#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
ABCB1	5243	genome.wustl.edu	37	7	87135240	87135240	+	Silent	SNP	C	C	T	rs200294906		TCGA-A2-A0CT-01A-31W-A071-09	TCGA-A2-A0CT-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2b412ad8-abda-4cf8-8f68-59dbce80031e	b34c4ee7-2776-40c7-9b34-b53e5674aab8	g.chr7:87135240C>T	ENST00000265724.3	-	28	4026	c.3609G>A	c.(3607-3609)acG>acA	p.T1203T	ABCB1_ENST00000543898.1_Silent_p.T1139T|ABCB1_ENST00000488737.2_5'UTR	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	1203	ABC transporter 2. {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.T1203T(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)	CCAGAGCTGACGTGGCTTCAT	0.418																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											154.0	145.0	148.0					7																	87135240		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.3609G>A	7.37:g.87135240C>T			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.T1203	ENST00000265724.3	37	c.3609	CCDS5608.1	7																																																																																			ABCB1	-	pfam_ABC_transporter-like,pfam_ABC_ATPase_put,smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000085563		0.418	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB1	HGNC	protein_coding	OTTHUMT00000335444.2	85	0.00	0	C	NM_000927		87135240	87135240	-1	no_errors	ENST00000265724	ensembl	human	known	69_37n	silent	108	17.56	23	SNP	0.799	T
ABCF1	23	genome.wustl.edu	37	6	30558385	30558385	+	Missense_Mutation	SNP	G	G	C			TCGA-A2-A0CT-01A-31W-A071-09	TCGA-A2-A0CT-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2b412ad8-abda-4cf8-8f68-59dbce80031e	b34c4ee7-2776-40c7-9b34-b53e5674aab8	g.chr6:30558385G>C	ENST00000326195.8	+	25	2557	c.2445G>C	c.(2443-2445)caG>caC	p.Q815H	ABCF1_ENST00000376545.3_Missense_Mutation_p.Q777H|ABCF1_ENST00000396515.4_Missense_Mutation_p.Q208H	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	815	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				inflammatory response (GO:0006954)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)|ribosome (GO:0005840)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|translation activator activity (GO:0008494)|translation factor activity, nucleic acid binding (GO:0008135)	p.Q815H(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						TGGAGGAGCAGAGTGTTAGCC	0.532																																						dbGAP											1	Substitution - Missense(1)	breast(1)											306.0	325.0	318.0					6																	30558385		1511	2709	4220	-	-	-	SO:0001583	missense	0			AF027302	CCDS34380.1, CCDS34381.1	6p21.33	2012-03-14			ENSG00000204574	ENSG00000204574		"""ATP binding cassette transporters / subfamily F"""	70	protein-coding gene	gene with protein product		603429		ABC50		9790762	Standard	NM_001025091		Approved	EST123147	uc003nql.3	Q8NE71	OTTHUMG00000031094	ENST00000326195.8:c.2445G>C	6.37:g.30558385G>C	ENSP00000313603:p.Gln815His		A2BF75|O14897|Q69YP6	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.Q815H	ENST00000326195.8	37	c.2445	CCDS34380.1	6	.	.	.	.	.	.	.	.	.	.	g	18.76	3.691835	0.68271	.	.	ENSG00000204574	ENST00000326195;ENST00000376545;ENST00000455943;ENST00000396515	D;D;T	0.90900	-2.54;-2.75;3.28	5.49	2.75	0.32379	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.204933	0.41500	D	0.000865	D	0.83046	0.5169	N	0.14661	0.345	0.43947	D	0.996612	D;D;D	0.64830	0.994;0.964;0.964	P;P;P	0.58454	0.839;0.737;0.737	D	0.83386	0.0015	10	0.48119	T	0.1	-30.1056	10.8628	0.46835	0.1966:0.0:0.8034:0.0	.	208;777;815	Q5STZ7;Q2L6I2;Q8NE71	.;.;ABCF1_HUMAN	H	815;777;503;208	ENSP00000313603:Q815H;ENSP00000365728:Q777H;ENSP00000379772:Q208H	ENSP00000313603:Q815H	Q	+	3	2	ABCF1	30666364	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.245000	0.32790	0.301000	0.22738	0.645000	0.84053	CAG	ABCF1	-	smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000204574		0.532	ABCF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ABCF1	HGNC	protein_coding	OTTHUMT00000076137.3	440	0.00	0	G			30558385	30558385	+1	no_errors	ENST00000326195	ensembl	human	known	69_37n	missense	578	13.60	91	SNP	1.000	C
ADCY7	113	genome.wustl.edu	37	16	50324435	50324435	+	Missense_Mutation	SNP	C	C	G			TCGA-A2-A0CT-01A-31W-A071-09	TCGA-A2-A0CT-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2b412ad8-abda-4cf8-8f68-59dbce80031e	b34c4ee7-2776-40c7-9b34-b53e5674aab8	g.chr16:50324435C>G	ENST00000394697.2	+	3	579	c.239C>G	c.(238-240)tCt>tGt	p.S80C	ADCY7_ENST00000254235.3_Missense_Mutation_p.S80C|ADCY7_ENST00000566433.2_Missense_Mutation_p.S80C|ADCY7_ENST00000564044.1_Intron|ADCY7_ENST00000537579.1_Missense_Mutation_p.S80C|ADCY7_ENST00000538642.1_Missense_Mutation_p.S80C			P51828	ADCY7_HUMAN	adenylate cyclase 7	80					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to ethanol (GO:0071361)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|maternal process involved in female pregnancy (GO:0060135)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cAMP biosynthetic process (GO:0030819)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)	p.S80C(1)		breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)		GCGGCCCTCTCTGTGCTGATG	0.647																																						dbGAP											1	Substitution - Missense(1)	breast(1)											90.0	82.0	85.0					16																	50324435		2198	4300	6498	-	-	-	SO:0001583	missense	0			D25538	CCDS10741.1, CCDS73882.1	16q12.1	2013-02-04			ENSG00000121281	ENSG00000121281	4.6.1.1	"""Adenylate cyclases"""	238	protein-coding gene	gene with protein product		600385				7860067	Standard	NM_001286057		Approved	KIAA0037, AC7	uc002egd.1	P51828	OTTHUMG00000133172	ENST00000394697.2:c.239C>G	16.37:g.50324435C>G	ENSP00000378187:p.Ser80Cys		A0AVA6	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.S80C	ENST00000394697.2	37	c.239	CCDS10741.1	16	.	.	.	.	.	.	.	.	.	.	C	5.930	0.355559	0.11239	.	.	ENSG00000121281	ENST00000538642;ENST00000394697;ENST00000537579;ENST00000254235	T;D;T;D	0.81499	-0.96;-1.5;-1.01;-1.5	4.82	2.48	0.30137	.	0.418400	0.17331	U	0.178116	T	0.69860	0.3158	N	0.08118	0	0.21445	N	0.999681	B;P	0.37708	0.26;0.606	B;P	0.47102	0.235;0.537	T	0.61584	-0.7033	10	0.36615	T	0.2	.	10.6508	0.45647	0.676:0.324:0.0:0.0	.	80;80	P51828;F5H4D1	ADCY7_HUMAN;.	C	80	ENSP00000445046:S80C;ENSP00000378187:S80C;ENSP00000437788:S80C;ENSP00000254235:S80C	ENSP00000254235:S80C	S	+	2	0	ADCY7	48881936	0.963000	0.33076	0.354000	0.25760	0.003000	0.03518	1.701000	0.37825	0.309000	0.22966	-0.521000	0.04368	TCT	ADCY7	-	NULL	ENSG00000121281		0.647	ADCY7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY7	HGNC	protein_coding	OTTHUMT00000256877.3	12	0.00	0	C			50324435	50324435	+1	no_errors	ENST00000254235	ensembl	human	known	69_37n	missense	21	22.22	6	SNP	0.985	G
ALDH1L2	160428	genome.wustl.edu	37	12	105456678	105456678	+	Silent	SNP	G	G	A			TCGA-A2-A0CT-01A-31W-A071-09	TCGA-A2-A0CT-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2b412ad8-abda-4cf8-8f68-59dbce80031e	b34c4ee7-2776-40c7-9b34-b53e5674aab8	g.chr12:105456678G>A	ENST00000258494.9	-	7	1049	c.909C>T	c.(907-909)aaC>aaT	p.N303N	ALDH1L2_ENST00000424857.2_Silent_p.N303N	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	303					10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)	p.N303N(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						CTTTTCCATCGTTACCAAAAA	0.398																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											66.0	61.0	62.0					12																	105456678		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK095827	CCDS31891.1	12q23.3	2014-09-11			ENSG00000136010	ENSG00000136010	1.5.1.6	"""Aldehyde dehydrogenases"""	26777	protein-coding gene	gene with protein product	"""mitochondrial 10-formyltetrahydrofolate dehydrogenase"""	613584				20498374	Standard	NM_001034173		Approved	FLJ38508, mtFDH	uc001tlc.3	Q3SY69	OTTHUMG00000169823	ENST00000258494.9:c.909C>T	12.37:g.105456678G>A			Q3SY68|Q68D62|Q6AI55|Q8N922	Silent	SNP	pfam_Aldehyde_DH_dom,pfam_Formyl_transf_N,pfam_Formyl_trans_C,pfam_Acyl_carrier_prot-like,superfamily_Ald_DH/histidinol_DH,superfamily_Formyl_transf_N,superfamily_Formyl_transferase_C-like,superfamily_Acyl_carrier_prot-like,pirsf_10_FTHF_DH,pfscan_Acyl_carrier_prot-like	p.N303	ENST00000258494.9	37	c.909	CCDS31891.1	12																																																																																			ALDH1L2	-	pfam_Formyl_trans_C,superfamily_Formyl_transferase_C-like,pirsf_10_FTHF_DH	ENSG00000136010		0.398	ALDH1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH1L2	HGNC	protein_coding	OTTHUMT00000406098.1	55	0.00	0	G	XM_090294		105456678	105456678	-1	no_errors	ENST00000258494	ensembl	human	known	69_37n	silent	109	24.83	36	SNP	1.000	A
ANK2	287	genome.wustl.edu	37	4	114238897	114238897	+	Missense_Mutation	SNP	C	C	G			TCGA-A2-A0CT-01A-31W-A071-09	TCGA-A2-A0CT-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2b412ad8-abda-4cf8-8f68-59dbce80031e	b34c4ee7-2776-40c7-9b34-b53e5674aab8	g.chr4:114238897C>G	ENST00000357077.4	+	25	2781	c.2728C>G	c.(2728-2730)Ctg>Gtg	p.L910V	ANK2_ENST00000506722.1_Missense_Mutation_p.L889V|ANK2_ENST00000509550.1_Missense_Mutation_p.L119V|ANK2_ENST00000264366.6_Missense_Mutation_p.L910V|ANK2_ENST00000394537.3_Missense_Mutation_p.L910V	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	910					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.L910V(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GTCTCACACTCTGAGCCATGC	0.512																																						dbGAP											1	Substitution - Missense(1)	breast(1)											181.0	145.0	157.0					4																	114238897		2203	4300	6503	-	-	-	SO:0001583	missense	0			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.2728C>G	4.37:g.114238897C>G	ENSP00000349588:p.Leu910Val		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt	p.L910V	ENST00000357077.4	37	c.2728	CCDS3702.1	4	.	.	.	.	.	.	.	.	.	.	C	11.42	1.634055	0.29068	.	.	ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056;ENST00000509550	T;T;T;T;T;T;T;T	0.76060	-0.15;-0.04;-0.27;-0.13;-0.2;-0.24;-0.3;-0.99	6.06	6.06	0.98353	.	0.000000	0.44902	D	0.000412	T	0.55847	0.1946	N	0.11201	0.11	0.80722	D	1	B;P;B;B;B;B	0.37141	0.002;0.584;0.002;0.216;0.003;0.001	B;B;B;B;B;B	0.31751	0.002;0.113;0.001;0.135;0.006;0.001	T	0.58994	-0.7537	10	0.33940	T	0.23	.	16.0477	0.80731	0.0:0.8667:0.1333:0.0	.	119;910;910;910;889;889	E9PCH6;Q01484;Q01484-2;Q01484-4;Q01484-5;F8WEF9	.;ANK2_HUMAN;.;.;.;.	V	889;856;889;925;910;910;910;889;119	ENSP00000423799:L889V;ENSP00000421011:L856V;ENSP00000421067:L889V;ENSP00000424722:L925V;ENSP00000378044:L910V;ENSP00000349588:L910V;ENSP00000264366:L910V;ENSP00000426944:L119V	ENSP00000264366:L910V	L	+	1	2	ANK2	114458346	0.816000	0.29132	1.000000	0.80357	0.981000	0.71138	1.780000	0.38634	2.880000	0.98712	0.650000	0.86243	CTG	ANK2	-	NULL	ENSG00000145362		0.512	ANK2-001	KNOWN	basic|CCDS	protein_coding	ANK2	HGNC	protein_coding	OTTHUMT00000256422.2	61	0.00	0	C	NM_001148		114238897	114238897	+1	no_errors	ENST00000357077	ensembl	human	known	69_37n	missense	63	30.77	28	SNP	1.000	G
ASPM	259266	genome.wustl.edu	37	1	197111819	197111819	+	Silent	SNP	G	G	T			TCGA-A2-A0CT-01A-31W-A071-09	TCGA-A2-A0CT-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2b412ad8-abda-4cf8-8f68-59dbce80031e	b34c4ee7-2776-40c7-9b34-b53e5674aab8	g.chr1:197111819G>T	ENST00000367409.4	-	3	1819	c.1563C>A	c.(1561-1563)ctC>ctA	p.L521L	ASPM_ENST00000294732.7_Silent_p.L521L	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	521					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)		p.L521L(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CTGCACTGTTGAGACATCTTT	0.328																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											166.0	171.0	169.0					1																	197111819		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.1563C>A	1.37:g.197111819G>T			Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Silent	SNP	pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS	p.L521	ENST00000367409.4	37	c.1563	CCDS1389.1	1																																																																																			ASPM	-	NULL	ENSG00000066279		0.328	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASPM	HGNC	protein_coding	OTTHUMT00000088256.1	209	0.47	1	G	NM_018136		197111819	197111819	-1	no_errors	ENST00000367409	ensembl	human	known	69_37n	silent	234	34.54	124	SNP	0.805	T
ATAD2	29028	genome.wustl.edu	37	8	124340530	124340530	+	Silent	SNP	C	C	T			TCGA-A2-A0CT-01A-31W-A071-09	TCGA-A2-A0CT-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2b412ad8-abda-4cf8-8f68-59dbce80031e	b34c4ee7-2776-40c7-9b34-b53e5674aab8	g.chr8:124340530C>T	ENST00000287394.5	-	25	3875	c.3768G>A	c.(3766-3768)agG>agA	p.R1256R	ATAD2_ENST00000521903.1_Silent_p.R574R	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	1256					ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.R1256R(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			CTGTAGTCTTCCTAGAGTCTT	0.338																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											97.0	93.0	94.0					8																	124340530		2203	4298	6501	-	-	-	SO:0001819	synonymous_variant	0			BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"""ATPases / AAA-type"""	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.3768G>A	8.37:g.124340530C>T			Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Silent	SNP	pfam_ATPase_AAA_core,pfam_Bromodomain,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.R1256	ENST00000287394.5	37	c.3768	CCDS6343.1	8																																																																																			ATAD2	-	NULL	ENSG00000156802		0.338	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATAD2	HGNC	protein_coding	OTTHUMT00000381766.2	93	0.00	0	C	NM_014109		124340530	124340530	-1	no_errors	ENST00000287394	ensembl	human	known	69_37n	silent	191	27.65	73	SNP	0.000	T
BTNL3	10917	genome.wustl.edu	37	5	180420100	180420100	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0CT-01A-31W-A071-09	TCGA-A2-A0CT-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2b412ad8-abda-4cf8-8f68-59dbce80031e	b34c4ee7-2776-40c7-9b34-b53e5674aab8	g.chr5:180420100G>A	ENST00000342868.6	+	2	521	c.337G>A	c.(337-339)Ggg>Agg	p.G113R		NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	113						integral component of membrane (GO:0016021)		p.G113R(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			CGGCCTGTATGGGTGCTGGTT	0.507																																						dbGAP											2	Substitution - Missense(2)	NS(1)|breast(1)											65.0	61.0	62.0					5																	180420100		1924	3781	5705	-	-	-	SO:0001583	missense	0			AB020625	CCDS47358.1	5q35	2014-01-14			ENSG00000168903	ENSG00000168903		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	1143	protein-coding gene	gene with protein product	"""butyrophilin-like receptor"""	606192				10429365	Standard	NM_197975		Approved	BTNLR, BTN9.1	uc003mmr.3	Q6UXE8	OTTHUMG00000162091	ENST00000342868.6:c.337G>A	5.37:g.180420100G>A	ENSP00000341787:p.Gly113Arg		Q496L7|Q9Y2C7	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Ig_V-set,superfamily_ConA-like_lec_gl,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like	p.G113R	ENST00000342868.6	37	c.337	CCDS47358.1	5	.	.	.	.	.	.	.	.	.	.	G	11.35	1.612052	0.28712	.	.	ENSG00000168903	ENST00000342868;ENST00000376852	T	0.64085	-0.08	2.9	-0.502	0.12004	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.53899	0.1825	N	0.12471	0.22	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.45116	-0.9283	9	0.23891	T	0.37	.	3.2821	0.06918	0.4134:0.2134:0.3732:0.0	.	113	Q6UXE8	BTNL3_HUMAN	R	113	ENSP00000341787:G113R	ENSP00000341787:G113R	G	+	1	0	BTNL3	180352706	0.054000	0.20591	0.000000	0.03702	0.001000	0.01503	0.478000	0.22212	0.075000	0.16796	-0.357000	0.07601	GGG	BTNL3	-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr	ENSG00000168903		0.507	BTNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTNL3	HGNC	protein_coding	OTTHUMT00000367176.2	41	0.00	0	G	NM_197975		180420100	180420100	+1	no_errors	ENST00000342868	ensembl	human	known	69_37n	missense	31	49.18	30	SNP	0.000	A
C1QL1	10882	genome.wustl.edu	37	17	43045072	43045073	+	Frame_Shift_Ins	INS	-	-	C	rs142346313	byFrequency	TCGA-A2-A0CT-01A-31W-A071-09	TCGA-A2-A0CT-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2b412ad8-abda-4cf8-8f68-59dbce80031e	b34c4ee7-2776-40c7-9b34-b53e5674aab8	g.chr17:43045072_43045073insC	ENST00000253407.3	-	1	366_367	c.344_345insG	c.(343-345)ggcfs	p.G115fs		NM_006688.3	NP_006679.1	O75973	C1QRF_HUMAN	complement component 1, q subcomponent-like 1	115	Collagen-like.				locomotory behavior (GO:0007626)	collagen trimer (GO:0005581)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)				lung(1)|prostate(1)	2		Prostate(33;0.155)				Tggcgccgctgccccccgcgcc	0.738																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF410771	CCDS11492.1	17q21	2010-08-18			ENSG00000131094	ENSG00000131094			24182	protein-coding gene	gene with protein product		611586				9878755	Standard	NM_006688		Approved	CRF, C1QRF, C1QTNF14	uc002ihv.3	O75973	OTTHUMG00000162944	ENST00000253407.3:c.345dupG	17.37:g.43045078_43045078dupC	ENSP00000253407:p.Gly115fs			Frame_Shift_Ins	INS	pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q	p.S116fs	ENST00000253407.3	37	c.345_344	CCDS11492.1	17																																																																																			C1QL1	-	NULL	ENSG00000131094		0.738	C1QL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1QL1	HGNC	protein_coding	OTTHUMT00000371119.3	9	0.00	0	-	NM_006688		43045072	43045073	-1	no_errors	ENST00000253407	ensembl	human	known	69_37n	frame_shift_ins	13	13.33	2	INS	0.846:0.834	C
PRR27	401137	genome.wustl.edu	37	4	71021774	71021774	+	Missense_Mutation	SNP	C	C	T	rs577881430	byFrequency	TCGA-A2-A0CT-01A-31W-A071-09	TCGA-A2-A0CT-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2b412ad8-abda-4cf8-8f68-59dbce80031e	b34c4ee7-2776-40c7-9b34-b53e5674aab8	g.chr4:71021774C>T	ENST00000344526.5	+	2	244	c.55C>T	c.(55-57)Cgg>Tgg	p.R19W	C4orf40_ENST00000502294.1_Missense_Mutation_p.R19W|C4orf40_ENST00000502441.2_3'UTR	NM_214711.3	NP_999876.2	Q6MZM9	PRR27_HUMAN		19						extracellular vesicular exosome (GO:0070062)		p.R19W(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						ATTTTAGAGACGGTTCCCCTT	0.259													C|||	2	0.000399361	0.0	0.0	5008	,	,		14117	0.0		0.0	False		,,,				2504	0.002					dbGAP											1	Substitution - Missense(1)	breast(1)											36.0	38.0	37.0					4																	71021774		2197	4277	6474	-	-	-	SO:0001583	missense	0																														ENST00000344526.5:c.55C>T	4.37:g.71021774C>T	ENSP00000343172:p.Arg19Trp		A8MXP0|Q6MZR6	Missense_Mutation	SNP	NULL	p.R19W	ENST00000344526.5	37	c.55	CCDS3535.1	4	.	.	.	.	.	.	.	.	.	.	C	13.04	2.118357	0.37339	.	.	ENSG00000187533	ENST00000502294;ENST00000344526	T;T	0.53857	0.6;0.6	3.32	0.36	0.16097	.	.	.	.	.	T	0.49864	0.1582	N	0.14661	0.345	0.09310	N	1	D	0.89917	1.0	D	0.79784	0.993	T	0.37478	-0.9704	9	0.72032	D	0.01	-1.7275	5.6024	0.17361	0.0:0.5813:0.0:0.4187	.	19	Q6MZM9	CD040_HUMAN	W	19	ENSP00000426249:R19W;ENSP00000343172:R19W	ENSP00000343172:R19W	R	+	1	2	C4orf40	71056363	0.006000	0.16342	0.004000	0.12327	0.030000	0.12068	-0.174000	0.09839	0.032000	0.15435	0.603000	0.83216	CGG	C4orf40	-	NULL	ENSG00000187533		0.259	C4orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C4orf40	HGNC	protein_coding	OTTHUMT00000251558.1	113	0.00	0	C			71021774	71021774	+1	no_errors	ENST00000344526	ensembl	human	known	69_37n	missense	86	42.28	63	SNP	0.004	T
CBWD5	220869	genome.wustl.edu	37	9	70483224	70483224	+	Missense_Mutation	SNP	C	C	A			TCGA-A2-A0CT-01A-31W-A071-09	TCGA-A2-A0CT-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2b412ad8-abda-4cf8-8f68-59dbce80031e	b34c4ee7-2776-40c7-9b34-b53e5674aab8	g.chr9:70483224C>A	ENST00000382405.3	-	4	571	c.394G>T	c.(394-396)Gac>Tac	p.D132Y	CBWD5_ENST00000430059.2_Missense_Mutation_p.D132Y|CBWD5_ENST00000377395.4_Missense_Mutation_p.D132Y|CBWD5_ENST00000377392.5_Missense_Mutation_p.D96Y|CBWD5_ENST00000429800.2_Missense_Mutation_p.D132Y			Q5RIA9	CBWD5_HUMAN	COBW domain containing 5	132				D -> Y (in Ref. 3; BC082271). {ECO:0000305}.			ATP binding (GO:0005524)								all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)		AACAGTATGTCATCAAATTTC	0.323																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			BC067803, BC082271	CCDS75841.1, CCDS75843.1, CCDS75844.1	9q13	2005-08-23			ENSG00000147996	ENSG00000147996			24584	protein-coding gene	gene with protein product	"""dopamine responsive protein"""						Standard	XM_005272748		Approved		uc004ack.3	Q5RIA9	OTTHUMG00000013336	ENST00000382405.3:c.394G>T	9.37:g.70483224C>A	ENSP00000371842:p.Asp132Tyr		Q8N7U8	Missense_Mutation	SNP	pfam_Cbl_biosynth_CobW-like,pfam_Cbl_biosynth_CobW-like_C,superfamily_Cbl_biosynth_CobW-like_C,smart_Cbl_biosynth_CobW-like_C	p.D132Y	ENST00000382405.3	37	c.394		9	.	.	.	.	.	.	.	.	.	.	.	0.010	-1.777015	0.00640	.	.	ENSG00000147996	ENST00000382405;ENST00000377395;ENST00000430059;ENST00000429800;ENST00000377392	T;T;T;T;T	0.39229	1.09;1.09;1.09;1.09;1.09	2.86	2.86	0.33363	Cobalamin (vitamin B12) biosynthesis CobW-like (1);	0.000000	0.85682	N	0.000000	T	0.05227	0.0139	N	0.00010	-3.03	0.22266	N	0.999246	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.41945	-0.9480	10	0.02654	T	1	-0.5034	7.4414	0.27185	0.7783:0.2217:0.0:0.0	.	132;132;132	B4DNG9;Q5RIA9-3;Q5RIA9	.;.;CBWD5_HUMAN	Y	132;132;132;132;96	ENSP00000371842:D132Y;ENSP00000366612:D132Y;ENSP00000397999:D132Y;ENSP00000405076:D132Y;ENSP00000366609:D96Y	ENSP00000366609:D96Y	D	-	1	0	CBWD5	69723044	1.000000	0.71417	0.998000	0.56505	0.342000	0.28953	6.426000	0.73374	0.312000	0.23038	-1.447000	0.01057	GAC	CBWD5	-	pfam_Cbl_biosynth_CobW-like	ENSG00000147996		0.323	CBWD5-001	KNOWN	basic|appris_principal	protein_coding	CBWD5	HGNC	protein_coding	OTTHUMT00000037131.2	51	0.00	0	C			70483224	70483224	-1	no_errors	ENST00000382405	ensembl	human	known	69_37n	missense	10	16.67	2	SNP	1.000	A
