	0.93858	0.0:0.0:1.0:0.0	.	294;314;350;350;350;350	B4DDR0;B4DL24;B4DUP6;Q9NVU0-2;Q9NVU0;Q9NVU0-3	.;.;.;.;RPC5_HUMAN;.	F	350;350;314	ENSP00000299853:C350F;ENSP00000352140:C350F;ENSP00000399254:C314F	ENSP00000299853:C350F	C	+	2	0	POLR3E	22241734	1.000000	0.71417	0.997000	0.53966	0.983000	0.72400	9.331000	0.96430	2.550000	0.86006	0.655000	0.94253	TGC	POLR3E	-	pfam_RNA_pol_III_Rpc5		0.637	POLR3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR3E	HGNC	protein_coding	OTTHUMT00000211590.1	G	NM_018119		22334233	+1	no_errors	ENST00000299853	ensembl	human	known	70_37	missense	SNP	1.000	T
PPP2R2D	55844	genome.wustl.edu	37	10	133757608	133757608	+	3'UTR	SNP	G	G	T	rs545914041		TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr10:133757608G>T	ENST00000470416.1	+	0	104				PPP2R2D_ENST00000422256.2_5'UTR			Q66LE6	2ABD_HUMAN	protein phosphatase 2, regulatory subunit B, delta						exit from mitosis (GO:0010458)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(3)|large_intestine(3)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13		all_cancers(35;2.16e-12)|all_epithelial(44;2.77e-09)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Colorectal(31;0.0124)|Breast(234;0.023)|all_neural(114;0.0299)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.86e-05)|Epithelial(32;8.82e-05)|all cancers(32;0.000106)|BRCA - Breast invasive adenocarcinoma(275;0.21)		GATGACCTGAGAATTAATTTA	0.388																																																	0													127.0	124.0	125.0					10																	133757608		1848	4091	5939	SO:0001624	3_prime_UTR_variant	55844			AF220046	CCDS73224.1	10q26.3	2013-01-10	2010-06-18		ENSG00000175470	ENSG00000175470		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	23732	protein-coding gene	gene with protein product	"""PP2A subunit B isoform delta"""	613992	"""protein phosphatase 2, regulatory subunit B, delta isoform"""			10819331	Standard	XM_005277927		Approved	MDS026	uc001lks.3	Q66LE6	OTTHUMG00000019277	ENST00000470416.1:c.*101G>T	10.37:g.133757608G>T			A8KAK0|Q5SQJ2|Q9P1Y7	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55	p.R174I	ENST00000470416.1	37	c.521		10	.	.	.	.	.	.	.	.	.	.	G	26.8	4.768686	0.90020	.	.	ENSG00000175470	ENST00000455566	T	0.29655	1.56	3.89	3.89	0.44902	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.57125	0.2032	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.65467	-0.6161	9	0.87932	D	0	-30.8403	16.4715	0.84112	0.0:0.0:1.0:0.0	.	205	Q66LE6	2ABD_HUMAN	I	174	ENSP00000399970:R174I	ENSP00000399970:R174I	R	+	2	0	PPP2R2D	133607598	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.641000	0.91032	2.198000	0.70561	0.655000	0.94253	AGA	PPP2R2D	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55		0.388	PPP2R2D-005	KNOWN	basic	processed_transcript	PPP2R2D	HGNC	protein_coding	OTTHUMT00000051038.1	G	NM_018461		133757608	+1	no_errors	ENST00000455566	ensembl	human	known	70_37	missense	SNP	1.000	T
PRAMEF4	400735	genome.wustl.edu	37	1	12941851	12941851	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr1:12941851C>T	ENST00000235349.5	-	3	769	c.699G>A	c.(697-699)atG>atA	p.M233I		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	233					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GAAGATTCCTCATGTGGCCCA	0.493																																																	0													286.0	344.0	323.0					1																	12941851		1455	2557	4012	SO:0001583	missense	400735				CCDS30592.1	1p36.21	2013-01-17			ENSG00000243073	ENSG00000243073		"""-"""	31971	protein-coding gene	gene with protein product							Standard	NM_001009611		Approved	RP5-845O24.6	uc001aun.2	O60810	OTTHUMG00000001987	ENST00000235349.5:c.699G>A	1.37:g.12941851C>T	ENSP00000235349:p.Met233Ile		Q5LJB5	Missense_Mutation	SNP	NULL	p.M233I	ENST00000235349.5	37	c.699	CCDS30592.1	1	.	.	.	.	.	.	.	.	.	.	c	10.96	1.498378	0.26861	.	.	ENSG00000243073	ENST00000235349	T	0.00949	5.51	1.48	0.472	0.16758	.	0.114032	0.64402	D	0.000012	T	0.03871	0.0109	M	0.82517	2.595	0.09310	N	1	D	0.63880	0.993	D	0.73708	0.981	T	0.18366	-1.0339	10	0.54805	T	0.06	.	5.7377	0.18075	0.0:0.6622:0.3378:0.0	.	233	O60810	PRAM4_HUMAN	I	233	ENSP00000235349:M233I	ENSP00000235349:M233I	M	-	3	0	PRAMEF4	12864438	0.002000	0.14202	0.003000	0.11579	0.005000	0.04900	0.459000	0.21908	0.160000	0.19432	0.400000	0.26472	ATG	PRAMEF4	-	NULL		0.493	PRAMEF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF4	HGNC	protein_coding	OTTHUMT00000005518.1	C	NM_001009611		12941851	-1	no_errors	ENST00000235349	ensembl	human	known	70_37	missense	SNP	0.004	T
PRAMEF4	400735	genome.wustl.edu	37	1	12941851	12941851	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr1:12941851C>T	ENST00000235349.5	-	3	769	c.699G>A	c.(697-699)atG>atA	p.M233I		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	233					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GAAGATTCCTCATGTGGCCCA	0.493																																																	0													286.0	344.0	323.0					1																	12941851		1455	2557	4012	SO:0001583	missense	400735				CCDS30592.1	1p36.21	2013-01-17			ENSG00000243073	ENSG00000243073		"""-"""	31971	protein-coding gene	gene with protein product							Standard	NM_001009611		Approved	RP5-845O24.6	uc001aun.2	O60810	OTTHUMG00000001987	ENST00000235349.5:c.699G>A	1.37:g.12941851C>T	ENSP00000235349:p.Met233Ile		Q5LJB5	Missense_Mutation	SNP	NULL	p.M233I	ENST00000235349.5	37	c.699	CCDS30592.1	1	.	.	.	.	.	.	.	.	.	.	c	10.96	1.498378	0.26861	.	.	ENSG00000243073	ENST00000235349	T	0.00949	5.51	1.48	0.472	0.16758	.	0.114032	0.64402	D	0.000012	T	0.03871	0.0109	M	0.82517	2.595	0.09310	N	1	D	0.63880	0.993	D	0.73708	0.981	T	0.18366	-1.0339	10	0.54805	T	0.06	.	5.7377	0.18075	0.0:0.6622:0.3378:0.0	.	233	O60810	PRAM4_HUMAN	I	233	ENSP00000235349:M233I	ENSP00000235349:M233I	M	-	3	0	PRAMEF4	12864438	0.002000	0.14202	0.003000	0.11579	0.005000	0.04900	0.459000	0.21908	0.160000	0.19432	0.400000	0.26472	ATG	PRAMEF4	-	NULL		0.493	PRAMEF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF4	HGNC	protein_coding	OTTHUMT00000005518.1	C	NM_001009611		12941851	-1	no_errors	ENST00000235349	ensembl	human	known	70_37	missense	SNP	0.004	T
PRMT5	10419	genome.wustl.edu	37	14	23394235	23394235	+	Silent	SNP	G	G	A			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr14:23394235G>A	ENST00000324366.8	-	8	1015	c.792C>T	c.(790-792)ttC>ttT	p.F264F	PRMT5-AS1_ENST00000599580.2_RNA|PRMT5_ENST00000397440.4_Silent_p.F93F|PRMT5-AS1_ENST00000609885.1_RNA|PRMT5-AS1_ENST00000587245.2_RNA|PRMT5_ENST00000553641.1_5'Flank|PRMT5-AS1_ENST00000590290.1_RNA|PRMT5-AS1_ENST00000424245.2_RNA|PRMT5_ENST00000397441.2_Silent_p.F247F|PRMT5_ENST00000538452.1_Silent_p.F158F|PRMT5_ENST00000216350.8_Silent_p.F203F|PRMT5-AS1_ENST00000595662.1_RNA|PRMT5_ENST00000553897.1_Silent_p.F220F|PRMT5-AS1_ENST00000457443.2_RNA	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN	protein arginine methyltransferase 5	264	TIM barrel. {ECO:0000269|PubMed:23071334}.				cell proliferation (GO:0008283)|circadian regulation of gene expression (GO:0032922)|endothelial cell activation (GO:0042118)|gene expression (GO:0010467)|histone H4-R3 methylation (GO:0043985)|ncRNA metabolic process (GO:0034660)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to symmetrical-dimethyl arginine (GO:0019918)|peptidyl-arginine N-methylation (GO:0035246)|regulation of mitosis (GO:0007088)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|methylosome (GO:0034709)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|histone-arginine N-methyltransferase activity (GO:0008469)|methyltransferase activity (GO:0008168)|protein-arginine omega-N symmetric methyltransferase activity (GO:0035243)|ribonucleoprotein complex binding (GO:0043021)|transcription corepressor activity (GO:0003714)			endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		CTGTGATGATGAACTGCACCT	0.473																																																	0													172.0	166.0	168.0					14																	23394235		2203	4300	6503	SO:0001819	synonymous_variant	10419			AF015913	CCDS9579.1, CCDS41922.1, CCDS61394.1, CCDS61395.1, CCDS61396.1	14q11.2	2014-06-12	2006-02-16	2006-02-16	ENSG00000100462	ENSG00000100462	2.1.1.125	"""Protein arginine methyltransferases"""	10894	protein-coding gene	gene with protein product		604045	"""skb1 (S. pombe) homolog"", ""SKB1 homolog (S. pombe)"""	HRMT1L5, SKB1		9843966	Standard	NM_001282955		Approved	SKB1Hs	uc001whm.1	O14744	OTTHUMG00000028709	ENST00000324366.8:c.792C>T	14.37:g.23394235G>A			A8MTP3|A8MZ91|B4DX49|B4DY30|B5BU10|D3DS33|E2QRE7|Q6IBR1|Q9UKH1	Silent	SNP	pfam_Arg_MeTrfase,pirsf_Arg_MeTrfase_PRMT5	p.F264	ENST00000324366.8	37	c.792	CCDS9579.1	14																																																																																			PRMT5	-	pfam_Arg_MeTrfase,pirsf_Arg_MeTrfase_PRMT5		0.473	PRMT5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PRMT5	HGNC	protein_coding	OTTHUMT00000071674.3	G			23394235	-1	no_errors	ENST00000324366	ensembl	human	known	70_37	silent	SNP	1.000	A
PROX1-AS1	100505832	genome.wustl.edu	37	1	214152667	214152667	+	RNA	SNP	G	G	A			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr1:214152667G>A	ENST00000601744.1	-	0	97				PROX1-AS1_ENST00000598091.1_RNA|PROX1-AS1_ENST00000601854.1_RNA|PROX1-AS1_ENST00000451396.2_RNA					PROX1 antisense RNA 1																		TCCCAGTCCTGAGGCGTAGCA	0.483																																																	0																																												100505832			AK092251		1q32.3	2012-10-12	2012-08-15		ENSG00000230461	ENSG00000230461		"""Long non-coding RNAs"""	43656	non-coding RNA	RNA, long non-coding			"""PROX1 antisense RNA 1 (non-protein coding)"""				Standard	XR_248694		Approved				OTTHUMG00000036947		1.37:g.214152667G>A				RNA	SNP	-	NULL	ENST00000601744.1	37	NULL		1																																																																																			PROX1-AS1	-	-		0.483	PROX1-AS1-005	KNOWN	basic	antisense	PROX1-AS1	HGNC	antisense	OTTHUMT00000461173.1	G	NR_037850		214152667	-1	no_errors	ENST00000598091	ensembl	human	known	70_37	rna	SNP	0.000	A
PSG4	5672	genome.wustl.edu	37	19	43708080	43708080	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr19:43708080C>A	ENST00000405312.3	-	2	625	c.388G>T	c.(388-390)Ggg>Tgg	p.G130W	PSG4_ENST00000244295.9_Missense_Mutation_p.G130W|PSG4_ENST00000433626.2_Missense_Mutation_p.G130W	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	130	Ig-like V-type.				female pregnancy (GO:0007565)	extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				CCTCCAGTCCCATCGCGTCGC	0.498																																																	0													259.0	259.0	259.0					19																	43708080		2134	4272	6406	SO:0001583	missense	5672				CCDS33039.1, CCDS46093.1, CCDS62695.1	19q13.2	2013-01-29			ENSG00000243137	ENSG00000243137		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9521	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1-glycoprotein 4"""	176393				2783133	Standard	NM_002780		Approved		uc002ovy.4	Q00888	OTTHUMG00000151544	ENST00000405312.3:c.388G>T	19.37:g.43708080C>A	ENSP00000384770:p.Gly130Trp		E7EX79|Q13047|Q13048|Q15234|Q15240|Q9UQ76	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.G130W	ENST00000405312.3	37	c.388	CCDS46093.1	19	.	.	.	.	.	.	.	.	.	.	N	7.858	0.725467	0.15439	.	.	ENSG00000243137	ENST00000244295;ENST00000405312;ENST00000433626;ENST00000451895	T;T;T;T	0.59083	0.64;0.29;1.42;2.72	1.48	-2.96	0.05547	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.62490	0.2432	L	0.50333	1.59	0.09310	N	1	D;D;D	0.71674	0.998;0.979;0.965	D;D;P	0.79784	0.993;0.955;0.762	T	0.55244	-0.8171	9	0.66056	D	0.02	.	3.9538	0.09380	0.0:0.4481:0.2324:0.3195	.	130;130;130	E7EX79;Q00888-2;Q00888	.;.;PSG4_HUMAN	W	130;130;130;146	ENSP00000244295:G130W;ENSP00000384770:G130W;ENSP00000387864:G130W;ENSP00000388134:G146W	ENSP00000244295:G130W	G	-	1	0	PSG4	48399920	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.226000	0.00550	-1.349000	0.02202	-1.169000	0.01745	GGG	PSG4	-	smart_Ig_sub		0.498	PSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSG4	HGNC	protein_coding	OTTHUMT00000323073.1	C	NM_213633		43708080	-1	no_errors	ENST00000405312	ensembl	human	known	70_37	missense	SNP	0.000	A
PTCHD2	57540	genome.wustl.edu	37	1	11575526	11575526	+	Silent	SNP	G	G	C			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr1:11575526G>C	ENST00000294484.6	+	5	1692	c.1554G>C	c.(1552-1554)ctG>ctC	p.L518L	PTCHD2_ENST00000389575.3_Silent_p.L518L	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	518	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		TGGGCATCCTGAATGGGGTGG	0.577																																																	0													158.0	151.0	154.0					1																	11575526		2114	4242	6356	SO:0001819	synonymous_variant	57540			AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.1554G>C	1.37:g.11575526G>C			Q5VTU9|Q9UJD6	Silent	SNP	pfam_Patched,pfam_MMPL-typ,pfscan_SSD	p.L518	ENST00000294484.6	37	c.1554	CCDS41247.1	1																																																																																			PTCHD2	-	pfam_Patched,pfam_MMPL-typ,pfscan_SSD		0.577	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PTCHD2	HGNC	protein_coding	OTTHUMT00000005770.2	G	XM_052561		11575526	+1	no_errors	ENST00000294484	ensembl	human	known	70_37	silent	SNP	1.000	C
PTCHD2	57540	genome.wustl.edu	37	1	11575526	11575526	+	Silent	SNP	G	G	C			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr1:11575526G>C	ENST00000294484.6	+	5	1692	c.1554G>C	c.(1552-1554)ctG>ctC	p.L518L	PTCHD2_ENST00000389575.3_Silent_p.L518L	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	518	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		TGGGCATCCTGAATGGGGTGG	0.577																																																	0													158.0	151.0	154.0					1																	11575526		2114	4242	6356	SO:0001819	synonymous_variant	57540			AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.1554G>C	1.37:g.11575526G>C			Q5VTU9|Q9UJD6	Silent	SNP	pfam_Patched,pfam_MMPL-typ,pfscan_SSD	p.L518	ENST00000294484.6	37	c.1554	CCDS41247.1	1																																																																																			PTCHD2	-	pfam_Patched,pfam_MMPL-typ,pfscan_SSD		0.577	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PTCHD2	HGNC	protein_coding	OTTHUMT00000005770.2	G	XM_052561		11575526	+1	no_errors	ENST00000294484	ensembl	human	known	70_37	silent	SNP	1.000	C
QRICH2	84074	genome.wustl.edu	37	17	74288517	74288517	+	Missense_Mutation	SNP	G	G	T	rs375649463		TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr17:74288517G>T	ENST00000262765.5	-	4	1972	c.1793C>A	c.(1792-1794)cCt>cAt	p.P598H		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	598	Gln-rich.									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						ATCTGCACCAGGTTGGACCAA	0.532																																																	0													170.0	136.0	147.0					17																	74288517		2203	4300	6503	SO:0001583	missense	84074			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.1793C>A	17.37:g.74288517G>T	ENSP00000262765:p.Pro598His		A2RRE1|Q96LM3	Missense_Mutation	SNP	NULL	p.P598H	ENST00000262765.5	37	c.1793	CCDS32741.1	17	.	.	.	.	.	.	.	.	.	.	G	10.92	1.488158	0.26686	.	.	ENSG00000129646	ENST00000262765;ENST00000301613	T	0.24908	1.83	4.82	4.82	0.62117	.	.	.	.	.	T	0.54515	0.1863	M	0.80422	2.495	0.09310	N	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.943;0.999	T	0.50145	-0.8862	9	0.72032	D	0.01	-4.9374	15.3788	0.74637	0.0:0.0:1.0:0.0	.	598;598	B5MD94;Q9H0J4	.;QRIC2_HUMAN	H	598	ENSP00000262765:P598H	ENSP00000262765:P598H	P	-	2	0	QRICH2	71800112	0.000000	0.05858	0.006000	0.13384	0.004000	0.04260	-0.304000	0.08199	2.177000	0.69029	0.557000	0.71058	CCT	QRICH2	-	NULL		0.532	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	QRICH2	HGNC	protein_coding	OTTHUMT00000395140.1	G	NM_032134		74288517	-1	no_errors	ENST00000262765	ensembl	human	known	70_37	missense	SNP	0.004	T
QRICH2	84074	genome.wustl.edu	37	17	74288517	74288517	+	Missense_Mutation	SNP	G	G	T	rs375649463		TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr17:74288517G>T	ENST00000262765.5	-	4	1972	c.1793C>A	c.(1792-1794)cCt>cAt	p.P598H		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	598	Gln-rich.									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						ATCTGCACCAGGTTGGACCAA	0.532																																																	0													170.0	136.0	147.0					17																	74288517		2203	4300	6503	SO:0001583	missense	84074			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.1793C>A	17.37:g.74288517G>T	ENSP00000262765:p.Pro598His		A2RRE1|Q96LM3	Missense_Mutation	SNP	NULL	p.P598H	ENST00000262765.5	37	c.1793	CCDS32741.1	17	.	.	.	.	.	.	.	.	.	.	G	10.92	1.488158	0.26686	.	.	ENSG00000129646	ENST00000262765;ENST00000301613	T	0.24908	1.83	4.82	4.82	0.62117	.	.	.	.	.	T	0.54515	0.1863	M	0.80422	2.495	0.09310	N	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.943;0.999	T	0.50145	-0.8862	9	0.72032	D	0.01	-4.9374	15.3788	0.74637	0.0:0.0:1.0:0.0	.	598;598	B5MD94;Q9H0J4	.;QRIC2_HUMAN	H	598	ENSP00000262765:P598H	ENSP00000262765:P598H	P	-	2	0	QRICH2	71800112	0.000000	0.05858	0.006000	0.13384	0.004000	0.04260	-0.304000	0.08199	2.177000	0.69029	0.557000	0.71058	CCT	QRICH2	-	NULL		0.532	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	QRICH2	HGNC	protein_coding	OTTHUMT00000395140.1	G	NM_032134		74288517	-1	no_errors	ENST00000262765	ensembl	human	known	70_37	missense	SNP	0.004	T
RBM4	5936	genome.wustl.edu	37	11	66411229	66411229	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr11:66411229G>A	ENST00000409406.1	+	2	1498	c.721G>A	c.(721-723)Gtg>Atg	p.V241M	RBM4_ENST00000514361.3_Missense_Mutation_p.V216M|RBM4_ENST00000408993.2_Missense_Mutation_p.V241M|RBM4_ENST00000530235.1_Intron|RBM4_ENST00000310092.7_Missense_Mutation_p.V241M|RBM4_ENST00000515838.2_3'UTR|RBM4_ENST00000578778.1_Intron|RBM4_ENST00000398692.4_Intron|RBM4_ENST00000503028.2_Missense_Mutation_p.V241M|RBM4_ENST00000506523.2_Intron|RBM14-RBM4_ENST00000412278.2_Missense_Mutation_p.V216M|RBM4_ENST00000396053.4_Intron|RBM14-RBM4_ENST00000500635.2_Intron			Q9BWF3	RBM4_HUMAN	RNA binding motif protein 4	241	Interaction with TNPO3.				cap-independent translational initiation (GO:0002190)|cell differentiation (GO:0030154)|circadian regulation of translation (GO:0097167)|entrainment of circadian clock by photoperiod (GO:0043153)|IRES-dependent translational initiation (GO:0002192)|mRNA processing (GO:0006397)|negative regulation of translation (GO:0017148)|negative regulation of translation in response to stress (GO:0032055)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of nucleocytoplasmic transport (GO:0046822)|response to arsenic-containing substance (GO:0046685)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|stress-activated MAPK cascade (GO:0051403)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	miRNA binding (GO:0035198)|mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA intronic binding (GO:0097157)|pre-mRNA intronic pyrimidine-rich binding (GO:0097158)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		AGCTGCCTCCGTGTATAATTA	0.567																																																	0													37.0	44.0	42.0					11																	66411229		2041	4210	6251	SO:0001583	missense	5936			U89505	CCDS41676.1, CCDS55776.1, CCDS55777.1	11q13	2013-02-12			ENSG00000173933	ENSG00000173933		"""Zinc fingers, CCHC domain containing"", ""RNA binding motif (RRM) containing"""	9901	protein-coding gene	gene with protein product		602571				9169144, 16260624	Standard	NM_002896		Approved	LARK, RBM4A, ZCRB3A, ZCCHC21		Q9BWF3	OTTHUMG00000154171	ENST00000409406.1:c.721G>A	11.37:g.66411229G>A	ENSP00000386894:p.Val241Met		B3KUN0|B4E1U0|E7EQS3|O02916|Q4VC48|Q6P1P2|Q8WU85	Missense_Mutation	SNP	pfam_RRM_dom,pfam_Znf_CCHC,smart_RRM_dom,smart_Znf_CCHC,pfscan_Znf_CCHC,pfscan_RRM_dom	p.V241M	ENST00000409406.1	37	c.721	CCDS41676.1	11	.	.	.	.	.	.	.	.	.	.	G	12.82	2.052068	0.36181	.	.	ENSG00000248643;ENSG00000248643;ENSG00000248643;ENSG00000173933;ENSG00000173933;ENSG00000173933	ENST00000412278;ENST00000503028;ENST00000514361;ENST00000310092;ENST00000408993;ENST00000409406	T;T;T;T;T	0.46451	0.87;1.7;1.7;1.7;1.7	6.06	6.06	0.98353	.	2.009150	0.04344	U	0.354605	T	0.32793	0.0841	N	0.08118	0	0.22034	N	0.999409	B;B	0.24882	0.008;0.113	B;B	0.10450	0.005;0.003	T	0.38499	-0.9658	10	0.38643	T	0.18	-1.0988	18.1147	0.89549	0.0:0.0:1.0:0.0	.	216;241	B0LM41;Q9BWF3	.;RBM4_HUMAN	M	216;241;241;241;241;241	ENSP00000388552:V216M;ENSP00000425760:V241M;ENSP00000309166:V241M;ENSP00000386561:V241M;ENSP00000386894:V241M	ENSP00000388552:V216M	V	+	1	0	RBM4;RBM14-RBM4	66167805	0.996000	0.38824	1.000000	0.80357	0.997000	0.91878	5.090000	0.64498	2.882000	0.98803	0.655000	0.94253	GTG	RBM4	-	NULL		0.567	RBM4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RBM4	HGNC	protein_coding	OTTHUMT00000334212.1	G	NM_002896		66411229	+1	no_errors	ENST00000310092	ensembl	human	known	70_37	missense	SNP	0.998	A
