#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
ABCA4	24	genome.wustl.edu	37	1	94520758	94520758	+	Missense_Mutation	SNP	G	G	C	rs142186046	byFrequency	TCGA-AQ-A54N-01A-11D-A25Q-09	TCGA-AQ-A54N-10A-01D-A25Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	292a1557-bc2e-449c-9d24-0ce01b5b2d65	2a07d013-012c-492a-90c2-0fcfe94b1c63	g.chr1:94520758G>C	ENST00000370225.3	-	16	2582	c.2496C>G	c.(2494-2496)gaC>gaG	p.D832E	ABCA4_ENST00000535735.1_Missense_Mutation_p.D758E	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	832					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		AGCTGAATTCGTCCCCTTCCG	0.537																																						dbGAP											0													186.0	138.0	154.0					1																	94520758		2203	4300	6503	-	-	-	SO:0001583	missense	0			U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.2496C>G	1.37:g.94520758G>C	ENSP00000359245:p.Asp832Glu		O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt	p.D832E	ENST00000370225.3	37	c.2496	CCDS747.1	1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.940512	0.73557	.	.	ENSG00000198691	ENST00000370225;ENST00000535735	T;T	0.77229	-1.08;-1.08	5.41	-1.38	0.09027	.	0.000000	0.85682	D	0.000000	T	0.80491	0.4633	M	0.88241	2.94	0.29899	N	0.824587	D;P	0.56968	0.978;0.685	P;P	0.61132	0.884;0.604	T	0.78031	-0.2363	10	0.87932	D	0	.	10.4277	0.44389	0.635:0.0:0.365:0.0	.	758;832	F5H6E5;P78363	.;ABCA4_HUMAN	E	832;758	ENSP00000359245:D832E;ENSP00000437682:D758E	ENSP00000359245:D832E	D	-	3	2	ABCA4	94293346	0.007000	0.16637	0.993000	0.49108	0.985000	0.73830	-0.089000	0.11180	-0.277000	0.09193	-0.263000	0.10527	GAC	ABCA4	-	tigrfam_Rim_ABC_transpt	ENSG00000198691		0.537	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA4	HGNC	protein_coding	OTTHUMT00000029320.1	69	0.00	0	G	NM_000350		94520758	94520758	-1	no_errors	ENST00000370225	ensembl	human	known	69_37n	missense	24	33.33	12	SNP	0.996	C
ABCB1	5243	genome.wustl.edu	37	7	87179797	87179797	+	Missense_Mutation	SNP	C	C	T	rs201352027		TCGA-AQ-A54N-01A-11D-A25Q-09	TCGA-AQ-A54N-10A-01D-A25Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	292a1557-bc2e-449c-9d24-0ce01b5b2d65	2a07d013-012c-492a-90c2-0fcfe94b1c63	g.chr7:87179797C>T	ENST00000265724.3	-	12	1628	c.1211G>A	c.(1210-1212)cGa>cAa	p.R404Q	ABCB1_ENST00000543898.1_Missense_Mutation_p.R340Q	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	404	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			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)	AACTTCTTTTCGAGATGGGTA	0.323																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.1211G>A	7.37:g.87179797C>T	ENSP00000265724:p.Arg404Gln		A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	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.R404Q	ENST00000265724.3	37	c.1211	CCDS5608.1	7	.	.	.	.	.	.	.	.	.	.	C	33	5.282151	0.95489	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.90620	-2.7;-2.7	5.98	5.98	0.97165	ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.93288	0.7861	L	0.35249	1.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.989;0.997	D	0.93562	0.6896	10	0.87932	D	0	-10.4162	20.4496	0.99125	0.0:1.0:0.0:0.0	.	340;404	B5AK60;P08183	.;MDR1_HUMAN	Q	185;404;340	ENSP00000265724:R404Q;ENSP00000444095:R340Q	ENSP00000265724:R404Q	R	-	2	0	ABCB1	87017733	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.674000	0.68117	2.838000	0.97847	0.563000	0.77884	CGA	ABCB1	-	pfscan_ABC_transporter-like	ENSG00000085563		0.323	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB1	HGNC	protein_coding	OTTHUMT00000335444.2	54	0.00	0	C	NM_000927		87179797	87179797	-1	no_errors	ENST00000265724	ensembl	human	known	69_37n	missense	44	26.67	16	SNP	1.000	T
ABCD4	5826	genome.wustl.edu	37	14	74766252	74766252	+	Splice_Site	SNP	G	G	C	rs570985200		TCGA-AQ-A54N-01A-11D-A25Q-09	TCGA-AQ-A54N-10A-01D-A25Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	292a1557-bc2e-449c-9d24-0ce01b5b2d65	2a07d013-012c-492a-90c2-0fcfe94b1c63	g.chr14:74766252G>C	ENST00000356924.4	-	3	427	c.284C>G	c.(283-285)aCg>aGg	p.T95R	ABCD4_ENST00000298816.7_Splice_Site_p.T8R|ABCD4_ENST00000557554.1_5'UTR|ABCD4_ENST00000557588.1_Splice_Site_p.T95R	NM_005050.3	NP_005041.1	O14678	ABCD4_HUMAN	ATP-binding cassette, sub-family D (ALD), member 4	95	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cobalamin metabolic process (GO:0009235)|transmembrane transport (GO:0055085)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			cervix(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00153)		AGATCTTACCGTGGAGTTCAG	0.502																																						dbGAP											0													187.0	145.0	159.0					14																	74766252		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF009746	CCDS9828.1	14q24	2012-03-14			ENSG00000119688	ENSG00000119688		"""ATP binding cassette transporters / subfamily D"""	68	protein-coding gene	gene with protein product		603214		PXMP1L		9266848, 9302272	Standard	NR_003256		Approved	PMP69, P70R, EST352188	uc001xpr.2	O14678	OTTHUMG00000171207	ENST00000356924.4:c.285+1C>G	14.37:g.74766252G>C			A8K5L7|Q6IAQ0|Q96E75	Missense_Mutation	SNP	pfam_ABC_Ald_N,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.T95R	ENST00000356924.4	37	c.284	CCDS9828.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.58|17.58	3.425198|3.425198	0.62733|0.62733	.|.	.|.	ENSG00000119688|ENSG00000119688	ENST00000556971|ENST00000356924;ENST00000298816;ENST00000557588	.|D;D;D	.|0.99680	.|-3.44;-6.38;-3.44	5.8|5.8	2.83|2.83	0.33086|0.33086	.|ABC transporter, N-terminal (1);ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);	.|0.293803	.|0.41823	.|D	.|0.000801	D|D	0.98686|0.98686	0.9559|0.9559	M|M	0.65975|0.65975	2.015|2.015	0.58432|0.58432	D|D	0.999999|0.999999	.|P;B	.|0.43477	.|0.808;0.213	.|B;B	.|0.40285	.|0.308;0.325	D|D	0.96801|0.96801	0.9589|0.9589	5|10	.|0.29301	.|T	.|0.29	.|.	7.49|7.49	0.27456|0.27456	0.5057:0.0:0.4943:0.0|0.5057:0.0:0.4943:0.0	.|.	.|8;95	.|F8W7M4;O14678	.|.;ABCD4_HUMAN	G|R	55|95;8;95	.|ENSP00000349396:T95R;ENSP00000298816:T8R;ENSP00000451993:T95R	.|ENSP00000298816:T8R	R|T	-|-	1|2	0|0	ABCD4|ABCD4	73836005|73836005	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.976000|0.976000	0.68499|0.68499	2.520000|2.520000	0.45554|0.45554	0.286000|0.286000	0.22352|0.22352	-0.140000|-0.140000	0.14226|0.14226	CGC|ACG	ABCD4	-	pfam_ABC_Ald_N,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1	ENSG00000119688		0.502	ABCD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCD4	HGNC	protein_coding	OTTHUMT00000314382.1	51	0.00	0	G	NM_005050	Missense_Mutation	74766252	74766252	-1	no_errors	ENST00000356924	ensembl	human	known	69_37n	missense	6	83.78	31	SNP	1.000	C
ACAP2	23527	genome.wustl.edu	37	3	195063301	195063301	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AQ-A54N-01A-11D-A25Q-09	TCGA-AQ-A54N-10A-01D-A25Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	292a1557-bc2e-449c-9d24-0ce01b5b2d65	2a07d013-012c-492a-90c2-0fcfe94b1c63	g.chr3:195063301delG	ENST00000326793.6	-	6	657	c.427delC	c.(427-429)caafs	p.Q143fs		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	143	BAR.				cellular response to nerve growth factor stimulus (GO:1990090)|protein localization to endosome (GO:0036010)|regulation of ARF GTPase activity (GO:0032312)	endosome membrane (GO:0010008)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						CTTTGTACTTGGGCATTTTTT	0.348																																						dbGAP											0													221.0	200.0	208.0					3																	195063301		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0				CCDS33924.1	3q29	2013-01-10	2008-09-22	2008-09-22	ENSG00000114331	ENSG00000114331		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16469	protein-coding gene	gene with protein product		607766	"""centaurin, beta 2"""	CENTB2		11050434, 11062263	Standard	NM_012287		Approved	KIAA0041, CNT-B2	uc003fun.4	Q15057	OTTHUMG00000155885	ENST00000326793.6:c.427delC	3.37:g.195063301delG	ENSP00000324287:p.Gln143fs		A8K2V4|Q8N5Z8|Q9UQR3	Frame_Shift_Del	DEL	pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_ArfGAP,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP	p.Q143fs	ENST00000326793.6	37	c.427	CCDS33924.1	3																																																																																			ACAP2	-	NULL	ENSG00000114331		0.348	ACAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACAP2	HGNC	protein_coding	OTTHUMT00000342126.2	93	0.00	0	G	NM_012287		195063301	195063301	-1	no_errors	ENST00000326793	ensembl	human	known	69_37n	frame_shift_del	74	36.75	43	DEL	1.000	-
ACVR2A	92	genome.wustl.edu	37	2	148684693	148684693	+	Missense_Mutation	SNP	C	C	G			TCGA-AQ-A54N-01A-11D-A25Q-09	TCGA-AQ-A54N-10A-01D-A25Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	292a1557-bc2e-449c-9d24-0ce01b5b2d65	2a07d013-012c-492a-90c2-0fcfe94b1c63	g.chr2:148684693C>G	ENST00000241416.7	+	11	2028	c.1392C>G	c.(1390-1392)caC>caG	p.H464Q	ACVR2A_ENST00000535787.1_Missense_Mutation_p.H356Q|ACVR2A_ENST00000404590.1_Missense_Mutation_p.H464Q|ACVR2A_ENST00000495775.1_3'UTR	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	464	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|determination of left/right symmetry (GO:0007368)|embryonic skeletal system development (GO:0048706)|gastrulation with mouth forming second (GO:0001702)|mesoderm development (GO:0007498)|penile erection (GO:0043084)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of bone mineralization (GO:0030501)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|regulation of BMP signaling pathway (GO:0030510)|regulation of nitric-oxide synthase activity (GO:0050999)|Sertoli cell proliferation (GO:0060011)|sperm ejaculation (GO:0042713)|spermatogenesis (GO:0007283)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|coreceptor activity (GO:0015026)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		GTTGGGATCACGACGCAGAAG	0.408																																						dbGAP											0													117.0	110.0	112.0					2																	148684693		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33301.1, CCDS63030.1	2q22.2-q23.3	2008-02-05	2005-05-10	2005-05-10	ENSG00000121989	ENSG00000121989			173	protein-coding gene	gene with protein product		102581	"""activin A receptor, type II"""	ACVR2		1314589, 10702675	Standard	NM_001278579		Approved	ACTRII	uc002twh.3	P27037	OTTHUMG00000150603	ENST00000241416.7:c.1392C>G	2.37:g.148684693C>G	ENSP00000241416:p.His464Gln		B2RAB8|B4DWQ2|D3DP85|Q53TH4|Q6NWV2|Q92474	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Activin_II/TGFBeta-II_recpt	p.H464Q	ENST00000241416.7	37	c.1392	CCDS33301.1	2	.	.	.	.	.	.	.	.	.	.	C	15.04	2.714234	0.48622	.	.	ENSG00000121989	ENST00000241416;ENST00000535787;ENST00000404590	D;D;D	0.93189	-3.18;-3.18;-3.18	6.06	-9.96	0.00443	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.84419	0.5468	N	0.11724	0.165	0.80722	D	1	B	0.33198	0.401	B	0.33846	0.171	T	0.63782	-0.6559	10	0.36615	T	0.2	.	23.0175	0.99978	0.0:0.7965:0.0:0.2035	.	464	P27037	AVR2A_HUMAN	Q	464;356;464	ENSP00000241416:H464Q;ENSP00000439988:H356Q;ENSP00000384338:H464Q	ENSP00000241416:H464Q	H	+	3	2	ACVR2A	148401163	0.005000	0.15991	0.505000	0.27651	0.971000	0.66376	-0.981000	0.03766	-1.971000	0.01002	-1.314000	0.01303	CAC	ACVR2A	-	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,prints_Activin_II/TGFBeta-II_recpt	ENSG00000121989		0.408	ACVR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACVR2A	HGNC	protein_coding	OTTHUMT00000319051.1	60	0.00	0	C	NM_001616		148684693	148684693	+1	no_errors	ENST00000241416	ensembl	human	known	69_37n	missense	17	60.47	26	SNP	0.870	G
ADAM23	8745	genome.wustl.edu	37	2	207432046	207432046	+	Splice_Site	SNP	G	G	T			TCGA-AQ-A54N-01A-11D-A25Q-09	TCGA-AQ-A54N-10A-01D-A25Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	292a1557-bc2e-449c-9d24-0ce01b5b2d65	2a07d013-012c-492a-90c2-0fcfe94b1c63	g.chr2:207432046G>T	ENST00000264377.3	+	15	1822	c.1494G>T	c.(1492-1494)aaG>aaT	p.K498N	ADAM23_ENST00000374415.3_Splice_Site_p.K498N|ADAM23_ENST00000374416.1_Splice_Site_p.K498N	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	498					cell adhesion (GO:0007155)|central nervous system development (GO:0007417)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		GGCCAACAAAGGTTAGTAACT	0.413																																					Melanoma(194;1127 2130 19620 24042 27855)	dbGAP											0													58.0	58.0	58.0					2																	207432046		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AB009672	CCDS2369.1	2q33	2008-06-12	2005-08-18		ENSG00000114948	ENSG00000114948		"""ADAM metallopeptidase domain containing"""	202	protein-coding gene	gene with protein product		603710	"""a disintegrin and metalloproteinase domain 23"""			9693107	Standard	NM_003812		Approved	MDC3	uc002vbq.4	O75077	OTTHUMG00000132919	ENST00000264377.3:c.1494+1G>T	2.37:g.207432046G>T			A2RU59	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B	p.K498N	ENST00000264377.3	37	c.1494	CCDS2369.1	2	.	.	.	.	.	.	.	.	.	.	G	28.5	4.928227	0.92389	.	.	ENSG00000114948	ENST00000264377;ENST00000374416;ENST00000431817;ENST00000374415	T;T;T	0.02121	4.45;4.44;4.45	5.93	5.93	0.95920	Metallopeptidase, catalytic domain (1);	0.000000	0.64402	D	0.000003	T	0.14442	0.0349	M	0.77486	2.375	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.00054	-1.2184	10	0.46703	T	0.11	.	20.3396	0.98756	0.0:0.0:1.0:0.0	.	498	O75077	ADA23_HUMAN	N	498;498;392;498	ENSP00000264377:K498N;ENSP00000363537:K498N;ENSP00000363536:K498N	ENSP00000264377:K498N	K	+	3	2	ADAM23	207140291	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.085000	0.94083	2.812000	0.96745	0.555000	0.69702	AAG	ADAM23	-	NULL	ENSG00000114948		0.413	ADAM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADAM23	HGNC	protein_coding	OTTHUMT00000256431.2	40	0.00	0	G	NM_003812	Missense_Mutation	207432046	207432046	+1	no_errors	ENST00000264377	ensembl	human	known	69_37n	missense	35	10.26	4	SNP	1.000	T
ADAMTS2	9509	genome.wustl.edu	37	5	178549720	178549720	+	Missense_Mutation	SNP	C	C	T			TCGA-AQ-A54N-01A-11D-A25Q-09	TCGA-AQ-A54N-10A-01D-A25Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	292a1557-bc2e-449c-9d24-0ce01b5b2d65	2a07d013-012c-492a-90c2-0fcfe94b1c63	g.chr5:178549720C>T	ENST00000251582.7	-	20	3114	c.3013G>A	c.(3013-3015)Gcg>Acg	p.A1005T		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	1005	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CTGTCGTCCGCGGTGCGGCAG	0.687																																						dbGAP											0													21.0	20.0	20.0					5																	178549720		2143	4220	6363	-	-	-	SO:0001583	missense	0			AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	218	protein-coding gene	gene with protein product	"""procollagen I N-proteinase"", ""procollagen N-endopeptidase"""	604539	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"""			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.3013G>A	5.37:g.178549720C>T	ENSP00000251582:p.Ala1005Thr			Missense_Mutation	SNP	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Pept_M12B_ADAM-TS2,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B	p.A1005T	ENST00000251582.7	37	c.3013	CCDS4444.1	5	.	.	.	.	.	.	.	.	.	.	C	8.684	0.905778	0.17760	.	.	ENSG00000087116	ENST00000251582	T	0.51574	0.7	4.72	-5.96	0.02234	.	1.259200	0.05565	N	0.570113	T	0.21962	0.0529	N	0.16037	0.36	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.10497	-1.0627	10	0.30078	T	0.28	.	0.5753	0.00702	0.1945:0.241:0.2105:0.354	.	1005	O95450	ATS2_HUMAN	T	1005	ENSP00000251582:A1005T	ENSP00000251582:A1005T	A	-	1	0	ADAMTS2	178482326	0.000000	0.05858	0.000000	0.03702	0.547000	0.35210	-1.902000	0.01596	-0.850000	0.04152	-0.258000	0.10820	GCG	ADAMTS2	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000087116		0.687	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS2	HGNC	protein_coding	OTTHUMT00000253507.1	51	0.00	0	C	NM_014244		178549720	178549720	-1	no_errors	ENST00000251582	ensembl	human	known	69_37n	missense	4	75.00	12	SNP	0.000	T