CCDC40	55036	genome.wustl.edu	37	17	78055837	78055837	+	Missense_Mutation	SNP	C	C	A			TCGA-A2-A0CT-01A-31W-A071-09	TCGA-A2-A0CT-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2b412ad8-abda-4cf8-8f68-59dbce80031e	b34c4ee7-2776-40c7-9b34-b53e5674aab8	g.chr17:78055837C>A	ENST00000397545.4	+	12	1996	c.1969C>A	c.(1969-1971)Cag>Aag	p.Q657K	CCDC40_ENST00000374877.3_Missense_Mutation_p.Q657K	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	657					axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)		p.Q657K(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			CCTGAGGCTGCAGAAGGAGAA	0.612																																						dbGAP											2	Substitution - Missense(2)	breast(2)											36.0	39.0	38.0					17																	78055837		2159	4275	6434	-	-	-	SO:0001583	missense	0			AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.1969C>A	17.37:g.78055837C>A	ENSP00000380679:p.Gln657Lys		A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Missense_Mutation	SNP	pfam_E3_ubiquit_lig_BRE1	p.Q657K	ENST00000397545.4	37	c.1969	CCDS42395.1	17	.	.	.	.	.	.	.	.	.	.	C	13.23	2.174957	0.38413	.	.	ENSG00000141519	ENST00000374877;ENST00000397545	T;T	0.46819	0.86;0.88	4.86	4.86	0.63082	.	.	.	.	.	T	0.45597	0.1350	M	0.64997	1.995	0.35283	D	0.781525	P;P	0.39424	0.544;0.673	B;B	0.33254	0.077;0.16	T	0.60530	-0.7245	9	0.35671	T	0.21	-44.2785	17.9785	0.89133	0.0:1.0:0.0:0.0	.	657;440	Q4G0X9;Q4G0X9-3	CCD40_HUMAN;.	K	657	ENSP00000364011:Q657K;ENSP00000380679:Q657K	ENSP00000364011:Q657K	Q	+	1	0	CCDC40	75670432	0.976000	0.34144	0.966000	0.40874	0.942000	0.58702	2.423000	0.44705	2.211000	0.71520	0.655000	0.94253	CAG	CCDC40	-	NULL	ENSG00000141519		0.612	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC40	HGNC	protein_coding	OTTHUMT00000256005.2	21	0.00	0	C	XM_371082		78055837	78055837	+1	no_errors	ENST00000397545	ensembl	human	known	69_37n	missense	37	27.45	14	SNP	0.997	A
CDH2	1000	genome.wustl.edu	37	18	25565518	25565518	+	Missense_Mutation	SNP	C	C	G			TCGA-A2-A0CT-01A-31W-A071-09	TCGA-A2-A0CT-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2b412ad8-abda-4cf8-8f68-59dbce80031e	b34c4ee7-2776-40c7-9b34-b53e5674aab8	g.chr18:25565518C>G	ENST00000269141.3	-	12	2372	c.1949G>C	c.(1948-1950)aGa>aCa	p.R650T	CDH2_ENST00000399380.3_Missense_Mutation_p.R619T	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	650	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel morphogenesis (GO:0048514)|calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell adhesion mediated by cadherin (GO:0044331)|cell-cell junction organization (GO:0045216)|glial cell differentiation (GO:0010001)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuronal stem cell maintenance (GO:0097150)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|striated muscle cell differentiation (GO:0051146)	apical plasma membrane (GO:0016324)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|synapse (GO:0045202)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)	p.R650I(1)|p.R650T(1)		NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GGTCCAATTTCTCTTAATAGT	0.343																																						dbGAP											2	Substitution - Missense(2)	large_intestine(1)|breast(1)											66.0	65.0	65.0					18																	25565518		2203	4300	6503	-	-	-	SO:0001583	missense	0			S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558		"""CD molecules"", ""Cadherins / Major cadherins"""	1759	protein-coding gene	gene with protein product	"""N-cadherin"""	114020		NCAD		2384753, 7731968, 2216790	Standard	NM_001792		Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000269141.3:c.1949G>C	18.37:g.25565518C>G	ENSP00000269141:p.Arg650Thr		A8MWK3|B0YIY6|Q14923|Q8N173	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmocollin	p.R650T	ENST00000269141.3	37	c.1949	CCDS11891.1	18	.	.	.	.	.	.	.	.	.	.	C	14.95	2.688976	0.48097	.	.	ENSG00000170558	ENST00000269141;ENST00000399380	T;T	0.60920	0.15;0.15	5.96	4.18	0.49190	Cadherin (3);Cadherin-like (1);	0.084915	0.85682	D	0.000000	T	0.67720	0.2923	M	0.63428	1.95	0.51482	D	0.999925	D;P	0.52996	0.957;0.86	D;P	0.63283	0.913;0.721	T	0.66520	-0.5903	10	0.49607	T	0.09	.	8.7341	0.34516	0.0:0.7185:0.0:0.2815	.	619;650	A8MWK3;P19022	.;CADH2_HUMAN	T	650;619	ENSP00000269141:R650T;ENSP00000382312:R619T	ENSP00000269141:R650T	R	-	2	0	CDH2	23819516	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.547000	0.36190	0.867000	0.35654	0.585000	0.79938	AGA	CDH2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000170558		0.343	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH2	HGNC	protein_coding	OTTHUMT00000133246.3	142	0.00	0	C	NM_001792		25565518	25565518	-1	no_errors	ENST00000269141	ensembl	human	known	69_37n	missense	138	17.37	29	SNP	1.000	G
CDH24	64403	genome.wustl.edu	37	14	23523727	23523728	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A2-A0CT-01A-31W-A071-09	TCGA-A2-A0CT-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2b412ad8-abda-4cf8-8f68-59dbce80031e	b34c4ee7-2776-40c7-9b34-b53e5674aab8	g.chr14:23523727_23523728insG	ENST00000267383.5	-	4	863_864	c.771_772insC	c.(769-774)cccaagfs	p.K258fs	CDH24_ENST00000554034.1_Frame_Shift_Ins_p.K258fs|CDH24_ENST00000397359.3_Frame_Shift_Ins_p.K258fs|CDH24_ENST00000487137.2_Frame_Shift_Ins_p.K258fs			Q86UP0	CAD24_HUMAN	cadherin 24, type 2	258	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		TGTGGGAACTTGGGGGGGTTGT	0.614											OREG0022594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0									,	9,4255		0,9,2123					,	5.0	1.0			54	10,8244		0,10,4117	no	frameshift,frameshift	CDH24	NM_144985.3,NM_022478.3	,	0,19,6240	A1A1,A1R,RR		0.1212,0.2111,0.1518	,	,		19,12499				-	-	-	SO:0001589	frameshift_variant	0			AL137477	CCDS9585.1, CCDS9586.1	14q11.2	2010-08-20	2009-11-20		ENSG00000139880	ENSG00000139880		"""Cadherins / Major cadherins"""	14265	protein-coding gene	gene with protein product			"""cadherin-like 24"""			12734196	Standard	NM_022478		Approved	CDH11L	uc001wil.3	Q86UP0	OTTHUMG00000028715	ENST00000267383.5:c.772dupC	14.37:g.23523734_23523734dupG	ENSP00000267383:p.Lys258fs	764	D3DS44|Q86UP1|Q9NT84	Frame_Shift_Ins	INS	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.K257fs	ENST00000267383.5	37	c.772_771	CCDS9585.1	14																																																																																			CDH24	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000139880		0.614	CDH24-006	KNOWN	basic|CCDS	protein_coding	CDH24	HGNC	protein_coding	OTTHUMT00000257241.2	47	0.00	0	-	NM_022478		23523727	23523728	-1	no_errors	ENST00000267383	ensembl	human	known	69_37n	frame_shift_ins	27	12.90	4	INS	1.000:1.000	G
CDYL	9425	genome.wustl.edu	37	6	4943943	4943943	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0CT-01A-31W-A071-09	TCGA-A2-A0CT-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2b412ad8-abda-4cf8-8f68-59dbce80031e	b34c4ee7-2776-40c7-9b34-b53e5674aab8	g.chr6:4943943G>A	ENST00000328908.5	+	7	1578	c.1447G>A	c.(1447-1449)Gat>Aat	p.D483N	CDYL_ENST00000449732.2_Missense_Mutation_p.D297N|CDYL_ENST00000472453.1_3'UTR|CDYL_ENST00000397588.3_Missense_Mutation_p.D429N|CDYL_ENST00000343762.5_Missense_Mutation_p.D297N			Q9Y232	CDYL1_HUMAN	chromodomain protein, Y-like	483					regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|methylated histone binding (GO:0035064)|transcription corepressor activity (GO:0003714)	p.D483N(1)		breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		ACAGAGTCCAGATGGCTGTTC	0.408																																						dbGAP											1	Substitution - Missense(1)	breast(1)											122.0	125.0	124.0					6																	4943943		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF081258	CCDS4491.2, CCDS47364.1	6p25.1	2010-05-04	2003-09-12		ENSG00000153046	ENSG00000153046			1811	protein-coding gene	gene with protein product	"""CDY-like, autosomal"", ""testis-specific chromodomain Y-like protein"""	603778	"""chromodomain protein, Y chromosome-like"""			10192397	Standard	NM_001143970		Approved	DKFZP586C1622, CDYL1	uc003mwj.3	Q9Y232	OTTHUMG00000014170	ENST00000328908.5:c.1447G>A	6.37:g.4943943G>A	ENSP00000330512:p.Asp483Asn		A8K6D6|B4DLG4|Q0VDG7|Q32NC5|Q5VX99|Q6P7T5|Q9BWZ2|Q9Y424	Missense_Mutation	SNP	pfam_Crotonase_core,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow	p.D483N	ENST00000328908.5	37	c.1447		6	.	.	.	.	.	.	.	.	.	.	G	35	5.592682	0.96602	.	.	ENSG00000153046	ENST00000328908;ENST00000397588;ENST00000449732;ENST00000343762	T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.38	5.63	5.63	0.86233	Crotonase, core (1);	0.049276	0.85682	D	0.000000	T	0.77260	0.4104	M	0.75615	2.305	0.80722	D	1	D;D	0.76494	0.999;0.999	P;D	0.72338	0.904;0.977	T	0.73020	-0.4114	10	0.28530	T	0.3	.	18.669	0.91504	0.0:0.0:1.0:0.0	.	429;483	Q9Y232-2;Q9Y232	.;CDYL1_HUMAN	N	483;429;297;297	ENSP00000330512:D483N;ENSP00000380718:D429N;ENSP00000394076:D297N;ENSP00000340908:D297N	ENSP00000330512:D483N	D	+	1	0	CDYL	4888942	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.640000	0.98453	2.644000	0.89710	0.655000	0.94253	GAT	CDYL	-	pfam_Crotonase_core	ENSG00000153046		0.408	CDYL-001	KNOWN	basic	protein_coding	CDYL	HGNC	protein_coding	OTTHUMT00000039736.1	88	0.00	0	G	NM_004824		4943943	4943943	+1	no_errors	ENST00000328908	ensembl	human	known	69_37n	missense	16	78.95	60	SNP	1.000	A
CLASP2	23122	genome.wustl.edu	37	3	33644558	33644558	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0CT-01A-31W-A071-09	TCGA-A2-A0CT-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2b412ad8-abda-4cf8-8f68-59dbce80031e	b34c4ee7-2776-40c7-9b34-b53e5674aab8	g.chr3:33644558C>T	ENST00000468888.2	-	18	1859	c.1813G>A	c.(1813-1815)Gac>Aac	p.D605N	CLASP2_ENST00000480013.1_Missense_Mutation_p.D371N|CLASP2_ENST00000333778.6_Missense_Mutation_p.D381N|CLASP2_ENST00000359576.5_Missense_Mutation_p.D604N|CLASP2_ENST00000487200.1_Missense_Mutation_p.D377N|CLASP2_ENST00000307312.7_Missense_Mutation_p.D93N|CLASP2_ENST00000313350.6_Missense_Mutation_p.D377N|CLASP2_ENST00000539981.1_Missense_Mutation_p.D356N|CLASP2_ENST00000461133.3_Missense_Mutation_p.D371N|CLASP2_ENST00000399362.4_Missense_Mutation_p.D604N			O75122	CLAP2_HUMAN	cytoplasmic linker associated protein 2	371					axon guidance (GO:0007411)|establishment or maintenance of cell polarity (GO:0007163)|fucosylation (GO:0036065)|microtubule anchoring (GO:0034453)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of microtubule-based process (GO:0032886)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)|microtubule plus-end binding (GO:0051010)	p.D604N(1)|p.D381N(1)		breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						ACATCAATGTCACTTCGTGAA	0.502																																						dbGAP											2	Substitution - Missense(2)	breast(2)											30.0	31.0	31.0					3																	33644558		2055	4201	6256	-	-	-	SO:0001583	missense	0			AB014527		3p24.3	2013-01-18			ENSG00000163539	ENSG00000163539			17078	protein-coding gene	gene with protein product		605853				9734811, 10899121	Standard	NM_015097		Approved	KIAA0627	uc021wvc.1	O75122	OTTHUMG00000156489	ENST00000468888.2:c.1813G>A	3.37:g.33644558C>T	ENSP00000419974:p.Asp605Asn		Q7L8F6|Q8N6R6|Q9BQT3|Q9BQT4|Q9H7A3|Q9NSZ2	Missense_Mutation	SNP	pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.D604N	ENST00000468888.2	37	c.1810		3	.	.	.	.	.	.	.	.	.	.	C	35	5.509203	0.96386	.	.	ENSG00000163539	ENST00000468888;ENST00000399362;ENST00000359576;ENST00000307312;ENST00000539981;ENST00000480013;ENST00000461133;ENST00000313350;ENST00000487200;ENST00000333778	T;T;T	0.19806	2.12;2.12;2.12	5.77	5.77	0.91146	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.48059	0.1479	M	0.73962	2.25	0.58432	D	0.999999	D;D;D;D;D	0.76494	0.998;0.999;0.998;0.999;0.996	D;D;D;D;D	0.81914	0.968;0.995;0.968;0.986;0.993	T	0.19160	-1.0314	10	0.22706	T	0.39	-17.8483	19.9795	0.97321	0.0:1.0:0.0:0.0	.	381;371;377;377;604	E7ENG2;O75122;B3KR06;O75122-2;F5H604	.;CLAP2_HUMAN;.;.;.	N	605;604;604;93;356;371;371;377;377;381	ENSP00000419974:D605N;ENSP00000382297:D604N;ENSP00000352581:D604N	ENSP00000304743:D93N	D	-	1	0	CLASP2	33619562	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.118000	0.77137	2.720000	0.93068	0.650000	0.86243	GAC	CLASP2	-	superfamily_ARM-type_fold	ENSG00000163539		0.502	CLASP2-001	NOVEL	basic|appris_candidate_longest	protein_coding	CLASP2	HGNC	protein_coding	OTTHUMT00000344320.4	21	0.00	0	C	NM_001207044		33644558	33644558	-1	no_errors	ENST00000399362	ensembl	human	known	69_37n	missense	30	25.00	10	SNP	1.000	T
CEP19	84984	genome.wustl.edu	37	3	196434580	196434580	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A2-A0CT-01A-31W-A071-09	TCGA-A2-A0CT-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2b412ad8-abda-4cf8-8f68-59dbce80031e	b34c4ee7-2776-40c7-9b34-b53e5674aab8	g.chr3:196434580C>A	ENST00000399942.4	-	2	523	c.229G>T	c.(229-231)Gag>Tag	p.E77*	RNU6-646P_ENST00000364571.1_RNA|CEP19_ENST00000409690.3_Nonsense_Mutation_p.E116*			Q96LK0	CEP19_HUMAN	centrosomal protein 19kDa	112						centriole (GO:0005814)|ciliary basal body (GO:0036064)|spindle pole (GO:0000922)		p.E112*(1)		NS(1)|breast(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	10						TTGGCAAGCTCCTTGTCATCT	0.398																																						dbGAP											1	Substitution - Nonsense(1)	breast(1)											227.0	209.0	215.0					3																	196434580		1891	4110	6001	-	-	-	SO:0001587	stop_gained	0			BC007827	CCDS43193.2	3q29	2014-02-20	2011-05-06	2011-05-06	ENSG00000174007	ENSG00000174007			28209	protein-coding gene	gene with protein product		615586	"""chromosome 3 open reading frame 34"""	C3orf34		21399614	Standard	XM_005269370		Approved	MGC14126	uc011btw.2	Q96LK0	OTTHUMG00000153933	ENST00000399942.4:c.229G>T	3.37:g.196434580C>A	ENSP00000382823:p.Glu77*		B2RA74|Q96I48	Nonsense_Mutation	SNP	NULL	p.E116*	ENST00000399942.4	37	c.346		3	.	.	.	.	.	.	.	.	.	.	C	37	6.407800	0.97542	.	.	ENSG00000174007	ENST00000409690;ENST00000399942	.	.	.	5.56	5.56	0.83823	.	0.189977	0.56097	D	0.000030	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	-22.8935	19.9052	0.97004	0.0:1.0:0.0:0.0	.	.	.	.	X	116;77	.	ENSP00000382823:E77X	E	-	1	0	CEP19	197918977	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.382000	0.59594	2.776000	0.95493	0.655000	0.94253	GAG	CEP19	-	NULL	ENSG00000174007		0.398	CEP19-002	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	CEP19	HGNC	protein_coding	OTTHUMT00000333081.1	110	0.00	0	C	NM_032898		196434580	196434580	-1	no_errors	ENST00000409690	ensembl	human	known	69_37n	nonsense	72	49.66	72	SNP	1.000	A
CNGA3	1261	genome.wustl.edu	37	2	99013495	99013495	+	Missense_Mutation	SNP	C	C	T	rs200819699	byFrequency	TCGA-A2-A0CT-01A-31W-A071-09	TCGA-A2-A0CT-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2b412ad8-abda-4cf8-8f68-59dbce80031e	b34c4ee7-2776-40c7-9b34-b53e5674aab8	g.chr2:99013495C>T	ENST00000272602.2	+	7	1901	c.1862C>T	c.(1861-1863)gCg>gTg	p.A621V	CNGA3_ENST00000409937.1_Missense_Mutation_p.A625V|CNGA3_ENST00000436404.2_Missense_Mutation_p.A603V|CNGA3_ENST00000393504.1_Missense_Mutation_p.A621V			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	621					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to magnesium ion (GO:0032026)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|photoreceptor outer segment membrane (GO:0042622)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)	p.A621V(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						AGGGCGGGCGCGGACCCCAAG	0.622													C|||	2	0.000399361	0.0015	0.0	5008	,	,		18471	0.0		0.0	False		,,,				2504	0.0					dbGAP											2	Substitution - Missense(2)	large_intestine(1)|breast(1)	GRCh37	CM071619	CNGA3	M							32.0	31.0	31.0					2																	99013495		2203	4300	6503	-	-	-	SO:0001583	missense	0			S76069	CCDS2034.1, CCDS42719.1	2q11.2	2013-01-08			ENSG00000144191	ENSG00000144191		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2150	protein-coding gene	gene with protein product		600053		CNCG3, ACHM2		7532814, 9517456, 16382102	Standard	NM_001298		Approved	CCNC1, CCNCa, CNG3	uc002syt.3	Q16281	OTTHUMG00000130561	ENST00000272602.2:c.1862C>T	2.37:g.99013495C>T	ENSP00000272602:p.Ala621Val		E9PF93|Q4VAP7|Q53RD2|Q6ZNA7|Q9UP64	Missense_Mutation	SNP	pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.A621V	ENST00000272602.2	37	c.1862	CCDS2034.1	2	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	9.023	0.985433	0.18889	.	.	ENSG00000144191	ENST00000393504;ENST00000436404;ENST00000272602;ENST00000409937	D;D;D;D	0.97731	-4.4;-4.33;-4.4;-4.51	5.24	0.00536	0.14062	.	0.466873	0.24854	N	0.035067	D	0.92675	0.7672	L	0.29908	0.895	0.09310	N	0.999999	B;B;B	0.18461	0.011;0.008;0.028	B;B;B	0.13407	0.006;0.009;0.009	D	0.85101	0.0957	10	0.36615	T	0.2	.	5.513	0.16890	0.2371:0.5537:0.0:0.2092	.	625;603;621	E9PF93;Q4VAP7;Q16281	.;.;CNGA3_HUMAN	V	621;603;621;625	ENSP00000377140:A621V;ENSP00000410070:A603V;ENSP00000272602:A621V;ENSP00000386761:A625V	ENSP00000272602:A621V	A	+	2	0	CNGA3	98379927	0.000000	0.05858	0.011000	0.14972	0.565000	0.35776	-0.517000	0.06275	0.047000	0.15862	-0.309000	0.09137	GCG	CNGA3	-	NULL	ENSG00000144191		0.622	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNGA3	HGNC	protein_coding	OTTHUMT00000252986.1	40	0.00	0	C	NM_001298		99013495	99013495	+1	no_errors	ENST00000272602	ensembl	human	known	69_37n	missense	41	16.33	8	SNP	0.088	T
CYP2S1	29785	genome.wustl.edu	37	19	41703775	41703775	+	Silent	SNP	C	C	T			TCGA-A2-A0CT-01A-31W-A071-09	TCGA-A2-A0CT-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2b412ad8-abda-4cf8-8f68-59dbce80031e	b34c4ee7-2776-40c7-9b34-b53e5674aab8	g.chr19:41703775C>T	ENST00000310054.4	+	3	651	c.435C>T	c.(433-435)ggC>ggT	p.G145G	CYP2S1_ENST00000542619.1_Intron	NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN	cytochrome P450, family 2, subfamily S, polypeptide 1	145					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.G145G(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						AGCGAGAAGGCGAGGAGCTGA	0.632																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											67.0	65.0	66.0					19																	41703775		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AA301039	CCDS12573.1	19q13.2	2013-11-11	2003-01-14		ENSG00000167600	ENSG00000167600		"""Cytochrome P450s"""	15654	protein-coding gene	gene with protein product		611529	"""cytochrome P450, subfamily IIS, polypeptide 1"""			11181079	Standard	NM_030622		Approved		uc002opw.3	Q96SQ9	OTTHUMG00000182721	ENST00000310054.4:c.435C>T	19.37:g.41703775C>T			Q9BZ66	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450_E_grp-I_CYP2B-like,prints_Cyt_P450_B	p.G145	ENST00000310054.4	37	c.435	CCDS12573.1	19																																																																																			CYP2S1	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000167600		0.632	CYP2S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2S1	HGNC	protein_coding	OTTHUMT00000463287.1	180	0.00	0	C			41703775	41703775	+1	no_errors	ENST00000310054	ensembl	human	known	69_37n	silent	206	10.43	24	SNP	0.090	T
DNAH1	25981	genome.wustl.edu	37	3	52433155	52433156	+	Frame_Shift_Ins	INS	-	-	T	rs548795920	byFrequency	TCGA-A2-A0CT-01A-31W-A071-09	TCGA-A2-A0CT-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2b412ad8-abda-4cf8-8f68-59dbce80031e	b34c4ee7-2776-40c7-9b34-b53e5674aab8	g.chr3:52433155_52433156insT	ENST00000420323.2	+	76	12640_12641	c.12379_12380insT	c.(12379-12381)actfs	p.T4127fs		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	4192					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CTTAACAGGCACTCTGCAGAAT	0.53																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	Exception_encountered	3.37:g.52433155_52433156insT	ENSP00000401514:p.Thr4127fs		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Frame_Shift_Ins	INS	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA	p.T4127fs	ENST00000420323.2	37	c.12379_12380	CCDS46842.1	3																																																																																			DNAH1	-	pfam_Dynein_heavy	ENSG00000114841		0.530	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH1	HGNC	protein_coding	OTTHUMT00000350816.1	149	0.00	0	-	NM_015512		52433155	52433156	+1	no_errors	ENST00000420323	ensembl	human	known	69_37n	frame_shift_ins	114	51.07	119	INS	0.995:0.989	T
