#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_EVS_AA	i_EVS_All	i_EVS_EA	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_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	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_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ABCA13	154664	genome.wustl.edu	37	7	48567933	48567933	+	Silent	SNP	T	T	A			TCGA-B6-A0IB-01A-11W-A050-09	TCGA-B6-A0IB-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ff80d5cd-7aed-499f-a472-153cc40f65de	0caeac20-293e-4c97-8074-3f9d78e5ef3e	g.chr7:48567933T>A	ENST00000435803.1	+	55	14370	c.14346T>A	c.(14344-14346)acT>acA	p.T4782T	ABCA13_ENST00000544596.1_Silent_p.T512T	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4782	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.T4782T(1)|p.T4727T(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TCATCAGGACTCCCATGGGGT	0.433																																						dbGAP											2	Substitution - coding silent(2)	breast(2)											65.0	59.0	61.0					7																	48567933		1937	4153	6090	-	-	-	SO:0001819	synonymous_variant	0			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.14346T>A	7.37:g.48567933T>A			K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.S1048T	ENST00000435803.1	37	c.3142	CCDS47584.1	7																																																																																			ABCA13	-	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000179869		0.433	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	HGNC	protein_coding	OTTHUMT00000341964.2	217	0.00	0	T	NM_152701		48567933	48567933	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000453246	ensembl	human	known	69_37n	missense	315	10.23	36	SNP	0.166	A
ABCB1	5243	genome.wustl.edu	37	7	87175263	87175263	+	Silent	SNP	G	G	A	rs147451192		TCGA-B6-A0IB-01A-11W-A050-09	TCGA-B6-A0IB-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ff80d5cd-7aed-499f-a472-153cc40f65de	0caeac20-293e-4c97-8074-3f9d78e5ef3e	g.chr7:87175263G>A	ENST00000265724.3	-	16	2220	c.1803C>T	c.(1801-1803)ttC>ttT	p.F601F	ABCB1_ENST00000543898.1_Silent_p.F537F	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	601	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)	p.F601F(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	CTCCATCATCGAAACCAGCGA	0.403																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											152.0	129.0	137.0					7																	87175263		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.1803C>T	7.37:g.87175263G>A			A8K294|B5AK60|Q12755|Q14812	Silent	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.F601	ENST00000265724.3	37	c.1803	CCDS5608.1	7																																																																																			ABCB1	-	smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000085563		0.403	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB1	HGNC	protein_coding	OTTHUMT00000335444.2	136	0.00	0	G	NM_000927		87175263	87175263	-1	no_errors	ENST00000265724	ensembl	human	known	69_37n	silent	174	15.53	32	SNP	1.000	A
ANKRD11	29123	genome.wustl.edu	37	16	89347633	89347633	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B6-A0IB-01A-11W-A050-09	TCGA-B6-A0IB-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ff80d5cd-7aed-499f-a472-153cc40f65de	0caeac20-293e-4c97-8074-3f9d78e5ef3e	g.chr16:89347633C>A	ENST00000301030.4	-	9	5777	c.5317G>T	c.(5317-5319)Gaa>Taa	p.E1773*	ANKRD11_ENST00000378330.2_Nonsense_Mutation_p.E1773*	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1773					bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.E1773*(1)		breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CTGGCGTTTTCCGAAAGCCCA	0.632																																						dbGAP											1	Substitution - Nonsense(1)	breast(1)											35.0	37.0	37.0					16																	89347633		2198	4300	6498	-	-	-	SO:0001587	stop_gained	0			AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.5317G>T	16.37:g.89347633C>A	ENSP00000301030:p.Glu1773*		Q6NTG1|Q6QMF8	Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.E1773*	ENST00000301030.4	37	c.5317	CCDS32513.1	16	.	.	.	.	.	.	.	.	.	.	c	45	11.485400	0.99566	.	.	ENSG00000167522	ENST00000301030;ENST00000378330	.	.	.	4.9	4.9	0.64082	.	0.165432	0.40064	N	0.001187	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	16.8476	0.85985	0.0:1.0:0.0:0.0	.	.	.	.	X	1773	.	ENSP00000301030:E1773X	E	-	1	0	ANKRD11	87875134	1.000000	0.71417	0.051000	0.19133	0.021000	0.10359	6.975000	0.76128	2.266000	0.75297	0.457000	0.33378	GAA	ANKRD11	-	NULL	ENSG00000167522		0.632	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD11	HGNC	protein_coding	OTTHUMT00000430462.3	95	0.00	0	C	NM_013275		89347633	89347633	-1	no_errors	ENST00000301030	ensembl	human	known	69_37n	nonsense	34	20.93	9	SNP	0.999	A
ANKRD32	84250	genome.wustl.edu	37	5	94014648	94014648	+	Missense_Mutation	SNP	C	C	G			TCGA-B6-A0IB-01A-11W-A050-09	TCGA-B6-A0IB-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ff80d5cd-7aed-499f-a472-153cc40f65de	0caeac20-293e-4c97-8074-3f9d78e5ef3e	g.chr5:94014648C>G	ENST00000265140.5	+	15	2382	c.1963C>G	c.(1963-1965)Ctt>Gtt	p.L655V		NM_032290.3	NP_115666.2	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32	655						centrosome (GO:0005813)|nucleus (GO:0005634)		p.L19V(1)|p.L655V(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		TTATGTTTCTCTTTCGTGTGA	0.343																																						dbGAP											2	Substitution - Missense(2)	breast(2)											284.0	248.0	260.0					5																	94014648		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL136560	CCDS4071.2	5q15	2013-01-10			ENSG00000133302	ENSG00000133302		"""Ankyrin repeat domain containing"""	25408	protein-coding gene	gene with protein product			"""BRCT domain containing 1"""	BRCTD1			Standard	NM_032290		Approved	DKFZp761C121, DKFZp564C0469	uc003kkr.4	Q9BQI6	OTTHUMG00000121133	ENST00000265140.5:c.1963C>G	5.37:g.94014648C>G	ENSP00000265140:p.Leu655Val		B4DMG4|Q3B7K4|Q6NSA5|Q6PHW9|Q9Y402	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_BRCT_dom,smart_BRCT_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.L655V	ENST00000265140.5	37	c.1963	CCDS4071.2	5	.	.	.	.	.	.	.	.	.	.	C	6.885	0.532719	0.13127	.	.	ENSG00000133302	ENST00000265140	T	0.38077	1.16	5.71	2.8	0.32819	.	0.228549	0.31031	N	0.008400	T	0.20170	0.0485	L	0.28274	0.84	0.29712	N	0.839315	B	0.21753	0.06	B	0.17098	0.017	T	0.06881	-1.0802	10	0.27785	T	0.31	.	4.767	0.13137	0.1968:0.5302:0.1956:0.0774	.	655	Q9BQI6	ANR32_HUMAN	V	655	ENSP00000265140:L655V	ENSP00000265140:L655V	L	+	1	0	ANKRD32	94040404	0.989000	0.36119	1.000000	0.80357	0.986000	0.74619	0.707000	0.25704	1.379000	0.46325	0.557000	0.71058	CTT	ANKRD32	-	NULL	ENSG00000133302		0.343	ANKRD32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD32	HGNC	protein_coding	OTTHUMT00000241610.1	378	0.00	0	C	NM_032290		94014648	94014648	+1	no_errors	ENST00000265140	ensembl	human	known	69_37n	missense	228	22.64	67	SNP	0.994	G
ATG9B	285973	genome.wustl.edu	37	7	150718275	150718276	+	Splice_Site	INS	-	-	G	rs201977926		TCGA-B6-A0IB-01A-11W-A050-09	TCGA-B6-A0IB-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ff80d5cd-7aed-499f-a472-153cc40f65de	0caeac20-293e-4c97-8074-3f9d78e5ef3e	g.chr7:150718275_150718276insG	ENST00000377974.2	-	5	1037_1038	c.962_963insC	c.(961-963)ccg>ccCg	p.P321fs	ATG9B_ENST00000444312.1_Splice_Site_p.R59fs|ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000605952.1_Splice_Site_p.P321fs|ATG9B_ENST00000605938.1_Splice_Site_p.P321fs			Q674R7	ATG9B_HUMAN	autophagy related 9B	321					autophagic vacuole assembly (GO:0000045)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCCAGCTCACCGGGGGGATGTG	0.609																																						dbGAP											0																																										-	-	-	SO:0001630	splice_region_variant	0			AK027791		7q36	2014-02-12	2012-06-06	2005-09-11	ENSG00000181652	ENSG00000181652			21899	protein-coding gene	gene with protein product		612205	"""nitric oxide synthase 3 antisense"", ""ATG9 autophagy related 9 homolog B (S. cerevisiae)"""	NOS3AS		15234981, 15755735	Standard	NM_173681		Approved	FLJ14885, APG9L2, SONE	uc011kvc.2	Q674R7	OTTHUMG00000158634	ENST00000377974.2:c.963+1->C	7.37:g.150718281_150718281dupG			A1A5D3|Q6JRW5|Q8N8I8	RNA	INS	-	NULL	ENST00000377974.2	37	NULL		7																																																																																			ATG9B	-	-	ENSG00000181652		0.609	ATG9B-201	KNOWN	basic|appris_principal	protein_coding	ATG9B	HGNC	protein_coding		50	0.00	0	-	NM_173681	Frame_Shift_Ins	150718275	150718276	-1	no_errors	ENST00000377974	ensembl	human	known	69_37n	rna	24	11.11	3	INS	1.000:1.000	G
ATP1A1	476	genome.wustl.edu	37	1	116936238	116936238	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A0IB-01A-11W-A050-09	TCGA-B6-A0IB-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ff80d5cd-7aed-499f-a472-153cc40f65de	0caeac20-293e-4c97-8074-3f9d78e5ef3e	g.chr1:116936238G>A	ENST00000295598.5	+	12	1805	c.1553G>A	c.(1552-1554)tGc>tAc	p.C518Y	ATP1A1_ENST00000369496.4_Missense_Mutation_p.C487Y|ATP1A1_ENST00000537345.1_Missense_Mutation_p.C518Y	NM_000701.7	NP_000692.2	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	518					ATP biosynthetic process (GO:0006754)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|membrane hyperpolarization (GO:0060081)|membrane repolarization (GO:0086009)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of glucocorticoid biosynthetic process (GO:0031947)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart contraction (GO:0045823)|positive regulation of striated muscle contraction (GO:0045989)|potassium ion import (GO:0010107)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of sodium ion transport (GO:0002028)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|chaperone binding (GO:0051087)|phosphatase activity (GO:0016791)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)	p.C518Y(1)		NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Ciclopirox(DB01188)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Ethacrynic acid(DB00903)|Hydroflumethiazide(DB00774)|Ouabain(DB01092)|Trichlormethiazide(DB01021)	CTAGACCGTTGCAGCTCTATC	0.552																																						dbGAP											1	Substitution - Missense(1)	breast(1)											81.0	87.0	85.0					1																	116936238		2203	4300	6503	-	-	-	SO:0001583	missense	0			D00099	CCDS887.1, CCDS53351.1, CCDS53352.1	1p13	2012-10-22			ENSG00000163399	ENSG00000163399	3.6.3.9	"""ATPases / P-type"""	799	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-1"", ""sodium pump subunit alpha-1"", ""sodium-potassium ATPase catalytic subunit alpha-1"""	182310					Standard	NM_000701		Approved		uc001ege.3	P05023	OTTHUMG00000012109	ENST00000295598.5:c.1553G>A	1.37:g.116936238G>A	ENSP00000295598:p.Cys518Tyr		B2RBR6|B7Z2T5|B7Z3U6|F5H3A1|Q16689|Q6LDM4|Q9UCN1|Q9UJ20|Q9UJ21	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr	p.C518Y	ENST00000295598.5	37	c.1553	CCDS887.1	1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.678314	0.88542	.	.	ENSG00000163399	ENST00000295598;ENST00000537345;ENST00000339159;ENST00000369496	D;D;D	0.86366	-2.11;-2.11;-2.11	4.63	4.63	0.57726	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.96337	0.8805	H	0.99058	4.415	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.81914	0.992;0.995	D	0.97988	1.0353	10	0.87932	D	0	.	18.0377	0.89309	0.0:0.0:1.0:0.0	.	518;518	F5H3A1;P05023	.;AT1A1_HUMAN	Y	518;518;517;487	ENSP00000295598:C518Y;ENSP00000445306:C518Y;ENSP00000358508:C487Y	ENSP00000295598:C518Y	C	+	2	0	ATP1A1	116737761	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.492000	0.97957	2.562000	0.86427	0.650000	0.86243	TGC	ATP1A1	-	pfam_Dehalogen-like_hydro,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_cation-ex_asu_euk	ENSG00000163399		0.552	ATP1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATP1A1	HGNC	protein_coding	OTTHUMT00000033481.5	290	0.00	0	G	NM_001160233		116936238	116936238	+1	no_errors	ENST00000295598	ensembl	human	known	69_37n	missense	228	27.39	86	SNP	1.000	A
BMP15	9210	genome.wustl.edu	37	X	50654112	50654112	+	Splice_Site	SNP	G	G	A			TCGA-B6-A0IB-01A-11W-A050-09	TCGA-B6-A0IB-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ff80d5cd-7aed-499f-a472-153cc40f65de	0caeac20-293e-4c97-8074-3f9d78e5ef3e	g.chrX:50654112G>A	ENST00000252677.3	+	1	328		c.e1+1			NM_005448.2	NP_005439.2	O95972	BMP15_HUMAN	bone morphogenetic protein 15						female gamete generation (GO:0007292)|granulosa cell development (GO:0060016)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					CCTCACAGAGGTGAGTTGTTA	0.552																																						dbGAP											0													13.0	7.0	9.0					X																	50654112		2173	4229	6402	-	-	-	SO:0001630	splice_region_variant	0			AF082349	CCDS14334.1	Xp11.2	2013-02-06			ENSG00000130385	ENSG00000130385		"""Bone morphogenetic proteins"""	1068	protein-coding gene	gene with protein product		300247				9849956	Standard	NM_005448		Approved	GDF9B	uc011mnw.2	O95972	OTTHUMG00000021525	ENST00000252677.3:c.328+1G>A	X.37:g.50654112G>A			Q17RM6|Q5JST1|Q9UMS1	Splice_Site	SNP	-	e1+1	ENST00000252677.3	37	c.328+1	CCDS14334.1	X	.	.	.	.	.	.	.	.	.	.	G	11.28	1.593204	0.28357	.	.	ENSG00000130385	ENST00000252677	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9044	0.63826	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BMP15	50670852	1.000000	0.71417	1.000000	0.80357	0.200000	0.23975	6.240000	0.72363	2.354000	0.79902	0.600000	0.82982	.	BMP15	-	-	ENSG00000130385		0.552	BMP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMP15	HGNC	protein_coding	OTTHUMT00000056572.1	9	0.00	0	G	NM_005448	Intron	50654112	50654112	+1	no_errors	ENST00000252677	ensembl	human	known	69_37n	splice_site	9	30.77	4	SNP	1.000	A
ELMSAN1	91748	genome.wustl.edu	37	14	74205696	74205696	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B6-A0IB-01A-11W-A050-09	TCGA-B6-A0IB-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ff80d5cd-7aed-499f-a472-153cc40f65de	0caeac20-293e-4c97-8074-3f9d78e5ef3e	g.chr14:74205696delT	ENST00000286523.5	-	2	1798	c.1016delA	c.(1015-1017)cagfs	p.Q339fs	ELMSAN1_ENST00000486739.1_5'Flank|ELMSAN1_ENST00000394071.2_Frame_Shift_Del_p.Q339fs	NM_194278.3	NP_919254.2	Q6PJG2	EMSA1_HUMAN	ELM2 and Myb/SANT-like domain containing 1	339	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)										GAAGGGGATCTGGACCTGAGG	0.677																																						dbGAP											0													20.0	22.0	21.0					14																	74205696		2198	4295	6493	-	-	-	SO:0001589	frameshift_variant	0			BF971739	CCDS9819.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000156030	ENSG00000156030			19853	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 117"", ""chromosome 14 open reading frame 43"""	C14orf117, C14orf43			Standard	NM_194278		Approved	LSR68	uc001xou.3	Q6PJG2	OTTHUMG00000150359	ENST00000286523.5:c.1016delA	14.37:g.74205696delT	ENSP00000286523:p.Gln339fs		Q6PK13|Q6PK59|Q6ZS23	Frame_Shift_Del	DEL	pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom	p.Q339fs	ENST00000286523.5	37	c.1016	CCDS9819.1	14																																																																																			C14orf43	-	NULL	ENSG00000156030		0.677	ELMSAN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	C14orf43	HGNC	protein_coding	OTTHUMT00000317793.1	34	0.00	0	T	NM_194278		74205696	74205696	-1	no_errors	ENST00000286523	ensembl	human	known	69_37n	frame_shift_del	30	14.63	6	DEL	1.000	-
C5orf52	100190949	genome.wustl.edu	37	5	157102201	157102202	+	In_Frame_Ins	INS	-	-	CTT			TCGA-B6-A0IB-01A-11W-A050-09	TCGA-B6-A0IB-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ff80d5cd-7aed-499f-a472-153cc40f65de	0caeac20-293e-4c97-8074-3f9d78e5ef3e	g.chr5:157102201_157102202insCTT	ENST00000409999.3	+	2	376_377	c.314_315insCTT	c.(313-318)gagatg>gaCTTgatg	p.105_105E>DL		NM_001145132.1	NP_001138604.1	A6NGY3	CE052_HUMAN	chromosome 5 open reading frame 52	105										endometrium(2)|lung(1)	3						CGAATCTATGAGATGGAGGTAA	0.401																																						dbGAP											0																																										-	-	-	SO:0001652	inframe_insertion	0			BG721329	CCDS47329.1	5q33.3	2012-02-24			ENSG00000187658	ENSG00000187658			35121	protein-coding gene	gene with protein product							Standard	NM_001145132		Approved		uc011ddt.2	A6NGY3	OTTHUMG00000154518	Exception_encountered	5.37:g.157102201_157102202insCTT	ENSP00000387027:p.Glu105delinsAspLeu			In_Frame_Ins	INS	NULL	p.E105in_frame_insDL	ENST00000409999.3	37	c.314_315	CCDS47329.1	5																																																																																			C5orf52	-	NULL	ENSG00000187658		0.401	C5orf52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C5orf52	HGNC	protein_coding	OTTHUMT00000335664.1	123	0.00	0	-	NM_001145132		157102201	157102202	+1	no_errors	ENST00000409999	ensembl	human	known	69_37n	in_frame_ins	83	30.25	36	INS	0.987:0.974	CTT