ADRA1A	148	genome.wustl.edu	37	8	26722331	26722331	+	Silent	SNP	G	G	T			TCGA-AQ-A54N-01A-11D-A25Q-09	TCGA-AQ-A54N-10A-01D-A25Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	292a1557-bc2e-449c-9d24-0ce01b5b2d65	2a07d013-012c-492a-90c2-0fcfe94b1c63	g.chr8:26722331G>T	ENST00000519229.1	-	1	162	c.156C>A	c.(154-156)gcC>gcA	p.A52A	ADRA1A_ENST00000380572.3_Silent_p.A52A|ADRA1A_ENST00000358857.5_Silent_p.A52A|ADRA1A_ENST00000354550.4_Silent_p.A52A|ADRA1A_ENST00000380573.3_Silent_p.A52A|ADRA1A_ENST00000380581.2_Silent_p.A52A|ADRA1A_ENST00000380587.1_Silent_p.A52A|ADRA1A_ENST00000380586.1_Silent_p.A52A|ADRA1A_ENST00000276393.4_Silent_p.A52A|ADRA1A_ENST00000380582.3_Silent_p.A52A			P25100	ADA1D_HUMAN	adrenoceptor alpha 1A	122				MTFRDLLSVSFEGPRPDSSAGGSSAGGGGGSAGGAAPSEGP AVGGVPGGAGGGGGVVGAGSGEDNRSSAGEPGSAGAGGDVN G -> MAAALRSVMMAGYLSEWRTPTYRSTEMVQRLRMEAV QHSTS (in Ref. 1). {ECO:0000305}.	adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|DNA metabolic process (GO:0006259)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of the force of heart contraction involved in baroreceptor response to increased systemic arterial blood pressure (GO:0001986)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Dapiprazole(DB00298)|Desipramine(DB01151)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Oxymetazoline(DB00935)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Xylometazoline(DB06694)	GTCGGTGACAGGCTACGGAGA	0.592																																						dbGAP											0													253.0	265.0	261.0					8																	26722331		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L31774	CCDS6052.1, CCDS6053.1, CCDS6054.1, CCDS34869.1	8p21.2	2012-08-08	2012-05-09		ENSG00000120907	ENSG00000120907		"""GPCR / Class A : Adrenoceptors : alpha"""	277	protein-coding gene	gene with protein product		104221	"""adrenergic, alpha-1A-, receptor"""	ADRA1C			Standard	NM_033303		Approved	ADRA1L1	uc003xfh.1	P35348	OTTHUMG00000099459	ENST00000519229.1:c.156C>A	8.37:g.26722331G>T			Q9NPY0	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Adrene_rcpt_A1Cs,prints_7TM_GPCR_Rhodpsn,prints_Adrnrgc_rcpt	p.A52	ENST00000519229.1	37	c.156		8																																																																																			ADRA1A	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000120907		0.592	ADRA1A-009	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	ADRA1A	HGNC	protein_coding	OTTHUMT00000376207.1	50	0.00	0	G	NM_033303		26722331	26722331	-1	no_errors	ENST00000380586	ensembl	human	known	69_37n	silent	22	50.00	22	SNP	1.000	T
ANKRD12	23253	genome.wustl.edu	37	18	9182463	9182463	+	Silent	SNP	G	G	A			TCGA-AQ-A54N-01A-11D-A25Q-09	TCGA-AQ-A54N-10A-01D-A25Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	292a1557-bc2e-449c-9d24-0ce01b5b2d65	2a07d013-012c-492a-90c2-0fcfe94b1c63	g.chr18:9182463G>A	ENST00000262126.4	+	2	273	c.33G>A	c.(31-33)caG>caA	p.Q11Q	ANKRD12_ENST00000383440.2_Silent_p.Q11Q|ANKRD12_ENST00000540578.2_3'UTR|RP11-21J18.1_ENST00000579126.1_RNA|ANKRD12_ENST00000400020.3_Silent_p.Q11Q	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	11						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						AACCAATTCAGAGTGAAAATT	0.348																																						dbGAP											0													68.0	68.0	68.0					18																	9182463		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"""Ankyrin repeat domain containing"""	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.33G>A	18.37:g.9182463G>A			O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.Q11	ENST00000262126.4	37	c.33	CCDS11843.1	18																																																																																			ANKRD12	-	NULL	ENSG00000101745		0.348	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD12	HGNC	protein_coding	OTTHUMT00000254478.2	38	0.00	0	G	NM_015208		9182463	9182463	+1	no_errors	ENST00000262126	ensembl	human	known	69_37n	silent	23	37.84	14	SNP	1.000	A
ANKRD35	148741	genome.wustl.edu	37	1	145562187	145562187	+	Missense_Mutation	SNP	T	T	A			TCGA-AQ-A54N-01A-11D-A25Q-09	TCGA-AQ-A54N-10A-01D-A25Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	292a1557-bc2e-449c-9d24-0ce01b5b2d65	2a07d013-012c-492a-90c2-0fcfe94b1c63	g.chr1:145562187T>A	ENST00000355594.4	+	10	1962	c.1875T>A	c.(1873-1875)agT>agA	p.S625R		NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	625										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGAGCAACAGTAACTTGCTGG	0.612																																					Melanoma(9;127 754 22988 51047)	dbGAP											0													46.0	52.0	50.0					1																	145562187		2203	4299	6502	-	-	-	SO:0001583	missense	0			AK091120	CCDS72867.1, CCDS72868.1	1q21.1	2013-01-10			ENSG00000198483	ENSG00000198483		"""Ankyrin repeat domain containing"""	26323	protein-coding gene	gene with protein product							Standard	NM_144698		Approved	FLJ25124	uc001eob.1	Q8N283	OTTHUMG00000013743	ENST00000355594.4:c.1875T>A	1.37:g.145562187T>A	ENSP00000347802:p.Ser625Arg		A6NEU0|B4DL62|Q3MJ10|Q96LS3	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.S625R	ENST00000355594.4	37	c.1875	CCDS919.1	1	.	.	.	.	.	.	.	.	.	.	T	14.75	2.629052	0.46944	.	.	ENSG00000198483	ENST00000453670;ENST00000355594	T	0.53857	0.6	4.6	-2.58	0.06228	.	0.371810	0.22821	N	0.055228	T	0.25938	0.0632	M	0.65975	2.015	0.80722	D	1	P	0.41313	0.745	B	0.36418	0.224	T	0.22765	-1.0207	10	0.24483	T	0.36	-3.2641	11.0633	0.47961	0.0:0.6924:0.0:0.3076	.	625	Q8N283	ANR35_HUMAN	R	534;625	ENSP00000347802:S625R	ENSP00000347802:S625R	S	+	3	2	ANKRD35	144273544	0.823000	0.29233	0.943000	0.38184	0.984000	0.73092	-0.499000	0.06413	-0.684000	0.05183	0.460000	0.39030	AGT	ANKRD35	-	NULL	ENSG00000198483		0.612	ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD35	HGNC	protein_coding	OTTHUMT00000038515.1	47	0.00	0	T	NM_144698		145562187	145562187	+1	no_errors	ENST00000355594	ensembl	human	known	69_37n	missense	74	17.78	16	SNP	0.984	A
BCOR	54880	genome.wustl.edu	37	X	39922163	39922163	+	Nonsense_Mutation	SNP	C	C	A	rs370685925		TCGA-AQ-A54N-01A-11D-A25Q-09	TCGA-AQ-A54N-10A-01D-A25Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	292a1557-bc2e-449c-9d24-0ce01b5b2d65	2a07d013-012c-492a-90c2-0fcfe94b1c63	g.chrX:39922163C>A	ENST00000378444.4	-	9	4237	c.4009G>T	c.(4009-4011)Gaa>Taa	p.E1337*	BCOR_ENST00000397354.3_Nonsense_Mutation_p.E1303*|BCOR_ENST00000342274.4_Nonsense_Mutation_p.E1303*|BCOR_ENST00000378463.1_Nonsense_Mutation_p.E180*|BCOR_ENST00000378455.4_Nonsense_Mutation_p.E1285*	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1337					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TCCTCTTCTTCGTCTGCACAC	0.532			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																															dbGAP		Rec	yes		X	Xp11.4	54880	BCL6 corepressor	yes		0													141.0	112.0	121.0					X																	39922163		2202	4300	6502	-	-	-	SO:0001587	stop_gained	0			AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.4009G>T	X.37:g.39922163C>A	ENSP00000367705:p.Glu1337*		D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.E1337*	ENST00000378444.4	37	c.4009	CCDS48093.1	X	.	.	.	.	.	.	.	.	.	.	C	45	11.583240	0.99579	.	.	ENSG00000183337	ENST00000413905;ENST00000378463;ENST00000378455;ENST00000397354;ENST00000378444;ENST00000342274;ENST00000442018	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-10.0684	18.7655	0.91871	0.0:1.0:0.0:0.0	.	.	.	.	X	207;180;1285;1303;1337;1303;10	.	ENSP00000345923:E1303X	E	-	1	0	BCOR	39807107	1.000000	0.71417	0.350000	0.25708	0.966000	0.64601	3.518000	0.53451	2.376000	0.81061	0.600000	0.82982	GAA	BCOR	-	NULL	ENSG00000183337		0.532	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCOR	HGNC	protein_coding	OTTHUMT00000060666.2	164	0.00	0	C	NM_017745		39922163	39922163	-1	no_errors	ENST00000378444	ensembl	human	known	69_37n	nonsense	67	56.49	87	SNP	1.000	A
CCDC186	55088	genome.wustl.edu	37	10	115887422	115887422	+	Missense_Mutation	SNP	T	T	A			TCGA-AQ-A54N-01A-11D-A25Q-09	TCGA-AQ-A54N-10A-01D-A25Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	292a1557-bc2e-449c-9d24-0ce01b5b2d65	2a07d013-012c-492a-90c2-0fcfe94b1c63	g.chr10:115887422T>A	ENST00000369287.3	-	14	2457	c.2191A>T	c.(2191-2193)Aat>Tat	p.N731Y	C10orf118_ENST00000497592.1_5'Flank|C10orf118_ENST00000543782.1_Missense_Mutation_p.N329Y	NM_018017.2	NP_060487.2	Q7Z3E2	CC186_HUMAN		731	Ser-rich.									NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		CTTCGAGCATTCAGGGACCCT	0.388																																						dbGAP											0													79.0	72.0	74.0					10																	115887422		2203	4300	6503	-	-	-	SO:0001583	missense	0																														ENST00000369287.3:c.2191A>T	10.37:g.115887422T>A	ENSP00000358293:p.Asn731Tyr		Q2M2V6|Q3ZB81|Q6NS91|Q7RTP1|Q8N117|Q8N3G3|Q8N6C2|Q9NWA3	Missense_Mutation	SNP	superfamily_Prefoldin	p.N731Y	ENST00000369287.3	37	c.2191	CCDS7587.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.2|21.2	4.121016|4.121016	0.77436|0.77436	.|.	.|.	ENSG00000165813|ENSG00000165813	ENST00000428953|ENST00000369287;ENST00000543782;ENST00000430353	.|T	.|0.27557	.|1.66	4.89|4.89	4.89|4.89	0.63831|0.63831	.|.	.|0.048678	.|0.85682	.|D	.|0.000000	T|T	0.52996|0.52996	0.1769|0.1769	M|M	0.71581|0.71581	2.175|2.175	0.51482|0.51482	D|D	0.999929|0.999929	.|D;D	.|0.76494	.|0.994;0.999	.|P;D	.|0.70935	.|0.878;0.971	T|T	0.57894|0.57894	-0.7732|-0.7732	5|10	.|0.87932	.|D	.|0	.|.	13.1396|13.1396	0.59428|0.59428	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|329;731	.|F6VCB7;Q7Z3E2	.|.;CJ118_HUMAN	V|Y	359|731;329;837	.|ENSP00000358293:N731Y	.|ENSP00000358293:N731Y	E|N	-|-	2|1	0|0	C10orf118|C10orf118	115877412|115877412	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.957000|0.957000	0.61999|0.61999	7.809000|7.809000	0.86057|0.86057	1.826000|1.826000	0.53198|0.53198	0.449000|0.449000	0.29647|0.29647	GAA|AAT	C10orf118	-	NULL	ENSG00000165813		0.388	C10orf118-006	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf118	HGNC	protein_coding	OTTHUMT00000050455.1	26	0.00	0	T			115887422	115887422	-1	no_errors	ENST00000369287	ensembl	human	known	69_37n	missense	46	20.69	12	SNP	1.000	A
C16orf95	100506581	genome.wustl.edu	37	16	87350773	87350773	+	Missense_Mutation	SNP	C	C	A	rs3748393	byFrequency	TCGA-AQ-A54N-01A-11D-A25Q-09	TCGA-AQ-A54N-10A-01D-A25Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	292a1557-bc2e-449c-9d24-0ce01b5b2d65	2a07d013-012c-492a-90c2-0fcfe94b1c63	g.chr16:87350773C>A	ENST00000253461.4	-	1	249	c.76G>T	c.(76-78)Gct>Tct	p.A26S	RP11-178L8.4_ENST00000568879.1_Intron|C16orf95_ENST00000567970.1_Missense_Mutation_p.A26S|RP11-178L8.7_ENST00000602282.1_RNA|snoU13_ENST00000459533.1_RNA	NM_001195125.1|NM_001256917.1	NP_001182054.1|NP_001243846.1	Q9H693	CP095_HUMAN	chromosome 16 open reading frame 95	26																	ccggcAGCAGCGCCTGAGGCT	0.692													C|||	2101	0.419529	0.236	0.4395	5008	,	,		13742	0.6339		0.334	False		,,,				2504	0.5204					dbGAP											0																																										-	-	-	SO:0001583	missense	0				CCDS54049.1, CCDS58491.1, CCDS73921.1	16q24.2	2012-10-10			ENSG00000260456	ENSG00000260456			40033	protein-coding gene	gene with protein product							Standard	NM_001195124		Approved		uc021tmh.1	Q9H693	OTTHUMG00000175680	ENST00000253461.4:c.76G>T	16.37:g.87350773C>A	ENSP00000253461:p.Ala26Ser			Missense_Mutation	SNP	NULL	p.A26S	ENST00000253461.4	37	c.76	CCDS54049.1	16	877	0.4015567765567766	109	0.22154471544715448	160	0.4419889502762431	350	0.6118881118881119	258	0.3403693931398417	C	13.48	2.250221	0.39797	.	.	ENSG00000131152	ENST00000253461	.	.	.	2.52	-3.2	0.05156	.	.	.	.	.	T	0.00012	0.0000	N	0.19112	0.55	0.22468	P	0.999073	B	0.33583	0.418	B	0.24155	0.051	T	0.42413	-0.9453	7	0.87932	D	0	.	3.1421	0.06460	0.1949:0.4119:0.0:0.3932	rs3748393;rs3748393	26	Q9H693	CP095_HUMAN	S	26	.	ENSP00000253461:A26S	A	-	1	0	C16orf95	85908274	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	-1.225000	0.02956	-0.788000	0.04504	-0.291000	0.09656	GCT	C16orf95	-	NULL	ENSG00000260456		0.692	C16orf95-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	C16orf95	Clone_based_vega_gene	protein_coding	OTTHUMT00000430790.1	114	0.00	0	C	NM_001195124		87350773	87350773	-1	no_errors	ENST00000567970	ensembl	human	known	69_37n	missense	43	10.42	5	SNP	0.001	A
C17orf62	79415	genome.wustl.edu	37	17	80401650	80401650	+	3'UTR	SNP	C	C	T	rs113066339	byFrequency	TCGA-AQ-A54N-01A-11D-A25Q-09	TCGA-AQ-A54N-10A-01D-A25Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	292a1557-bc2e-449c-9d24-0ce01b5b2d65	2a07d013-012c-492a-90c2-0fcfe94b1c63	g.chr17:80401650C>T	ENST00000437807.2	-	0	1111				C17orf62_ENST00000583617.1_Silent_p.R164R|C17orf62_ENST00000342572.8_3'UTR|C17orf62_ENST00000583359.1_5'Flank|C17orf62_ENST00000306645.5_3'UTR|C17orf62_ENST00000434650.2_3'UTR|C17orf62_ENST00000577436.1_3'UTR|C17orf62_ENST00000336995.7_Missense_Mutation_p.D117N	NM_001193653.1|NM_001193657.1	NP_001180582.1|NP_001180586.1	Q9BQA9	CQ062_HUMAN	chromosome 17 open reading frame 62							integral component of membrane (GO:0016021)				breast(2)|large_intestine(2)|skin(2)|urinary_tract(2)	8	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			GGCCACGGGTCCTGTGGGCGG	0.652													C|||	306	0.0611022	0.1558	0.0735	5008	,	,		17027	0.0		0.0318	False		,,,				2504	0.0174					dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AK074950	CCDS32776.1, CCDS45817.1	17q25.3	2014-06-09			ENSG00000178927	ENSG00000178927			28672	protein-coding gene	gene with protein product							Standard	NM_001100407		Approved	MGC4368, FLJ90469	uc021ufr.1	Q9BQA9		ENST00000437807.2:c.*230G>A	17.37:g.80401650C>T			E1B6X3|Q96NR1	Missense_Mutation	SNP	NULL	p.D117N	ENST00000437807.2	37	c.349	CCDS32776.1	17	112	0.05128205128205128	60	0.12195121951219512	28	0.07734806629834254	0	0.0	24	0.0316622691292876	C	10.70	1.425431	0.25639	.	.	ENSG00000178927	ENST00000342572;ENST00000536759;ENST00000336995	.	.	.	1.94	-3.89	0.04193	.	.	.	.	.	T	0.00300	0.0009	.	.	.	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.18777	-1.0326	6	0.21540	T	0.41	.	5.2824	0.15682	0.0:0.6284:0.2032:0.1684	.	155	Q8NEZ9	.	N	155;122;117	.	ENSP00000337560:D117N	D	-	1	0	C17orf62	77994939	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	-3.006000	0.00650	-0.979000	0.03529	-1.834000	0.00590	GAC	C17orf62	-	NULL	ENSG00000178927		0.652	C17orf62-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C17orf62	HGNC	protein_coding	OTTHUMT00000443260.1	103	0.00	0	C	NM_001033046		80401650	80401650	-1	no_errors	ENST00000336995	ensembl	human	known	69_37n	missense	27	12.90	4	SNP	0.000	T