EFCAB5	374786	genome.wustl.edu	37	17	28380797	28380797	+	Missense_Mutation	SNP	C	C	T	rs553413830		TCGA-A2-A0CT-01A-31W-A071-09	TCGA-A2-A0CT-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2b412ad8-abda-4cf8-8f68-59dbce80031e	b34c4ee7-2776-40c7-9b34-b53e5674aab8	g.chr17:28380797C>T	ENST00000394835.3	+	10	2017	c.1825C>T	c.(1825-1827)Cgc>Tgc	p.R609C	EFCAB5_ENST00000394832.2_Missense_Mutation_p.R609C|EFCAB5_ENST00000320856.5_Missense_Mutation_p.R609C|EFCAB5_ENST00000541045.1_Missense_Mutation_p.R266C|EFCAB5_ENST00000378738.3_Missense_Mutation_p.R609C|EFCAB5_ENST00000536908.2_Missense_Mutation_p.R553C	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	609							calcium ion binding (GO:0005509)	p.R609C(1)		breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						ACAAGGGTCACGCAGAGAGTC	0.488													C|||	1	0.000199681	0.0008	0.0	5008	,	,		24932	0.0		0.0	False		,,,				2504	0.0					dbGAP											1	Substitution - Missense(1)	breast(1)											248.0	237.0	241.0					17																	28380797		2112	4226	6338	-	-	-	SO:0001583	missense	0			AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"""EF-hand domain containing"""	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.1825C>T	17.37:g.28380797C>T	ENSP00000378312:p.Arg609Cys		B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Missense_Mutation	SNP	pfscan_EF_HAND_2	p.R609C	ENST00000394835.3	37	c.1825	CCDS11254.2	17	.	.	.	.	.	.	.	.	.	.	C	16.82	3.228894	0.58777	.	.	ENSG00000176927	ENST00000536908;ENST00000534836;ENST00000541045;ENST00000394835;ENST00000320856;ENST00000394832;ENST00000378738;ENST00000423598;ENST00000419434	T;T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88;0.88	5.78	0.211	0.15236	.	1.031300	0.07709	N	0.941752	T	0.43500	0.1250	L	0.40543	1.245	0.09310	N	1	D;D;D;D;D;D	0.76494	0.999;0.999;0.998;0.999;0.995;0.99	P;P;P;P;B;P	0.57776	0.676;0.827;0.731;0.747;0.409;0.627	T	0.27157	-1.0082	10	0.45353	T	0.12	5.8403	2.3594	0.04303	0.2655:0.4557:0.129:0.1498	.	553;553;609;609;609;609	B4DS75;F5GYL2;A8MSY9;B5MEA3;E7EVS9;A4FU69	.;.;.;.;.;EFCB5_HUMAN	C	553;352;266;609;609;609;609;553;415	ENSP00000440619:R553C;ENSP00000445575:R266C;ENSP00000378312:R609C;ENSP00000322003:R609C;ENSP00000378309:R609C;ENSP00000368012:R609C;ENSP00000417009:R415C	ENSP00000322003:R609C	R	+	1	0	EFCAB5	25404923	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.071000	0.11505	0.056000	0.16144	-0.126000	0.14955	CGC	EFCAB5	-	NULL	ENSG00000176927		0.488	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB5	HGNC	protein_coding	OTTHUMT00000256120.4	475	0.00	0	C	NM_198529		28380797	28380797	+1	no_errors	ENST00000394835	ensembl	human	known	69_37n	missense	635	29.85	271	SNP	0.000	T
EXT1	2131	genome.wustl.edu	37	8	119122505	119122505	+	Missense_Mutation	SNP	T	T	C			TCGA-A2-A0CT-01A-31W-A071-09	TCGA-A2-A0CT-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2b412ad8-abda-4cf8-8f68-59dbce80031e	b34c4ee7-2776-40c7-9b34-b53e5674aab8	g.chr8:119122505T>C	ENST00000378204.2	-	1	1587	c.781A>G	c.(781-783)Aag>Gag	p.K261E		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	261					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular polysaccharide biosynthetic process (GO:0033692)|embryonic skeletal joint development (GO:0072498)|endoderm development (GO:0007492)|gastrulation (GO:0007369)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm development (GO:0007498)|olfactory bulb development (GO:0021772)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transferase activity, transferring glycosyl groups (GO:0016757)	p.K261E(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			AGCATGTACTTCCTGAGAGGA	0.493			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses																													dbGAP	yes	Rec		Multiple Exostoses Type 1	8	8q24.11-q24.13	2131	multiple exostoses type 1 gene		M	1	Substitution - Missense(1)	breast(1)											202.0	161.0	175.0					8																	119122505		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II;HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	S79639	CCDS6324.1	8q24.11	2014-09-17	2013-03-01		ENSG00000182197	ENSG00000182197	2.4.1.224, 2.4.1.225	"""Exostosin glycosyltransferase family"""	3512	protein-coding gene	gene with protein product	"""Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"""	608177	"""Langer-Giedion syndrome chromosome region"", ""exostoses (multiple) 1"", ""exostosin 1"""	LGCR, LGS			Standard	NM_000127		Approved	ttv	uc003yok.1	Q16394	OTTHUMG00000059718	ENST00000378204.2:c.781A>G	8.37:g.119122505T>C	ENSP00000367446:p.Lys261Glu		B2R7V2|Q9BVI9	Missense_Mutation	SNP	pfam_HexNAc_Trfase_a,pfam_Exostosin	p.K261E	ENST00000378204.2	37	c.781	CCDS6324.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.49|14.49	2.550702|2.550702	0.45383|0.45383	.|.	.|.	ENSG00000182197|ENSG00000182197	ENST00000436216|ENST00000378204	.|D	.|0.97731	.|-4.51	5.58|5.58	5.58|5.58	0.84498|0.84498	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.97698|0.97698	0.9245|0.9245	M|M	0.76170|0.76170	2.325|2.325	0.80722|0.80722	D|D	1|1	.|P	.|0.46395	.|0.877	.|P	.|0.49953	.|0.627	D|D	0.97582|0.97582	1.0111|1.0111	5|10	.|0.41790	.|T	.|0.15	-13.7287|-13.7287	15.7372|15.7372	0.77853|0.77853	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|261	.|Q16394	.|EXT1_HUMAN	G|E	50|261	.|ENSP00000367446:K261E	.|ENSP00000367446:K261E	E|K	-|-	2|1	0|0	EXT1|EXT1	119191686|119191686	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.928000|7.928000	0.87587|0.87587	2.114000|2.114000	0.64651|0.64651	0.379000|0.379000	0.24179|0.24179	GAA|AAG	EXT1	-	pfam_Exostosin	ENSG00000182197		0.493	EXT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXT1	HGNC	protein_coding	OTTHUMT00000132768.3	190	0.00	0	T	NM_000127		119122505	119122505	-1	no_errors	ENST00000378204	ensembl	human	known	69_37n	missense	215	12.96	32	SNP	1.000	C
FBN3	84467	genome.wustl.edu	37	19	8196624	8196625	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A2-A0CT-01A-31W-A071-09	TCGA-A2-A0CT-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2b412ad8-abda-4cf8-8f68-59dbce80031e	b34c4ee7-2776-40c7-9b34-b53e5674aab8	g.chr19:8196624_8196625insC	ENST00000600128.1	-	15	2217_2218	c.1803_1804insG	c.(1801-1806)gggctgfs	p.L602fs	FBN3_ENST00000270509.2_Frame_Shift_Ins_p.L602fs|FBN3_ENST00000601739.1_Frame_Shift_Ins_p.L602fs			Q75N90	FBN3_HUMAN	fibrillin 3	602	EGF-like 7; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CCTACCGCCAGCCCCCCCAGGC	0.678																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.1804dupG	19.37:g.8196631_8196631dupC	ENSP00000470498:p.Leu602fs		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Frame_Shift_Ins	INS	pfam_EGF-like_Ca-bd,pfam_TB_dom,pfam_EGF-like_dom,superfamily_TB_dom,smart_EGF-like,smart_EGF-like_Ca-bd,pirsf_Fibrillin,pfscan_EG-like_dom	p.L601fs	ENST00000600128.1	37	c.1804_1803	CCDS12196.1	19																																																																																			FBN3	-	pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pirsf_Fibrillin,pfscan_EG-like_dom	ENSG00000142449		0.678	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN3	HGNC	protein_coding	OTTHUMT00000461428.2	25	0.00	0	-	NM_032447		8196624	8196625	-1	no_errors	ENST00000270509	ensembl	human	known	69_37n	frame_shift_ins	29	12.12	4	INS	1.000:0.999	C
FBXO22	26263	genome.wustl.edu	37	15	76196845	76196845	+	Missense_Mutation	SNP	T	T	C			TCGA-A2-A0CT-01A-31W-A071-09	TCGA-A2-A0CT-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2b412ad8-abda-4cf8-8f68-59dbce80031e	b34c4ee7-2776-40c7-9b34-b53e5674aab8	g.chr15:76196845T>C	ENST00000308275.3	+	2	259	c.154T>C	c.(154-156)Tgg>Cgg	p.W52R	FBXO22_ENST00000540507.1_Intron|FBXO22_ENST00000565131.1_3'UTR|FBXO22_ENST00000453211.2_Missense_Mutation_p.W52R	NM_147188.2	NP_671717.1	Q8NEZ5	FBX22_HUMAN	F-box protein 22	52	F-box.				cellular protein modification process (GO:0006464)|cellular response to starvation (GO:0009267)|nucleocytoplasmic transport (GO:0006913)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein polyubiquitination (GO:0000209)|regulation of skeletal muscle fiber development (GO:0048742)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)	p.W52R(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GTGCCGCTTATGGAGGGAGTG	0.622																																						dbGAP											2	Substitution - Missense(2)	breast(2)											138.0	116.0	124.0					15																	76196845		2197	4294	6491	-	-	-	SO:0001583	missense	0			AF174602	CCDS10287.1, CCDS45310.1	15q23	2008-10-03	2004-06-15		ENSG00000167196	ENSG00000167196		"""F-boxes /  ""other"""""	13593	protein-coding gene	gene with protein product	"""FIST domain containing 1"""	609096	"""F-box only protein 22"""			10531035, 10531037, 17855421	Standard	NM_147188		Approved	FBX22, FISTC1	uc002bbk.3	Q8NEZ5	OTTHUMG00000142841	ENST00000308275.3:c.154T>C	15.37:g.76196845T>C	ENSP00000307833:p.Trp52Arg		Q0D2P8|Q6PIL5|Q8IXW3|Q9H824|Q9UKC0	Missense_Mutation	SNP	pfam_FIST_C_domain,pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like	p.W52R	ENST00000308275.3	37	c.154	CCDS10287.1	15	.	.	.	.	.	.	.	.	.	.	T	21.6	4.171794	0.78452	.	.	ENSG00000167196	ENST00000308275;ENST00000453211	T;T	0.71222	0.42;-0.55	4.11	4.11	0.48088	F-box domain, cyclin-like (2);F-box domain, Skp2-like (1);	0.000000	0.85682	D	0.000000	T	0.76292	0.3967	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.997	T	0.78863	-0.2036	10	0.87932	D	0	-11.7082	12.3707	0.55254	0.0:0.0:0.0:1.0	.	52;52	Q8NEZ5;Q8NEZ5-3	FBX22_HUMAN;.	R	52	ENSP00000307833:W52R;ENSP00000396442:W52R	ENSP00000307833:W52R	W	+	1	0	FBXO22	73983900	0.999000	0.42202	0.973000	0.42090	0.977000	0.68977	4.601000	0.61090	1.846000	0.53633	0.460000	0.39030	TGG	FBXO22	-	pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like	ENSG00000167196		0.622	FBXO22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO22	HGNC	protein_coding	OTTHUMT00000286477.2	60	0.00	0	T	NM_147188		76196845	76196845	+1	no_errors	ENST00000308275	ensembl	human	known	69_37n	missense	10	77.78	35	SNP	0.992	C
FLNB	2317	genome.wustl.edu	37	3	58135903	58135904	+	In_Frame_Ins	INS	-	-	CGT			TCGA-A2-A0CT-01A-31W-A071-09	TCGA-A2-A0CT-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2b412ad8-abda-4cf8-8f68-59dbce80031e	b34c4ee7-2776-40c7-9b34-b53e5674aab8	g.chr3:58135903_58135904insCGT	ENST00000295956.4	+	38	6481_6482	c.6316_6317insCGT	c.(6316-6318)ccg>cCGTcg	p.2107_2108insS	FLNB_ENST00000429972.2_In_Frame_Ins_p.2096_2097insS|FLNB_ENST00000493452.1_In_Frame_Ins_p.1914_1915insS|FLNB_ENST00000358537.3_In_Frame_Ins_p.2083_2084insS|FLNB_ENST00000357272.4_In_Frame_Ins_p.2107_2108insS|FLNB_ENST00000348383.5_Intron|FLNB_ENST00000490882.1_In_Frame_Ins_p.2138_2139insS|FLNB_ENST00000419752.2_In_Frame_Ins_p.1927_1928insS	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	2107	Interaction with FLNA 1.|Interaction with the cytoplasmic tail of GP1BA.				actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)	p.S2138_V2139insS(1)|p.S2107_V2108insS(1)		NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CAGTCGGGCCCCGTCCGTGGCC	0.604																																						dbGAP											2	Insertion - In frame(2)	breast(2)																																								-	-	-	SO:0001652	inframe_insertion	0			AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.6317_6319dupCGT	3.37:g.58135904_58135906dupCGT	ENSP00000295956:p.Ser2107_Ser2107dup		B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	In_Frame_Ins	INS	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.2108in_frame_insS	ENST00000295956.4	37	c.6316_6317	CCDS2885.1	3																																																																																			FLNB	-	superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like	ENSG00000136068		0.604	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLNB	HGNC	protein_coding	OTTHUMT00000353569.1	86	0.00	0	-	NM_001457		58135903	58135904	+1	no_errors	ENST00000295956	ensembl	human	known	69_37n	in_frame_ins	29	56.72	38	INS	1.000:1.000	CGT
FRMD4A	55691	genome.wustl.edu	37	10	13782556	13782556	+	Silent	SNP	G	G	A			TCGA-A2-A0CT-01A-31W-A071-09	TCGA-A2-A0CT-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2b412ad8-abda-4cf8-8f68-59dbce80031e	b34c4ee7-2776-40c7-9b34-b53e5674aab8	g.chr10:13782556G>A	ENST00000357447.2	-	10	938	c.570C>T	c.(568-570)caC>caT	p.H190H	FRMD4A_ENST00000358621.4_Silent_p.H175H|RP11-353M9.1_ENST00000449462.1_RNA|FRMD4A_ENST00000342409.2_Silent_p.H206H|FRMD4A_ENST00000378503.1_Silent_p.H190H	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	190	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)		p.H190H(1)		breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						GTTTCTTGTAGTGCTCAATGA	0.433																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											264.0	209.0	228.0					10																	13782556		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474			25491	protein-coding gene	gene with protein product			"""FERM domain containing 4"""	FRMD4		10718198	Standard	NM_018027		Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.570C>T	10.37:g.13782556G>A			A7E2Y3|Q5T377	Silent	SNP	pfam_DUF3338,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam	p.H190	ENST00000357447.2	37	c.570	CCDS7101.1	10																																																																																			FRMD4A	-	pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain	ENSG00000151474		0.433	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FRMD4A	HGNC	protein_coding	OTTHUMT00000046889.1	89	0.00	0	G	NM_018027		13782556	13782556	-1	no_errors	ENST00000357447	ensembl	human	known	69_37n	silent	105	11.02	13	SNP	1.000	A
FRMPD3	84443	genome.wustl.edu	37	X	106844028	106844028	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A2-A0CT-01A-31W-A071-09	TCGA-A2-A0CT-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2b412ad8-abda-4cf8-8f68-59dbce80031e	b34c4ee7-2776-40c7-9b34-b53e5674aab8	g.chrX:106844028delC	ENST00000276185.4	+	16	2858	c.2858delC	c.(2857-2859)tccfs	p.S953fs				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	953						cytoskeleton (GO:0005856)				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						GCCACATCATCCCTCAGTGAA	0.567																																						dbGAP											0													26.0	23.0	24.0					X																	106844028		876	1991	2867	-	-	-	SO:0001589	frameshift_variant	0			AB058720	CCDS76006.1	Xq22	2008-02-05			ENSG00000147234	ENSG00000147234			29382	protein-coding gene	gene with protein product						11347906	Standard	NM_032428		Approved	RP5-1070B1.1, KIAA1817		Q5JV73	OTTHUMG00000022165	ENST00000276185.4:c.2858delC	X.37:g.106844028delC	ENSP00000276185:p.Ser953fs		Q96JK8	Frame_Shift_Del	DEL	pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ	p.L954fs	ENST00000276185.4	37	c.2858		X																																																																																			FRMPD3	-	NULL	ENSG00000147234		0.567	FRMPD3-201	KNOWN	basic|appris_principal	protein_coding	FRMPD3	HGNC	protein_coding		36	0.00	0	C	XM_042978		106844028	106844028	+1	no_errors	ENST00000276185	ensembl	human	known	69_37n	frame_shift_del	13	13.33	2	DEL	0.903	-
FRYL	285527	genome.wustl.edu	37	4	48636482	48636482	+	5'UTR	SNP	A	A	G			TCGA-A2-A0CT-01A-31W-A071-09	TCGA-A2-A0CT-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2b412ad8-abda-4cf8-8f68-59dbce80031e	b34c4ee7-2776-40c7-9b34-b53e5674aab8	g.chr4:48636482A>G	ENST00000358350.4	-	0	550				FRYL_ENST00000537810.1_5'UTR|FRYL_ENST00000507711.1_5'UTR|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000503238.1_5'Flank|FRYL_ENST00000514783.1_5'Flank	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN	FRY-like						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CACAGTATTTATTTACTTTGC	0.343																																						dbGAP											0																																										-	-	-	SO:0001623	5_prime_UTR_variant	0			AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000358350.4:c.-55T>C	4.37:g.48636482A>G			O95640|Q8WTZ5|Q9NT40	Silent	SNP	NULL	p.N74	ENST00000358350.4	37	c.222	CCDS43227.1	4																																																																																			FRYL	-	NULL	ENSG00000075539		0.343	FRYL-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FRYL	HGNC	protein_coding		101	0.00	0	A			48636482	48636482	-1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000505759	ensembl	human	novel	69_37n	silent	145	35.84	81	SNP	1.000	G
GPR97	222487	genome.wustl.edu	37	16	57714456	57714456	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0CT-01A-31W-A071-09	TCGA-A2-A0CT-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2b412ad8-abda-4cf8-8f68-59dbce80031e	b34c4ee7-2776-40c7-9b34-b53e5674aab8	g.chr16:57714456C>T	ENST00000333493.4	+	8	969	c.808C>T	c.(808-810)Cgc>Tgc	p.R270C	GPR97_ENST00000450388.3_Missense_Mutation_p.R150C|GPR97_ENST00000327655.6_Missense_Mutation_p.R60C|RP11-405F3.4_ENST00000563062.1_RNA	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97	270					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R270C(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TATCCTCACACGCATCTCCCA	0.577																																						dbGAP											1	Substitution - Missense(1)	breast(1)											148.0	128.0	134.0					16																	57714456		2198	4300	6498	-	-	-	SO:0001583	missense	0			AY140959	CCDS10786.1	16q13	2014-08-08			ENSG00000182885	ENSG00000182885		"""-"", ""GPCR / Class B : Orphans"""	13728	protein-coding gene	gene with protein product						12435584, 222487	Standard	NM_170776		Approved	Pb99, PGR26	uc002emh.3	Q86Y34	OTTHUMG00000133458	ENST00000333493.4:c.808C>T	16.37:g.57714456C>T	ENSP00000332900:p.Arg270Cys		Q6ZMF4|Q86SL9|Q8IZF1	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_orphan_rcpt_GPR56	p.R270C	ENST00000333493.4	37	c.808	CCDS10786.1	16	.	.	.	.	.	.	.	.	.	.	c	15.58	2.876978	0.51801	.	.	ENSG00000182885	ENST00000333493;ENST00000327655;ENST00000450388	T;T;T	0.43294	0.95;0.95;0.95	5.26	4.31	0.51392	GPCR, family 2-like (1);	0.908438	0.09421	N	0.804425	T	0.56016	0.1957	M	0.62723	1.935	0.09310	N	0.999992	D	0.71674	0.998	P	0.57846	0.828	T	0.40646	-0.9552	10	0.51188	T	0.08	.	9.8686	0.41160	0.0:0.9057:0.0:0.0943	.	270	Q86Y34	GPR97_HUMAN	C	270;60;150	ENSP00000332900:R270C;ENSP00000331199:R60C;ENSP00000404803:R150C	ENSP00000331199:R60C	R	+	1	0	GPR97	56271957	0.000000	0.05858	0.291000	0.24904	0.727000	0.41649	0.786000	0.26844	1.231000	0.43661	0.586000	0.80456	CGC	GPR97	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	ENSG00000182885		0.577	GPR97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR97	HGNC	protein_coding	OTTHUMT00000257333.2	23	0.00	0	C	NM_170776		57714456	57714456	+1	no_errors	ENST00000333493	ensembl	human	known	69_37n	missense	1	92.86	13	SNP	0.144	T
GRK4	2868	genome.wustl.edu	37	4	3039136	3039136	+	Missense_Mutation	SNP	C	C	G			TCGA-A2-A0CT-01A-31W-A071-09	TCGA-A2-A0CT-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2b412ad8-abda-4cf8-8f68-59dbce80031e	b34c4ee7-2776-40c7-9b34-b53e5674aab8	g.chr4:3039136C>G	ENST00000398052.4	+	14	1786	c.1443C>G	c.(1441-1443)atC>atG	p.I481M	GRK4_ENST00000509545.1_3'UTR|GRK4_ENST00000398051.4_Missense_Mutation_p.I449M|GRK4_ENST00000504933.1_Missense_Mutation_p.I481M|GRK4_ENST00000345167.6_Missense_Mutation_p.I449M	NM_182982.2	NP_892027.2	P32298	GRK4_HUMAN	G protein-coupled receptor kinase 4	481	AGC-kinase C-terminal.				G-protein coupled receptor internalization (GO:0002031)|receptor internalization (GO:0031623)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)	p.I481M(1)		lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TCCTGGATATCGAGCAGTTCT	0.537											OREG0016045	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											1	Substitution - Missense(1)	breast(1)											240.0	232.0	234.0					4																	3039136		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33946.1, CCDS33947.1, CCDS47002.1, CCDS68656.1	4p16.3	2008-02-05	2004-02-04	2004-02-06	ENSG00000125388	ENSG00000125388			4543	protein-coding gene	gene with protein product		137026	"""G protein-coupled receptor kinase 2-like (Drosophila)"""	GPRK2L		1338872	Standard	NM_182982		Approved	GPRK4	uc003ggn.1	P32298	OTTHUMG00000159914	ENST00000398052.4:c.1443C>G	4.37:g.3039136C>G	ENSP00000381129:p.Ile481Met	608	O00641|O00642|Q13293|Q13294|Q13295|Q14453|Q14725|Q15313|Q15314|Q15315|Q15316|Q17RH6|Q53EQ8	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Regulat_G_prot_signal,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal,pfscan_Prot_kinase_cat_dom,prints_GPCR_kinase	p.I481M	ENST00000398052.4	37	c.1443	CCDS33946.1	4	.	.	.	.	.	.	.	.	.	.	C	9.161	1.018777	0.19355	.	.	ENSG00000125388	ENST00000398051;ENST00000398052;ENST00000345167;ENST00000504933	T;T;T;T	0.25250	1.81;1.81;1.81;1.81	4.92	-7.09	0.01553	AGC-kinase, C-terminal (2);	0.000000	0.85682	U	0.000000	T	0.47801	0.1465	M	0.91354	3.2	0.80722	D	1	D;D;D;D	0.89917	1.0;0.961;0.997;0.995	D;P;D;P	0.74674	0.984;0.814;0.911;0.87	T	0.60835	-0.7184	10	0.87932	D	0	-26.1537	9.394	0.38390	0.1796:0.1475:0.0:0.6729	.	449;449;481;481	P32298-3;P32298-2;P32298-4;P32298	.;.;.;GRK4_HUMAN	M	449;481;449;481	ENSP00000381128:I449M;ENSP00000381129:I481M;ENSP00000264764:I449M;ENSP00000427445:I481M	ENSP00000264764:I449M	I	+	3	3	GRK4	3008934	0.001000	0.12720	0.000000	0.03702	0.006000	0.05464	-2.105000	0.01339	-1.910000	0.01083	-1.337000	0.01257	ATC	GRK4	-	smart_AGC-kinase_C,prints_GPCR_kinase	ENSG00000125388		0.537	GRK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRK4	HGNC	protein_coding	OTTHUMT00000358176.2	153	0.00	0	C	NM_005307		3039136	3039136	+1	no_errors	ENST00000398052	ensembl	human	known	69_37n	missense	100	49.24	97	SNP	0.198	G