C5orf52	100190949	genome.wustl.edu	37	5	157102203	157102204	+	Frame_Shift_Ins	INS	-	-	AC			TCGA-B6-A0IB-01A-11W-A050-09	TCGA-B6-A0IB-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ff80d5cd-7aed-499f-a472-153cc40f65de	0caeac20-293e-4c97-8074-3f9d78e5ef3e	g.chr5:157102203_157102204insAC	ENST00000409999.3	+	2	378_379	c.316_317insAC	c.(316-318)atgfs	p.M106fs		NM_001145132.1	NP_001138604.1	A6NGY3	CE052_HUMAN	chromosome 5 open reading frame 52	106										endometrium(2)|lung(1)	3						AATCTATGAGATGGAGGTAAAG	0.401																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BG721329	CCDS47329.1	5q33.3	2012-02-24			ENSG00000187658	ENSG00000187658			35121	protein-coding gene	gene with protein product							Standard	NM_001145132		Approved		uc011ddt.2	A6NGY3	OTTHUMG00000154518	Exception_encountered	5.37:g.157102203_157102204insAC	ENSP00000387027:p.Met106fs			Frame_Shift_Ins	INS	NULL	p.M106fs	ENST00000409999.3	37	c.316_317	CCDS47329.1	5																																																																																			C5orf52	-	NULL	ENSG00000187658		0.401	C5orf52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C5orf52	HGNC	protein_coding	OTTHUMT00000335664.1	121	0.00	0	-	NM_001145132		157102203	157102204	+1	no_errors	ENST00000409999	ensembl	human	known	69_37n	frame_shift_ins	72	33.33	36	INS	0.970:0.974	AC
CACNG2	10369	genome.wustl.edu	37	22	36983554	36983554	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A0IB-01A-11W-A050-09	TCGA-B6-A0IB-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ff80d5cd-7aed-499f-a472-153cc40f65de	0caeac20-293e-4c97-8074-3f9d78e5ef3e	g.chr22:36983554C>T	ENST00000300105.6	-	2	1234	c.253G>A	c.(253-255)Gag>Aag	p.E85K	CACNG2_ENST00000480002.1_5'Flank	NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	85					membrane depolarization (GO:0051899)|membrane hyperpolarization (GO:0060081)|neuromuscular junction development (GO:0007528)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.E85K(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						TCTGCATCCTCTGGGAAGTGA	0.498																																						dbGAP											1	Substitution - Missense(1)	breast(1)											210.0	182.0	191.0					22																	36983554		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF096322	CCDS13931.1	22q13.1	2006-08-01			ENSG00000166862	ENSG00000166862		"""Calcium channel subunits"""	1406	protein-coding gene	gene with protein product		602911					Standard	NM_006078		Approved	stargazin, MGC138502, MGC138504	uc003aps.2	Q9Y698	OTTHUMG00000030612	ENST00000300105.6:c.253G>A	22.37:g.36983554C>T	ENSP00000300105:p.Glu85Lys		Q2M1M1|Q5TGT3|Q9UGZ7	Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu,prints_VDCC_g2su,prints_Claudin	p.E85K	ENST00000300105.6	37	c.253	CCDS13931.1	22	.	.	.	.	.	.	.	.	.	.	C	28.9	4.963902	0.92791	.	.	ENSG00000166862	ENST00000300105	D	0.89485	-2.52	4.41	4.41	0.53225	.	0.000000	0.85682	D	0.000000	D	0.88804	0.6536	M	0.72576	2.205	0.80722	D	1	P	0.37594	0.601	B	0.38458	0.274	D	0.90338	0.4357	10	0.62326	D	0.03	-11.7938	16.1253	0.81392	0.0:1.0:0.0:0.0	.	85	Q9Y698	CCG2_HUMAN	K	85	ENSP00000300105:E85K	ENSP00000300105:E85K	E	-	1	0	CACNG2	35313500	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	6.954000	0.76001	2.153000	0.67306	0.561000	0.74099	GAG	CACNG2	-	pfam_PMP22/EMP/MP20/Claudin	ENSG00000166862		0.498	CACNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNG2	HGNC	protein_coding	OTTHUMT00000075500.2	268	0.00	0	C			36983554	36983554	-1	no_errors	ENST00000300105	ensembl	human	known	69_37n	missense	243	15.33	44	SNP	0.451	T
CDC42BPA	8476	genome.wustl.edu	37	1	227182616	227182616	+	Missense_Mutation	SNP	G	G	A	rs532891873		TCGA-B6-A0IB-01A-11W-A050-09	TCGA-B6-A0IB-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ff80d5cd-7aed-499f-a472-153cc40f65de	0caeac20-293e-4c97-8074-3f9d78e5ef3e	g.chr1:227182616G>A	ENST00000366769.3	-	35	6227	c.4936C>T	c.(4936-4938)Cgg>Tgg	p.R1646W	CDC42BPA_ENST00000366765.3_Missense_Mutation_p.R1659W|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.R1618W|RP5-1087E8.3_ENST00000433837.1_RNA|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.R1565W|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.R1708W|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.R1681W|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.R1626W	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)									p.R1646W(1)|p.R1681W(1)|p.R1565W(1)		NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				ATGGGCTGCCGCTTGGCACTG	0.547													g|||	1	0.000199681	0.0	0.0	5008	,	,		19814	0.0		0.0	False		,,,				2504	0.001					dbGAP											3	Substitution - Missense(3)	breast(3)											109.0	104.0	105.0					1																	227182616		2203	4300	6503	-	-	-	SO:0001583	missense	0			U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"""myotonic dystrophy kinase-related Cdc42-binding kinase"""	603412	"""CDC42-binding protein kinase alpha (DMPK-like)"""				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.4936C>T	1.37:g.227182616G>A	ENSP00000355731:p.Arg1646Trp			Missense_Mutation	SNP	pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Pkinase_C,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,superfamily_WD40_repeat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.R1708W	ENST00000366769.3	37	c.5122	CCDS1558.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	16.06|16.06	3.017110|3.017110	0.54576|0.54576	.|.	.|.	ENSG00000143776|ENSG00000143776	ENST00000448940;ENST00000442054|ENST00000366769;ENST00000366767;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000535525;ENST00000366765	.|T;T;T;T;T;T;T	.|0.76448	.|-0.36;-0.35;-1.02;-0.34;-0.42;-0.39;-0.33	5.09|5.09	3.13|3.13	0.36017|0.36017	.|.	.|0.465366	.|0.22640	.|N	.|0.057480	T|T	0.70509|0.70509	0.3232|0.3232	L|L	0.55990|0.55990	1.75|1.75	0.43531|0.43531	D|D	0.995818|0.995818	.|B;B;B;B;B;B	.|0.23249	.|0.002;0.007;0.082;0.007;0.002;0.003	.|B;B;B;B;B;B	.|0.15870	.|0.0;0.0;0.014;0.001;0.001;0.003	T|T	0.64918|0.64918	-0.6294|-0.6294	5|10	.|0.51188	.|T	.|0.08	.|.	9.7576|9.7576	0.40513|0.40513	0.0793:0.1393:0.7814:0.0|0.0793:0.1393:0.7814:0.0	.|.	.|1626;1618;1565;1646;1681;910	.|F5H5N0;Q5VT25-4;Q5VT25-3;Q5VT25-5;Q5VT25-2;Q5T799	.|.;.;.;.;.;.	V|W	910;974|1646;1565;1708;1681;1618;1626;1659	.|ENSP00000355731:R1646W;ENSP00000355729:R1565W;ENSP00000335341:R1708W;ENSP00000355728:R1681W;ENSP00000355726:R1618W;ENSP00000443275:R1626W;ENSP00000355727:R1659W	.|ENSP00000335341:R1708W	A|R	-|-	2|1	0|2	CDC42BPA|CDC42BPA	225249239|225249239	1.000000|1.000000	0.71417|0.71417	0.459000|0.459000	0.27081|0.27081	0.870000|0.870000	0.49936|0.49936	6.138000|6.138000	0.71717|0.71717	0.477000|0.477000	0.27464|0.27464	0.651000|0.651000	0.88453|0.88453	GCG|CGG	CDC42BPA	-	NULL	ENSG00000143776		0.547	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42BPA	HGNC	protein_coding	OTTHUMT00000091696.1	156	0.00	0	G	NM_014826		227182616	227182616	-1	no_errors	ENST00000334218	ensembl	human	known	69_37n	missense	134	55.99	173	SNP	1.000	A
CEACAM18	729767	genome.wustl.edu	37	19	51984819	51984819	+	Silent	SNP	C	C	G			TCGA-B6-A0IB-01A-11W-A050-09	TCGA-B6-A0IB-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ff80d5cd-7aed-499f-a472-153cc40f65de	0caeac20-293e-4c97-8074-3f9d78e5ef3e	g.chr19:51984819C>G	ENST00000396477.4	+	3	594	c.573C>G	c.(571-573)gtC>gtG	p.V191V	CEACAM18_ENST00000451626.1_Silent_p.V252V	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	191								p.V191V(1)|p.V252V(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		AGACCCTCGTCATCCTCAGGG	0.493																																						dbGAP											2	Substitution - coding silent(2)	breast(2)											83.0	78.0	80.0					19																	51984819		1992	4178	6170	-	-	-	SO:0001819	synonymous_variant	0					19q13.41	2013-01-29				ENSG00000213822		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	31949	protein-coding gene	gene with protein product							Standard	NM_001278392		Approved		uc002pwv.1	A8MTB9		ENST00000396477.4:c.573C>G	19.37:g.51984819C>G			C9JN24	Silent	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.V252	ENST00000396477.4	37	c.756		19																																																																																			CEACAM18	-	smart_Ig_sub	ENSG00000213822		0.493	CEACAM18-001	PUTATIVE	not_organism_supported|basic|appris_candidate	protein_coding	CEACAM18	HGNC	protein_coding	OTTHUMT00000323114.2	96	0.00	0	C			51984819	51984819	+1	no_errors	ENST00000451626	ensembl	human	known	69_37n	silent	144	13.25	22	SNP	0.002	G
CETP	1071	genome.wustl.edu	37	16	57009014	57009014	+	Splice_Site	SNP	C	C	T			TCGA-B6-A0IB-01A-11W-A050-09	TCGA-B6-A0IB-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ff80d5cd-7aed-499f-a472-153cc40f65de	0caeac20-293e-4c97-8074-3f9d78e5ef3e	g.chr16:57009014C>T	ENST00000566128.1	+	10	1004	c.737C>T	c.(736-738)gCa>gTa	p.A246V	CETP_ENST00000200676.3_Splice_Site_p.A311V|CETP_ENST00000379780.2_Splice_Site_p.A251V					cholesteryl ester transfer protein, plasma									p.A311V(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						TCTTTTCAGGCAGTGCTGGAG	0.542																																						dbGAP											1	Substitution - Missense(1)	breast(1)											86.0	82.0	83.0					16																	57009014		2198	4300	6498	-	-	-	SO:0001630	splice_region_variant	0			M30185	CCDS10772.1, CCDS67032.1	16q13	2012-10-02			ENSG00000087237	ENSG00000087237		"""BPI fold containing"""	1869	protein-coding gene	gene with protein product	"""BPI fold containing family F"""	118470				3600759, 2334701	Standard	NM_000078		Approved	BPIFF	uc002eki.2	P11597	OTTHUMG00000133279	ENST00000566128.1:c.736-1C>T	16.37:g.57009014C>T				Missense_Mutation	SNP	pfam_Lipid-bd_serum_glycop_C,pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C,pirsf_Cholesteryl_ester_transfer	p.A311V	ENST00000566128.1	37	c.932		16	.	.	.	.	.	.	.	.	.	.	C	8.910	0.958597	0.18507	.	.	ENSG00000087237	ENST00000200676;ENST00000379780	T;T	0.09163	3.01;3.01	3.08	-2.66	0.06077	Lipid-binding serum glycoprotein, C-terminal (2);Bactericidal permeability-increasing protein, alpha/beta domain (1);	0.479967	0.20233	U	0.096441	T	0.05502	0.0145	N	0.17082	0.46	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.31806	-0.9930	10	0.29301	T	0.29	-1.0388	9.6341	0.39798	0.434:0.566:0.0:0.0	.	251;311	P11597-2;P11597	.;CETP_HUMAN	V	311;251	ENSP00000200676:A311V;ENSP00000369106:A251V	ENSP00000200676:A311V	A	+	2	0	CETP	55566515	0.000000	0.05858	0.000000	0.03702	0.295000	0.27426	-0.309000	0.08145	-0.882000	0.03987	-0.706000	0.03657	GCA	CETP	-	pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C,pirsf_Cholesteryl_ester_transfer	ENSG00000087237		0.542	CETP-003	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	CETP	HGNC	protein_coding	OTTHUMT00000432305.1	383	0.00	0	C	NM_000078	Missense_Mutation	57009014	57009014	+1	no_errors	ENST00000200676	ensembl	human	known	69_37n	missense	199	20.55	52	SNP	0.006	T
C2	717	genome.wustl.edu	37	6	31911214	31911215	+	Frame_Shift_Ins	INS	-	-	G	rs544657195	byFrequency	TCGA-B6-A0IB-01A-11W-A050-09	TCGA-B6-A0IB-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ff80d5cd-7aed-499f-a472-153cc40f65de	0caeac20-293e-4c97-8074-3f9d78e5ef3e	g.chr6:31911214_31911215insG	ENST00000299367.5	+	12	1753_1754	c.1477_1478insG	c.(1477-1479)cggfs	p.R493fs	CFB_ENST00000456570.1_Frame_Shift_Ins_p.R340fs|C2_ENST00000452323.2_Frame_Shift_Ins_p.R279fs|C2_ENST00000442278.2_Frame_Shift_Ins_p.R361fs|CFB_ENST00000477310.1_Frame_Shift_Ins_p.R264fs|CFB_ENST00000425368.2_5'Flank|CFB_ENST00000556679.1_Frame_Shift_Ins_p.R340fs|C2_ENST00000469372.1_Frame_Shift_Ins_p.R247fs	NM_000063.4	NP_000054.2	P06681	CO2_HUMAN	complement component 2	493	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		AGAGACCTGCCGGGGGGCCCTC	0.589																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS4728.1, CCDS54991.1, CCDS56416.1, CCDS75427.1, CCDS75428.1	6p21.3	2014-09-17			ENSG00000166278	ENSG00000166278		"""Complement system"""	1248	protein-coding gene	gene with protein product		613927					Standard	NM_001145903		Approved		uc011hbs.1	P06681	OTTHUMG00000031190	ENST00000299367.5:c.1483dupG	6.37:g.31911220_31911220dupG	ENSP00000299367:p.Arg493fs		B4DPF3|B4DV20|E9PFN7|O19694|Q13904	Frame_Shift_Ins	INS	pfam_Peptidase_S1_S6,pfam_VWF_A,pfam_Sushi_SCR_CCP,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,smart_VWF_A,smart_Peptidase_S1_S6,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.A342fs	ENST00000299367.5	37	c.1018_1019	CCDS4728.1	6																																																																																			CFB	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6	ENSG00000243649		0.589	C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFB	HGNC	protein_coding	OTTHUMT00000076379.9	8	0.00	0	-			31911214	31911215	+1	no_errors	ENST00000556679	ensembl	human	known	69_37n	frame_shift_ins	4	33.33	2	INS	1.000:0.996	G
COL20A1	57642	genome.wustl.edu	37	20	61959802	61959803	+	Frame_Shift_Ins	INS	-	-	T	rs550584170		TCGA-B6-A0IB-01A-11W-A050-09	TCGA-B6-A0IB-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ff80d5cd-7aed-499f-a472-153cc40f65de	0caeac20-293e-4c97-8074-3f9d78e5ef3e	g.chr20:61959802_61959803insT	ENST00000358894.6	+	34	3833_3834	c.3733_3734insT	c.(3733-3735)ctgfs	p.L1245fs	COL20A1_ENST00000326996.6_Frame_Shift_Ins_p.L1277fs|COL20A1_ENST00000435874.1_Frame_Shift_Ins_p.L1258fs|COL20A1_ENST00000422202.1_Frame_Shift_Ins_p.L1258fs	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	1245					extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					CAGCAAGGCCCTGGTTCCTGGA	0.693																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203		"""Collagens"", ""Fibronectin type III domain containing"""	14670	protein-coding gene	gene with protein product						10819331	Standard	NM_020882		Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000358894.6:c.3734dupT	20.37:g.61959803_61959803dupT	ENSP00000351767:p.Leu1245fs		Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Frame_Shift_Ins	INS	pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.V1278fs	ENST00000358894.6	37	c.3829_3830	CCDS46628.1	20																																																																																			COL20A1	-	NULL	ENSG00000101203		0.693	COL20A1-006	KNOWN	basic|CCDS	protein_coding	COL20A1	HGNC	protein_coding	OTTHUMT00000144595.2	58	0.00	0	-	NM_020882		61959802	61959803	+1	no_errors	ENST00000326996	ensembl	human	known	69_37n	frame_shift_ins	7	22.22	2	INS	0.001:0.004	T
DNAH8	1769	genome.wustl.edu	37	6	38863942	38863942	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A0IB-01A-11W-A050-09	TCGA-B6-A0IB-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ff80d5cd-7aed-499f-a472-153cc40f65de	0caeac20-293e-4c97-8074-3f9d78e5ef3e	g.chr6:38863942G>A	ENST00000359357.3	+	58	8484	c.8230G>A	c.(8230-8232)Gaa>Aaa	p.E2744K	DNAH8_ENST00000441566.1_Missense_Mutation_p.E2708K|DNAH8_ENST00000449981.2_Missense_Mutation_p.E2961K			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	2744					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.E2744K(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TGAGATGCCAGAACCAACTGG	0.388																																						dbGAP											2	Substitution - Missense(2)	breast(2)											146.0	132.0	137.0					6																	38863942		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.8230G>A	6.37:g.38863942G>A	ENSP00000352312:p.Glu2744Lys		O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.E2744K	ENST00000359357.3	37	c.8230		6	.	.	.	.	.	.	.	.	.	.	G	24.0	4.476939	0.84640	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T;T	0.27890	1.64;1.77;1.77;1.77	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.52581	0.1743	M	0.83384	2.64	0.80722	D	1	D	0.76494	0.999	D	0.65987	0.94	T	0.54879	-0.8227	10	0.49607	T	0.09	.	19.4485	0.94857	0.0:0.0:1.0:0.0	.	2744	Q96JB1	DYH8_HUMAN	K	2949;2949;2744;2708	ENSP00000415331:E2949K;ENSP00000333363:E2949K;ENSP00000352312:E2744K;ENSP00000402294:E2708K	ENSP00000333363:E2949K	E	+	1	0	DNAH8	38971920	1.000000	0.71417	0.993000	0.49108	0.312000	0.27988	9.513000	0.98010	2.672000	0.90937	0.591000	0.81541	GAA	DNAH8	-	NULL	ENSG00000124721		0.388	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	DNAH8	HGNC	protein_coding	OTTHUMT00000043574.1	134	0.00	0	G	NM_001206927		38863942	38863942	+1	no_errors	ENST00000359357	ensembl	human	known	69_37n	missense	212	13.47	33	SNP	1.000	A