NOL4L	140688	genome.wustl.edu	37	20	31040091	31040091	+	Missense_Mutation	SNP	C	C	G	rs75184133	byFrequency	TCGA-AQ-A54N-01A-11D-A25Q-09	TCGA-AQ-A54N-10A-01D-A25Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	292a1557-bc2e-449c-9d24-0ce01b5b2d65	2a07d013-012c-492a-90c2-0fcfe94b1c63	g.chr20:31040091C>G	ENST00000359676.5	-	7	1180	c.1038G>C	c.(1036-1038)ttG>ttC	p.L346F	C20orf112_ENST00000475781.1_5'Flank|RP5-1184F4.5_ENST00000442179.1_RNA	NM_001256798.1|NM_080616.4	NP_001243727.1|NP_542183.2	Q96MY1	NOL4L_HUMAN		346						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|kidney(2)|large_intestine(5)|lung(5)	15						GGTTGCTGCTCAAGGCCCCGT	0.637																																						dbGAP											0													108.0	97.0	100.0					20																	31040091		2203	4300	6503	-	-	-	SO:0001583	missense	0																														ENST00000359676.5:c.1038G>C	20.37:g.31040091C>G	ENSP00000352704:p.Leu346Phe		Q5JYB7|Q6P0Y4|Q9BR34|Q9NQF6	Missense_Mutation	SNP	NULL	p.L346F	ENST00000359676.5	37	c.1038	CCDS13202.1	20	.	.	.	.	.	.	.	.	.	.	C	18.44	3.624004	0.66901	.	.	ENSG00000197183	ENST00000359676;ENST00000397984	.	.	.	4.66	4.66	0.58398	.	0.089188	0.46758	D	0.000270	T	0.46964	0.1420	L	0.39898	1.24	0.80722	D	1	D	0.53745	0.962	P	0.46825	0.528	T	0.30822	-0.9965	9	0.13470	T	0.59	.	14.42	0.67177	0.0:1.0:0.0:0.0	.	346	Q96MY1	CT112_HUMAN	F	346	.	ENSP00000352704:L346F	L	-	3	2	C20orf112	30503752	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.246000	0.32803	2.423000	0.82170	0.561000	0.74099	TTG	C20orf112	-	NULL	ENSG00000197183		0.637	C20orf112-001	KNOWN	basic|CCDS	protein_coding	C20orf112	HGNC	protein_coding	OTTHUMT00000078628.2	88	0.00	0	C			31040091	31040091	-1	no_errors	ENST00000359676	ensembl	human	known	69_37n	missense	46	14.81	8	SNP	1.000	G
C3orf49	132200	genome.wustl.edu	37	3	63817430	63817430	+	Missense_Mutation	SNP	G	G	C	rs2291533	byFrequency	TCGA-AQ-A54N-01A-11D-A25Q-09	TCGA-AQ-A54N-10A-01D-A25Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	292a1557-bc2e-449c-9d24-0ce01b5b2d65	2a07d013-012c-492a-90c2-0fcfe94b1c63	g.chr3:63817430G>C	ENST00000295896.8	+	5	869	c.759G>C	c.(757-759)caG>caC	p.Q253H				Q96BT1	CC049_HUMAN	chromosome 3 open reading frame 49	253										breast(2)	2						AGCTTCAACAGTGTGAGTTTC	0.388													G|||	742	0.148163	0.0734	0.2176	5008	,	,		17888	0.1458		0.2008	False		,,,				2504	0.1483					dbGAP											0																																										-	-	-	SO:0001583	missense	0			BC015210		3p14.1	2013-01-15			ENSG00000163632	ENSG00000163632			25190	other	unknown						12477932	Standard	NR_026866		Approved		uc003dls.4	Q96BT1	OTTHUMG00000158761	ENST00000295896.8:c.759G>C	3.37:g.63817430G>C	ENSP00000295896:p.Gln253His			Missense_Mutation	SNP	NULL	p.Q253H	ENST00000295896.8	37	c.759		3	353	0.16163003663003664	28	0.056910569105691054	75	0.20718232044198895	97	0.16958041958041958	153	0.20184696569920843	G	10.98	1.505205	0.26949	.	.	ENSG00000163632	ENST00000295896	.	.	.	6.16	1.05	0.20165	.	0.367200	0.25747	N	0.028563	T	0.00039	0.0001	.	.	.	0.42351	P	0.007624999999999993	B	0.06786	0.001	B	0.09377	0.004	T	0.09422	-1.0675	7	0.66056	D	0.02	-2.4719	9.0832	0.36565	0.1313:0.3622:0.5065:0.0	rs2291533;rs17655796;rs56495918;rs2291533	253	Q96BT1	CC049_HUMAN	H	253	.	ENSP00000295896:Q253H	Q	+	3	2	C3orf49	63792470	1.000000	0.71417	0.999000	0.59377	0.921000	0.55340	0.279000	0.18771	0.455000	0.26910	0.650000	0.86243	CAG	C3orf49	-	NULL	ENSG00000163632		0.388	C3orf49-001	KNOWN	basic|appris_principal	protein_coding	C3orf49	HGNC	protein_coding	OTTHUMT00000352067.1	56	0.00	0	G	NR_026866		63817430	63817430	+1	no_errors	ENST00000295896	ensembl	human	known	69_37n	missense	27	12.90	4	SNP	1.000	C
C5orf42	65250	genome.wustl.edu	37	5	37142576	37142576	+	Missense_Mutation	SNP	A	A	C			TCGA-AQ-A54N-01A-11D-A25Q-09	TCGA-AQ-A54N-10A-01D-A25Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	292a1557-bc2e-449c-9d24-0ce01b5b2d65	2a07d013-012c-492a-90c2-0fcfe94b1c63	g.chr5:37142576A>C	ENST00000508244.1	-	42	8399	c.8306T>G	c.(8305-8307)tTt>tGt	p.F2769C	C5orf42_ENST00000425232.2_Missense_Mutation_p.F2769C|C5orf42_ENST00000274258.7_Missense_Mutation_p.F1667C|C5orf42_ENST00000512288.1_5'UTR			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	2769						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			ATGGGTCAAAAAACGCACTAA	0.338																																						dbGAP											0													65.0	66.0	65.0					5																	37142576		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.8306T>G	5.37:g.37142576A>C	ENSP00000421690:p.Phe2769Cys		A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	superfamily_Quino_amine_DH_bsu	p.F2769C	ENST00000508244.1	37	c.8306	CCDS34146.2	5	.	.	.	.	.	.	.	.	.	.	A	14.82	2.649729	0.47362	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.24350	1.86;1.86;1.86;1.86	5.71	1.82	0.25136	.	0.979280	0.08318	N	0.964318	T	0.33527	0.0866	L	0.48642	1.525	0.09310	N	1	D;D	0.67145	0.996;0.996	P;P	0.59288	0.855;0.855	T	0.19516	-1.0303	10	0.51188	T	0.08	.	2.8508	0.05556	0.6125:0.0:0.2023:0.1852	.	2769;1667	E9PH94;Q9H799	.;CE042_HUMAN	C	2769;2769;1667;1835;1703	ENSP00000421690:F2769C;ENSP00000389014:F2769C;ENSP00000274258:F1667C;ENSP00000424223:F1835C	ENSP00000274258:F1667C	F	-	2	0	C5orf42	37178333	0.080000	0.21391	0.007000	0.13788	0.070000	0.16714	1.207000	0.32333	0.983000	0.38602	-0.290000	0.09829	TTT	C5orf42	-	NULL	ENSG00000197603		0.338	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	C5orf42	HGNC	protein_coding	OTTHUMT00000360806.1	18	0.00	0	A	NM_023073		37142576	37142576	-1	no_errors	ENST00000425232	ensembl	human	known	69_37n	missense	17	26.09	6	SNP	0.002	C
C9orf84	158401	genome.wustl.edu	37	9	114543270	114543270	+	Missense_Mutation	SNP	G	G	T			TCGA-AQ-A54N-01A-11D-A25Q-09	TCGA-AQ-A54N-10A-01D-A25Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	292a1557-bc2e-449c-9d24-0ce01b5b2d65	2a07d013-012c-492a-90c2-0fcfe94b1c63	g.chr9:114543270G>T	ENST00000318737.4	-	2	133	c.5C>A	c.(4-6)aCa>aAa	p.T2K	C9orf84_ENST00000374283.5_Missense_Mutation_p.T66K|C9orf84_ENST00000374287.3_Missense_Mutation_p.T2K	NM_173521.3	NP_775792.3	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	2										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TGAGGTATCTGTCATTCCCGG	0.348																																						dbGAP											0													82.0	81.0	82.0					9																	114543270		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL833535	CCDS6781.3, CCDS43863.1	9q32	2012-03-16			ENSG00000165181	ENSG00000165181			26535	protein-coding gene	gene with protein product							Standard	XM_005251738		Approved	FLJ32779	uc004bfr.3	Q5VXU9	OTTHUMG00000020495	ENST00000318737.4:c.5C>A	9.37:g.114543270G>T	ENSP00000322108:p.Thr2Lys		A2A2V3|Q2M1H8|Q96M73	Missense_Mutation	SNP	superfamily_RuvA_2-like	p.T2K	ENST00000318737.4	37	c.5	CCDS6781.3	9	.	.	.	.	.	.	.	.	.	.	G	4.137	0.023766	0.08006	.	.	ENSG00000165181	ENST00000374287;ENST00000318737;ENST00000374283	T;T;T	0.39997	3.76;3.76;1.05	4.7	1.5	0.22942	.	0.391878	0.18821	N	0.130257	T	0.27697	0.0681	L	0.27053	0.805	0.09310	N	1	P;B	0.35348	0.496;0.194	B;B	0.34489	0.184;0.082	T	0.12553	-1.0543	10	0.44086	T	0.13	-1.0398	10.1939	0.43043	0.0:0.0:0.4447:0.5553	.	66;2	Q5VXU9-2;Q5VXU9	.;CI084_HUMAN	K	2;2;66	ENSP00000363405:T2K;ENSP00000322108:T2K;ENSP00000363401:T66K	ENSP00000322108:T2K	T	-	2	0	C9orf84	113583091	0.079000	0.21365	0.012000	0.15200	0.140000	0.21249	0.870000	0.28010	0.557000	0.29117	0.585000	0.79938	ACA	C9orf84	-	NULL	ENSG00000165181		0.348	C9orf84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C9orf84	HGNC	protein_coding	OTTHUMT00000053656.2	37	0.00	0	G	NM_173521		114543270	114543270	-1	no_errors	ENST00000318737	ensembl	human	known	69_37n	missense	20	13.04	3	SNP	0.004	T
CALCOCO1	57658	genome.wustl.edu	37	12	54109767	54109767	+	Missense_Mutation	SNP	T	T	G			TCGA-AQ-A54N-01A-11D-A25Q-09	TCGA-AQ-A54N-10A-01D-A25Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	292a1557-bc2e-449c-9d24-0ce01b5b2d65	2a07d013-012c-492a-90c2-0fcfe94b1c63	g.chr12:54109767T>G	ENST00000550804.1	-	9	1130	c.1070A>C	c.(1069-1071)cAg>cCg	p.Q357P	CALCOCO1_ENST00000262059.4_Missense_Mutation_p.Q357P|CALCOCO1_ENST00000430117.2_Missense_Mutation_p.Q272P|CALCOCO1_ENST00000548263.1_Missense_Mutation_p.Q357P			Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1	357					intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						GGTGGCTTTCTGCTGGCTTGA	0.612																																						dbGAP											0													43.0	45.0	45.0					12																	54109767		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL136895	CCDS8864.1, CCDS44908.1	12q13.13	2014-01-02			ENSG00000012822	ENSG00000012822			29306	protein-coding gene	gene with protein product	"""coiled-coil leucine zipper coactivator 1"", ""inorganic pyrophosphatase activator"""					10819331, 11230166	Standard	NM_020898		Approved	KIAA1536, calphoglin, Cocoa	uc001sef.3	Q9P1Z2	OTTHUMG00000170095	ENST00000550804.1:c.1070A>C	12.37:g.54109767T>G	ENSP00000449960:p.Gln357Pro		B3KVA8|Q6FI59|Q71RC3|Q86WF8|Q96JU3|Q9H090	Missense_Mutation	SNP	pfam_CoCoA	p.Q357P	ENST00000550804.1	37	c.1070	CCDS8864.1	12	.	.	.	.	.	.	.	.	.	.	T	20.7	4.031680	0.75504	.	.	ENSG00000012822	ENST00000342760;ENST00000430117;ENST00000262059;ENST00000413257;ENST00000548263;ENST00000550804;ENST00000549935	T;T;T;T	0.12147	2.71;2.71;2.71;2.71	4.92	4.92	0.64577	.	0.000000	0.42172	D	0.000758	T	0.35335	0.0928	M	0.67397	2.05	0.40392	D	0.979554	D;D;D;D;D;D	0.76494	0.999;0.996;0.999;0.994;0.996;0.999	D;D;D;D;D;D	0.83275	0.996;0.992;0.994;0.986;0.992;0.996	T	0.13710	-1.0499	10	0.72032	D	0.01	-24.4103	13.9895	0.64357	0.0:0.0:0.0:1.0	.	350;272;357;357;272;357	B4DG60;E9PAU0;Q9P1Z2-3;Q9P1Z2-2;E7EPK7;Q9P1Z2	.;.;.;.;.;CACO1_HUMAN	P	34;272;357;295;357;357;350	ENSP00000397189:Q272P;ENSP00000262059:Q357P;ENSP00000447647:Q357P;ENSP00000449960:Q357P	ENSP00000262059:Q357P	Q	-	2	0	CALCOCO1	52396034	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.374000	0.44274	2.200000	0.70718	0.459000	0.35465	CAG	CALCOCO1	-	pfam_CoCoA	ENSG00000012822		0.612	CALCOCO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CALCOCO1	HGNC	protein_coding	OTTHUMT00000407233.2	66	0.00	0	T	NM_020898		54109767	54109767	-1	no_errors	ENST00000550804	ensembl	human	known	69_37n	missense	54	14.29	9	SNP	1.000	G
CCDC74A	90557	genome.wustl.edu	37	2	132285769	132285769	+	Missense_Mutation	SNP	G	G	C			TCGA-AQ-A54N-01A-11D-A25Q-09	TCGA-AQ-A54N-10A-01D-A25Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	292a1557-bc2e-449c-9d24-0ce01b5b2d65	2a07d013-012c-492a-90c2-0fcfe94b1c63	g.chr2:132285769G>C	ENST00000295171.6	+	1	364	c.226G>C	c.(226-228)Gag>Cag	p.E76Q	CCDC74A_ENST00000409856.3_Missense_Mutation_p.E76Q|CCDC74A_ENST00000467992.2_5'Flank|CCDC74A_ENST00000478665.1_3'UTR	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	76										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						TGAGGAGATCGAGCATCTGAA	0.637																																						dbGAP											0													27.0	27.0	27.0					2																	132285769		2203	4296	6499	-	-	-	SO:0001583	missense	0				CCDS2167.1, CCDS58732.1, CCDS74578.1	2q21.1	2008-02-05		2006-02-16	ENSG00000163040	ENSG00000163040			25197	protein-coding gene	gene with protein product						12477932	Standard	NM_138770		Approved	FLJ40345	uc002ttb.4	Q96AQ1	OTTHUMG00000131667	ENST00000295171.6:c.226G>C	2.37:g.132285769G>C	ENSP00000295171:p.Glu76Gln		Q6P4I5	Missense_Mutation	SNP	NULL	p.E76Q	ENST00000295171.6	37	c.226	CCDS2167.1	2	.	.	.	.	.	.	.	.	.	.	.	14.89	2.668975	0.47677	.	.	ENSG00000163040	ENST00000295171;ENST00000409856	T;T	0.53206	0.63;0.63	2.79	2.79	0.32731	.	0.000000	0.52532	U	0.000078	T	0.58821	0.2149	M	0.64997	1.995	0.80722	D	1	D;D;D	0.71674	0.998;0.986;0.988	D;P;P	0.65987	0.94;0.872;0.581	T	0.60131	-0.7323	10	0.72032	D	0.01	-9.6973	7.7996	0.29166	0.0:0.2612:0.7388:0.0	.	76;76;76	B4DZ94;Q96AQ1-2;Q96AQ1	.;.;CC74A_HUMAN	Q	76	ENSP00000295171:E76Q;ENSP00000387009:E76Q	ENSP00000295171:E76Q	E	+	1	0	CCDC74A	132002239	1.000000	0.71417	1.000000	0.80357	0.317000	0.28152	4.960000	0.63673	1.123000	0.41961	0.134000	0.15878	GAG	CCDC74A	-	NULL	ENSG00000163040		0.637	CCDC74A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC74A	HGNC	protein_coding	OTTHUMT00000254570.2	72	0.00	0	G	NM_138770		132285769	132285769	+1	no_errors	ENST00000295171	ensembl	human	known	69_37n	missense	26	53.57	30	SNP	0.995	C
CD6	923	genome.wustl.edu	37	11	60776307	60776307	+	Silent	SNP	G	G	C	rs79848107|rs386754116	byFrequency	TCGA-AQ-A54N-01A-11D-A25Q-09	TCGA-AQ-A54N-10A-01D-A25Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	292a1557-bc2e-449c-9d24-0ce01b5b2d65	2a07d013-012c-492a-90c2-0fcfe94b1c63	g.chr11:60776307G>C	ENST00000313421.7	+	4	957	c.771G>C	c.(769-771)gcG>gcC	p.A257A	CD6_ENST00000346437.4_Silent_p.A257A|CD6_ENST00000344028.5_Silent_p.A257A|CD6_ENST00000352009.5_Silent_p.A257A|CD6_ENST00000452451.2_Silent_p.A257A|CD6_ENST00000545105.1_Intron	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN	CD6 molecule	257	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.		A -> V (in dbSNP:rs2074225). {ECO:0000269|PubMed:17371992, ECO:0000269|PubMed:1919444, ECO:0000269|PubMed:9013954}.		cell adhesion (GO:0007155)	integral component of plasma membrane (GO:0005887)	scavenger receptor activity (GO:0005044)			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						ACGCGGGCGCGGTGTGCTCAG	0.652													G|||	834	0.166534	0.298	0.1095	5008	,	,		15908	0.0764		0.1382	False		,,,				2504	0.1513				Pancreas(169;904 2017 4767 38890 42505)	dbGAP											0													14.0	14.0	14.0					11																	60776307		2194	4286	6480	-	-	-	SO:0001819	synonymous_variant	0				CCDS7999.1, CCDS58137.1, CCDS58138.1	11q12.2	2006-03-28	2006-03-28		ENSG00000013725	ENSG00000013725		"""CD molecules"""	1691	protein-coding gene	gene with protein product		186720	"""CD6 antigen"""			9013954	Standard	NM_006725		Approved	Tp120	uc001nqq.3	P30203	OTTHUMG00000167823	ENST00000313421.7:c.771G>C	11.37:g.60776307G>C			A4KAD4|A4KAD5|Q9UMF2|Q9Y4K7|Q9Y4K8|Q9Y4K9|Q9Y4L0	Missense_Mutation	SNP	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt	p.R101P	ENST00000313421.7	37	c.302	CCDS7999.1	11	287	0.13141025641025642	120	0.24390243902439024	44	0.12154696132596685	35	0.06118881118881119	88	0.11609498680738786	G	0.743	-0.775758	0.02951	.	.	ENSG00000013725	ENST00000538611	.	.	.	4.42	-4.17	0.03857	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.29238	P	0.872832	.	.	.	.	.	.	T	0.20840	-1.0263	3	.	.	.	.	9.121	0.36786	0.2071:0.5517:0.2412:0.0	.	.	.	.	P	101	.	.	R	+	2	0	CD6	60532883	0.198000	0.23374	0.008000	0.14137	0.038000	0.13279	-0.013000	0.12678	-1.223000	0.02584	-0.175000	0.13238	CGG	CD6	-	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt	ENSG00000013725		0.652	CD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD6	HGNC	protein_coding	OTTHUMT00000396449.1	8	0.00	0	G	NM_006725		60776307	60776307	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000538611	ensembl	human	novel	69_37n	missense	4	55.56	5	SNP	0.023	C