HCFC1	3054	genome.wustl.edu	37	X	153219586	153219587	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A2-A0CT-01A-31W-A071-09	TCGA-A2-A0CT-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2b412ad8-abda-4cf8-8f68-59dbce80031e	b34c4ee7-2776-40c7-9b34-b53e5674aab8	g.chrX:153219586_153219587insG	ENST00000310441.7	-	17	5229_5230	c.4263_4264insC	c.(4261-4266)ccctgtfs	p.C1422fs	HCFC1_ENST00000354233.3_Frame_Shift_Ins_p.C1353fs|HCFC1_ENST00000369984.4_Frame_Shift_Ins_p.C1422fs	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	1422					cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGGGTCTCACAGGGGGGGTTGG	0.629																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"""VP16-accessory protein"", ""protein phosphatase 1, regulatory subunit 89"""	300019	"""mental retardation, X-linked 3"", ""host cell factor C1 (VP16-accessory protein)"""	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.4264dupC	X.37:g.153219593_153219593dupG	ENSP00000309555:p.Cys1422fs		Q6P4G5	Frame_Shift_Ins	INS	pfam_Kelch_2,pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3	p.C1421fs	ENST00000310441.7	37	c.4264_4263	CCDS44020.1	X																																																																																			HCFC1	-	NULL	ENSG00000172534		0.629	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCFC1	HGNC	protein_coding	OTTHUMT00000061099.4	13	0.00	0	-	NM_005334		153219586	153219587	-1	no_errors	ENST00000310441	ensembl	human	known	69_37n	frame_shift_ins	3	40.00	2	INS	1.000:0.875	G
HCN4	10021	genome.wustl.edu	37	15	73621931	73621931	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0CT-01A-31W-A071-09	TCGA-A2-A0CT-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2b412ad8-abda-4cf8-8f68-59dbce80031e	b34c4ee7-2776-40c7-9b34-b53e5674aab8	g.chr15:73621931G>A	ENST00000261917.3	-	4	2566	c.1573C>T	c.(1573-1575)Cgc>Tgc	p.R525C		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	525					blood circulation (GO:0008015)|cation transport (GO:0006812)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)	cAMP binding (GO:0030552)|cation channel activity (GO:0005261)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.R525C(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		TGGTACTGGCGCCGGGAGGAG	0.637																																						dbGAP											1	Substitution - Missense(1)	breast(1)											61.0	57.0	58.0					15																	73621931		2198	4297	6495	-	-	-	SO:0001583	missense	0			AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	16882	protein-coding gene	gene with protein product		605206				10228147, 10430953, 16382102	Standard	NM_005477		Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.1573C>T	15.37:g.73621931G>A	ENSP00000261917:p.Arg525Cys		Q9UMQ7	Missense_Mutation	SNP	pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,pfscan_cNMP-bd_dom	p.R525C	ENST00000261917.3	37	c.1573	CCDS10248.1	15	.	.	.	.	.	.	.	.	.	.	G	15.52	2.857075	0.51376	.	.	ENSG00000138622	ENST00000261917	D	0.96830	-4.14	4.2	4.2	0.49525	Cyclic nucleotide-binding-like (1);	.	.	.	.	D	0.98108	0.9376	M	0.85462	2.755	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.99136	1.0854	9	0.66056	D	0.02	.	16.5316	0.84362	0.0:0.0:1.0:0.0	.	525	Q9Y3Q4	HCN4_HUMAN	C	525	ENSP00000261917:R525C	ENSP00000261917:R525C	R	-	1	0	HCN4	71408984	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.643000	0.61390	2.044000	0.60594	0.561000	0.74099	CGC	HCN4	-	superfamily_cNMP-bd-like	ENSG00000138622		0.637	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCN4	HGNC	protein_coding	OTTHUMT00000268900.2	46	0.00	0	G	NM_005477		73621931	73621931	-1	no_errors	ENST00000261917	ensembl	human	known	69_37n	missense	10	76.74	33	SNP	1.000	A
IL17RC	84818	genome.wustl.edu	37	3	9974335	9974335	+	Silent	SNP	C	C	T			TCGA-A2-A0CT-01A-31W-A071-09	TCGA-A2-A0CT-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2b412ad8-abda-4cf8-8f68-59dbce80031e	b34c4ee7-2776-40c7-9b34-b53e5674aab8	g.chr3:9974335C>T	ENST00000295981.3	+	17	1862	c.1644C>T	c.(1642-1644)ctC>ctT	p.L548L	CRELD1_ENST00000397170.3_5'Flank|CRELD1_ENST00000452070.1_5'Flank|CRELD1_ENST00000326434.5_5'Flank|CRELD1_ENST00000383811.3_5'Flank|IL17RC_ENST00000413608.1_Silent_p.L477L|IL17RC_ENST00000383812.4_Silent_p.L462L|IL17RC_ENST00000416074.2_Silent_p.L316L|IL17RC_ENST00000498214.1_3'UTR|IL17RC_ENST00000455057.1_Silent_p.L445L|IL17RC_ENST00000403601.3_Silent_p.L477L	NM_153461.3	NP_703191	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C	548					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-17 receptor activity (GO:0030368)	p.L548L(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CCTGCCTACTCTTTGCCGCTG	0.577											OREG0015383	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											1	Substitution - coding silent(1)	breast(1)											73.0	78.0	76.0					3																	9974335		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC006411	CCDS2590.1, CCDS2591.2, CCDS46746.1, CCDS56240.1, CCDS56241.1, CCDS74898.1	3p25.3	2008-02-05			ENSG00000163702	ENSG00000163702		"""Interleukins and interleukin receptors"""	18358	protein-coding gene	gene with protein product		610925				11706037	Standard	NM_153460		Approved	IL17-RL	uc003bua.3	Q8NAC3	OTTHUMG00000128648	ENST00000295981.3:c.1644C>T	3.37:g.9974335C>T		661	E9PHG1|E9PHJ6|Q6UVY3|Q6UWD4|Q8NFS1|Q9BR97	Silent	SNP	pfam_SEFIR	p.L548	ENST00000295981.3	37	c.1644	CCDS2590.1	3																																																																																			IL17RC	-	NULL	ENSG00000163702		0.577	IL17RC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IL17RC	HGNC	protein_coding	OTTHUMT00000250526.2	36	0.00	0	C	NM_032732		9974335	9974335	+1	no_errors	ENST00000295981	ensembl	human	known	69_37n	silent	53	35.37	29	SNP	0.016	T
INPP5F	22876	genome.wustl.edu	37	10	121583335	121583335	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A2-A0CT-01A-31W-A071-09	TCGA-A2-A0CT-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2b412ad8-abda-4cf8-8f68-59dbce80031e	b34c4ee7-2776-40c7-9b34-b53e5674aab8	g.chr10:121583335C>T	ENST00000361976.2	+	19	2336	c.2170C>T	c.(2170-2172)Cag>Tag	p.Q724*	INPP5F_ENST00000369080.3_Nonsense_Mutation_p.Q114*|INPP5F_ENST00000490818.1_3'UTR	NM_014937.3	NP_055752.1	Q01968	OCRL_HUMAN	inositol polyphosphate-5-phosphatase F	0	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)	p.Q724*(1)		breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		AGATACCCTTCAGTGCATTGC	0.403																																						dbGAP											1	Substitution - Nonsense(1)	breast(1)											82.0	83.0	82.0					10																	121583335		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB023183	CCDS7616.1, CCDS58098.1	10q26.13	2009-02-03			ENSG00000198825	ENSG00000198825			17054	protein-coding gene	gene with protein product		609389				10231032, 11274189	Standard	NM_014937		Approved	SAC2, KIAA0966, hSac2	uc001leo.3	Q9Y2H2	OTTHUMG00000019158	ENST00000361976.2:c.2170C>T	10.37:g.121583335C>T	ENSP00000354519:p.Gln724*		A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Nonsense_Mutation	SNP	pfam_Syja_N,pfam_Inositol_phosphatase,pfscan_Syja_N	p.Q724*	ENST00000361976.2	37	c.2170	CCDS7616.1	10	.	.	.	.	.	.	.	.	.	.	C	40	8.335713	0.98764	.	.	ENSG00000198825	ENST00000361976;ENST00000369080	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.7633	20.3789	0.98926	0.0:1.0:0.0:0.0	.	.	.	.	X	724;114	.	ENSP00000354519:Q724X	Q	+	1	0	INPP5F	121573325	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.698000	0.84413	2.826000	0.97356	0.563000	0.77884	CAG	INPP5F	-	NULL	ENSG00000198825		0.403	INPP5F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INPP5F	HGNC	protein_coding	OTTHUMT00000050679.1	70	0.00	0	C	NM_014937		121583335	121583335	+1	no_errors	ENST00000361976	ensembl	human	known	69_37n	nonsense	38	52.50	42	SNP	1.000	T
ITK	3702	genome.wustl.edu	37	5	156638350	156638350	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0CT-01A-31W-A071-09	TCGA-A2-A0CT-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2b412ad8-abda-4cf8-8f68-59dbce80031e	b34c4ee7-2776-40c7-9b34-b53e5674aab8	g.chr5:156638350G>A	ENST00000422843.3	+	3	448	c.296G>A	c.(295-297)cGg>cAg	p.R99Q	CTB-4E7.1_ENST00000519375.1_RNA	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	99	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cellular defense response (GO:0006968)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|intracellular signal transduction (GO:0035556)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.R99Q(1)		breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		Pazopanib(DB06589)	CGTGAGAGCCGGCAGCGCTGG	0.488			T	SYK	peripheral T-cell lymphoma																																Esophageal Squamous(70;1378 1469 8785 19883)	dbGAP		Dom	yes		5	5q31-q32	3702	IL2-inducible T-cell kinase		L	1	Substitution - Missense(1)	breast(1)											116.0	109.0	111.0					5																	156638350		2203	4300	6503	-	-	-	SO:0001583	missense	0			D13720	CCDS4336.1	5q31-q32	2014-09-17			ENSG00000113263	ENSG00000113263		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	6171	protein-coding gene	gene with protein product		186973				8364206	Standard	NM_005546		Approved	EMT, PSCTK2, LYK	uc003lwo.1	Q08881	OTTHUMG00000130245	ENST00000422843.3:c.296G>A	5.37:g.156638350G>A	ENSP00000398655:p.Arg99Gln		B2R752|Q32ML7	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_Znf_Btk_motif,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.R99Q	ENST00000422843.3	37	c.296	CCDS4336.1	5	.	.	.	.	.	.	.	.	.	.	G	35	5.466046	0.96257	.	.	ENSG00000113263	ENST00000422843	T	0.77877	-1.13	5.8	5.8	0.92144	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.88377	0.6420	M	0.82132	2.575	0.54753	D	0.999988	D	0.76494	0.999	D	0.65233	0.933	D	0.89249	0.3589	10	0.87932	D	0	.	18.8345	0.92155	0.0:0.0:1.0:0.0	.	99	Q08881	ITK_HUMAN	Q	99	ENSP00000398655:R99Q	ENSP00000398655:R99Q	R	+	2	0	ITK	156570928	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.633000	0.83260	2.735000	0.93741	0.655000	0.94253	CGG	ITK	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000113263		0.488	ITK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITK	HGNC	protein_coding	OTTHUMT00000252569.2	74	0.00	0	G			156638350	156638350	+1	no_errors	ENST00000422843	ensembl	human	known	69_37n	missense	51	37.04	30	SNP	1.000	A
KCTD17	79734	genome.wustl.edu	37	22	37455388	37455388	+	Silent	SNP	C	C	T	rs577803443		TCGA-A2-A0CT-01A-31W-A071-09	TCGA-A2-A0CT-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2b412ad8-abda-4cf8-8f68-59dbce80031e	b34c4ee7-2776-40c7-9b34-b53e5674aab8	g.chr22:37455388C>T	ENST00000403888.3	+	5	544	c.543C>T	c.(541-543)agC>agT	p.S181S	KCTD17_ENST00000402077.3_Silent_p.S181S	NM_001282684.1	NP_001269613.1	Q8N5Z5	KCD17_HUMAN	potassium channel tetramerization domain containing 17	181					protein homooligomerization (GO:0051260)		identical protein binding (GO:0042802)	p.S174S(1)		NS(1)|breast(1)|endometrium(1)|lung(1)|prostate(1)	5						ACTACGGCAGCGAGGACCAGG	0.607													c|||	1	0.000199681	0.0008	0.0	5008	,	,		15451	0.0		0.0	False		,,,				2504	0.0					dbGAP											1	Substitution - coding silent(1)	breast(1)											101.0	91.0	95.0					22																	37455388		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC025403	CCDS13940.2, CCDS74854.1, CCDS74855.1	22q12.3	2013-06-20	2013-06-20		ENSG00000100379	ENSG00000100379			25705	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 17"""			12477932	Standard	XM_005261741		Approved	FLJ12242	uc011amv.2	Q8N5Z5	OTTHUMG00000150532	ENST00000403888.3:c.543C>T	22.37:g.37455388C>T			B0QYA9|B0QYB0|O95517	Missense_Mutation	SNP	pfam_T1-type_BTB,superfamily_BTB/POZ_fold	p.A136V	ENST00000403888.3	37	c.407		22	.	.	.	.	.	.	.	.	.	.	c	9.956	1.221539	0.22457	.	.	ENSG00000100379	ENST00000456470	.	.	.	4.31	-8.15	0.01065	.	.	.	.	.	T	0.35278	0.0926	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	T	0.40757	-0.9546	4	.	.	.	.	2.6948	0.05132	0.1926:0.1909:0.0963:0.5202	.	.	.	.	V	136	.	.	A	+	2	0	KCTD17	35785334	0.000000	0.05858	0.411000	0.26484	0.980000	0.70556	-2.043000	0.01413	-1.493000	0.01835	-0.213000	0.12676	GCG	KCTD17	-	NULL	ENSG00000100379		0.607	KCTD17-002	KNOWN	basic	protein_coding	KCTD17	HGNC	protein_coding	OTTHUMT00000318781.1	98	0.00	0	C	NM_024681		37455388	37455388	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000456470	ensembl	human	novel	69_37n	missense	84	22.02	24	SNP	0.132	T
KIAA1468	57614	genome.wustl.edu	37	18	59854856	59854856	+	Silent	SNP	C	C	A			TCGA-A2-A0CT-01A-31W-A071-09	TCGA-A2-A0CT-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2b412ad8-abda-4cf8-8f68-59dbce80031e	b34c4ee7-2776-40c7-9b34-b53e5674aab8	g.chr18:59854856C>A	ENST00000398130.2	+	1	350	c.118C>A	c.(118-120)Cgg>Agg	p.R40R	PIGN_ENST00000593225.1_5'Flank|PIGN_ENST00000357637.5_5'Flank|KIAA1468_ENST00000256858.6_Silent_p.R40R|PIGN_ENST00000400334.3_5'Flank	NM_020854.3	NP_065905.2	Q9P260	K1468_HUMAN	KIAA1468	40								p.R40R(1)		autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				GGCAGTACTTCGGCTGGGCGC	0.637																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											69.0	86.0	81.0					18																	59854856		2062	4185	6247	-	-	-	SO:0001819	synonymous_variant	0			BC011992	CCDS11979.2	18q21.33	2005-11-03			ENSG00000134444	ENSG00000134444			29289	protein-coding gene	gene with protein product						11973628	Standard	NM_020854		Approved	HsT885, HsT3308, FLJ33841	uc002lil.3	Q9P260	OTTHUMG00000132780	ENST00000398130.2:c.118C>A	18.37:g.59854856C>A				Silent	SNP	pfam_HEAT,superfamily_ARM-type_fold,smart_LisH_dimerisation,pfscan_HEAT_type_2,pfscan_LisH_dimerisation	p.R40	ENST00000398130.2	37	c.118	CCDS11979.2	18																																																																																			KIAA1468	-	NULL	ENSG00000134444		0.637	KIAA1468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1468	HGNC	protein_coding	OTTHUMT00000256187.1	21	0.00	0	C	NM_020854		59854856	59854856	+1	no_errors	ENST00000256858	ensembl	human	known	69_37n	silent	18	43.75	14	SNP	0.998	A
KIF11	3832	genome.wustl.edu	37	10	94393475	94393475	+	Missense_Mutation	SNP	G	G	T			TCGA-A2-A0CT-01A-31W-A071-09	TCGA-A2-A0CT-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2b412ad8-abda-4cf8-8f68-59dbce80031e	b34c4ee7-2776-40c7-9b34-b53e5674aab8	g.chr10:94393475G>T	ENST00000260731.3	+	14	1888	c.1798G>T	c.(1798-1800)Gtt>Ttt	p.V600F		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	600					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|chromosome segregation (GO:0007059)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|spindle assembly involved in mitosis (GO:0090307)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)	p.V600F(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GTCTACTCATGTTTCTCAGAT	0.328																																					Colon(47;212 1003 2764 4062 8431)	dbGAP											1	Substitution - Missense(1)	breast(1)											107.0	100.0	102.0					10																	94393475		2203	4296	6499	-	-	-	SO:0001583	missense	0			X85137	CCDS7422.1	10q24.1	2008-03-03	2003-01-09	2003-01-10	ENSG00000138160	ENSG00000138160		"""Kinesins"""	6388	protein-coding gene	gene with protein product		148760	"""kinesin-like 1"""	KNSL1		1505978, 8548803	Standard	NM_004523		Approved	Eg5, HKSP, TRIP5	uc001kic.3	P52732	OTTHUMG00000018761	ENST00000260731.3:c.1798G>T	10.37:g.94393475G>T	ENSP00000260731:p.Val600Phe		A0AV49|B2RMV3|Q15716|Q5VWX0	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.V600F	ENST00000260731.3	37	c.1798	CCDS7422.1	10	.	.	.	.	.	.	.	.	.	.	G	10.95	1.495393	0.26774	.	.	ENSG00000138160	ENST00000260731	T	0.64803	-0.12	5.97	0.929	0.19449	.	0.274070	0.34652	N	0.003790	T	0.52175	0.1718	L	0.32530	0.975	0.49483	D	0.999793	P	0.46784	0.884	P	0.51055	0.657	T	0.41627	-0.9498	10	0.18276	T	0.48	.	6.1034	0.20059	0.2715:0.1235:0.605:0.0	.	600	P52732	KIF11_HUMAN	F	600	ENSP00000260731:V600F	ENSP00000260731:V600F	V	+	1	0	KIF11	94383455	0.977000	0.34250	0.084000	0.20598	0.623000	0.37688	1.399000	0.34566	-0.074000	0.12820	-0.216000	0.12614	GTT	KIF11	-	NULL	ENSG00000138160		0.328	KIF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF11	HGNC	protein_coding	OTTHUMT00000049401.1	115	0.00	0	G	NM_004523		94393475	94393475	+1	no_errors	ENST00000260731	ensembl	human	known	69_37n	missense	86	26.50	31	SNP	0.331	T
KRT1	3848	genome.wustl.edu	37	12	53069105	53069105	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0CT-01A-31W-A071-09	TCGA-A2-A0CT-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2b412ad8-abda-4cf8-8f68-59dbce80031e	b34c4ee7-2776-40c7-9b34-b53e5674aab8	g.chr12:53069105C>T	ENST00000252244.3	-	9	1865	c.1807G>A	c.(1807-1809)Ggc>Agc	p.G603S		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	603	Gly/Ser-rich.|Tail.				complement activation, lectin pathway (GO:0001867)|establishment of skin barrier (GO:0061436)|fibrinolysis (GO:0042730)|negative regulation of inflammatory response (GO:0050728)|regulation of angiogenesis (GO:0045765)|response to oxidative stress (GO:0006979)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|structural molecule activity (GO:0005198)	p.G603S(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						CCGCCAGAGCCCCGgccgcca	0.697																																						dbGAP											1	Substitution - Missense(1)	breast(1)											15.0	22.0	20.0					12																	53069105		2091	4097	6188	-	-	-	SO:0001583	missense	0			X69725	CCDS8836.1	12q13.13	2014-06-05	2008-08-01		ENSG00000167768	ENSG00000167768		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6412	protein-coding gene	gene with protein product		139350	"""epidermolytic hyperkeratosis 1"""	EHK1		2461420, 2470667, 16831889	Standard	NM_006121		Approved	KRT1A	uc001sau.1	P04264	OTTHUMG00000169749	ENST00000252244.3:c.1807G>A	12.37:g.53069105C>T	ENSP00000252244:p.Gly603Ser		B2RA01|P85925|P86104|Q14720|Q6GSJ0|Q9H298	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.G603S	ENST00000252244.3	37	c.1807	CCDS8836.1	12	.	.	.	.	.	.	.	.	.	.	C	11.78	1.741730	0.30865	.	.	ENSG00000167768	ENST00000252244	D	0.95069	-3.6	3.57	1.03	0.20045	.	.	.	.	.	D	0.82861	0.5129	N	0.08118	0	0.09310	N	1	B	0.17038	0.02	B	0.11329	0.006	T	0.69394	-0.5157	9	0.02654	T	1	.	6.8788	0.24160	0.0:0.7252:0.0:0.2748	.	603	P04264	K2C1_HUMAN	S	603	ENSP00000252244:G603S	ENSP00000252244:G603S	G	-	1	0	KRT1	51355372	0.000000	0.05858	0.006000	0.13384	0.431000	0.31685	0.138000	0.16016	0.091000	0.17302	0.313000	0.20887	GGC	KRT1	-	NULL	ENSG00000167768		0.697	KRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT1	HGNC	protein_coding	OTTHUMT00000405706.1	76	0.00	0	C	NM_006121		53069105	53069105	-1	no_errors	ENST00000252244	ensembl	human	known	69_37n	missense	55	25.33	19	SNP	0.008	T
LARS	51520	genome.wustl.edu	37	5	145537087	145537087	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0CT-01A-31W-A071-09	TCGA-A2-A0CT-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2b412ad8-abda-4cf8-8f68-59dbce80031e	b34c4ee7-2776-40c7-9b34-b53e5674aab8	g.chr5:145537087C>T	ENST00000394434.2	-	10	1110	c.944G>A	c.(943-945)gGa>gAa	p.G315E	LARS_ENST00000274562.9_Missense_Mutation_p.G288E|LARS_ENST00000545646.1_Missense_Mutation_p.G269E|LARS_ENST00000510191.1_Missense_Mutation_p.G261E|LARS_ENST00000511505.1_5'UTR	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	315	Editing domain.				gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)	p.G315E(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	CGTCTCAAATCCAATGTACTT	0.433																																						dbGAP											1	Substitution - Missense(1)	breast(1)											105.0	91.0	95.0					5																	145537087		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF151026	CCDS34265.1	5q32	2012-10-02			ENSG00000133706	ENSG00000133706	6.1.1.4	"""Aminoacyl tRNA synthetases / Class I"""	6512	protein-coding gene	gene with protein product	"""leucine tRNA ligase 1, cytoplasmic"""	151350				6933703	Standard	NM_020117		Approved	HSPC192, FLJ10595, FLJ21788, LARS1, LEUS, RNTLS	uc003lnx.1	Q9P2J5	OTTHUMG00000163429	ENST00000394434.2:c.944G>A	5.37:g.145537087C>T	ENSP00000377954:p.Gly315Glu		A2RRR4|A7E266|B4DJ10|Q2TU79|Q9NSE1	Missense_Mutation	SNP	pfam_aa-tRNA-synth_Ia,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Cys-tRNA/MSH_ligase,tigrfam_Leu-tRNA-synth_Ia_arc/euk	p.G315E	ENST00000394434.2	37	c.944	CCDS34265.1	5	.	.	.	.	.	.	.	.	.	.	C	24.9	4.584934	0.86748	.	.	ENSG00000133706	ENST00000394434;ENST00000545646;ENST00000510191;ENST00000274562	T;T;T;T	0.75704	-0.96;-0.96;-0.96;-0.96	5.5	5.5	0.81552	Valyl/Leucyl/Isoleucyl-tRNA synthetase, class Ia, editing domain (2);Aminoacyl-tRNA synthetase, class Ia (1);	0.056392	0.64402	D	0.000002	T	0.73697	0.3620	N	0.11201	0.11	0.49582	D	0.999801	P;D;B	0.76494	0.912;0.999;0.072	D;D;P	0.79784	0.921;0.993;0.455	T	0.74940	-0.3493	10	0.36615	T	0.2	-13.9805	15.2881	0.73846	0.0:0.8604:0.1396:0.0	.	288;269;315	B4DER1;F5H698;Q9P2J5	.;.;SYLC_HUMAN	E	315;269;261;288	ENSP00000377954:G315E;ENSP00000437791:G269E;ENSP00000426005:G261E;ENSP00000274562:G288E	ENSP00000274562:G288E	G	-	2	0	LARS	145517280	1.000000	0.71417	0.991000	0.47740	0.916000	0.54674	5.303000	0.65738	2.756000	0.94617	0.655000	0.94253	GGA	LARS	-	pfam_aa-tRNA-synth_Ia,tigrfam_Leu-tRNA-synth_Ia_arc/euk	ENSG00000133706		0.433	LARS-001	KNOWN	basic|CCDS	protein_coding	LARS	HGNC	protein_coding	OTTHUMT00000373367.1	106	0.00	0	C	NM_020117		145537087	145537087	-1	no_errors	ENST00000394434	ensembl	human	known	69_37n	missense	86	38.57	54	SNP	0.995	T