RBM4	5936	genome.wustl.edu	37	11	66411229	66411229	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr11:66411229G>A	ENST00000409406.1	+	2	1498	c.721G>A	c.(721-723)Gtg>Atg	p.V241M	RBM4_ENST00000514361.3_Missense_Mutation_p.V216M|RBM4_ENST00000408993.2_Missense_Mutation_p.V241M|RBM4_ENST00000530235.1_Intron|RBM4_ENST00000310092.7_Missense_Mutation_p.V241M|RBM4_ENST00000515838.2_3'UTR|RBM4_ENST00000578778.1_Intron|RBM4_ENST00000398692.4_Intron|RBM4_ENST00000503028.2_Missense_Mutation_p.V241M|RBM4_ENST00000506523.2_Intron|RBM14-RBM4_ENST00000412278.2_Missense_Mutation_p.V216M|RBM4_ENST00000396053.4_Intron|RBM14-RBM4_ENST00000500635.2_Intron			Q9BWF3	RBM4_HUMAN	RNA binding motif protein 4	241	Interaction with TNPO3.				cap-independent translational initiation (GO:0002190)|cell differentiation (GO:0030154)|circadian regulation of translation (GO:0097167)|entrainment of circadian clock by photoperiod (GO:0043153)|IRES-dependent translational initiation (GO:0002192)|mRNA processing (GO:0006397)|negative regulation of translation (GO:0017148)|negative regulation of translation in response to stress (GO:0032055)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of nucleocytoplasmic transport (GO:0046822)|response to arsenic-containing substance (GO:0046685)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|stress-activated MAPK cascade (GO:0051403)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	miRNA binding (GO:0035198)|mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA intronic binding (GO:0097157)|pre-mRNA intronic pyrimidine-rich binding (GO:0097158)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		AGCTGCCTCCGTGTATAATTA	0.567																																																	0													37.0	44.0	42.0					11																	66411229		2041	4210	6251	SO:0001583	missense	5936			U89505	CCDS41676.1, CCDS55776.1, CCDS55777.1	11q13	2013-02-12			ENSG00000173933	ENSG00000173933		"""Zinc fingers, CCHC domain containing"", ""RNA binding motif (RRM) containing"""	9901	protein-coding gene	gene with protein product		602571				9169144, 16260624	Standard	NM_002896		Approved	LARK, RBM4A, ZCRB3A, ZCCHC21		Q9BWF3	OTTHUMG00000154171	ENST00000409406.1:c.721G>A	11.37:g.66411229G>A	ENSP00000386894:p.Val241Met		B3KUN0|B4E1U0|E7EQS3|O02916|Q4VC48|Q6P1P2|Q8WU85	Missense_Mutation	SNP	pfam_RRM_dom,pfam_Znf_CCHC,smart_RRM_dom,smart_Znf_CCHC,pfscan_Znf_CCHC,pfscan_RRM_dom	p.V241M	ENST00000409406.1	37	c.721	CCDS41676.1	11	.	.	.	.	.	.	.	.	.	.	G	12.82	2.052068	0.36181	.	.	ENSG00000248643;ENSG00000248643;ENSG00000248643;ENSG00000173933;ENSG00000173933;ENSG00000173933	ENST00000412278;ENST00000503028;ENST00000514361;ENST00000310092;ENST00000408993;ENST00000409406	T;T;T;T;T	0.46451	0.87;1.7;1.7;1.7;1.7	6.06	6.06	0.98353	.	2.009150	0.04344	U	0.354605	T	0.32793	0.0841	N	0.08118	0	0.22034	N	0.999409	B;B	0.24882	0.008;0.113	B;B	0.10450	0.005;0.003	T	0.38499	-0.9658	10	0.38643	T	0.18	-1.0988	18.1147	0.89549	0.0:0.0:1.0:0.0	.	216;241	B0LM41;Q9BWF3	.;RBM4_HUMAN	M	216;241;241;241;241;241	ENSP00000388552:V216M;ENSP00000425760:V241M;ENSP00000309166:V241M;ENSP00000386561:V241M;ENSP00000386894:V241M	ENSP00000388552:V216M	V	+	1	0	RBM4;RBM14-RBM4	66167805	0.996000	0.38824	1.000000	0.80357	0.997000	0.91878	5.090000	0.64498	2.882000	0.98803	0.655000	0.94253	GTG	RBM4	-	NULL		0.567	RBM4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RBM4	HGNC	protein_coding	OTTHUMT00000334212.1	G	NM_002896		66411229	+1	no_errors	ENST00000310092	ensembl	human	known	70_37	missense	SNP	0.998	A
RIT1	6016	genome.wustl.edu	37	1	155874261	155874261	+	Missense_Mutation	SNP	C	C	T	rs483352822		TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr1:155874261C>T	ENST00000368323.3	-	5	474	c.270G>A	c.(268-270)atG>atA	p.M90I	RIT1_ENST00000539040.1_Missense_Mutation_p.M54I|RIT1_ENST00000368322.3_Missense_Mutation_p.M107I	NM_006912.5	NP_008843.1	Q92963	RIT1_HUMAN	Ras-like without CAAX 1	90			M -> I (probable disease-associated mutation found in patients with features of Noonan syndrome). {ECO:0000269|PubMed:23791108}.		GTP catabolic process (GO:0006184)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTP binding (GO:0005525)	p.M90I(2)		breast(1)|kidney(1)|large_intestine(3)|lung(12)|skin(1)|urinary_tract(1)	19	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;1.79e-05)			CTCCTGCCCTCATATACTGGT	0.433																																																	2	Substitution - Missense(2)	lung(2)											97.0	81.0	86.0					1																	155874261		2203	4300	6503	SO:0001583	missense	6016			AF084462	CCDS1123.1, CCDS58037.1, CCDS58036.1	1q21.2	2014-05-09	2002-09-11	2002-09-13	ENSG00000143622	ENSG00000143622			10023	protein-coding gene	gene with protein product	"""Ric-like, expressed in many tissues"", ""GTP-binding protein Roc1"""	609591	"""Ric (Drosophila)-like, expressed in many tissues"""	RIT		8824319, 8918462	Standard	NM_006912		Approved	RIBB, ROC1, MGC125864, MGC125865	uc031pqc.1	Q92963	OTTHUMG00000014104	ENST00000368323.3:c.270G>A	1.37:g.155874261C>T	ENSP00000357306:p.Met90Ile		B4DQE8|O00646|O00720|Q5VY89|Q5VY90	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,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.M90I	ENST00000368323.3	37	c.270	CCDS1123.1	1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.666051	0.88251	.	.	ENSG00000143622	ENST00000368323;ENST00000539040;ENST00000368322	T;T;T	0.76186	-1.0;-1.0;-1.0	5.76	5.76	0.90799	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.70527	0.3234	N	0.05619	-0.005	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.77739	-0.2475	10	0.54805	T	0.06	.	19.5715	0.95421	0.0:1.0:0.0:0.0	.	90	Q92963	RIT1_HUMAN	I	90;54;107	ENSP00000357306:M90I;ENSP00000441950:M54I;ENSP00000357305:M107I	ENSP00000357305:M107I	M	-	3	0	RIT1	154140885	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.346000	0.72999	2.733000	0.93635	0.467000	0.42956	ATG	RIT1	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom		0.433	RIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIT1	HGNC	protein_coding	OTTHUMT00000039593.1	C	NM_006912		155874261	-1	no_errors	ENST00000368323	ensembl	human	known	70_37	missense	SNP	1.000	T
RIT1	6016	genome.wustl.edu	37	1	155874261	155874261	+	Missense_Mutation	SNP	C	C	T	rs483352822		TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr1:155874261C>T	ENST00000368323.3	-	5	474	c.270G>A	c.(268-270)atG>atA	p.M90I	RIT1_ENST00000539040.1_Missense_Mutation_p.M54I|RIT1_ENST00000368322.3_Missense_Mutation_p.M107I	NM_006912.5	NP_008843.1	Q92963	RIT1_HUMAN	Ras-like without CAAX 1	90			M -> I (probable disease-associated mutation found in patients with features of Noonan syndrome). {ECO:0000269|PubMed:23791108}.		GTP catabolic process (GO:0006184)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTP binding (GO:0005525)	p.M90I(2)		breast(1)|kidney(1)|large_intestine(3)|lung(12)|skin(1)|urinary_tract(1)	19	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;1.79e-05)			CTCCTGCCCTCATATACTGGT	0.433																																																	2	Substitution - Missense(2)	lung(2)											97.0	81.0	86.0					1																	155874261		2203	4300	6503	SO:0001583	missense	6016			AF084462	CCDS1123.1, CCDS58037.1, CCDS58036.1	1q21.2	2014-05-09	2002-09-11	2002-09-13	ENSG00000143622	ENSG00000143622			10023	protein-coding gene	gene with protein product	"""Ric-like, expressed in many tissues"", ""GTP-binding protein Roc1"""	609591	"""Ric (Drosophila)-like, expressed in many tissues"""	RIT		8824319, 8918462	Standard	NM_006912		Approved	RIBB, ROC1, MGC125864, MGC125865	uc031pqc.1	Q92963	OTTHUMG00000014104	ENST00000368323.3:c.270G>A	1.37:g.155874261C>T	ENSP00000357306:p.Met90Ile		B4DQE8|O00646|O00720|Q5VY89|Q5VY90	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,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.M90I	ENST00000368323.3	37	c.270	CCDS1123.1	1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.666051	0.88251	.	.	ENSG00000143622	ENST00000368323;ENST00000539040;ENST00000368322	T;T;T	0.76186	-1.0;-1.0;-1.0	5.76	5.76	0.90799	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.70527	0.3234	N	0.05619	-0.005	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.77739	-0.2475	10	0.54805	T	0.06	.	19.5715	0.95421	0.0:1.0:0.0:0.0	.	90	Q92963	RIT1_HUMAN	I	90;54;107	ENSP00000357306:M90I;ENSP00000441950:M54I;ENSP00000357305:M107I	ENSP00000357305:M107I	M	-	3	0	RIT1	154140885	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.346000	0.72999	2.733000	0.93635	0.467000	0.42956	ATG	RIT1	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom		0.433	RIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIT1	HGNC	protein_coding	OTTHUMT00000039593.1	C	NM_006912		155874261	-1	no_errors	ENST00000368323	ensembl	human	known	70_37	missense	SNP	1.000	T
RNF152	220441	genome.wustl.edu	37	18	59560071	59560071	+	5'UTR	SNP	C	C	T			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr18:59560071C>T	ENST00000312828.3	-	0	921				RNF152_ENST00000588064.1_5'UTR	NM_173557.2	NP_775828.1	Q8N8N0	RN152_HUMAN	ring finger protein 152						apoptotic process (GO:0006915)|protein K48-linked ubiquitination (GO:0070936)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)	17		Colorectal(73;0.186)				TGCGTGATGACATCAAGTGGA	0.527											OREG0025029	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001623	5_prime_UTR_variant	220441			AK096495	CCDS11978.1	18q21.33	2013-01-09			ENSG00000176641	ENSG00000176641		"""RING-type (C3HC4) zinc fingers"""	26811	protein-coding gene	gene with protein product							Standard	XM_005266650		Approved	FLJ39176	uc002lih.1	Q8N8N0	OTTHUMG00000132774	ENST00000312828.3:c.-179G>A	18.37:g.59560071C>T		1039	B3KV99|Q52LA4	RNA	SNP	-	NULL	ENST00000312828.3	37	NULL	CCDS11978.1	18																																																																																			RNF152	-	-		0.527	RNF152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF152	HGNC	protein_coding	OTTHUMT00000256180.1	C	NM_173557		59560071	-1	no_errors	ENST00000588396	ensembl	human	known	70_37	rna	SNP	1.000	T
ROR2	4920	genome.wustl.edu	37	9	94495419	94495419	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr9:94495419C>T	ENST00000375708.3	-	6	1120	c.922G>A	c.(922-924)Gag>Aag	p.E308K	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Missense_Mutation_p.E168K	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	308					cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CCCAGCCTCTCGGCTGGGATG	0.687																																																	0													5.0	7.0	6.0					9																	94495419		1944	3927	5871	SO:0001583	missense	4920			M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"""Immunoglobulin superfamily / I-set domain containing"""	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.922G>A	9.37:g.94495419C>T	ENSP00000364860:p.Glu308Lys		Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Kringle,pfam_Frizzled_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Kringle-like,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Kringle,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_rcpt_ROR,pfscan_Frizzled_dom,pfscan_Kringle,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E308K	ENST00000375708.3	37	c.922	CCDS6691.1	9	.	.	.	.	.	.	.	.	.	.	C	17.14	3.314158	0.60414	.	.	ENSG00000169071	ENST00000375715;ENST00000375708	T;T	0.77098	-1.07;-1.06	4.44	4.44	0.53790	Kringle (1);Kringle-like fold (1);	0.000000	0.42548	D	0.000681	T	0.67353	0.2884	L	0.42632	1.34	0.80722	D	1	P;P;P	0.52316	0.894;0.952;0.667	B;B;B	0.36092	0.217;0.202;0.154	T	0.68447	-0.5406	10	0.21540	T	0.41	.	17.2815	0.87129	0.0:1.0:0.0:0.0	.	308;308;168	A1L4F5;Q01974;B1APY4	.;ROR2_HUMAN;.	K	168;308	ENSP00000364867:E168K;ENSP00000364860:E308K	ENSP00000364860:E308K	E	-	1	0	ROR2	93535240	1.000000	0.71417	0.931000	0.37212	0.729000	0.41735	6.899000	0.75682	2.306000	0.77630	0.561000	0.74099	GAG	ROR2	-	superfamily_Kringle-like,pirsf_Tyr_kinase_rcpt_ROR		0.687	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROR2	HGNC	protein_coding	OTTHUMT00000053040.1	C			94495419	-1	no_errors	ENST00000375708	ensembl	human	known	70_37	missense	SNP	0.999	T
ROR2	4920	genome.wustl.edu	37	9	94495419	94495419	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr9:94495419C>T	ENST00000375708.3	-	6	1120	c.922G>A	c.(922-924)Gag>Aag	p.E308K	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Missense_Mutation_p.E168K	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	308					cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CCCAGCCTCTCGGCTGGGATG	0.687																																																	0													5.0	7.0	6.0					9																	94495419		1944	3927	5871	SO:0001583	missense	4920			M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"""Immunoglobulin superfamily / I-set domain containing"""	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.922G>A	9.37:g.94495419C>T	ENSP00000364860:p.Glu308Lys		Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Kringle,pfam_Frizzled_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Kringle-like,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Kringle,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_rcpt_ROR,pfscan_Frizzled_dom,pfscan_Kringle,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E308K	ENST00000375708.3	37	c.922	CCDS6691.1	9	.	.	.	.	.	.	.	.	.	.	C	17.14	3.314158	0.60414	.	.	ENSG00000169071	ENST00000375715;ENST00000375708	T;T	0.77098	-1.07;-1.06	4.44	4.44	0.53790	Kringle (1);Kringle-like fold (1);	0.000000	0.42548	D	0.000681	T	0.67353	0.2884	L	0.42632	1.34	0.80722	D	1	P;P;P	0.52316	0.894;0.952;0.667	B;B;B	0.36092	0.217;0.202;0.154	T	0.68447	-0.5406	10	0.21540	T	0.41	.	17.2815	0.87129	0.0:1.0:0.0:0.0	.	308;308;168	A1L4F5;Q01974;B1APY4	.;ROR2_HUMAN;.	K	168;308	ENSP00000364867:E168K;ENSP00000364860:E308K	ENSP00000364860:E308K	E	-	1	0	ROR2	93535240	1.000000	0.71417	0.931000	0.37212	0.729000	0.41735	6.899000	0.75682	2.306000	0.77630	0.561000	0.74099	GAG	ROR2	-	superfamily_Kringle-like,pirsf_Tyr_kinase_rcpt_ROR		0.687	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROR2	HGNC	protein_coding	OTTHUMT00000053040.1	C			94495419	-1	no_errors	ENST00000375708	ensembl	human	known	70_37	missense	SNP	0.999	T
RPL23AP79	100271626	genome.wustl.edu	37	19	59093704	59093704	+	RNA	SNP	C	C	A			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr19:59093704C>A	ENST00000493504.1	+	0	1222					NR_026052.1				ribosomal protein L23a pseudogene 79																		TACGACCTTCCCTACAAGGGG	0.582																																																	0																																												100271626					19q13.4	2009-03-11							36226	pseudogene	pseudogene						19123937	Standard	NG_010019		Approved						19.37:g.59093704C>A				RNA	SNP	-	NULL	ENST00000493504.1	37	NULL		19																																																																																			RPL23AP79	-	-		0.582	RPL23AP79-003	KNOWN	basic	processed_transcript	RPL23AP79	HGNC	pseudogene	OTTHUMT00000350753.1	C	NG_010019		59093704	+1	no_errors	ENST00000493504	ensembl	human	known	70_37	rna	SNP	0.000	A
RTTN	25914	genome.wustl.edu	37	18	67781755	67781755	+	Silent	SNP	G	G	A			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr18:67781755G>A	ENST00000255674.6	-	27	3895	c.3609C>T	c.(3607-3609)gtC>gtT	p.V1203V	RTTN_ENST00000437017.1_Silent_p.V1203V|RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1203					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				GTTGTTGCCTGACAGCAGTCC	0.398																																																	0													128.0	120.0	123.0					18																	67781755		1873	4122	5995	SO:0001819	synonymous_variant	25914			AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.3609C>T	18.37:g.67781755G>A			Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Silent	SNP	superfamily_ARM-type_fold	p.V1203	ENST00000255674.6	37	c.3609	CCDS42443.1	18																																																																																			RTTN	-	NULL		0.398	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTTN	HGNC	protein_coding	OTTHUMT00000442988.1	G	NM_173630		67781755	-1	no_errors	ENST00000255674	ensembl	human	known	70_37	silent	SNP	1.000	A
RTTN	25914	genome.wustl.edu	37	18	67781755	67781755	+	Silent	SNP	G	G	A			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr18:67781755G>A	ENST00000255674.6	-	27	3895	c.3609C>T	c.(3607-3609)gtC>gtT	p.V1203V	RTTN_ENST00000437017.1_Silent_p.V1203V|RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1203					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				GTTGTTGCCTGACAGCAGTCC	0.398																																																	0													128.0	120.0	123.0					18																	67781755		1873	4122	5995	SO:0001819	synonymous_variant	25914			AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.3609C>T	18.37:g.67781755G>A			Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Silent	SNP	superfamily_ARM-type_fold	p.V1203	ENST00000255674.6	37	c.3609	CCDS42443.1	18																																																																																			RTTN	-	NULL		0.398	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTTN	HGNC	protein_coding	OTTHUMT00000442988.1	G	NM_173630		67781755	-1	no_errors	ENST00000255674	ensembl	human	known	70_37	silent	SNP	1.000	A
S1PR2	9294	genome.wustl.edu	37	19	10333441	10333441	+	IGR	SNP	G	G	T			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr19:10333441G>T	ENST00000590320.1	-	0	1173				CTD-2369P2.2_ENST00000317726.4_lincRNA	NM_004230.3	NP_004221.3	O95136	S1PR2_HUMAN	sphingosine-1-phosphate receptor 2						activation of MAPK activity (GO:0000187)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|positive regulation of cell proliferation (GO:0008284)|positive regulation of establishment of endothelial barrier (GO:1903142)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|integrin binding (GO:0005178)|lipid binding (GO:0008289)|sphingosine-1-phosphate receptor activity (GO:0038036)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						TCAGGACAGTGGTTCTGTAGT	0.537																																					Pancreas(194;229 3020 15179 45747)												0																																										SO:0001628	intergenic_variant	9294			AF034780	CCDS12229.1	19q13	2013-03-13	2008-04-30	2008-04-30	ENSG00000267534	ENSG00000267534		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"""	3169	protein-coding gene	gene with protein product		605111	"""endothelial differentiation, sphingolipid G-protein-coupled receptor, 5"""	EDG5		8087418, 8878560	Standard	NM_004230		Approved	Gpcr13, H218, AGR16	uc002mnl.2	O95136	OTTHUMG00000180399		19.37:g.10333441G>T			Q86UN8	RNA	SNP	-	NULL	ENST00000590320.1	37	NULL	CCDS12229.1	19																																																																																			S1PR2	-	-		0.537	S1PR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	S1PR2	HGNC	protein_coding	OTTHUMT00000451194.1	G	NM_004230		10333441	-1	no_errors	ENST00000317726	ensembl	human	known	70_37	rna	SNP	0.007	T
RYR1	6261	genome.wustl.edu	37	19	39051944	39051944	+	Silent	SNP	C	C	T			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr19:39051944C>T	ENST00000359596.3	+	90	12474	c.12474C>T	c.(12472-12474)cgC>cgT	p.R4158R	RYR1_ENST00000360985.3_Silent_p.R4153R|RYR1_ENST00000355481.4_Silent_p.R4153R			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4158					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	ATGACCCTCGCCTGCACAACT	0.637																																																	0													112.0	84.0	94.0					19																	39051944		2203	4300	6503	SO:0001819	synonymous_variant	6261			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.12474C>T	19.37:g.39051944C>T			Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,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_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif	p.R4158	ENST00000359596.3	37	c.12474	CCDS33011.1	19																																																																																			RYR1	-	NULL		0.637	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	HGNC	protein_coding	OTTHUMT00000462137.1	C			39051944	+1	no_errors	ENST00000359596	ensembl	human	known	70_37	silent	SNP	1.000	T
RYR1	6261	genome.wustl.edu	37	19	39051944	39051944	+	Silent	SNP	C	C	T			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr19:39051944C>T	ENST00000359596.3	+	90	12474	c.12474C>T	c.(12472-12474)cgC>cgT	p.R4158R	RYR1_ENST00000360985.3_Silent_p.R4153R|RYR1_ENST00000355481.4_Silent_p.R4153R			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4158					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	ATGACCCTCGCCTGCACAACT	0.637																																																	0													112.0	84.0	94.0					19																	39051944		2203	4300	6503	SO:0001819	synonymous_variant	6261			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.12474C>T	19.37:g.39051944C>T			Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,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_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif	p.R4158	ENST00000359596.3	37	c.12474	CCDS33011.1	19																																																																																			RYR1	-	NULL		0.637	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	HGNC	protein_coding	OTTHUMT00000462137.1	C			39051944	+1	no_errors	ENST00000359596	ensembl	human	known	70_37	silent	SNP	1.000	T
SAA3P	6290	genome.wustl.edu	37	11	18134753	18134753	+	RNA	SNP	C	C	A			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr11:18134753C>A	ENST00000534768.1	-	0	228					NR_026576.1				serum amyloid A3 pseudogene											lung(2)	2						TCATAGTTCCCCCAAGCATGG	0.448																																																	0																																												6290			S73444		11p15.1	2014-06-05			ENSG00000166787	ENSG00000166787			10515	pseudogene	pseudogene				SAA3		8325654, 2558975	Standard	NR_026576		Approved		uc001mnt.3		OTTHUMG00000166433		11.37:g.18134753C>A				RNA	SNP	-	NULL	ENST00000534768.1	37	NULL		11																																																																																			SAA3P	-	-		0.448	SAA3P-002	KNOWN	basic	processed_transcript	SAA3P	HGNC	pseudogene	OTTHUMT00000389765.1	C			18134753	-1	no_errors	ENST00000534768	ensembl	human	known	70_37	rna	SNP	1.000	A