CEP78	84131	genome.wustl.edu	37	9	80877837	80877837	+	Silent	SNP	G	G	A			TCGA-AQ-A54N-01A-11D-A25Q-09	TCGA-AQ-A54N-10A-01D-A25Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	292a1557-bc2e-449c-9d24-0ce01b5b2d65	2a07d013-012c-492a-90c2-0fcfe94b1c63	g.chr9:80877837G>A	ENST00000424347.2	+	12	1684	c.1395G>A	c.(1393-1395)gaG>gaA	p.E465E	CEP78_ENST00000376597.4_Silent_p.E466E|CEP78_ENST00000487108.2_3'UTR|CEP78_ENST00000415759.2_Silent_p.E466E|CEP78_ENST00000277082.5_Silent_p.E465E|CEP78_ENST00000376598.2_Silent_p.E465E			Q5JTW2	CEP78_HUMAN	centrosomal protein 78kDa	465					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)				breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	21						AACTGGAGGAGTGCCTAAAGC	0.338																																						dbGAP											0													51.0	48.0	49.0					9																	80877837		1738	3926	5664	-	-	-	SO:0001819	synonymous_variant	0			BC058931	CCDS47984.1, CCDS47985.1	9q21.2	2014-02-20	2005-12-01	2005-12-01	ENSG00000148019	ENSG00000148019			25740	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 81"""	C9orf81		14654843	Standard	NM_001098802		Approved	FLJ12643	uc004aky.4	Q5JTW2	OTTHUMG00000020062	ENST00000424347.2:c.1395G>A	9.37:g.80877837G>A			A1A4S8|E9PHX5|Q5BJE3|Q5JTW0|Q5JTW1|Q9H9N3	Silent	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.E466	ENST00000424347.2	37	c.1398		9																																																																																			CEP78	-	NULL	ENSG00000148019		0.338	CEP78-001	KNOWN	basic|appris_candidate	protein_coding	CEP78	HGNC	protein_coding	OTTHUMT00000052766.2	53	0.00	0	G	XM_095991		80877837	80877837	+1	no_errors	ENST00000376597	ensembl	human	known	69_37n	silent	32	11.11	4	SNP	0.994	A
DDOST	1650	genome.wustl.edu	37	1	20982252	20982252	+	Missense_Mutation	SNP	C	C	T			TCGA-AQ-A54N-01A-11D-A25Q-09	TCGA-AQ-A54N-10A-01D-A25Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	292a1557-bc2e-449c-9d24-0ce01b5b2d65	2a07d013-012c-492a-90c2-0fcfe94b1c63	g.chr1:20982252C>T	ENST00000375048.3	-	4	529	c.424G>A	c.(424-426)Ggc>Agc	p.G142S	DDOST_ENST00000602624.2_Missense_Mutation_p.G125S|DDOST_ENST00000415136.2_Missense_Mutation_p.G105S	NM_005216.4	NP_005207	P39656	OST48_HUMAN	dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit (non-catalytic)	142					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|innate immune response (GO:0045087)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|response to cytokine (GO:0034097)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|T cell activation (GO:0042110)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)|protein complex (GO:0043234)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)			endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|skin(1)	13		all_lung(284;2.98e-05)|Lung NSC(340;3.25e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000141)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00046)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CACTCACTGCCCAGCTCTCGA	0.557																																						dbGAP											0													153.0	150.0	151.0					1																	20982252		2203	4300	6503	-	-	-	SO:0001583	missense	0			D29643	CCDS212.1	1p36.1	2013-03-06	2013-03-06		ENSG00000244038	ENSG00000244038	2.4.1.119		2728	protein-coding gene	gene with protein product	"""oligosaccharyltransferase subunit 48"""	602202	"""dolichyl-diphosphooligosaccharide-protein glycosyltransferase"", ""dolichyl-diphosphooligosaccharide--protein glycosyltransferase"""			9367678	Standard	NM_005216		Approved	OST, KIAA0115, OST48, WBP1	uc001bdo.1	P39656	OTTHUMG00000002844	ENST00000375048.3:c.424G>A	1.37:g.20982252C>T	ENSP00000364188:p.Gly142Ser		B2RDQ4|B4DJE3|B4DLI2|O43244|Q5VWA5|Q8NI93|Q9BUI2	Missense_Mutation	SNP	pfam_OligosaccharylTrfase_su_Wbp1	p.G142S	ENST00000375048.3	37	c.424	CCDS212.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.681503	0.96774	.	.	ENSG00000244038	ENST00000375048;ENST00000415136	T;T	0.76316	-1.01;-1.01	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	D	0.84889	0.5572	M	0.68317	2.08	0.80722	D	1	P;P	0.52316	0.952;0.792	P;B	0.57720	0.826;0.403	D	0.83617	0.0137	10	0.34782	T	0.22	-28.2379	18.664	0.91481	0.0:1.0:0.0:0.0	.	105;142	E7EWT1;P39656	.;OST48_HUMAN	S	142;105	ENSP00000364188:G142S;ENSP00000399457:G105S	ENSP00000364188:G142S	G	-	1	0	DDOST	20854839	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.689000	0.84165	2.469000	0.83416	0.585000	0.79938	GGC	DDOST	-	pfam_OligosaccharylTrfase_su_Wbp1	ENSG00000244038		0.557	DDOST-001	KNOWN	basic|CCDS	protein_coding	DDOST	HGNC	protein_coding	OTTHUMT00000007961.2	12	0.00	0	C	NM_005216		20982252	20982252	-1	no_errors	ENST00000375048	ensembl	human	known	69_37n	missense	8	33.33	4	SNP	1.000	T
DDR2	4921	genome.wustl.edu	37	1	162724557	162724557	+	Missense_Mutation	SNP	A	A	G			TCGA-AQ-A54N-01A-11D-A25Q-09	TCGA-AQ-A54N-10A-01D-A25Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	292a1557-bc2e-449c-9d24-0ce01b5b2d65	2a07d013-012c-492a-90c2-0fcfe94b1c63	g.chr1:162724557A>G	ENST00000367922.3	+	6	767	c.329A>G	c.(328-330)cAt>cGt	p.H110R	DDR2_ENST00000367921.3_Missense_Mutation_p.H110R	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	110	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|chondrocyte proliferation (GO:0035988)|collagen fibril organization (GO:0030199)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|endochondral bone growth (GO:0003416)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autophosphorylation (GO:0046777)|regulation of bone mineralization (GO:0030500)|regulation of extracellular matrix disassembly (GO:0010715)|signal transduction (GO:0007165)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)		Regorafenib(DB08896)	GCAGGAGGTCATGGCATCGAG	0.537																																					NSCLC(161;314 2006 8283 19651 23192)	dbGAP											0													108.0	92.0	97.0					1																	162724557		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK095975	CCDS1241.1	1q12-q23	2009-07-10	2008-01-23		ENSG00000162733	ENSG00000162733	2.7.10.1		2731	protein-coding gene	gene with protein product		191311	"""discoidin domain receptor family, member 2"""	TYRO10, NTRKR3		9659899	Standard	XM_005245221		Approved	TKT	uc001gcg.3	Q16832	OTTHUMG00000034423	ENST00000367922.3:c.329A>G	1.37:g.162724557A>G	ENSP00000356899:p.His110Arg		Q7Z730	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.H110R	ENST00000367922.3	37	c.329	CCDS1241.1	1	.	.	.	.	.	.	.	.	.	.	A	11.94	1.790036	0.31685	.	.	ENSG00000162733	ENST00000446985;ENST00000415555;ENST00000542391;ENST00000367922;ENST00000367921	D;D;D;D	0.98090	-4.71;-4.71;-4.71;-4.71	5.78	3.41	0.39046	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.152923	0.64402	D	0.000019	D	0.86883	0.6040	N	0.25485	0.75	0.41070	D	0.985443	P	0.39352	0.669	B	0.30782	0.12	T	0.81331	-0.0981	9	0.17369	T	0.5	.	8.3343	0.32206	0.7302:0.1381:0.0:0.1316	.	110	Q16832	DDR2_HUMAN	R	110	ENSP00000400309:H110R;ENSP00000391310:H110R;ENSP00000356899:H110R;ENSP00000356898:H110R	ENSP00000356898:H110R	H	+	2	0	DDR2	160991181	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	4.358000	0.59442	0.420000	0.25954	0.528000	0.53228	CAT	DDR2	-	pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	ENSG00000162733		0.537	DDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDR2	HGNC	protein_coding	OTTHUMT00000083213.2	37	0.00	0	A	NM_006182		162724557	162724557	+1	no_errors	ENST00000367921	ensembl	human	known	69_37n	missense	42	21.82	12	SNP	1.000	G
DENND5B	160518	genome.wustl.edu	37	12	31595754	31595754	+	Missense_Mutation	SNP	G	G	T			TCGA-AQ-A54N-01A-11D-A25Q-09	TCGA-AQ-A54N-10A-01D-A25Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	292a1557-bc2e-449c-9d24-0ce01b5b2d65	2a07d013-012c-492a-90c2-0fcfe94b1c63	g.chr12:31595754G>T	ENST00000389082.5	-	7	2231	c.1967C>A	c.(1966-1968)cCa>cAa	p.P656Q	DENND5B_ENST00000306833.6_Missense_Mutation_p.P691Q|DENND5B_ENST00000536562.1_Missense_Mutation_p.P691Q|DENND5B_ENST00000354285.4_Missense_Mutation_p.P678Q	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	656					positive regulation of Rab GTPase activity (GO:0032851)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CTGTAACTTTGGAAAGAACCC	0.428																																						dbGAP											0													103.0	97.0	99.0					12																	31595754		1895	4135	6030	-	-	-	SO:0001583	missense	0			AF086301	CCDS44857.1	12p11.21	2012-10-03			ENSG00000170456	ENSG00000170456		"""DENN/MADD domain containing"""	28338	protein-coding gene	gene with protein product						12477932	Standard	NM_144973		Approved	MGC24039	uc001rki.1	Q6ZUT9	OTTHUMG00000169034	ENST00000389082.5:c.1967C>A	12.37:g.31595754G>T	ENSP00000373734:p.Pro656Gln		B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	Missense_Mutation	SNP	pfam_DENN_dom,pfam_Run,pfam_uDENN_dom,pfam_dDENN_dom,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_Run,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_LipOase_LH2,pfscan_Run	p.P691Q	ENST00000389082.5	37	c.2072	CCDS44857.1	12	.	.	.	.	.	.	.	.	.	.	G	24.8	4.575673	0.86645	.	.	ENSG00000170456	ENST00000389082;ENST00000306833;ENST00000536562;ENST00000354285	T;T;T;T	0.49139	3.14;3.24;3.24;0.79	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.70544	0.3236	M	0.79258	2.445	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.999	T	0.75368	-0.3342	10	0.87932	D	0	-5.9628	17.9998	0.89195	0.0:0.0:1.0:0.0	.	678;656;691	Q6ZUT9-4;Q6ZUT9;G3V1S3	.;DEN5B_HUMAN;.	Q	656;691;691;678	ENSP00000373734:P656Q;ENSP00000306482:P691Q;ENSP00000444889:P691Q;ENSP00000346238:P678Q	ENSP00000306482:P691Q	P	-	2	0	DENND5B	31487021	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.399000	0.97285	2.473000	0.83533	0.591000	0.81541	CCA	DENND5B	-	NULL	ENSG00000170456		0.428	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND5B	HGNC	protein_coding	OTTHUMT00000402040.1	77	0.00	0	G	NM_144973		31595754	31595754	-1	no_errors	ENST00000306833	ensembl	human	known	69_37n	missense	62	10.14	7	SNP	1.000	T
DGKG	1608	genome.wustl.edu	37	3	185882704	185882704	+	Nonsense_Mutation	SNP	G	G	T	rs546201700		TCGA-AQ-A54N-01A-11D-A25Q-09	TCGA-AQ-A54N-10A-01D-A25Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	292a1557-bc2e-449c-9d24-0ce01b5b2d65	2a07d013-012c-492a-90c2-0fcfe94b1c63	g.chr3:185882704G>T	ENST00000265022.3	-	23	2738	c.2199C>A	c.(2197-2199)tgC>tgA	p.C733*	DGKG_ENST00000544847.1_Nonsense_Mutation_p.C674*|DGKG_ENST00000447054.1_5'UTR|DGKG_ENST00000382164.4_Nonsense_Mutation_p.C694*|DGKG_ENST00000344484.4_Nonsense_Mutation_p.C708*	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	733					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|neuron development (GO:0048666)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	TGACAGAGGCGCACTGGGCCA	0.577																																						dbGAP											0													118.0	97.0	104.0					3																	185882704		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF020945	CCDS3274.1, CCDS43181.1, CCDS43182.1	3q27-q28	2013-01-10	2002-08-29		ENSG00000058866	ENSG00000058866	2.7.1.107	"""EF-hand domain containing"""	2853	protein-coding gene	gene with protein product		601854	"""diacylglycerol kinase, gamma (90kD)"""	DAGK3		8034597	Standard	NM_001080744		Approved		uc003fqa.3	P49619	OTTHUMG00000156617	ENST00000265022.3:c.2199C>A	3.37:g.185882704G>T	ENSP00000265022:p.Cys733*		B2RAH4|Q2M1H4|Q5FWG1	Nonsense_Mutation	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_Ca-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.C733*	ENST00000265022.3	37	c.2199	CCDS3274.1	3	.	.	.	.	.	.	.	.	.	.	G	45	11.535752	0.99573	.	.	ENSG00000058866	ENST00000265022;ENST00000344484;ENST00000382164;ENST00000544847	.	.	.	5.46	0.371	0.16168	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.9145	0.35574	0.4588:0.0:0.5412:0.0	.	.	.	.	X	733;708;694;674	.	ENSP00000265022:C733X	C	-	3	2	DGKG	187365398	0.987000	0.35691	0.998000	0.56505	0.977000	0.68977	0.432000	0.21461	0.199000	0.20427	-0.137000	0.14449	TGC	DGKG	-	pfam_Diacylglycerol_kin_accessory,smart_Diacylglycerol_kin_accessory	ENSG00000058866		0.577	DGKG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGKG	HGNC	protein_coding	OTTHUMT00000344800.3	63	0.00	0	G			185882704	185882704	-1	no_errors	ENST00000265022	ensembl	human	known	69_37n	nonsense	33	44.07	26	SNP	0.998	T
DNM1P34	729809	genome.wustl.edu	37	15	75592328	75592328	+	RNA	SNP	C	C	A			TCGA-AQ-A54N-01A-11D-A25Q-09	TCGA-AQ-A54N-10A-01D-A25Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	292a1557-bc2e-449c-9d24-0ce01b5b2d65	2a07d013-012c-492a-90c2-0fcfe94b1c63	g.chr15:75592328C>A	ENST00000567292.1	-	0	2241							Q6PK57	DMP34_HUMAN	DNM1 pseudogene 34							microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)										AGGGCAGGGGCATACCACAGA	0.423																																						dbGAP											0																																										-	-	-			0			AJ576251		15q24.2	2013-04-25			ENSG00000260357	ENSG00000260357			35181	pseudogene	pseudogene				DNM1DN8@			Standard	NG_009143		Approved	DNM1DN8-1, DNM1DN8-5	uc002azx.1	Q6PK57	OTTHUMG00000172673		15.37:g.75592328C>A				RNA	SNP	-	NULL	ENST00000567292.1	37	NULL		15																																																																																			DNM1P34	-	-	ENSG00000260357		0.423	DNM1P34-001	KNOWN	basic	processed_transcript	DNM1P34	HGNC	pseudogene	OTTHUMT00000419799.1	21	0.00	0	C	NG_009143		75592328	75592328	-1	no_errors	ENST00000567292	ensembl	human	known	69_37n	rna	12	25.00	4	SNP	0.993	A
ESPNP	284729	genome.wustl.edu	37	1	17017735	17017735	+	RNA	SNP	G	G	A			TCGA-AQ-A54N-01A-11D-A25Q-09	TCGA-AQ-A54N-10A-01D-A25Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	292a1557-bc2e-449c-9d24-0ce01b5b2d65	2a07d013-012c-492a-90c2-0fcfe94b1c63	g.chr1:17017735G>A	ENST00000492551.1	-	0	1992					NR_026567.1				espin pseudogene																		AGCTTCTTCCGCAGGAGGTCC	0.647																																						dbGAP											0																																										-	-	-			0			AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17017735G>A				RNA	SNP	-	NULL	ENST00000492551.1	37	NULL		1																																																																																			ESPNP	-	-	ENSG00000116219		0.647	ESPNP-002	KNOWN	basic	processed_transcript	ESPNP	HGNC	pseudogene	OTTHUMT00000326311.1	137	0.00	0	G			17017735	17017735	-1	no_errors	ENST00000492551	ensembl	human	known	69_37n	rna	82	19.61	20	SNP	1.000	A