LRRIQ3	127255	genome.wustl.edu	37	1	74507579	74507579	+	Missense_Mutation	SNP	C	C	A			TCGA-A2-A0CT-01A-31W-A071-09	TCGA-A2-A0CT-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2b412ad8-abda-4cf8-8f68-59dbce80031e	b34c4ee7-2776-40c7-9b34-b53e5674aab8	g.chr1:74507579C>A	ENST00000395089.1	-	6	1035	c.1036G>T	c.(1036-1038)Gat>Tat	p.D346Y	LRRIQ3_ENST00000354431.4_Missense_Mutation_p.D346Y			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	346								p.D346Y(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						AAACTGGTATCCAATTTTTCA	0.308																																						dbGAP											1	Substitution - Missense(1)	breast(1)											39.0	38.0	38.0					1																	74507579		1813	4056	5869	-	-	-	SO:0001583	missense	0			BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"""leucine rich repeat containing 44"""	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.1036G>T	1.37:g.74507579C>A	ENSP00000378524:p.Asp346Tyr		A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Missense_Mutation	SNP	pfscan_IQ_motif_EF-hand-BS	p.D346Y	ENST00000395089.1	37	c.1036	CCDS41350.1	1	.	.	.	.	.	.	.	.	.	.	C	14.80	2.643026	0.47153	.	.	ENSG00000162620	ENST00000395089;ENST00000354431	T;T	0.25414	1.8;1.8	5.62	3.69	0.42338	.	0.551331	0.15164	N	0.276988	T	0.19644	0.0472	L	0.29908	0.895	0.09310	N	1	D	0.76494	0.999	P	0.59056	0.851	T	0.07271	-1.0781	10	0.72032	D	0.01	.	12.771	0.57421	0.0:0.684:0.316:0.0	.	346	A6PVS8	LRIQ3_HUMAN	Y	346	ENSP00000378524:D346Y;ENSP00000346414:D346Y	ENSP00000346414:D346Y	D	-	1	0	LRRIQ3	74280167	0.006000	0.16342	0.004000	0.12327	0.019000	0.09904	1.073000	0.30691	0.802000	0.34089	0.650000	0.86243	GAT	LRRIQ3	-	NULL	ENSG00000162620		0.308	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LRRIQ3	HGNC	protein_coding	OTTHUMT00000316539.1	195	0.51	1	C	NM_145258		74507579	74507579	-1	no_errors	ENST00000354431	ensembl	human	known	69_37n	missense	102	47.45	93	SNP	0.013	A
LTBP2	4053	genome.wustl.edu	37	14	74972768	74972768	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0CT-01A-31W-A071-09	TCGA-A2-A0CT-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2b412ad8-abda-4cf8-8f68-59dbce80031e	b34c4ee7-2776-40c7-9b34-b53e5674aab8	g.chr14:74972768C>T	ENST00000261978.4	-	28	4546	c.4160G>A	c.(4159-4161)cGc>cAc	p.R1387H	LTBP2_ENST00000556690.1_Missense_Mutation_p.R1343H	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1387	EGF-like 16; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.R1387H(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CCCCCGTGGGCGGCAGTGCCC	0.622																																						dbGAP											1	Substitution - Missense(1)	breast(1)											72.0	71.0	71.0					14																	74972768		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"""Latent transforming growth factor, beta binding proteins"""	6715	protein-coding gene	gene with protein product		602091	"""chromosome 14 open reading frame 141"""	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.4160G>A	14.37:g.74972768C>T	ENSP00000261978:p.Arg1387His		Q99907|Q9NS51	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_TB_dom,pfam_EGF-like_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom	p.R1387H	ENST00000261978.4	37	c.4160	CCDS9831.1	14	.	.	.	.	.	.	.	.	.	.	C	9.530	1.110700	0.20714	.	.	ENSG00000119681	ENST00000261978;ENST00000556690	T;T	0.78816	-1.21;-1.21	4.82	3.0	0.34707	EGF-like calcium-binding (1);	0.000000	0.42821	D	0.000651	T	0.65933	0.2739	L	0.50333	1.59	0.26255	N	0.978667	B	0.17852	0.024	B	0.13407	0.009	T	0.48603	-0.9021	10	0.15499	T	0.54	.	6.4942	0.22133	0.0:0.6519:0.129:0.2191	.	1387	Q14767	LTBP2_HUMAN	H	1387;1343	ENSP00000261978:R1387H;ENSP00000451477:R1343H	ENSP00000261978:R1387H	R	-	2	0	LTBP2	74042521	0.988000	0.35896	0.837000	0.33122	0.960000	0.62799	1.000000	0.29770	0.636000	0.30508	0.555000	0.69702	CGC	LTBP2	-	smart_EGF-like_Ca-bd,smart_EGF-like	ENSG00000119681		0.622	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LTBP2	HGNC	protein_coding	OTTHUMT00000413595.1	52	0.00	0	C	NM_000428		74972768	74972768	-1	no_errors	ENST00000261978	ensembl	human	known	69_37n	missense	36	23.40	11	SNP	0.994	T
LYN	4067	genome.wustl.edu	37	8	56864664	56864664	+	Missense_Mutation	SNP	A	A	T			TCGA-A2-A0CT-01A-31W-A071-09	TCGA-A2-A0CT-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2b412ad8-abda-4cf8-8f68-59dbce80031e	b34c4ee7-2776-40c7-9b34-b53e5674aab8	g.chr8:56864664A>T	ENST00000519728.1	+	7	923	c.627A>T	c.(625-627)aaA>aaT	p.K209N	LYN_ENST00000520220.2_Missense_Mutation_p.K188N	NM_002350.3	NP_002341.1	P07948	LYN_HUMAN	LYN proto-oncogene, Src family tyrosine kinase	209	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to extracellular stimulus (GO:0031668)|cellular response to heat (GO:0034605)|cellular response to retinoic acid (GO:0071300)|cytokine secretion (GO:0050663)|dendritic cell differentiation (GO:0097028)|erythrocyte differentiation (GO:0030218)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|Fc receptor mediated stimulatory signaling pathway (GO:0002431)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|histamine secretion by mast cell (GO:0002553)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|leukocyte migration (GO:0050900)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of immune response (GO:0050777)|negative regulation of intracellular signal transduction (GO:1902532)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mast cell proliferation (GO:0070667)|negative regulation of myeloid leukocyte differentiation (GO:0002762)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|neuron projection development (GO:0031175)|oligodendrocyte development (GO:0014003)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060369)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oligodendrocyte progenitor proliferation (GO:0070447)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of stress-activated protein kinase signaling cascade (GO:0070304)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cytokine production (GO:0001817)|regulation of cytokine secretion (GO:0050707)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of erythrocyte differentiation (GO:0045646)|regulation of inflammatory response (GO:0050727)|regulation of mast cell activation (GO:0033003)|regulation of mast cell degranulation (GO:0043304)|regulation of monocyte chemotaxis (GO:0090025)|regulation of platelet aggregation (GO:0090330)|regulation of protein phosphorylation (GO:0001932)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to amino acid (GO:0043200)|response to axon injury (GO:0048678)|response to carbohydrate (GO:0009743)|response to drug (GO:0042493)|response to hormone (GO:0009725)|response to insulin (GO:0032868)|response to organic cyclic compound (GO:0014070)|response to sterol depletion (GO:0006991)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|T cell costimulation (GO:0031295)|tolerance induction to self antigen (GO:0002513)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integrin alpha2-beta1 complex (GO:0034666)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|mitochondrial crista (GO:0030061)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycosphingolipid binding (GO:0043208)|ion channel binding (GO:0044325)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)	p.K209N(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)		Bosutinib(DB06616)|Ponatinib(DB08901)	ACATGATTAAACATTACCAAA	0.313																																						dbGAP											1	Substitution - Missense(1)	breast(1)											74.0	74.0	74.0					8																	56864664		2203	4300	6503	-	-	-	SO:0001583	missense	0			M16038	CCDS6162.1, CCDS47859.1	8q13	2014-06-25	2014-06-25		ENSG00000254087	ENSG00000254087		"""SH2 domain containing"""	6735	protein-coding gene	gene with protein product		165120	"""v-yes-1 Yamaguchi sarcoma viral related oncogene homolog"""			3561390	Standard	NM_002350		Approved	JTK8	uc003xsk.4	P07948	OTTHUMG00000044345	ENST00000519728.1:c.627A>T	8.37:g.56864664A>T	ENSP00000428924:p.Lys209Asn		A0AVQ5	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain	p.K209N	ENST00000519728.1	37	c.627	CCDS6162.1	8	.	.	.	.	.	.	.	.	.	.	A	13.94	2.385887	0.42308	.	.	ENSG00000254087	ENST00000519728;ENST00000520220	T;T	0.24151	1.87;1.87	6.01	0.0365	0.14192	SH2 motif (5);	0.042381	0.85682	D	0.000000	T	0.19604	0.0471	L	0.33485	1.01	0.53688	D	0.999971	B;B	0.20052	0.041;0.022	B;B	0.27608	0.081;0.056	T	0.07849	-1.0751	10	0.48119	T	0.1	.	11.8119	0.52188	0.5057:0.0:0.4943:0.0	.	279;209	Q6NUK7;P07948	.;LYN_HUMAN	N	209;188	ENSP00000428924:K209N;ENSP00000428424:K188N	ENSP00000428924:K209N	K	+	3	2	LYN	57027218	0.696000	0.27757	0.993000	0.49108	0.957000	0.61999	-0.171000	0.09883	-0.064000	0.13043	-0.248000	0.11899	AAA	LYN	-	pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2	ENSG00000254087		0.313	LYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LYN	HGNC	protein_coding	OTTHUMT00000378155.1	122	0.00	0	A	NM_002350		56864664	56864664	+1	no_errors	ENST00000519728	ensembl	human	known	69_37n	missense	244	27.16	91	SNP	0.913	T
LYST	1130	genome.wustl.edu	37	1	235969153	235969153	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0CT-01A-31W-A071-09	TCGA-A2-A0CT-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2b412ad8-abda-4cf8-8f68-59dbce80031e	b34c4ee7-2776-40c7-9b34-b53e5674aab8	g.chr1:235969153C>T	ENST00000389794.3	-	6	3457	c.3283G>A	c.(3283-3285)Gaa>Aaa	p.E1095K	LYST_ENST00000389793.2_Missense_Mutation_p.E1095K|LYST_ENST00000536965.1_Missense_Mutation_p.E1095K			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1095					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)		p.E1095K(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GTCTCACTTTCTTGACTTGTA	0.408																																						dbGAP											1	Substitution - Missense(1)	breast(1)											81.0	80.0	80.0					1																	235969153		2203	4300	6503	-	-	-	SO:0001583	missense	0			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.3283G>A	1.37:g.235969153C>T	ENSP00000374444:p.Glu1095Lys		O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E1095K	ENST00000389794.3	37	c.3283	CCDS31062.1	1	.	.	.	.	.	.	.	.	.	.	C	16.59	3.165097	0.57476	.	.	ENSG00000143669	ENST00000389794;ENST00000389793;ENST00000536965	T;T;T	0.66995	-0.24;-0.24;0.86	5.65	4.73	0.59995	.	0.216479	0.47455	D	0.000237	T	0.69405	0.3107	M	0.64997	1.995	0.42441	D	0.992717	P;P	0.43477	0.808;0.485	B;B	0.43990	0.438;0.219	T	0.74038	-0.3793	10	0.62326	D	0.03	.	16.8818	0.86065	0.0:0.8721:0.1279:0.0	.	1095;1095	Q99698-3;Q99698	.;LYST_HUMAN	K	1095	ENSP00000374444:E1095K;ENSP00000374443:E1095K;ENSP00000438315:E1095K	ENSP00000374443:E1095K	E	-	1	0	LYST	234035776	1.000000	0.71417	0.268000	0.24571	0.515000	0.34225	3.787000	0.55439	1.360000	0.45960	0.563000	0.77884	GAA	LYST	-	superfamily_ARM-type_fold	ENSG00000143669		0.408	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYST	HGNC	protein_coding	OTTHUMT00000097533.5	123	0.00	0	C			235969153	235969153	-1	no_errors	ENST00000389793	ensembl	human	known	69_37n	missense	107	33.33	54	SNP	0.998	T
MARS2	92935	genome.wustl.edu	37	2	198570580	198570581	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A2-A0CT-01A-31W-A071-09	TCGA-A2-A0CT-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2b412ad8-abda-4cf8-8f68-59dbce80031e	b34c4ee7-2776-40c7-9b34-b53e5674aab8	g.chr2:198570580_198570581insG	ENST00000282276.6	+	1	494_495	c.451_452insG	c.(451-453)tggfs	p.W151fs	AC011997.1_ENST00000409845.1_Intron	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN	methionyl-tRNA synthetase 2, mitochondrial	151					cell death (GO:0008219)|gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	GCAGCACTTCTGGGGGGTGCTT	0.609																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BC009115	CCDS33358.1	2q33.1	2014-01-30	2007-02-26		ENSG00000247626	ENSG00000247626	6.1.1.10	"""Aminoacyl tRNA synthetases / Class I"""	25133	protein-coding gene	gene with protein product	"""methionine tRNA ligase 2, mitochondrial"""	609728				15274629	Standard	NM_138395		Approved	mtMetRS, SPAX3	uc002uuq.3	Q96GW9	OTTHUMG00000154487	ENST00000282276.6:c.457dupG	2.37:g.198570586_198570586dupG	ENSP00000282276:p.Trp151fs		A0AVC3|Q76E79|Q8IW62|Q8N7N4	Frame_Shift_Ins	INS	pfam_Methionyl/Leucyl_tRNA_Synth,pfam_aa-tRNA-synth_Ia,pfam_Cys-tRNA/MSH_ligase,superfamily_tRNAsynth_1a_anticodon-bd,prints_Met-tRNA_synth,tigrfam_Met-tRNA_synth	p.V153fs	ENST00000282276.6	37	c.451_452	CCDS33358.1	2																																																																																			MARS2	-	pfam_Methionyl/Leucyl_tRNA_Synth,tigrfam_Met-tRNA_synth	ENSG00000247626		0.609	MARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARS2	HGNC	protein_coding	OTTHUMT00000335477.1	26	0.00	0	-	NM_138395		198570580	198570581	+1	no_errors	ENST00000282276	ensembl	human	known	69_37n	frame_shift_ins	24	11.11	3	INS	1.000:1.000	G
KMT2D	8085	genome.wustl.edu	37	12	49427728	49427728	+	Missense_Mutation	SNP	T	T	A			TCGA-A2-A0CT-01A-31W-A071-09	TCGA-A2-A0CT-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2b412ad8-abda-4cf8-8f68-59dbce80031e	b34c4ee7-2776-40c7-9b34-b53e5674aab8	g.chr12:49427728T>A	ENST00000301067.7	-	39	10759	c.10760A>T	c.(10759-10761)gAg>gTg	p.E3587V	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3587	Gln-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.E3317V(1)|p.E3587V(1)									ATTAGTGTGCTCCTTCTGCTG	0.577																																						dbGAP											2	Substitution - Missense(2)	breast(2)											17.0	15.0	16.0					12																	49427728		2167	4238	6405	-	-	-	SO:0001583	missense	0			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.10760A>T	12.37:g.49427728T>A	ENSP00000301067:p.Glu3587Val		O14687	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.E3587V	ENST00000301067.7	37	c.10760	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	T	12.19	1.865049	0.32977	.	.	ENSG00000167548	ENST00000301067	T	0.47869	0.83	5.38	5.38	0.77491	.	0.000000	0.37178	N	0.002205	T	0.56572	0.1994	L	0.27053	0.805	0.53688	D	0.999975	D	0.89917	1.0	D	0.85130	0.997	T	0.61426	-0.7065	10	0.87932	D	0	.	14.6888	0.69068	0.0:0.0:0.0:1.0	.	3587	O14686	MLL2_HUMAN	V	3587	ENSP00000301067:E3587V	ENSP00000301067:E3587V	E	-	2	0	MLL2	47713995	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.920000	0.87521	2.189000	0.69895	0.460000	0.39030	GAG	MLL2	-	NULL	ENSG00000167548		0.577	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL2	HGNC	protein_coding	OTTHUMT00000390183.2	30	0.00	0	T			49427728	49427728	-1	no_errors	ENST00000301067	ensembl	human	known	69_37n	missense	10	57.69	15	SNP	1.000	A
MCRS1	10445	genome.wustl.edu	37	12	49953743	49953743	+	Missense_Mutation	SNP	G	G	C			TCGA-A2-A0CT-01A-31W-A071-09	TCGA-A2-A0CT-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2b412ad8-abda-4cf8-8f68-59dbce80031e	b34c4ee7-2776-40c7-9b34-b53e5674aab8	g.chr12:49953743G>C	ENST00000550165.1	-	11	1155	c.889C>G	c.(889-891)Cga>Gga	p.R297G	MCRS1_ENST00000547182.1_5'UTR|MCRS1_ENST00000343810.4_Missense_Mutation_p.R297G|MCRS1_ENST00000357123.4_Missense_Mutation_p.R310G|MCRS1_ENST00000546244.1_Missense_Mutation_p.R106G			Q96EZ8	MCRS1_HUMAN	microspherule protein 1	297					cellular protein modification process (GO:0006464)|chromatin organization (GO:0006325)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|Ino80 complex (GO:0031011)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.R310G(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)	23						ACCTCATCTCGCATGTCCCTG	0.542																																						dbGAP											1	Substitution - Missense(1)	breast(1)											105.0	90.0	95.0					12																	49953743		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC011794	CCDS8787.1, CCDS31795.1, CCDS61118.1	12q13.12	2011-07-06				ENSG00000187778		"""INO80 complex subunits"""	6960	protein-coding gene	gene with protein product	"""INO80 complex subunit Q"""	609504				9765390, 9654073	Standard	NM_006337		Approved	ICP22BP, MSP58, P78, MCRS2, INO80Q	uc001rui.1	Q96EZ8		ENST00000550165.1:c.889C>G	12.37:g.49953743G>C	ENSP00000448056:p.Arg297Gly		O14742|O75497|Q6VN53|Q7Z372	Missense_Mutation	SNP	pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.R310G	ENST00000550165.1	37	c.928	CCDS8787.1	12	.	.	.	.	.	.	.	.	.	.	G	14.84	2.656005	0.47467	.	.	ENSG00000187778	ENST00000551598;ENST00000546244;ENST00000343810;ENST00000550165;ENST00000357123;ENST00000553173	.	.	.	5.85	3.9	0.45041	.	0.000000	0.85682	D	0.000000	T	0.64427	0.2597	M	0.71036	2.16	0.58432	D	0.999999	B;B	0.33238	0.116;0.403	B;B	0.39660	0.059;0.306	T	0.67122	-0.5750	9	0.52906	T	0.07	-2.5486	11.5052	0.50461	0.0:0.0:0.554:0.446	.	297;310	Q96EZ8;Q96EZ8-2	MCRS1_HUMAN;.	G	6;106;297;297;310;284	.	ENSP00000345358:R297G	R	-	1	2	MCRS1	48240010	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.258000	0.51507	1.448000	0.47680	0.655000	0.94253	CGA	MCRS1	-	NULL	ENSG00000187778		0.542	MCRS1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MCRS1	HGNC	protein_coding	OTTHUMT00000405102.1	46	0.00	0	G	NM_006337		49953743	49953743	-1	no_errors	ENST00000357123	ensembl	human	known	69_37n	missense	36	23.40	11	SNP	1.000	C
MYH10	4628	genome.wustl.edu	37	17	8384646	8384646	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0CT-01A-31W-A071-09	TCGA-A2-A0CT-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2b412ad8-abda-4cf8-8f68-59dbce80031e	b34c4ee7-2776-40c7-9b34-b53e5674aab8	g.chr17:8384646G>A	ENST00000269243.4	-	36	5303	c.5165C>T	c.(5164-5166)tCt>tTt	p.S1722F	MYH10_ENST00000360416.3_Missense_Mutation_p.S1753F|MYH10_ENST00000396239.1_Missense_Mutation_p.S1743F|MYH10_ENST00000379980.4_Missense_Mutation_p.S1738F	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1722					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.S1722F(1)		breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TCACTTGCCAGAGGCGCTGTT	0.642																																						dbGAP											1	Substitution - Missense(1)	breast(1)											112.0	99.0	104.0					17																	8384646		2203	4300	6503	-	-	-	SO:0001583	missense	0			M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.5165C>T	17.37:g.8384646G>A	ENSP00000269243:p.Ser1722Phe		B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.S1743F	ENST00000269243.4	37	c.5228	CCDS11144.1	17	.	.	.	.	.	.	.	.	.	.	G	14.56	2.571416	0.45798	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	D;T;T;T	0.83419	-1.72;-1.25;-1.25;-1.25	4.63	3.65	0.41850	Myosin tail (1);	0.055061	0.85682	D	0.000000	D	0.82375	0.5023	M	0.68952	2.095	0.58432	D	0.999992	B;B;B	0.20887	0.049;0.039;0.049	B;B;B	0.30105	0.111;0.067;0.111	T	0.81833	-0.0751	10	0.87932	D	0	.	13.1535	0.59503	0.0795:0.0:0.9205:0.0	.	1731;1753;1722	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	F	1722;1753;1743;1738	ENSP00000269243:S1722F;ENSP00000353590:S1753F;ENSP00000379539:S1743F;ENSP00000369315:S1738F	ENSP00000269243:S1722F	S	-	2	0	MYH10	8325371	1.000000	0.71417	0.996000	0.52242	0.388000	0.30384	5.139000	0.64801	1.286000	0.44565	0.655000	0.94253	TCT	MYH10	-	pfam_Myosin_tail	ENSG00000133026		0.642	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH10	HGNC	protein_coding	OTTHUMT00000227001.2	27	0.00	0	G			8384646	8384646	-1	no_errors	ENST00000396239	ensembl	human	known	69_37n	missense	30	18.92	7	SNP	1.000	A
MYH10	4628	genome.wustl.edu	37	17	8424562	8424562	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0CT-01A-31W-A071-09	TCGA-A2-A0CT-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2b412ad8-abda-4cf8-8f68-59dbce80031e	b34c4ee7-2776-40c7-9b34-b53e5674aab8	g.chr17:8424562C>T	ENST00000269243.4	-	16	2044	c.1906G>A	c.(1906-1908)Gag>Aag	p.E636K	MYH10_ENST00000360416.3_Missense_Mutation_p.E667K|MYH10_ENST00000396239.1_Missense_Mutation_p.E657K|MYH10_ENST00000379980.4_Missense_Mutation_p.E652K	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	636	Myosin motor.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.E636K(1)		breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						AAAGCTGTCTCAGTCATACCA	0.478																																						dbGAP											1	Substitution - Missense(1)	breast(1)											155.0	146.0	149.0					17																	8424562		2203	4300	6503	-	-	-	SO:0001583	missense	0			M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.1906G>A	17.37:g.8424562C>T	ENSP00000269243:p.Glu636Lys		B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E657K	ENST00000269243.4	37	c.1969	CCDS11144.1	17	.	.	.	.	.	.	.	.	.	.	C	37	6.340019	0.97489	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	T;T;D;T	0.86627	-0.6;-0.6;-2.15;-0.6	5.93	5.93	0.95920	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.88695	0.6506	L	0.37897	1.145	0.80722	D	1	P;P;P	0.48998	0.918;0.915;0.918	P;P;P	0.54629	0.68;0.757;0.68	D	0.85749	0.1342	10	0.29301	T	0.29	.	20.3539	0.98825	0.0:1.0:0.0:0.0	.	645;667;636	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	K	636;667;657;652	ENSP00000269243:E636K;ENSP00000353590:E667K;ENSP00000379539:E657K;ENSP00000369315:E652K	ENSP00000269243:E636K	E	-	1	0	MYH10	8365287	1.000000	0.71417	0.976000	0.42696	0.998000	0.95712	7.776000	0.85560	2.826000	0.97356	0.655000	0.94253	GAG	MYH10	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom	ENSG00000133026		0.478	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH10	HGNC	protein_coding	OTTHUMT00000227001.2	165	0.00	0	C			8424562	8424562	-1	no_errors	ENST00000396239	ensembl	human	known	69_37n	missense	224	32.94	111	SNP	1.000	T