DPP4	1803	genome.wustl.edu	37	2	162875265	162875265	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A0IB-01A-11W-A050-09	TCGA-B6-A0IB-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ff80d5cd-7aed-499f-a472-153cc40f65de	0caeac20-293e-4c97-8074-3f9d78e5ef3e	g.chr2:162875265G>A	ENST00000360534.3	-	16	1954	c.1394C>T	c.(1393-1395)gCg>gTg	p.A465V	DPP4_ENST00000491591.1_5'Flank	NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	465					cell adhesion (GO:0007155)|endothelial cell migration (GO:0043542)|negative regulation of extracellular matrix disassembly (GO:0010716)|positive regulation of cell proliferation (GO:0008284)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to hypoxia (GO:0001666)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|invadopodium membrane (GO:0071438)|lamellipodium (GO:0030027)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.A465V(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Alogliptin(DB06203)|Atorvastatin(DB01076)|Linagliptin(DB08882)|Liraglutide(DB06655)|Saxagliptin(DB06335)|Sitagliptin(DB01261)|Vildagliptin(DB04876)	ATAATACTTCGCCTCTTTACT	0.473																																						dbGAP											1	Substitution - Missense(1)	breast(1)											131.0	118.0	122.0					2																	162875265		2203	4300	6503	-	-	-	SO:0001583	missense	0			M74777	CCDS2216.1	2q24.2	2013-09-19	2008-08-01		ENSG00000197635	ENSG00000197635	3.4.14.5	"""CD molecules"""	3009	protein-coding gene	gene with protein product		102720	"""dipeptidylpeptidase IV (CD26, adenosine deaminase complexing protein 2)"", ""adenosine deaminase complexing protein 2"""	CD26, ADCP2		8101391	Standard	NM_001935		Approved	DPPIV	uc002ubz.3	P27487	OTTHUMG00000132056	ENST00000360534.3:c.1394C>T	2.37:g.162875265G>A	ENSP00000353731:p.Ala465Val		Q53TN1	Missense_Mutation	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9	p.A465V	ENST00000360534.3	37	c.1394	CCDS2216.1	2	.	.	.	.	.	.	.	.	.	.	G	29.7	5.028166	0.93518	.	.	ENSG00000197635	ENST00000360534	D	0.96011	-3.88	5.78	5.78	0.91487	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.104569	0.64402	D	0.000004	D	0.96864	0.8976	M	0.76838	2.35	0.53688	D	0.999975	D	0.65815	0.995	P	0.53593	0.73	D	0.96629	0.9465	10	0.56958	D	0.05	-26.9104	19.3545	0.94407	0.0:0.0:1.0:0.0	.	465	P27487	DPP4_HUMAN	V	465	ENSP00000353731:A465V	ENSP00000353731:A465V	A	-	2	0	DPP4	162583511	1.000000	0.71417	0.144000	0.22314	0.957000	0.61999	6.703000	0.74633	2.894000	0.99253	0.655000	0.94253	GCG	DPP4	-	pfam_Peptidase_S9B	ENSG00000197635		0.473	DPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPP4	HGNC	protein_coding	OTTHUMT00000255079.2	163	0.00	0	G			162875265	162875265	-1	no_errors	ENST00000360534	ensembl	human	known	69_37n	missense	117	12.03	16	SNP	0.877	A
ENSA	2029	genome.wustl.edu	37	1	150600017	150600017	+	Missense_Mutation	SNP	G	G	C			TCGA-B6-A0IB-01A-11W-A050-09	TCGA-B6-A0IB-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ff80d5cd-7aed-499f-a472-153cc40f65de	0caeac20-293e-4c97-8074-3f9d78e5ef3e	g.chr1:150600017G>C	ENST00000369014.5	-	2	234	c.109C>G	c.(109-111)Cta>Gta	p.L37V	ENSA_ENST00000361631.5_Missense_Mutation_p.L33V|ENSA_ENST00000339643.5_Missense_Mutation_p.L37V|ENSA_ENST00000361532.5_Missense_Mutation_p.L33V|ENSA_ENST00000271690.8_Missense_Mutation_p.L37V|ENSA_ENST00000513281.1_Missense_Mutation_p.L33V|ENSA_ENST00000354702.3_5'UTR|ENSA_ENST00000369009.3_Missense_Mutation_p.L37V|ENSA_ENST00000503345.1_Missense_Mutation_p.L37V|ENSA_ENST00000362052.7_Missense_Mutation_p.L37V|ENSA_ENST00000369016.4_Missense_Mutation_p.L37V|ENSA_ENST00000503241.1_Missense_Mutation_p.L37V|ENSA_ENST00000356527.5_Missense_Mutation_p.L37V			O43768	ENSA_HUMAN	endosulfine alpha	37					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of catalytic activity (GO:0043086)|regulation of catalytic activity (GO:0050790)|regulation of insulin secretion (GO:0050796)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|transport (GO:0006810)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ion channel inhibitor activity (GO:0008200)|phosphatase inhibitor activity (GO:0019212)|potassium channel inhibitor activity (GO:0019870)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase inhibitor activity (GO:0004864)|protein phosphatase type 2A regulator activity (GO:0008601)|receptor binding (GO:0005102)	p.L37V(2)|p.L33V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|lung(1)	4	all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;9.85e-23)|all cancers(9;5.06e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.67e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000701)|LUSC - Lung squamous cell carcinoma(543;0.171)			TTGGCCTTTAGCTTTGCCTCT	0.468																																					Esophageal Squamous(188;763 2078 3002 3411 26027)	dbGAP											3	Substitution - Missense(3)	breast(3)											58.0	56.0	57.0					1																	150600017		2203	4300	6503	-	-	-	SO:0001583	missense	0			X99906	CCDS958.1, CCDS959.1, CCDS960.1, CCDS961.1, CCDS962.1, CCDS963.1, CCDS964.1, CCDS965.1	1q21.3	2010-03-11			ENSG00000143420	ENSG00000143420			3360	protein-coding gene	gene with protein product		603061				9653196	Standard	NM_004436		Approved	MGC4319, MGC8394, MGC78563, ARPP-19e	uc001eve.3	O43768	OTTHUMG00000035004	ENST00000369014.5:c.109C>G	1.37:g.150600017G>C	ENSP00000358010:p.Leu37Val		A8K1Z9|E9PB69|Q5T5H2|Q68D48|Q6FHW0|Q6IAM4|Q6NUL2|Q6VUC6|Q6VUC7|Q6VUC8|Q6VUC9|Q6VUD0|Q6VUD1|Q9NRZ0	Missense_Mutation	SNP	pfam_Endosulphine	p.L37V	ENST00000369014.5	37	c.109	CCDS958.1	1	.	.	.	.	.	.	.	.	.	.	G	19.62	3.861750	0.71949	.	.	ENSG00000143420	ENST00000369016;ENST00000369014;ENST00000369009;ENST00000361532;ENST00000361631;ENST00000339643;ENST00000271690;ENST00000356527;ENST00000502246;ENST00000513281;ENST00000503345;ENST00000503241;ENST00000362052	T	0.63913	-0.07	5.16	5.16	0.70880	.	0.164522	0.41194	D	0.000938	T	0.79275	0.4418	M	0.93854	3.465	0.58432	D	0.999999	D;D;D;D;D;D;D	0.89917	0.995;1.0;1.0;1.0;0.998;0.996;0.998	P;D;D;D;D;D;D	0.91635	0.885;0.996;0.997;0.999;0.962;0.986;0.984	D	0.83795	0.0233	10	0.87932	D	0	.	9.7269	0.40337	0.0942:0.0:0.9058:0.0	.	37;37;37;37;37;33;33	A6NMQ3;O43768-8;E9PB69;O43768;O43768-3;O43768-5;O43768-7	.;.;.;ENSA_HUMAN;.;.;.	V	37;37;37;33;33;37;37;37;37;33;37;37;37	ENSP00000358012:L37V	ENSP00000271690:L37V	L	-	1	2	ENSA	148866641	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.850000	0.62889	2.401000	0.81631	0.561000	0.74099	CTA	ENSA	-	NULL	ENSG00000143420		0.468	ENSA-001	KNOWN	basic|CCDS	protein_coding	ENSA	HGNC	protein_coding	OTTHUMT00000084720.2	46	0.00	0	G	NM_207042		150600017	150600017	-1	no_errors	ENST00000369009	ensembl	human	known	69_37n	missense	72	37.93	44	SNP	1.000	C
FGG	2266	genome.wustl.edu	37	4	155533328	155533328	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A0IB-01A-11W-A050-09	TCGA-B6-A0IB-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ff80d5cd-7aed-499f-a472-153cc40f65de	0caeac20-293e-4c97-8074-3f9d78e5ef3e	g.chr4:155533328C>T	ENST00000336098.3	-	3	187	c.149G>A	c.(148-150)gGc>gAc	p.G50D	FGG_ENST00000404648.3_Missense_Mutation_p.G50D|FGG_ENST00000405164.1_Missense_Mutation_p.G50D|FGG_ENST00000407946.1_Missense_Mutation_p.G50D	NM_021870.2	NP_068656.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	50					blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)	p.G50D(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	ATCTGCAATGCCACAGGTAGT	0.333																																						dbGAP											1	Substitution - Missense(1)	breast(1)											93.0	83.0	86.0					4																	155533328		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3788.1, CCDS47153.1	4q28	2014-09-17			ENSG00000171557	ENSG00000171557		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3694	protein-coding gene	gene with protein product		134850	"""fibrinogen, gamma polypeptide"""				Standard	NM_000509		Approved		uc003ioj.3	P02679	OTTHUMG00000150329	ENST00000336098.3:c.149G>A	4.37:g.155533328C>T	ENSP00000336829:p.Gly50Asp		A8K057|P04469|P04470|Q53Y18|Q96A14|Q96KJ3|Q9UC62|Q9UC63|Q9UCF3	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C,pfam_Fibrinogen_a/b/g_coil_dom,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	p.G50D	ENST00000336098.3	37	c.149	CCDS3788.1	4	.	.	.	.	.	.	.	.	.	.	C	25.3	4.626347	0.87560	.	.	ENSG00000171557	ENST00000404648;ENST00000405164;ENST00000336098;ENST00000407946	T;T;T;T	0.80214	-1.35;-1.35;-1.35;-1.35	6.04	6.04	0.98038	Fibrinogen, alpha/beta/gamma chain, coiled coil domain (2);	0.000000	0.85682	D	0.000000	D	0.90511	0.7027	M	0.81341	2.54	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	D	0.88064	0.2796	10	0.35671	T	0.21	.	20.5792	0.99380	0.0:1.0:0.0:0.0	.	50;50;50;50	C9JC84;P02679;C9JEU5;P02679-2	.;FIBG_HUMAN;.;.	D	50	ENSP00000384860:G50D;ENSP00000384101:G50D;ENSP00000336829:G50D;ENSP00000384552:G50D	ENSP00000336829:G50D	G	-	2	0	FGG	155752778	1.000000	0.71417	0.998000	0.56505	0.944000	0.59088	6.814000	0.75236	2.873000	0.98535	0.561000	0.74099	GGC	FGG	-	pfam_Fibrinogen_a/b/g_coil_dom	ENSG00000171557		0.333	FGG-002	KNOWN	basic|CCDS	protein_coding	FGG	HGNC	protein_coding	OTTHUMT00000317581.1	151	0.00	0	C	NM_021870		155533328	155533328	-1	no_errors	ENST00000336098	ensembl	human	known	69_37n	missense	92	42.14	67	SNP	1.000	T
G6PD	2539	genome.wustl.edu	37	X	153761880	153761880	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A0IB-01A-11W-A050-09	TCGA-B6-A0IB-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ff80d5cd-7aed-499f-a472-153cc40f65de	0caeac20-293e-4c97-8074-3f9d78e5ef3e	g.chrX:153761880C>T	ENST00000393564.2	-	8	887	c.775G>A	c.(775-777)Gtg>Atg	p.V259M	G6PD_ENST00000369620.2_Missense_Mutation_p.V305M|G6PD_ENST00000497281.1_5'Flank|G6PD_ENST00000393562.2_Missense_Mutation_p.V289M	NM_001042351.1	NP_001035810.1	P11413	G6PD_HUMAN	glucose-6-phosphate dehydrogenase	259					carbohydrate metabolic process (GO:0005975)|cellular response to oxidative stress (GO:0034599)|cholesterol biosynthetic process (GO:0006695)|cytokine production (GO:0001816)|erythrocyte maturation (GO:0043249)|glucose 6-phosphate metabolic process (GO:0051156)|glutathione metabolic process (GO:0006749)|lipid metabolic process (GO:0006629)|NADP metabolic process (GO:0006739)|NADPH regeneration (GO:0006740)|negative regulation of protein glutathionylation (GO:0010734)|oxidation-reduction process (GO:0055114)|pentose biosynthetic process (GO:0019322)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|regulation of neuron apoptotic process (GO:0043523)|response to ethanol (GO:0045471)|response to food (GO:0032094)|response to organic cyclic compound (GO:0014070)|ribose phosphate biosynthetic process (GO:0046390)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	glucose binding (GO:0005536)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)	p.V259M(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TTCTGCATCACGTCCCTGGGG	0.602																																						dbGAP											1	Substitution - Missense(1)	breast(1)											104.0	79.0	87.0					X																	153761880		2203	4300	6503	-	-	-	SO:0001583	missense	0			X03674	CCDS14756.2, CCDS44023.1	Xq28	2014-09-17			ENSG00000160211	ENSG00000160211	1.1.1.49		4057	protein-coding gene	gene with protein product		305900				3012556, 2428611	Standard	NM_000402		Approved	G6PD1	uc004flx.1	P11413	OTTHUMG00000024237	ENST00000393564.2:c.775G>A	X.37:g.153761880C>T	ENSP00000377194:p.Val259Met		D3DWX9|Q16000|Q16765|Q8IU70|Q8IU88|Q8IUA6|Q96PQ2	Missense_Mutation	SNP	pfam_G6P_DH_C,pfam_G6P_DH_NAD-bd,pirsf_G6P_DH,prints_G6P_DH	p.V305M	ENST00000393564.2	37	c.913	CCDS44023.1	X	.	.	.	.	.	.	.	.	.	.	C	17.86	3.492820	0.64074	.	.	ENSG00000160211	ENST00000393562;ENST00000291567;ENST00000393564;ENST00000369620;ENST00000439227;ENST00000440967	D;D;D;D;D	0.98234	-4.81;-4.81;-4.81;-4.81;-4.81	5.67	5.67	0.87782	Glucose-6-phosphate dehydrogenase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98046	0.9356	L	0.35854	1.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.988;0.998	D	0.98206	1.0470	10	0.35671	T	0.21	.	15.9801	0.80102	0.0:1.0:0.0:0.0	.	259;289	P11413;P11413-3	G6PD_HUMAN;.	M	289;259;259;305;260;260	ENSP00000377192:V289M;ENSP00000377194:V259M;ENSP00000358633:V305M;ENSP00000395599:V260M;ENSP00000400648:V260M	ENSP00000291567:V259M	V	-	1	0	G6PD	153415074	1.000000	0.71417	0.987000	0.45799	0.131000	0.20780	7.187000	0.77730	2.374000	0.81015	0.422000	0.28245	GTG	G6PD	-	pfam_G6P_DH_C,pirsf_G6P_DH	ENSG00000160211		0.602	G6PD-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	G6PD	HGNC	protein_coding	OTTHUMT00000061170.3	124	0.00	0	C	NM_000402		153761880	153761880	-1	no_errors	ENST00000369620	ensembl	human	known	69_37n	missense	59	20.27	15	SNP	1.000	T
GAB4	128954	genome.wustl.edu	37	22	17451008	17451008	+	Missense_Mutation	SNP	C	C	A			TCGA-B6-A0IB-01A-11W-A050-09	TCGA-B6-A0IB-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ff80d5cd-7aed-499f-a472-153cc40f65de	0caeac20-293e-4c97-8074-3f9d78e5ef3e	g.chr22:17451008C>A	ENST00000400588.1	-	4	869	c.762G>T	c.(760-762)caG>caT	p.Q254H	GAB4_ENST00000523144.1_Intron	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	254								p.Q254H(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				ATCCACTGTGCTGGGCAAGAT	0.537																																						dbGAP											1	Substitution - Missense(1)	breast(1)											89.0	98.0	95.0					22																	17451008		2172	4279	6451	-	-	-	SO:0001583	missense	0			AK057252	CCDS42976.1	22q11.2	2013-01-10			ENSG00000215568	ENSG00000215568		"""Pleckstrin homology (PH) domain containing"""	18325	protein-coding gene	gene with protein product							Standard	NM_001037814		Approved		uc002zlw.3	Q2WGN9	OTTHUMG00000149992	ENST00000400588.1:c.762G>T	22.37:g.17451008C>A	ENSP00000383431:p.Gln254His			Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.Q254H	ENST00000400588.1	37	c.762	CCDS42976.1	22	.	.	.	.	.	.	.	.	.	.	C	2.351	-0.348890	0.05208	.	.	ENSG00000215568	ENST00000400588	T	0.33438	1.41	1.97	1.97	0.26223	.	0.390094	0.26507	N	0.023984	T	0.18299	0.0439	N	0.19112	0.55	0.27592	N	0.949237	B	0.17852	0.024	B	0.15052	0.012	T	0.17471	-1.0368	10	0.45353	T	0.12	.	9.9586	0.41682	0.0:1.0:0.0:0.0	.	254	Q2WGN9	GAB4_HUMAN	H	254	ENSP00000383431:Q254H	ENSP00000383431:Q254H	Q	-	3	2	GAB4	15831008	1.000000	0.71417	0.773000	0.31616	0.006000	0.05464	0.841000	0.27613	1.398000	0.46701	0.411000	0.27672	CAG	GAB4	-	NULL	ENSG00000215568		0.537	GAB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAB4	HGNC	protein_coding	OTTHUMT00000315426.1	144	0.00	0	C	XM_372882		17451008	17451008	-1	no_errors	ENST00000400588	ensembl	human	known	69_37n	missense	105	16.00	20	SNP	1.000	A
GP5	2814	genome.wustl.edu	37	3	194117824	194117824	+	Silent	SNP	G	G	A			TCGA-B6-A0IB-01A-11W-A050-09	TCGA-B6-A0IB-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ff80d5cd-7aed-499f-a472-153cc40f65de	0caeac20-293e-4c97-8074-3f9d78e5ef3e	g.chr3:194117824G>A	ENST00000401815.1	-	1	1259	c.1188C>T	c.(1186-1188)caC>caT	p.H396H	GP5_ENST00000323007.3_Silent_p.H396H			P40197	GPV_HUMAN	glycoprotein V (platelet)	396					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|negative regulation of platelet activation (GO:0010544)|platelet activation (GO:0030168)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.H396H(2)		breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		CCAGCTGGTTGTGGTCGAGCT	0.692																																						dbGAP											2	Substitution - coding silent(2)	breast(2)											11.0	14.0	13.0					3																	194117824		2180	4272	6452	-	-	-	SO:0001819	synonymous_variant	0			L11238	CCDS3307.1	3q29	2008-02-01			ENSG00000178732	ENSG00000178732		"""CD molecules"""	4443	protein-coding gene	gene with protein product		173511				7690959	Standard	NM_004488		Approved	CD42d	uc003ftv.1	P40197	OTTHUMG00000150345	ENST00000401815.1:c.1188C>T	3.37:g.194117824G>A			D1MER9	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.H396	ENST00000401815.1	37	c.1188	CCDS3307.1	3																																																																																			GP5	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000178732		0.692	GP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GP5	HGNC	protein_coding	OTTHUMT00000317710.1	17	0.00	0	G	NM_004488		194117824	194117824	-1	no_errors	ENST00000323007	ensembl	human	known	69_37n	silent	14	22.22	4	SNP	0.588	A