FAM170B	170370	genome.wustl.edu	37	10	50341903	50341903	+	Missense_Mutation	SNP	T	T	G			TCGA-AQ-A54N-01A-11D-A25Q-09	TCGA-AQ-A54N-10A-01D-A25Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	292a1557-bc2e-449c-9d24-0ce01b5b2d65	2a07d013-012c-492a-90c2-0fcfe94b1c63	g.chr10:50341903T>G	ENST00000311787.5	-	1	150	c.61A>C	c.(61-63)Agc>Cgc	p.S21R	FAM170B-AS1_ENST00000435809.1_RNA|FAM170B-AS1_ENST00000443389.1_RNA|FAM170B-AS1_ENST00000442525.1_RNA	NM_001164484.1	NP_001157956.1	A6NMN3	F170B_HUMAN	family with sequence similarity 170, member B	21										central_nervous_system(1)|endometrium(1)|skin(1)	3						CTGGTCAAGCTGAGGGTGGTC	0.557																																						dbGAP											0													153.0	134.0	140.0					10																	50341903		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS53536.1	10q11.23	2008-11-06	2008-06-12	2008-06-12	ENSG00000172538	ENSG00000172538			19736	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 73"""	C10orf73			Standard	NM_001164484		Approved	Em:AC084727.4	uc001jhj.3	A6NMN3	OTTHUMG00000018187	ENST00000311787.5:c.61A>C	10.37:g.50341903T>G	ENSP00000308292:p.Ser21Arg		Q86WY6|Q8N6K8	Missense_Mutation	SNP	NULL	p.S21R	ENST00000311787.5	37	c.61	CCDS53536.1	10	.	.	.	.	.	.	.	.	.	.	T	10.57	1.388497	0.25118	.	.	ENSG00000172538	ENST00000311787	T	0.38887	1.11	3.73	2.6	0.31112	.	0.129672	0.35646	N	0.003072	T	0.29620	0.0739	L	0.44542	1.39	0.09310	N	1	P	0.35908	0.527	B	0.34038	0.174	T	0.21621	-1.0240	10	0.62326	D	0.03	-15.1792	5.1876	0.15193	0.0:0.1361:0.0:0.8639	.	21	A6NMN3	F170B_HUMAN	R	21	ENSP00000308292:S21R	ENSP00000308292:S21R	S	-	1	0	FAM170B	50011909	0.337000	0.24766	0.004000	0.12327	0.009000	0.06853	0.566000	0.23593	0.797000	0.33971	0.533000	0.62120	AGC	FAM170B	-	NULL	ENSG00000172538		0.557	FAM170B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM170B	HGNC	protein_coding	OTTHUMT00000047974.1	66	0.00	0	T	XM_096317		50341903	50341903	-1	no_errors	ENST00000311787	ensembl	human	known	69_37n	missense	61	25.61	21	SNP	0.006	G
FAM198A	729085	genome.wustl.edu	37	3	43074129	43074129	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AQ-A54N-01A-11D-A25Q-09	TCGA-AQ-A54N-10A-01D-A25Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	292a1557-bc2e-449c-9d24-0ce01b5b2d65	2a07d013-012c-492a-90c2-0fcfe94b1c63	g.chr3:43074129C>A	ENST00000430121.2	+	2	469	c.374C>A	c.(373-375)tCa>tAa	p.S125*	KRBOX1_ENST00000443313.1_Intron	NM_001129908.2	NP_001123380.2	Q9UFP1	F198A_HUMAN	family with sequence similarity 198, member A	125						extracellular region (GO:0005576)				endometrium(1)	1						ATTACTTTGTCAGGACATCCA	0.577																																						dbGAP											0													119.0	111.0	114.0					3																	43074129		692	1591	2283	-	-	-	SO:0001587	stop_gained	0			AL117530	CCDS46808.1	3p22.1	2012-11-29	2009-10-19	2009-10-19	ENSG00000144649	ENSG00000144649			24485	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 41"""	C3orf41			Standard	NM_001129908		Approved	DKFZP434B172	uc003cmp.4	Q9UFP1	OTTHUMG00000156449	ENST00000430121.2:c.374C>A	3.37:g.43074129C>A	ENSP00000407301:p.Ser125*		B3KR48	Nonsense_Mutation	SNP	NULL	p.S125*	ENST00000430121.2	37	c.374	CCDS46808.1	3	.	.	.	.	.	.	.	.	.	.	C	13.67	2.306736	0.40795	.	.	ENSG00000144649	ENST00000430121	.	.	.	4.04	3.16	0.36331	.	1.021050	0.07844	N	0.963583	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-19.9879	8.0726	0.30697	0.0:0.8849:0.0:0.1151	.	.	.	.	X	125	.	.	S	+	2	0	FAM198A	43049133	0.001000	0.12720	0.002000	0.10522	0.083000	0.17756	0.917000	0.28665	1.036000	0.39998	0.591000	0.81541	TCA	FAM198A	-	NULL	ENSG00000144649		0.577	FAM198A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM198A	HGNC	protein_coding	OTTHUMT00000344240.3	37	0.00	0	C	NM_001129908		43074129	43074129	+1	no_errors	ENST00000273146	ensembl	human	known	69_37n	nonsense	5	79.17	19	SNP	0.008	A
FAM3B	54097	genome.wustl.edu	37	21	42729116	42729116	+	Missense_Mutation	SNP	C	C	G			TCGA-AQ-A54N-01A-11D-A25Q-09	TCGA-AQ-A54N-10A-01D-A25Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	292a1557-bc2e-449c-9d24-0ce01b5b2d65	2a07d013-012c-492a-90c2-0fcfe94b1c63	g.chr21:42729116C>G	ENST00000357985.2	+	8	846	c.700C>G	c.(700-702)Cga>Gga	p.R234G	FAM3B_ENST00000479810.2_3'UTR|FAM3B_ENST00000398647.3_Missense_Mutation_p.R186G|FAM3B_ENST00000398646.3_Missense_Mutation_p.R257G|FAM3B_ENST00000398652.3_Missense_Mutation_p.R273G	NM_058186.3	NP_478066.3	P58499	FAM3B_HUMAN	family with sequence similarity 3, member B	234					apoptotic process (GO:0006915)|insulin secretion (GO:0030073)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cytokine activity (GO:0005125)			central_nervous_system(2)|endometrium(1)|lung(2)	5		Prostate(19;1.57e-07)|all_epithelial(19;0.0404)				ACCCAAAGAACGAAGCTGACA	0.423																																						dbGAP											0													103.0	107.0	105.0					21																	42729116		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF494379	CCDS13671.1, CCDS42930.1	21q22.3	2014-08-14	2002-05-23	2002-06-20	ENSG00000183844	ENSG00000183844			1253	protein-coding gene	gene with protein product	"""pancreatic-derived factor"""	608617	"""chromosome 21 open reading frame 11"""	C21orf11			Standard	NM_058186		Approved	D21M16SJHU19e, PRED44, 2-21, ORF9, C21orf76, PANDER	uc002yzb.1	P58499	OTTHUMG00000086752	ENST00000357985.2:c.700C>G	21.37:g.42729116C>G	ENSP00000350673:p.Arg234Gly			Missense_Mutation	SNP	NULL	p.R234G	ENST00000357985.2	37	c.700	CCDS13671.1	21	.	.	.	.	.	.	.	.	.	.	C	8.319	0.823815	0.16678	.	.	ENSG00000183844	ENST00000357985;ENST00000398652;ENST00000398647;ENST00000398646	T;T;T;T	0.58940	0.63;0.5;0.3;0.54	4.82	1.79	0.24919	.	1.333240	0.05037	N	0.475647	T	0.37972	0.1023	N	0.08118	0	0.09310	N	1	B;B;B	0.13594	0.008;0.008;0.008	B;B;B	0.12156	0.007;0.007;0.007	T	0.24941	-1.0146	10	0.31617	T	0.26	.	8.2768	0.31877	0.1659:0.5126:0.3215:0.0	.	257;186;234	A8MTF8;P58499-3;P58499	.;.;FAM3B_HUMAN	G	234;273;186;257	ENSP00000350673:R234G;ENSP00000381646:R273G;ENSP00000381642:R186G;ENSP00000381641:R257G	ENSP00000350673:R234G	R	+	1	2	FAM3B	41650986	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.017000	0.13399	0.432000	0.26286	-0.176000	0.13171	CGA	FAM3B	-	NULL	ENSG00000183844		0.423	FAM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM3B	HGNC	protein_coding	OTTHUMT00000195142.1	33	0.00	0	C	NM_058186		42729116	42729116	+1	no_errors	ENST00000357985	ensembl	human	known	69_37n	missense	20	41.18	14	SNP	0.000	G
FBLN2	2199	genome.wustl.edu	37	3	13679353	13679353	+	Missense_Mutation	SNP	G	G	C			TCGA-AQ-A54N-01A-11D-A25Q-09	TCGA-AQ-A54N-10A-01D-A25Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	292a1557-bc2e-449c-9d24-0ce01b5b2d65	2a07d013-012c-492a-90c2-0fcfe94b1c63	g.chr3:13679353G>C	ENST00000295760.7	+	17	3558	c.3489G>C	c.(3487-3489)tgG>tgC	p.W1163C	FBLN2_ENST00000404922.3_Missense_Mutation_p.W1210C|FBLN2_ENST00000535798.1_Missense_Mutation_p.W1189C|FBLN2_ENST00000492059.1_Missense_Mutation_p.W1210C	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2	1163	Domain III.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			TGAAGCTCTGGAGGCAGGGCT	0.647																																						dbGAP											0													108.0	119.0	115.0					3																	13679353		2087	4221	6308	-	-	-	SO:0001583	missense	0			X82494	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			ENSG00000163520	ENSG00000163520		"""Fibulins"""	3601	protein-coding gene	gene with protein product		135821				7806230	Standard	NM_001165035		Approved		uc011ava.2	P98095	OTTHUMG00000155437	ENST00000295760.7:c.3489G>C	3.37:g.13679353G>C	ENSP00000295760:p.Trp1163Cys		B7Z9C5|Q8IUI0|Q8IUI1	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_Anaphylatoxin/fibulin,superfamily_Anaphylatoxin_,smart_EGF-like,smart_Anaphylatoxin/fibulin,smart_EGF-like_Ca-bd,pfscan_Anaphylatoxin/fibulin,pfscan_EG-like_dom	p.W1210C	ENST00000295760.7	37	c.3630	CCDS46762.1	3	.	.	.	.	.	.	.	.	.	.	G	12.28	1.889333	0.33348	.	.	ENSG00000163520	ENST00000535798;ENST00000404922;ENST00000295760;ENST00000492059	T;T;T;T	0.79033	-1.23;-1.23;-1.14;-1.23	4.9	4.03	0.46877	.	0.069755	0.64402	D	0.000008	D	0.82706	0.5095	L	0.51422	1.61	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.969;0.997;0.999	T	0.82583	-0.0385	10	0.59425	D	0.04	.	9.152	0.36969	0.0776:0.1461:0.7763:0.0	.	1163;1210;1189	P98095;P98095-2;F5H1F3	FBLN2_HUMAN;.;.	C	1189;1210;1163;1210	ENSP00000445705:W1189C;ENSP00000384169:W1210C;ENSP00000295760:W1163C;ENSP00000420042:W1210C	ENSP00000295760:W1163C	W	+	3	0	FBLN2	13654354	1.000000	0.71417	0.998000	0.56505	0.317000	0.28152	3.094000	0.50227	1.282000	0.44496	0.563000	0.77884	TGG	FBLN2	-	NULL	ENSG00000163520		0.647	FBLN2-002	KNOWN	basic|CCDS	protein_coding	FBLN2	HGNC	protein_coding	OTTHUMT00000340083.3	28	0.00	0	G	NM_001004019		13679353	13679353	+1	no_errors	ENST00000404922	ensembl	human	known	69_37n	missense	3	72.73	8	SNP	1.000	C
FBXO25	26260	genome.wustl.edu	37	8	417720	417720	+	Splice_Site	SNP	G	G	T			TCGA-AQ-A54N-01A-11D-A25Q-09	TCGA-AQ-A54N-10A-01D-A25Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	292a1557-bc2e-449c-9d24-0ce01b5b2d65	2a07d013-012c-492a-90c2-0fcfe94b1c63	g.chr8:417720G>T	ENST00000276326.5	+	10	1107	c.988G>T	c.(988-990)Gac>Tac	p.D330Y	FBXO25_ENST00000352684.2_Intron|FBXO25_ENST00000519376.1_3'UTR|FBXO25_ENST00000382824.1_Intron|FBXO25_ENST00000350302.3_Intron	NM_183421.1	NP_904357.1	Q8TCJ0	FBX25_HUMAN	F-box protein 25	330					protein ubiquitination (GO:0016567)	nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10		Ovarian(12;0.00965)|Colorectal(14;0.0815)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122)		Epithelial(5;3.14e-14)|OV - Ovarian serous cystadenocarcinoma(5;1.56e-07)|BRCA - Breast invasive adenocarcinoma(11;1.88e-06)		GATCTCGAAGGACTACCATCT	0.433																																						dbGAP											0													223.0	181.0	195.0					8																	417720		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF174605	CCDS5952.1, CCDS5953.1, CCDS5954.1	8p23.3	2007-03-30	2004-06-15		ENSG00000147364	ENSG00000147364		"""F-boxes /  ""other"""""	13596	protein-coding gene	gene with protein product		609098	"""F-box only protein 25"""			10531035, 10531037	Standard	NM_012173		Approved	FBX25	uc003wox.3	Q8TCJ0	OTTHUMG00000090341	ENST00000276326.5:c.988-1G>T	8.37:g.417720G>T			Q6PJ83|Q7Z4V4|Q9UKB8	Missense_Mutation	SNP	superfamily_F-box_dom_cyclin-like	p.D330Y	ENST00000276326.5	37	c.988	CCDS5953.1	8	.	.	.	.	.	.	.	.	.	.	G	20.8	4.046998	0.75846	.	.	ENSG00000147364	ENST00000276326	T	0.18960	2.18	5.08	5.08	0.68730	F-box domain, Skp2-like (1);	0.000000	0.64402	D	0.000004	T	0.22044	0.0531	N	0.08118	0	0.80722	D	1	D	0.65815	0.995	P	0.60473	0.875	T	0.10660	-1.0620	9	.	.	.	-19.8853	14.3183	0.66468	0.0:0.0:1.0:0.0	.	330	Q8TCJ0	FBX25_HUMAN	Y	330	ENSP00000276326:D330Y	.	D	+	1	0	FBXO25	407720	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.303000	0.78871	2.522000	0.85027	0.467000	0.42956	GAC	FBXO25	-	superfamily_F-box_dom_cyclin-like	ENSG00000147364		0.433	FBXO25-001	KNOWN	basic|CCDS	protein_coding	FBXO25	HGNC	protein_coding	OTTHUMT00000206710.2	149	0.00	0	G	NM_012173	Missense_Mutation	417720	417720	+1	no_errors	ENST00000276326	ensembl	human	known	69_37n	missense	100	18.03	22	SNP	1.000	T
PRDM16	63976	genome.wustl.edu	37	1	2983987	2983987	+	5'Flank	SNP	C	C	A			TCGA-AQ-A54N-01A-11D-A25Q-09	TCGA-AQ-A54N-10A-01D-A25Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	292a1557-bc2e-449c-9d24-0ce01b5b2d65	2a07d013-012c-492a-90c2-0fcfe94b1c63	g.chr1:2983987C>A	ENST00000270722.5	+	0	0				PRDM16_ENST00000442529.2_5'Flank|PRDM16_ENST00000511072.1_5'Flank|PRDM16_ENST00000378398.3_5'Flank|PRDM16_ENST00000514189.1_5'Flank|PRDM16_ENST00000441472.2_5'Flank|PRDM16_ENST00000378391.2_5'Flank|LINC00982_ENST00000321336.1_RNA|LINC00982_ENST00000445317.1_RNA			Q9HAZ2	PRD16_HUMAN	PR domain containing 16						brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		AGACTGGGCACCCTGGAGCCG	0.667			T	EVI1	"""MDS, AML"""																																	dbGAP		Dom	yes		1	1p36.23-p33	63976	PR domain containing 16		L	0																																										-	-	-	SO:0001631	upstream_gene_variant	0			AF294278	CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2	1p36.23-p33	2013-01-08			ENSG00000142611	ENSG00000142611		"""Zinc fingers, C2H2-type"""	14000	protein-coding gene	gene with protein product	"""MDS1/EVI1-like"", ""PR-domain zinc finger protein 16"", ""transcription factor MEL1"""	605557				11050005	Standard	NM_199454		Approved	MEL1, PFM13, KIAA1675, MGC166915	uc001akf.3	Q9HAZ2	OTTHUMG00000000581		1.37:g.2983987C>A	Exception_encountered		A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	RNA	SNP	-	NULL	ENST00000270722.5	37	NULL	CCDS41236.2	1																																																																																			RP1-163G9.1	-	-	ENSG00000177133		0.667	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLJ42875	Clone_based_vega_gene	protein_coding	OTTHUMT00000001382.3	76	0.00	0	C	NM_022114		2983987	2983987	-1	no_errors	ENST00000321336	ensembl	human	known	69_37n	rna	28	26.32	10	SNP	0.000	A
FMN2	56776	genome.wustl.edu	37	1	240370261	240370261	+	Missense_Mutation	SNP	G	G	A			TCGA-AQ-A54N-01A-11D-A25Q-09	TCGA-AQ-A54N-10A-01D-A25Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	292a1557-bc2e-449c-9d24-0ce01b5b2d65	2a07d013-012c-492a-90c2-0fcfe94b1c63	g.chr1:240370261G>A	ENST00000319653.9	+	5	2379	c.2149G>A	c.(2149-2151)Gcc>Acc	p.A717T		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	717					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TGGAGTGACAGCCTCAGGCGA	0.502																																						dbGAP											0													71.0	70.0	70.0					1																	240370261		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.2149G>A	1.37:g.240370261G>A	ENSP00000318884:p.Ala717Thr		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Formin_homology_1,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg,pfscan_DEP_dom	p.A717T	ENST00000319653.9	37	c.2149	CCDS31069.2	1	.	.	.	.	.	.	.	.	.	.	G	11.48	1.649860	0.29336	.	.	ENSG00000155816	ENST00000447095;ENST00000319653	T	0.27256	1.68	4.93	-6.54	0.01860	.	0.983285	0.08279	N	0.970213	T	0.14056	0.0340	N	0.22421	0.69	0.22199	N	0.999294	B	0.16396	0.017	B	0.09377	0.004	T	0.31971	-0.9924	10	0.33141	T	0.24	.	10.2199	0.43190	0.1449:0.209:0.5828:0.0633	.	717	Q9NZ56	FMN2_HUMAN	T	154;717	ENSP00000318884:A717T	ENSP00000318884:A717T	A	+	1	0	FMN2	238436884	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.043000	0.13971	-0.906000	0.03866	-0.211000	0.12701	GCC	FMN2	-	NULL	ENSG00000155816		0.502	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMN2	HGNC	protein_coding	OTTHUMT00000096217.2	46	0.00	0	G	XM_371352		240370261	240370261	+1	no_errors	ENST00000319653	ensembl	human	known	69_37n	missense	42	23.64	13	SNP	0.000	A