SEC24C	9632	genome.wustl.edu	37	10	75523302	75523302	+	Nonsense_Mutation	SNP	G	G	T			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr10:75523302G>T	ENST00000339365.2	+	8	1204	c.1042G>T	c.(1042-1044)Gga>Tga	p.G348*	SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000546025.1_Intron|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000411652.2_Nonsense_Mutation_p.G229*|SEC24C_ENST00000345254.4_Nonsense_Mutation_p.G348*	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	348					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					ATTTGTTACTGGAGTACGGGG	0.483																																																	0													82.0	81.0	81.0					10																	75523302		2203	4300	6503	SO:0001587	stop_gained	9632			D38555	CCDS7332.1	10q22	2013-10-21	2013-10-21		ENSG00000176986	ENSG00000176986			10705	protein-coding gene	gene with protein product		607185	"""SEC24 (S. cerevisiae) related gene family, member C"", ""SEC24 family, member C (S. cerevisiae)"""			10214955, 7584044	Standard	NM_004922		Approved	KIAA0079	uc001jux.3	P53992	OTTHUMG00000018476	ENST00000339365.2:c.1042G>T	10.37:g.75523302G>T	ENSP00000343405:p.Gly348*		B4DZT4|Q8WV25	Nonsense_Mutation	SNP	pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24	p.G348*	ENST00000339365.2	37	c.1042	CCDS7332.1	10	.	.	.	.	.	.	.	.	.	.	G	37	6.106057	0.97286	.	.	ENSG00000176986	ENST00000345254;ENST00000339365;ENST00000411652	.	.	.	5.51	5.51	0.81932	.	0.093445	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	-8.6585	19.614	0.95622	0.0:0.0:1.0:0.0	.	.	.	.	X	348;348;229	.	ENSP00000343405:G348X	G	+	1	0	SEC24C	75193308	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.628000	0.83189	2.873000	0.98535	0.561000	0.74099	GGA	SEC24C	-	NULL		0.483	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC24C	HGNC	protein_coding	OTTHUMT00000048679.1	G			75523302	+1	no_errors	ENST00000339365	ensembl	human	known	70_37	nonsense	SNP	1.000	T
SEPT1	1731	genome.wustl.edu	37	16	30394217	30394217	+	5'Flank	SNP	G	G	T	rs568418692	byFrequency	TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr16:30394217G>T	ENST00000571393.1	-	0	0				SEPT1_ENST00000605106.1_5'Flank|SEPT1_ENST00000321367.3_5'Flank|SEPT1_ENST00000570039.1_5'UTR			Q8WYJ6	SEPT1_HUMAN	septin 1						cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			breast(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)|urinary_tract(1)	24			Colorectal(24;0.193)			TTCCCAggacgggcaaggtgg	0.552																																																	0																																										SO:0001631	upstream_gene_variant	1731			AF308288	CCDS10678.1, CCDS10678.2, CCDS10678.3	16p11.2	2013-01-21		2001-09-10	ENSG00000180096	ENSG00000180096	3.1.5.1	"""Septins"""	2879	protein-coding gene	gene with protein product		612897		DIFF6		8697812	Standard	NM_052838		Approved	PNUTL3	uc002dxy.4	Q8WYJ6	OTTHUMG00000176984		16.37:g.30394217G>T	Exception_encountered		B4DVE6|Q658T1|Q8NEZ1|Q96EL4|Q9H285	RNA	SNP	-	NULL	ENST00000571393.1	37	NULL		16																																																																																			SEPT1	-	-		0.552	SEPT1-201	KNOWN	basic	protein_coding	SEPT1	HGNC	protein_coding		G	NM_052838		30394217	-1	no_errors	ENST00000567783	ensembl	human	known	70_37	rna	SNP	0.002	T
SEPT2	4735	genome.wustl.edu	37	2	242265494	242265495	+	Frame_Shift_Ins	INS	-	-	A			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr2:242265494_242265495insA	ENST00000391973.2	+	3	624_625	c.96_97insA	c.(97-99)aaafs	p.K33fs	SEPT2_ENST00000391971.2_Frame_Shift_Ins_p.K33fs|SEPT2_ENST00000401990.1_Frame_Shift_Ins_p.K33fs|SEPT2_ENST00000407971.1_5'UTR|SEPT2_ENST00000402092.2_Frame_Shift_Ins_p.K33fs|SEPT2_ENST00000360051.3_Frame_Shift_Ins_p.K33fs	NM_006155.1	NP_006146.1	Q15019	SEPT2_HUMAN	septin 2	33					cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|neuron projection development (GO:0031175)|regulation of L-glutamate transport (GO:0002036)|regulation of protein localization (GO:0032880)|smoothened signaling pathway (GO:0007224)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|ciliary membrane (GO:0060170)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|exocyst (GO:0000145)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|septin complex (GO:0031105)|synapse (GO:0045202)	enzyme regulator activity (GO:0030234)|GTP binding (GO:0005525)			central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12		all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889)		GAAAATCAGTGAAAAAAGGTTT	0.366																																																	0																																										SO:0001589	frameshift_variant	4735			D28540	CCDS2548.1, CCDS63195.1, CCDS74682.1	2q37.3	2013-01-21	2005-01-11	2005-01-12	ENSG00000168385	ENSG00000168385		"""Septins"""	7729	protein-coding gene	gene with protein product		601506	"""neural precursor cell expressed, developmentally down-regulated 5"""	DIFF6, NEDD5		8697812	Standard	XM_005247011		Approved	KIAA0158, hNedd5, Pnutl3	uc002wbd.3	Q15019	OTTHUMG00000133394	ENST00000391973.2:c.102dupA	2.37:g.242265500_242265500dupA	ENSP00000375834:p.Lys33fs		B4DGE8|Q14132|Q53QU3|Q8IUK9|Q96CB0	Frame_Shift_Ins	INS	pfam_Cell_div_GTP-bd,pirsf_Septin,prints_Septin2	p.G34fs	ENST00000391973.2	37	c.96_97	CCDS2548.1	2																																																																																			SEPT2	-	pfam_Cell_div_GTP-bd,pirsf_Septin		0.366	SEPT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SEPT2	HGNC	protein_coding	OTTHUMT00000323177.3	-	NM_006155		242265495	+1	no_errors	ENST00000360051	ensembl	human	known	70_37	frame_shift_ins	INS	0.999:1.000	A
SEPT2	4735	genome.wustl.edu	37	2	242265494	242265495	+	Frame_Shift_Ins	INS	-	-	A			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr2:242265494_242265495insA	ENST00000391973.2	+	3	624_625	c.96_97insA	c.(97-99)aaafs	p.K33fs	SEPT2_ENST00000391971.2_Frame_Shift_Ins_p.K33fs|SEPT2_ENST00000401990.1_Frame_Shift_Ins_p.K33fs|SEPT2_ENST00000407971.1_5'UTR|SEPT2_ENST00000402092.2_Frame_Shift_Ins_p.K33fs|SEPT2_ENST00000360051.3_Frame_Shift_Ins_p.K33fs	NM_006155.1	NP_006146.1	Q15019	SEPT2_HUMAN	septin 2	33					cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|neuron projection development (GO:0031175)|regulation of L-glutamate transport (GO:0002036)|regulation of protein localization (GO:0032880)|smoothened signaling pathway (GO:0007224)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|ciliary membrane (GO:0060170)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|exocyst (GO:0000145)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|septin complex (GO:0031105)|synapse (GO:0045202)	enzyme regulator activity (GO:0030234)|GTP binding (GO:0005525)			central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12		all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889)		GAAAATCAGTGAAAAAAGGTTT	0.366																																																	0																																										SO:0001589	frameshift_variant	4735			D28540	CCDS2548.1, CCDS63195.1, CCDS74682.1	2q37.3	2013-01-21	2005-01-11	2005-01-12	ENSG00000168385	ENSG00000168385		"""Septins"""	7729	protein-coding gene	gene with protein product		601506	"""neural precursor cell expressed, developmentally down-regulated 5"""	DIFF6, NEDD5		8697812	Standard	XM_005247011		Approved	KIAA0158, hNedd5, Pnutl3	uc002wbd.3	Q15019	OTTHUMG00000133394	ENST00000391973.2:c.102dupA	2.37:g.242265500_242265500dupA	ENSP00000375834:p.Lys33fs		B4DGE8|Q14132|Q53QU3|Q8IUK9|Q96CB0	Frame_Shift_Ins	INS	pfam_Cell_div_GTP-bd,pirsf_Septin,prints_Septin2	p.G34fs	ENST00000391973.2	37	c.96_97	CCDS2548.1	2																																																																																			SEPT2	-	pfam_Cell_div_GTP-bd,pirsf_Septin		0.366	SEPT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SEPT2	HGNC	protein_coding	OTTHUMT00000323177.3	-	NM_006155		242265495	+1	no_errors	ENST00000360051	ensembl	human	known	70_37	frame_shift_ins	INS	0.999:1.000	A
SFXN4	119559	genome.wustl.edu	37	10	120916222	120916222	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr10:120916222C>A	ENST00000355697.2	-	10	603	c.584G>T	c.(583-585)tGg>tTg	p.W195L	SFXN4_ENST00000461438.1_5'UTR|SFXN4_ENST00000330036.6_Missense_Mutation_p.W186L	NM_213649.1	NP_998814.1	Q6P4A7	SFXN4_HUMAN	sideroflexin 4	195					iron ion homeostasis (GO:0055072)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)	cation transmembrane transporter activity (GO:0008324)			central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	11		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0261)		TCTTTTAATCCAAGGGCCAGT	0.473																																																	0													54.0	48.0	50.0					10																	120916222		2203	4300	6503	SO:0001583	missense	119559				CCDS7610.1	10q26.11	2006-03-13			ENSG00000183605	ENSG00000183605		"""Sideroflexins"""	16088	protein-coding gene	gene with protein product		615564				14756423	Standard	NM_213649		Approved		uc001leb.3	Q6P4A7	OTTHUMG00000019147	ENST00000355697.2:c.584G>T	10.37:g.120916222C>A	ENSP00000347924:p.Trp195Leu		Q6WSU4|Q86TD9	Missense_Mutation	SNP	pfam_Mtc	p.W195L	ENST00000355697.2	37	c.584	CCDS7610.1	10	.	.	.	.	.	.	.	.	.	.	C	0.097	-1.157660	0.01686	.	.	ENSG00000183605	ENST00000355697;ENST00000330036;ENST00000392875;ENST00000369131	T;T;T	0.17691	2.26;2.26;2.26	3.82	-3.54	0.04653	.	1.050190	0.07510	N	0.908746	T	0.06872	0.0175	N	0.04203	-0.255	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43829	-0.9367	10	0.02654	T	1	-0.9095	14.2016	0.65707	0.252:0.748:0.0:0.0	.	195	Q6P4A7	SFXN4_HUMAN	L	195;186;78;79	ENSP00000347924:W195L;ENSP00000333200:W186L;ENSP00000358127:W79L	ENSP00000333200:W186L	W	-	2	0	SFXN4	120906212	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.281000	0.18810	-0.641000	0.05487	-0.266000	0.10368	TGG	SFXN4	-	pfam_Mtc		0.473	SFXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFXN4	HGNC	protein_coding	OTTHUMT00000050642.3	C	XM_058406		120916222	-1	no_errors	ENST00000355697	ensembl	human	known	70_37	missense	SNP	0.000	A
SLC25A42	284439	genome.wustl.edu	37	19	19221580	19221580	+	Silent	SNP	C	C	G			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr19:19221580C>G	ENST00000318596.7	+	8	1003	c.852C>G	c.(850-852)ctC>ctG	p.L284L		NM_178526.4	NP_848621.2	Q86VD7	S2542_HUMAN	solute carrier family 25, member 42	284					ADP transport (GO:0015866)|AMP transport (GO:0080121)|ATP transport (GO:0015867)|coenzyme A transmembrane transport (GO:0035349)|metabolic process (GO:0008152)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	adenosine-diphosphatase activity (GO:0043262)|ADP transmembrane transporter activity (GO:0015217)|AMP transmembrane transporter activity (GO:0080122)|ATP transmembrane transporter activity (GO:0005347)|coenzyme A transmembrane transporter activity (GO:0015228)			cervix(1)|large_intestine(2)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)			TGCGCGGCCTCTACAAAGGCT	0.687																																																	0													44.0	34.0	37.0					19																	19221580		2203	4300	6503	SO:0001819	synonymous_variant	284439				CCDS32966.1	19p13.11	2013-05-22			ENSG00000181035	ENSG00000181035		"""Solute carriers"""	28380	protein-coding gene	gene with protein product		610823				16949250, 19429682	Standard	NM_178526		Approved	MGC26694	uc002nlf.3	Q86VD7		ENST00000318596.7:c.852C>G	19.37:g.19221580C>G			D2T2J5|O14553|O43378	Silent	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Graves_DC	p.L284	ENST00000318596.7	37	c.852	CCDS32966.1	19																																																																																			SLC25A42	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Graves_DC		0.687	SLC25A42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A42	HGNC	protein_coding	OTTHUMT00000465931.1	C	NM_178526		19221580	+1	no_errors	ENST00000318596	ensembl	human	known	70_37	silent	SNP	0.994	G
SLC25A42	284439	genome.wustl.edu	37	19	19221580	19221580	+	Silent	SNP	C	C	G			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr19:19221580C>G	ENST00000318596.7	+	8	1003	c.852C>G	c.(850-852)ctC>ctG	p.L284L		NM_178526.4	NP_848621.2	Q86VD7	S2542_HUMAN	solute carrier family 25, member 42	284					ADP transport (GO:0015866)|AMP transport (GO:0080121)|ATP transport (GO:0015867)|coenzyme A transmembrane transport (GO:0035349)|metabolic process (GO:0008152)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	adenosine-diphosphatase activity (GO:0043262)|ADP transmembrane transporter activity (GO:0015217)|AMP transmembrane transporter activity (GO:0080122)|ATP transmembrane transporter activity (GO:0005347)|coenzyme A transmembrane transporter activity (GO:0015228)			cervix(1)|large_intestine(2)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)			TGCGCGGCCTCTACAAAGGCT	0.687																																																	0													44.0	34.0	37.0					19																	19221580		2203	4300	6503	SO:0001819	synonymous_variant	284439				CCDS32966.1	19p13.11	2013-05-22			ENSG00000181035	ENSG00000181035		"""Solute carriers"""	28380	protein-coding gene	gene with protein product		610823				16949250, 19429682	Standard	NM_178526		Approved	MGC26694	uc002nlf.3	Q86VD7		ENST00000318596.7:c.852C>G	19.37:g.19221580C>G			D2T2J5|O14553|O43378	Silent	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Graves_DC	p.L284	ENST00000318596.7	37	c.852	CCDS32966.1	19																																																																																			SLC25A42	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Graves_DC		0.687	SLC25A42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A42	HGNC	protein_coding	OTTHUMT00000465931.1	C	NM_178526		19221580	+1	no_errors	ENST00000318596	ensembl	human	known	70_37	silent	SNP	0.994	G
SLC25A46	91137	genome.wustl.edu	37	5	110089020	110089020	+	Intron	SNP	A	A	T			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr5:110089020A>T	ENST00000355943.3	+	6	689				SLC25A46_ENST00000504098.1_Intron|SLC25A46_ENST00000513706.1_3'UTR|SLC25A46_ENST00000447245.2_Intron|SLC25A46_ENST00000509442.2_Intron|SLC25A46_ENST00000513807.1_Intron|SLC25A46_ENST00000509432.1_5'Flank	NM_138773.1	NP_620128.1	Q96AG3	S2546_HUMAN	solute carrier family 25, member 46						transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10		all_cancers(142;0.00203)|all_epithelial(76;4.52e-05)|Prostate(80;0.0115)|Colorectal(57;0.0676)|Ovarian(225;0.156)		OV - Ovarian serous cystadenocarcinoma(64;2.58e-09)|Epithelial(69;7.29e-08)|all cancers(49;9.35e-06)|COAD - Colon adenocarcinoma(37;0.211)		ttttTTTTTTAATTAGGATAG	0.323																																																	0																																										SO:0001627	intron_variant	91137			BC017169	CCDS4100.1	5q22.1	2013-05-22			ENSG00000164209	ENSG00000164209		"""Solute carriers"""	25198	protein-coding gene	gene with protein product		610826				1651562, 1651563, 16949250	Standard	NM_138773		Approved		uc003koz.3	Q96AG3	OTTHUMG00000128794	ENST00000355943.3:c.564-2145A>T	5.37:g.110089020A>T			A8K2F2|B3KRE6|B4DTA3|D3DSZ6|D6R9W7|Q04197	RNA	SNP	-	NULL	ENST00000355943.3	37	NULL	CCDS4100.1	5																																																																																			SLC25A46	-	-		0.323	SLC25A46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A46	HGNC	protein_coding	OTTHUMT00000250721.5	A	NM_138773		110089020	+1	no_errors	ENST00000513706	ensembl	human	putative	70_37	rna	SNP	0.001	T
SLC34A3	142680	genome.wustl.edu	37	9	140126613	140126613	+	Splice_Site	SNP	G	G	A			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr9:140126613G>A	ENST00000538474.1	+	3	399	c.175G>A	c.(175-177)Gag>Aag	p.E59K	SLC34A3_ENST00000361134.2_Splice_Site_p.E59K	NM_001177316.1|NM_001177317.1	NP_001170787|NP_001170788	Q8N130	NPT2C_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 3	59					cellular phosphate ion homeostasis (GO:0030643)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)			kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		GCCCTGGAAAGGTGGGTCTGG	0.647																																																	0													72.0	77.0	75.0					9																	140126613		2203	4300	6503	SO:0001630	splice_region_variant	142680			AB055000	CCDS7038.1	9q34.3	2013-07-17	2013-07-17		ENSG00000198569	ENSG00000198569		"""Solute carriers"""	20305	protein-coding gene	gene with protein product		609826	"""solute carrier family 34 (sodium phosphate), member 3"""			11880379, 16358215, 16358214	Standard	NM_080877		Approved	NPTIIc, FLJ38680	uc004cmf.1	Q8N130	OTTHUMG00000131780	ENST00000538474.1:c.175+1G>A	9.37:g.140126613G>A			A2BFA1	Missense_Mutation	SNP	pfam_Na/Pi_transpt,tigrfam_Na/Pi_transpt	p.E59K	ENST00000538474.1	37	c.175	CCDS7038.1	9	.	.	.	.	.	.	.	.	.	.	g	18.21	3.573219	0.65765	.	.	ENSG00000198569	ENST00000538474;ENST00000361134	T;T	0.35789	1.29;1.29	3.58	3.58	0.41010	.	0.116260	0.35436	U	0.003220	T	0.38746	0.1052	M	0.76170	2.325	0.80722	D	1	P	0.40970	0.734	B	0.37731	0.257	T	0.50734	-0.8793	10	0.72032	D	0.01	-14.7007	12.7098	0.57083	0.0:0.0:1.0:0.0	.	59	Q8N130	NPT2C_HUMAN	K	59	ENSP00000442397:E59K;ENSP00000355353:E59K	ENSP00000355353:E59K	E	+	1	0	SLC34A3	139246434	1.000000	0.71417	0.988000	0.46212	0.649000	0.38597	3.989000	0.56958	1.823000	0.53134	0.306000	0.20318	GAG	SLC34A3	-	NULL		0.647	SLC34A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC34A3	HGNC	protein_coding	OTTHUMT00000254712.1	G	NM_080877	Missense_Mutation	140126613	+1	no_errors	ENST00000361134	ensembl	human	known	70_37	missense	SNP	1.000	A
SLC34A3	142680	genome.wustl.edu	37	9	140126613	140126613	+	Splice_Site	SNP	G	G	A			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr9:140126613G>A	ENST00000538474.1	+	3	399	c.175G>A	c.(175-177)Gag>Aag	p.E59K	SLC34A3_ENST00000361134.2_Splice_Site_p.E59K	NM_001177316.1|NM_001177317.1	NP_001170787|NP_001170788	Q8N130	NPT2C_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 3	59					cellular phosphate ion homeostasis (GO:0030643)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)			kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		GCCCTGGAAAGGTGGGTCTGG	0.647																																																	0													72.0	77.0	75.0					9																	140126613		2203	4300	6503	SO:0001630	splice_region_variant	142680			AB055000	CCDS7038.1	9q34.3	2013-07-17	2013-07-17		ENSG00000198569	ENSG00000198569		"""Solute carriers"""	20305	protein-coding gene	gene with protein product		609826	"""solute carrier family 34 (sodium phosphate), member 3"""			11880379, 16358215, 16358214	Standard	NM_080877		Approved	NPTIIc, FLJ38680	uc004cmf.1	Q8N130	OTTHUMG00000131780	ENST00000538474.1:c.175+1G>A	9.37:g.140126613G>A			A2BFA1	Missense_Mutation	SNP	pfam_Na/Pi_transpt,tigrfam_Na/Pi_transpt	p.E59K	ENST00000538474.1	37	c.175	CCDS7038.1	9	.	.	.	.	.	.	.	.	.	.	g	18.21	3.573219	0.65765	.	.	ENSG00000198569	ENST00000538474;ENST00000361134	T;T	0.35789	1.29;1.29	3.58	3.58	0.41010	.	0.116260	0.35436	U	0.003220	T	0.38746	0.1052	M	0.76170	2.325	0.80722	D	1	P	0.40970	0.734	B	0.37731	0.257	T	0.50734	-0.8793	10	0.72032	D	0.01	-14.7007	12.7098	0.57083	0.0:0.0:1.0:0.0	.	59	Q8N130	NPT2C_HUMAN	K	59	ENSP00000442397:E59K;ENSP00000355353:E59K	ENSP00000355353:E59K	E	+	1	0	SLC34A3	139246434	1.000000	0.71417	0.988000	0.46212	0.649000	0.38597	3.989000	0.56958	1.823000	0.53134	0.306000	0.20318	GAG	SLC34A3	-	NULL		0.647	SLC34A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC34A3	HGNC	protein_coding	OTTHUMT00000254712.1	G	NM_080877	Missense_Mutation	140126613	+1	no_errors	ENST00000361134	ensembl	human	known	70_37	missense	SNP	1.000	A
SLC35A2	7355	genome.wustl.edu	37	X	48762065	48762065	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chrX:48762065G>A	ENST00000247138.5	-	4	1124	c.1121C>T	c.(1120-1122)tCt>tTt	p.S374F	SLC35A2_ENST00000413561.2_Missense_Mutation_p.S313F|SLC35A2_ENST00000452555.2_Missense_Mutation_p.S402F|SLC35A2_ENST00000445167.2_Silent_p.V177V|SLC35A2_ENST00000376515.3_Silent_p.V153V|SLC35A2_ENST00000376529.3_Silent_p.V177V|SLC35A2_ENST00000376521.1_Missense_Mutation_p.S374F	NM_005660.1	NP_005651.1	P78381	S35A2_HUMAN	solute carrier family 35 (UDP-galactose transporter), member A2	374					galactose metabolic process (GO:0006012)|transmembrane transport (GO:0055085)|UDP-galactose transport (GO:0015785)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	sugar:proton symporter activity (GO:0005351)|UDP-galactose transmembrane transporter activity (GO:0005459)			breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(2)	15						ACGGTGGGAAGACAGCTGCGG	0.662																																																	0													44.0	36.0	39.0					X																	48762065		2203	4300	6503	SO:0001583	missense	7355			D88146	CCDS14311.1, CCDS35247.1, CCDS43937.1, CCDS65253.1, CCDS65254.1, CCDS75973.1, CCDS75974.1, CCDS75975.1	Xp11.23-p11.22	2013-05-22			ENSG00000102100	ENSG00000102100		"""Solute carriers"""	11022	protein-coding gene	gene with protein product		314375	"""solute carrier family 35 (UDP-galactose transporter), member 2"""	UGALT		8128316	Standard	NM_001042498		Approved	UGAT, UGT, UGT1, UGT2, UGTL	uc004dlo.1	P78381	OTTHUMG00000024129	ENST00000247138.5:c.1121C>T	X.37:g.48762065G>A	ENSP00000247138:p.Ser374Phe		A8K2L9|A8K9V1|B4DE11|B4DPT2|E7EW45|Q8IV21|Q92553	Missense_Mutation	SNP	pfam_Nuc_sug_transpt,pfam_UAA,pfam_DMT,pirsf_UDP/CMP-sugar_transptr,tigrfam_UDPgal_transpt	p.S402F	ENST00000247138.5	37	c.1205	CCDS14311.1	X	.	.	.	.	.	.	.	.	.	.	G	13.40	2.225492	0.39300	.	.	ENSG00000102100	ENST00000247138;ENST00000376521;ENST00000413561;ENST00000452555	T;T;T;T	0.47528	0.84;0.85;0.85;0.85	3.67	3.67	0.42095	.	1.139240	0.06548	N	0.744548	T	0.50854	0.1640	N	0.14661	0.345	0.31994	N	0.604305	P;P;P;P;P	0.45531	0.842;0.842;0.86;0.752;0.637	B;P;P;B;B	0.57846	0.047;0.543;0.828;0.102;0.047	T	0.55328	-0.8158	10	0.72032	D	0.01	-0.4451	12.0959	0.53755	0.0:0.0:1.0:0.0	.	313;402;387;374;374	B4DE11;E7EW45;B4DE15;P78381-2;P78381	.;.;.;.;S35A2_HUMAN	F	374;374;313;402	ENSP00000247138:S374F;ENSP00000365704:S374F;ENSP00000393233:S313F;ENSP00000416002:S402F	ENSP00000247138:S374F	S	-	2	0	SLC35A2	48647009	1.000000	0.71417	1.000000	0.80357	0.632000	0.37999	2.172000	0.42463	2.068000	0.61886	0.600000	0.82982	TCT	SLC35A2	-	NULL		0.662	SLC35A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC35A2	HGNC	protein_coding	OTTHUMT00000060790.1	G	NM_005660		48762065	-1	no_errors	ENST00000452555	ensembl	human	known	70_37	missense	SNP	1.000	A