GPRASP2	114928	genome.wustl.edu	37	X	101971946	101971946	+	Missense_Mutation	SNP	G	G	T			TCGA-B6-A0IB-01A-11W-A050-09	TCGA-B6-A0IB-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ff80d5cd-7aed-499f-a472-153cc40f65de	0caeac20-293e-4c97-8074-3f9d78e5ef3e	g.chrX:101971946G>T	ENST00000535209.1	+	4	2980	c.2149G>T	c.(2149-2151)Gcc>Tcc	p.A717S	GPRASP2_ENST00000332262.5_Missense_Mutation_p.A717S|GPRASP2_ENST00000543253.1_Missense_Mutation_p.A717S			Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting protein 2	717						cytoplasm (GO:0005737)	beta-amyloid binding (GO:0001540)	p.A717S(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						CACACTGATTGCCAACTATAT	0.428																																						dbGAP											1	Substitution - Missense(1)	breast(1)											113.0	101.0	105.0					X																	101971946		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK094646	CCDS14501.1	Xq22.1	2014-03-21			ENSG00000158301	ENSG00000158301		"""Armadillo repeat containing"""	25169	protein-coding gene	gene with protein product						15086532, 16221301	Standard	NM_138437		Approved	GASP2, FLJ37327		Q96D09	OTTHUMG00000022059	ENST00000535209.1:c.2149G>T	X.37:g.101971946G>T	ENSP00000437394:p.Ala717Ser		D3DXA0|Q8NAB4	Missense_Mutation	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold	p.A717S	ENST00000535209.1	37	c.2149	CCDS14501.1	X	.	.	.	.	.	.	.	.	.	.	G	4.805	0.149711	0.09185	.	.	ENSG00000158301	ENST00000543253;ENST00000535209;ENST00000332262	T;T;T	0.28666	1.6;1.6;1.6	4.31	2.45	0.29901	Armadillo-like helical (1);Armadillo-type fold (1);	0.331114	0.22070	N	0.065041	T	0.21674	0.0522	L	0.32530	0.975	0.26157	N	0.980052	B	0.32604	0.377	B	0.35510	0.204	T	0.13255	-1.0516	10	0.27785	T	0.31	.	8.3609	0.32359	0.0:0.0:0.5728:0.4272	.	717	Q96D09	GASP2_HUMAN	S	717	ENSP00000437872:A717S;ENSP00000437394:A717S;ENSP00000339057:A717S	ENSP00000339057:A717S	A	+	1	0	GPRASP2	101858602	1.000000	0.71417	0.773000	0.31616	0.107000	0.19398	0.899000	0.28417	0.517000	0.28361	0.513000	0.50165	GCC	GPRASP2	-	pfam_ARM-rpt_dom,superfamily_ARM-type_fold	ENSG00000158301		0.428	GPRASP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRASP2	HGNC	protein_coding	OTTHUMT00000057626.2	73	0.00	0	G	NM_138437		101971946	101971946	+1	no_errors	ENST00000332262	ensembl	human	known	69_37n	missense	56	25.33	19	SNP	0.733	T
H2AFZ	3015	genome.wustl.edu	37	4	100870877	100870877	+	Missense_Mutation	SNP	C	C	G			TCGA-B6-A0IB-01A-11W-A050-09	TCGA-B6-A0IB-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ff80d5cd-7aed-499f-a472-153cc40f65de	0caeac20-293e-4c97-8074-3f9d78e5ef3e	g.chr4:100870877C>G	ENST00000296417.5	-	2	241	c.24G>C	c.(22-24)aaG>aaC	p.K8N	RP11-15B17.1_ENST00000514624.1_RNA|DNAJB14_ENST00000442697.2_5'Flank|RP11-15B17.1_ENST00000507494.1_RNA|RP11-15B17.1_ENST00000501976.2_RNA|H2AFZ_ENST00000529158.1_5'UTR	NM_002106.3	NP_002097.1	P0C0S5	H2AZ_HUMAN	H2A histone family, member Z	8	Required for interaction with INCENP. {ECO:0000250}.				cellular response to estradiol stimulus (GO:0071392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	extracellular vesicular exosome (GO:0070062)|nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|nucleosomal DNA binding (GO:0031492)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)	p.K8N(1)		breast(1)|endometrium(3)|lung(1)	5				OV - Ovarian serous cystadenocarcinoma(123;2.32e-08)		TTCCGGAGTCCTTTCCAGCCT	0.612																																						dbGAP											1	Substitution - Missense(1)	breast(1)											66.0	74.0	71.0					4																	100870877		2203	4300	6503	-	-	-	SO:0001583	missense	0			X52317	CCDS3654.1	4q23	2011-01-27			ENSG00000164032	ENSG00000164032		"""Histones / Replication-independent"""	4741	protein-coding gene	gene with protein product		142763		H2AZ		1697587	Standard	XM_005262971		Approved	H2A.Z	uc003hvo.1	P0C0S5	OTTHUMG00000131048	ENST00000296417.5:c.24G>C	4.37:g.100870877C>G	ENSP00000296417:p.Lys8Asn		B2RD56|P17317|Q6I9U0	Missense_Mutation	SNP	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	p.K8N	ENST00000296417.5	37	c.24	CCDS3654.1	4	.	.	.	.	.	.	.	.	.	.	C	15.61	2.884418	0.51908	.	.	ENSG00000164032	ENST00000296417	D	0.85702	-2.02	3.09	2.24	0.28232	Histone-fold (2);Histone H2A (1);	0.000000	0.85682	D	0.000000	D	0.87787	0.6265	M	0.90425	3.115	0.58432	D	0.999998	P	0.47762	0.9	P	0.47346	0.544	D	0.86306	0.1683	10	0.87932	D	0	-2.7154	6.9371	0.24472	0.0:0.784:0.0:0.216	.	8	P0C0S5	H2AZ_HUMAN	N	8	ENSP00000296417:K8N	ENSP00000296417:K8N	K	-	3	2	H2AFZ	101089900	0.998000	0.40836	0.997000	0.53966	0.989000	0.77384	0.412000	0.21131	0.513000	0.28278	0.455000	0.32223	AAG	H2AFZ	-	superfamily_Histone-fold,smart_Histone_H2A	ENSG00000164032		0.612	H2AFZ-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	H2AFZ	HGNC	protein_coding	OTTHUMT00000253695.1	72	0.00	0	C	NM_002106		100870877	100870877	-1	no_errors	ENST00000296417	ensembl	human	known	69_37n	missense	25	35.90	14	SNP	1.000	G
HIBCH	26275	genome.wustl.edu	37	2	191069855	191069855	+	Missense_Mutation	SNP	A	A	C			TCGA-B6-A0IB-01A-11W-A050-09	TCGA-B6-A0IB-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ff80d5cd-7aed-499f-a472-153cc40f65de	0caeac20-293e-4c97-8074-3f9d78e5ef3e	g.chr2:191069855A>C	ENST00000359678.5	-	14	1443	c.1149T>G	c.(1147-1149)gaT>gaG	p.D383E	HIBCH_ENST00000410045.1_Missense_Mutation_p.D160E|HIBCH_ENST00000392332.3_3'UTR|HIBCH_ENST00000486981.1_5'UTR	NM_014362.3|NM_198047.2	NP_055177.2|NP_932164.1	Q6NVY1	HIBCH_HUMAN	3-hydroxyisobutyryl-CoA hydrolase	383					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|valine catabolic process (GO:0006574)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	3-hydroxyisobutyryl-CoA hydrolase activity (GO:0003860)	p.D383E(1)		NS(1)|breast(2)|endometrium(1)|large_intestine(1)|lung(5)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(117;0.000586)|Epithelial(96;0.0286)|all cancers(119;0.0814)			AAAATTTCAAATCACTGCTTC	0.378																																						dbGAP											1	Substitution - Missense(1)	breast(1)											78.0	73.0	75.0					2																	191069855		2201	4300	6501	-	-	-	SO:0001583	missense	0			U66669	CCDS2304.1, CCDS46475.1	2q32.3	2010-04-29	2010-04-29		ENSG00000198130	ENSG00000198130	3.1.2.4		4908	protein-coding gene	gene with protein product		610690	"""3-hydroxyisobutyryl-Coenzyme A hydrolase"""			8824301	Standard	NM_014362		Approved		uc002uru.3	Q6NVY1	OTTHUMG00000132673	ENST00000359678.5:c.1149T>G	2.37:g.191069855A>C	ENSP00000352706:p.Asp383Glu		D3DPI4|Q53GA8|Q53GF2|Q53RF7|Q53TC6|Q92931|Q9BS94	Missense_Mutation	SNP	pfam_Crotonase_core	p.D383E	ENST00000359678.5	37	c.1149	CCDS2304.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.02|10.02	1.235905|1.235905	0.22626|0.22626	.|.	.|.	ENSG00000198130|ENSG00000198130	ENST00000359678;ENST00000410045|ENST00000399855	T|.	0.56776|.	0.44|.	5.41|5.41	4.26|4.26	0.50523|0.50523	.|.	0.000000|.	0.34314|.	U|.	0.004068|.	T|T	0.16257|0.16257	0.0391|0.0391	N|N	0.01003|0.01003	-1.06|-1.06	0.58432|0.58432	D|D	0.999996|0.999996	B|.	0.17852|.	0.024|.	B|.	0.17433|.	0.018|.	T|T	0.05632|0.05632	-1.0873|-1.0873	10|5	0.02654|.	T|.	1|.	-6.582|-6.582	6.7801|6.7801	0.23640|0.23640	0.825:0.0:0.175:0.0|0.825:0.0:0.175:0.0	.|.	383|.	Q6NVY1|.	HIBCH_HUMAN|.	E|S	383;160|35	ENSP00000352706:D383E|.	ENSP00000352706:D383E|.	D|I	-|-	3|2	2|0	HIBCH|HIBCH	190778100|190778100	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.744000|0.744000	0.42396|0.42396	1.072000|1.072000	0.30678|0.30678	1.087000|1.087000	0.41251|0.41251	-0.250000|-0.250000	0.11733|0.11733	GAT|ATT	HIBCH	-	NULL	ENSG00000198130		0.378	HIBCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIBCH	HGNC	protein_coding	OTTHUMT00000255933.1	265	0.00	0	A			191069855	191069855	-1	no_errors	ENST00000359678	ensembl	human	known	69_37n	missense	179	26.03	63	SNP	1.000	C
HNRNPUL1	11100	genome.wustl.edu	37	19	41811615	41811615	+	Missense_Mutation	SNP	G	G	C			TCGA-B6-A0IB-01A-11W-A050-09	TCGA-B6-A0IB-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ff80d5cd-7aed-499f-a472-153cc40f65de	0caeac20-293e-4c97-8074-3f9d78e5ef3e	g.chr19:41811615G>C	ENST00000392006.3	+	14	2470	c.2297G>C	c.(2296-2298)gGt>gCt	p.G766A	HNRNPUL1_ENST00000593587.1_Missense_Mutation_p.G666A|HNRNPUL1_ENST00000352456.3_Missense_Mutation_p.G676A|HNRNPUL1_ENST00000263367.3_Missense_Mutation_p.G677A|HNRNPUL1_ENST00000602130.1_Intron|HNRNPUL1_ENST00000595018.1_Missense_Mutation_p.G666A|HNRNPUL1_ENST00000378215.4_Missense_Mutation_p.G662A	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	766	Necessary for interaction with TP53.|Pro-rich.|Tyr-rich.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.G766A(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						AACCAGGGAGGTTACAGCCAG	0.562																																						dbGAP											1	Substitution - Missense(1)	breast(1)											113.0	108.0	109.0					19																	41811615		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ007509	CCDS12576.1, CCDS12577.1	19q13.2	2013-06-12		2008-04-18	ENSG00000105323	ENSG00000105323			17011	protein-coding gene	gene with protein product	"""E1B 55kDa associated protein 5"""	605800		HNRPUL1		9733834, 12489984	Standard	XM_005258459		Approved	E1B-AP5, E1BAP5, FLJ12944	uc002oqb.4	Q9BUJ2	OTTHUMG00000182740	ENST00000392006.3:c.2297G>C	19.37:g.41811615G>C	ENSP00000375863:p.Gly766Ala		B3KMW7|O76022|Q6ZSZ0|Q7L8P4|Q8N6Z4|Q96G37|Q9HAL3|Q9UG75	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_SAP_DNA-bd,superfamily_ConA-like_lec_gl,smart_SAP_DNA-bd,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_SAP_DNA-bd	p.G766A	ENST00000392006.3	37	c.2297	CCDS12576.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.19|15.19	2.760951|2.760951	0.49468|0.49468	.|.	.|.	ENSG00000105323|ENSG00000105323	ENST00000352456;ENST00000392006;ENST00000378215;ENST00000263367|ENST00000270069	D;T;D|.	0.91577|.	-2.87;1.11;-2.87|.	4.67|4.67	2.46|2.46	0.29980|0.29980	.|.	0.296471|.	0.28219|.	N|.	0.016152|.	T|T	0.34077|0.34077	0.0885|0.0885	N|N	0.19112|0.19112	0.55|0.55	0.30953|0.30953	N|N	0.724533|0.724533	B;D;B;B;B;B|.	0.67145|.	0.002;0.996;0.003;0.012;0.007;0.004|.	B;D;B;B;B;B|.	0.77557|.	0.001;0.99;0.003;0.027;0.012;0.002|.	T|T	0.32188|0.32188	-0.9916|-0.9916	10|6	0.62326|0.15952	D|T	0.03|0.53	-0.7283|-0.7283	12.2469|12.2469	0.54576|0.54576	0.0:0.3546:0.6454:0.0|0.0:0.3546:0.6454:0.0	.|.	666;300;766;662;766;666|.	A8K3W4;Q9BUJ2-5;A8K5K0;Q9BUJ2-3;Q9BUJ2;Q9BUJ2-4|.	.;.;.;.;HNRL1_HUMAN;.|.	A|S	666;766;662;677|75	ENSP00000375863:G766A;ENSP00000367460:G662A;ENSP00000263367:G677A|.	ENSP00000263367:G677A|ENSP00000270069:R75S	G|R	+|+	2|3	0|2	HNRNPUL1|HNRNPUL1	46503455|46503455	1.000000|1.000000	0.71417|0.71417	0.960000|0.960000	0.40013|0.40013	0.990000|0.990000	0.78478|0.78478	3.638000|3.638000	0.54332|0.54332	0.562000|0.562000	0.29204|0.29204	0.485000|0.485000	0.47835|0.47835	GGT|AGG	HNRNPUL1	-	NULL	ENSG00000105323		0.562	HNRNPUL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HNRNPUL1	HGNC	protein_coding	OTTHUMT00000463406.1	257	0.39	1	G	NM_144732, NM_007040		41811615	41811615	+1	no_errors	ENST00000392006	ensembl	human	known	69_37n	missense	139	26.06	49	SNP	0.966	C
LMBRD1	55788	genome.wustl.edu	37	6	70428924	70428924	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A0IB-01A-11W-A050-09	TCGA-B6-A0IB-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ff80d5cd-7aed-499f-a472-153cc40f65de	0caeac20-293e-4c97-8074-3f9d78e5ef3e	g.chr6:70428924C>T	ENST00000370577.3	-	8	915	c.686G>A	c.(685-687)aGc>aAc	p.S229N	LMBRD1_ENST00000370570.1_Missense_Mutation_p.S156N	NM_018368.3	NP_060838.3	Q9NUN5	LMBD1_HUMAN	LMBR1 domain containing 1	229					cobalamin metabolic process (GO:0009235)|insulin receptor internalization (GO:0038016)|negative regulation of glucose import (GO:0046325)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein kinase B signaling (GO:0051898)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	clathrin-coated endocytic vesicle (GO:0045334)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cobalamin binding (GO:0031419)	p.S229N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	31						ATAAGCAGCGCTTCTAGTGCC	0.318																																						dbGAP											1	Substitution - Missense(1)	breast(1)											142.0	120.0	128.0					6																	70428924		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF113224	CCDS4969.1	6q13	2011-05-12	2005-07-25	2005-07-25	ENSG00000168216	ENSG00000168216			23038	protein-coding gene	gene with protein product		612625	"""chromosome 6 open reading frame 209"""	C6orf209		19136951	Standard	NM_018368		Approved	FLJ11240, bA810I22.1, cblF	uc003pfa.3	Q9NUN5	OTTHUMG00000014985	ENST00000370577.3:c.686G>A	6.37:g.70428924C>T	ENSP00000359609:p.Ser229Asn		A8K204|E1P531|Q5VUN6|Q86Y70|Q96FW4|Q9BY56|Q9NZD6	Missense_Mutation	SNP	pfam_LMBR1-like_membr_prot	p.S229N	ENST00000370577.3	37	c.686	CCDS4969.1	6	.	.	.	.	.	.	.	.	.	.	C	10.94	1.491660	0.26774	.	.	ENSG00000168216	ENST00000370577;ENST00000370570	T;T	0.29655	1.56;1.56	5.33	2.59	0.31030	LMBR1-like membrane protein (1);	0.119987	0.85682	N	0.000000	T	0.07999	0.0200	L	0.33792	1.035	0.48452	D	0.99965	B	0.02656	0.0	B	0.10450	0.005	T	0.12268	-1.0554	10	0.15952	T	0.53	-5.0026	8.0233	0.30423	0.0:0.6222:0.0:0.3778	.	229	Q9NUN5	LMBD1_HUMAN	N	229;156	ENSP00000359609:S229N;ENSP00000359602:S156N	ENSP00000359602:S156N	S	-	2	0	LMBRD1	70485645	0.954000	0.32549	0.974000	0.42286	0.659000	0.38960	0.422000	0.21296	0.617000	0.30160	0.563000	0.77884	AGC	LMBRD1	-	pfam_LMBR1-like_membr_prot	ENSG00000168216		0.318	LMBRD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LMBRD1	HGNC	protein_coding	OTTHUMT00000041124.1	115	0.00	0	C	NM_018368		70428924	70428924	-1	no_errors	ENST00000370577	ensembl	human	known	69_37n	missense	141	14.02	23	SNP	0.996	T
LRP1	4035	genome.wustl.edu	37	12	57600299	57600299	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B6-A0IB-01A-11W-A050-09	TCGA-B6-A0IB-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ff80d5cd-7aed-499f-a472-153cc40f65de	0caeac20-293e-4c97-8074-3f9d78e5ef3e	g.chr12:57600299delC	ENST00000243077.3	+	76	12100	c.11634delC	c.(11632-11634)atcfs	p.I3878fs		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3878					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ACAATGAGATCCGCAGCCTGT	0.597																																						dbGAP											0													133.0	103.0	113.0					12																	57600299		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.11634delC	12.37:g.57600299delC	ENSP00000243077:p.Ile3878fs		Q2PP12|Q86SW0|Q8IVG8	Frame_Shift_Del	DEL	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd,smart_EGF-like,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.R3879fs	ENST00000243077.3	37	c.11634	CCDS8932.1	12																																																																																			LRP1	-	superfamily_Growth_fac_rcpt	ENSG00000123384		0.597	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1	HGNC	protein_coding	OTTHUMT00000412772.2	106	0.00	0	C	NM_002332		57600299	57600299	+1	no_errors	ENST00000243077	ensembl	human	known	69_37n	frame_shift_del	49	77.06	168	DEL	1.000	-
LRP1	4035	genome.wustl.edu	37	12	57600303	57600303	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B6-A0IB-01A-11W-A050-09	TCGA-B6-A0IB-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ff80d5cd-7aed-499f-a472-153cc40f65de	0caeac20-293e-4c97-8074-3f9d78e5ef3e	g.chr12:57600303delA	ENST00000243077.3	+	76	12104	c.11638delA	c.(11638-11640)agcfs	p.S3880fs		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3880					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGAGATCCGCAGCCTGTTCCC	0.602																																						dbGAP											0													141.0	107.0	118.0					12																	57600303		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.11638delA	12.37:g.57600303delA	ENSP00000243077:p.Ser3880fs		Q2PP12|Q86SW0|Q8IVG8	Frame_Shift_Del	DEL	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd,smart_EGF-like,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.S3880fs	ENST00000243077.3	37	c.11638	CCDS8932.1	12																																																																																			LRP1	-	superfamily_Growth_fac_rcpt	ENSG00000123384		0.602	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1	HGNC	protein_coding	OTTHUMT00000412772.2	114	0.00	0	A	NM_002332		57600303	57600303	+1	no_errors	ENST00000243077	ensembl	human	known	69_37n	frame_shift_del	53	74.34	168	DEL	1.000	-