MYH11	4629	genome.wustl.edu	37	16	15818522	15818522	+	Missense_Mutation	SNP	G	G	C			TCGA-A2-A0CT-01A-31W-A071-09	TCGA-A2-A0CT-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2b412ad8-abda-4cf8-8f68-59dbce80031e	b34c4ee7-2776-40c7-9b34-b53e5674aab8	g.chr16:15818522G>C	ENST00000300036.5	-	30	4207	c.4098C>G	c.(4096-4098)atC>atG	p.I1366M	MYH11_ENST00000452625.2_Missense_Mutation_p.I1373M|NDE1_ENST00000396354.1_3'UTR|NDE1_ENST00000342673.5_3'UTR|AF001548.5_ENST00000574212.1_RNA|NDE1_ENST00000571896.1_3'UTR|NDE1_ENST00000396355.1_3'UTR|MYH11_ENST00000396324.3_Missense_Mutation_p.I1373M|MYH11_ENST00000576790.2_Missense_Mutation_p.I1366M	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1366					axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)	p.I1366M(1)|p.I1373M(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						TGAGAGTGGAGATGTGGCGCT	0.617			T	CBFB	AML																																	dbGAP		Dom	yes		16	16p13.13-p13.12	4629	"""myosin, heavy polypeptide 11, smooth muscle"""		L	2	Substitution - Missense(2)	breast(2)											138.0	129.0	132.0					16																	15818522		2197	4300	6497	-	-	-	SO:0001583	missense	0			X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.4098C>G	16.37:g.15818522G>C	ENSP00000300036:p.Ile1366Met		D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.I1373M	ENST00000300036.5	37	c.4119	CCDS10565.1	16	.	.	.	.	.	.	.	.	.	.	G	11.24	1.581551	0.28180	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.27	4.29	0.51040	Myosin tail (1);	0.201590	0.43416	D	0.000573	T	0.64516	0.2605	N	0.20807	0.61	0.43476	D	0.995692	B;B;B;B;B	0.18968	0.032;0.004;0.004;0.004;0.004	B;B;B;B;B	0.35278	0.091;0.02;0.02;0.056;0.199	T	0.53301	-0.8458	10	0.14656	T	0.56	.	8.0271	0.30444	0.0877:0.0:0.7393:0.173	.	1373;1366;1373;1366;1373	B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	M	1366;1366;1373;1373;1373	ENSP00000300036:I1366M;ENSP00000345136:I1366M;ENSP00000379616:I1373M;ENSP00000407821:I1373M	ENSP00000300036:I1366M	I	-	3	3	MYH11	15726023	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	0.617000	0.24359	1.139000	0.42245	0.655000	0.94253	ATC	MYH11	-	pfam_Myosin_tail	ENSG00000133392		0.617	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH11	HGNC	protein_coding	OTTHUMT00000252192.2	140	0.00	0	G	NM_001040113		15818522	15818522	-1	no_errors	ENST00000396324	ensembl	human	known	69_37n	missense	74	47.52	67	SNP	1.000	C
NUDT5	11164	genome.wustl.edu	37	10	12215795	12215795	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0CT-01A-31W-A071-09	TCGA-A2-A0CT-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2b412ad8-abda-4cf8-8f68-59dbce80031e	b34c4ee7-2776-40c7-9b34-b53e5674aab8	g.chr10:12215795C>T	ENST00000491614.1	-	6	702	c.307G>A	c.(307-309)Gaa>Aaa	p.E103K	NUDT5_ENST00000378937.3_Missense_Mutation_p.E116K|NUDT5_ENST00000378952.3_5'UTR|NUDT5_ENST00000378940.3_Missense_Mutation_p.E103K|NUDT5_ENST00000378927.3_Missense_Mutation_p.E103K|NUDT5_ENST00000537776.1_Missense_Mutation_p.E103K			Q9UKK9	NUDT5_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 5	103	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				D-ribose catabolic process (GO:0019303)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|ribonucleoside diphosphate catabolic process (GO:0009191)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	ADP-ribose diphosphatase activity (GO:0047631)|ADP-sugar diphosphatase activity (GO:0019144)|magnesium ion binding (GO:0000287)|nucleoside-diphosphatase activity (GO:0017110)|snoRNA binding (GO:0030515)	p.E103K(1)		breast(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)	8		Renal(717;0.228)				TCTGGGGTTTCACCATCATCT	0.453																																						dbGAP											1	Substitution - Missense(1)	breast(1)											153.0	158.0	157.0					10																	12215795		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF155832	CCDS7089.1	10p14	2008-05-14			ENSG00000165609	ENSG00000165609		"""Nudix motif containing"""	8052	protein-coding gene	gene with protein product		609230				10373642	Standard	NM_014142		Approved	hYSAH1, YSA1H	uc001ilj.3	Q9UKK9	OTTHUMG00000017682	ENST00000491614.1:c.307G>A	10.37:g.12215795C>T	ENSP00000419628:p.Glu103Lys		A8K516|Q6IAG0|Q9UH49	Missense_Mutation	SNP	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,prints_Nudix_hydrolase	p.E116K	ENST00000491614.1	37	c.346	CCDS7089.1	10	.	.	.	.	.	.	.	.	.	.	C	21.5	4.163622	0.78226	.	.	ENSG00000165609	ENST00000491614;ENST00000378929;ENST00000378937;ENST00000537776;ENST00000378940;ENST00000378927	T;T;T;T;T	0.72282	-0.64;-0.64;-0.64;-0.64;-0.64	5.76	5.76	0.90799	NUDIX hydrolase (1);NUDIX hydrolase domain (3);NUDIX hydrolase, conserved site (1);NUDIX hydrolase domain-like (1);	0.000000	0.85682	D	0.000000	D	0.90048	0.6892	H	0.96430	3.82	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.995	D	0.92213	0.5778	10	0.87932	D	0	-34.4156	20.3242	0.98691	0.0:1.0:0.0:0.0	.	103;103	A6NCQ0;Q9UKK9	.;NUDT5_HUMAN	K	103;103;116;103;103;103	ENSP00000419628:E103K;ENSP00000368219:E116K;ENSP00000445116:E103K;ENSP00000368222:E103K;ENSP00000368209:E103K	ENSP00000368209:E103K	E	-	1	0	NUDT5	12255801	1.000000	0.71417	0.808000	0.32385	0.201000	0.24016	6.507000	0.73717	2.882000	0.98803	0.655000	0.94253	GAA	NUDT5	-	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,prints_Nudix_hydrolase	ENSG00000165609		0.453	NUDT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUDT5	HGNC	protein_coding	OTTHUMT00000046811.1	191	0.00	0	C			12215795	12215795	-1	no_errors	ENST00000378937	ensembl	human	known	69_37n	missense	129	26.97	48	SNP	0.998	T
NXN	64359	genome.wustl.edu	37	17	729229	729229	+	Silent	SNP	C	C	T			TCGA-A2-A0CT-01A-31W-A071-09	TCGA-A2-A0CT-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2b412ad8-abda-4cf8-8f68-59dbce80031e	b34c4ee7-2776-40c7-9b34-b53e5674aab8	g.chr17:729229C>T	ENST00000336868.3	-	2	541	c.450G>A	c.(448-450)ggG>ggA	p.G150G	NXN_ENST00000537628.2_5'UTR|NXN_ENST00000575801.1_Silent_p.G42G|NXN_ENST00000577098.1_5'UTR	NM_022463.4	NP_071908.2	Q6DKJ4	NXN_HUMAN	nucleoredoxin	150					cardiovascular system development (GO:0072358)|cell differentiation (GO:0030154)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein-disulfide reductase activity (GO:0047134)|thioredoxin-disulfide reductase activity (GO:0004791)	p.G150G(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (25;0.0237)		TCACCAGCAGCCCGTTCCTGC	0.498																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											145.0	119.0	128.0					17																	729229		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS10998.1, CCDS56013.1	17p13	2007-08-10			ENSG00000167693	ENSG00000167693			18008	protein-coding gene	gene with protein product		612895					Standard	NM_022463		Approved	FLJ12614, NRX	uc002fsa.3	Q6DKJ4	OTTHUMG00000090307	ENST00000336868.3:c.450G>A	17.37:g.729229C>T			B4DXQ0|D3DTH2|Q3SWW6|Q6P3U6|Q7L4C6|Q9H9Q1	Missense_Mutation	SNP	pfam_AhpC/TSA,pfam_Redoxin,pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold	p.A5T	ENST00000336868.3	37	c.13	CCDS10998.1	17																																																																																			NXN	-	NULL	ENSG00000167693		0.498	NXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NXN	HGNC	protein_coding	OTTHUMT00000206669.1	34	0.00	0	C			729229	729229	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000571684	ensembl	human	putative	69_37n	missense	11	26.67	4	SNP	0.961	T
OR10A6	390093	genome.wustl.edu	37	11	7949711	7949711	+	Missense_Mutation	SNP	G	G	A	rs267603212		TCGA-A2-A0CT-01A-31W-A071-09	TCGA-A2-A0CT-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2b412ad8-abda-4cf8-8f68-59dbce80031e	b34c4ee7-2776-40c7-9b34-b53e5674aab8	g.chr11:7949711G>A	ENST00000309838.2	-	1	498	c.499C>T	c.(499-501)Ccc>Tcc	p.P167S		NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A, member 6	167						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P167S(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CCACAAAAGGGAAAACTAGAT	0.323																																						dbGAP											1	Substitution - Missense(1)	breast(1)											41.0	45.0	43.0					11																	7949711		2201	4295	6496	-	-	-	SO:0001583	missense	0			AB065515	CCDS31420.1	11p15.4	2012-08-09			ENSG00000175393	ENSG00000175393		"""GPCR / Class A : Olfactory receptors"""	15132	protein-coding gene	gene with protein product							Standard	NM_001004461		Approved		uc010rbh.2	Q8NH74	OTTHUMG00000165671	ENST00000309838.2:c.499C>T	11.37:g.7949711G>A	ENSP00000312470:p.Pro167Ser		Q6IF59	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.P167S	ENST00000309838.2	37	c.499	CCDS31420.1	11	.	.	.	.	.	.	.	.	.	.	G	10.23	1.291663	0.23564	.	.	ENSG00000175393	ENST00000309838	T	0.00164	8.64	4.41	2.52	0.30459	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43260	D	0.000583	T	0.00210	0.0006	L	0.28458	0.855	0.22305	N	0.99922	D	0.53745	0.962	P	0.60286	0.872	T	0.52873	-0.8517	10	0.45353	T	0.12	.	5.4197	0.16394	0.3177:0.0:0.6823:0.0	.	167	Q8NH74	O10A6_HUMAN	S	167	ENSP00000312470:P167S	ENSP00000312470:P167S	P	-	1	0	OR10A6	7906287	0.114000	0.22134	1.000000	0.80357	0.137000	0.21094	0.377000	0.20552	1.209000	0.43321	0.655000	0.94253	CCC	OR10A6	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam	ENSG00000175393		0.323	OR10A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10A6	HGNC	protein_coding	OTTHUMT00000385703.1	262	0.00	0	G	NM_001004461		7949711	7949711	-1	no_errors	ENST00000309838	ensembl	human	known	69_37n	missense	358	28.49	143	SNP	0.457	A
OR2Z1	284383	genome.wustl.edu	37	19	8841768	8841768	+	Silent	SNP	G	G	T			TCGA-A2-A0CT-01A-31W-A071-09	TCGA-A2-A0CT-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2b412ad8-abda-4cf8-8f68-59dbce80031e	b34c4ee7-2776-40c7-9b34-b53e5674aab8	g.chr19:8841768G>T	ENST00000324060.2	+	1	453	c.378G>T	c.(376-378)gtG>gtT	p.V126V		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	126						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V126V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ATGTTGCTGTGTGCCAGCCCC	0.542																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											150.0	115.0	127.0					19																	8841768		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AC008753	CCDS32895.1	19p13.2	2013-09-20	2002-11-13		ENSG00000181733	ENSG00000181733		"""GPCR / Class A : Olfactory receptors"""	15391	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily Z, member 2"""	OR2Z2			Standard	NM_001004699		Approved		uc010xkg.2	Q8NG97	OTTHUMG00000182195	ENST00000324060.2:c.378G>T	19.37:g.8841768G>T			B9EH50|Q6IFK0|Q96R25	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.V126	ENST00000324060.2	37	c.378	CCDS32895.1	19																																																																																			OR2Z1	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000181733		0.542	OR2Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2Z1	HGNC	protein_coding	OTTHUMT00000459954.1	146	0.00	0	G			8841768	8841768	+1	no_errors	ENST00000324060	ensembl	human	known	69_37n	silent	153	47.62	140	SNP	1.000	T
PCDHGB4	8641	genome.wustl.edu	37	5	140768708	140768708	+	Silent	SNP	C	C	T			TCGA-A2-A0CT-01A-31W-A071-09	TCGA-A2-A0CT-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2b412ad8-abda-4cf8-8f68-59dbce80031e	b34c4ee7-2776-40c7-9b34-b53e5674aab8	g.chr5:140768708C>T	ENST00000519479.1	+	1	1257	c.1257C>T	c.(1255-1257)acC>acT	p.T419T	PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4	419	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAATATAACCGTTACGGCAA	0.448																																						dbGAP											0													126.0	131.0	129.0					5																	140768708		1951	4146	6097	-	-	-	SO:0001819	synonymous_variant	0			AF152520	CCDS54928.1, CCDS75337.1	5q31	2010-01-26				ENSG00000253953		"""Cadherins / Protocadherins : Clustered"""	8711	other	protocadherin	"""fibroblast cadherin FIB2"", ""cadherin 20"""	603058				10380929	Standard	NM_003736		Approved	FIB2, CDH20, PCDH-GAMMA-B4		Q9UN71		ENST00000519479.1:c.1257C>T	5.37:g.140768708C>T			O15099|Q2M267|Q9UN64	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T419	ENST00000519479.1	37	c.1257	CCDS54928.1	5																																																																																			PCDHGB4	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000253953		0.448	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB4	HGNC	protein_coding	OTTHUMT00000374745.1	111	0.00	0	C	NM_003736		140768708	140768708	+1	no_errors	ENST00000519479	ensembl	human	known	69_37n	silent	98	39.51	64	SNP	0.002	T
RCBTB2	1102	genome.wustl.edu	37	13	49075943	49075943	+	Silent	SNP	A	A	T			TCGA-A2-A0CT-01A-31W-A071-09	TCGA-A2-A0CT-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2b412ad8-abda-4cf8-8f68-59dbce80031e	b34c4ee7-2776-40c7-9b34-b53e5674aab8	g.chr13:49075943A>T	ENST00000344532.3	-	12	1602	c.1179T>A	c.(1177-1179)acT>acA	p.T393T	RCBTB2_ENST00000544492.1_Silent_p.T119T|RCBTB2_ENST00000430805.2_Silent_p.T398T	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2	393					positive regulation of Ran GTPase activity (GO:0032853)	acrosomal vesicle (GO:0001669)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)	p.T393T(1)		breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		TCAGGTCTGCAGTGTCCGGGT	0.408																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											109.0	96.0	100.0					13																	49075943		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF060219	CCDS9411.1, CCDS73570.1, CCDS73571.1, CCDS73572.1	13q14.3	2013-01-08	2005-05-09	2005-05-09	ENSG00000136161	ENSG00000136161		"""BTB/POZ domain containing"""	1914	protein-coding gene	gene with protein product		603524	"""chromosome condensation 1-like"""	CHC1L		9806834	Standard	XM_005266242		Approved		uc001vch.3	O95199	OTTHUMG00000016902	ENST00000344532.3:c.1179T>A	13.37:g.49075943A>T			B2RDW8	Silent	SNP	pfam_Reg_chr_condens,pfam_BTB_POZ,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.T398	ENST00000344532.3	37	c.1194	CCDS9411.1	13																																																																																			RCBTB2	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold	ENSG00000136161		0.408	RCBTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RCBTB2	HGNC	protein_coding	OTTHUMT00000044888.2	57	0.00	0	A	NM_001268		49075943	49075943	-1	no_errors	ENST00000430805	ensembl	human	known	69_37n	silent	8	71.43	20	SNP	0.682	T
SERPINA10	51156	genome.wustl.edu	37	14	94756847	94756847	+	Silent	SNP	C	C	T			TCGA-A2-A0CT-01A-31W-A071-09	TCGA-A2-A0CT-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2b412ad8-abda-4cf8-8f68-59dbce80031e	b34c4ee7-2776-40c7-9b34-b53e5674aab8	g.chr14:94756847C>T	ENST00000393096.1	-	2	549	c.84G>A	c.(82-84)tcG>tcA	p.S28S	SERPINA10_ENST00000554723.1_Silent_p.S68S|SERPINA10_ENST00000554173.1_Silent_p.S28S|SERPINA10_ENST00000261994.4_Silent_p.S28S	NM_016186.2	NP_057270.1	Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	28					blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		GGGTCTCTGGCGACTGAGGAC	0.642																																						dbGAP											0													25.0	27.0	26.0					14																	94756847		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF181467	CCDS9923.1	14q32.13	2014-02-18	2005-08-18		ENSG00000140093	ENSG00000140093		"""Serine (or cysteine) peptidase inhibitors"""	15996	protein-coding gene	gene with protein product		605271	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10"""			10460162, 9689066, 24172014	Standard	NM_016186		Approved	PZI, ZPI	uc001yct.3	Q9UK55	OTTHUMG00000171345	ENST00000393096.1:c.84G>A	14.37:g.94756847C>T			A5Z2A5|Q6UWX9|Q86U20	Silent	SNP	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	p.S28	ENST00000393096.1	37	c.84	CCDS9923.1	14																																																																																			SERPINA10	-	superfamily_Sepin_dom	ENSG00000140093		0.642	SERPINA10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINA10	HGNC	protein_coding	OTTHUMT00000413061.1	23	0.00	0	C	NM_016186		94756847	94756847	-1	no_errors	ENST00000261994	ensembl	human	known	69_37n	silent	5	76.19	16	SNP	0.000	T
SETX	23064	genome.wustl.edu	37	9	135140193	135140195	+	In_Frame_Del	DEL	ACC	ACC	-			TCGA-A2-A0CT-01A-31W-A071-09	TCGA-A2-A0CT-10A-01W-A071-09	ACC	ACC					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2b412ad8-abda-4cf8-8f68-59dbce80031e	b34c4ee7-2776-40c7-9b34-b53e5674aab8	g.chr9:135140193_135140195delACC	ENST00000224140.5	-	26	7647_7649	c.7465_7467delGGT	c.(7465-7467)ggtdel	p.G2489del	SETX_ENST00000372169.2_In_Frame_Del_p.G2518del|SETX_ENST00000393220.1_In_Frame_Del_p.G2456del|SETX_ENST00000477049.1_5'UTR	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	2489					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)	p.G2489delG(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TGCTGGGCAAACCACCCTGGGGT	0.502																																						dbGAP											1	Deletion - In frame(1)	breast(1)																																								-	-	-	SO:0001651	inframe_deletion	0			AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.7465_7467delGGT	9.37:g.135140196_135140198delACC	ENSP00000224140:p.Gly2489del		A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	In_Frame_Del	DEL	NULL	p.G2518in_frame_del	ENST00000224140.5	37	c.7554_7552	CCDS6947.1	9																																																																																			SETX	-	NULL	ENSG00000107290		0.502	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETX	HGNC	protein_coding	OTTHUMT00000054774.3	123	0.00	0	ACC	NM_015046		135140193	135140195	-1	no_errors	ENST00000372169	ensembl	human	known	69_37n	in_frame_del	106	33.74	55	DEL	0.051:0.066:0.043	-
SLC2A1	6513	genome.wustl.edu	37	1	43393369	43393369	+	Silent	SNP	G	G	A			TCGA-A2-A0CT-01A-31W-A071-09	TCGA-A2-A0CT-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2b412ad8-abda-4cf8-8f68-59dbce80031e	b34c4ee7-2776-40c7-9b34-b53e5674aab8	g.chr1:43393369G>A	ENST00000426263.3	-	9	1363	c.1185C>T	c.(1183-1185)ttC>ttT	p.F395F	SLC2A1_ENST00000475162.1_Intron	NM_006516.2	NP_006507.2	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 1	395					carbohydrate metabolic process (GO:0005975)|cellular response to glucose starvation (GO:0042149)|energy reserve metabolic process (GO:0006112)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|protein complex assembly (GO:0006461)|regulation of insulin secretion (GO:0050796)|response to osmotic stress (GO:0006970)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|caveola (GO:0005901)|cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|female pronucleus (GO:0001939)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|midbody (GO:0030496)|plasma membrane (GO:0005886)	D-glucose transmembrane transporter activity (GO:0055056)|dehydroascorbic acid transporter activity (GO:0033300)|glucose transmembrane transporter activity (GO:0005355)|identical protein binding (GO:0042802)|protein self-association (GO:0043621)|xenobiotic transporter activity (GO:0042910)	p.F395F(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	GACCCTGGCTGAAGAGTTCAG	0.542																																						dbGAP											1	Substitution - coding silent(1)	breast(1)	GRCh37	CD057264	SLC2A1	D							72.0	67.0	69.0					1																	43393369		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			K03195	CCDS477.1	1p34.2	2013-05-22			ENSG00000117394	ENSG00000117394		"""Solute carriers"""	11005	protein-coding gene	gene with protein product		138140	"""human T-cell leukemia virus (I and II) receptor"""	GLUT1, GLUT, HTLVR		8839927, 14622599, 18451999	Standard	NM_006516		Approved	DYT18	uc001cik.2	P11166	OTTHUMG00000007657	ENST00000426263.3:c.1185C>T	1.37:g.43393369G>A			A8K9S6|B2R620|D3DPX0|O75535|Q147X2	Silent	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,prints_Sugar/inositol_transpt,prints_Glu_transpt_1,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt	p.F395	ENST00000426263.3	37	c.1185	CCDS477.1	1																																																																																			SLC2A1	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,prints_Sugar/inositol_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt	ENSG00000117394		0.542	SLC2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC2A1	HGNC	protein_coding	OTTHUMT00000020358.2	25	0.00	0	G	NM_006516		43393369	43393369	-1	no_errors	ENST00000426263	ensembl	human	known	69_37n	silent	14	33.33	7	SNP	1.000	A