SMC3	9126	genome.wustl.edu	37	10	112349666	112349666	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr10:112349666G>A	ENST00000361804.4	+	15	1552	c.1426G>A	c.(1426-1428)Gag>Aag	p.E476K		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	476					DNA repair (GO:0006281)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|mitotic spindle organization (GO:0007052)|negative regulation of DNA endoreduplication (GO:0032876)|regulation of DNA replication (GO:0006275)|signal transduction (GO:0007165)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	basement membrane (GO:0005604)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cohesin core heterodimer (GO:0008280)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear matrix (GO:0016363)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|dynein binding (GO:0045502)|microtubule motor activity (GO:0003777)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		GTGGAGAGAAGAGAATGCAGA	0.358																																																	0													84.0	87.0	86.0					10																	112349666		2203	4300	6503	SO:0001583	missense	9126			AF020043	CCDS31285.1	10q25	2014-09-17	2006-07-06	2006-07-06	ENSG00000108055	ENSG00000108055		"""Structural maintenance of chromosomes proteins"", ""Proteoglycans / Extracellular Matrix : Other"""	2468	protein-coding gene	gene with protein product	"""bamacan proteoglycan"""	606062	"""chondroitin sulfate proteoglycan 6 (bamacan)"""	CSPG6		9506951, 10358101	Standard	NM_005445		Approved	HCAP, BAM, SMC3L1, bamacan	uc001kze.3	Q9UQE7	OTTHUMG00000019042	ENST00000361804.4:c.1426G>A	10.37:g.112349666G>A	ENSP00000354720:p.Glu476Lys		A8K156|O60464|Q5T482	Missense_Mutation	SNP	pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,smart_SMC_hinge	p.E476K	ENST00000361804.4	37	c.1426	CCDS31285.1	10	.	.	.	.	.	.	.	.	.	.	G	35	5.474603	0.96291	.	.	ENSG00000108055	ENST00000361804	T	0.77489	-1.1	5.97	5.97	0.96955	SMCs flexible hinge (1);RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	D	0.90235	0.6947	M	0.92026	3.265	0.80722	D	1	D	0.69078	0.997	D	0.66084	0.941	D	0.88385	0.3004	10	0.29301	T	0.29	.	20.4324	0.99085	0.0:0.0:1.0:0.0	.	476	Q9UQE7	SMC3_HUMAN	K	476	ENSP00000354720:E476K	ENSP00000354720:E476K	E	+	1	0	SMC3	112339656	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.452000	0.97615	2.833000	0.97629	0.585000	0.79938	GAG	SMC3	-	pfam_RecF/RecN/SMC,superfamily_SMC_hinge		0.358	SMC3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	SMC3	HGNC	protein_coding	OTTHUMT00000050337.1	G	NM_005445		112349666	+1	no_errors	ENST00000361804	ensembl	human	known	70_37	missense	SNP	1.000	A
SMC3	9126	genome.wustl.edu	37	10	112349666	112349666	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr10:112349666G>A	ENST00000361804.4	+	15	1552	c.1426G>A	c.(1426-1428)Gag>Aag	p.E476K		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	476					DNA repair (GO:0006281)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|mitotic spindle organization (GO:0007052)|negative regulation of DNA endoreduplication (GO:0032876)|regulation of DNA replication (GO:0006275)|signal transduction (GO:0007165)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	basement membrane (GO:0005604)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cohesin core heterodimer (GO:0008280)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear matrix (GO:0016363)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|dynein binding (GO:0045502)|microtubule motor activity (GO:0003777)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		GTGGAGAGAAGAGAATGCAGA	0.358																																																	0													84.0	87.0	86.0					10																	112349666		2203	4300	6503	SO:0001583	missense	9126			AF020043	CCDS31285.1	10q25	2014-09-17	2006-07-06	2006-07-06	ENSG00000108055	ENSG00000108055		"""Structural maintenance of chromosomes proteins"", ""Proteoglycans / Extracellular Matrix : Other"""	2468	protein-coding gene	gene with protein product	"""bamacan proteoglycan"""	606062	"""chondroitin sulfate proteoglycan 6 (bamacan)"""	CSPG6		9506951, 10358101	Standard	NM_005445		Approved	HCAP, BAM, SMC3L1, bamacan	uc001kze.3	Q9UQE7	OTTHUMG00000019042	ENST00000361804.4:c.1426G>A	10.37:g.112349666G>A	ENSP00000354720:p.Glu476Lys		A8K156|O60464|Q5T482	Missense_Mutation	SNP	pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,smart_SMC_hinge	p.E476K	ENST00000361804.4	37	c.1426	CCDS31285.1	10	.	.	.	.	.	.	.	.	.	.	G	35	5.474603	0.96291	.	.	ENSG00000108055	ENST00000361804	T	0.77489	-1.1	5.97	5.97	0.96955	SMCs flexible hinge (1);RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	D	0.90235	0.6947	M	0.92026	3.265	0.80722	D	1	D	0.69078	0.997	D	0.66084	0.941	D	0.88385	0.3004	10	0.29301	T	0.29	.	20.4324	0.99085	0.0:0.0:1.0:0.0	.	476	Q9UQE7	SMC3_HUMAN	K	476	ENSP00000354720:E476K	ENSP00000354720:E476K	E	+	1	0	SMC3	112339656	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.452000	0.97615	2.833000	0.97629	0.585000	0.79938	GAG	SMC3	-	pfam_RecF/RecN/SMC,superfamily_SMC_hinge		0.358	SMC3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	SMC3	HGNC	protein_coding	OTTHUMT00000050337.1	G	NM_005445		112349666	+1	no_errors	ENST00000361804	ensembl	human	known	70_37	missense	SNP	1.000	A
SMG6	23293	genome.wustl.edu	37	17	2139835	2139835	+	Silent	SNP	C	C	G	rs151227752		TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr17:2139835C>G	ENST00000263073.6	-	10	2870	c.2820G>C	c.(2818-2820)ctG>ctC	p.L940L	SMG6_ENST00000354901.4_Silent_p.L32L|AL450226.2_ENST00000414776.1_RNA|SMG6_ENST00000536871.2_Silent_p.L32L|SMG6_ENST00000544865.1_Silent_p.L909L	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	940					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TCATAAGCTGCAGCATGCGGG	0.468																																					Melanoma(59;28 1088 11621 25887 46638 50814)												0													170.0	146.0	154.0					17																	2139835		2203	4300	6503	SO:0001819	synonymous_variant	23293			AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog A (S. cerevisiae)"""	610963	"""chromosome 17 open reading frame 31"", ""smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.2820G>C	17.37:g.2139835C>G			B7Z874|O94837|Q86VH6|Q9UF60	Silent	SNP	pfam_EST1,smart_PINc_nuc-bd	p.L940	ENST00000263073.6	37	c.2820	CCDS11016.1	17																																																																																			SMG6	-	NULL		0.468	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMG6	HGNC	protein_coding	OTTHUMT00000437826.3	C			2139835	-1	no_errors	ENST00000263073	ensembl	human	known	70_37	silent	SNP	0.994	G
SMG6	23293	genome.wustl.edu	37	17	2139835	2139835	+	Silent	SNP	C	C	G	rs151227752		TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr17:2139835C>G	ENST00000263073.6	-	10	2870	c.2820G>C	c.(2818-2820)ctG>ctC	p.L940L	SMG6_ENST00000354901.4_Silent_p.L32L|AL450226.2_ENST00000414776.1_RNA|SMG6_ENST00000536871.2_Silent_p.L32L|SMG6_ENST00000544865.1_Silent_p.L909L	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	940					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TCATAAGCTGCAGCATGCGGG	0.468																																					Melanoma(59;28 1088 11621 25887 46638 50814)												0													170.0	146.0	154.0					17																	2139835		2203	4300	6503	SO:0001819	synonymous_variant	23293			AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog A (S. cerevisiae)"""	610963	"""chromosome 17 open reading frame 31"", ""smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.2820G>C	17.37:g.2139835C>G			B7Z874|O94837|Q86VH6|Q9UF60	Silent	SNP	pfam_EST1,smart_PINc_nuc-bd	p.L940	ENST00000263073.6	37	c.2820	CCDS11016.1	17																																																																																			SMG6	-	NULL		0.468	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMG6	HGNC	protein_coding	OTTHUMT00000437826.3	C			2139835	-1	no_errors	ENST00000263073	ensembl	human	known	70_37	silent	SNP	0.994	G
SMPD3	55512	genome.wustl.edu	37	16	68398472	68398472	+	Intron	SNP	C	C	T			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr16:68398472C>T	ENST00000219334.5	-	5	2159				SMPD3_ENST00000563226.1_Intron|SMPD3_ENST00000568373.1_Intron|SMPD3_ENST00000566009.1_5'UTR	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN	sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)						cell cycle (GO:0007049)|glycosphingolipid metabolic process (GO:0006687)|hematopoietic progenitor cell differentiation (GO:0002244)|peptide hormone secretion (GO:0030072)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)	Golgi cis cisterna (GO:0000137)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	CTAGGCAGAGCGTGGGCTCTT	0.522																																																	0																																										SO:0001627	intron_variant	55512			AJ250460	CCDS10867.1	16q22.1	2008-02-05			ENSG00000103056	ENSG00000103056			14240	protein-coding gene	gene with protein product		605777				10823942	Standard	NM_018667		Approved	NSMASE2	uc002ewa.3	Q9NY59	OTTHUMG00000137559	ENST00000219334.5:c.1555+181G>A	16.37:g.68398472C>T			B7ZL82|Q2M1S8	RNA	SNP	-	NULL	ENST00000219334.5	37	NULL	CCDS10867.1	16																																																																																			SMPD3	-	-		0.522	SMPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMPD3	HGNC	protein_coding	OTTHUMT00000268895.3	C	NM_018667		68398472	-1	no_errors	ENST00000566009	ensembl	human	known	70_37	rna	SNP	0.000	T
SNTA1	6640	genome.wustl.edu	37	20	31996362	31996362	+	Missense_Mutation	SNP	A	A	T			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr20:31996362A>T	ENST00000217381.2	-	8	1740	c.1469T>A	c.(1468-1470)aTc>aAc	p.I490N		NM_003098.2	NP_003089.1	Q13424	SNTA1_HUMAN	syntrophin, alpha 1	490	Calmodulin-binding. {ECO:0000250}.|SU.				muscle contraction (GO:0006936)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|neuromuscular junction development (GO:0007528)|regulation of heart rate (GO:0002027)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of vasoconstriction by circulating norepinephrine (GO:0003117)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|ventricular cardiac muscle cell action potential (GO:0086005)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular (GO:0005622)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	ATPase binding (GO:0051117)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)			breast(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(1)	13						GAAGGAGTGGATGATGAAGAC	0.607																																																	0													103.0	92.0	96.0					20																	31996362		2203	4300	6503	SO:0001583	missense	6640			U40571	CCDS13220.1	20q11.2	2014-09-17	2012-06-15		ENSG00000101400	ENSG00000101400			11167	protein-coding gene	gene with protein product	"""pro-TGF-alpha cytoplasmic domain-interacting protein 1"", ""dystrophin-associated protein A1, 59kDa, acidic component"""	601017	"""syntrophin, alpha 1 (dystrophin-associated protein A1, 59kD, acidic component)"""	SNT1		8576247, 8612778	Standard	NM_003098		Approved	TACIP1, LQT12	uc002wzd.1	Q13424	OTTHUMG00000032259	ENST00000217381.2:c.1469T>A	20.37:g.31996362A>T	ENSP00000217381:p.Ile490Asn		A8K7H9|B4DX40|E1P5N1|Q16438	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_Pleckstrin_homology,smart_PDZ,pfscan_PDZ,pfscan_Pleckstrin_homology	p.I490N	ENST00000217381.2	37	c.1469	CCDS13220.1	20	.	.	.	.	.	.	.	.	.	.	A	21.8	4.205693	0.79127	.	.	ENSG00000101400	ENST00000217381	D	0.84223	-1.82	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	D	0.90342	0.6978	L	0.57536	1.79	0.58432	D	0.999996	D;D	0.76494	0.971;0.999	P;D	0.85130	0.603;0.997	D	0.91374	0.5122	10	0.87932	D	0	-11.3227	13.9075	0.63845	1.0:0.0:0.0:0.0	.	415;490	B4DX40;Q13424	.;SNTA1_HUMAN	N	490	ENSP00000217381:I490N	ENSP00000217381:I490N	I	-	2	0	SNTA1	31460023	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.020000	0.93667	1.759000	0.51996	0.460000	0.39030	ATC	SNTA1	-	NULL		0.607	SNTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNTA1	HGNC	protein_coding	OTTHUMT00000078704.2	A	NM_003098		31996362	-1	no_errors	ENST00000217381	ensembl	human	known	70_37	missense	SNP	1.000	T
SNTA1	6640	genome.wustl.edu	37	20	31996362	31996362	+	Missense_Mutation	SNP	A	A	T			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr20:31996362A>T	ENST00000217381.2	-	8	1740	c.1469T>A	c.(1468-1470)aTc>aAc	p.I490N		NM_003098.2	NP_003089.1	Q13424	SNTA1_HUMAN	syntrophin, alpha 1	490	Calmodulin-binding. {ECO:0000250}.|SU.				muscle contraction (GO:0006936)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|neuromuscular junction development (GO:0007528)|regulation of heart rate (GO:0002027)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of vasoconstriction by circulating norepinephrine (GO:0003117)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|ventricular cardiac muscle cell action potential (GO:0086005)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular (GO:0005622)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	ATPase binding (GO:0051117)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)			breast(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(1)	13						GAAGGAGTGGATGATGAAGAC	0.607																																																	0													103.0	92.0	96.0					20																	31996362		2203	4300	6503	SO:0001583	missense	6640			U40571	CCDS13220.1	20q11.2	2014-09-17	2012-06-15		ENSG00000101400	ENSG00000101400			11167	protein-coding gene	gene with protein product	"""pro-TGF-alpha cytoplasmic domain-interacting protein 1"", ""dystrophin-associated protein A1, 59kDa, acidic component"""	601017	"""syntrophin, alpha 1 (dystrophin-associated protein A1, 59kD, acidic component)"""	SNT1		8576247, 8612778	Standard	NM_003098		Approved	TACIP1, LQT12	uc002wzd.1	Q13424	OTTHUMG00000032259	ENST00000217381.2:c.1469T>A	20.37:g.31996362A>T	ENSP00000217381:p.Ile490Asn		A8K7H9|B4DX40|E1P5N1|Q16438	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_Pleckstrin_homology,smart_PDZ,pfscan_PDZ,pfscan_Pleckstrin_homology	p.I490N	ENST00000217381.2	37	c.1469	CCDS13220.1	20	.	.	.	.	.	.	.	.	.	.	A	21.8	4.205693	0.79127	.	.	ENSG00000101400	ENST00000217381	D	0.84223	-1.82	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	D	0.90342	0.6978	L	0.57536	1.79	0.58432	D	0.999996	D;D	0.76494	0.971;0.999	P;D	0.85130	0.603;0.997	D	0.91374	0.5122	10	0.87932	D	0	-11.3227	13.9075	0.63845	1.0:0.0:0.0:0.0	.	415;490	B4DX40;Q13424	.;SNTA1_HUMAN	N	490	ENSP00000217381:I490N	ENSP00000217381:I490N	I	-	2	0	SNTA1	31460023	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.020000	0.93667	1.759000	0.51996	0.460000	0.39030	ATC	SNTA1	-	NULL		0.607	SNTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNTA1	HGNC	protein_coding	OTTHUMT00000078704.2	A	NM_003098		31996362	-1	no_errors	ENST00000217381	ensembl	human	known	70_37	missense	SNP	1.000	T
SNHG11	128439	genome.wustl.edu	37	20	37076969	37076969	+	RNA	SNP	C	C	A			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr20:37076969C>A	ENST00000365032.1	+	0	264				SNORA60_ENST00000362396.1_RNA					small nucleolar RNA host gene 11 (non-protein coding)																		TGTTGGGAACCAGGCTGTGTG	0.517																																																	0																																												128439			AF497716		20q11.23	2012-10-16	2008-09-05	2008-04-16	ENSG00000174365	ENSG00000174365		"""Long non-coding RNAs"""	25046	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 101"""		"""chromosome 20 open reading frame 198"""	C20orf198		12477932	Standard	NR_003239		Approved	LINC00101	uc002xis.1		OTTHUMG00000032449		20.37:g.37076969C>A				RNA	SNP	-	NULL	ENST00000365032.1	37	NULL		20																																																																																			SNHG11	-	-		0.517	SNHG11-201	KNOWN	basic	snoRNA	SNHG11	HGNC	processed_transcript		C	NR_003239		37076969	+1	no_errors	ENST00000400436	ensembl	human	known	70_37	rna	SNP	0.026	A
SPATC1L	84221	genome.wustl.edu	37	21	47581929	47581929	+	Silent	SNP	G	G	A			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr21:47581929G>A	ENST00000291672.5	-	4	1658	c.597C>T	c.(595-597)atC>atT	p.I199I	SPATC1L_ENST00000330205.6_Silent_p.I45I	NM_001142854.1	NP_001136326.1	Q9H0A9	SPC1L_HUMAN	spermatogenesis and centriole associated 1-like	199																	GCTGGAAGGCGATCTCGCCCA	0.687																																																	0													31.0	25.0	27.0					21																	47581929		2187	4293	6480	SO:0001819	synonymous_variant	84221			BC009497	CCDS13732.1, CCDS46653.1	21q22.3	2013-01-21	2012-11-12	2012-11-12	ENSG00000160284	ENSG00000160284			1298	protein-coding gene	gene with protein product	"""speriolin-like protein"""	612412	"""chromosome 21 open reading frame 56"""	C21orf56			Standard	NM_032261		Approved		uc011afu.2	Q9H0A9	OTTHUMG00000090487	ENST00000291672.5:c.597C>T	21.37:g.47581929G>A			B4E323|Q52LS9|Q6FIH5|Q6P0L3|Q9NSE5	Silent	SNP	NULL	p.I199	ENST00000291672.5	37	c.597	CCDS46653.1	21																																																																																			SPATC1L	-	NULL		0.687	SPATC1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATC1L	HGNC	protein_coding	OTTHUMT00000376654.1	G	NM_032261		47581929	-1	no_errors	ENST00000291672	ensembl	human	known	70_37	silent	SNP	0.996	A
SPRED3	399473	genome.wustl.edu	37	19	38886143	38886143	+	Silent	SNP	C	C	T			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr19:38886143C>T	ENST00000338502.4	+	5	694	c.591C>T	c.(589-591)ttC>ttT	p.F197F	AC005789.11_ENST00000588453.1_lincRNA|SPRED3_ENST00000586301.1_Silent_p.F197F|SPRED3_ENST00000587013.1_Silent_p.F241F	NM_001042522.2	NP_001035987.1	Q2MJR0	SPRE3_HUMAN	sprouty-related, EVH1 domain containing 3	197	KBD. {ECO:0000255|PROSITE- ProRule:PRU00821}.				inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)	plasma membrane (GO:0005886)				central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1)	9	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TTCTACCGTTCACGGGGATTC	0.652																																																	0													32.0	30.0	31.0					19																	38886143		1849	4076	5925	SO:0001819	synonymous_variant	399473				CCDS42560.1	19q13	2007-10-05				ENSG00000188766			31041	protein-coding gene	gene with protein product		609293				14618415	Standard	NM_001042522		Approved		uc002oim.4	Q2MJR0		ENST00000338502.4:c.591C>T	19.37:g.38886143C>T			Q2MJR1	Silent	SNP	pfam_Sprouty,pfam_EVH1,smart_EVH1,pfscan_EVH1	p.F197	ENST00000338502.4	37	c.591	CCDS42560.1	19																																																																																			SPRED3	-	NULL		0.652	SPRED3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPRED3	HGNC	protein_coding	OTTHUMT00000459216.1	C	XM_351191		38886143	+1	no_errors	ENST00000338502	ensembl	human	known	70_37	silent	SNP	1.000	T
SPTBN4	57731	genome.wustl.edu	37	19	41066134	41066134	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr19:41066134G>T	ENST00000352632.3	+	27	5826	c.5740G>T	c.(5740-5742)Gct>Tct	p.A1914S	SPTBN4_ENST00000598249.1_Missense_Mutation_p.A1914S|SPTBN4_ENST00000392025.1_Missense_Mutation_p.A657S|SPTBN4_ENST00000595535.1_Missense_Mutation_p.A1914S|SPTBN4_ENST00000338932.3_Missense_Mutation_p.A1914S|SPTBN4_ENST00000392023.1_Missense_Mutation_p.A590S			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1914					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CGAGGCCATCGCTAGCCGGGA	0.682																																																	0													68.0	57.0	61.0					19																	41066134		2203	4300	6503	SO:0001583	missense	57731			AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.5740G>T	19.37:g.41066134G>T	ENSP00000263373:p.Ala1914Ser		E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.A1914S	ENST00000352632.3	37	c.5740	CCDS12559.1	19	.	.	.	.	.	.	.	.	.	.	G	15.48	2.846644	0.51164	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000392025;ENST00000392023	T;T;T;T	0.49139	0.79;0.79;0.79;0.79	4.66	4.66	0.58398	.	0.000000	0.64402	U	0.000010	T	0.55289	0.1911	L	0.40543	1.245	0.44652	D	0.997632	D;P;D;P	0.71674	0.997;0.632;0.998;0.951	D;B;D;P	0.68621	0.93;0.311;0.959;0.688	T	0.44862	-0.9300	10	0.08837	T	0.75	.	16.4676	0.84087	0.0:0.0:1.0:0.0	.	657;590;1914;1914	C9JY79;E9PGQ5;Q9H254;Q71S06	.;.;SPTN4_HUMAN;.	S	1914;1914;1914;657;590	ENSP00000263373:A1914S;ENSP00000340345:A1914S;ENSP00000375879:A657S;ENSP00000375877:A590S	ENSP00000340345:A1914S	A	+	1	0	SPTBN4	45757974	0.827000	0.29292	1.000000	0.80357	0.939000	0.58152	3.106000	0.50322	2.424000	0.82194	0.591000	0.81541	GCT	SPTBN4	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.682	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN4	HGNC	protein_coding	OTTHUMT00000462559.2	G			41066134	+1	no_errors	ENST00000352632	ensembl	human	known	70_37	missense	SNP	1.000	T
ST5	6764	genome.wustl.edu	37	11	8832353	8832354	+	5'UTR	INS	-	-	TC	rs34550908|rs369800333|rs372854574		TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr11:8832353_8832354insTC	ENST00000313726.6	-	0	33_34				ST5_ENST00000531237.1_5'UTR|RP11-318C2.1_ENST00000533843.1_RNA|RP11-318C2.1_ENST00000527725.1_RNA|ST5_ENST00000357665.1_Intron|ST5_ENST00000526757.1_Intron|ST5_ENST00000534127.1_Intron|ST5_ENST00000530438.1_5'UTR	NM_213618.1	NP_998783.1	P78524	ST5_HUMAN	suppression of tumorigenicity 5						positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		ctttctcactgtctctctctct	0.554																																																	0																																										SO:0001623	5_prime_UTR_variant	6764			U15131	CCDS7791.1, CCDS7792.1	11p15	2012-10-04				ENSG00000166444		"""DENN/MADD domain containing"""	11350	protein-coding gene	gene with protein product	"""DENN/MADD domain containing 2B"""	140750				1390339	Standard	NM_005418		Approved	HTS1, DENND2B, p126	uc001mgt.3	P78524		ENST00000313726.6:c.-316->GA	11.37:g.8832362_8832363dupTC			B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	RNA	INS	-	NULL	ENST00000313726.6	37	NULL	CCDS7791.1	11																																																																																			ST5	-	-		0.554	ST5-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ST5	HGNC	protein_coding	OTTHUMT00000386519.1	-	NM_005418		8832354	-1	no_errors	ENST00000531237	ensembl	human	known	70_37	rna	INS	0.000:0.002	TC