LRP1	4035	genome.wustl.edu	37	12	57600307	57600307	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B6-A0IB-01A-11W-A050-09	TCGA-B6-A0IB-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ff80d5cd-7aed-499f-a472-153cc40f65de	0caeac20-293e-4c97-8074-3f9d78e5ef3e	g.chr12:57600307delT	ENST00000243077.3	+	76	12108	c.11642delT	c.(11641-11643)ctgfs	p.L3881fs		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3881					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ATCCGCAGCCTGTTCCCCGGC	0.597																																						dbGAP											0													144.0	108.0	120.0					12																	57600307		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.11642delT	12.37:g.57600307delT	ENSP00000243077:p.Leu3881fs		Q2PP12|Q86SW0|Q8IVG8	Frame_Shift_Del	DEL	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd,smart_EGF-like,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.L3881fs	ENST00000243077.3	37	c.11642	CCDS8932.1	12																																																																																			LRP1	-	superfamily_Growth_fac_rcpt	ENSG00000123384		0.597	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1	HGNC	protein_coding	OTTHUMT00000412772.2	117	0.00	0	T	NM_002332		57600307	57600307	+1	no_errors	ENST00000243077	ensembl	human	known	69_37n	frame_shift_del	54	71.49	173	DEL	1.000	-
LRP2BP	55805	genome.wustl.edu	37	4	186296782	186296782	+	Silent	SNP	C	C	T			TCGA-B6-A0IB-01A-11W-A050-09	TCGA-B6-A0IB-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ff80d5cd-7aed-499f-a472-153cc40f65de	0caeac20-293e-4c97-8074-3f9d78e5ef3e	g.chr4:186296782C>T	ENST00000328559.7	-	3	1126	c.315G>A	c.(313-315)ggG>ggA	p.G105G	LRP2BP_ENST00000510776.1_Silent_p.G79G|RP11-714G18.1_ENST00000514884.1_RNA|LRP2BP_ENST00000505916.1_Silent_p.G105G|LRP2BP_ENST00000362004.3_Silent_p.G107G	NM_018409.3	NP_060879.2	Q9P2M1	LR2BP_HUMAN	LRP2 binding protein	105						cytoplasm (GO:0005737)		p.G105G(1)		breast(1)|endometrium(2)|large_intestine(6)|lung(3)|prostate(1)|skin(2)	15		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;2.14e-25)|Epithelial(43;1.55e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-11)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000766)|Colorectal(24;0.00116)|LUSC - Lung squamous cell carcinoma(40;0.00904)|COAD - Colon adenocarcinoma(29;0.0101)|READ - Rectum adenocarcinoma(43;0.161)		CTAGAGTGGTCCCCAGCCCAT	0.373																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											175.0	139.0	151.0					4																	186296782		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB037746	CCDS3840.1	4q35.1	2011-05-03			ENSG00000109771	ENSG00000109771			25434	protein-coding gene	gene with protein product						10718198, 12508107	Standard	NM_018409		Approved	DKFZp761O0113	uc003ixj.2	Q9P2M1	OTTHUMG00000160460	ENST00000328559.7:c.315G>A	4.37:g.186296782C>T			A6NJR7|A7E219|B3KX83|Q9NSN6	Silent	SNP	pfam_Sel1-like,pfam_TPR_2,smart_Sel1-like,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.G107	ENST00000328559.7	37	c.321	CCDS3840.1	4																																																																																			LRP2BP	-	pfam_Sel1-like,smart_Sel1-like	ENSG00000109771		0.373	LRP2BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LRP2BP	HGNC	protein_coding	OTTHUMT00000360679.2	149	0.00	0	C	NM_018409		186296782	186296782	-1	no_errors	ENST00000362004	ensembl	human	known	69_37n	silent	56	41.05	39	SNP	0.997	T
MAP2K4	6416	genome.wustl.edu	37	17	11958309	11958310	+	Splice_Site	INS	-	-	T			TCGA-B6-A0IB-01A-11W-A050-09	TCGA-B6-A0IB-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ff80d5cd-7aed-499f-a472-153cc40f65de	0caeac20-293e-4c97-8074-3f9d78e5ef3e	g.chr17:11958309_11958310insT	ENST00000353533.5	+	2	281		c.e2+1		MAP2K4_ENST00000415385.3_Splice_Site	NM_003010.2	NP_003001.1	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4						apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron apoptotic process (GO:0043525)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|nucleus (GO:0005634)|perikaryon (GO:0043204)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.0?(10)|p.?(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		ACCCACACATGTGAGTATTCTT	0.347			"""D, Mis, N"""		"""pancreatic, breast, colorectal"""																																	dbGAP		Rec	yes		17	17p11.2	6416	mitogen-activated protein kinase kinase 4		E	11	Whole gene deletion(10)|Unknown(1)	breast(5)|ovary(4)|biliary_tract(1)|pancreas(1)																																								-	-	-	SO:0001630	splice_region_variant	0			L36870	CCDS11162.1, CCDS62095.1	17p12	2012-03-23			ENSG00000065559	ENSG00000065559	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6844	protein-coding gene	gene with protein product		601335		SERK1		7716521	Standard	NM_003010		Approved	MEK4, JNKK1, PRKMK4, MKK4	uc002gnj.3	P45985		ENST00000353533.5:c.218+1->T	17.37:g.11958310_11958310dupT			B2R7N7|B3KYB2|D3DTS5|Q5U0B8|Q6FHX4|Q6P9H2|Q6PIE6	Splice_Site	INS	-	e3+1	ENST00000353533.5	37	c.251+1_251+1	CCDS11162.1	17																																																																																			MAP2K4	-	-	ENSG00000065559		0.347	MAP2K4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP2K4	HGNC	protein_coding	OTTHUMT00000441226.1	160	0.00	0	-		Intron	11958309	11958310	+1	no_errors	ENST00000415385	ensembl	human	known	69_37n	splice_site_ins	43	69.50	98	INS	1.000:1.000	T
MUC4	4585	genome.wustl.edu	37	3	195512343	195512343	+	Silent	SNP	G	G	A	rs113457754		TCGA-B6-A0IB-01A-11W-A050-09	TCGA-B6-A0IB-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ff80d5cd-7aed-499f-a472-153cc40f65de	0caeac20-293e-4c97-8074-3f9d78e5ef3e	g.chr3:195512343G>A	ENST00000463781.3	-	2	6567	c.6108C>T	c.(6106-6108)acC>acT	p.T2036T	MUC4_ENST00000475231.1_Silent_p.T2036T|MUC4_ENST00000346145.4_Intron|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)	p.T2036T(2)		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)		AGGAAGTATCGGTGACAGGAA	0.567																																						dbGAP											2	Substitution - coding silent(2)	stomach(2)											29.0	25.0	26.0					3																	195512343		688	1575	2263	-	-	-	SO:0001819	synonymous_variant	0			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.6108C>T	3.37:g.195512343G>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_EGF-like,pfscan_AMOP,pfscan_EG-like_dom	p.T2036	ENST00000463781.3	37	c.6108	CCDS54700.1	3																																																																																			MUC4	-	NULL	ENSG00000145113		0.567	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	28	0.00	0	G	NM_018406		195512343	195512343	-1	no_errors	ENST00000463781	ensembl	human	known	69_37n	silent	21	19.23	5	SNP	0.000	A
MXD4	10608	genome.wustl.edu	37	4	2252287	2252287	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A0IB-01A-11W-A050-09	TCGA-B6-A0IB-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ff80d5cd-7aed-499f-a472-153cc40f65de	0caeac20-293e-4c97-8074-3f9d78e5ef3e	g.chr4:2252287C>T	ENST00000337190.2	-	6	927	c.614G>A	c.(613-615)cGc>cAc	p.R205H	MIR4800_ENST00000537353.2_RNA	NM_006454.2	NP_006445.1	Q14582	MAD4_HUMAN	MAX dimerization protein 4	205					negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription corepressor activity (GO:0003714)	p.R205H(1)		breast(1)|endometrium(1)|kidney(1)|lung(3)	6						GAGGGCGGGGCGGCCCAGCCG	0.706																																						dbGAP											1	Substitution - Missense(1)	breast(1)											11.0	12.0	12.0					4																	2252287		2175	4217	6392	-	-	-	SO:0001583	missense	0				CCDS3361.1	4p16.3	2008-08-19			ENSG00000123933	ENSG00000123933		"""MAX dimerization proteins"", ""Basic helix-loop-helix proteins"""	13906	protein-coding gene	gene with protein product						8521822	Standard	NM_006454		Approved	MAD4, MSTP149, MST149, bHLHc12	uc003geu.1	Q14582	OTTHUMG00000090243	ENST00000337190.2:c.614G>A	4.37:g.2252287C>T	ENSP00000337889:p.Arg205His		A2A335|Q5TZX4	Missense_Mutation	SNP	pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd	p.R205H	ENST00000337190.2	37	c.614	CCDS3361.1	4	.	.	.	.	.	.	.	.	.	.	C	14.83	2.651603	0.47362	.	.	ENSG00000123933	ENST00000337190	T	0.44482	0.92	3.94	2.19	0.27852	.	0.468631	0.22443	N	0.060000	T	0.34135	0.0887	L	0.50333	1.59	0.23227	N	0.998087	D	0.54047	0.964	B	0.43623	0.425	T	0.18366	-1.0339	10	0.48119	T	0.1	-5.4907	5.9418	0.19198	0.0:0.6676:0.0:0.3324	.	205	Q14582	MAD4_HUMAN	H	205	ENSP00000337889:R205H	ENSP00000337889:R205H	R	-	2	0	MXD4	2222085	0.994000	0.37717	0.878000	0.34440	0.431000	0.31685	0.469000	0.22067	0.436000	0.26393	-0.258000	0.10820	CGC	MXD4	-	NULL	ENSG00000123933		0.706	MXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MXD4	HGNC	protein_coding	OTTHUMT00000206519.1	20	0.00	0	C	NM_006454		2252287	2252287	-1	no_errors	ENST00000337190	ensembl	human	known	69_37n	missense	5	50.00	6	SNP	0.908	T
NF1	4763	genome.wustl.edu	37	17	29657384	29657384	+	Missense_Mutation	SNP	G	G	C			TCGA-B6-A0IB-01A-11W-A050-09	TCGA-B6-A0IB-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ff80d5cd-7aed-499f-a472-153cc40f65de	0caeac20-293e-4c97-8074-3f9d78e5ef3e	g.chr17:29657384G>C	ENST00000358273.4	+	39	6063	c.5680G>C	c.(5680-5682)Gag>Cag	p.E1894Q	NF1_ENST00000356175.3_Missense_Mutation_p.E1873Q|NF1_ENST00000581113.2_3'UTR	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1894					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)|p.E1894Q(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CCAGTTACTAGAGACATCAGG	0.393			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												dbGAP	yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	13	Whole gene deletion(8)|Unknown(3)|Substitution - Missense(2)	soft_tissue(7)|autonomic_ganglia(2)|breast(2)|lung(1)|central_nervous_system(1)											115.0	106.0	109.0					17																	29657384		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.5680G>C	17.37:g.29657384G>C	ENSP00000351015:p.Glu1894Gln		O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP	p.E1894Q	ENST00000358273.4	37	c.5680	CCDS42292.1	17	.	.	.	.	.	.	.	.	.	.	G	28.6	4.935797	0.92458	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	D;D;D	0.96992	-4.2;-4.2;-4.2	5.6	5.6	0.85130	Armadillo-type fold (2);	0.000000	0.85682	D	0.000000	D	0.98226	0.9413	M	0.84683	2.71	0.80722	D	1	D;D;P	0.64830	0.994;0.989;0.913	P;D;P	0.72982	0.849;0.979;0.867	D	0.98350	1.0543	10	0.49607	T	0.09	.	18.6083	0.91275	0.0:0.0:1.0:0.0	.	923;1873;1894	Q59FX3;P21359-2;P21359	.;.;NF1_HUMAN	Q	1894;1873;1539	ENSP00000351015:E1894Q;ENSP00000348498:E1873Q;ENSP00000389907:E1539Q	ENSP00000348498:E1873Q	E	+	1	0	NF1	26681510	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.368000	0.97152	2.627000	0.88993	0.650000	0.86243	GAG	NF1	-	superfamily_ARM-type_fold	ENSG00000196712		0.393	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NF1	HGNC	protein_coding	OTTHUMT00000256351.2	173	0.00	0	G	NM_000267		29657384	29657384	+1	no_errors	ENST00000358273	ensembl	human	known	69_37n	missense	128	20.00	32	SNP	1.000	C
NFASC	23114	genome.wustl.edu	37	1	204938069	204938069	+	Missense_Mutation	SNP	A	A	G			TCGA-B6-A0IB-01A-11W-A050-09	TCGA-B6-A0IB-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ff80d5cd-7aed-499f-a472-153cc40f65de	0caeac20-293e-4c97-8074-3f9d78e5ef3e	g.chr1:204938069A>G	ENST00000401399.1	+	9	1161	c.962A>G	c.(961-963)aAg>aGg	p.K321R	NFASC_ENST00000367170.4_Missense_Mutation_p.K321R|NFASC_ENST00000339876.6_Missense_Mutation_p.K321R|NFASC_ENST00000367169.4_Missense_Mutation_p.K321R|NFASC_ENST00000513543.1_Missense_Mutation_p.K332R|NFASC_ENST00000367171.4_Missense_Mutation_p.K321R|NFASC_ENST00000338586.6_Missense_Mutation_p.K321R|NFASC_ENST00000338515.6_Missense_Mutation_p.K321R|NFASC_ENST00000403080.1_Missense_Mutation_p.K321R|NFASC_ENST00000404076.1_Missense_Mutation_p.K315R|NFASC_ENST00000367172.4_Missense_Mutation_p.K321R|NFASC_ENST00000360049.4_Missense_Mutation_p.K332R|NFASC_ENST00000539706.1_Missense_Mutation_p.K332R|NFASC_ENST00000404907.1_Missense_Mutation_p.K332R			O94856	NFASC_HUMAN	neurofascin	321	Ig-like C2-type 3.				axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)		p.K321R(2)|p.K332R(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GCCTCCAACAAGATGGGCAGC	0.483																																						dbGAP											3	Substitution - Missense(3)	breast(3)											70.0	73.0	72.0					1																	204938069		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29866	protein-coding gene	gene with protein product		609145	"""neurofascin homolog (chicken)"""			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.962A>G	1.37:g.204938069A>G	ENSP00000385637:p.Lys321Arg		B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.K321R	ENST00000401399.1	37	c.962	CCDS53460.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.55|12.55	1.970572|1.970572	0.34754|0.34754	.|.	.|.	ENSG00000163531|ENSG00000163531	ENST00000367172;ENST00000367171;ENST00000367170;ENST00000338515;ENST00000339876;ENST00000338586;ENST00000295776;ENST00000539706;ENST00000360049;ENST00000367169;ENST00000403080;ENST00000404076;ENST00000401399;ENST00000404907;ENST00000513543;ENST00000430393|ENST00000367173	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.67698|.	-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28|.	5.8|5.8	4.67|4.67	0.58626|0.58626	.|.	0.106557|.	0.40908|.	D|.	0.000984|.	T|T	0.39963|0.39963	0.1098|0.1098	N|N	0.13371|0.13371	0.34|0.34	0.35085|0.35085	D|D	0.763765|0.763765	B;B;B;B;B;B;B|.	0.09022|.	0.0;0.0;0.0;0.0;0.002;0.0;0.001|.	B;B;B;B;B;B;B|.	0.09377|.	0.0;0.001;0.001;0.0;0.0;0.001;0.004|.	T|T	0.50092|0.50092	-0.8868|-0.8868	10|5	0.21014|.	T|.	0.42|.	.|.	11.7337|11.7337	0.51752|0.51752	0.9295:0.0:0.0705:0.0|0.9295:0.0:0.0705:0.0	.|.	332;332;417;321;321;332;321|.	O94856-11;O94856-8;B4DRH7;F8W791;O94856-9;O94856-3;O94856-2|.	.;.;.;.;.;.;.|.	R|G	321;321;321;321;321;321;332;332;332;321;321;315;321;332;332;308|291	ENSP00000356140:K321R;ENSP00000356139:K321R;ENSP00000356138:K321R;ENSP00000342128:K321R;ENSP00000344786:K321R;ENSP00000343509:K321R;ENSP00000438614:K332R;ENSP00000353154:K332R;ENSP00000356137:K321R;ENSP00000384875:K321R;ENSP00000385676:K315R;ENSP00000385637:K321R;ENSP00000384061:K332R;ENSP00000425908:K332R;ENSP00000415031:K308R|.	ENSP00000295776:K332R|.	K|R	+|+	2|1	0|2	NFASC|NFASC	203204692|203204692	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	3.753000|3.753000	0.55180|0.55180	2.213000|2.213000	0.71641|0.71641	0.528000|0.528000	0.53228|0.53228	AAG|AGA	NFASC	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000163531		0.483	NFASC-001	KNOWN	basic|CCDS	protein_coding	NFASC	HGNC	protein_coding	OTTHUMT00000131237.1	283	0.00	0	A	NM_001005388		204938069	204938069	+1	no_errors	ENST00000367172	ensembl	human	known	69_37n	missense	253	10.28	29	SNP	1.000	G
NLRP1	22861	genome.wustl.edu	37	17	5418124	5418124	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B6-A0IB-01A-11W-A050-09	TCGA-B6-A0IB-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ff80d5cd-7aed-499f-a472-153cc40f65de	0caeac20-293e-4c97-8074-3f9d78e5ef3e	g.chr17:5418124C>A	ENST00000572272.1	-	17	4371	c.4372G>T	c.(4372-4374)Gaa>Taa	p.E1458*	NLRP1_ENST00000345221.3_Nonsense_Mutation_p.E1414*|NLRP1_ENST00000269280.4_Nonsense_Mutation_p.E1414*|NLRP1_ENST00000577119.1_Nonsense_Mutation_p.E1384*|RNU7-31P_ENST00000517262.1_RNA|NLRP1_ENST00000262467.5_Intron|NLRP1_ENST00000354411.3_Nonsense_Mutation_p.E1428*			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	1458	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)	p.E1458*(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				TCCCAGAGTTCCATAATGAGG	0.552																																						dbGAP											1	Substitution - Nonsense(1)	breast(1)											89.0	92.0	91.0					17																	5418124		1983	4159	6142	-	-	-	SO:0001587	stop_gained	0			AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"""Nucleotide-binding domain and leucine rich repeat containing"""	14374	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"""	606636	"""NACHT, leucine rich repeat and PYD (pyrin domain) containing 1"", ""systemic lupus erythematosus, vitiligo-related 1"""	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.4372G>T	17.37:g.5418124C>A	ENSP00000460475:p.Glu1458*		E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Nonsense_Mutation	SNP	pfam_CARD,pfam_DAPIN,pfam_Leu-rich_rpt,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD,pfscan_DAPIN,prints_Disease_R	p.E1458*	ENST00000572272.1	37	c.4372	CCDS42246.1	17	.	.	.	.	.	.	.	.	.	.	C	39	7.726493	0.98456	.	.	ENSG00000091592	ENST00000269280;ENST00000354411;ENST00000345221	.	.	.	5.07	4.08	0.47627	.	0.430475	0.17225	N	0.182193	.	.	.	.	.	.	0.33065	D	0.534661	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	11.0589	0.47936	0.1859:0.8141:0.0:0.0	.	.	.	.	X	1458;1428;1414	.	ENSP00000269280:E1458X	E	-	1	0	NLRP1	5358848	0.202000	0.23423	0.010000	0.14722	0.032000	0.12392	1.634000	0.37123	1.239000	0.43787	0.650000	0.86243	GAA	NLRP1	-	pfam_CARD,superfamily_DEATH-like,pfscan_CARD	ENSG00000091592		0.552	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NLRP1	HGNC	protein_coding	OTTHUMT00000439517.1	290	0.00	0	C	NM_033004		5418124	5418124	-1	no_errors	ENST00000572272	ensembl	human	known	69_37n	nonsense	109	24.14	35	SNP	0.025	A