SIPA1L2	57568	genome.wustl.edu	37	1	232561348	232561348	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0CT-01A-31W-A071-09	TCGA-A2-A0CT-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2b412ad8-abda-4cf8-8f68-59dbce80031e	b34c4ee7-2776-40c7-9b34-b53e5674aab8	g.chr1:232561348C>T	ENST00000366630.1	-	17	4975	c.4617G>A	c.(4615-4617)atG>atA	p.M1539I	SIPA1L2_ENST00000308942.4_Missense_Mutation_p.M613I|SIPA1L2_ENST00000262861.4_Missense_Mutation_p.M1539I			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1539					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)	p.M1539I(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TCAGGCTCCCCATGCTGGGTG	0.657																																						dbGAP											1	Substitution - Missense(1)	breast(1)											21.0	25.0	24.0					1																	232561348		2178	4276	6454	-	-	-	SO:0001583	missense	0			AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.4617G>A	1.37:g.232561348C>T	ENSP00000355589:p.Met1539Ile		Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	pfam_DUF3401,pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP	p.M1539I	ENST00000366630.1	37	c.4617	CCDS41474.1	1	.	.	.	.	.	.	.	.	.	.	C	13.87	2.367574	0.42003	.	.	ENSG00000116991	ENST00000366630;ENST00000262861;ENST00000308942	T;T;T	0.27557	1.66;1.66;1.66	5.55	3.64	0.41730	.	0.454150	0.27245	N	0.020241	T	0.25494	0.0620	L	0.42686	1.345	0.38424	D	0.946261	B;B	0.02656	0.0;0.0	B;B	0.06405	0.0;0.002	T	0.06972	-1.0797	10	0.27785	T	0.31	-11.8009	11.9587	0.52997	0.128:0.6251:0.2468:0.0	.	1539;613	Q9P2F8;Q9P2F8-2	SI1L2_HUMAN;.	I	1539;1539;613	ENSP00000355589:M1539I;ENSP00000262861:M1539I;ENSP00000309102:M613I	ENSP00000262861:M1539I	M	-	3	0	SIPA1L2	230627971	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	2.113000	0.41902	0.778000	0.33520	0.650000	0.86243	ATG	SIPA1L2	-	pfam_DUF3401	ENSG00000116991		0.657	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIPA1L2	HGNC	protein_coding	OTTHUMT00000092318.1	12	0.00	0	C	XM_045839		232561348	232561348	-1	no_errors	ENST00000262861	ensembl	human	known	69_37n	missense	1	87.50	14	SNP	1.000	T
ST6GALNAC1	55808	genome.wustl.edu	37	17	74623542	74623542	+	Missense_Mutation	SNP	C	C	G			TCGA-A2-A0CT-01A-31W-A071-09	TCGA-A2-A0CT-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2b412ad8-abda-4cf8-8f68-59dbce80031e	b34c4ee7-2776-40c7-9b34-b53e5674aab8	g.chr17:74623542C>G	ENST00000156626.7	-	3	1154	c.955G>C	c.(955-957)Gaa>Caa	p.E319Q	ST6GALNAC1_ENST00000590878.1_5'UTR	NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	319					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)	p.E319Q(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						GCAAAGTGTTCCAGGCGGTCC	0.577																																						dbGAP											1	Substitution - Missense(1)	breast(1)											129.0	109.0	116.0					17																	74623542		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y11339	CCDS11748.1	17q25.3	2013-03-01	2005-02-07	2005-02-07	ENSG00000070526	ENSG00000070526		"""Sialyltransferases"""	23614	protein-coding gene	gene with protein product		610138	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) A"""	SIAT7A			Standard	NM_001289107		Approved	ST6GalNAcI	uc002jsh.3	Q9NSC7	OTTHUMG00000180369	ENST00000156626.7:c.955G>C	17.37:g.74623542C>G	ENSP00000156626:p.Glu319Gln		Q6UW90|Q9NSC6	Missense_Mutation	SNP	pfam_Glyco_trans_29	p.E319Q	ENST00000156626.7	37	c.955	CCDS11748.1	17	.	.	.	.	.	.	.	.	.	.	C	15.24	2.773691	0.49786	.	.	ENSG00000070526	ENST00000156626;ENST00000359088	T;T	0.30448	1.53;1.53	4.86	4.86	0.63082	.	0.140094	0.46442	D	0.000289	T	0.41834	0.1176	L	0.41236	1.265	0.80722	D	1	D	0.54397	0.966	P	0.60068	0.868	T	0.11665	-1.0578	10	0.40728	T	0.16	-29.7328	14.0505	0.64732	0.0:0.8489:0.1511:0.0	.	319	Q9NSC7	SIA7A_HUMAN	Q	319	ENSP00000156626:E319Q;ENSP00000351991:E319Q	ENSP00000156626:E319Q	E	-	1	0	ST6GALNAC1	72135137	0.227000	0.23707	0.998000	0.56505	0.379000	0.30106	0.391000	0.20784	2.407000	0.81776	0.563000	0.77884	GAA	ST6GALNAC1	-	pfam_Glyco_trans_29	ENSG00000070526		0.577	ST6GALNAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST6GALNAC1	HGNC	protein_coding	OTTHUMT00000450974.1	100	0.00	0	C	NM_018414		74623542	74623542	-1	no_errors	ENST00000156626	ensembl	human	known	69_37n	missense	109	31.45	50	SNP	1.000	G
STX10	8677	genome.wustl.edu	37	19	13260551	13260551	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A2-A0CT-01A-31W-A071-09	TCGA-A2-A0CT-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2b412ad8-abda-4cf8-8f68-59dbce80031e	b34c4ee7-2776-40c7-9b34-b53e5674aab8	g.chr19:13260551C>A	ENST00000587230.1	-	2	260	c.196G>T	c.(196-198)Gag>Tag	p.E66*	IER2_ENST00000587885.1_5'Flank|STX10_ENST00000242770.5_Nonsense_Mutation_p.E66*|IER2_ENST00000588173.1_5'Flank|STX10_ENST00000589083.1_Nonsense_Mutation_p.E66*|STX10_ENST00000343587.5_Nonsense_Mutation_p.E66*|IER2_ENST00000292433.3_5'Flank	NM_001271609.1	NP_001258538.1	O60499	STX10_HUMAN	syntaxin 10	66					Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)|vesicle fusion (GO:0006906)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)	p.E66*(1)		breast(1)|endometrium(1)|kidney(1)|lung(2)|prostate(1)	6			OV - Ovarian serous cystadenocarcinoma(19;3.41e-21)			TCGATGGTCTCTTCCAGGTCC	0.657																																						dbGAP											1	Substitution - Nonsense(1)	breast(1)											100.0	91.0	94.0					19																	13260551		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF035531	CCDS32922.1, CCDS62569.1, CCDS62570.1, CCDS62571.1	19p13.13	2008-07-22				ENSG00000104915			11428	protein-coding gene	gene with protein product		603765				9446797	Standard	NM_003765		Approved	hsyn10, SYN10	uc021upq.2	O60499		ENST00000587230.1:c.196G>T	19.37:g.13260551C>A	ENSP00000466298:p.Glu66*		A6NC41|Q6IAP4|Q96AE8	Nonsense_Mutation	SNP	pfam_Syntaxin-6_N,pfam_T_SNARE_dom,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.E66*	ENST00000587230.1	37	c.196	CCDS32922.1	19	.	.	.	.	.	.	.	.	.	.	c	37	6.034985	0.97221	.	.	ENSG00000104915	ENST00000343587;ENST00000242770;ENST00000440593	.	.	.	4.0	2.97	0.34412	.	0.077724	0.48286	U	0.000186	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	.	9.9206	0.41462	0.0:0.8987:0.0:0.1013	.	.	.	.	X	66	.	ENSP00000242770:E66X	E	-	1	0	STX10	13121551	1.000000	0.71417	0.951000	0.38953	0.969000	0.65631	5.465000	0.66725	1.051000	0.40369	-0.213000	0.12676	GAG	STX10	-	pfam_Syntaxin-6_N,superfamily_t-SNARE	ENSG00000104915		0.657	STX10-002	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	STX10	HGNC	protein_coding	OTTHUMT00000452918.1	46	0.00	0	C	NM_003765		13260551	13260551	-1	no_errors	ENST00000587230	ensembl	human	known	69_37n	nonsense	52	13.33	8	SNP	1.000	A
TAP1	6890	genome.wustl.edu	37	6	32813449	32813449	+	Silent	SNP	G	G	A			TCGA-A2-A0CT-01A-31W-A071-09	TCGA-A2-A0CT-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2b412ad8-abda-4cf8-8f68-59dbce80031e	b34c4ee7-2776-40c7-9b34-b53e5674aab8	g.chr6:32813449G>A	ENST00000354258.4	-	11	2495	c.2334C>T	c.(2332-2334)ggC>ggT	p.G778G	PSMB9_ENST00000395330.1_Intron|PSMB8_ENST00000395339.3_5'Flank|PSMB8_ENST00000374881.2_5'Flank|TAPSAR1_ENST00000453426.1_lincRNA|TAP1_ENST00000425148.2_Silent_p.G517G|PSMB8_ENST00000374882.3_5'Flank	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	778	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytosol to ER transport (GO:0046967)|defense response (GO:0006952)|intracellular transport of viral protein in host cell (GO:0019060)|peptide transport (GO:0015833)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)|TAP complex (GO:0042825)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|MHC class Ib protein binding (GO:0023029)|peptide antigen binding (GO:0042605)|peptide transporter activity (GO:0015197)|protein homodimerization activity (GO:0042803)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)	p.G778G(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21					Lapatinib(DB01259)	CCCGGATAGCGCCTCCTTCCA	0.592																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											54.0	54.0	54.0					6																	32813449		1510	2709	4219	-	-	-	SO:0001819	synonymous_variant	0				CCDS4758.1	6p21.3	2014-09-17			ENSG00000168394	ENSG00000168394		"""ATP binding cassette transporters / subfamily B"""	43	protein-coding gene	gene with protein product		170260		ABCB2		1529427, 1946428	Standard	NM_000593		Approved	PSF1, RING4, D6S114E	uc003ocg.3	Q03518	OTTHUMG00000031067	ENST00000354258.4:c.2334C>T	6.37:g.32813449G>A			Q16149|Q96CP4	Silent	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,prints_ABC_B2,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_Ag_transporter2	p.G778	ENST00000354258.4	37	c.2334	CCDS4758.1	6																																																																																			TAP1	-	smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Ag_transporter2	ENSG00000168394		0.592	TAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAP1	HGNC	protein_coding	OTTHUMT00000076087.2	27	0.00	0	G	NM_000593		32813449	32813449	-1	no_errors	ENST00000354258	ensembl	human	known	69_37n	silent	52	24.64	17	SNP	0.054	A
TBCC	6903	genome.wustl.edu	37	6	42713573	42713573	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0CT-01A-31W-A071-09	TCGA-A2-A0CT-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2b412ad8-abda-4cf8-8f68-59dbce80031e	b34c4ee7-2776-40c7-9b34-b53e5674aab8	g.chr6:42713573G>A	ENST00000372876.1	-	1	261	c.239C>T	c.(238-240)tCg>tTg	p.S80L	TBCC_ENST00000244625.2_Missense_Mutation_p.S80L	NM_003192.2	NP_003183	Q15814	TBCC_HUMAN	tubulin folding cofactor C	80					'de novo' posttranslational protein folding (GO:0051084)|cell morphogenesis (GO:0000902)|cellular protein metabolic process (GO:0044267)|GTP catabolic process (GO:0006184)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)	chaperone binding (GO:0051087)|GTPase activity (GO:0003924)	p.S80L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(3)	14	Colorectal(47;0.196)		all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125)			CCGCTCGACCGACTCCGCGCG	0.612																																						dbGAP											1	Substitution - Missense(1)	breast(1)											44.0	49.0	48.0					6																	42713573		2203	4300	6503	-	-	-	SO:0001583	missense	0			U61234	CCDS4872.1	6p21.1	2008-02-05	2006-11-21		ENSG00000124659	ENSG00000124659			11580	protein-coding gene	gene with protein product		602971	"""tubulin-specific chaperone c"""			8706133, 11847227	Standard	NM_003192		Approved	CFC	uc003osl.3	Q15814	OTTHUMG00000014704	ENST00000372876.1:c.239C>T	6.37:g.42713573G>A	ENSP00000361967:p.Ser80Leu		Q53Y43|Q5T787	Missense_Mutation	SNP	pfam_Tubulin-bd_cofactor_C,smart_CARP_motif	p.S80L	ENST00000372876.1	37	c.239	CCDS4872.1	6	.	.	.	.	.	.	.	.	.	.	G	12.18	1.859687	0.32884	.	.	ENSG00000124659	ENST00000372876;ENST00000244625	T;T	0.14640	2.49;2.49	5.03	4.11	0.48088	.	0.439903	0.22226	N	0.062892	T	0.04318	0.0119	L	0.37630	1.12	0.27344	N	0.956423	P	0.48503	0.911	B	0.36092	0.217	T	0.28744	-1.0034	10	0.36615	T	0.2	-4.5856	13.1778	0.59637	0.0:0.0:0.8405:0.1595	.	80	Q15814	TBCC_HUMAN	L	80	ENSP00000361967:S80L;ENSP00000244625:S80L	ENSP00000244625:S80L	S	-	2	0	TBCC	42821551	0.936000	0.31750	0.261000	0.24466	0.037000	0.13140	2.460000	0.45031	2.500000	0.84329	0.557000	0.71058	TCG	TBCC	-	NULL	ENSG00000124659		0.612	TBCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBCC	HGNC	protein_coding	OTTHUMT00000040559.1	39	0.00	0	G	NM_003192		42713573	42713573	-1	no_errors	ENST00000244625	ensembl	human	known	69_37n	missense	32	56.76	42	SNP	0.301	A
TBL1X	6907	genome.wustl.edu	37	X	9683009	9683009	+	Missense_Mutation	SNP	G	G	T			TCGA-A2-A0CT-01A-31W-A071-09	TCGA-A2-A0CT-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2b412ad8-abda-4cf8-8f68-59dbce80031e	b34c4ee7-2776-40c7-9b34-b53e5674aab8	g.chrX:9683009G>T	ENST00000217964.7	+	17	2313	c.1673G>T	c.(1672-1674)gGa>gTa	p.G558V	TBL1X_ENST00000407597.2_Missense_Mutation_p.G558V|TBL1X_ENST00000424279.1_Missense_Mutation_p.G507V|TBL1X_ENST00000380961.1_Missense_Mutation_p.G507V|TBL1X_ENST00000536365.1_Missense_Mutation_p.G507V	NM_005647.3	NP_005638.1	O60907	TBL1X_HUMAN	transducin (beta)-like 1X-linked	558					canonical Wnt signaling pathway (GO:0060070)|cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|proteolysis (GO:0006508)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|histone binding (GO:0042393)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.G558V(2)		breast(2)|cervix(1)|endometrium(5)|large_intestine(7)|lung(2)|ovary(1)|skin(2)	20		Hepatocellular(5;0.000888)				AACGCCCGAGGAGACAAAGTG	0.582																																						dbGAP											2	Substitution - Missense(2)	breast(2)											83.0	60.0	68.0					X																	9683009		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y12781	CCDS14133.1, CCDS48078.1	Xp22.3	2013-01-10	2002-05-22	2002-05-24	ENSG00000101849	ENSG00000101849		"""WD repeat domain containing"""	11585	protein-coding gene	gene with protein product		300196	"""transducin (beta)-like 1"""	TBL1		10330347	Standard	NM_005647		Approved	EBI	uc004csr.3	O60907	OTTHUMG00000021117	ENST00000217964.7:c.1673G>T	X.37:g.9683009G>T	ENSP00000217964:p.Gly558Val		A8K044|A8K4J7|Q86UY2	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_LisH_dimerisation_subgr,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.G558V	ENST00000217964.7	37	c.1673	CCDS14133.1	X	.	.	.	.	.	.	.	.	.	.	G	22.9	4.354985	0.82243	.	.	ENSG00000101849	ENST00000407597;ENST00000424279;ENST00000536365;ENST00000380961;ENST00000217964	D;D;D;D;D	0.84873	-1.91;-1.91;-1.91;-1.91;-1.91	3.8	3.8	0.43715	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.93141	0.7816	M	0.89287	3.02	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.94733	0.7911	10	0.87932	D	0	.	15.6252	0.76851	0.0:0.0:1.0:0.0	.	521;558	Q59F53;O60907	.;TBL1X_HUMAN	V	558;507;507;507;558	ENSP00000385988:G558V;ENSP00000394097:G507V;ENSP00000445317:G507V;ENSP00000370348:G507V;ENSP00000217964:G558V	ENSP00000217964:G558V	G	+	2	0	TBL1X	9643009	1.000000	0.71417	0.842000	0.33263	0.942000	0.58702	8.742000	0.91588	1.667000	0.50832	0.429000	0.28392	GGA	TBL1X	-	superfamily_WD40_repeat_dom,smart_WD40_repeat	ENSG00000101849		0.582	TBL1X-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	TBL1X	HGNC	protein_coding	OTTHUMT00000055709.1	22	0.00	0	G	NM_005647		9683009	9683009	+1	no_errors	ENST00000217964	ensembl	human	known	69_37n	missense	4	82.61	19	SNP	0.998	T
TBL3	10607	genome.wustl.edu	37	16	2024405	2024405	+	Missense_Mutation	SNP	A	A	G			TCGA-A2-A0CT-01A-31W-A071-09	TCGA-A2-A0CT-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2b412ad8-abda-4cf8-8f68-59dbce80031e	b34c4ee7-2776-40c7-9b34-b53e5674aab8	g.chr16:2024405A>G	ENST00000568546.1	+	4	346	c.218A>G	c.(217-219)gAc>gGc	p.D73G		NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN	transducin (beta)-like 3	73					G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|intracellular signal transduction (GO:0035556)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)|receptor signaling protein activity (GO:0005057)	p.D73G(1)		breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						ACTGCCTTTGACCTCAGCCCT	0.632																																					Melanoma(118;616 1651 35077 38081 48633)	dbGAP											1	Substitution - Missense(1)	breast(1)											151.0	151.0	151.0					16																	2024405		2199	4300	6499	-	-	-	SO:0001583	missense	0			U02609	CCDS10453.1	16p13.3	2013-01-10			ENSG00000183751	ENSG00000183751		"""WD repeat domain containing"""	11587	protein-coding gene	gene with protein product		605915				8307582	Standard	NM_006453		Approved	SAZD, UTP13	uc002cnu.1	Q12788	OTTHUMG00000128710	ENST00000568546.1:c.218A>G	16.37:g.2024405A>G	ENSP00000454836:p.Asp73Gly		Q59GD6|Q8IVB7|Q96A78	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_SSU_processome_Utp13,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.D73G	ENST00000568546.1	37	c.218	CCDS10453.1	16	.	.	.	.	.	.	.	.	.	.	A	1.966	-0.437746	0.04636	.	.	ENSG00000183751	ENST00000332704	.	.	.	4.83	3.65	0.41850	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.566612	0.20084	N	0.099592	T	0.33731	0.0873	N	0.22421	0.69	0.37141	D	0.901733	B	0.19445	0.036	B	0.15484	0.013	T	0.36915	-0.9728	9	0.59425	D	0.04	-23.9379	4.8249	0.13410	0.5794:0.1613:0.0:0.2592	.	73	Q12788	TBL3_HUMAN	G	73	.	ENSP00000331815:D73G	D	+	2	0	TBL3	1964406	0.933000	0.31639	0.980000	0.43619	0.136000	0.21042	2.067000	0.41461	1.796000	0.52611	0.459000	0.35465	GAC	TBL3	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000183751		0.632	TBL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBL3	HGNC	protein_coding	OTTHUMT00000250615.3	20	0.00	0	A	NM_006453		2024405	2024405	+1	no_errors	ENST00000568546	ensembl	human	known	69_37n	missense	30	18.42	7	SNP	0.955	G
TBX18	9096	genome.wustl.edu	37	6	85448266	85448266	+	Missense_Mutation	SNP	G	G	T			TCGA-A2-A0CT-01A-31W-A071-09	TCGA-A2-A0CT-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2b412ad8-abda-4cf8-8f68-59dbce80031e	b34c4ee7-2776-40c7-9b34-b53e5674aab8	g.chr6:85448266G>T	ENST00000369663.5	-	7	1385	c.1048C>A	c.(1048-1050)Cca>Aca	p.P350T	TBX18_ENST00000606784.1_Missense_Mutation_p.P192T	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	350					anterior/posterior axis specification (GO:0009948)|cochlea morphogenesis (GO:0090103)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060829)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|sensory perception of sound (GO:0007605)|sinoatrial node development (GO:0003163)|smooth muscle cell differentiation (GO:0051145)|somitogenesis (GO:0001756)|ureter development (GO:0072189)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.P350T(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		CGTAGTGATGGTCGCCAGAAT	0.468																																						dbGAP											1	Substitution - Missense(1)	breast(1)											212.0	197.0	202.0					6																	85448266		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ010278	CCDS34495.1	6q14.1-q15	2012-12-19			ENSG00000112837	ENSG00000112837		"""T-boxes"""	11595	protein-coding gene	gene with protein product		604613				9888994, 16688725, 23242162	Standard	NM_001080508		Approved		uc003pkl.2	O95935	OTTHUMG00000015129	ENST00000369663.5:c.1048C>A	6.37:g.85448266G>T	ENSP00000358677:p.Pro350Thr		A2RU13|Q7Z6U4|Q9UJI6	Missense_Mutation	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.P350T	ENST00000369663.5	37	c.1048	CCDS34495.1	6	.	.	.	.	.	.	.	.	.	.	G	21.2	4.120553	0.77323	.	.	ENSG00000112837	ENST00000416980;ENST00000369663	D	0.89343	-2.5	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.91140	0.7210	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	0.985;1.0	P;D	0.91635	0.735;0.999	D	0.91263	0.5038	10	0.59425	D	0.04	.	19.8472	0.96713	0.0:0.0:1.0:0.0	.	266;350	Q8IW86;O95935	.;TBX18_HUMAN	T	265;350	ENSP00000358677:P350T	ENSP00000358677:P350T	P	-	1	0	TBX18	85504985	1.000000	0.71417	0.995000	0.50966	0.344000	0.29017	9.420000	0.97426	2.768000	0.95171	0.650000	0.86243	CCA	TBX18	-	NULL	ENSG00000112837		0.468	TBX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBX18	HGNC	protein_coding	OTTHUMT00000041378.2	208	0.00	0	G	NM_001080508		85448266	85448266	-1	no_errors	ENST00000369663	ensembl	human	known	69_37n	missense	45	73.56	128	SNP	1.000	T
TCHH	7062	genome.wustl.edu	37	1	152085140	152085140	+	Missense_Mutation	SNP	C	C	G			TCGA-A2-A0CT-01A-31W-A071-09	TCGA-A2-A0CT-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2b412ad8-abda-4cf8-8f68-59dbce80031e	b34c4ee7-2776-40c7-9b34-b53e5674aab8	g.chr1:152085140C>G	ENST00000368804.1	-	2	552	c.553G>C	c.(553-555)Gag>Cag	p.E185Q		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	185					keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)	p.E185Q(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCACGGCGCTCTTCCCGTTCT	0.582																																						dbGAP											1	Substitution - Missense(1)	breast(1)											106.0	113.0	111.0					1																	152085140		2077	4199	6276	-	-	-	SO:0001583	missense	0			L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.553G>C	1.37:g.152085140C>G	ENSP00000357794:p.Glu185Gln		Q5VUI3	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2	p.E185Q	ENST00000368804.1	37	c.553	CCDS41396.1	1	.	.	.	.	.	.	.	.	.	.	c	9.346	1.064335	0.20067	.	.	ENSG00000159450	ENST00000368804	T	0.04970	3.52	4.94	0.69	0.18039	.	.	.	.	.	T	0.00815	0.0027	N	0.08118	0	0.09310	N	1	B	0.26195	0.144	B	0.21546	0.035	T	0.47787	-0.9090	9	0.26408	T	0.33	.	3.7852	0.08697	0.0:0.4141:0.1996:0.3862	.	185	Q07283	TRHY_HUMAN	Q	185	ENSP00000357794:E185Q	ENSP00000357794:E185Q	E	-	1	0	TCHH	150351764	0.000000	0.05858	0.003000	0.11579	0.083000	0.17756	0.259000	0.18405	0.281000	0.22233	-0.372000	0.07161	GAG	TCHH	-	NULL	ENSG00000159450		0.582	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCHH	HGNC	protein_coding	OTTHUMT00000036671.2	101	0.00	0	C	NM_007113		152085140	152085140	-1	no_errors	ENST00000368804	ensembl	human	known	69_37n	missense	78	41.35	55	SNP	0.006	G