STARD9	57519	genome.wustl.edu	37	15	42930937	42930937	+	Silent	SNP	G	G	A			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr15:42930937G>A	ENST00000290607.7	+	7	543	c.486G>A	c.(484-486)ttG>ttA	p.L162L		NM_020759.2	NP_065810.2	Q9P2P6	STAR9_HUMAN	StAR-related lipid transfer (START) domain containing 9	162	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spindle assembly (GO:0051225)	centriole (GO:0005814)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|lipid binding (GO:0008289)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			haematopoietic_and_lymphoid_tissue(1)|stomach(1)	2						GGGATCTGTTGAAGCAATCTG	0.413																																																	0													135.0	120.0	124.0					15																	42930937		692	1590	2282	SO:0001819	synonymous_variant	57519			AB037721	CCDS53935.1	15q15.2	2013-10-16	2007-08-16		ENSG00000159433	ENSG00000159433		"""StAR-related lipid transfer (START) domain containing"""	19162	protein-coding gene	gene with protein product		614642	"""START domain containing 9"""			10718198	Standard	NM_020759		Approved	KIAA1300	uc010udj.2	Q9P2P6	OTTHUMG00000175799	ENST00000290607.7:c.486G>A	15.37:g.42930937G>A			Q68DG2|Q6AI01|Q6ZWK0|Q9UF70	Silent	SNP	pfam_Kinesin_motor_dom,pfam_START_lipid-bd,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_START_lipid-bd,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.L162	ENST00000290607.7	37	c.486	CCDS53935.1	15																																																																																			STARD9	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom		0.413	STARD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STARD9	HGNC	protein_coding	OTTHUMT00000431094.1	G			42930937	+1	no_errors	ENST00000290607	ensembl	human	known	70_37	silent	SNP	1.000	A
SYNE1	23345	genome.wustl.edu	37	6	152716799	152716799	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr6:152716799C>T	ENST00000367255.5	-	51	8165	c.7564G>A	c.(7564-7566)Gat>Aat	p.D2522N	SYNE1_ENST00000341594.5_Missense_Mutation_p.D2561N|SYNE1_ENST00000448038.1_Missense_Mutation_p.D2529N|SYNE1_ENST00000265368.4_Missense_Mutation_p.D2522N|SYNE1_ENST00000423061.1_Missense_Mutation_p.D2529N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2522					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTGTGCTGATCTTCAAAGCTA	0.348										HNSCC(10;0.0054)																																							0													105.0	98.0	101.0					6																	152716799		2203	4300	6503	SO:0001583	missense	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.7564G>A	6.37:g.152716799C>T	ENSP00000356224:p.Asp2522Asn		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.D2522N	ENST00000367255.5	37	c.7564	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	C	16.50	3.141806	0.57044	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.34472	1.36;1.36;1.36;1.36;1.36	5.56	5.56	0.83823	.	0.093388	0.46758	D	0.000276	T	0.36166	0.0957	L	0.57536	1.79	0.80722	D	1	D;P;P;P	0.59767	0.986;0.745;0.745;0.799	P;B;B;B	0.49637	0.617;0.276;0.276;0.366	T	0.03829	-1.1000	10	0.31617	T	0.26	.	19.5204	0.95183	0.0:1.0:0.0:0.0	.	2505;2522;2522;2529	B3W695;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	N	2522;2529;2522;2529;2561	ENSP00000356224:D2522N;ENSP00000396024:D2529N;ENSP00000265368:D2522N;ENSP00000390975:D2529N;ENSP00000341887:D2561N	ENSP00000265368:D2522N	D	-	1	0	SYNE1	152758492	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.260000	0.58835	2.598000	0.87819	0.655000	0.94253	GAT	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin		0.348	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	C	NM_182961		152716799	-1	no_errors	ENST00000265368	ensembl	human	known	70_37	missense	SNP	1.000	T
SYNE1	23345	genome.wustl.edu	37	6	152716799	152716799	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr6:152716799C>T	ENST00000367255.5	-	51	8165	c.7564G>A	c.(7564-7566)Gat>Aat	p.D2522N	SYNE1_ENST00000341594.5_Missense_Mutation_p.D2561N|SYNE1_ENST00000448038.1_Missense_Mutation_p.D2529N|SYNE1_ENST00000265368.4_Missense_Mutation_p.D2522N|SYNE1_ENST00000423061.1_Missense_Mutation_p.D2529N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2522					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTGTGCTGATCTTCAAAGCTA	0.348										HNSCC(10;0.0054)																																							0													105.0	98.0	101.0					6																	152716799		2203	4300	6503	SO:0001583	missense	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.7564G>A	6.37:g.152716799C>T	ENSP00000356224:p.Asp2522Asn		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.D2522N	ENST00000367255.5	37	c.7564	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	C	16.50	3.141806	0.57044	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.34472	1.36;1.36;1.36;1.36;1.36	5.56	5.56	0.83823	.	0.093388	0.46758	D	0.000276	T	0.36166	0.0957	L	0.57536	1.79	0.80722	D	1	D;P;P;P	0.59767	0.986;0.745;0.745;0.799	P;B;B;B	0.49637	0.617;0.276;0.276;0.366	T	0.03829	-1.1000	10	0.31617	T	0.26	.	19.5204	0.95183	0.0:1.0:0.0:0.0	.	2505;2522;2522;2529	B3W695;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	N	2522;2529;2522;2529;2561	ENSP00000356224:D2522N;ENSP00000396024:D2529N;ENSP00000265368:D2522N;ENSP00000390975:D2529N;ENSP00000341887:D2561N	ENSP00000265368:D2522N	D	-	1	0	SYNE1	152758492	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.260000	0.58835	2.598000	0.87819	0.655000	0.94253	GAT	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin		0.348	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	C	NM_182961		152716799	-1	no_errors	ENST00000265368	ensembl	human	known	70_37	missense	SNP	1.000	T
TAS2R46	259292	genome.wustl.edu	37	12	11214392	11214392	+	Silent	SNP	G	G	A	rs200937291		TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr12:11214392G>A	ENST00000533467.1	-	1	501	c.502C>T	c.(502-504)Ctg>Ttg	p.L168L	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176887.2	NP_795368.2	P59540	T2R46_HUMAN	taste receptor, type 2, member 46	168					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		GCACTCCTCAGTTTGATCTTC	0.373																																																	0													155.0	158.0	157.0					12																	11214392		2192	4299	6491	SO:0001819	synonymous_variant	259292			AF494227	CCDS53748.1	12p13.2	2012-08-22				ENSG00000226761		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18877	protein-coding gene	gene with protein product		612774				12379855	Standard	NM_176887		Approved	T2R54	uc001qzp.1	P59540		ENST00000533467.1:c.502C>T	12.37:g.11214392G>A			P59548|Q645X6	Silent	SNP	pfam_TAS2_rcpt	p.L168	ENST00000533467.1	37	c.502	CCDS53748.1	12																																																																																			TAS2R46	-	pfam_TAS2_rcpt		0.373	TAS2R46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R46	HGNC	protein_coding	OTTHUMT00000383559.1	G	NM_176887		11214392	-1	no_errors	ENST00000533467	ensembl	human	known	70_37	silent	SNP	0.000	A
THBD	7056	genome.wustl.edu	37	20	23028472	23028472	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr20:23028472G>T	ENST00000377103.2	-	1	1906	c.1670C>A	c.(1669-1671)cCt>cAt	p.P557H		NM_000361.2	NP_000352.1	P07204	TRBM_HUMAN	thrombomodulin	557					blood coagulation (GO:0007596)|female pregnancy (GO:0007565)|leukocyte migration (GO:0050900)|negative regulation of blood coagulation (GO:0030195)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of platelet activation (GO:0010544)|response to cAMP (GO:0051591)|response to lipopolysaccharide (GO:0032496)|response to X-ray (GO:0010165)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			endometrium(2)|large_intestine(3)|ovary(1)|skin(1)	7	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)				Drotrecogin alfa(DB00055)|Ibuprofen(DB01050)	CTCCTTGGAAGGGGCCGCGCA	0.687																																																	0													26.0	25.0	25.0					20																	23028472		2198	4297	6495	SO:0001583	missense	7056				CCDS13148.1	20p11.21	2014-09-17			ENSG00000178726	ENSG00000178726		"""CD molecules"""	11784	protein-coding gene	gene with protein product		188040					Standard	NM_000361		Approved	CD141	uc002wss.3	P07204	OTTHUMG00000032053	ENST00000377103.2:c.1670C>A	20.37:g.23028472G>T	ENSP00000366307:p.Pro557His		Q8IV29|Q9UC32	Missense_Mutation	SNP	pfam_Tme5_EGF-like,pfam_EGF-like_Ca-bd,superfamily_C-type_lectin_fold,smart_C-type_lectin,smart_EG-like_dom,smart_EGF-like_Ca-bd,pirsf_CD93/CD141,pfscan_C-type_lectin,prints_Thrombomodulin	p.P557H	ENST00000377103.2	37	c.1670	CCDS13148.1	20	.	.	.	.	.	.	.	.	.	.	G	14.66	2.600712	0.46423	.	.	ENSG00000178726	ENST00000377103;ENST00000503590	T	0.80738	-1.41	5.51	5.51	0.81932	.	0.941883	0.08848	N	0.884933	D	0.89371	0.6696	M	0.74881	2.28	0.09310	N	1	D	0.71674	0.998	P	0.60173	0.87	T	0.81313	-0.0989	10	0.54805	T	0.06	-8.475	17.9771	0.89130	0.0:0.0:1.0:0.0	.	557	P07204	TRBM_HUMAN	H	557;539	ENSP00000366307:P557H	ENSP00000366307:P557H	P	-	2	0	THBD	22976472	0.167000	0.22975	0.015000	0.15790	0.198000	0.23893	1.716000	0.37981	2.579000	0.87056	0.561000	0.74099	CCT	THBD	-	pirsf_CD93/CD141,prints_Thrombomodulin		0.687	THBD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THBD	HGNC	protein_coding	OTTHUMT00000078307.2	G			23028472	-1	no_errors	ENST00000377103	ensembl	human	known	70_37	missense	SNP	0.058	T
TMC4	147798	genome.wustl.edu	37	19	54675749	54675749	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr19:54675749C>A	ENST00000376591.4	-	2	332	c.201G>T	c.(199-201)gaG>gaT	p.E67D	TMC4_ENST00000476013.2_5'Flank|TMC4_ENST00000301187.4_Missense_Mutation_p.E61D	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	67	Poly-Glu.				ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TTCCTCCATCCTCCTCCTCCT	0.642																																																	0													101.0	97.0	98.0					19																	54675749		2203	4300	6503	SO:0001583	missense	147798			AY236492	CCDS12882.1, CCDS46174.1	19q13.42	2008-02-05			ENSG00000167608	ENSG00000167608			22998	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005277069		Approved		uc010erf.3	Q7Z404	OTTHUMG00000066485	ENST00000376591.4:c.201G>T	19.37:g.54675749C>A	ENSP00000365776:p.Glu67Asp		Q7Z5M3|Q8N5E4|Q8TBS7	Missense_Mutation	SNP	pfam_TMC	p.E61D	ENST00000376591.4	37	c.183	CCDS46174.1	19	.	.	.	.	.	.	.	.	.	.	c	16.09	3.025669	0.54683	.	.	ENSG00000167608	ENST00000301187;ENST00000376591	T;T	0.72615	-0.66;-0.67	4.01	-5.21	0.02815	.	0.958071	0.08587	N	0.923640	T	0.49525	0.1562	L	0.38531	1.155	0.18873	N	0.999988	B;B	0.14438	0.002;0.01	B;B	0.11329	0.002;0.006	T	0.33752	-0.9856	10	0.14656	T	0.56	-0.9619	3.8062	0.08779	0.3863:0.3336:0.0:0.2801	.	67;61	Q7Z404;Q7Z404-1	TMC4_HUMAN;.	D	61;67	ENSP00000301187:E61D;ENSP00000365776:E67D	ENSP00000301187:E61D	E	-	3	2	TMC4	59367561	0.148000	0.22702	0.008000	0.14137	0.979000	0.70002	-0.074000	0.11450	-0.725000	0.04901	0.430000	0.28490	GAG	TMC4	-	NULL		0.642	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TMC4	HGNC	protein_coding	OTTHUMT00000156164.2	C			54675749	-1	no_errors	ENST00000301187	ensembl	human	known	70_37	missense	SNP	0.003	A
TMCO2	127391	genome.wustl.edu	37	1	40717196	40717196	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr1:40717196C>G	ENST00000372766.3	+	2	572	c.479C>G	c.(478-480)tCt>tGt	p.S160C	TMCO2_ENST00000468258.1_3'UTR	NM_001008740.3	NP_001008740.1	Q7Z6W1	TMCO2_HUMAN	transmembrane and coiled-coil domains 2	160						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				kidney(1)|large_intestine(3)|lung(1)|ovary(1)	6	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			GATTGCTCCTCTGAGCCCTAC	0.443																																																	0													71.0	73.0	72.0					1																	40717196		2203	4300	6503	SO:0001583	missense	127391			AL050341	CCDS30684.1	1p34.2	2014-02-12			ENSG00000188800	ENSG00000188800			23312	protein-coding gene	gene with protein product							Standard	NM_001008740		Approved	dJ39G22.2	uc001cfe.2	Q7Z6W1	OTTHUMG00000005764	ENST00000372766.3:c.479C>G	1.37:g.40717196C>G	ENSP00000361852:p.Ser160Cys			Missense_Mutation	SNP	NULL	p.S160C	ENST00000372766.3	37	c.479	CCDS30684.1	1	.	.	.	.	.	.	.	.	.	.	C	16.76	3.211004	0.58343	.	.	ENSG00000188800	ENST00000372766	.	.	.	5.11	5.11	0.69529	.	0.255156	0.28371	N	0.015585	T	0.60287	0.2257	L	0.29908	0.895	0.33931	D	0.642008	D	0.89917	1.0	D	0.70935	0.971	T	0.70637	-0.4817	9	0.87932	D	0	-11.6336	13.9168	0.63902	0.0:1.0:0.0:0.0	.	160	Q7Z6W1	TMCO2_HUMAN	C	160	.	ENSP00000361852:S160C	S	+	2	0	TMCO2	40489783	0.994000	0.37717	1.000000	0.80357	0.611000	0.37282	3.347000	0.52200	2.663000	0.90544	0.650000	0.86243	TCT	TMCO2	-	NULL		0.443	TMCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMCO2	HGNC	protein_coding	OTTHUMT00000015769.1	C	NM_001008740		40717196	+1	no_errors	ENST00000372766	ensembl	human	known	70_37	missense	SNP	0.996	G
TMCO2	127391	genome.wustl.edu	37	1	40717196	40717196	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr1:40717196C>G	ENST00000372766.3	+	2	572	c.479C>G	c.(478-480)tCt>tGt	p.S160C	TMCO2_ENST00000468258.1_3'UTR	NM_001008740.3	NP_001008740.1	Q7Z6W1	TMCO2_HUMAN	transmembrane and coiled-coil domains 2	160						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				kidney(1)|large_intestine(3)|lung(1)|ovary(1)	6	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			GATTGCTCCTCTGAGCCCTAC	0.443																																																	0													71.0	73.0	72.0					1																	40717196		2203	4300	6503	SO:0001583	missense	127391			AL050341	CCDS30684.1	1p34.2	2014-02-12			ENSG00000188800	ENSG00000188800			23312	protein-coding gene	gene with protein product							Standard	NM_001008740		Approved	dJ39G22.2	uc001cfe.2	Q7Z6W1	OTTHUMG00000005764	ENST00000372766.3:c.479C>G	1.37:g.40717196C>G	ENSP00000361852:p.Ser160Cys			Missense_Mutation	SNP	NULL	p.S160C	ENST00000372766.3	37	c.479	CCDS30684.1	1	.	.	.	.	.	.	.	.	.	.	C	16.76	3.211004	0.58343	.	.	ENSG00000188800	ENST00000372766	.	.	.	5.11	5.11	0.69529	.	0.255156	0.28371	N	0.015585	T	0.60287	0.2257	L	0.29908	0.895	0.33931	D	0.642008	D	0.89917	1.0	D	0.70935	0.971	T	0.70637	-0.4817	9	0.87932	D	0	-11.6336	13.9168	0.63902	0.0:1.0:0.0:0.0	.	160	Q7Z6W1	TMCO2_HUMAN	C	160	.	ENSP00000361852:S160C	S	+	2	0	TMCO2	40489783	0.994000	0.37717	1.000000	0.80357	0.611000	0.37282	3.347000	0.52200	2.663000	0.90544	0.650000	0.86243	TCT	TMCO2	-	NULL		0.443	TMCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMCO2	HGNC	protein_coding	OTTHUMT00000015769.1	C	NM_001008740		40717196	+1	no_errors	ENST00000372766	ensembl	human	known	70_37	missense	SNP	0.996	G
TMEM174	134288	genome.wustl.edu	37	5	72469967	72469967	+	Missense_Mutation	SNP	A	A	G			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr5:72469967A>G	ENST00000296776.5	+	2	756	c.707A>G	c.(706-708)gAa>gGa	p.E236G	TMEM174_ENST00000511737.1_Intron	NM_153217.2	NP_694949.1	Q8WUU8	TM174_HUMAN	transmembrane protein 174	236						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-54)		CCCCCTTATGAAGAAATATAC	0.483																																																	0													102.0	102.0	102.0					5																	72469967		2203	4300	6503	SO:0001583	missense	134288			BC019346	CCDS4018.1	5q13.2	2008-02-05			ENSG00000164325	ENSG00000164325			28187	protein-coding gene	gene with protein product		614909				12477932	Standard	NM_153217		Approved	MGC13034, FLJ31268	uc010izc.3	Q8WUU8	OTTHUMG00000131268	ENST00000296776.5:c.707A>G	5.37:g.72469967A>G	ENSP00000296776:p.Glu236Gly		B2RDA0|Q96N81	Missense_Mutation	SNP	NULL	p.E236G	ENST00000296776.5	37	c.707	CCDS4018.1	5	.	.	.	.	.	.	.	.	.	.	A	15.17	2.755197	0.49362	.	.	ENSG00000164325	ENST00000296776	.	.	.	5.24	5.24	0.73138	.	0.052784	0.64402	D	0.000001	T	0.77123	0.4084	M	0.69823	2.125	0.45690	D	0.998606	D	0.89917	1.0	D	0.87578	0.998	T	0.79633	-0.1722	9	0.72032	D	0.01	-20.3954	13.0137	0.58745	1.0:0.0:0.0:0.0	.	236	Q8WUU8	TM174_HUMAN	G	236	.	ENSP00000296776:E236G	E	+	2	0	TMEM174	72505723	1.000000	0.71417	0.987000	0.45799	0.057000	0.15508	5.015000	0.64035	2.202000	0.70862	0.533000	0.62120	GAA	TMEM174	-	NULL		0.483	TMEM174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM174	HGNC	protein_coding	OTTHUMT00000254036.1	A	NM_153217		72469967	+1	no_errors	ENST00000296776	ensembl	human	known	70_37	missense	SNP	1.000	G
TMEM174	134288	genome.wustl.edu	37	5	72469967	72469967	+	Missense_Mutation	SNP	A	A	G			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr5:72469967A>G	ENST00000296776.5	+	2	756	c.707A>G	c.(706-708)gAa>gGa	p.E236G	TMEM174_ENST00000511737.1_Intron	NM_153217.2	NP_694949.1	Q8WUU8	TM174_HUMAN	transmembrane protein 174	236						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-54)		CCCCCTTATGAAGAAATATAC	0.483																																																	0													102.0	102.0	102.0					5																	72469967		2203	4300	6503	SO:0001583	missense	134288			BC019346	CCDS4018.1	5q13.2	2008-02-05			ENSG00000164325	ENSG00000164325			28187	protein-coding gene	gene with protein product		614909				12477932	Standard	NM_153217		Approved	MGC13034, FLJ31268	uc010izc.3	Q8WUU8	OTTHUMG00000131268	ENST00000296776.5:c.707A>G	5.37:g.72469967A>G	ENSP00000296776:p.Glu236Gly		B2RDA0|Q96N81	Missense_Mutation	SNP	NULL	p.E236G	ENST00000296776.5	37	c.707	CCDS4018.1	5	.	.	.	.	.	.	.	.	.	.	A	15.17	2.755197	0.49362	.	.	ENSG00000164325	ENST00000296776	.	.	.	5.24	5.24	0.73138	.	0.052784	0.64402	D	0.000001	T	0.77123	0.4084	M	0.69823	2.125	0.45690	D	0.998606	D	0.89917	1.0	D	0.87578	0.998	T	0.79633	-0.1722	9	0.72032	D	0.01	-20.3954	13.0137	0.58745	1.0:0.0:0.0:0.0	.	236	Q8WUU8	TM174_HUMAN	G	236	.	ENSP00000296776:E236G	E	+	2	0	TMEM174	72505723	1.000000	0.71417	0.987000	0.45799	0.057000	0.15508	5.015000	0.64035	2.202000	0.70862	0.533000	0.62120	GAA	TMEM174	-	NULL		0.483	TMEM174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM174	HGNC	protein_coding	OTTHUMT00000254036.1	A	NM_153217		72469967	+1	no_errors	ENST00000296776	ensembl	human	known	70_37	missense	SNP	1.000	G
TMEM70	54968	genome.wustl.edu	37	8	74888116	74888117	+	5'Flank	INS	-	-	A	rs201130178		TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr8:74888116_74888117insA	ENST00000312184.5	+	0	0				TMEM70_ENST00000517439.1_5'Flank|TMEM70_ENST00000523794.1_3'UTR	NM_001040613.2|NM_017866.5	NP_001035703.1|NP_060336.3	Q9BUB7	TMM70_HUMAN	transmembrane protein 70						mitochondrial proton-transporting ATP synthase complex assembly (GO:0033615)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial inner membrane (GO:0005743)				breast(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	8	Breast(64;0.0311)		Epithelial(68;0.0186)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0564)			TCGTCCACGAGAAAAAAAAATA	0.396																																																	0																																										SO:0001631	upstream_gene_variant	54968			BC002748	CCDS6215.1, CCDS47876.1	8q21.11	2013-05-23				ENSG00000175606			26050	protein-coding gene	gene with protein product		612418				21945727, 22986587	Standard	NM_017866		Approved	FLJ20533	uc003yab.3	Q9BUB7			8.37:g.74888125_74888125dupA	Exception_encountered		E9PDY9|Q9NWY5	RNA	INS	-	NULL	ENST00000312184.5	37	NULL	CCDS6215.1	8																																																																																			TMEM70	-	-		0.396	TMEM70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM70	HGNC	protein_coding	OTTHUMT00000379028.1	-	NM_017866		74888117	+1	no_errors	ENST00000520167	ensembl	human	known	70_37	rna	INS	0.000:0.001	A
TMPRSS3	64699	genome.wustl.edu	37	21	43792007	43792007	+	3'UTR	SNP	G	G	A			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr21:43792007G>A	ENST00000291532.3	-	0	3184				TMPRSS3_ENST00000433957.2_3'UTR|TMPRSS3_ENST00000474596.1_5'UTR|TMPRSS3_ENST00000398405.1_3'UTR|TMPRSS3_ENST00000380399.1_3'UTR	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN	transmembrane protease, serine 3						cellular sodium ion homeostasis (GO:0006883)|proteolysis (GO:0006508)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						AATGAGGGAAGGAAACATATT	0.418																																																	0																																										SO:0001624	3_prime_UTR_variant	64699			AF201380	CCDS13686.1, CCDS42939.1, CCDS58790.1	21q22.3	2010-04-13			ENSG00000160183	ENSG00000160183		"""Serine peptidases / Transmembrane"""	11877	protein-coding gene	gene with protein product		605511		DFNB10, DFNB8		11462234, 11907649	Standard	NM_032405		Approved		uc002zbc.3	P57727	OTTHUMG00000086796	ENST00000291532.3:c.*864C>T	21.37:g.43792007G>A			D3DSJ6|Q5USC7|Q6ZMC3	RNA	SNP	-	NULL	ENST00000291532.3	37	NULL	CCDS13686.1	21																																																																																			TMPRSS3	-	-		0.418	TMPRSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMPRSS3	HGNC	protein_coding	OTTHUMT00000195347.1	G			43792007	-1	no_errors	ENST00000474596	ensembl	human	putative	70_37	rna	SNP	0.022	A
TNFAIP8L1	126282	genome.wustl.edu	37	19	4640537	4640537	+	Intron	SNP	C	C	A			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr19:4640537C>A	ENST00000536716.1	+	1	143				TNFAIP8L1_ENST00000327473.4_Intron|TNFAIP8L1_ENST00000598107.1_3'UTR	NM_001167942.1	NP_001161414.1	Q8WVP5	TP8L1_HUMAN	tumor necrosis factor, alpha-induced protein 8-like 1						negative regulation of TOR signaling (GO:0032007)	cytoplasm (GO:0005737)				endometrium(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		ttgagctctgccacccgcatg	0.577																																																	0																																										SO:0001627	intron_variant	126282			BC017672	CCDS12132.1	19p13.3	2008-02-05				ENSG00000185361			28279	protein-coding gene	gene with protein product		615869				12477932	Standard	NM_001167942		Approved	MGC17791	uc002max.3	Q8WVP5		ENST00000536716.1:c.-4+366C>A	19.37:g.4640537C>A			D6W627	RNA	SNP	-	NULL	ENST00000536716.1	37	NULL	CCDS12132.1	19																																																																																			TNFAIP8L1	-	-		0.577	TNFAIP8L1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFAIP8L1	HGNC	protein_coding	OTTHUMT00000458662.1	C	NM_152362		4640537	+1	no_errors	ENST00000598107	ensembl	human	known	70_37	rna	SNP	0.001	A