NRXN2	9379	genome.wustl.edu	37	11	64375285	64375286	+	Frame_Shift_Ins	INS	-	-	G	rs369377520		TCGA-B6-A0IB-01A-11W-A050-09	TCGA-B6-A0IB-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ff80d5cd-7aed-499f-a472-153cc40f65de	0caeac20-293e-4c97-8074-3f9d78e5ef3e	g.chr11:64375285_64375286insG	ENST00000377551.1	-	22	4732_4733	c.4521_4522insC	c.(4519-4524)cccacgfs	p.T1508fs	NRXN2_ENST00000409571.1_Frame_Shift_Ins_p.T1501fs|NRXN2_ENST00000265459.6_Frame_Shift_Ins_p.T1508fs|NRXN2_ENST00000377559.3_Frame_Shift_Ins_p.T1438fs|NRXN2_ENST00000301894.2_Frame_Shift_Ins_p.T462fs			Q9P2S2	NRX2A_HUMAN	neurexin 2	1508					adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)	p.T1508fs*82(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						TCGTCGTCCGTGGGGGGGAGGC	0.693																																						dbGAP											1	Insertion - Frameshift(1)	ovary(1)																																								-	-	-	SO:0001589	frameshift_variant	0				CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"""neurexin II"""	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.4522dupC	11.37:g.64375292_64375292dupG	ENSP00000366774:p.Thr1508fs		A7E2C1|Q9Y2D6	Frame_Shift_Ins	INS	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_EGF-like,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G	p.T1507fs	ENST00000377551.1	37	c.4522_4521	CCDS8077.1	11																																																																																			NRXN2	-	NULL	ENSG00000110076		0.693	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NRXN2	HGNC	protein_coding	OTTHUMT00000104967.3	62	0.00	0	-	NM_015080		64375285	64375286	-1	no_errors	ENST00000265459	ensembl	human	known	69_37n	frame_shift_ins	33	10.81	4	INS	1.000:0.926	G
OR51Q1	390061	genome.wustl.edu	37	11	5443511	5443511	+	Silent	SNP	C	C	A			TCGA-B6-A0IB-01A-11W-A050-09	TCGA-B6-A0IB-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ff80d5cd-7aed-499f-a472-153cc40f65de	0caeac20-293e-4c97-8074-3f9d78e5ef3e	g.chr11:5443511C>A	ENST00000300778.4	+	1	171	c.81C>A	c.(79-81)atC>atA	p.I27I	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	27						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCTCCCACATCTGGATCTCCA	0.522																																						dbGAP											0													303.0	233.0	257.0					11																	5443511		2201	4297	6498	-	-	-	SO:0001819	synonymous_variant	0			AB065531	CCDS31381.1	11p15.4	2013-10-10	2013-10-10		ENSG00000167360	ENSG00000167360		"""GPCR / Class A : Olfactory receptors"""	14851	protein-coding gene	gene with protein product			"""olfactory receptor, family 51, subfamily Q, member 1"""				Standard	NM_001004757		Approved		uc010qzd.2	Q8NH59	OTTHUMG00000066896	ENST00000300778.4:c.81C>A	11.37:g.5443511C>A			B2RNN1	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.I27	ENST00000300778.4	37	c.81	CCDS31381.1	11																																																																																			OR51Q1	-	NULL	ENSG00000167360		0.522	OR51Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51Q1	HGNC	protein_coding	OTTHUMT00000143373.1	252	0.00	0	C	NM_001004757		5443511	5443511	+1	no_errors	ENST00000300778	ensembl	human	known	69_37n	silent	318	14.52	54	SNP	0.331	A
PCYOX1	51449	genome.wustl.edu	37	2	70503936	70503936	+	Silent	SNP	C	C	T			TCGA-B6-A0IB-01A-11W-A050-09	TCGA-B6-A0IB-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ff80d5cd-7aed-499f-a472-153cc40f65de	0caeac20-293e-4c97-8074-3f9d78e5ef3e	g.chr2:70503936C>T	ENST00000433351.2	+	6	958	c.930C>T	c.(928-930)atC>atT	p.I310I	PCYOX1_ENST00000505044.2_Silent_p.I233I|PCYOX1_ENST00000264441.5_Intron|PCYOX1_ENST00000545138.1_Silent_p.I232I	NM_016297.3	NP_057381.3	Q9UHG3	PCYOX_HUMAN	prenylcysteine oxidase 1	310					prenylated protein catabolic process (GO:0030327)|prenylcysteine catabolic process (GO:0030328)|prenylcysteine metabolic process (GO:0030329)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	chloride-transporting ATPase activity (GO:0008555)|prenylcysteine oxidase activity (GO:0001735)	p.I310I(1)		breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)	15						TCTATGACATCGTCTTGGTGG	0.368																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											53.0	56.0	55.0					2																	70503936		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB020715	CCDS1902.1	2p13.3	2008-02-05			ENSG00000116005	ENSG00000116005	1.8.3.5		20588	protein-coding gene	gene with protein product		610995				10585463, 12186880	Standard	NM_016297		Approved	KIAA0908, PCL1	uc002sgn.4	Q9UHG3	OTTHUMG00000129671	ENST00000433351.2:c.930C>T	2.37:g.70503936C>T			B2RB14|B7Z9P8|O94982|Q8N4N5|Q96QM8	Silent	SNP	pfam_Prenylcys_lyase,pfam_FAD-dep_OxRdtase,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Amino_oxidase,pirsf_Prenylcysteine_Oxase	p.I310	ENST00000433351.2	37	c.930	CCDS1902.1	2																																																																																			PCYOX1	-	pfam_Prenylcys_lyase,pirsf_Prenylcysteine_Oxase	ENSG00000116005		0.368	PCYOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCYOX1	HGNC	protein_coding	OTTHUMT00000251872.3	43	0.00	0	C	NM_016297		70503936	70503936	+1	no_errors	ENST00000433351	ensembl	human	known	69_37n	silent	40	11.11	5	SNP	0.516	T
PER3	8863	genome.wustl.edu	37	1	7844972	7844972	+	Frame_Shift_Del	DEL	G	G	-	rs547192999		TCGA-B6-A0IB-01A-11W-A050-09	TCGA-B6-A0IB-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ff80d5cd-7aed-499f-a472-153cc40f65de	0caeac20-293e-4c97-8074-3f9d78e5ef3e	g.chr1:7844972delG	ENST00000361923.2	+	1	210	c.35delG	c.(34-36)cggfs	p.R12fs	PER3_ENST00000377541.1_Frame_Shift_Del_p.R12fs|PER3_ENST00000377532.3_Frame_Shift_Del_p.R12fs	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	12					circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		CCCGGGAGACGGGGGGCTAAG	0.692																																						dbGAP											0													12.0	17.0	16.0					1																	7844972		2192	4290	6482	-	-	-	SO:0001589	frameshift_variant	0			BC026102	CCDS89.1, CCDS72695.1	1p36.23	2012-12-13	2012-12-13		ENSG00000049246	ENSG00000049246			8847	protein-coding gene	gene with protein product		603427	"""period (Drosophila) homolog 3"", ""period homolog 3 (Drosophila)"""			9427249	Standard	XM_005263520		Approved		uc001aoo.3	P56645	OTTHUMG00000001216	ENST00000361923.2:c.35delG	1.37:g.7844972delG	ENSP00000355031:p.Arg12fs		Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Frame_Shift_Del	DEL	pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,smart_PAS,pfscan_PAS	p.A14fs	ENST00000361923.2	37	c.35	CCDS89.1	1																																																																																			PER3	-	NULL	ENSG00000049246		0.692	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PER3	HGNC	protein_coding	OTTHUMT00000003607.1	23	0.00	0	G	NM_016831		7844972	7844972	+1	no_errors	ENST00000361923	ensembl	human	known	69_37n	frame_shift_del	2	60.00	6	DEL	0.000	-
PHLDB3	653583	genome.wustl.edu	37	19	44006351	44006351	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A0IB-01A-11W-A050-09	TCGA-B6-A0IB-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ff80d5cd-7aed-499f-a472-153cc40f65de	0caeac20-293e-4c97-8074-3f9d78e5ef3e	g.chr19:44006351G>A	ENST00000292140.5	-	3	658	c.298C>T	c.(298-300)Cgc>Tgc	p.R100C	PHLDB3_ENST00000599242.1_Missense_Mutation_p.R100C	NM_198850.3	NP_942147.3	Q6NSJ2	PHLB3_HUMAN	pleckstrin homology-like domain, family B, member 3	100							enzyme binding (GO:0019899)	p.R100C(2)		breast(1)|central_nervous_system(1)|lung(5)	7		Prostate(69;0.0153)				CCTTGCAGGCGCCGCGCCGCC	0.662																																						dbGAP											2	Substitution - Missense(2)	breast(2)											25.0	22.0	23.0					19																	44006351		2196	4294	6490	-	-	-	SO:0001583	missense	0				CCDS12621.2	19q13.31	2013-01-10			ENSG00000176531	ENSG00000176531		"""Pleckstrin homology (PH) domain containing"""	30499	protein-coding gene	gene with protein product							Standard	NM_198850		Approved	FLJ40193	uc002own.4	Q6NSJ2	OTTHUMG00000150693	ENST00000292140.5:c.298C>T	19.37:g.44006351G>A	ENSP00000292140:p.Arg100Cys		Q8N7Z4	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.R100C	ENST00000292140.5	37	c.298	CCDS12621.2	19	.	.	.	.	.	.	.	.	.	.	G	18.93	3.728519	0.69074	.	.	ENSG00000176531	ENST00000292140	T	0.53206	0.63	4.02	2.95	0.34219	.	0.360666	0.21826	N	0.068554	T	0.53433	0.1796	L	0.32530	0.975	0.40591	D	0.981487	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.991	T	0.52071	-0.8624	10	0.49607	T	0.09	.	9.2116	0.37322	0.0:0.0:0.7824:0.2176	.	100;100	Q6NSJ2-2;Q6NSJ2	.;PHLB3_HUMAN	C	100	ENSP00000292140:R100C	ENSP00000292140:R100C	R	-	1	0	PHLDB3	48698191	0.772000	0.28567	0.306000	0.25113	0.033000	0.12548	1.016000	0.29976	0.807000	0.34208	0.306000	0.20318	CGC	PHLDB3	-	NULL	ENSG00000176531		0.662	PHLDB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHLDB3	HGNC	protein_coding	OTTHUMT00000319643.2	92	0.00	0	G			44006351	44006351	-1	no_errors	ENST00000292140	ensembl	human	known	69_37n	missense	75	18.37	18	SNP	0.993	A
PLOD3	8985	genome.wustl.edu	37	7	100853849	100853849	+	Silent	SNP	G	G	A			TCGA-B6-A0IB-01A-11W-A050-09	TCGA-B6-A0IB-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ff80d5cd-7aed-499f-a472-153cc40f65de	0caeac20-293e-4c97-8074-3f9d78e5ef3e	g.chr7:100853849G>A	ENST00000223127.3	-	13	1862	c.1464C>T	c.(1462-1464)gaC>gaT	p.D488D		NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	488					basement membrane assembly (GO:0070831)|cellular protein modification process (GO:0006464)|cellular response to hormone stimulus (GO:0032870)|collagen fibril organization (GO:0030199)|endothelial cell morphogenesis (GO:0001886)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|lung morphogenesis (GO:0060425)|neural tube development (GO:0021915)|protein localization (GO:0008104)|vasodilation (GO:0042311)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen galactosyltransferase activity (GO:0050211)|procollagen glucosyltransferase activity (GO:0033823)|procollagen-lysine 5-dioxygenase activity (GO:0008475)	p.D488D(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	CCATGTCCGGGTCTGTGTCAC	0.607																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											108.0	86.0	93.0					7																	100853849		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF046889	CCDS5715.1	7q22.1	2011-08-24			ENSG00000106397	ENSG00000106397	1.14.11.4		9083	protein-coding gene	gene with protein product	"""lysyl hydroxlase 3"""	603066				9724729, 9582318	Standard	NM_001084		Approved	LH3	uc003uyd.3	O60568	OTTHUMG00000157111	ENST00000223127.3:c.1464C>T	7.37:g.100853849G>A			B2R6W6|Q540C3	Missense_Mutation	SNP	pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph	p.T63I	ENST00000223127.3	37	c.188	CCDS5715.1	7	.	.	.	.	.	.	.	.	.	.	G	5.812	0.334105	0.11013	.	.	ENSG00000106397	ENST00000454310	.	.	.	4.52	3.39	0.38822	.	.	.	.	.	T	0.60625	0.2283	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58538	-0.7619	4	.	.	.	-15.6303	10.7126	0.45993	0.1149:0.0:0.8851:0.0	.	.	.	.	I	63	.	.	T	-	2	0	PLOD3	100640569	1.000000	0.71417	0.997000	0.53966	0.500000	0.33767	2.500000	0.45381	2.077000	0.62373	0.462000	0.41574	ACC	PLOD3	-	NULL	ENSG00000106397		0.607	PLOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLOD3	HGNC	protein_coding	OTTHUMT00000347470.1	120	0.00	0	G			100853849	100853849	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000454310	ensembl	human	novel	69_37n	missense	147	21.58	41	SNP	1.000	A
POLR3F	10621	genome.wustl.edu	37	20	18462391	18462391	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B6-A0IB-01A-11W-A050-09	TCGA-B6-A0IB-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ff80d5cd-7aed-499f-a472-153cc40f65de	0caeac20-293e-4c97-8074-3f9d78e5ef3e	g.chr20:18462391delC	ENST00000377603.4	+	8	1190	c.810delC	c.(808-810)tacfs	p.Y270fs	POLR3F_ENST00000462997.1_3'UTR	NM_006466.2	NP_006457.2	Q9H1D9	RPC6_HUMAN	polymerase (RNA) III (DNA directed) polypeptide F, 39 kDa	270				AKEGTVGSVDGHMKLYRAVNPIIPPTGLVRAPCGLC -> C KRRHSWQCRWTHETVQGSQSNHPSHRFGPGHPVDSA (in Ref. 1). {ECO:0000305}.	defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|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)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)	p.Y270fs*1(1)		breast(2)	2						TGAAACTGTACAGGGCAGTCA	0.488																																					GBM(69;898 1468 19907 52011)	dbGAP											1	Deletion - Frameshift(1)	breast(1)											256.0	227.0	237.0					20																	18462391		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			U93869	CCDS13135.1	20p11.23	2013-01-21	2002-08-29		ENSG00000132664	ENSG00000132664		"""RNA polymerase subunits"""	15763	protein-coding gene	gene with protein product	"""RNA polymerase III C39 subunit"""		"""polymerase (RNA) III (DNA directed) polypeptide F (39 kDa)"""			9171375	Standard	NM_006466		Approved	RPC39, RPC6	uc002wqv.3	Q9H1D9	OTTHUMG00000031971	ENST00000377603.4:c.810delC	20.37:g.18462391delC	ENSP00000366828:p.Tyr270fs		A8K4C7|O15319	Frame_Shift_Del	DEL	pfam_RNA_pol_Rpc34,pirsf_RNA_pol_Rpc34	p.Y270fs	ENST00000377603.4	37	c.810	CCDS13135.1	20																																																																																			POLR3F	-	pfam_RNA_pol_Rpc34,pirsf_RNA_pol_Rpc34	ENSG00000132664		0.488	POLR3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR3F	HGNC	protein_coding	OTTHUMT00000078170.2	99	0.00	0	C	NM_006466		18462391	18462391	+1	no_errors	ENST00000377603	ensembl	human	known	69_37n	frame_shift_del	113	30.64	53	DEL	0.998	-
PROX1	5629	genome.wustl.edu	37	1	214170689	214170689	+	Missense_Mutation	SNP	G	G	T			TCGA-B6-A0IB-01A-11W-A050-09	TCGA-B6-A0IB-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ff80d5cd-7aed-499f-a472-153cc40f65de	0caeac20-293e-4c97-8074-3f9d78e5ef3e	g.chr1:214170689G>T	ENST00000366958.4	+	2	1419	c.811G>T	c.(811-813)Gat>Tat	p.D271Y	PROX1_ENST00000261454.4_Missense_Mutation_p.D271Y|PROX1_ENST00000498508.2_Missense_Mutation_p.D271Y|PROX1_ENST00000435016.1_Missense_Mutation_p.D271Y	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	271					aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.D271Y(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		AAATGATGAAGATGGTAACCT	0.517																																						dbGAP											1	Substitution - Missense(1)	breast(1)											62.0	62.0	62.0					1																	214170689		2203	4300	6503	-	-	-	SO:0001583	missense	0			U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"""Homeoboxes / PROS class"""	9459	protein-coding gene	gene with protein product		601546	"""prospero-related homeobox 1"""			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.811G>T	1.37:g.214170689G>T	ENSP00000355925:p.Asp271Tyr		A6NK29|A8K2B1|Q5SW76|Q8TB91	Missense_Mutation	SNP	pfam_Prox1,superfamily_Homeodomain-like	p.D271Y	ENST00000366958.4	37	c.811	CCDS31021.1	1	.	.	.	.	.	.	.	.	.	.	G	14.47	2.545277	0.45280	.	.	ENSG00000117707	ENST00000498508;ENST00000366958;ENST00000435016;ENST00000261454	T;T;T;T	0.48522	1.95;0.81;1.95;1.95	5.93	5.93	0.95920	.	0.095927	0.64402	D	0.000001	T	0.65396	0.2687	L	0.47716	1.5	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.62305	-0.6882	10	0.51188	T	0.08	-4.8189	20.3368	0.98748	0.0:0.0:1.0:0.0	.	271	Q92786	PROX1_HUMAN	Y	271	ENSP00000420283:D271Y;ENSP00000355925:D271Y;ENSP00000400694:D271Y;ENSP00000261454:D271Y	ENSP00000261454:D271Y	D	+	1	0	PROX1	212237312	1.000000	0.71417	0.998000	0.56505	0.907000	0.53573	9.624000	0.98398	2.805000	0.96524	0.655000	0.94253	GAT	PROX1	-	pfam_Prox1	ENSG00000117707		0.517	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PROX1	HGNC	protein_coding	OTTHUMT00000089727.6	109	0.00	0	G	NM_002763		214170689	214170689	+1	no_errors	ENST00000261454	ensembl	human	known	69_37n	missense	151	16.57	30	SNP	1.000	T