FPR1	2357	genome.wustl.edu	37	19	52249452	52249452	+	Missense_Mutation	SNP	C	C	T			TCGA-AQ-A54N-01A-11D-A25Q-09	TCGA-AQ-A54N-10A-01D-A25Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	292a1557-bc2e-449c-9d24-0ce01b5b2d65	2a07d013-012c-492a-90c2-0fcfe94b1c63	g.chr19:52249452C>T	ENST00000595042.1	-	3	937	c.796G>A	c.(796-798)Gtc>Atc	p.V266I	FPR1_ENST00000304748.4_Missense_Mutation_p.V266I	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	266					activation of MAPK activity (GO:0000187)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|nitric oxide mediated signal transduction (GO:0007263)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	N-formyl peptide receptor activity (GO:0004982)|receptor activity (GO:0004872)			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	CGGATTCTGACTGTGGCTATA	0.502																																						dbGAP											0													89.0	72.0	78.0					19																	52249452		2203	4300	6503	-	-	-	SO:0001583	missense	0			M60627	CCDS12839.1	19q13.41	2014-09-17				ENSG00000171051		"""GPCR / Class A : Formyl peptide receptors"""	3826	protein-coding gene	gene with protein product		136537				2161213, 12595898	Standard	NM_001193306		Approved	FPR, FMLP	uc002pxq.3	P21462		ENST00000595042.1:c.796G>A	19.37:g.52249452C>T	ENSP00000471493:p.Val266Ile		Q14939|Q7Z6A4|Q86U52|Q9NS48	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Frt_met_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Anphylx_rcpt	p.V266I	ENST00000595042.1	37	c.796	CCDS12839.1	19	.	.	.	.	.	.	.	.	.	.	.	3.674	-0.066980	0.07273	.	.	ENSG00000171051	ENST00000304748	T	0.36699	1.24	3.65	-7.29	0.01451	GPCR, rhodopsin-like superfamily (1);	0.736860	0.12194	N	0.490943	T	0.16727	0.0402	N	0.20328	0.56	0.09310	N	1	B	0.06786	0.001	B	0.15052	0.012	T	0.28396	-1.0045	10	0.15066	T	0.55	.	9.6878	0.40109	0.0:0.5843:0.1256:0.2901	.	266	P21462	FPR1_HUMAN	I	266	ENSP00000302707:V266I	ENSP00000302707:V266I	V	-	1	0	FPR1	56941264	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.415000	0.07106	-1.751000	0.01326	-1.223000	0.01593	GTC	FPR1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000171051		0.502	FPR1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FPR1	HGNC	protein_coding	OTTHUMT00000466905.1	19	0.00	0	C	NM_002029		52249452	52249452	-1	no_errors	ENST00000304748	ensembl	human	known	69_37n	missense	8	55.56	10	SNP	0.000	T
HCN3	57657	genome.wustl.edu	37	1	155255569	155255569	+	Missense_Mutation	SNP	C	C	T			TCGA-AQ-A54N-01A-11D-A25Q-09	TCGA-AQ-A54N-10A-01D-A25Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	292a1557-bc2e-449c-9d24-0ce01b5b2d65	2a07d013-012c-492a-90c2-0fcfe94b1c63	g.chr1:155255569C>T	ENST00000368358.3	+	6	1299	c.1291C>T	c.(1291-1293)Cat>Tat	p.H431Y	HCN3_ENST00000496230.1_3'UTR	NM_020897.2	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	431					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GCTGTTTGCCCATGCCGACCC	0.637																																						dbGAP											0													56.0	52.0	54.0					1																	155255569		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB040968	CCDS1108.1	1q21.2	2011-07-05			ENSG00000143630	ENSG00000143630		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	19183	protein-coding gene	gene with protein product		609973				16382102	Standard	NM_020897		Approved	KIAA1535	uc001fjz.2	Q9P1Z3	OTTHUMG00000035872	ENST00000368358.3:c.1291C>T	1.37:g.155255569C>T	ENSP00000357342:p.His431Tyr		D3DV90|Q4VX12|Q8N6W6|Q9BWQ2	Missense_Mutation	SNP	pfam_Ion_trans_N,pfam_Ion_trans_dom,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG	p.H431Y	ENST00000368358.3	37	c.1291	CCDS1108.1	1	.	.	.	.	.	.	.	.	.	.	C	17.58	3.423870	0.62733	.	.	ENSG00000143630	ENST00000368358	D	0.96619	-4.07	5.35	4.38	0.52667	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.000000	0.53938	D	0.000060	D	0.88485	0.6449	N	0.24115	0.695	0.48830	D	0.999716	B;B	0.16166	0.016;0.001	B;B	0.13407	0.009;0.003	D	0.86438	0.1765	10	0.59425	D	0.04	.	10.7794	0.46369	0.2982:0.7018:0.0:0.0	.	126;431	B7Z5R8;Q9P1Z3	.;HCN3_HUMAN	Y	431	ENSP00000357342:H431Y	ENSP00000357342:H431Y	H	+	1	0	HCN3	153522193	1.000000	0.71417	0.937000	0.37676	0.912000	0.54170	6.684000	0.74538	2.667000	0.90743	0.561000	0.74099	CAT	HCN3	-	superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	ENSG00000143630		0.637	HCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCN3	HGNC	protein_coding	OTTHUMT00000087388.1	39	0.00	0	C	NM_020897		155255569	155255569	+1	no_errors	ENST00000368358	ensembl	human	known	69_37n	missense	48	30.43	21	SNP	1.000	T
HECTD2	143279	genome.wustl.edu	37	10	93240885	93240885	+	Missense_Mutation	SNP	A	A	T			TCGA-AQ-A54N-01A-11D-A25Q-09	TCGA-AQ-A54N-10A-01D-A25Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	292a1557-bc2e-449c-9d24-0ce01b5b2d65	2a07d013-012c-492a-90c2-0fcfe94b1c63	g.chr10:93240885A>T	ENST00000298068.5	+	7	794	c.700A>T	c.(700-702)Ata>Tta	p.I234L	HECTD2_ENST00000536715.1_5'UTR|HECTD2_ENST00000371667.1_5'Flank|HECTD2_ENST00000446394.1_Missense_Mutation_p.I234L	NM_182765.3	NP_877497	Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	234					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						AGCATATTTTATACTTTTACA	0.294																																					NSCLC(12;376 469 1699 39910 41417)	dbGAP											0													61.0	63.0	62.0					10																	93240885		2201	4291	6492	-	-	-	SO:0001583	missense	0			AK094625	CCDS7414.1, CCDS7415.1, CCDS60591.1	10q23.32	2013-09-20	2012-02-23		ENSG00000165338	ENSG00000165338			26736	protein-coding gene	gene with protein product			"""HECT domain containing 2"""			8619474, 9110174	Standard	NM_001284274		Approved	FLJ37306	uc001khl.2	Q5U5R9	OTTHUMG00000018742	ENST00000298068.5:c.700A>T	10.37:g.93240885A>T	ENSP00000298068:p.Ile234Leu		Q5VZ97|Q5VZ98|Q5VZ99|Q8N1X7|Q8TCP5	Missense_Mutation	SNP	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT	p.I234L	ENST00000298068.5	37	c.700	CCDS7414.1	10	.	.	.	.	.	.	.	.	.	.	A	17.19	3.325325	0.60743	.	.	ENSG00000165338	ENST00000446394;ENST00000298068	T;T	0.43294	0.99;0.95	5.67	4.54	0.55810	.	0.103596	0.64402	D	0.000004	T	0.42268	0.1195	M	0.80616	2.505	0.80722	D	1	B;B	0.34372	0.083;0.451	B;B	0.26517	0.018;0.07	T	0.37197	-0.9716	10	0.38643	T	0.18	.	11.8309	0.52295	0.9315:0.0:0.0685:0.0	.	234;234	E7ERR3;Q5U5R9	.;HECD2_HUMAN	L	234	ENSP00000401023:I234L;ENSP00000298068:I234L	ENSP00000298068:I234L	I	+	1	0	HECTD2	93230865	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.286000	0.58995	1.087000	0.41251	-0.256000	0.11100	ATA	HECTD2	-	NULL	ENSG00000165338		0.294	HECTD2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	HECTD2	HGNC	protein_coding	OTTHUMT00000098620.1	23	0.00	0	A			93240885	93240885	+1	no_errors	ENST00000446394	ensembl	human	known	69_37n	missense	20	33.33	10	SNP	1.000	T
HGD	3081	genome.wustl.edu	37	3	120347346	120347346	+	Missense_Mutation	SNP	C	C	A			TCGA-AQ-A54N-01A-11D-A25Q-09	TCGA-AQ-A54N-10A-01D-A25Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	292a1557-bc2e-449c-9d24-0ce01b5b2d65	2a07d013-012c-492a-90c2-0fcfe94b1c63	g.chr3:120347346C>A	ENST00000283871.5	-	14	1678	c.1219G>T	c.(1219-1221)Gcg>Tcg	p.A407S		NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	407					cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	homogentisate 1,2-dioxygenase activity (GO:0004411)|metal ion binding (GO:0046872)			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		TTTGTGACCGCCAGACTTAAA	0.458																																						dbGAP											0													110.0	107.0	108.0					3																	120347346		2203	4296	6499	-	-	-	SO:0001583	missense	0				CCDS3000.1	3q	2010-04-27	2010-04-27		ENSG00000113924	ENSG00000113924	1.13.11.5		4892	protein-coding gene	gene with protein product	"""homogentisate oxidase"""	607474	"""homogentisate 1,2-dioxygenase (homogentisate oxidase)"""	AKU		8188241	Standard	NM_000187		Approved	HGO	uc003edw.3	Q93099	OTTHUMG00000159441	ENST00000283871.5:c.1219G>T	3.37:g.120347346C>A	ENSP00000283871:p.Ala407Ser		A8K417|B2R8Z0	Missense_Mutation	SNP	pfam_Homogentis_dOase,superfamily_RmlC_Cupin,tigrfam_Homogentis_dOase	p.A407S	ENST00000283871.5	37	c.1219	CCDS3000.1	3	.	.	.	.	.	.	.	.	.	.	C	11.16	1.556776	0.27827	.	.	ENSG00000113924	ENST00000283871	D	0.98914	-5.23	5.11	5.11	0.69529	Cupin, RmlC-type (1);	0.000000	0.85682	D	0.000000	D	0.97390	0.9146	M	0.64260	1.97	0.80722	D	1	B	0.06786	0.001	B	0.11329	0.006	D	0.95912	0.8924	10	0.26408	T	0.33	-15.0952	17.7108	0.88321	0.0:1.0:0.0:0.0	.	407	Q93099	HGD_HUMAN	S	407	ENSP00000283871:A407S	ENSP00000283871:A407S	A	-	1	0	HGD	121830036	1.000000	0.71417	0.978000	0.43139	0.242000	0.25591	7.289000	0.78701	2.654000	0.90174	0.563000	0.77884	GCG	HGD	-	pfam_Homogentis_dOase,superfamily_RmlC_Cupin,tigrfam_Homogentis_dOase	ENSG00000113924		0.458	HGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HGD	HGNC	protein_coding	OTTHUMT00000355410.1	55	0.00	0	C			120347346	120347346	-1	no_errors	ENST00000283871	ensembl	human	known	69_37n	missense	32	51.52	34	SNP	1.000	A
IARS2	55699	genome.wustl.edu	37	1	220275717	220275717	+	Silent	SNP	C	C	A			TCGA-AQ-A54N-01A-11D-A25Q-09	TCGA-AQ-A54N-10A-01D-A25Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	292a1557-bc2e-449c-9d24-0ce01b5b2d65	2a07d013-012c-492a-90c2-0fcfe94b1c63	g.chr1:220275717C>A	ENST00000302637.5	+	5	816	c.712C>A	c.(712-714)Cga>Aga	p.R238R	IARS2_ENST00000366922.1_Silent_p.R166R	NM_018060.3	NP_060530.3	Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	238					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)	p.R238*(1)		NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	CTTGGTTTATCGATCTTACAA	0.318																																						dbGAP											1	Substitution - Nonsense(1)	skin(1)											116.0	114.0	115.0					1																	220275717		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK022665	CCDS1523.1	1q41	2011-07-01	2007-02-26		ENSG00000067704	ENSG00000067704	6.1.1.5	"""Aminoacyl tRNA synthetases / Class I"""	29685	protein-coding gene	gene with protein product	"""isoleucine tRNA ligase 2, mitochondrial"""	612801					Standard	NM_018060		Approved	FLJ10326	uc001hmc.3	Q9NSE4	OTTHUMG00000037287	ENST00000302637.5:c.712C>A	1.37:g.220275717C>A			B2RPG8|Q1M2P9|Q6PI85|Q7L439|Q86WU9|Q96D91|Q9H9Q8|Q9NW42	Silent	SNP	pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_Znf_DNA_glyclase/IsotRNA_synth,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Val/Leu/Ile-tRNA-synth_edit,prints_Ile-tRNA-synt,tigrfam_Ile-tRNA-synt	p.R238	ENST00000302637.5	37	c.712	CCDS1523.1	1																																																																																			IARS2	-	pfam_aa-tRNA-synth_Ia,pfam_Methionyl/Leucyl_tRNA_Synth,tigrfam_Ile-tRNA-synt	ENSG00000067704		0.318	IARS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	IARS2	HGNC	protein_coding		38	0.00	0	C	NM_018060		220275717	220275717	+1	no_errors	ENST00000302637	ensembl	human	known	69_37n	silent	36	25.00	12	SNP	1.000	A
IFNK	56832	genome.wustl.edu	37	9	27524538	27524538	+	Missense_Mutation	SNP	G	G	T			TCGA-AQ-A54N-01A-11D-A25Q-09	TCGA-AQ-A54N-10A-01D-A25Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	292a1557-bc2e-449c-9d24-0ce01b5b2d65	2a07d013-012c-492a-90c2-0fcfe94b1c63	g.chr9:27524538G>T	ENST00000276943.2	+	1	227	c.204G>T	c.(202-204)ttG>ttT	p.L68F	MOB3B_ENST00000262244.5_Intron	NM_020124.2	NP_064509.2	Q9P0W0	IFNK_HUMAN	interferon, kappa	68					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation (GO:0030101)|natural killer cell activation involved in immune response (GO:0002323)|negative regulation of cell proliferation (GO:0008285)|positive regulation of innate immune response (GO:0045089)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of transcription, DNA-templated (GO:0006355)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			large_intestine(1)	1		all_neural(11;7.9e-11)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.000158)		CTTTTGAGTTGCCCCAAGAGT	0.433																																						dbGAP											0													102.0	104.0	103.0					9																	27524538		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF384048	CCDS6521.1	9p21.2	2008-02-05			ENSG00000147896	ENSG00000147896		"""Interferons"""	21714	protein-coding gene	gene with protein product		615326				12391192, 11514542	Standard	NM_020124		Approved		uc003zqp.3	Q9P0W0	OTTHUMG00000019715	ENST00000276943.2:c.204G>T	9.37:g.27524538G>T	ENSP00000276943:p.Leu68Phe		Q5T166	Missense_Mutation	SNP	pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta	p.L68F	ENST00000276943.2	37	c.204	CCDS6521.1	9	.	.	.	.	.	.	.	.	.	.	G	5.527	0.282227	0.10458	.	.	ENSG00000147896	ENST00000276943	T	0.03065	4.06	5.88	-1.63	0.08345	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.135690	0.49916	N	0.000124	T	0.01320	0.0043	N	0.11064	0.09	0.18873	N	0.999986	B	0.17268	0.021	B	0.17098	0.017	T	0.44787	-0.9305	10	0.02654	T	1	-8.9913	2.3446	0.04268	0.1546:0.1073:0.3671:0.3709	.	68	Q9P0W0	IFNK_HUMAN	F	68	ENSP00000276943:L68F	ENSP00000276943:L68F	L	+	3	2	IFNK	27514538	0.005000	0.15991	0.452000	0.26994	0.908000	0.53690	-0.759000	0.04761	-0.136000	0.11475	0.555000	0.69702	TTG	IFNK	-	pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta	ENSG00000147896		0.433	IFNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFNK	HGNC	protein_coding	OTTHUMT00000051968.1	60	0.00	0	G	NM_020124		27524538	27524538	+1	no_errors	ENST00000276943	ensembl	human	known	69_37n	missense	29	53.97	34	SNP	0.369	T
IGHV3-33	28434	genome.wustl.edu	37	14	106815740	106815740	+	RNA	SNP	A	A	G	rs573297643	byFrequency	TCGA-AQ-A54N-01A-11D-A25Q-09	TCGA-AQ-A54N-10A-01D-A25Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	292a1557-bc2e-449c-9d24-0ce01b5b2d65	2a07d013-012c-492a-90c2-0fcfe94b1c63	g.chr14:106815740A>G	ENST00000390615.2	-	0	412									immunoglobulin heavy variable 3-33																		AGTAATACACAGCCGTGTCCT	0.562													A|||	2	0.000399361	0.0015	0.0	5008	,	,		11885	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													106.0	168.0	148.0					14																	106815740		1900	4131	6031	-	-	-			0			L06618		14q32.33	2012-02-10			ENSG00000211955	ENSG00000211955		"""Immunoglobulins / IGH locus"""	5596	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152077		14.37:g.106815740A>G				Silent	SNP	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like	p.A111	ENST00000390615.2	37	c.333		14																																																																																			IGHV3-33	-	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000211955		0.562	IGHV3-33-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IGHV3-33	HGNC	IG_V_gene	OTTHUMT00000325171.1	60	0.00	0	A	NG_001019		106815740	106815740	-1	no_stop_codon	ENST00000390615	ensembl	human	known	69_37n	silent	10	23.08	3	SNP	0.678	G
KDM6B	23135	genome.wustl.edu	37	17	7750324	7750324	+	Missense_Mutation	SNP	C	C	T			TCGA-AQ-A54N-01A-11D-A25Q-09	TCGA-AQ-A54N-10A-01D-A25Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	292a1557-bc2e-449c-9d24-0ce01b5b2d65	2a07d013-012c-492a-90c2-0fcfe94b1c63	g.chr17:7750324C>T	ENST00000448097.2	+	9	1230	c.899C>T	c.(898-900)cCa>cTa	p.P300L	KDM6B_ENST00000254846.5_Missense_Mutation_p.P300L			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	300	Pro-rich.				cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						TCAGCACCCCCAGAGCGCCAG	0.597																																						dbGAP											0													37.0	40.0	39.0					17																	7750324		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"""Chromatin-modifying enzymes / K-demethylases"""	29012	protein-coding gene	gene with protein product		611577	"""jumonji domain containing 3"", ""jumonji domain containing 3, histone lysine demethylase"""	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.899C>T	17.37:g.7750324C>T	ENSP00000412513:p.Pro300Leu		C9IZ40|Q96G33	Missense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.P300L	ENST00000448097.2	37	c.899		17	.	.	.	.	.	.	.	.	.	.	C	12.97	2.098034	0.37048	.	.	ENSG00000132510	ENST00000254846;ENST00000448097	T;T	0.06687	3.27;3.27	4.71	4.71	0.59529	.	0.282378	0.28262	N	0.015982	T	0.04407	0.0121	N	0.08118	0	0.37247	D	0.906387	B	0.25609	0.13	B	0.24701	0.055	T	0.47971	-0.9075	10	0.20519	T	0.43	-0.3436	10.5844	0.45273	0.1921:0.8079:0.0:0.0	.	300	O15054-1	.	L	300	ENSP00000254846:P300L;ENSP00000412513:P300L	ENSP00000254846:P300L	P	+	2	0	KDM6B	7691049	1.000000	0.71417	1.000000	0.80357	0.724000	0.41520	4.678000	0.61641	2.619000	0.88677	0.462000	0.41574	CCA	KDM6B	-	NULL	ENSG00000132510		0.597	KDM6B-002	KNOWN	basic	protein_coding	KDM6B	HGNC	protein_coding	OTTHUMT00000440248.1	34	0.00	0	C	XM_043272		7750324	7750324	+1	no_errors	ENST00000254846	ensembl	human	known	69_37n	missense	19	57.78	26	SNP	1.000	T