TCP10	6953	genome.wustl.edu	37	6	167790110	167790110	+	Missense_Mutation	SNP	C	C	T	rs201005141		TCGA-A2-A0CT-01A-31W-A071-09	TCGA-A2-A0CT-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2b412ad8-abda-4cf8-8f68-59dbce80031e	b34c4ee7-2776-40c7-9b34-b53e5674aab8	g.chr6:167790110C>T	ENST00000397829.4	-	5	667	c.500G>A	c.(499-501)cGt>cAt	p.R167H	TCP10_ENST00000366827.2_Missense_Mutation_p.R167H	NM_004610.3	NP_004601.3	Q12799	TCP10_HUMAN	t-complex 10	194						cytosol (GO:0005829)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		TCTGTCTTGACGTCTCCCGGG	0.507																																						dbGAP											0													34.0	33.0	33.0					6																	167790110		1384	2863	4247	-	-	-	SO:0001583	missense	0			U03399	CCDS43527.1	6q27	2012-09-20	2012-09-20		ENSG00000203690	ENSG00000203690			11656	protein-coding gene	gene with protein product		187020	"""t-complex 10 (a murine tcp homolog)"", ""t-complex 10 (mouse)"", ""t-complex 10 homolog (mouse)"""			8111376	Standard	NM_004610		Approved		uc003qvv.1	Q12799	OTTHUMG00000016026	ENST00000397829.4:c.500G>A	6.37:g.167790110C>T	ENSP00000380929:p.Arg167His		Q5JR60|Q6P4F4	Missense_Mutation	SNP	NULL	p.R167H	ENST00000397829.4	37	c.500	CCDS43527.1	6	259	0.11858974358974358	19	0.03861788617886179	43	0.11878453038674033	77	0.1346153846153846	120	0.158311345646438	C	4.738	0.137311	0.09032	.	.	ENSG00000203690	ENST00000366827;ENST00000397829;ENST00000460930	T;T;T	0.46063	2.31;2.31;0.88	2.01	-3.81	0.04294	.	.	.	.	.	T	0.05823	0.0152	N	0.22421	0.69	0.80722	P	0.0	B;B;B	0.10296	0.0;0.001;0.003	B;B;B	0.04013	0.0;0.001;0.001	T	0.33445	-0.9868	8	0.14656	T	0.56	.	0.1293	0.00072	0.3461:0.2399:0.1818:0.2322	.	167;194;194	D1MPS5;Q12799;Q12799-2	.;TCP10_HUMAN;.	H	167;167;163	ENSP00000355792:R167H;ENSP00000380929:R167H;ENSP00000426065:R163H	ENSP00000355792:R167H	R	-	2	0	TCP10	167710100	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.003000	0.13083	-1.001000	0.03434	-1.021000	0.02439	CGT	TCP10	-	NULL	ENSG00000203690		0.507	TCP10-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TCP10	HGNC	protein_coding	OTTHUMT00000365570.1	31	0.00	0	C	NM_004610		167790110	167790110	-1	no_errors	ENST00000397829	ensembl	human	known	69_37n	missense	9	18.18	2	SNP	0.001	T
TKTL2	84076	genome.wustl.edu	37	4	164393824	164393824	+	Missense_Mutation	SNP	A	A	G			TCGA-A2-A0CT-01A-31W-A071-09	TCGA-A2-A0CT-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2b412ad8-abda-4cf8-8f68-59dbce80031e	b34c4ee7-2776-40c7-9b34-b53e5674aab8	g.chr4:164393824A>G	ENST00000280605.3	-	1	1223	c.1063T>C	c.(1063-1065)Ttc>Ctc	p.F355L		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	355						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)	p.F355L(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TCTTTCCTGAATATCTCAGAA	0.443																																						dbGAP											1	Substitution - Missense(1)	breast(1)											107.0	106.0	107.0					4																	164393824		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC028707	CCDS3805.1	4q32.2	2009-10-06			ENSG00000151005	ENSG00000151005			25313	protein-coding gene	gene with protein product	"""similar to transketolase"""					11230166	Standard	NM_032136		Approved	FLJ32975, DKFZP434L1717	uc003iqp.4	Q9H0I9	OTTHUMG00000161527	ENST00000280605.3:c.1063T>C	4.37:g.164393824A>G	ENSP00000280605:p.Phe355Leu		A4FVB4|Q8NCT0|Q96M82	Missense_Mutation	SNP	pfam_Transketolase_N,pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,pfam_DH_E1,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd	p.F355L	ENST00000280605.3	37	c.1063	CCDS3805.1	4	.	.	.	.	.	.	.	.	.	.	A	13.71	2.318864	0.41096	.	.	ENSG00000151005	ENST00000280605	T	0.48836	0.8	4.15	2.94	0.34122	Transketolase-like, pyrimidine-binding domain (2);	0.000000	0.85682	D	0.000000	T	0.53997	0.1831	M	0.84846	2.72	0.54753	D	0.999988	B	0.31968	0.349	B	0.40228	0.323	T	0.53308	-0.8457	10	0.39692	T	0.17	-11.8083	8.3165	0.32104	0.902:0.0:0.098:0.0	.	355	Q9H0I9	TKTL2_HUMAN	L	355	ENSP00000280605:F355L	ENSP00000280605:F355L	F	-	1	0	TKTL2	164613274	1.000000	0.71417	0.930000	0.37139	0.927000	0.56198	7.037000	0.76531	0.905000	0.36596	0.533000	0.62120	TTC	TKTL2	-	pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd	ENSG00000151005		0.443	TKTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TKTL2	HGNC	protein_coding	OTTHUMT00000365207.1	146	0.00	0	A	NM_032136		164393824	164393824	-1	no_errors	ENST00000280605	ensembl	human	known	69_37n	missense	98	51.94	107	SNP	0.995	G
TMEM74B	55321	genome.wustl.edu	37	20	1161624	1161624	+	Silent	SNP	G	G	A			TCGA-A2-A0CT-01A-31W-A071-09	TCGA-A2-A0CT-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2b412ad8-abda-4cf8-8f68-59dbce80031e	b34c4ee7-2776-40c7-9b34-b53e5674aab8	g.chr20:1161624G>A	ENST00000381894.3	-	2	1310	c.639C>T	c.(637-639)ggC>ggT	p.G213G	TMEM74B_ENST00000481747.1_5'Flank	NM_018354.1	NP_060824.1	Q9NUR3	TM74B_HUMAN	transmembrane protein 74B	213						integral component of membrane (GO:0016021)		p.G213G(1)									TGGAGCCCTTGCCGGGGACGA	0.637																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											58.0	57.0	58.0					20																	1161624		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK002052	CCDS13011.1	20p13	2011-11-23	2011-11-23	2011-11-23	ENSG00000125895	ENSG00000125895			15893	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 46"""	C20orf46			Standard	XM_005260748		Approved	FLJ11190	uc002weq.1	Q9NUR3	OTTHUMG00000031655	ENST00000381894.3:c.639C>T	20.37:g.1161624G>A			D3DVW5	Silent	SNP	NULL	p.G213	ENST00000381894.3	37	c.639	CCDS13011.1	20																																																																																			TMEM74B	-	NULL	ENSG00000125895		0.637	TMEM74B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM74B	HGNC	protein_coding	OTTHUMT00000077496.2	43	0.00	0	G	NM_018354		1161624	1161624	-1	no_errors	ENST00000381894	ensembl	human	known	69_37n	silent	82	17.17	17	SNP	1.000	A
TSLP	85480	genome.wustl.edu	37	5	110411667	110411667	+	Silent	SNP	G	G	A			TCGA-A2-A0CT-01A-31W-A071-09	TCGA-A2-A0CT-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2b412ad8-abda-4cf8-8f68-59dbce80031e	b34c4ee7-2776-40c7-9b34-b53e5674aab8	g.chr5:110411667G>A	ENST00000344895.3	+	4	574	c.375G>A	c.(373-375)aaG>aaA	p.K125K	CTC-551A13.2_ENST00000507269.3_RNA|TSLP_ENST00000420978.2_Silent_p.K125K|TSLP_ENST00000379706.4_Silent_p.K29K	NM_033035.4	NP_149024.1	Q969D9	TSLP_HUMAN	thymic stromal lymphopoietin	125						extracellular space (GO:0005615)		p.K125K(1)		breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11		all_cancers(142;2.72e-05)|all_epithelial(76;4.39e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0417)|Ovarian(225;0.0443)|Colorectal(57;0.0464)|all_lung(232;0.0507)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.24e-08)|Epithelial(69;1.54e-07)|all cancers(49;1.73e-05)|COAD - Colon adenocarcinoma(37;0.109)		AGGCAATGAAGAAGAGGAGAA	0.363																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											104.0	103.0	103.0					5																	110411667		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			BC040592	CCDS4101.1	5q22.1	2007-08-24			ENSG00000145777	ENSG00000145777			30743	protein-coding gene	gene with protein product		607003				11418668, 11480573	Standard	NM_033035		Approved		uc003kpb.2	Q969D9	OTTHUMG00000128791	ENST00000344895.3:c.375G>A	5.37:g.110411667G>A			Q8IW99	Silent	SNP	NULL	p.K125	ENST00000344895.3	37	c.375	CCDS4101.1	5																																																																																			TSLP	-	NULL	ENSG00000145777		0.363	TSLP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSLP	HGNC	protein_coding	OTTHUMT00000250717.1	135	0.00	0	G	NM_033035		110411667	110411667	+1	no_errors	ENST00000344895	ensembl	human	known	69_37n	silent	103	18.90	24	SNP	0.000	A
TTBK1	84630	genome.wustl.edu	37	6	43251629	43251629	+	Missense_Mutation	SNP	C	C	T	rs536899086		TCGA-A2-A0CT-01A-31W-A071-09	TCGA-A2-A0CT-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2b412ad8-abda-4cf8-8f68-59dbce80031e	b34c4ee7-2776-40c7-9b34-b53e5674aab8	g.chr6:43251629C>T	ENST00000259750.4	+	14	3234	c.3151C>T	c.(3151-3153)Cgc>Tgc	p.R1051C		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	1051					substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R1051C(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			GCCAGGCTCTCGCCCCAGGAG	0.687													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15847	0.0		0.0	False		,,,				2504	0.0					dbGAP											1	Substitution - Missense(1)	breast(1)											29.0	27.0	28.0					6																	43251629		2184	4243	6427	-	-	-	SO:0001583	missense	0			AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.3151C>T	6.37:g.43251629C>T	ENSP00000259750:p.Arg1051Cys		A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.R1051C	ENST00000259750.4	37	c.3151	CCDS34455.1	6	.	.	.	.	.	.	.	.	.	.	C	15.32	2.799490	0.50208	.	.	ENSG00000146216	ENST00000259750	T	0.60171	0.21	5.25	5.25	0.73442	.	0.338710	0.25063	N	0.033435	T	0.50240	0.1604	L	0.59436	1.845	0.80722	D	1	D	0.69078	0.997	P	0.47470	0.548	T	0.59418	-0.7458	10	0.87932	D	0	.	13.2768	0.60191	0.1593:0.8407:0.0:0.0	.	1051	Q5TCY1	TTBK1_HUMAN	C	1051	ENSP00000259750:R1051C	ENSP00000259750:R1051C	R	+	1	0	TTBK1	43359607	0.694000	0.27738	0.838000	0.33150	0.550000	0.35303	1.612000	0.36889	2.449000	0.82847	0.462000	0.41574	CGC	TTBK1	-	NULL	ENSG00000146216		0.687	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTBK1	HGNC	protein_coding	OTTHUMT00000040584.3	39	0.00	0	C			43251629	43251629	+1	no_errors	ENST00000259750	ensembl	human	known	69_37n	missense	36	37.93	22	SNP	0.734	T
UBAP2L	9898	genome.wustl.edu	37	1	154229568	154229568	+	Silent	SNP	C	C	T			TCGA-A2-A0CT-01A-31W-A071-09	TCGA-A2-A0CT-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2b412ad8-abda-4cf8-8f68-59dbce80031e	b34c4ee7-2776-40c7-9b34-b53e5674aab8	g.chr1:154229568C>T	ENST00000361546.2	+	18	2229	c.2187C>T	c.(2185-2187)ctC>ctT	p.L729L	AL590431.1_ENST00000517008.1_RNA|UBAP2L_ENST00000271877.7_Silent_p.L740L|UBAP2L_ENST00000343815.6_Silent_p.L729L|SNORA58_ENST00000364259.1_RNA|UBAP2L_ENST00000428931.1_Silent_p.L729L			Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	729					binding of sperm to zona pellucida (GO:0007339)		poly(A) RNA binding (GO:0044822)	p.L729L(2)|p.L225L(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			AGGCGAATCTCCATTCTTCCT	0.502																																						dbGAP											3	Substitution - coding silent(3)	breast(3)											113.0	103.0	106.0					1																	154229568		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC003170	CCDS1063.1, CCDS44229.1, CCDS72925.1	1q21.3	2008-02-05			ENSG00000143569	ENSG00000143569			29877	protein-coding gene	gene with protein product						8590280, 11230159	Standard	NM_014847		Approved	NICE-4, KIAA0144	uc001fep.4	Q14157	OTTHUMG00000035983	ENST00000361546.2:c.2187C>T	1.37:g.154229568C>T			B4E0U8|Q5VU75|Q5VU76|Q9BTU3|Q9UGL2|Q9UGL3|Q9UGL4|Q9UGL5	Missense_Mutation	SNP	NULL	p.P60S	ENST00000361546.2	37	c.178	CCDS1063.1	1	.	.	.	.	.	.	.	.	.	.	C	9.507	1.104698	0.20632	.	.	ENSG00000143569	ENST00000433615;ENST00000428595	.	.	.	5.4	-0.0348	0.13895	.	.	.	.	.	T	0.23766	0.0575	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.22382	-1.0218	4	.	.	.	-5.6498	1.3374	0.02148	0.2501:0.418:0.1217:0.2102	.	.	.	.	S	60;8	.	.	P	+	1	0	UBAP2L	152496192	0.977000	0.34250	0.999000	0.59377	0.999000	0.98932	0.032000	0.13732	0.107000	0.17824	0.655000	0.94253	CCA	UBAP2L	-	NULL	ENSG00000143569		0.502	UBAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBAP2L	HGNC	protein_coding	OTTHUMT00000087673.1	134	0.00	0	C	NM_014847		154229568	154229568	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000433615	ensembl	human	known	69_37n	missense	126	41.94	91	SNP	0.998	T
ZNF486	90649	genome.wustl.edu	37	19	20308633	20308633	+	Missense_Mutation	SNP	C	C	G	rs368685457		TCGA-A2-A0CT-01A-31W-A071-09	TCGA-A2-A0CT-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2b412ad8-abda-4cf8-8f68-59dbce80031e	b34c4ee7-2776-40c7-9b34-b53e5674aab8	g.chr19:20308633C>G	ENST00000335117.8	+	4	1171	c.1114C>G	c.(1114-1116)Cat>Gat	p.H372D	CTC-260E6.6_ENST00000593655.1_RNA|CTC-260E6.6_ENST00000586657.1_RNA|CTC-260E6.6_ENST00000585498.1_RNA	NM_052852.3	NP_443084.2	Q96H40	ZN486_HUMAN	zinc finger protein 486	372					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.H366D(1)|p.H372D(1)		endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						TAAGATAATTCATACTGGAGA	0.423																																						dbGAP											2	Substitution - Missense(2)	breast(2)											40.0	43.0	42.0					19																	20308633		2174	4285	6459	-	-	-	SO:0001583	missense	0			BC008936	CCDS46029.1	19p12	2014-02-13	2003-12-16	2003-12-17	ENSG00000256229	ENSG00000256229		"""Zinc fingers, C2H2-type"", ""-"""	20807	protein-coding gene	gene with protein product			"""KRAB domain only 2"""	KRBO2			Standard	NM_052852		Approved	MGC2396	uc002nou.3	Q96H40	OTTHUMG00000179731	ENST00000335117.8:c.1114C>G	19.37:g.20308633C>G	ENSP00000335042:p.His372Asp		Q0VG00	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H372D	ENST00000335117.8	37	c.1114	CCDS46029.1	19	.	.	.	.	.	.	.	.	.	.	-	14.89	2.669503	0.47677	.	.	ENSG00000256229	ENST00000545779;ENST00000335117	T	0.67698	-0.28	0.85	0.85	0.18980	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.84955	0.5587	H	0.97659	4.05	0.36671	D	0.878504	D	0.76494	0.999	D	0.78314	0.991	D	0.84620	0.0683	9	0.87932	D	0	.	6.9971	0.24789	0.0:1.0:0.0:0.0	.	372	Q96H40	ZN486_HUMAN	D	411;372	ENSP00000335042:H372D	ENSP00000335042:H372D	H	+	1	0	ZNF486	20169633	0.996000	0.38824	0.240000	0.24138	0.240000	0.25518	5.323000	0.65858	0.192000	0.20272	0.195000	0.17529	CAT	ZNF486	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000256229		0.423	ZNF486-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF486	HGNC	protein_coding	OTTHUMT00000447843.2	155	0.64	1	C	NM_052852		20308633	20308633	+1	no_errors	ENST00000335117	ensembl	human	known	69_37n	missense	173	37.77	105	SNP	0.983	G
ZNF473	25888	genome.wustl.edu	37	19	50548923	50548923	+	Missense_Mutation	SNP	G	G	T	rs201939961		TCGA-A2-A0CT-01A-31W-A071-09	TCGA-A2-A0CT-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2b412ad8-abda-4cf8-8f68-59dbce80031e	b34c4ee7-2776-40c7-9b34-b53e5674aab8	g.chr19:50548923G>T	ENST00000595661.1	+	6	1718	c.1223G>T	c.(1222-1224)cGt>cTt	p.R408L	CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000601364.1_Intron|ZNF473_ENST00000270617.3_Missense_Mutation_p.R408L|ZNF473_ENST00000445728.3_Missense_Mutation_p.R396L|ZNF473_ENST00000391821.2_Missense_Mutation_p.R408L|CTD-2126E3.3_ENST00000599914.1_RNA			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	408	Interaction with SLBP/pre-mRNA complex.				gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R408L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		TGTAACGAACGTGGGAAATCC	0.488																																						dbGAP											1	Substitution - Missense(1)	breast(1)											99.0	100.0	100.0					19																	50548923		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB032967	CCDS33077.1	19q13.33	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	23239	protein-coding gene	gene with protein product						11782445	Standard	NM_015428		Approved	KIAA1141, DKFZP434N043, HZFP100	uc002prn.3	Q8WTR7		ENST00000595661.1:c.1223G>T	19.37:g.50548923G>T	ENSP00000472808:p.Arg408Leu		A8K8T7|Q9ULS9|Q9Y4Q7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R408L	ENST00000595661.1	37	c.1223	CCDS33077.1	19	.	.	.	.	.	.	.	.	.	.	G	16.79	3.220390	0.58560	.	.	ENSG00000142528	ENST00000270617;ENST00000391821;ENST00000445728	T;T;T	0.14640	2.49;2.49;2.49	4.24	4.24	0.50183	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.147715	0.32175	N	0.006463	T	0.11110	0.0271	N	0.24115	0.695	0.36928	D	0.89175	B	0.06786	0.001	B	0.08055	0.003	T	0.10660	-1.0620	10	0.87932	D	0	-5.9534	14.9411	0.70994	0.0:0.0:1.0:0.0	.	408	Q8WTR7	ZN473_HUMAN	L	408;408;396	ENSP00000270617:R408L;ENSP00000375697:R408L;ENSP00000388961:R396L	ENSP00000270617:R408L	R	+	2	0	ZNF473	55240735	1.000000	0.71417	0.946000	0.38457	0.646000	0.38490	9.473000	0.97714	2.652000	0.90054	0.563000	0.77884	CGT	ZNF473	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000142528		0.488	ZNF473-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF473	HGNC	protein_coding	OTTHUMT00000464833.1	210	0.47	1	G	XM_046390		50548923	50548923	+1	no_errors	ENST00000270617	ensembl	human	known	69_37n	missense	141	49.10	137	SNP	1.000	T
ZNF518B	85460	genome.wustl.edu	37	4	10445216	10445216	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0CT-01A-31W-A071-09	TCGA-A2-A0CT-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2b412ad8-abda-4cf8-8f68-59dbce80031e	b34c4ee7-2776-40c7-9b34-b53e5674aab8	g.chr4:10445216C>T	ENST00000326756.3	-	3	3175	c.2737G>A	c.(2737-2739)Gat>Aat	p.D913N		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	913					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.D913N(1)		breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						ATTGAAGGATCCTTGAGACAG	0.413																																						dbGAP											1	Substitution - Missense(1)	breast(1)											102.0	102.0	102.0					4																	10445216		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB051516	CCDS33960.1	4p16.1	2007-12-07				ENSG00000178163		"""Zinc fingers, C2H2-type"""	29365	protein-coding gene	gene with protein product						11214970	Standard	XM_005248193		Approved	KIAA1729	uc003gmn.3	Q9C0D4		ENST00000326756.3:c.2737G>A	4.37:g.10445216C>T	ENSP00000317614:p.Asp913Asn		Q96LN8	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D913N	ENST00000326756.3	37	c.2737	CCDS33960.1	4	.	.	.	.	.	.	.	.	.	.	C	25.0	4.587932	0.86851	.	.	ENSG00000178163	ENST00000326756	T	0.01767	4.65	6.01	5.12	0.69794	.	0.238077	0.36066	N	0.002816	T	0.03783	0.0107	L	0.43152	1.355	0.27208	N	0.959995	D	0.59767	0.986	P	0.53266	0.722	T	0.28170	-1.0052	10	0.66056	D	0.02	-30.2123	9.3607	0.38195	0.0:0.7798:0.1458:0.0745	.	913	Q9C0D4	Z518B_HUMAN	N	913	ENSP00000317614:D913N	ENSP00000317614:D913N	D	-	1	0	ZNF518B	10054314	0.996000	0.38824	1.000000	0.80357	0.947000	0.59692	1.367000	0.34204	2.861000	0.98227	0.650000	0.86243	GAT	ZNF518B	-	NULL	ENSG00000178163		0.413	ZNF518B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF518B	HGNC	protein_coding	OTTHUMT00000359040.1	165	0.00	0	C	NM_053042		10445216	10445216	-1	no_errors	ENST00000326756	ensembl	human	known	69_37n	missense	200	35.37	110	SNP	0.994	T
ZNF658	26149	genome.wustl.edu	37	9	40772564	40772564	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0CT-01A-31W-A071-09	TCGA-A2-A0CT-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2b412ad8-abda-4cf8-8f68-59dbce80031e	b34c4ee7-2776-40c7-9b34-b53e5674aab8	g.chr9:40772564C>T	ENST00000602553.1	-	5	3005	c.2711G>A	c.(2710-2712)cGc>cAc	p.R904H	ZNF658_ENST00000377626.3_Missense_Mutation_p.R904H|ZNF658_ENST00000441795.1_Intron			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	904					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		CTCCCCTGAGCGAGTTCTAAG	0.458																																						dbGAP											0													77.0	76.0	76.0					9																	40772564		2201	4282	6483	-	-	-	SO:0001583	missense	0			AA482262	CCDS75846.1	9p13.1	2013-01-08			ENSG00000196409	ENSG00000274349		"""Zinc fingers, C2H2-type"", ""-"""	25226	protein-coding gene	gene with protein product							Standard	NM_033160		Approved	MGC35232, DKFZp572C163, FLJ32813	uc004abs.2	Q5TYW1	OTTHUMG00000013392	ENST00000602553.1:c.2711G>A	9.37:g.40772564C>T	ENSP00000473484:p.Arg904His		Q6PIP3|Q96M55|Q9H9S6|Q9UG02	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R904H	ENST00000602553.1	37	c.2711	CCDS35023.1	9	.	.	.	.	.	.	.	.	.	.	c	0.017	-1.506347	0.00992	.	.	ENSG00000196409	ENST00000377626	T	0.01538	4.79	1.86	-0.805	0.10879	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00300	0.0009	N	0.00009	-3.09	0.50039	D	0.999846	B	0.06786	0.001	B	0.01281	0.0	T	0.42949	-0.9421	9	0.02654	T	1	.	5.4351	0.16476	0.0:0.3244:0.0:0.6756	.	904	Q5TYW1	ZN658_HUMAN	H	904	ENSP00000366853:R904H	ENSP00000366853:R904H	R	-	2	0	ZNF658	40762564	1.000000	0.71417	0.001000	0.08648	0.798000	0.45092	1.364000	0.34171	-0.181000	0.10619	0.518000	0.50308	CGC	ZNF658	-	pfscan_Znf_C2H2	ENSG00000196409		0.458	ZNF658-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF658	HGNC	protein_coding	OTTHUMT00000467800.1	264	0.00	0	C	NM_033160		40772564	40772564	-1	no_errors	ENST00000377626	ensembl	human	known	69_37n	missense	60	79.87	242	SNP	0.707	T
ZSCAN10	84891	genome.wustl.edu	37	16	3140511	3140511	+	Silent	SNP	G	G	A			TCGA-A2-A0CT-01A-31W-A071-09	TCGA-A2-A0CT-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	2b412ad8-abda-4cf8-8f68-59dbce80031e	b34c4ee7-2776-40c7-9b34-b53e5674aab8	g.chr16:3140511G>A	ENST00000252463.2	-	5	846	c.759C>T	c.(757-759)ctC>ctT	p.L253L	ZSCAN10_ENST00000575108.1_5'UTR|ZSCAN10_ENST00000538082.2_Silent_p.L171L	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	253					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L253L(1)		breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						CGCCCCGTCCGAGCGACTGGG	0.637																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											44.0	51.0	48.0					16																	3140511		2193	4297	6490	-	-	-	SO:0001819	synonymous_variant	0			AA206569	CCDS10493.1, CCDS61813.1, CCDS61814.1	16p13.3	2013-01-08	2007-02-20	2007-02-20		ENSG00000130182		"""-"", ""Zinc fingers, C2H2-type"""	12997	protein-coding gene	gene with protein product			"""zinc finger protein 206"""	ZNF206		9653642	Standard	NM_032805		Approved		uc002ctv.1	Q96SZ4		ENST00000252463.2:c.759C>T	16.37:g.3140511G>A			B3KQD3|H0YFS6|Q1WWM2	Silent	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.L253	ENST00000252463.2	37	c.759	CCDS10493.1	16																																																																																			ZSCAN10	-	NULL	ENSG00000130182		0.637	ZSCAN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN10	HGNC	protein_coding	OTTHUMT00000437124.2	19	0.00	0	G	NM_032805		3140511	3140511	-1	no_errors	ENST00000252463	ensembl	human	known	69_37n	silent	18	37.93	11	SNP	0.000	A