PTK7	5754	genome.wustl.edu	37	6	43107257	43107257	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A0IB-01A-11W-A050-09	TCGA-B6-A0IB-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ff80d5cd-7aed-499f-a472-153cc40f65de	0caeac20-293e-4c97-8074-3f9d78e5ef3e	g.chr6:43107257C>T	ENST00000230419.4	+	10	1833	c.1612C>T	c.(1612-1614)Cgg>Tgg	p.R538W	PTK7_ENST00000345201.2_Intron|PTK7_ENST00000481273.1_Missense_Mutation_p.R546W|PTK7_ENST00000352931.2_Missense_Mutation_p.R538W|PTK7_ENST00000349241.2_Intron	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	538	Ig-like C2-type 6.				actin cytoskeleton reorganization (GO:0031532)|axis elongation (GO:0003401)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|establishment of epithelial cell apical/basal polarity (GO:0045198)|establishment of planar polarity (GO:0001736)|lung-associated mesenchyme development (GO:0060484)|neural tube closure (GO:0001843)|peptidyl-tyrosine phosphorylation (GO:0018108)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of neuron projection development (GO:0010976)|signal transduction (GO:0007165)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.R538W(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			TAAGTGGGAACGGGCAGGTGG	0.617																																						dbGAP											1	Substitution - Missense(1)	breast(1)											68.0	69.0	68.0					6																	43107257		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF447176	CCDS4884.1, CCDS4885.1, CCDS4886.1, CCDS4887.1, CCDS59021.1	6p21.1-p12.2	2013-02-18	2013-02-18		ENSG00000112655	ENSG00000112655	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9618	protein-coding gene	gene with protein product		601890	"""PTK7 protein tyrosine kinase 7"""			7478540	Standard	NM_002821		Approved	CCK4	uc011dve.2	Q13308	OTTHUMG00000014721	ENST00000230419.4:c.1612C>T	6.37:g.43107257C>T	ENSP00000230419:p.Arg538Trp		A8K974|B7Z477|E9PFZ5|Q13417|Q5T650|Q6IQ54|Q8NFA5|Q8NFA6|Q8NFA7|Q8NFA8	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Immunoglobulin,pfam_Prot_kinase_cat_dom,pfam_Ig_V-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.R538W	ENST00000230419.4	37	c.1612	CCDS4884.1	6	.	.	.	.	.	.	.	.	.	.	C	19.84	3.902347	0.72754	.	.	ENSG00000112655	ENST00000230419;ENST00000352931;ENST00000481273	T;T;T	0.32753	1.44;1.44;1.44	5.58	3.68	0.42216	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.110808	0.64402	D	0.000014	T	0.51618	0.1685	M	0.89601	3.045	0.46823	D	0.999219	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.73708	0.978;0.978;0.981	T	0.63963	-0.6518	10	0.87932	D	0	.	12.4899	0.55895	0.5215:0.4785:0.0:0.0	.	546;538;538	E9PFZ5;Q13308-4;Q13308	.;.;PTK7_HUMAN	W	538;538;546	ENSP00000230419:R538W;ENSP00000326029:R538W;ENSP00000418754:R546W	ENSP00000230418:R538W	R	+	1	2	PTK7	43215235	1.000000	0.71417	0.906000	0.35671	0.605000	0.37080	4.736000	0.62059	1.343000	0.45638	0.579000	0.79373	CGG	PTK7	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000112655		0.617	PTK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTK7	HGNC	protein_coding	OTTHUMT00000040580.2	196	0.00	0	C			43107257	43107257	+1	no_errors	ENST00000230419	ensembl	human	known	69_37n	missense	122	28.65	49	SNP	0.988	T
RAB3C	115827	genome.wustl.edu	37	5	57913553	57913553	+	Missense_Mutation	SNP	C	C	G			TCGA-B6-A0IB-01A-11W-A050-09	TCGA-B6-A0IB-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ff80d5cd-7aed-499f-a472-153cc40f65de	0caeac20-293e-4c97-8074-3f9d78e5ef3e	g.chr5:57913553C>G	ENST00000282878.4	+	2	277	c.108C>G	c.(106-108)atC>atG	p.I36M		NM_138453.2	NP_612462.1	Q96E17	RAB3C_HUMAN	RAB3C, member RAS oncogene family	36					antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|vesicle (GO:0031982)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)	p.I36M(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)	21		all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664)		OV - Ovarian serous cystadenocarcinoma(10;1.8e-34)		TACTCATCATCGGCAATAGCA	0.423																																						dbGAP											1	Substitution - Missense(1)	breast(1)											97.0	89.0	92.0					5																	57913553		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY026936	CCDS3976.1	5q13	2008-02-05			ENSG00000152932	ENSG00000152932		"""RAB, member RAS oncogene"""	30269	protein-coding gene	gene with protein product		612829				12296628	Standard	NM_138453		Approved		uc003jrp.3	Q96E17	OTTHUMG00000097053	ENST00000282878.4:c.108C>G	5.37:g.57913553C>G	ENSP00000282878:p.Ile36Met			Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Gtr1_RagA,pfam_ProtSyn_GTP-bd,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.I36M	ENST00000282878.4	37	c.108	CCDS3976.1	5	.	.	.	.	.	.	.	.	.	.	C	17.89	3.499164	0.64298	.	.	ENSG00000152932	ENST00000282878	T	0.80123	-1.34	5.7	-6.75	0.01738	Small GTP-binding protein domain (1);	0.000000	0.64402	D	0.000002	D	0.84165	0.5412	M	0.75777	2.31	0.58432	D	0.999998	D	0.89917	1.0	D	0.76575	0.988	D	0.83768	0.0218	10	0.87932	D	0	-23.9232	9.1487	0.36948	0.0908:0.3883:0.0:0.5209	.	36	Q96E17	RAB3C_HUMAN	M	36	ENSP00000282878:I36M	ENSP00000282878:I36M	I	+	3	3	RAB3C	57949310	0.010000	0.17322	0.898000	0.35279	0.961000	0.63080	-0.972000	0.03802	-1.223000	0.02584	-0.768000	0.03414	ATC	RAB3C	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000152932		0.423	RAB3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB3C	HGNC	protein_coding	OTTHUMT00000214156.2	73	0.00	0	C	NM_138453		57913553	57913553	+1	no_errors	ENST00000282878	ensembl	human	known	69_37n	missense	61	24.69	20	SNP	0.912	G
RGAG1	57529	genome.wustl.edu	37	X	109694759	109694759	+	Missense_Mutation	SNP	G	G	T			TCGA-B6-A0IB-01A-11W-A050-09	TCGA-B6-A0IB-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ff80d5cd-7aed-499f-a472-153cc40f65de	0caeac20-293e-4c97-8074-3f9d78e5ef3e	g.chrX:109694759G>T	ENST00000465301.2	+	3	1160	c.914G>T	c.(913-915)gGa>gTa	p.G305V	RGAG1_ENST00000540313.1_Missense_Mutation_p.G305V	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	305								p.G305V(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						CTAGACTCTGGAATAATGTCA	0.478																																						dbGAP											1	Substitution - Missense(1)	breast(1)											216.0	188.0	198.0					X																	109694759		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.914G>T	X.37:g.109694759G>T	ENSP00000419786:p.Gly305Val		Q9P2M8	Missense_Mutation	SNP	NULL	p.G305V	ENST00000465301.2	37	c.914	CCDS14552.1	X	.	.	.	.	.	.	.	.	.	.	G	11.02	1.515328	0.27123	.	.	ENSG00000243978	ENST00000465301;ENST00000540313;ENST00000540483	T;T	0.61742	0.08;0.08	3.91	-1.86	0.07760	.	0.695108	0.11881	N	0.520480	T	0.36936	0.0985	N	0.19112	0.55	0.19945	N	0.999949	P	0.38078	0.617	B	0.39738	0.308	T	0.24584	-1.0156	9	.	.	.	1.0891	5.9286	0.19126	0.226:0.259:0.515:0.0	.	305	Q8NET4	RGAG1_HUMAN	V	305	ENSP00000419786:G305V;ENSP00000441452:G305V	.	G	+	2	0	RGAG1	109581415	0.001000	0.12720	0.000000	0.03702	0.020000	0.10135	0.003000	0.13083	-0.591000	0.05859	-0.191000	0.12829	GGA	RGAG1	-	NULL	ENSG00000243978		0.478	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGAG1	HGNC	protein_coding	OTTHUMT00000057906.2	304	0.00	0	G	NM_020769		109694759	109694759	+1	no_errors	ENST00000465301	ensembl	human	known	69_37n	missense	210	14.98	37	SNP	0.009	T
RSL1D1	26156	genome.wustl.edu	37	16	11940376	11940376	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A0IB-01A-11W-A050-09	TCGA-B6-A0IB-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ff80d5cd-7aed-499f-a472-153cc40f65de	0caeac20-293e-4c97-8074-3f9d78e5ef3e	g.chr16:11940376G>A	ENST00000571133.1	-	5	689	c.617C>T	c.(616-618)tCt>tTt	p.S206F	RSL1D1_ENST00000542106.1_5'UTR	NM_015659.2	NP_056474.2	O76021	RL1D1_HUMAN	ribosomal L1 domain containing 1	206					osteoblast differentiation (GO:0001649)|regulation of apoptotic process (GO:0042981)|regulation of cellular senescence (GO:2000772)|regulation of protein localization (GO:0032880)	membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)	p.S206F(1)		NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	15						ACCACTTTTAGAAATGTTTAA	0.323																																						dbGAP											1	Substitution - Missense(1)	breast(1)											92.0	90.0	90.0					16																	11940376		2197	4300	6497	-	-	-	SO:0001583	missense	0			AY154473	CCDS10551.1	16p13.13	2011-08-12			ENSG00000171490	ENSG00000171490			24534	protein-coding gene	gene with protein product		615874				15334068, 9859858	Standard	NM_015659		Approved	PBK1, L12, DKFZP564M182, CSIG, UTP30	uc002dbp.1	O76021	OTTHUMG00000129824	ENST00000571133.1:c.617C>T	16.37:g.11940376G>A	ENSP00000460871:p.Ser206Phe		B4DJ58|D3DUG7|Q2M1T7|Q6PL22|Q8IWS7|Q8WUZ1|Q9HDA9|Q9Y3Z9	Missense_Mutation	SNP	pfam_Ribosomal_L1,superfamily_Ribosomal_L1_SF	p.S206F	ENST00000571133.1	37	c.617	CCDS10551.1	16	.	.	.	.	.	.	.	.	.	.	G	19.07	3.756893	0.69648	.	.	ENSG00000171490	ENST00000355674;ENST00000396503	T	0.45668	0.89	5.33	5.33	0.75918	Ribosomal protein L1, 2-layer alpha/beta-sandwich (1);Ribosomal protein L1, superfamily (1);	0.243688	0.41294	D	0.000907	T	0.68329	0.2989	M	0.84846	2.72	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.76071	0.987;0.987	T	0.73956	-0.3819	10	0.87932	D	0	-19.4715	15.7704	0.78164	0.0:0.0:1.0:0.0	.	206;206	Q32Q62;O76021	.;RL1D1_HUMAN	F	206	ENSP00000347897:S206F	ENSP00000347897:S206F	S	-	2	0	RSL1D1	11847877	1.000000	0.71417	0.997000	0.53966	0.934000	0.57294	2.719000	0.47244	2.502000	0.84385	0.555000	0.69702	TCT	RSL1D1	-	pfam_Ribosomal_L1,superfamily_Ribosomal_L1_SF	ENSG00000171490		0.323	RSL1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSL1D1	HGNC	protein_coding	OTTHUMT00000252059.2	97	0.00	0	G	NM_015659		11940376	11940376	-1	no_errors	ENST00000571133	ensembl	human	known	69_37n	missense	139	16.17	27	SNP	1.000	A
SLC9A3R1	9368	genome.wustl.edu	37	17	72764791	72764791	+	Missense_Mutation	SNP	T	T	C			TCGA-B6-A0IB-01A-11W-A050-09	TCGA-B6-A0IB-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ff80d5cd-7aed-499f-a472-153cc40f65de	0caeac20-293e-4c97-8074-3f9d78e5ef3e	g.chr17:72764791T>C	ENST00000262613.5	+	6	1268	c.1073T>C	c.(1072-1074)cTc>cCc	p.L358P	SLC9A3R1_ENST00000413388.2_Missense_Mutation_p.L202P	NM_004252.4	NP_004243.1	O14745	NHRF1_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1	358					actin cytoskeleton organization (GO:0030036)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|bile acid secretion (GO:0032782)|cellular phosphate ion homeostasis (GO:0030643)|cellular protein localization (GO:0034613)|glutathione transport (GO:0034635)|microvillus assembly (GO:0030033)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of sodium:proton antiporter activity (GO:0032416)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|protein complex assembly (GO:0006461)|regulation of excretion (GO:0044062)|regulation of protein kinase activity (GO:0045859)|regulation of sodium:proton antiporter activity (GO:0032415)|renal absorption (GO:0070293)|renal phosphate ion absorption (GO:0097291)|renal sodium ion transport (GO:0003096)|Wnt signaling pathway (GO:0016055)	actin cytoskeleton (GO:0015629)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell periphery (GO:0071944)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|membrane raft (GO:0045121)|microvillus (GO:0005902)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)|vesicle (GO:0031982)	beta-2 adrenergic receptor binding (GO:0031698)|beta-catenin binding (GO:0008013)|chloride channel regulator activity (GO:0017081)|growth factor receptor binding (GO:0070851)|PDZ domain binding (GO:0030165)|phosphatase binding (GO:0019902)|protein self-association (GO:0043621)|receptor binding (GO:0005102)			large_intestine(4)	4						TTCAGCAACCTCTGAGCGCCC	0.572																																						dbGAP											0													41.0	46.0	45.0					17																	72764791		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF015926	CCDS11705.1	17q25.1	2014-09-04	2012-03-22		ENSG00000109062	ENSG00000109062			11075	protein-coding gene	gene with protein product		604990	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulatory factor 1"", ""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulator 1"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 1"""			9314537, 9430655	Standard	NM_004252		Approved	NHERF, EBP50	uc002jlo.4	O14745	OTTHUMG00000178863	ENST00000262613.5:c.1073T>C	17.37:g.72764791T>C	ENSP00000262613:p.Leu358Pro		B3KY21|O43552|Q86WQ5	Missense_Mutation	SNP	pfam_PDZ,pfam_EBP50_C-term,superfamily_PDZ,smart_PDZ,pirsf_NaH_exchngr_reg_CF_NHE-RF,pfscan_PDZ	p.L358P	ENST00000262613.5	37	c.1073	CCDS11705.1	17	.	.	.	.	.	.	.	.	.	.	T	21.6	4.174048	0.78452	.	.	ENSG00000109062	ENST00000262613	T	0.42513	0.97	4.88	4.88	0.63580	EBP50, C-terminal (2);	0.000000	0.64402	D	0.000002	T	0.59756	0.2217	L	0.53249	1.67	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.63664	-0.6586	10	0.87932	D	0	-16.8604	14.5079	0.67764	0.0:0.0:0.0:1.0	.	358	O14745	NHRF1_HUMAN	P	358	ENSP00000262613:L358P	ENSP00000262613:L358P	L	+	2	0	SLC9A3R1	70276386	1.000000	0.71417	1.000000	0.80357	0.780000	0.44128	5.765000	0.68834	1.827000	0.53221	0.482000	0.46254	CTC	SLC9A3R1	-	pfam_EBP50_C-term,pirsf_NaH_exchngr_reg_CF_NHE-RF	ENSG00000109062		0.572	SLC9A3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A3R1	HGNC	protein_coding	OTTHUMT00000443671.1	77	0.00	0	T			72764791	72764791	+1	no_errors	ENST00000262613	ensembl	human	known	69_37n	missense	21	30.00	9	SNP	1.000	C
SLCO1A2	6579	genome.wustl.edu	37	12	21445147	21445147	+	Missense_Mutation	SNP	T	T	C			TCGA-B6-A0IB-01A-11W-A050-09	TCGA-B6-A0IB-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ff80d5cd-7aed-499f-a472-153cc40f65de	0caeac20-293e-4c97-8074-3f9d78e5ef3e	g.chr12:21445147T>C	ENST00000307378.6	-	13	2281	c.1561A>G	c.(1561-1563)Agt>Ggt	p.S521G	SLCO1A2_ENST00000537524.1_Missense_Mutation_p.S389G|SLCO1A2_ENST00000458504.1_Missense_Mutation_p.S389G|SLCO1A2_ENST00000390670.3_Missense_Mutation_p.S519G|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.S521G	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	521					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)	p.S521G(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48					Aminohippurate(DB00345)|Atorvastatin(DB01076)|Bumetanide(DB00887)|Chlorambucil(DB00291)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Enalapril(DB00584)|Erythromycin(DB00199)|Estradiol(DB00783)|Estriol(DB04573)|Estrone(DB00655)|Fexofenadine(DB00950)|Glyburide(DB01016)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Indinavir(DB00224)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Mirabegron(DB08893)|Naloxone(DB01183)|Naproxen(DB00788)|Nelfinavir(DB00220)|Ouabain(DB01092)|Pravastatin(DB00175)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rocuronium(DB00728)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Simvastatin(DB00641)|Spironolactone(DB00421)|Sumatriptan(DB00669)|Tauroursodeoxycholic acid(DB08834)|Testosterone(DB00624)|Tolbutamide(DB01124)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)	TAAATGAAACTGCTCATCGCT	0.378																																						dbGAP											1	Substitution - Missense(1)	breast(1)											45.0	44.0	44.0					12																	21445147		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS8686.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000084453	ENSG00000084453		"""Solute carriers"""	10956	protein-coding gene	gene with protein product		602883	"""solute carrier family 21 (organic anion transporter), member 3"""	SLC21A3		9007731	Standard	NM_134431		Approved	OATP, OATP1A2, OATP-A	uc001rer.3	P46721	OTTHUMG00000156259	ENST00000307378.6:c.1561A>G	12.37:g.21445147T>C	ENSP00000305974:p.Ser521Gly		Q9UGP7|Q9UL38	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.S521G	ENST00000307378.6	37	c.1561	CCDS8686.1	12	.	.	.	.	.	.	.	.	.	.	T	14.19	2.461660	0.43736	.	.	ENSG00000084453	ENST00000307378;ENST00000452078;ENST00000458504;ENST00000537524;ENST00000390670	T;T;T;T;T	0.45668	0.95;0.95;0.95;0.95;0.89	5.09	3.92	0.45320	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.306381	0.41605	D	0.000846	T	0.46795	0.1411	L	0.58810	1.83	0.27163	N	0.961122	P;B	0.52842	0.956;0.022	P;B	0.53102	0.718;0.071	T	0.33394	-0.9870	10	0.24483	T	0.36	.	9.0845	0.36572	0.2911:0.0:0.0:0.7089	.	519;521	P46721-2;P46721	.;SO1A2_HUMAN	G	521;521;389;389;519	ENSP00000305974:S521G;ENSP00000393973:S521G;ENSP00000394854:S389G;ENSP00000439401:S389G;ENSP00000375088:S519G	ENSP00000305974:S521G	S	-	1	0	SLCO1A2	21336414	0.992000	0.36948	0.891000	0.34965	0.459000	0.32528	0.589000	0.23939	0.921000	0.36994	0.460000	0.39030	AGT	SLCO1A2	-	pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	ENSG00000084453		0.378	SLCO1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO1A2	HGNC	protein_coding	OTTHUMT00000343648.3	189	0.00	0	T	NM_021094		21445147	21445147	-1	no_errors	ENST00000307378	ensembl	human	known	69_37n	missense	85	12.37	12	SNP	0.929	C