KLK12	43849	genome.wustl.edu	37	19	51537845	51537845	+	Silent	SNP	A	A	G			TCGA-AQ-A54N-01A-11D-A25Q-09	TCGA-AQ-A54N-10A-01D-A25Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	292a1557-bc2e-449c-9d24-0ce01b5b2d65	2a07d013-012c-492a-90c2-0fcfe94b1c63	g.chr19:51537845A>G	ENST00000525263.1	-	1	152	c.33T>C	c.(31-33)gtT>gtC	p.V11V	CTC-518B2.9_ENST00000594910.1_RNA|KLK12_ENST00000529888.1_Silent_p.V11V|KLK12_ENST00000250352.11_5'UTR|KLK12_ENST00000250351.4_Silent_p.V11V|KLK12_ENST00000319590.4_Silent_p.V11V			Q9UKR0	KLK12_HUMAN	kallikrein-related peptidase 12	11					proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	12		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399)		ACTCACCAAGAACACACAGGA	0.607																																						dbGAP											0													72.0	66.0	68.0					19																	51537845		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS12820.1, CCDS12821.1, CCDS54298.1	19q13.33	2008-02-05	2006-10-27		ENSG00000186474	ENSG00000186474		"""Kallikreins"""	6360	protein-coding gene	gene with protein product		605539	"""kallikrein 12"""			16800724, 16800723	Standard	NM_019598		Approved	KLK-L5	uc002pvh.1	Q9UKR0	OTTHUMG00000165806	ENST00000525263.1:c.33T>C	19.37:g.51537845A>G			Q9UKR1|Q9UKR2	Silent	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_Peptidase_S1_S6	p.V11	ENST00000525263.1	37	c.33	CCDS12821.1	19																																																																																			KLK12	-	superfamily_Pept_cys/ser_Trypsin-like	ENSG00000186474		0.607	KLK12-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	KLK12	HGNC	protein_coding	OTTHUMT00000386288.1	36	0.00	0	A	NM_019598		51537845	51537845	-1	no_errors	ENST00000250351	ensembl	human	known	69_37n	silent	24	46.67	21	SNP	0.000	G
LRP1	4035	genome.wustl.edu	37	12	57552402	57552402	+	Silent	SNP	G	G	T			TCGA-AQ-A54N-01A-11D-A25Q-09	TCGA-AQ-A54N-10A-01D-A25Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	292a1557-bc2e-449c-9d24-0ce01b5b2d65	2a07d013-012c-492a-90c2-0fcfe94b1c63	g.chr12:57552402G>T	ENST00000243077.3	+	11	2245	c.1779G>T	c.(1777-1779)cgG>cgT	p.R593R		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	593					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GCACTGAGCGGGAGACCATCC	0.617																																						dbGAP											0													78.0	71.0	73.0					12																	57552402		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.1779G>T	12.37:g.57552402G>T			Q2PP12|Q86SW0|Q8IVG8	Silent	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd,smart_EGF-like,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.R593	ENST00000243077.3	37	c.1779	CCDS8932.1	12																																																																																			LRP1	-	smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt	ENSG00000123384		0.617	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1	HGNC	protein_coding	OTTHUMT00000412772.2	29	0.00	0	G	NM_002332		57552402	57552402	+1	no_errors	ENST00000243077	ensembl	human	known	69_37n	silent	13	59.38	19	SNP	0.999	T
LRRC55	219527	genome.wustl.edu	37	11	56949607	56949607	+	Missense_Mutation	SNP	C	C	G			TCGA-AQ-A54N-01A-11D-A25Q-09	TCGA-AQ-A54N-10A-01D-A25Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	292a1557-bc2e-449c-9d24-0ce01b5b2d65	2a07d013-012c-492a-90c2-0fcfe94b1c63	g.chr11:56949607C>G	ENST00000497933.1	+	1	387	c.240C>G	c.(238-240)agC>agG	p.S80R		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	50					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						CCGGCACCAGCTGCCCCGTCC	0.642																																						dbGAP											0													47.0	50.0	49.0					11																	56949607		2201	4296	6497	-	-	-	SO:0001583	missense	0				CCDS31539.1	11q12.1	2008-02-05			ENSG00000183908	ENSG00000183908			32324	protein-coding gene	gene with protein product		615213					Standard	NM_001005210		Approved	FLJ45686	uc001njl.2	Q6ZSA7	OTTHUMG00000159309	ENST00000497933.1:c.240C>G	11.37:g.56949607C>G	ENSP00000419542:p.Ser80Arg		A7E2U7|B2RN81	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.S80R	ENST00000497933.1	37	c.240	CCDS31539.1	11	.	.	.	.	.	.	.	.	.	.	C	12.13	1.844729	0.32606	.	.	ENSG00000183908	ENST00000497933	T	0.42131	0.98	5.8	4.88	0.63580	Leucine-rich repeat-containing N-terminal (1);	0.000000	0.64402	D	0.000001	T	0.39835	0.1093	L	0.45228	1.405	0.46927	D	0.999253	B	0.28258	0.205	B	0.35971	0.215	T	0.32613	-0.9900	10	0.54805	T	0.06	.	11.2311	0.48912	0.0:0.9132:0.0:0.0868	.	50	Q6ZSA7	LRC55_HUMAN	R	80	ENSP00000419542:S80R	ENSP00000419542:S80R	S	+	3	2	LRRC55	56706183	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	1.860000	0.39428	1.422000	0.47177	0.655000	0.94253	AGC	LRRC55	-	smart_LRR-contain_N	ENSG00000183908		0.642	LRRC55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC55	HGNC	protein_coding	OTTHUMT00000354503.2	110	0.00	0	C	NM_001005210		56949607	56949607	+1	no_errors	ENST00000497933	ensembl	human	known	69_37n	missense	42	34.38	22	SNP	1.000	G
MACF1	23499	genome.wustl.edu	37	1	39851166	39851166	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AQ-A54N-01A-11D-A25Q-09	TCGA-AQ-A54N-10A-01D-A25Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	292a1557-bc2e-449c-9d24-0ce01b5b2d65	2a07d013-012c-492a-90c2-0fcfe94b1c63	g.chr1:39851166C>T	ENST00000372915.3	+	56	14011	c.13924C>T	c.(13924-13926)Cag>Tag	p.Q4642*	MACF1_ENST00000361689.2_Nonsense_Mutation_p.Q2575*|MACF1_ENST00000567887.1_Nonsense_Mutation_p.Q4674*|MACF1_ENST00000564288.1_Nonsense_Mutation_p.Q4637*|MACF1_ENST00000539005.1_Nonsense_Mutation_p.Q2554*|MACF1_ENST00000289893.4_Nonsense_Mutation_p.Q3077*|MACF1_ENST00000317713.7_Nonsense_Mutation_p.Q2575*|MACF1_ENST00000545844.1_Nonsense_Mutation_p.Q2575*			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4642					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGAGGCAGCTCAGGGCATCCT	0.453																																						dbGAP											0													59.0	54.0	56.0					1																	39851166		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.13924C>T	1.37:g.39851166C>T	ENSP00000362006:p.Gln4642*		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Nonsense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.Q2575*	ENST00000372915.3	37	c.7723		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	44|44	11.013338|11.013338	0.99503|0.99503	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893|ENST00000372925	.|.	.|.	.|.	6.1|6.1	6.1|6.1	0.99115|0.99115	.|.	0.000000|.	0.64402|.	D|.	0.000019|.	.|T	.|0.70824	.|0.3268	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.68010	.|-0.5522	.|4	0.40728|.	T|.	0.16|.	.|.	13.8544|13.8544	0.63517|0.63517	0.0:0.9307:0.0:0.0693|0.0:0.9307:0.0:0.0693	.|.	.|.	.|.	.|.	X|L	2575;4642;2575;2575;2554;3077|1687	.|.	ENSP00000289893:Q3077X|.	Q|S	+|+	1|2	0|0	MACF1|MACF1	39623753|39623753	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	4.063000|4.063000	0.57499|0.57499	2.902000|2.902000	0.99343|0.99343	0.650000|0.650000	0.86243|0.86243	CAG|TCA	MACF1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000127603		0.453	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	HGNC	protein_coding	OTTHUMT00000392096.1	44	0.00	0	C	NM_033044		39851166	39851166	+1	no_errors	ENST00000317713	ensembl	human	known	69_37n	nonsense	36	20.00	9	SNP	1.000	T
MYH7B	57644	genome.wustl.edu	37	20	33583233	33583233	+	Missense_Mutation	SNP	G	G	C			TCGA-AQ-A54N-01A-11D-A25Q-09	TCGA-AQ-A54N-10A-01D-A25Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	292a1557-bc2e-449c-9d24-0ce01b5b2d65	2a07d013-012c-492a-90c2-0fcfe94b1c63	g.chr20:33583233G>C	ENST00000262873.7	+	26	3013	c.2921G>C	c.(2920-2922)cGg>cCg	p.R974P		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	932						membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CTGAGTGAGCGGCTGGAGGAT	0.622																																						dbGAP											0													52.0	55.0	54.0					20																	33583233		2201	4299	6500	-	-	-	SO:0001583	missense	0			AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"""Myosins / Myosin superfamily : Class II"""	15906	protein-coding gene	gene with protein product		609928	"""myosin, heavy polypeptide 7B, cardiac muscle, beta"""			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.2921G>C	20.37:g.33583233G>C	ENSP00000262873:p.Arg974Pro		Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Myosin_S1_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R974P	ENST00000262873.7	37	c.2921	CCDS42869.1	20	.	.	.	.	.	.	.	.	.	.	G	33	5.232145	0.95207	.	.	ENSG00000078814	ENST00000262873	D	0.96459	-4.02	5.24	5.24	0.73138	.	0.000000	0.32852	N	0.005570	D	0.98975	0.9651	H	0.98256	4.185	0.58432	D	0.999997	D	0.89917	1.0	D	0.85130	0.997	D	0.99226	1.0880	10	0.87932	D	0	.	19.0086	0.92863	0.0:0.0:1.0:0.0	.	932	A7E2Y1	MYH7B_HUMAN	P	974	ENSP00000262873:R974P	ENSP00000262873:R974P	R	+	2	0	MYH7B	33046894	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.652000	0.98499	2.732000	0.93576	0.655000	0.94253	CGG	MYH7B	-	NULL	ENSG00000078814		0.622	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MYH7B	HGNC	protein_coding	OTTHUMT00000078833.2	79	0.00	0	G	NM_020884		33583233	33583233	+1	no_errors	ENST00000262873	ensembl	human	novel	69_37n	missense	20	58.33	28	SNP	1.000	C
NOTCH3	4854	genome.wustl.edu	37	19	15271746	15271747	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AQ-A54N-01A-11D-A25Q-09	TCGA-AQ-A54N-10A-01D-A25Q-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	292a1557-bc2e-449c-9d24-0ce01b5b2d65	2a07d013-012c-492a-90c2-0fcfe94b1c63	g.chr19:15271746_15271747insG	ENST00000263388.2	-	33	6767_6768	c.6692_6693insC	c.(6691-6693)ccafs	p.P2231fs		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	2231					forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			AGCGGGCCTTTGGGGGGCTGCT	0.708																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.6693dupC	19.37:g.15271752_15271752dupG	ENSP00000263388:p.Pro2231fs		Q9UEB3|Q9UPL3|Q9Y6L8	Frame_Shift_Ins	INS	pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_3,prints_Notch_dom	p.A2233fs	ENST00000263388.2	37	c.6693_6692	CCDS12326.1	19																																																																																			NOTCH3	-	pfam_DUF3454_notch,pirsf_Notch	ENSG00000074181		0.708	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH3	HGNC	protein_coding	OTTHUMT00000465714.1	20	0.00	0	-	NM_000435		15271746	15271747	-1	no_errors	ENST00000263388	ensembl	human	known	69_37n	frame_shift_ins	7	83.33	35	INS	0.009:0.128	G
NRXN1	9378	genome.wustl.edu	37	2	50723212	50723212	+	Missense_Mutation	SNP	A	A	T			TCGA-AQ-A54N-01A-11D-A25Q-09	TCGA-AQ-A54N-10A-01D-A25Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	292a1557-bc2e-449c-9d24-0ce01b5b2d65	2a07d013-012c-492a-90c2-0fcfe94b1c63	g.chr2:50723212A>T	ENST00000406316.2	-	15	4377	c.2901T>A	c.(2899-2901)gaT>gaA	p.D967E	NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406859.3_Missense_Mutation_p.D967E|NRXN1_ENST00000405472.3_Missense_Mutation_p.D959E|NRXN1_ENST00000401710.1_5'UTR|NRXN1_ENST00000401669.2_Missense_Mutation_p.D967E|NRXN1_ENST00000402717.3_Missense_Mutation_p.D959E|NRXN1_ENST00000404971.1_Missense_Mutation_p.D1007E	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	967	Laminin G-like 5. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CATTTCCCAAATCAAACACGT	0.388																																						dbGAP											0													85.0	70.0	74.0					2																	50723212		1897	4131	6028	-	-	-	SO:0001583	missense	0			AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.2901T>A	2.37:g.50723212A>T	ENSP00000384311:p.Asp967Glu		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_EGF-like,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G	p.D959E	ENST00000406316.2	37	c.2877	CCDS54360.1	2	.	.	.	.	.	.	.	.	.	.	A	20.5	3.994452	0.74703	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T	0.80909	-1.43;-1.43;-1.43;-1.43;-1.43;-1.43	5.17	-0.36	0.12568	.	0.000000	0.85682	D	0.000000	D	0.86916	0.6048	M	0.73598	2.24	0.32117	N	0.588511	D;D;D	0.89917	0.993;1.0;1.0	D;D;D	0.87578	0.947;0.998;0.988	D	0.86996	0.2113	10	0.72032	D	0.01	.	11.6108	0.51057	0.4787:0.0:0.5213:0.0	.	1007;967;959	Q9ULB1-3;F8WB18;A7E294	.;.;.	E	1007;967;959;967;1008;959;967	ENSP00000385142:D1007E;ENSP00000384311:D967E;ENSP00000434015:D959E;ENSP00000385017:D967E;ENSP00000385434:D959E;ENSP00000385681:D967E	ENSP00000385017:D967E	D	-	3	2	NRXN1	50576716	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	0.766000	0.26560	0.059000	0.16252	0.528000	0.53228	GAT	NRXN1	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G	ENSG00000179915		0.388	NRXN1-001	KNOWN	basic|CCDS	protein_coding	NRXN1	HGNC	protein_coding	OTTHUMT00000325291.2	95	0.00	0	A			50723212	50723212	-1	no_errors	ENST00000402717	ensembl	human	known	69_37n	missense	32	64.04	57	SNP	0.996	T
OCRL	4952	genome.wustl.edu	37	X	128724525	128724525	+	3'UTR	SNP	G	G	A	rs2071706	byFrequency	TCGA-AQ-A54N-01A-11D-A25Q-09	TCGA-AQ-A54N-10A-01D-A25Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	292a1557-bc2e-449c-9d24-0ce01b5b2d65	2a07d013-012c-492a-90c2-0fcfe94b1c63	g.chrX:128724525G>A	ENST00000371113.4	+	0	3149				OCRL_ENST00000357121.5_3'UTR	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe						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)			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						CCTTCACCTAGGGATGTGTTT	0.393													G|||	627	0.166093	0.0734	0.0951	3775	,	,		16675	0.1558		0.162	False		,,,				2504	0.1472					dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			U57627	CCDS35393.1, CCDS35394.1	Xq25	2014-06-18			ENSG00000122126	ENSG00000122126			8108	protein-coding gene	gene with protein product		300535					Standard	NM_001587		Approved	OCRL1	uc004euq.3	Q01968	OTTHUMG00000022706	ENST00000371113.4:c.*278G>A	X.37:g.128724525G>A			A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	RNA	SNP	-	NULL	ENST00000371113.4	37	NULL	CCDS35393.1	X																																																																																			OCRL	-	-	ENSG00000122126		0.393	OCRL-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	OCRL	HGNC	protein_coding	OTTHUMT00000058917.1	35	0.00	0	G	NM_000276		128724525	128724525	+1	no_errors	ENST00000463271	ensembl	human	known	69_37n	rna	21	12.50	3	SNP	0.030	A