TNMD	64102	genome.wustl.edu	37	X	99854613	99854613	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chrX:99854613G>A	ENST00000373031.4	+	7	1070	c.853G>A	c.(853-855)Ggc>Agc	p.G285S		NM_022144.2	NP_071427.2	Q9H2S6	TNMD_HUMAN	tenomodulin	285					cellular response to BMP stimulus (GO:0071773)|endothelial cell morphogenesis (GO:0001886)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|tendon cell differentiation (GO:0035990)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(7)|skin(1)	16						ACCTTTACTAGGCTACTACCC	0.512																																																	0													102.0	61.0	75.0					X																	99854613		2203	4300	6503	SO:0001583	missense	64102			AF191770	CCDS14469.1	Xq21.33-q23	2012-10-10			ENSG00000000005	ENSG00000000005		"""BRICHOS domain containing"""	17757	protein-coding gene	gene with protein product	"""BRICHOS domain containing 4"""	300459					Standard	NM_022144		Approved	myodulin, ChM1L, tendin, TEM, BRICD4	uc004efy.4	Q9H2S6	OTTHUMG00000022001	ENST00000373031.4:c.853G>A	X.37:g.99854613G>A	ENSP00000362122:p.Gly285Ser		Q9HBX0|Q9UJG0	Missense_Mutation	SNP	pfam_BRICHOS_dom,superfamily_Chitin-bd_1,pfscan_BRICHOS_dom	p.G285S	ENST00000373031.4	37	c.853	CCDS14469.1	X	.	.	.	.	.	.	.	.	.	.	G	35	5.452285	0.96223	.	.	ENSG00000000005	ENST00000373031	T	0.43688	0.94	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.60143	0.2246	L	0.42245	1.32	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.61451	-0.7060	10	0.87932	D	0	-16.5409	19.1351	0.93424	0.0:0.0:1.0:0.0	.	285	Q9H2S6	TNMD_HUMAN	S	285	ENSP00000362122:G285S	ENSP00000362122:G285S	G	+	1	0	TNMD	99741269	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.229000	0.95273	2.469000	0.83416	0.594000	0.82650	GGC	TNMD	-	superfamily_Chitin-bd_1		0.512	TNMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNMD	HGNC	protein_coding	OTTHUMT00000057481.1	G	NM_022144		99854613	+1	no_errors	ENST00000373031	ensembl	human	known	70_37	missense	SNP	1.000	A
TNMD	64102	genome.wustl.edu	37	X	99854613	99854613	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chrX:99854613G>A	ENST00000373031.4	+	7	1070	c.853G>A	c.(853-855)Ggc>Agc	p.G285S		NM_022144.2	NP_071427.2	Q9H2S6	TNMD_HUMAN	tenomodulin	285					cellular response to BMP stimulus (GO:0071773)|endothelial cell morphogenesis (GO:0001886)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|tendon cell differentiation (GO:0035990)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(7)|skin(1)	16						ACCTTTACTAGGCTACTACCC	0.512																																																	0													102.0	61.0	75.0					X																	99854613		2203	4300	6503	SO:0001583	missense	64102			AF191770	CCDS14469.1	Xq21.33-q23	2012-10-10			ENSG00000000005	ENSG00000000005		"""BRICHOS domain containing"""	17757	protein-coding gene	gene with protein product	"""BRICHOS domain containing 4"""	300459					Standard	NM_022144		Approved	myodulin, ChM1L, tendin, TEM, BRICD4	uc004efy.4	Q9H2S6	OTTHUMG00000022001	ENST00000373031.4:c.853G>A	X.37:g.99854613G>A	ENSP00000362122:p.Gly285Ser		Q9HBX0|Q9UJG0	Missense_Mutation	SNP	pfam_BRICHOS_dom,superfamily_Chitin-bd_1,pfscan_BRICHOS_dom	p.G285S	ENST00000373031.4	37	c.853	CCDS14469.1	X	.	.	.	.	.	.	.	.	.	.	G	35	5.452285	0.96223	.	.	ENSG00000000005	ENST00000373031	T	0.43688	0.94	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.60143	0.2246	L	0.42245	1.32	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.61451	-0.7060	10	0.87932	D	0	-16.5409	19.1351	0.93424	0.0:0.0:1.0:0.0	.	285	Q9H2S6	TNMD_HUMAN	S	285	ENSP00000362122:G285S	ENSP00000362122:G285S	G	+	1	0	TNMD	99741269	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.229000	0.95273	2.469000	0.83416	0.594000	0.82650	GGC	TNMD	-	superfamily_Chitin-bd_1		0.512	TNMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNMD	HGNC	protein_coding	OTTHUMT00000057481.1	G	NM_022144		99854613	+1	no_errors	ENST00000373031	ensembl	human	known	70_37	missense	SNP	1.000	A
TNNI3	7137	genome.wustl.edu	37	19	55669030	55669030	+	5'UTR	SNP	G	G	A	rs376861481		TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr19:55669030G>A	ENST00000344887.5	-	0	70				CTD-2587H24.4_ENST00000587871.1_3'UTR|CTD-2587H24.5_ENST00000591665.1_RNA|TNNI3_ENST00000590463.1_5'UTR|TNNI3_ENST00000588882.1_5'Flank|DNAAF3_ENST00000587789.2_5'Flank	NM_000363.4	NP_000354.4	P19429	TNNI3_HUMAN	troponin I type 3 (cardiac)						cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|heart contraction (GO:0060047)|heart development (GO:0007507)|muscle filament sliding (GO:0030049)|negative regulation of ATPase activity (GO:0032780)|regulation of smooth muscle contraction (GO:0006940)|regulation of systemic arterial blood pressure by ischemic conditions (GO:0001980)|vasculogenesis (GO:0001570)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytosol (GO:0005829)|sarcomere (GO:0030017)|troponin complex (GO:0005861)	actin binding (GO:0003779)|calcium channel inhibitor activity (GO:0019855)|calcium-dependent protein binding (GO:0048306)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|troponin C binding (GO:0030172)|troponin T binding (GO:0031014)			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		TGAGGGGGCCGCCCGGGTGAC	0.637													g|||	1	0.000199681	0.0008	0.0	5008	,	,		13380	0.0		0.0	False		,,,				2504	0.0																0													32.0	43.0	39.0					19																	55669030		692	1591	2283	SO:0001623	5_prime_UTR_variant	7137			M64247	CCDS42628.1	19q13.4	2014-09-17	2005-09-12			ENSG00000129991			11947	protein-coding gene	gene with protein product		191044	"""troponin I, cardiac"", ""cardiomyopathy, dilated 2A (autosomal recessive)"""	CMD2A		9605869, 9241277, 10806205	Standard	NM_000363		Approved	TNNC1, CMH7	uc002qjg.4	P19429		ENST00000344887.5:c.-73C>T	19.37:g.55669030G>A				RNA	SNP	-	NULL	ENST00000344887.5	37	NULL	CCDS42628.1	19																																																																																			TNNI3	-	-		0.637	TNNI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNNI3	HGNC	protein_coding	OTTHUMT00000452098.1	G			55669030	-1	no_errors	ENST00000590463	ensembl	human	known	70_37	rna	SNP	0.000	A
TNNI3	7137	genome.wustl.edu	37	19	55669030	55669030	+	5'UTR	SNP	G	G	A	rs376861481		TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr19:55669030G>A	ENST00000344887.5	-	0	70				CTD-2587H24.4_ENST00000587871.1_3'UTR|CTD-2587H24.5_ENST00000591665.1_RNA|TNNI3_ENST00000590463.1_5'UTR|TNNI3_ENST00000588882.1_5'Flank|DNAAF3_ENST00000587789.2_5'Flank	NM_000363.4	NP_000354.4	P19429	TNNI3_HUMAN	troponin I type 3 (cardiac)						cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|heart contraction (GO:0060047)|heart development (GO:0007507)|muscle filament sliding (GO:0030049)|negative regulation of ATPase activity (GO:0032780)|regulation of smooth muscle contraction (GO:0006940)|regulation of systemic arterial blood pressure by ischemic conditions (GO:0001980)|vasculogenesis (GO:0001570)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytosol (GO:0005829)|sarcomere (GO:0030017)|troponin complex (GO:0005861)	actin binding (GO:0003779)|calcium channel inhibitor activity (GO:0019855)|calcium-dependent protein binding (GO:0048306)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|troponin C binding (GO:0030172)|troponin T binding (GO:0031014)			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		TGAGGGGGCCGCCCGGGTGAC	0.637													g|||	1	0.000199681	0.0008	0.0	5008	,	,		13380	0.0		0.0	False		,,,				2504	0.0																0													32.0	43.0	39.0					19																	55669030		692	1591	2283	SO:0001623	5_prime_UTR_variant	7137			M64247	CCDS42628.1	19q13.4	2014-09-17	2005-09-12			ENSG00000129991			11947	protein-coding gene	gene with protein product		191044	"""troponin I, cardiac"", ""cardiomyopathy, dilated 2A (autosomal recessive)"""	CMD2A		9605869, 9241277, 10806205	Standard	NM_000363		Approved	TNNC1, CMH7	uc002qjg.4	P19429		ENST00000344887.5:c.-73C>T	19.37:g.55669030G>A				RNA	SNP	-	NULL	ENST00000344887.5	37	NULL	CCDS42628.1	19																																																																																			TNNI3	-	-		0.637	TNNI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNNI3	HGNC	protein_coding	OTTHUMT00000452098.1	G			55669030	-1	no_errors	ENST00000590463	ensembl	human	known	70_37	rna	SNP	0.000	A
TRHDE-AS1	283392	genome.wustl.edu	37	12	72656492	72656492	+	RNA	SNP	C	C	A			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr12:72656492C>A	ENST00000550334.1	-	0	309				TRHDE-AS1_ENST00000426250.3_RNA|TRHDE-AS1_ENST00000435350.1_RNA					TRHDE antisense RNA 1																		AATTTGTGGACATACATTGAT	0.279																																																	0																																												283392			BC040230		12q21.1	2012-10-12	2012-08-15		ENSG00000236333	ENSG00000236333		"""Long non-coding RNAs"""	27471	non-coding RNA	RNA, long non-coding			"""TRHDE antisense RNA 1 (non-protein coding)"""				Standard	NR_026836		Approved		uc010stv.2		OTTHUMG00000150370		12.37:g.72656492C>A				RNA	SNP	-	NULL	ENST00000550334.1	37	NULL		12																																																																																			TRHDE-AS1	-	-		0.279	TRHDE-AS1-005	KNOWN	basic|exp_conf	antisense	TRHDE-AS1	HGNC	processed_transcript	OTTHUMT00000405387.1	C	NR_026836		72656492	-1	no_errors	ENST00000426250	ensembl	human	known	70_37	rna	SNP	0.990	A
TRPM6	140803	genome.wustl.edu	37	9	77442675	77442675	+	Intron	SNP	G	G	A	rs368111972		TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr9:77442675G>A	ENST00000360774.1	-	7	1079				TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000483186.1_Intron|TRPM6_ENST00000361255.3_Intron|TRPM6_ENST00000449912.2_Intron|TRPM6_ENST00000451710.3_Intron|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Intron|TRPM6_ENST00000359047.2_Missense_Mutation_p.S287L	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6						calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CTGGGTGACTGAGCCCCTGTG	0.522																																																	0								G	,,	3,4403	6.2+/-15.9	0,3,2200	82.0	77.0	79.0		,,	2.5	0.0	9		79	0,8600		0,0,4300	no	intron,intron,intron	TRPM6	NM_001177310.1,NM_001177311.1,NM_017662.4	,,	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	,,	,,	77442675	3,13003	2203	4300	6503	SO:0001627	intron_variant	140803			AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.841+18C>T	9.37:g.77442675G>A			Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	NULL	p.S287L	ENST00000360774.1	37	c.860	CCDS6647.1	9	.	.	.	.	.	.	.	.	.	.	G	8.986	0.976484	0.18736	6.81E-4	0.0	ENSG00000119121	ENST00000359047	T	0.62232	0.04	4.34	2.48	0.30137	.	.	.	.	.	T	0.48642	0.1511	.	.	.	0.09310	N	1	B	0.28082	0.2	B	0.30572	0.117	T	0.38023	-0.9680	8	0.38643	T	0.18	.	6.8664	0.24096	0.2218:0.0:0.7782:0.0	.	287	Q96LV9	.	L	287	ENSP00000351942:S287L	ENSP00000351942:S287L	S	-	2	0	TRPM6	76632495	0.000000	0.05858	0.009000	0.14445	0.020000	0.10135	0.364000	0.20325	0.405000	0.25532	-0.218000	0.12543	TCA	TRPM6	-	NULL		0.522	TRPM6-001	KNOWN	basic|CCDS	protein_coding	TRPM6	HGNC	protein_coding	OTTHUMT00000052693.1	G	NM_017662		77442675	-1	no_errors	ENST00000359047	ensembl	human	known	70_37	missense	SNP	0.002	A
TRPM6	140803	genome.wustl.edu	37	9	77442675	77442675	+	Intron	SNP	G	G	A	rs368111972		TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr9:77442675G>A	ENST00000360774.1	-	7	1079				TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000483186.1_Intron|TRPM6_ENST00000361255.3_Intron|TRPM6_ENST00000449912.2_Intron|TRPM6_ENST00000451710.3_Intron|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Intron|TRPM6_ENST00000359047.2_Missense_Mutation_p.S287L	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6						calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CTGGGTGACTGAGCCCCTGTG	0.522																																																	0								G	,,	3,4403	6.2+/-15.9	0,3,2200	82.0	77.0	79.0		,,	2.5	0.0	9		79	0,8600		0,0,4300	no	intron,intron,intron	TRPM6	NM_001177310.1,NM_001177311.1,NM_017662.4	,,	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	,,	,,	77442675	3,13003	2203	4300	6503	SO:0001627	intron_variant	140803			AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.841+18C>T	9.37:g.77442675G>A			Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	NULL	p.S287L	ENST00000360774.1	37	c.860	CCDS6647.1	9	.	.	.	.	.	.	.	.	.	.	G	8.986	0.976484	0.18736	6.81E-4	0.0	ENSG00000119121	ENST00000359047	T	0.62232	0.04	4.34	2.48	0.30137	.	.	.	.	.	T	0.48642	0.1511	.	.	.	0.09310	N	1	B	0.28082	0.2	B	0.30572	0.117	T	0.38023	-0.9680	8	0.38643	T	0.18	.	6.8664	0.24096	0.2218:0.0:0.7782:0.0	.	287	Q96LV9	.	L	287	ENSP00000351942:S287L	ENSP00000351942:S287L	S	-	2	0	TRPM6	76632495	0.000000	0.05858	0.009000	0.14445	0.020000	0.10135	0.364000	0.20325	0.405000	0.25532	-0.218000	0.12543	TCA	TRPM6	-	NULL		0.522	TRPM6-001	KNOWN	basic|CCDS	protein_coding	TRPM6	HGNC	protein_coding	OTTHUMT00000052693.1	G	NM_017662		77442675	-1	no_errors	ENST00000359047	ensembl	human	known	70_37	missense	SNP	0.002	A
TRPS1	7227	genome.wustl.edu	37	8	116617063	116617063	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr8:116617063G>A	ENST00000220888.5	-	3	1253	c.1094C>T	c.(1093-1095)tCt>tTt	p.S365F	TRPS1_ENST00000395715.3_Missense_Mutation_p.S378F|TRPS1_ENST00000519674.1_Missense_Mutation_p.S365F|TRPS1_ENST00000520276.1_Missense_Mutation_p.S369F|TRPS1_ENST00000519076.1_Missense_Mutation_p.S319F			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	365					chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			GGAGGGGAGAGAAGCTTTTAT	0.413									Langer-Giedion syndrome																																								0													118.0	112.0	114.0					8																	116617063		1840	4096	5936	SO:0001583	missense	7227	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.1094C>T	8.37:g.116617063G>A	ENSP00000220888:p.Ser365Phe		B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA	p.S378F	ENST00000220888.5	37	c.1133		8	.	.	.	.	.	.	.	.	.	.	G	16.23	3.063870	0.55432	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276;ENST00000519674	D;D;D;D;D	0.85773	-2.03;-2.03;-2.03;-2.03;-2.03	5.69	5.69	0.88448	.	0.177611	0.51477	D	0.000098	T	0.78039	0.4221	N	0.08118	0	0.54753	D	0.999981	B;B;B	0.29590	0.25;0.162;0.25	B;B;B	0.37047	0.24;0.066;0.24	T	0.78132	-0.2323	10	0.87932	D	0	.	18.3612	0.90375	0.0:0.0:1.0:0.0	.	369;365;378	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	F	378;365;319;369;365	ENSP00000379065:S378F;ENSP00000220888:S365F;ENSP00000428910:S319F;ENSP00000428680:S369F;ENSP00000429174:S365F	ENSP00000220888:S365F	S	-	2	0	TRPS1	116686238	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.922000	0.70036	2.840000	0.97914	0.655000	0.94253	TCT	TRPS1	-	NULL		0.413	TRPS1-002	KNOWN	basic	protein_coding	TRPS1	HGNC	protein_coding	OTTHUMT00000286436.3	G	NM_014112		116617063	-1	no_errors	ENST00000395715	ensembl	human	known	70_37	missense	SNP	1.000	A
TRPS1	7227	genome.wustl.edu	37	8	116617063	116617063	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr8:116617063G>A	ENST00000220888.5	-	3	1253	c.1094C>T	c.(1093-1095)tCt>tTt	p.S365F	TRPS1_ENST00000395715.3_Missense_Mutation_p.S378F|TRPS1_ENST00000519674.1_Missense_Mutation_p.S365F|TRPS1_ENST00000520276.1_Missense_Mutation_p.S369F|TRPS1_ENST00000519076.1_Missense_Mutation_p.S319F			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	365					chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			GGAGGGGAGAGAAGCTTTTAT	0.413									Langer-Giedion syndrome																																								0													118.0	112.0	114.0					8																	116617063		1840	4096	5936	SO:0001583	missense	7227	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.1094C>T	8.37:g.116617063G>A	ENSP00000220888:p.Ser365Phe		B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA	p.S378F	ENST00000220888.5	37	c.1133		8	.	.	.	.	.	.	.	.	.	.	G	16.23	3.063870	0.55432	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276;ENST00000519674	D;D;D;D;D	0.85773	-2.03;-2.03;-2.03;-2.03;-2.03	5.69	5.69	0.88448	.	0.177611	0.51477	D	0.000098	T	0.78039	0.4221	N	0.08118	0	0.54753	D	0.999981	B;B;B	0.29590	0.25;0.162;0.25	B;B;B	0.37047	0.24;0.066;0.24	T	0.78132	-0.2323	10	0.87932	D	0	.	18.3612	0.90375	0.0:0.0:1.0:0.0	.	369;365;378	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	F	378;365;319;369;365	ENSP00000379065:S378F;ENSP00000220888:S365F;ENSP00000428910:S319F;ENSP00000428680:S369F;ENSP00000429174:S365F	ENSP00000220888:S365F	S	-	2	0	TRPS1	116686238	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.922000	0.70036	2.840000	0.97914	0.655000	0.94253	TCT	TRPS1	-	NULL		0.413	TRPS1-002	KNOWN	basic	protein_coding	TRPS1	HGNC	protein_coding	OTTHUMT00000286436.3	G	NM_014112		116617063	-1	no_errors	ENST00000395715	ensembl	human	known	70_37	missense	SNP	1.000	A
TRPV6	55503	genome.wustl.edu	37	7	142575713	142575713	+	Silent	SNP	G	G	C			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr7:142575713G>C	ENST00000359396.3	-	2	440	c.195C>G	c.(193-195)ctC>ctG	p.L65L	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	65					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					CCTCATACTTGAGCAACTTGT	0.517																																																	0													199.0	153.0	169.0					7																	142575713		2203	4300	6503	SO:0001819	synonymous_variant	55503			AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	14006	protein-coding gene	gene with protein product		606680	"""epithelial calcium channel 2"""	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.195C>G	7.37:g.142575713G>C			A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Silent	SNP	pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV5/TRPV6_channel,prints_TRPV6_channel,prints_Ankyrin_rpt,tigrfam_TRP_channel	p.L65	ENST00000359396.3	37	c.195	CCDS5874.1	7																																																																																			TRPV6	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel		0.517	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPV6	HGNC	protein_coding	OTTHUMT00000347662.1	G	NM_014274		142575713	-1	no_errors	ENST00000359396	ensembl	human	known	70_37	silent	SNP	0.990	C
TRPV6	55503	genome.wustl.edu	37	7	142575713	142575713	+	Silent	SNP	G	G	C			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr7:142575713G>C	ENST00000359396.3	-	2	440	c.195C>G	c.(193-195)ctC>ctG	p.L65L	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	65					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					CCTCATACTTGAGCAACTTGT	0.517																																																	0													199.0	153.0	169.0					7																	142575713		2203	4300	6503	SO:0001819	synonymous_variant	55503			AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	14006	protein-coding gene	gene with protein product		606680	"""epithelial calcium channel 2"""	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.195C>G	7.37:g.142575713G>C			A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Silent	SNP	pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV5/TRPV6_channel,prints_TRPV6_channel,prints_Ankyrin_rpt,tigrfam_TRP_channel	p.L65	ENST00000359396.3	37	c.195	CCDS5874.1	7																																																																																			TRPV6	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel		0.517	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPV6	HGNC	protein_coding	OTTHUMT00000347662.1	G	NM_014274		142575713	-1	no_errors	ENST00000359396	ensembl	human	known	70_37	silent	SNP	0.990	C
UBE2I	7329	genome.wustl.edu	37	16	1358669	1358669	+	5'Flank	SNP	G	G	T	rs74655871	byFrequency	TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr16:1358669G>T	ENST00000355803.4	+	0	0				UBE2I_ENST00000403747.2_5'Flank|UBE2I_ENST00000397514.3_5'Flank|UBE2I_ENST00000339021.3_3'UTR|UBE2I_ENST00000566587.1_5'Flank|UBE2I_ENST00000325437.5_5'Flank|UBE2I_ENST00000397515.2_5'Flank	NM_194260.2	NP_919236.1	P63279	UBC9_HUMAN	ubiquitin-conjugating enzyme E2I						cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|chromosome segregation (GO:0007059)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of intracellular steroid hormone receptor signaling pathway (GO:0033145)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-translational protein modification (GO:0043687)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein sumoylation (GO:0016925)|regulation of receptor activity (GO:0010469)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|fibrillar center (GO:0001650)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|synapse (GO:0045202)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RING-like zinc finger domain binding (GO:0071535)|SUMO ligase activity (GO:0019789)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)	5		Hepatocellular(780;0.00369)				agggaatgacggagtagggga	0.552																																																	0																																										SO:0001631	upstream_gene_variant	7329			D45050	CCDS10433.1	16p13.3	2011-05-19	2011-05-19		ENSG00000103275	ENSG00000103275	6.3.2.19	"""Ubiquitin-conjugating enzymes E2"""	12485	protein-coding gene	gene with protein product		601661	"""ubiquitin-conjugating enzyme E2I (homologous to yeast UBC9)"", ""ubiquitin-conjugating enzyme E2I (UBC9 homolog, yeast)"""			8565643	Standard	NM_003345		Approved	UBC9	uc002cld.2	P63279	OTTHUMG00000047845		16.37:g.1358669G>T	Exception_encountered		D3DU69|P50550|Q15698|Q59GX1|Q86VB3	RNA	SNP	-	NULL	ENST00000355803.4	37	NULL	CCDS10433.1	16																																																																																			UBE2I	-	-		0.552	UBE2I-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	UBE2I	HGNC	protein_coding	OTTHUMT00000250317.2	G	NM_003345		1358669	+1	no_errors	ENST00000339021	ensembl	human	known	70_37	rna	SNP	0.000	T