SPTBN5	51332	genome.wustl.edu	37	15	42144894	42144894	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B6-A0IB-01A-11W-A050-09	TCGA-B6-A0IB-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ff80d5cd-7aed-499f-a472-153cc40f65de	0caeac20-293e-4c97-8074-3f9d78e5ef3e	g.chr15:42144894delG	ENST00000320955.6	-	61	10614	c.10387delC	c.(10387-10389)cagfs	p.Q3463fs	RNA5SP393_ENST00000363423.1_RNA	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	3463					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		TCTAAGTCCTGGTGTCTGTGC	0.602																																						dbGAP											0													161.0	175.0	170.0					15																	42144894		2040	4195	6235	-	-	-	SO:0001589	frameshift_variant	0			AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.10387delC	15.37:g.42144894delG	ENSP00000317790:p.Gln3463fs			Frame_Shift_Del	DEL	pfam_Spectrin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.Q3463fs	ENST00000320955.6	37	c.10387		15																																																																																			SPTBN5	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000137877		0.602	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	SPTBN5	HGNC	protein_coding	OTTHUMT00000420237.1	100	0.00	0	G	NM_016642		42144894	42144894	-1	no_errors	ENST00000320955	ensembl	human	known	69_37n	frame_shift_del	7	22.22	2	DEL	0.346	-
TMTC3	160418	genome.wustl.edu	37	12	88589349	88589349	+	Missense_Mutation	SNP	A	A	G			TCGA-B6-A0IB-01A-11W-A050-09	TCGA-B6-A0IB-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ff80d5cd-7aed-499f-a472-153cc40f65de	0caeac20-293e-4c97-8074-3f9d78e5ef3e	g.chr12:88589349A>G	ENST00000266712.6	+	14	2888	c.2668A>G	c.(2668-2670)Atc>Gtc	p.I890V		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	891					bud outgrowth involved in lung branching (GO:0060447)|lung alveolus development (GO:0048286)|muscle fiber development (GO:0048747)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	integral component of membrane (GO:0016021)		p.I890V(1)		NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						AACAAAAGACATCAAAGAAAT	0.299																																						dbGAP											1	Substitution - Missense(1)	breast(1)											64.0	64.0	64.0					12																	88589349		2203	4298	6501	-	-	-	SO:0001583	missense	0				CCDS9032.1	12q21.32	2014-09-04			ENSG00000139324	ENSG00000139324		"""Tetratricopeptide (TTC) repeat domain containing"""	26899	protein-coding gene	gene with protein product							Standard	NM_181783		Approved	FLJ90492, SMILE	uc001tau.3	Q6ZXV5	OTTHUMG00000169887	ENST00000266712.6:c.2668A>G	12.37:g.88589349A>G	ENSP00000266712:p.Ile890Val		Q5CZ86|Q5H9T6|Q68DQ6|Q68DX0|Q7Z332|Q8NC50	Missense_Mutation	SNP	pfam_TPR_2,pfam_TPR-1,pfam_DUF1736,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.I890V	ENST00000266712.6	37	c.2668	CCDS9032.1	12	.	.	.	.	.	.	.	.	.	.	A	12.43	1.935541	0.34189	.	.	ENSG00000139324	ENST00000266712	T	0.64438	-0.1	5.42	5.42	0.78866	.	0.055387	0.64402	D	0.000002	T	0.47340	0.1440	L	0.27053	0.805	0.45378	D	0.998367	B	0.19583	0.037	B	0.20184	0.028	T	0.42378	-0.9455	10	0.07175	T	0.84	-10.955	15.7451	0.77932	1.0:0.0:0.0:0.0	.	890	Q6ZXV5-2	.	V	890	ENSP00000266712:I890V	ENSP00000266712:I890V	I	+	1	0	TMTC3	87113480	1.000000	0.71417	0.997000	0.53966	0.853000	0.48598	6.807000	0.75201	2.187000	0.69744	0.482000	0.46254	ATC	TMTC3	-	NULL	ENSG00000139324		0.299	TMTC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMTC3	HGNC	protein_coding	OTTHUMT00000406421.1	79	0.00	0	A	NM_181783		88589349	88589349	+1	no_errors	ENST00000266712	ensembl	human	known	69_37n	missense	26	63.89	46	SNP	1.000	G
TTC39A	22996	genome.wustl.edu	37	1	51767913	51767913	+	Intron	DEL	C	C	-	rs375305601		TCGA-B6-A0IB-01A-11W-A050-09	TCGA-B6-A0IB-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ff80d5cd-7aed-499f-a472-153cc40f65de	0caeac20-293e-4c97-8074-3f9d78e5ef3e	g.chr1:51767913delC	ENST00000447632.2	-	11	1048				TTC39A_ENST00000262675.7_Intron|TTC39A_ENST00000413473.2_Intron|TTC39A_ENST00000371750.5_Intron|TTC39A_ENST00000451380.1_Intron|TTC39A_ENST00000262676.5_Frame_Shift_Del_p.G368fs|TTC39A_ENST00000371747.3_Intron			Q5SRH9	TT39A_HUMAN	tetratricopeptide repeat domain 39A									p.0?(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(2)|prostate(2)|skin(3)|urinary_tract(1)	17						TCTCTCTTGGCCCCCCCCCCG	0.647																																						dbGAP											2	Whole gene deletion(2)	thyroid(1)|central_nervous_system(1)																																								-	-	-	SO:0001627	intron_variant	0			AB007921	CCDS44143.1, CCDS44144.1, CCDS72789.1, CCDS72790.1	1p32.3	2013-01-11	2008-06-23	2008-06-23	ENSG00000085831	ENSG00000085831		"""Tetratricopeptide (TTC) repeat domain containing"""	18657	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 34"""	C1orf34		9455484, 9461476	Standard	XM_005270643		Approved	KIAA0452, DEME-6	uc010onf.2	Q5SRH9	OTTHUMG00000008193	ENST00000447632.2:c.999+115G>-	1.37:g.51767913delC			B7Z782|E7EQY9|G3XAF8|O43417|O75040|Q5SRH5|Q5SRH6|Q5SRH7|Q5SRH8|Q5SRI0|Q5SRI1|Q5SRI2|Q5T7S1|Q6PIU8|Q9BT24	Frame_Shift_Del	DEL	pfam_OMP_IML2_mit/TPR_39	p.G368fs	ENST00000447632.2	37	c.1103		1																																																																																			TTC39A	-	NULL	ENSG00000085831		0.647	TTC39A-004	KNOWN	basic	protein_coding	TTC39A	HGNC	protein_coding	OTTHUMT00000022434.2	16	0.00	0	C			51767913	51767913	-1	no_errors	ENST00000262676	ensembl	human	known	69_37n	frame_shift_del	4	33.33	2	DEL	0.000	-
UBA7	7318	genome.wustl.edu	37	3	49847490	49847490	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A0IB-01A-11W-A050-09	TCGA-B6-A0IB-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ff80d5cd-7aed-499f-a472-153cc40f65de	0caeac20-293e-4c97-8074-3f9d78e5ef3e	g.chr3:49847490G>A	ENST00000333486.3	-	14	1918	c.1760C>T	c.(1759-1761)tCa>tTa	p.S587L	UBA7_ENST00000494212.1_5'Flank	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	587					cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ISG15 activating enzyme activity (GO:0019782)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)	p.S587L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		AGCTGCAGCTGAGGCAGGGGC	0.602																																						dbGAP											1	Substitution - Missense(1)	breast(1)											70.0	65.0	66.0					3																	49847490		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC006378	CCDS2805.1	3p21	2007-11-30	2007-11-30	2007-11-30	ENSG00000182179	ENSG00000182179		"""Ubiquitin-like modifier activating enzymes"""	12471	protein-coding gene	gene with protein product	"""UBA1, ubiquitin-activating enzyme E1 homolog B (yeast)"", ""UBA7, ubiquitin-activating enzyme E1"""	191325	"""ubiquitin-activating enzyme E1-like"""	UBE1L		8327486	Standard	NM_003335		Approved	D8, UBE2, UBA1B	uc003cxr.3	P41226	OTTHUMG00000158267	ENST00000333486.3:c.1760C>T	3.37:g.49847490G>A	ENSP00000333266:p.Ser587Leu		Q9BRB2	Missense_Mutation	SNP	pfam_ThiF_NAD_FAD-bd,pfam_UBact_repeat,pfam_Ub-activating_enz_e1_C,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1	p.S587L	ENST00000333486.3	37	c.1760	CCDS2805.1	3	.	.	.	.	.	.	.	.	.	.	G	13.64	2.298967	0.40694	.	.	ENSG00000182179	ENST00000333486	T	0.46063	0.88	5.56	1.61	0.23674	Molybdenum cofactor biosynthesis, MoeB (1);Ubiquitin-activating enzyme (1);NAD(P)-binding domain (1);	1.455890	0.04081	N	0.309574	T	0.49762	0.1576	M	0.88377	2.95	0.09310	N	1	B	0.17038	0.02	B	0.15870	0.014	T	0.44467	-0.9326	10	0.66056	D	0.02	-0.1315	4.0367	0.09733	0.2783:0.0:0.5509:0.1707	.	587	P41226	UBA7_HUMAN	L	587	ENSP00000333266:S587L	ENSP00000333266:S587L	S	-	2	0	UBA7	49822494	0.464000	0.25807	0.002000	0.10522	0.840000	0.47671	2.142000	0.42177	0.677000	0.31305	0.655000	0.94253	TCA	UBA7	-	pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB,tigrfam_UBQ-activ_enz_E1	ENSG00000182179		0.602	UBA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBA7	HGNC	protein_coding	OTTHUMT00000350503.1	71	0.00	0	G	NM_003335		49847490	49847490	-1	no_errors	ENST00000333486	ensembl	human	known	69_37n	missense	13	43.48	10	SNP	0.000	A
YIPF4	84272	genome.wustl.edu	37	2	32515694	32515694	+	Missense_Mutation	SNP	C	C	A	rs115575403	byFrequency	TCGA-B6-A0IB-01A-11W-A050-09	TCGA-B6-A0IB-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ff80d5cd-7aed-499f-a472-153cc40f65de	0caeac20-293e-4c97-8074-3f9d78e5ef3e	g.chr2:32515694C>A	ENST00000238831.4	+	2	468	c.222C>A	c.(220-222)aaC>aaA	p.N74K		NM_032312.3	NP_115688.1	Q9BSR8	YIPF4_HUMAN	Yip1 domain family, member 4	74						endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)				kidney(2)|lung(3)|prostate(3)|skin(1)	9	Acute lymphoblastic leukemia(172;0.155)					CTGAAGATAACAAGCCACTCT	0.323																																						dbGAP											0													31.0	35.0	34.0					2																	32515694		2197	4297	6494	-	-	-	SO:0001583	missense	0			AK098486	CCDS1781.1	2p22.3	2008-02-05			ENSG00000119820	ENSG00000119820		"""Yip1 domain family"""	28145	protein-coding gene	gene with protein product						12477932	Standard	NM_032312		Approved	MGC11061, FinGER4	uc002rok.3	Q9BSR8	OTTHUMG00000128452	ENST00000238831.4:c.222C>A	2.37:g.32515694C>A	ENSP00000238831:p.Asn74Lys			Missense_Mutation	SNP	pfam_Yip1	p.N74K	ENST00000238831.4	37	c.222	CCDS1781.1	2	.	.	.	.	.	.	.	.	.	.	C	14.12	2.441635	0.43326	.	.	ENSG00000119820	ENST00000238831	T	0.45276	0.9	5.38	1.58	0.23477	.	0.246896	0.46145	D	0.000311	T	0.32763	0.0840	L	0.47716	1.5	0.43708	D	0.996175	B	0.25105	0.118	B	0.17098	0.017	T	0.10636	-1.0621	10	0.66056	D	0.02	.	9.1798	0.37134	0.0:0.5745:0.0:0.4255	.	74	Q9BSR8	YIPF4_HUMAN	K	74	ENSP00000238831:N74K	ENSP00000238831:N74K	N	+	3	2	YIPF4	32369198	1.000000	0.71417	0.998000	0.56505	0.964000	0.63967	0.695000	0.25527	0.006000	0.14734	-0.142000	0.14014	AAC	YIPF4	-	NULL	ENSG00000119820		0.323	YIPF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YIPF4	HGNC	protein_coding	OTTHUMT00000250250.3	28	0.00	0	C	NM_032312		32515694	32515694	+1	no_errors	ENST00000238831	ensembl	human	known	69_37n	missense	11	47.62	10	SNP	0.999	A
ZC2HC1C	79696	genome.wustl.edu	37	14	75537877	75537877	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A0IB-01A-11W-A050-09	TCGA-B6-A0IB-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ff80d5cd-7aed-499f-a472-153cc40f65de	0caeac20-293e-4c97-8074-3f9d78e5ef3e	g.chr14:75537877G>A	ENST00000524913.1	+	2	1090	c.601G>A	c.(601-603)Gcc>Acc	p.A201T	ZC2HC1C_ENST00000439583.2_Missense_Mutation_p.A201T|ZC2HC1C_ENST00000238686.8_Missense_Mutation_p.A201T|ZC2HC1C_ENST00000526748.1_Intron|ACYP1_ENST00000555463.1_5'Flank	NM_024643.2	NP_078919.2	Q53FD0	ZC21C_HUMAN	zinc finger, C2HC-type containing 1C	201							metal ion binding (GO:0046872)	p.A201T(1)									GGCGGAGAAGGCCGTGGCAAA	0.532																																						dbGAP											1	Substitution - Missense(1)	breast(1)											122.0	127.0	125.0					14																	75537877		1960	4135	6095	-	-	-	SO:0001583	missense	0			AK026746	CCDS41972.1, CCDS45138.1	14q24.3	2013-01-10	2012-02-03	2012-02-03	ENSG00000119703	ENSG00000119703		"""Zinc fingers, C2HC-type containing"""	20354	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 140"", ""family with sequence similarity 164, member C"""	C14orf140, FAM164C			Standard	XM_005268062		Approved		uc001xrh.3	Q53FD0	OTTHUMG00000167439	ENST00000524913.1:c.601G>A	14.37:g.75537877G>A	ENSP00000435550:p.Ala201Thr		E9PJQ0|Q9BTA8|Q9H5S9	Missense_Mutation	SNP	NULL	p.A201T	ENST00000524913.1	37	c.601	CCDS41972.1	14	.	.	.	.	.	.	.	.	.	.	G	0.992	-0.693726	0.03303	.	.	ENSG00000119703	ENST00000524913;ENST00000238686;ENST00000439583	T	0.44881	0.91	4.64	0.266	0.15617	.	1.302140	0.05123	N	0.491051	T	0.35219	0.0924	L	0.57536	1.79	0.09310	N	1	B;B	0.31548	0.328;0.221	B;B	0.28011	0.085;0.039	T	0.30736	-0.9968	10	0.48119	T	0.1	-0.0169	2.1586	0.03819	0.2491:0.1267:0.4795:0.1447	.	201;201	Q53FD0;E9PJQ0	F164C_HUMAN;.	T	201	ENSP00000435550:A201T	ENSP00000238686:A201T	A	+	1	0	FAM164C	74607630	0.000000	0.05858	0.002000	0.10522	0.018000	0.09664	-0.112000	0.10791	0.190000	0.20209	0.650000	0.86243	GCC	ZC2HC1C	-	NULL	ENSG00000119703		0.532	ZC2HC1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC2HC1C	HGNC	protein_coding	OTTHUMT00000394616.4	200	0.00	0	G	NM_001042430		75537877	75537877	+1	no_errors	ENST00000524913	ensembl	human	known	69_37n	missense	254	10.21	29	SNP	0.000	A
ZBTB18	10472	genome.wustl.edu	37	1	244218061	244218061	+	Missense_Mutation	SNP	G	G	T			TCGA-B6-A0IB-01A-11W-A050-09	TCGA-B6-A0IB-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ff80d5cd-7aed-499f-a472-153cc40f65de	0caeac20-293e-4c97-8074-3f9d78e5ef3e	g.chr1:244218061G>T	ENST00000358704.4	+	2	1134	c.985G>T	c.(985-987)Gac>Tac	p.D329Y		NM_001278196.1|NM_006352.4|NM_205768.2	NP_001265125.1|NP_006343.2|NP_991331.1	Q99592	ZBT18_HUMAN	zinc finger and BTB domain containing 18	320	Interaction with DNMT3A.				cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron development (GO:0048666)|regulation of cell division (GO:0051302)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D320Y(1)									CCTGAGGGAGGACTCGGTCTT	0.547																																						dbGAP											1	Substitution - Missense(1)	breast(1)											68.0	66.0	66.0					1																	244218061		2203	4300	6503	-	-	-	SO:0001583	missense	0			U38896	CCDS1622.1	1q44	2013-09-19	2013-01-09	2013-01-09	ENSG00000179456	ENSG00000179456		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13030	protein-coding gene	gene with protein product		608433	"""zinc finger protein 238"""	ZNF238		9568537, 9013868	Standard	NM_205768		Approved	C2H2-171, TAZ-1, RP58	uc031psv.1	Q99592	OTTHUMG00000040013	ENST00000358704.4:c.985G>T	1.37:g.244218061G>T	ENSP00000351539:p.Asp329Tyr		A8K5U3|Q13397|Q5VU40|Q8N463|Q9UD99	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.D329Y	ENST00000358704.4	37	c.985	CCDS1622.1	1	.	.	.	.	.	.	.	.	.	.	G	14.40	2.524057	0.44866	.	.	ENSG00000179456	ENST00000366538;ENST00000358704	T	0.12361	2.69	5.73	5.73	0.89815	.	0.053281	0.85682	D	0.000000	T	0.15782	0.0380	N	0.24115	0.695	0.80722	D	1	P;P	0.47910	0.842;0.902	B;P	0.47981	0.36;0.563	T	0.04811	-1.0925	10	0.21014	T	0.42	.	19.8983	0.96975	0.0:0.0:1.0:0.0	.	320;329	Q99592;Q99592-2	ZN238_HUMAN;.	Y	329	ENSP00000351539:D329Y	ENSP00000351539:D329Y	D	+	1	0	ZNF238	242284684	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.430000	0.97488	2.718000	0.92993	0.650000	0.86243	GAC	ZNF238	-	NULL	ENSG00000179456		0.547	ZBTB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF238	HGNC	protein_coding	OTTHUMT00000096513.2	129	0.00	0	G	NM_205768		244218061	244218061	+1	no_errors	ENST00000358704	ensembl	human	known	69_37n	missense	175	17.84	38	SNP	1.000	T
ZNF541	84215	genome.wustl.edu	37	19	48049093	48049094	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B6-A0IB-01A-11W-A050-09	TCGA-B6-A0IB-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ff80d5cd-7aed-499f-a472-153cc40f65de	0caeac20-293e-4c97-8074-3f9d78e5ef3e	g.chr19:48049093_48049094insG	ENST00000391901.3	-	3	691_692	c.692_693insC	c.(691-693)ccgfs	p.P231fs	ZNF541_ENST00000448976.1_Frame_Shift_Ins_p.P231fs|ZNF541_ENST00000314121.4_Frame_Shift_Ins_p.P231fs			Q9H0D2	ZN541_HUMAN	zinc finger protein 541	231					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(1)|lung(2)|prostate(1)|skin(1)	9						CCTCTTCCTCCGGGGGGGCTTC	0.713																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AL136846	CCDS46133.1, CCDS46133.2	19q13.33	2013-01-08			ENSG00000118156	ENSG00000118156		"""Zinc fingers, C2H2-type"""	25294	protein-coding gene	gene with protein product						11230166	Standard	NM_001277075		Approved	DKFZp434I1930	uc002phg.5	Q9H0D2	OTTHUMG00000141262	ENST00000391901.3:c.693dupC	19.37:g.48049100_48049100dupG	ENSP00000375770:p.Pro231fs		Q8NDK8	Frame_Shift_Ins	INS	pfam_ELM2_dom,pfam_Znf_C2H2,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_SANT/Myb,pfscan_ELM2_dom,pfscan_Znf_C2H2	p.E232fs	ENST00000391901.3	37	c.693_692		19																																																																																			ZNF541	-	NULL	ENSG00000118156		0.713	ZNF541-001	KNOWN	basic|appris_candidate|exp_conf	protein_coding	ZNF541	HGNC	protein_coding	OTTHUMT00000280415.1	12	0.00	0	-	NM_032255		48049093	48049094	-1	no_errors	ENST00000314121	ensembl	human	known	69_37n	frame_shift_ins	4	42.86	3	INS	0.350:0.371	G