UTS2B	257313	genome.wustl.edu	37	3	190999976	190999976	+	Start_Codon_SNP	SNP	C	C	T			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr3:190999976C>T	ENST00000340524.5	-	5	789	c.3G>A	c.(1-3)atG>atA	p.M1I	UTS2B_ENST00000427544.2_Start_Codon_SNP_p.M1I	NM_198152.3	NP_937795.2	Q765I0	UTS2B_HUMAN	urotensin 2B	1					regulation of blood pressure (GO:0008217)|regulation of vasodilation (GO:0042312)	extracellular region (GO:0005576)											GGATCTTGTTCATGTTAAAAA	0.383																																																	0													70.0	65.0	66.0					3																	190999976		2203	4300	6503	SO:0001582	initiator_codon_variant	257313			AB116021	CCDS3300.1	3q28	2013-02-28	2013-02-28	2013-02-28	ENSG00000188958	ENSG00000188958		"""Endogenous ligands"""	30894	protein-coding gene	gene with protein product	"""prepro-URP"""		"""urotensin 2 domain containing"""	UTS2D		14550283	Standard	NM_198152		Approved	URP, U2B	uc003fsu.3	Q765I0	OTTHUMG00000156192	ENST00000340524.5:c.3G>A	3.37:g.190999976C>T	ENSP00000340526:p.Met1Ile		B3KQY8|D3DNW1|Q2M1Z2	Missense_Mutation	SNP	NULL	p.M1I	ENST00000340524.5	37	c.3	CCDS3300.1	3	.	.	.	.	.	.	.	.	.	.	C	12.53	1.965040	0.34659	.	.	ENSG00000188958	ENST00000340524;ENST00000427544;ENST00000432514	T;T;T	0.60548	0.68;0.68;0.18	4.9	4.03	0.46877	.	0.451571	0.18931	N	0.127207	T	0.62319	0.2418	.	.	.	0.80722	D	1	D	0.57571	0.98	P	0.52598	0.703	T	0.62539	-0.6833	9	0.45353	T	0.12	-11.1179	9.5763	0.39459	0.0:0.9049:0.0:0.0951	.	1	Q765I0	UTS2B_HUMAN	I	1	ENSP00000340526:M1I;ENSP00000398761:M1I;ENSP00000401028:M1I	ENSP00000340526:M1I	M	-	3	0	UTS2D	192482670	0.996000	0.38824	0.656000	0.29637	0.046000	0.14306	1.515000	0.35845	1.447000	0.47661	-0.133000	0.14855	ATG	UTS2D	-	NULL		0.383	UTS2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTS2D	HGNC	protein_coding	OTTHUMT00000343353.1	C	NM_198152	Missense_Mutation	190999976	-1	no_errors	ENST00000446788	ensembl	human	known	70_37	missense	SNP	0.605	T
UTS2B	257313	genome.wustl.edu	37	3	190999976	190999976	+	Start_Codon_SNP	SNP	C	C	T			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr3:190999976C>T	ENST00000340524.5	-	5	789	c.3G>A	c.(1-3)atG>atA	p.M1I	UTS2B_ENST00000427544.2_Start_Codon_SNP_p.M1I	NM_198152.3	NP_937795.2	Q765I0	UTS2B_HUMAN	urotensin 2B	1					regulation of blood pressure (GO:0008217)|regulation of vasodilation (GO:0042312)	extracellular region (GO:0005576)											GGATCTTGTTCATGTTAAAAA	0.383																																																	0													70.0	65.0	66.0					3																	190999976		2203	4300	6503	SO:0001582	initiator_codon_variant	257313			AB116021	CCDS3300.1	3q28	2013-02-28	2013-02-28	2013-02-28	ENSG00000188958	ENSG00000188958		"""Endogenous ligands"""	30894	protein-coding gene	gene with protein product	"""prepro-URP"""		"""urotensin 2 domain containing"""	UTS2D		14550283	Standard	NM_198152		Approved	URP, U2B	uc003fsu.3	Q765I0	OTTHUMG00000156192	ENST00000340524.5:c.3G>A	3.37:g.190999976C>T	ENSP00000340526:p.Met1Ile		B3KQY8|D3DNW1|Q2M1Z2	Missense_Mutation	SNP	NULL	p.M1I	ENST00000340524.5	37	c.3	CCDS3300.1	3	.	.	.	.	.	.	.	.	.	.	C	12.53	1.965040	0.34659	.	.	ENSG00000188958	ENST00000340524;ENST00000427544;ENST00000432514	T;T;T	0.60548	0.68;0.68;0.18	4.9	4.03	0.46877	.	0.451571	0.18931	N	0.127207	T	0.62319	0.2418	.	.	.	0.80722	D	1	D	0.57571	0.98	P	0.52598	0.703	T	0.62539	-0.6833	9	0.45353	T	0.12	-11.1179	9.5763	0.39459	0.0:0.9049:0.0:0.0951	.	1	Q765I0	UTS2B_HUMAN	I	1	ENSP00000340526:M1I;ENSP00000398761:M1I;ENSP00000401028:M1I	ENSP00000340526:M1I	M	-	3	0	UTS2D	192482670	0.996000	0.38824	0.656000	0.29637	0.046000	0.14306	1.515000	0.35845	1.447000	0.47661	-0.133000	0.14855	ATG	UTS2D	-	NULL		0.383	UTS2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTS2D	HGNC	protein_coding	OTTHUMT00000343353.1	C	NM_198152	Missense_Mutation	190999976	-1	no_errors	ENST00000446788	ensembl	human	known	70_37	missense	SNP	0.605	T
VAPB	9217	genome.wustl.edu	37	20	56965216	56965216	+	Intron	SNP	C	C	G			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr20:56965216C>G	ENST00000475243.1	+	1	396				VAPB_ENST00000265619.2_3'UTR|VAPB_ENST00000395802.3_Intron	NM_004738.4	NP_004729.1	O95292	VAPB_HUMAN	VAMP (vesicle-associated membrane protein)-associated protein B and C						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|endoplasmic reticulum unfolded protein response (GO:0030968)|modulation by virus of host morphology or physiology (GO:0019048)|positive regulation of viral genome replication (GO:0045070)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-tubulin binding (GO:0048487)|enzyme binding (GO:0019899)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|structural molecule activity (GO:0005198)			kidney(2)|lung(3)|prostate(1)	6	Lung NSC(12;0.000615)|all_lung(29;0.00186)		BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;3.7e-08)|all cancers(14;3.88e-07)			TGAACCTCCTCAGGACTTCTG	0.498																																																	0																																										SO:0001627	intron_variant	9217			AF086628	CCDS33498.1, CCDS56198.1	20q13	2014-09-17			ENSG00000124164	ENSG00000124164			12649	protein-coding gene	gene with protein product		605704				9920726	Standard	NM_004738		Approved	VAP-B, VAP-C, ALS8	uc002xza.3	O95292	OTTHUMG00000032840	ENST00000475243.1:c.58+643C>G	20.37:g.56965216C>G			A2A2F2|O95293|Q9P0H0	RNA	SNP	-	NULL	ENST00000475243.1	37	NULL	CCDS33498.1	20																																																																																			VAPB	-	-		0.498	VAPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VAPB	HGNC	protein_coding	OTTHUMT00000079875.2	C			56965216	+1	no_errors	ENST00000265619	ensembl	human	known	70_37	rna	SNP	0.001	G
VPS13C	54832	genome.wustl.edu	37	15	62223419	62223419	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr15:62223419C>A	ENST00000261517.5	-	50	5981	c.5908G>T	c.(5908-5910)Ggt>Tgt	p.G1970C	VPS13C_ENST00000395896.4_Missense_Mutation_p.G1970C|VPS13C_ENST00000395898.3_Missense_Mutation_p.G1927C|VPS13C_ENST00000249837.3_Missense_Mutation_p.G1927C	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CTGAGTTCACCAAGTTGGAAA	0.348																																																	0													102.0	87.0	92.0					15																	62223419		2203	4300	6503	SO:0001583	missense	54832			AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.5908G>T	15.37:g.62223419C>A	ENSP00000261517:p.Gly1970Cys			Missense_Mutation	SNP	pfam_VPSAP,pfam_Autophagy-rel_C	p.G1970C	ENST00000261517.5	37	c.5908	CCDS32257.1	15	.	.	.	.	.	.	.	.	.	.	C	24.2	4.510641	0.85389	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.45668	0.89;0.89;1.06	5.41	5.41	0.78517	.	0.108241	0.64402	D	0.000008	T	0.66416	0.2787	M	0.69823	2.125	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.984;1.0	D;D;P;D	0.83275	0.987;0.996;0.879;0.99	T	0.68697	-0.5340	10	0.87932	D	0	.	19.5729	0.95428	0.0:1.0:0.0:0.0	.	1927;1970;1927;1970	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	C	1927;1970;1970;1970	ENSP00000249837:G1927C;ENSP00000261517:G1970C;ENSP00000379233:G1970C	ENSP00000249837:G1927C	G	-	1	0	VPS13C	60010711	1.000000	0.71417	0.849000	0.33467	0.961000	0.63080	6.535000	0.73838	2.684000	0.91462	0.650000	0.86243	GGT	VPS13C	-	NULL		0.348	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13C	HGNC	protein_coding	OTTHUMT00000415997.1	C	NM_017684		62223419	-1	no_errors	ENST00000261517	ensembl	human	known	70_37	missense	SNP	0.990	A
VPS72	6944	genome.wustl.edu	37	1	151149168	151149168	+	Silent	SNP	G	G	T			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr1:151149168G>T	ENST00000354473.4	-	6	1116	c.1080C>A	c.(1078-1080)ctC>ctA	p.L360L	TMOD4_ENST00000416280.2_5'Flank|TMOD4_ENST00000601585.1_5'Flank|VPS72_ENST00000496809.1_5'Flank			Q15906	VPS72_HUMAN	vacuolar protein sorting 72 homolog (S. cerevisiae)	349					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CAGAGCCAGGGAGGGGCTCAG	0.572																																					Pancreas(109;1131 2287 3209 24201)												0													72.0	85.0	81.0					1																	151149168		2203	4299	6502	SO:0001819	synonymous_variant	6944			D43642	CCDS989.1, CCDS59201.1	1q21	2008-02-05	2006-12-19	2005-09-08	ENSG00000163159	ENSG00000163159			11644	protein-coding gene	gene with protein product		600607	"""transcription factor-like 1"", ""vacuolar protein sorting 72 (yeast)"""	TCFL1		7702631	Standard	NM_001271087		Approved	YL-1, YL1, Swc2	uc001exe.2	Q15906	OTTHUMG00000012345	ENST00000354473.4:c.1080C>A	1.37:g.151149168G>T			A6NLK9|A6PW55|Q53GJ2|Q5U0R4	Silent	SNP	pfam_YL1,pfam_YL1_C	p.L349	ENST00000354473.4	37	c.1047	CCDS59201.1	1																																																																																			VPS72	-	NULL		0.572	VPS72-002	NOVEL	mRNA_start_NF|basic|exp_conf|CCDS	protein_coding	VPS72	HGNC	protein_coding	OTTHUMT00000034394.3	G	NM_005997		151149168	-1	no_errors	ENST00000368892	ensembl	human	known	70_37	silent	SNP	0.992	T
VPS72	6944	genome.wustl.edu	37	1	151149168	151149168	+	Silent	SNP	G	G	T			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr1:151149168G>T	ENST00000354473.4	-	6	1116	c.1080C>A	c.(1078-1080)ctC>ctA	p.L360L	TMOD4_ENST00000416280.2_5'Flank|TMOD4_ENST00000601585.1_5'Flank|VPS72_ENST00000496809.1_5'Flank			Q15906	VPS72_HUMAN	vacuolar protein sorting 72 homolog (S. cerevisiae)	349					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CAGAGCCAGGGAGGGGCTCAG	0.572																																					Pancreas(109;1131 2287 3209 24201)												0													72.0	85.0	81.0					1																	151149168		2203	4299	6502	SO:0001819	synonymous_variant	6944			D43642	CCDS989.1, CCDS59201.1	1q21	2008-02-05	2006-12-19	2005-09-08	ENSG00000163159	ENSG00000163159			11644	protein-coding gene	gene with protein product		600607	"""transcription factor-like 1"", ""vacuolar protein sorting 72 (yeast)"""	TCFL1		7702631	Standard	NM_001271087		Approved	YL-1, YL1, Swc2	uc001exe.2	Q15906	OTTHUMG00000012345	ENST00000354473.4:c.1080C>A	1.37:g.151149168G>T			A6NLK9|A6PW55|Q53GJ2|Q5U0R4	Silent	SNP	pfam_YL1,pfam_YL1_C	p.L349	ENST00000354473.4	37	c.1047	CCDS59201.1	1																																																																																			VPS72	-	NULL		0.572	VPS72-002	NOVEL	mRNA_start_NF|basic|exp_conf|CCDS	protein_coding	VPS72	HGNC	protein_coding	OTTHUMT00000034394.3	G	NM_005997		151149168	-1	no_errors	ENST00000368892	ensembl	human	known	70_37	silent	SNP	0.992	T
WAPAL	23063	genome.wustl.edu	37	10	88196713	88196713	+	3'UTR	SNP	G	G	T			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr10:88196713G>T	ENST00000298767.5	-	0	4632				WAPAL_ENST00000484070.1_5'UTR	NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)						mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA replication (GO:0008156)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of fibroblast proliferation (GO:0048146)|protein localization to chromatin (GO:0071168)|regulation of chromosome condensation (GO:0060623)|regulation of cohesin localization to chromatin (GO:0071922)|response to toxic substance (GO:0009636)|viral process (GO:0016032)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)				breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						TGTATCTTTGGATTCCATCTA	0.269																																																	0																																										SO:0001624	3_prime_UTR_variant	23063			AB065003	CCDS7375.1	10q23.31	2006-12-08	2006-03-16	2006-03-16	ENSG00000062650	ENSG00000062650			23293	protein-coding gene	gene with protein product	"""friend of EBNA2"""	610754	"""KIAA0261"""	KIAA0261		9039502, 17112726	Standard	XM_006717726		Approved	FOE, WAPL	uc001kdo.3	Q7Z5K2	OTTHUMG00000018651	ENST00000298767.5:c.*587C>A	10.37:g.88196713G>T			A7E2B5|Q5VSK5|Q8IX10|Q92549	RNA	SNP	-	NULL	ENST00000298767.5	37	NULL	CCDS7375.1	10																																																																																			WAPAL	-	-		0.269	WAPAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WAPAL	HGNC	protein_coding	OTTHUMT00000049151.2	G	NM_015045		88196713	-1	no_errors	ENST00000484070	ensembl	human	known	70_37	rna	SNP	1.000	T
WDR78	79819	genome.wustl.edu	37	1	67359062	67359062	+	Missense_Mutation	SNP	C	C	T	rs146236465		TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr1:67359062C>T	ENST00000371026.3	-	3	435	c.380G>A	c.(379-381)cGa>cAa	p.R127Q	WDR78_ENST00000371022.3_Missense_Mutation_p.R127Q|WDR78_ENST00000371023.3_Missense_Mutation_p.R127Q|WDR78_ENST00000431318.1_5'UTR	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	127					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						GTAAAGAGGTCGGGGAGTAAC	0.348																																																	0								C	GLN/ARG,GLN/ARG	0,4406		0,0,2203	162.0	156.0	158.0		380,380	3.3	0.9	1	dbSNP_134	158	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	WDR78	NM_024763.4,NM_207014.2	43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	127/849,127/546	67359062	1,13005	2203	4300	6503	SO:0001583	missense	79819			BX648840	CCDS635.1, CCDS44157.1	1p31.2	2014-02-21	2013-02-19	2013-02-19	ENSG00000152763	ENSG00000152763		"""WD repeat domain containing"""	26252	protein-coding gene	gene with protein product						21953912	Standard	NM_207014		Approved	DIC4, FLJ23129	uc001dcx.3	Q5VTH9	OTTHUMG00000009165	ENST00000371026.3:c.380G>A	1.37:g.67359062C>T	ENSP00000360065:p.Arg127Gln		A8K9W5|B5MDT3|H7BY80|Q5VTI0|Q8N5G5|Q9H5R9|Q9UF44	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R127Q	ENST00000371026.3	37	c.380	CCDS635.1	1	.	.	.	.	.	.	.	.	.	.	C	11.74	1.729000	0.30684	0.0	1.16E-4	ENSG00000152763	ENST00000371026;ENST00000371023;ENST00000371022	T;T;T	0.58210	0.35;2.16;1.45	5.17	3.31	0.37934	.	0.355620	0.29355	N	0.012382	T	0.31327	0.0793	L	0.39898	1.24	0.80722	D	1	D;B;B	0.67145	0.996;0.205;0.205	P;B;B	0.51453	0.67;0.02;0.02	T	0.08743	-1.0707	10	0.15952	T	0.53	-9.7157	8.3503	0.32299	0.0:0.8166:0.0:0.1834	.	127;127;127	Q5TAD8;A0AVI9;Q5VTH9	.;.;WDR78_HUMAN	Q	127	ENSP00000360065:R127Q;ENSP00000360062:R127Q;ENSP00000360061:R127Q	ENSP00000360061:R127Q	R	-	2	0	WDR78	67131650	0.258000	0.24033	0.905000	0.35620	0.538000	0.34931	0.337000	0.19841	0.693000	0.31634	0.650000	0.86243	CGA	WDR78	-	NULL		0.348	WDR78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR78	HGNC	protein_coding	OTTHUMT00000025404.1	C	NM_024763		67359062	-1	no_errors	ENST00000371026	ensembl	human	known	70_37	missense	SNP	0.910	T
XK	7504	genome.wustl.edu	37	X	37587667	37587667	+	Missense_Mutation	SNP	T	T	A			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chrX:37587667T>A	ENST00000378616.3	+	3	1490	c.1287T>A	c.(1285-1287)agT>agA	p.S429R	TM4SF2_ENST00000465127.1_Intron	NM_021083.2	NP_066569.1	P51811	XK_HUMAN	X-linked Kx blood group	429					amino acid transport (GO:0006865)|transport (GO:0006810)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			breast(1)|endometrium(4)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		all_lung(315;0.175)				GTAAAACAAGTCCTGAGCCTG	0.478																																																	0													83.0	77.0	79.0					X																	37587667		2202	4300	6502	SO:0001583	missense	7504			Z32684	CCDS14241.1	Xp21.1	2014-07-19	2014-06-18		ENSG00000047597	ENSG00000047597		"""Blood group antigens"""	12811	protein-coding gene	gene with protein product	"""Kx antigen"", ""McLeod syndrome"""	314850	"""Kell blood group precursor (McLeod phenotype)"", ""XK, Kell blood group complex subunit (McLeod syndrome)"", ""neuroacanthocytosis"", ""neurocanthocytosis"""	NA, NAC		8004674, 11761473	Standard	NM_021083		Approved	XKR1, Kx, X1k	uc004ddq.3	P51811	OTTHUMG00000033171	ENST00000378616.3:c.1287T>A	X.37:g.37587667T>A	ENSP00000367879:p.Ser429Arg		Q4TTN6|Q8IUK6|Q9UC77	Missense_Mutation	SNP	pfam_Transport_prot_XK	p.S429R	ENST00000378616.3	37	c.1287	CCDS14241.1	X	.	.	.	.	.	.	.	.	.	.	T	0.021	-1.419852	0.01136	.	.	ENSG00000047597	ENST00000378616	T	0.64085	-0.08	4.22	1.79	0.24919	.	0.640674	0.17655	N	0.166521	T	0.39145	0.1067	L	0.27053	0.805	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.12863	-1.0531	10	0.16420	T	0.52	-25.0696	2.814	0.05451	0.2233:0.1208:0.0:0.6559	.	429	P51811	XK_HUMAN	R	429	ENSP00000367879:S429R	ENSP00000367879:S429R	S	+	3	2	XK	37472606	0.059000	0.20769	0.001000	0.08648	0.008000	0.06430	1.883000	0.39658	0.256000	0.21614	-0.391000	0.06502	AGT	XK	-	NULL		0.478	XK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XK	HGNC	protein_coding	OTTHUMT00000080875.1	T	NM_021083		37587667	+1	no_errors	ENST00000378616	ensembl	human	known	70_37	missense	SNP	0.002	A
XK	7504	genome.wustl.edu	37	X	37587667	37587667	+	Missense_Mutation	SNP	T	T	A			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chrX:37587667T>A	ENST00000378616.3	+	3	1490	c.1287T>A	c.(1285-1287)agT>agA	p.S429R	TM4SF2_ENST00000465127.1_Intron	NM_021083.2	NP_066569.1	P51811	XK_HUMAN	X-linked Kx blood group	429					amino acid transport (GO:0006865)|transport (GO:0006810)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			breast(1)|endometrium(4)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		all_lung(315;0.175)				GTAAAACAAGTCCTGAGCCTG	0.478																																																	0													83.0	77.0	79.0					X																	37587667		2202	4300	6502	SO:0001583	missense	7504			Z32684	CCDS14241.1	Xp21.1	2014-07-19	2014-06-18		ENSG00000047597	ENSG00000047597		"""Blood group antigens"""	12811	protein-coding gene	gene with protein product	"""Kx antigen"", ""McLeod syndrome"""	314850	"""Kell blood group precursor (McLeod phenotype)"", ""XK, Kell blood group complex subunit (McLeod syndrome)"", ""neuroacanthocytosis"", ""neurocanthocytosis"""	NA, NAC		8004674, 11761473	Standard	NM_021083		Approved	XKR1, Kx, X1k	uc004ddq.3	P51811	OTTHUMG00000033171	ENST00000378616.3:c.1287T>A	X.37:g.37587667T>A	ENSP00000367879:p.Ser429Arg		Q4TTN6|Q8IUK6|Q9UC77	Missense_Mutation	SNP	pfam_Transport_prot_XK	p.S429R	ENST00000378616.3	37	c.1287	CCDS14241.1	X	.	.	.	.	.	.	.	.	.	.	T	0.021	-1.419852	0.01136	.	.	ENSG00000047597	ENST00000378616	T	0.64085	-0.08	4.22	1.79	0.24919	.	0.640674	0.17655	N	0.166521	T	0.39145	0.1067	L	0.27053	0.805	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.12863	-1.0531	10	0.16420	T	0.52	-25.0696	2.814	0.05451	0.2233:0.1208:0.0:0.6559	.	429	P51811	XK_HUMAN	R	429	ENSP00000367879:S429R	ENSP00000367879:S429R	S	+	3	2	XK	37472606	0.059000	0.20769	0.001000	0.08648	0.008000	0.06430	1.883000	0.39658	0.256000	0.21614	-0.391000	0.06502	AGT	XK	-	NULL		0.478	XK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XK	HGNC	protein_coding	OTTHUMT00000080875.1	T	NM_021083		37587667	+1	no_errors	ENST00000378616	ensembl	human	known	70_37	missense	SNP	0.002	A
XIST	7503	genome.wustl.edu	37	X	73069529	73069529	+	lincRNA	SNP	G	G	A			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chrX:73069529G>A	ENST00000429829.1	-	0	3059					NR_001564.2				X inactive specific transcript (non-protein coding)																		AGTCAGTACTGAAGATCAGCA	0.383																																																	0													53.0	49.0	50.0					X																	73069529		876	1989	2865			7503			M97168		Xq13.2	2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	12810	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	Standard	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2		OTTHUMG00000021839		X.37:g.73069529G>A				RNA	SNP	-	NULL	ENST00000429829.1	37	NULL		X																																																																																			XIST	-	-		0.383	XIST-001	KNOWN	basic	lincRNA	XIST	HGNC	lincRNA	OTTHUMT00000057239.1	G	NR_001564		73069529	-1	no_errors	ENST00000429829	ensembl	human	known	70_37	rna	SNP	0.000	A
XIST	7503	genome.wustl.edu	37	X	73069529	73069529	+	lincRNA	SNP	G	G	A			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chrX:73069529G>A	ENST00000429829.1	-	0	3059					NR_001564.2				X inactive specific transcript (non-protein coding)																		AGTCAGTACTGAAGATCAGCA	0.383																																																	0													53.0	49.0	50.0					X																	73069529		876	1989	2865			7503			M97168		Xq13.2	2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	12810	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	Standard	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2		OTTHUMG00000021839		X.37:g.73069529G>A				RNA	SNP	-	NULL	ENST00000429829.1	37	NULL		X																																																																																			XIST	-	-		0.383	XIST-001	KNOWN	basic	lincRNA	XIST	HGNC	lincRNA	OTTHUMT00000057239.1	G	NR_001564		73069529	-1	no_errors	ENST00000429829	ensembl	human	known	70_37	rna	SNP	0.000	A
ZAN	7455	genome.wustl.edu	37	7	100355966	100355966	+	RNA	SNP	G	G	T			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr7:100355966G>T	ENST00000348028.3	+	0	3616				ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCACCCCTACGGTGAGAGCCC	0.632																																																	0													31.0	35.0	34.0					7																	100355966		2086	4206	6292			7455			U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100355966G>T			A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom	p.A1151S	ENST00000348028.3	37	c.3451		7	.	.	.	.	.	.	.	.	.	.	G	13.65	2.299696	0.40694	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.14266	2.55;2.55;2.52	4.21	4.21	0.49690	von Willebrand factor, type D domain (1);	0.196323	0.25270	N	0.031887	T	0.19525	0.0469	N	0.25144	0.715	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72982	0.979;0.953	T	0.02781	-1.1111	10	0.15499	T	0.54	.	12.3558	0.55174	0.0:0.0:1.0:0.0	.	1151;1151	F5H0T8;Q9Y493	.;ZAN_HUMAN	S	1151	ENSP00000445943:A1151S;ENSP00000445091:A1151S;ENSP00000444427:A1151S	ENSP00000423579:A1151S	A	+	1	0	ZAN	100193902	0.999000	0.42202	0.999000	0.59377	0.705000	0.40729	3.550000	0.53691	2.625000	0.88918	0.655000	0.94253	GCA	ZAN	-	smart_VWC_out,smart_VWF_type-D		0.632	ZAN-006	KNOWN	basic	polymorphic_pseudogene	ZAN	HGNC	polymorphic_pseudogene	OTTHUMT00000347214.1	G	NM_003386		100355966	+1	no_errors	ENST00000546292	ensembl	human	known	70_37	missense	SNP	1.000	T
ZBTB7A	51341	genome.wustl.edu	37	19	4054349	4054349	+	Silent	SNP	C	C	A	rs532750291		TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr19:4054349C>A	ENST00000322357.4	-	2	1160	c.882G>T	c.(880-882)ccG>ccT	p.P294P	ZBTB7A_ENST00000601588.1_Silent_p.P294P	NM_015898.2	NP_056982.1	O95365	ZBT7A_HUMAN	zinc finger and BTB domain containing 7A	294					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)		ACAGGAAGCCCGGAGAGTCGC	0.766																																																	0													1.0	2.0	1.0					19																	4054349		853	1939	2792	SO:0001819	synonymous_variant	51341			AF000561	CCDS12119.1	19p13.3	2013-01-08		2005-04-07		ENSG00000178951		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	18078	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 7A, HIV-1 inducer of short transcripts binding protein"", ""lymphoma related factor"""	605878	"""zinc finger and BTB domain containing 7"""	ZBTB7		9973611, 9927193	Standard	NM_015898		Approved	FBI-1, LRF, DKFZp547O146, pokemon, ZNF857A	uc002lzi.3	O95365		ENST00000322357.4:c.882G>T	19.37:g.4054349C>A			D6W619|O00456|Q14D41|Q5XG86	Silent	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.P294	ENST00000322357.4	37	c.882	CCDS12119.1	19																																																																																			ZBTB7A	-	NULL		0.766	ZBTB7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB7A	HGNC	protein_coding	OTTHUMT00000457621.2	C	NM_015898		4054349	-1	no_errors	ENST00000322357	ensembl	human	known	70_37	silent	SNP	0.697	A
ZKSCAN1	7586	genome.wustl.edu	37	7	99627904	99627904	+	Silent	SNP	C	C	A			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr7:99627904C>A	ENST00000324306.6	+	5	939	c.705C>A	c.(703-705)tcC>tcA	p.S235S	ZKSCAN1_ENST00000535170.1_Silent_p.S22S|ZKSCAN1_ENST00000426572.1_Silent_p.S199S	NM_003439.1	NP_003430.1	P17029	ZKSC1_HUMAN	zinc finger with KRAB and SCAN domains 1	235	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			TGGCTGTGTCCCTCATTCTGG	0.502																																																	0													139.0	119.0	126.0					7																	99627904		2203	4300	6503	SO:0001819	synonymous_variant	7586			X52349	CCDS34698.1, CCDS69349.1, CCDS75640.1	7q22	2013-01-09	2004-11-16	2004-11-17	ENSG00000106261	ENSG00000106261		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13101	protein-coding gene	gene with protein product		601260	"""zinc finger protein 36 (KOX 18)"""	ZNF139, ZNF36			Standard	NM_001287055		Approved	KOX18, PHZ-37, ZSCAN33	uc003usk.1	P17029	OTTHUMG00000156534	ENST00000324306.6:c.705C>A	7.37:g.99627904C>A			A4D294|P52745|Q2M1U1|Q8TBW5|Q8TEK7	Silent	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.S235	ENST00000324306.6	37	c.705	CCDS34698.1	7																																																																																			ZKSCAN1	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.502	ZKSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZKSCAN1	HGNC	protein_coding	OTTHUMT00000344550.2	C	NM_003439		99627904	+1	no_errors	ENST00000324306	ensembl	human	known	70_37	silent	SNP	1.000	A
ZNF213	7760	genome.wustl.edu	37	16	3187585	3187585	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr16:3187585C>A	ENST00000396878.3	+	2	779	c.304C>A	c.(304-306)Cag>Aag	p.Q102K	RP11-473M20.14_ENST00000576590.1_RNA|ZNF213_ENST00000576416.1_Missense_Mutation_p.Q102K|RP11-473M20.14_ENST00000575089.1_RNA|RP11-473M20.14_ENST00000571449.1_RNA|ZNF213_ENST00000416391.2_5'UTR|ZNF213_ENST00000574902.1_Missense_Mutation_p.Q102K|RP11-473M20.14_ENST00000571963.1_RNA	NM_001134655.1|NM_004220.2	NP_001128127.1|NP_004211.1	O14771	ZN213_HUMAN	zinc finger protein 213	102	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				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)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	16						AGGGGAGATCCAGGGCTGGGT	0.657																																																	0													34.0	36.0	36.0					16																	3187585		2197	4300	6497	SO:0001583	missense	7760			AF017433	CCDS10495.1	16p13.3	2014-05-13	2007-02-20	2007-02-20	ENSG00000085644	ENSG00000085644		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13005	protein-coding gene	gene with protein product		608387				9653642, 10023065	Standard	NM_004220		Approved	CR53, ZKSCAN21, ZSCAN53	uc010uws.2	O14771	OTTHUMG00000177519	ENST00000396878.3:c.304C>A	16.37:g.3187585C>A	ENSP00000380087:p.Gln102Lys		A8K1B9|B4DMG6|Q96IS1	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.Q102K	ENST00000396878.3	37	c.304	CCDS10495.1	16	.	.	.	.	.	.	.	.	.	.	C	14.43	2.532412	0.45073	.	.	ENSG00000085644	ENST00000396878	T	0.04758	3.56	5.02	5.02	0.67125	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.000000	0.43579	D	0.000549	T	0.25791	0.0628	M	0.86651	2.83	0.80722	D	1	D	0.69078	0.997	D	0.76071	0.987	T	0.03086	-1.1074	10	0.66056	D	0.02	.	15.8423	0.78857	0.0:1.0:0.0:0.0	.	102	O14771	ZN213_HUMAN	K	102	ENSP00000380087:Q102K	ENSP00000380087:Q102K	Q	+	1	0	ZNF213	3127586	0.659000	0.27411	0.864000	0.33941	0.279000	0.26890	2.005000	0.40864	2.341000	0.79615	0.655000	0.94253	CAG	ZNF213	-	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN		0.657	ZNF213-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF213	HGNC	protein_coding	OTTHUMT00000437334.1	C	NM_004220		3187585	+1	no_errors	ENST00000396878	ensembl	human	known	70_37	missense	SNP	0.739	A
ZNF443	10224	genome.wustl.edu	37	19	12542024	12542024	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr19:12542024G>A	ENST00000301547.5	-	4	1159	c.962C>T	c.(961-963)tCc>tTc	p.S321F	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	321					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						AAGGGAACCGGAAACACTGAA	0.433																																																	0													150.0	143.0	146.0					19																	12542024		2203	4299	6502	SO:0001583	missense	10224			AB011414	CCDS32918.1	19p13.13	2013-01-08			ENSG00000180855	ENSG00000180855		"""Zinc fingers, C2H2-type"", ""-"""	20878	protein-coding gene	gene with protein product		606697				9731181	Standard	NM_005815		Approved	ZK1	uc002mtu.3	Q9Y2A4	OTTHUMG00000156404	ENST00000301547.5:c.962C>T	19.37:g.12542024G>A	ENSP00000301547:p.Ser321Phe			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.S321F	ENST00000301547.5	37	c.962	CCDS32918.1	19	.	.	.	.	.	.	.	.	.	.	G	1.163	-0.643171	0.03531	.	.	ENSG00000180855	ENST00000301547;ENST00000411622	T	0.08008	3.14	1.44	0.359	0.16088	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08670	0.0215	M	0.79011	2.435	0.09310	N	1	B	0.14012	0.009	B	0.12837	0.008	T	0.45687	-0.9244	9	0.12430	T	0.62	.	1.9413	0.03347	0.3604:0.0:0.374:0.2656	.	321	Q9Y2A4	ZN443_HUMAN	F	321	ENSP00000301547:S321F	ENSP00000301547:S321F	S	-	2	0	ZNF443	12403024	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.562000	0.05950	0.193000	0.20303	0.461000	0.40582	TCC	ZNF443	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.433	ZNF443-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF443	HGNC	protein_coding	OTTHUMT00000344084.1	G	NM_005815		12542024	-1	no_errors	ENST00000301547	ensembl	human	known	70_37	missense	SNP	0.000	A
ZNF443	10224	genome.wustl.edu	37	19	12542024	12542024	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr19:12542024G>A	ENST00000301547.5	-	4	1159	c.962C>T	c.(961-963)tCc>tTc	p.S321F	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	321					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						AAGGGAACCGGAAACACTGAA	0.433																																																	0													150.0	143.0	146.0					19																	12542024		2203	4299	6502	SO:0001583	missense	10224			AB011414	CCDS32918.1	19p13.13	2013-01-08			ENSG00000180855	ENSG00000180855		"""Zinc fingers, C2H2-type"", ""-"""	20878	protein-coding gene	gene with protein product		606697				9731181	Standard	NM_005815		Approved	ZK1	uc002mtu.3	Q9Y2A4	OTTHUMG00000156404	ENST00000301547.5:c.962C>T	19.37:g.12542024G>A	ENSP00000301547:p.Ser321Phe			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.S321F	ENST00000301547.5	37	c.962	CCDS32918.1	19	.	.	.	.	.	.	.	.	.	.	G	1.163	-0.643171	0.03531	.	.	ENSG00000180855	ENST00000301547;ENST00000411622	T	0.08008	3.14	1.44	0.359	0.16088	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08670	0.0215	M	0.79011	2.435	0.09310	N	1	B	0.14012	0.009	B	0.12837	0.008	T	0.45687	-0.9244	9	0.12430	T	0.62	.	1.9413	0.03347	0.3604:0.0:0.374:0.2656	.	321	Q9Y2A4	ZN443_HUMAN	F	321	ENSP00000301547:S321F	ENSP00000301547:S321F	S	-	2	0	ZNF443	12403024	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.562000	0.05950	0.193000	0.20303	0.461000	0.40582	TCC	ZNF443	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.433	ZNF443-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF443	HGNC	protein_coding	OTTHUMT00000344084.1	G	NM_005815		12542024	-1	no_errors	ENST00000301547	ensembl	human	known	70_37	missense	SNP	0.000	A
ZNF479	90827	genome.wustl.edu	37	7	57188853	57188853	+	Missense_Mutation	SNP	C	C	T	rs562881488	byFrequency	TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr7:57188853C>T	ENST00000331162.4	-	5	539	c.269G>A	c.(268-270)cGt>cAt	p.R90H		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	90					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)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			GAAATGGGAACGCGTAACTGA	0.353													.|||	3	0.000599042	0.0008	0.0	5008	,	,		18708	0.0		0.002	False		,,,				2504	0.0																0																																										SO:0001583	missense	90827			AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"""Zinc fingers, C2H2-type"", ""-"""	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.269G>A	7.37:g.57188853C>T	ENSP00000333776:p.Arg90His			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.R90H	ENST00000331162.4	37	c.269	CCDS43590.1	7	.	.	.	.	.	.	.	.	.	.	t	0.009	-1.853587	0.00558	.	.	ENSG00000185177	ENST00000331162	T	0.06687	3.27	1.29	-2.58	0.06228	.	.	.	.	.	T	0.05135	0.0137	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38478	-0.9659	9	0.31617	T	0.26	.	3.7811	0.08680	0.0:0.3532:0.2832:0.3636	.	90	Q96JC4	ZN479_HUMAN	H	90	ENSP00000333776:R90H	ENSP00000333776:R90H	R	-	2	0	ZNF479	57192795	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.937000	0.00685	-1.749000	0.01330	-2.008000	0.00441	CGT	ZNF479	-	NULL		0.353	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF479	HGNC	protein_coding	OTTHUMT00000345302.1	C	XM_291202		57188853	-1	no_errors	ENST00000331162	ensembl	human	known	70_37	missense	SNP	0.000	T
ZNF563	147837	genome.wustl.edu	37	19	12429781	12429781	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr19:12429781C>T	ENST00000293725.5	-	4	1263	c.1058G>A	c.(1057-1059)cGa>cAa	p.R353Q		NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	353					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TTCATGATATCGAACTAAACT	0.413																																					GBM(39;623 795 5132 29510 31476)												0													167.0	156.0	160.0					19																	12429781		2203	4300	6503	SO:0001583	missense	147837			BC022523	CCDS12270.1	19p13.2	2013-09-20			ENSG00000188868	ENSG00000188868		"""Zinc fingers, C2H2-type"", ""-"""	30498	protein-coding gene	gene with protein product							Standard	NM_145276		Approved	FLJ34797	uc002mtp.3	Q8TA94	OTTHUMG00000156413	ENST00000293725.5:c.1058G>A	19.37:g.12429781C>T	ENSP00000293725:p.Arg353Gln		B2R9E7|Q8NAT7	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.R353Q	ENST00000293725.5	37	c.1058	CCDS12270.1	19	.	.	.	.	.	.	.	.	.	.	C	0.069	-1.206700	0.01568	.	.	ENSG00000188868	ENST00000293725	T	0.04275	3.66	1.0	-0.137	0.13469	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01627	0.0052	N	0.04297	-0.235	0.09310	N	1	B	0.21520	0.057	B	0.12837	0.008	T	0.45906	-0.9229	9	0.02654	T	1	.	3.4575	0.07521	0.2394:0.577:0.0:0.1836	.	353	Q8TA94	ZN563_HUMAN	Q	353	ENSP00000293725:R353Q	ENSP00000293725:R353Q	R	-	2	0	ZNF563	12290781	0.000000	0.05858	0.001000	0.08648	0.372000	0.29890	-2.040000	0.01416	-0.012000	0.14223	-0.657000	0.03884	CGA	ZNF563	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.413	ZNF563-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF563	HGNC	protein_coding	OTTHUMT00000344114.1	C	NM_145276		12429781	-1	no_errors	ENST00000293725	ensembl	human	known	70_37	missense	SNP	0.000	T
ZNF563	147837	genome.wustl.edu	37	19	12429781	12429781	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr19:12429781C>T	ENST00000293725.5	-	4	1263	c.1058G>A	c.(1057-1059)cGa>cAa	p.R353Q		NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	353					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TTCATGATATCGAACTAAACT	0.413																																					GBM(39;623 795 5132 29510 31476)												0													167.0	156.0	160.0					19																	12429781		2203	4300	6503	SO:0001583	missense	147837			BC022523	CCDS12270.1	19p13.2	2013-09-20			ENSG00000188868	ENSG00000188868		"""Zinc fingers, C2H2-type"", ""-"""	30498	protein-coding gene	gene with protein product							Standard	NM_145276		Approved	FLJ34797	uc002mtp.3	Q8TA94	OTTHUMG00000156413	ENST00000293725.5:c.1058G>A	19.37:g.12429781C>T	ENSP00000293725:p.Arg353Gln		B2R9E7|Q8NAT7	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.R353Q	ENST00000293725.5	37	c.1058	CCDS12270.1	19	.	.	.	.	.	.	.	.	.	.	C	0.069	-1.206700	0.01568	.	.	ENSG00000188868	ENST00000293725	T	0.04275	3.66	1.0	-0.137	0.13469	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01627	0.0052	N	0.04297	-0.235	0.09310	N	1	B	0.21520	0.057	B	0.12837	0.008	T	0.45906	-0.9229	9	0.02654	T	1	.	3.4575	0.07521	0.2394:0.577:0.0:0.1836	.	353	Q8TA94	ZN563_HUMAN	Q	353	ENSP00000293725:R353Q	ENSP00000293725:R353Q	R	-	2	0	ZNF563	12290781	0.000000	0.05858	0.001000	0.08648	0.372000	0.29890	-2.040000	0.01416	-0.012000	0.14223	-0.657000	0.03884	CGA	ZNF563	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.413	ZNF563-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF563	HGNC	protein_coding	OTTHUMT00000344114.1	C	NM_145276		12429781	-1	no_errors	ENST00000293725	ensembl	human	known	70_37	missense	SNP	0.000	T
ZNF577	84765	genome.wustl.edu	37	19	52391205	52391205	+	5'Flank	SNP	G	G	T			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr19:52391205G>T	ENST00000301399.5	-	0	0				ZNF577_ENST00000412216.1_5'Flank|ZNF577_ENST00000420592.1_5'Flank|ZNF577_ENST00000451628.2_5'Flank|CTC-429C10.2_ENST00000600329.1_RNA|ZNF577_ENST00000485702.1_5'UTR	NM_032679.2	NP_116068.2	Q9BSK1	ZN577_HUMAN	zinc finger protein 577						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(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		CGCAAGTTTCGGGGATGGCGG	0.632																																																	0																																										SO:0001631	upstream_gene_variant	84765			AL832871	CCDS12842.2, CCDS46160.1	19q13.41	2013-09-20			ENSG00000161551	ENSG00000161551		"""Zinc fingers, C2H2-type"", ""-"""	28673	protein-coding gene	gene with protein product						12477932	Standard	NM_032679		Approved	MGC4400	uc010yde.2	Q9BSK1	OTTHUMG00000157045		19.37:g.52391205G>T	Exception_encountered		A8K0B4|A8K6Z7|C9JFB9	RNA	SNP	-	NULL	ENST00000301399.5	37	NULL	CCDS12842.2	19																																																																																			ZNF577	-	-		0.632	ZNF577-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF577	HGNC	protein_coding	OTTHUMT00000347243.1	G	NM_032679		52391205	-1	no_errors	ENST00000485702	ensembl	human	known	70_37	rna	SNP	0.000	T
ZNF595	152687	genome.wustl.edu	37	4	85996	85997	+	3'UTR	INS	-	-	C			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr4:85996_85997insC	ENST00000339368.6	+	0	805_806							Q8IYB9	ZN595_HUMAN	zinc finger protein 595						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(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		GAAACCCTACAATGTGAAAAAT	0.406																																																	0										3582,324		1641,300,12						-0.1	0.1		dbSNP_129	12	7311,695		3331,649,23	no	frameshift	ZNF595	NM_182524.2		4972,949,35	A1A1,A1R,RR		8.681,8.2949,8.5544				10893,1019				SO:0001624	3_prime_UTR_variant	152687			BX537887	CCDS75075.1, CCDS75076.1, CCDS75077.1	4p16.3	2013-01-08				ENSG00000272602		"""Zinc fingers, C2H2-type"", ""-"""	27196	protein-coding gene	gene with protein product						12477932	Standard	NM_182524		Approved	FLJ31740		Q8IYB9		ENST00000339368.6:c.*803->C	4.37:g.85996_85997insC				RNA	INS	-	NULL	ENST00000339368.6	37	NULL		4																																																																																			ZNF595	-	-		0.406	ZNF595-001	KNOWN	basic	processed_transcript	ZNF595	HGNC	protein_coding	OTTHUMT00000357814.2	-	NM_182524		85997	+1	no_errors	ENST00000339368	ensembl	human	known	70_37	rna	INS	0.001:0.009	C
ZNF839	55778	genome.wustl.edu	37	14	102793113	102793113	+	Silent	SNP	G	G	A	rs375280717		TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr14:102793113G>A	ENST00000558850.1	+	2	1082	c.732G>A	c.(730-732)acG>acA	p.T244T	ZNF839_ENST00000442396.2_Silent_p.T360T|ZNF839_ENST00000559185.1_Silent_p.T244T|ZNF839_ENST00000262236.5_Silent_p.T244T	NM_001267827.1	NP_001254756.1	A8K0R7	ZN839_HUMAN	zinc finger protein 839	244							metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						GGGGGTGCACGGAGGAAAGGA	0.632																																																	0								G		1,3955		0,1,1977	19.0	20.0	20.0		1080	-1.5	0.0	14		20	0,8316		0,0,4158	no	coding-synonymous	ZNF839	NM_018335.3		0,1,6135	AA,AG,GG		0.0,0.0253,0.0081		360/928	102793113	1,12271	1978	4158	6136	SO:0001819	synonymous_variant	55778			AK093342	CCDS45164.1, CCDS58336.1	14q32.32	2010-05-06	2008-06-23	2008-06-23	ENSG00000022976	ENSG00000022976			20345	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 131"""	C14orf131			Standard	NM_018335		Approved		uc010awk.2	A8K0R7		ENST00000558850.1:c.732G>A	14.37:g.102793113G>A			B3KSD2|Q53FH5|Q6GPI5|Q86TU1|Q9BQ86|Q9NUU3	Silent	SNP	pfscan_Znf_C2H2	p.T360	ENST00000558850.1	37	c.1080	CCDS58336.1	14																																																																																			ZNF839	-	NULL		0.632	ZNF839-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF839	HGNC	protein_coding	OTTHUMT00000415492.2	G	NM_018335		102793113	+1	no_errors	ENST00000442396	ensembl	human	known	70_37	silent	SNP	0.002	A
ZNF839	55778	genome.wustl.edu	37	14	102793113	102793113	+	Silent	SNP	G	G	A	rs375280717		TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr14:102793113G>A	ENST00000558850.1	+	2	1082	c.732G>A	c.(730-732)acG>acA	p.T244T	ZNF839_ENST00000442396.2_Silent_p.T360T|ZNF839_ENST00000559185.1_Silent_p.T244T|ZNF839_ENST00000262236.5_Silent_p.T244T	NM_001267827.1	NP_001254756.1	A8K0R7	ZN839_HUMAN	zinc finger protein 839	244							metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						GGGGGTGCACGGAGGAAAGGA	0.632																																																	0								G		1,3955		0,1,1977	19.0	20.0	20.0		1080	-1.5	0.0	14		20	0,8316		0,0,4158	no	coding-synonymous	ZNF839	NM_018335.3		0,1,6135	AA,AG,GG		0.0,0.0253,0.0081		360/928	102793113	1,12271	1978	4158	6136	SO:0001819	synonymous_variant	55778			AK093342	CCDS45164.1, CCDS58336.1	14q32.32	2010-05-06	2008-06-23	2008-06-23	ENSG00000022976	ENSG00000022976			20345	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 131"""	C14orf131			Standard	NM_018335		Approved		uc010awk.2	A8K0R7		ENST00000558850.1:c.732G>A	14.37:g.102793113G>A			B3KSD2|Q53FH5|Q6GPI5|Q86TU1|Q9BQ86|Q9NUU3	Silent	SNP	pfscan_Znf_C2H2	p.T360	ENST00000558850.1	37	c.1080	CCDS58336.1	14																																																																																			ZNF839	-	NULL		0.632	ZNF839-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF839	HGNC	protein_coding	OTTHUMT00000415492.2	G	NM_018335		102793113	+1	no_errors	ENST00000442396	ensembl	human	known	70_37	silent	SNP	0.002	A
ZW10	9183	genome.wustl.edu	37	11	113631297	113631297	+	Nonsense_Mutation	SNP	C	C	A			TCGA-C5-A1ML-01A-11D-A14W-08	TCGA-C5-A1ML-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	91a214f1-6376-43ff-bd4f-e1ae22fa2315	428b7c23-dee0-4bb4-acac-4fd6042ce07d	g.chr11:113631297C>A	ENST00000200135.3	-	4	502	c.358G>T	c.(358-360)Gaa>Taa	p.E120*		NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	120	Interaction with RINT1.				ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic metaphase plate congression (GO:0007080)|mitotic sister chromatid segregation (GO:0000070)|protein complex assembly (GO:0006461)|protein localization to kinetochore (GO:0034501)|protein transport (GO:0015031)|regulation of exit from mitosis (GO:0007096)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|nucleus (GO:0005634)|spindle pole (GO:0000922)	centromeric DNA binding (GO:0019237)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		TTATATTCTTCAATAGCAGTG	0.363																																																	0													128.0	128.0	128.0					11																	113631297		2201	4296	6497	SO:0001587	stop_gained	9183			U54996	CCDS8363.1	11q23	2013-01-17	2012-12-13		ENSG00000086827	ENSG00000086827			13194	protein-coding gene	gene with protein product		603954	"""ZW10 (Drosophila) homolog, centromere/kinetochore protein"", ""ZW10, kinetochore associated, homolog (Drosophila)"""			9298984	Standard	NM_004724		Approved	KNTC1AP	uc001poe.3	O43264	OTTHUMG00000168190	ENST00000200135.3:c.358G>T	11.37:g.113631297C>A	ENSP00000200135:p.Glu120*		A1A528	Nonsense_Mutation	SNP	pfam_RZZ-complex_Zw10	p.E120*	ENST00000200135.3	37	c.358	CCDS8363.1	11	.	.	.	.	.	.	.	.	.	.	C	28.7	4.940762	0.92526	.	.	ENSG00000086827	ENST00000200135	.	.	.	5.26	5.26	0.73747	.	0.045209	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	-20.1179	9.011	0.36142	0.0:0.8992:0.0:0.1008	.	.	.	.	X	120	.	ENSP00000200135:E120X	E	-	1	0	ZW10	113136507	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.581000	0.46077	2.745000	0.94114	0.484000	0.47621	GAA	ZW10	-	pfam_RZZ-complex_Zw10		0.363	ZW10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZW10	HGNC	protein_coding	OTTHUMT00000398700.1	C	NM_004724		113631297	-1	no_errors	ENST00000200135	ensembl	human	known	70_37	nonsense	SNP	1.000	A