PARG	8505	genome.wustl.edu	37	10	51077584	51077584	+	Missense_Mutation	SNP	G	G	A			TCGA-AQ-A54N-01A-11D-A25Q-09	TCGA-AQ-A54N-10A-01D-A25Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	292a1557-bc2e-449c-9d24-0ce01b5b2d65	2a07d013-012c-492a-90c2-0fcfe94b1c63	g.chr10:51077584G>A	ENST00000402038.3	-	6	550	c.551C>T	c.(550-552)tCa>tTa	p.S184L		NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN	poly (ADP-ribose) glycohydrolase	669	A-domain.				carbohydrate metabolic process (GO:0005975)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	poly(ADP-ribose) glycohydrolase activity (GO:0004649)			endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		TTTCCTTGATGAACGTCCCTC	0.328																																						dbGAP											0													97.0	74.0	81.0					10																	51077584		692	1591	2283	-	-	-	SO:0001583	missense	0			AF005043	CCDS73130.1	10q11.23	2012-04-20			ENSG00000227345	ENSG00000227345	3.2.1.143		8605	protein-coding gene	gene with protein product		603501				9115250, 10449915	Standard	NM_003631		Approved		uc001jif.3	Q86W56	OTTHUMG00000018201	ENST00000402038.3:c.551C>T	10.37:g.51077584G>A	ENSP00000384408:p.Ser184Leu		A5YBK3|B2RC24|B4DIU5|B4DYR4|I6RUV3|Q6E4P6|Q6E4P7|Q7Z742|Q9Y4W7	Missense_Mutation	SNP	pfam_Poly_GlycHdrlase	p.S184L	ENST00000402038.3	37	c.551		10	.	.	.	.	.	.	.	.	.	.	g	18.01	3.526637	0.64860	.	.	ENSG00000227345	ENST00000402038	.	.	.	3.71	3.71	0.42584	.	0.000000	0.64402	U	0.000020	T	0.72748	0.3499	M	0.70595	2.14	.	.	.	D;D;D;D;D;D	0.89917	1.0;1.0;0.994;0.977;0.997;1.0	D;D;D;P;D;D	0.77004	0.982;0.989;0.91;0.826;0.95;0.989	T	0.78633	-0.2128	8	0.44086	T	0.13	-2.8649	14.0262	0.64586	0.0:0.0:1.0:0.0	.	587;669;220;184;209;669	Q86W56-2;Q86W56;A5YBK3;Q5SQP4;B4DX76;Q0MQR4	.;PARG_HUMAN;.;.;.;.	L	184	.	ENSP00000384408:S184L	S	-	2	0	PARG	50747590	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	7.548000	0.82154	1.805000	0.52779	0.306000	0.20318	TCA	PARG	-	pfam_Poly_GlycHdrlase	ENSG00000227345		0.328	PARG-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	PARG	HGNC	protein_coding	OTTHUMT00000048011.2	277	0.00	0	G	NM_003631		51077584	51077584	-1	no_start_codon	ENST00000402038	ensembl	human	known	69_37n	missense	208	46.25	179	SNP	1.000	A
PARP10	84875	genome.wustl.edu	37	8	145057586	145057586	+	Missense_Mutation	SNP	C	C	A			TCGA-AQ-A54N-01A-11D-A25Q-09	TCGA-AQ-A54N-10A-01D-A25Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	292a1557-bc2e-449c-9d24-0ce01b5b2d65	2a07d013-012c-492a-90c2-0fcfe94b1c63	g.chr8:145057586C>A	ENST00000313028.7	-	8	2265	c.2171G>T	c.(2170-2172)cGg>cTg	p.R724L	PARP10_ENST00000524918.1_Missense_Mutation_p.R715L|PARP10_ENST00000525773.1_Missense_Mutation_p.R736L|PARP10_ENST00000533665.1_5'Flank	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	724	Myc binding.				negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of gene expression (GO:0010629)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of protein K63-linked ubiquitination (GO:1900045)|negative regulation of viral genome replication (GO:0045071)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein poly-ADP-ribosylation (GO:0070212)|regulation of chromatin assembly (GO:0010847)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCTGAGCGCCCGGTCCAGCTC	0.697																																						dbGAP											0													15.0	15.0	15.0					8																	145057586		2199	4296	6495	-	-	-	SO:0001583	missense	0			AK027370	CCDS34960.1	8q24	2010-02-16				ENSG00000178685		"""Poly (ADP-ribose) polymerases"""	25895	protein-coding gene	gene with protein product		609564				15273990	Standard	NM_032789		Approved	FLJ14464	uc003zal.4	Q53GL7		ENST00000313028.7:c.2171G>T	8.37:g.145057586C>A	ENSP00000325618:p.Arg724Leu		Q8N2I0|Q8WV05|Q96CH7|Q96K72	Missense_Mutation	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.R724L	ENST00000313028.7	37	c.2171	CCDS34960.1	8	.	.	.	.	.	.	.	.	.	.	C	8.233	0.805178	0.16467	.	.	ENSG00000178685	ENST00000524918;ENST00000534861;ENST00000313028;ENST00000525773	T;T;T	0.10192	2.9;2.9;2.9	5.09	-6.3	0.02007	Ubiquitin interacting motif (1);	1.180370	0.06240	N	0.690197	T	0.06096	0.0158	N	0.19112	0.55	0.09310	N	1	B;B	0.28055	0.199;0.199	B;B	0.26693	0.072;0.072	T	0.41556	-0.9502	10	0.19147	T	0.46	.	10.5088	0.44849	0.0:0.1631:0.1136:0.7233	.	736;724	E9PNI7;Q53GL7	.;PAR10_HUMAN	L	715;430;724;736	ENSP00000431620:R715L;ENSP00000325618:R724L;ENSP00000434776:R736L	ENSP00000325618:R724L	R	-	2	0	PARP10	145129574	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.960000	0.01517	-0.921000	0.03794	-0.856000	0.03024	CGG	PARP10	-	NULL	ENSG00000178685		0.697	PARP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PARP10	HGNC	protein_coding	OTTHUMT00000383866.1	62	0.00	0	C	NM_032789		145057586	145057586	-1	no_errors	ENST00000313028	ensembl	human	known	69_37n	missense	5	80.77	21	SNP	0.000	A
PCNT	5116	genome.wustl.edu	37	21	47783734	47783734	+	Missense_Mutation	SNP	G	G	A	rs535351693		TCGA-AQ-A54N-01A-11D-A25Q-09	TCGA-AQ-A54N-10A-01D-A25Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	292a1557-bc2e-449c-9d24-0ce01b5b2d65	2a07d013-012c-492a-90c2-0fcfe94b1c63	g.chr21:47783734G>A	ENST00000359568.5	+	14	2601	c.2494G>A	c.(2494-2496)Gac>Aac	p.D832N	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	832					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CACTTCAGACGACGCCCTGCA	0.652																																						dbGAP											0													69.0	78.0	75.0					21																	47783734		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.2494G>A	21.37:g.47783734G>A	ENSP00000352572:p.Asp832Asn		O43152|Q7Z7C9	Missense_Mutation	SNP	pfam_PACT_domain	p.D832N	ENST00000359568.5	37	c.2494	CCDS33592.1	21	.	.	.	.	.	.	.	.	.	.	G	14.24	2.477638	0.44044	.	.	ENSG00000160299	ENST00000359568	T	0.25912	1.77	4.39	4.39	0.52855	.	0.571562	0.13323	N	0.396488	T	0.12774	0.0310	N	0.14661	0.345	0.09310	N	1	P;P	0.45078	0.792;0.85	B;B	0.31245	0.126;0.125	T	0.07966	-1.0745	10	0.42905	T	0.14	.	11.5209	0.50551	0.0:0.1979:0.8021:0.0	.	714;832	O95613-2;O95613	.;PCNT_HUMAN	N	832	ENSP00000352572:D832N	ENSP00000352572:D832N	D	+	1	0	PCNT	46608162	0.995000	0.38212	0.082000	0.20525	0.002000	0.02628	3.577000	0.53885	2.388000	0.81334	0.591000	0.81541	GAC	PCNT	-	NULL	ENSG00000160299		0.652	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNT	HGNC	protein_coding	OTTHUMT00000207336.1	52	0.00	0	G	NM_006031		47783734	47783734	+1	no_errors	ENST00000359568	ensembl	human	known	69_37n	missense	11	56.00	14	SNP	0.084	A
PGGT1B	5229	genome.wustl.edu	37	5	114573581	114573581	+	Missense_Mutation	SNP	C	C	G			TCGA-AQ-A54N-01A-11D-A25Q-09	TCGA-AQ-A54N-10A-01D-A25Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	292a1557-bc2e-449c-9d24-0ce01b5b2d65	2a07d013-012c-492a-90c2-0fcfe94b1c63	g.chr5:114573581C>G	ENST00000419445.1	-	4	473	c.453G>C	c.(451-453)ttG>ttC	p.L151F	PGGT1B_ENST00000379615.3_Missense_Mutation_p.L151F	NM_005023.3	NP_005014.2	P53609	PGTB1_HUMAN	protein geranylgeranyltransferase type I, beta subunit	151					negative regulation of nitric-oxide synthase biosynthetic process (GO:0051771)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|protein geranylgeranylation (GO:0018344)|response to cytokine (GO:0034097)	CAAX-protein geranylgeranyltransferase complex (GO:0005953)	CAAX-protein geranylgeranyltransferase activity (GO:0004662)|protein geranylgeranyltransferase activity (GO:0004661)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(2)|lung(1)	6		all_cancers(142;0.000523)|all_epithelial(76;6.45e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		Epithelial(69;2.95e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.98e-08)|all cancers(49;3.1e-06)		GAAGGGCTCTCAAGCCCGCTA	0.388																																						dbGAP											0													74.0	79.0	77.0					5																	114573581		2201	4300	6501	-	-	-	SO:0001583	missense	0				CCDS4116.1	5q23.1	2008-02-05			ENSG00000164219	ENSG00000164219			8895	protein-coding gene	gene with protein product		602031				8106351	Standard	NM_005023		Approved	GGTI, BGGI	uc003kqw.4	P53609	OTTHUMG00000128893	ENST00000419445.1:c.453G>C	5.37:g.114573581C>G	ENSP00000404676:p.Leu151Phe		Q5MJP9	Missense_Mutation	SNP	pfam_Prenyltrans,superfamily_Terpenoid_cyclase/PrenylTrfase	p.L151F	ENST00000419445.1	37	c.453	CCDS4116.1	5	.	.	.	.	.	.	.	.	.	.	C	16.20	3.055957	0.55325	.	.	ENSG00000164219	ENST00000419445;ENST00000379615	T;T	0.60299	0.2;0.2	5.47	4.6	0.57074	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);	0.062492	0.64402	D	0.000004	T	0.79834	0.4514	M	0.92122	3.275	0.54753	D	0.999982	D;D	0.89917	1.0;1.0	D;D	0.83275	0.988;0.996	D	0.83633	0.0146	10	0.72032	D	0.01	-11.2046	11.1259	0.48317	0.0:0.7341:0.1952:0.0706	.	151;151	P53609-2;P53609	.;PGTB1_HUMAN	F	151	ENSP00000404676:L151F;ENSP00000368935:L151F	ENSP00000368935:L151F	L	-	3	2	PGGT1B	114601480	1.000000	0.71417	0.999000	0.59377	0.719000	0.41307	1.523000	0.35932	1.438000	0.47492	0.655000	0.94253	TTG	PGGT1B	-	pfam_Prenyltrans,superfamily_Terpenoid_cyclase/PrenylTrfase	ENSG00000164219		0.388	PGGT1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGGT1B	HGNC	protein_coding	OTTHUMT00000250855.2	47	0.00	0	C	NM_005023		114573581	114573581	-1	no_errors	ENST00000419445	ensembl	human	known	69_37n	missense	4	81.82	18	SNP	1.000	G
PIBF1	10464	genome.wustl.edu	37	13	73409505	73409506	+	Splice_Site	INS	-	-	G			TCGA-AQ-A54N-01A-11D-A25Q-09	TCGA-AQ-A54N-10A-01D-A25Q-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	292a1557-bc2e-449c-9d24-0ce01b5b2d65	2a07d013-012c-492a-90c2-0fcfe94b1c63	g.chr13:73409505_73409506insG	ENST00000326291.6	+	9	1560_1561	c.1222_1223insG	c.(1222-1224)aga>aGga	p.R408fs		NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	408						centrosome (GO:0005813)				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		ACGAGAAAACAGGTAAAAAAAA	0.262																																						dbGAP											0																																										-	-	-	SO:0001630	splice_region_variant	0			AF330046	CCDS31991.1	13q21.33	2014-02-20	2007-10-17	2007-10-17	ENSG00000083535	ENSG00000083535			23352	protein-coding gene	gene with protein product	"""progesterone-induced blocking factor 1"""	607532	"""chromosome 13 open reading frame 24"""	C13orf24		11935316	Standard	NM_006346		Approved	CEP90	uc001vjc.3	Q8WXW3	OTTHUMG00000017071	ENST00000326291.6:c.1223+1->G	13.37:g.73409507_73409507dupG			O95664|Q6U9V2|Q6UG50|Q86V07|Q96SF4	Frame_Shift_Ins	INS	superfamily_t-SNARE	p.N409fs	ENST00000326291.6	37	c.1222_1223	CCDS31991.1	13																																																																																			PIBF1	-	NULL	ENSG00000083535		0.262	PIBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIBF1	HGNC	protein_coding	OTTHUMT00000045255.1	29	0.00	0	-	NM_006346	Frame_Shift_Ins	73409505	73409506	+1	no_errors	ENST00000326291	ensembl	human	known	69_37n	frame_shift_ins	16	15.79	3	INS	1.000:1.000	G
PLEKHM1	9842	genome.wustl.edu	37	17	43517503	43517503	+	Intron	SNP	G	G	A			TCGA-AQ-A54N-01A-11D-A25Q-09	TCGA-AQ-A54N-10A-01D-A25Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	292a1557-bc2e-449c-9d24-0ce01b5b2d65	2a07d013-012c-492a-90c2-0fcfe94b1c63	g.chr17:43517503G>A	ENST00000430334.3	-	10	3035				PLEKHM1_ENST00000421073.2_Intron|PLEKHM1_ENST00000580404.1_Intron	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1						intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					CTAGAGGTCTGGGCGGGGGAA	0.478																																						dbGAP											0													53.0	52.0	53.0					17																	43517503		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			X85792	CCDS32671.1	17q21.31	2013-01-11				ENSG00000225190		"""Pleckstrin homology (PH) domain containing"""	29017	protein-coding gene	gene with protein product		611466				9205841, 12820725	Standard	NM_014798		Approved	KIAA0356	uc002ija.3	Q9Y4G2		ENST00000430334.3:c.2901+25C>T	17.37:g.43517503G>A			Q6P2R5|Q8TEL9|Q9NPP5|Q9NYA0	Missense_Mutation	SNP	NULL	p.P43L	ENST00000430334.3	37	c.128	CCDS32671.1	17																																																																																			PLEKHM1	-	NULL	ENSG00000225190		0.478	PLEKHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHM1	HGNC	protein_coding	OTTHUMT00000444659.1	54	0.00	0	G	NM_014798		43517503	43517503	-1	no_errors	ENST00000590991	ensembl	human	known	69_37n	missense	7	30.00	3	SNP	0.000	A
PLXNB2	23654	genome.wustl.edu	37	22	50721794	50721794	+	Missense_Mutation	SNP	G	G	A			TCGA-AQ-A54N-01A-11D-A25Q-09	TCGA-AQ-A54N-10A-01D-A25Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	292a1557-bc2e-449c-9d24-0ce01b5b2d65	2a07d013-012c-492a-90c2-0fcfe94b1c63	g.chr22:50721794G>A	ENST00000449103.1	-	16	2791	c.2651C>T	c.(2650-2652)tCg>tTg	p.S884L	PLXNB2_ENST00000359337.4_Missense_Mutation_p.S884L|PLXNB2_ENST00000496720.1_5'UTR			O15031	PLXB2_HUMAN	plexin B2	884	IPT/TIG 1.				brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		ATTGGGAGGCGAACGGCCCAG	0.682																																						dbGAP											0													54.0	62.0	59.0					22																	50721794		2032	4182	6214	-	-	-	SO:0001583	missense	0				CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.2651C>T	22.37:g.50721794G>A	ENSP00000409171:p.Ser884Leu		A6QRH0|Q7KZU3|Q9BSU7	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.S884L	ENST00000449103.1	37	c.2651	CCDS43035.1	22	.	.	.	.	.	.	.	.	.	.	G	13.72	2.321557	0.41096	.	.	ENSG00000196576	ENST00000449103;ENST00000359337	T;T	0.77620	-1.11;-1.11	3.85	3.85	0.44370	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.331703	0.21919	N	0.067191	T	0.75510	0.3859	L	0.27053	0.805	0.09310	N	0.999991	D	0.76494	0.999	D	0.64877	0.93	T	0.63233	-0.6683	10	0.20519	T	0.43	.	8.9471	0.35764	0.0:0.0:0.778:0.222	.	884	O15031	PLXB2_HUMAN	L	884	ENSP00000409171:S884L;ENSP00000352288:S884L	ENSP00000352288:S884L	S	-	2	0	PLXNB2	49063921	0.835000	0.29415	0.022000	0.16811	0.002000	0.02628	4.324000	0.59228	2.126000	0.65437	0.561000	0.74099	TCG	PLXNB2	-	pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt	ENSG00000196576		0.682	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNB2	HGNC	protein_coding	OTTHUMT00000316874.3	85	0.00	0	G	NM_012401		50721794	50721794	-1	no_errors	ENST00000359337	ensembl	human	known	69_37n	missense	8	82.22	37	SNP	0.014	A
PPP1R10	5514	genome.wustl.edu	37	6	30569978	30569978	+	Silent	SNP	A	A	G			TCGA-AQ-A54N-01A-11D-A25Q-09	TCGA-AQ-A54N-10A-01D-A25Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	292a1557-bc2e-449c-9d24-0ce01b5b2d65	2a07d013-012c-492a-90c2-0fcfe94b1c63	g.chr6:30569978A>G	ENST00000376511.2	-	19	3000	c.2448T>C	c.(2446-2448)caT>caC	p.H816H		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	816	Gly-rich.				protein import into nucleus (GO:0006606)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						CAGGGCCTTCATGGGGACGAT	0.662																																						dbGAP											0													144.0	149.0	147.0					6																	30569978		1508	2709	4217	-	-	-	SO:0001819	synonymous_variant	0			Y13247	CCDS4681.1	6p21.3	2012-04-17	2011-10-04		ENSG00000204569	ENSG00000204569		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9284	protein-coding gene	gene with protein product	"""phosphatase 1 nuclear targeting subunit"", ""HLA-C associated transcript 53"""	603771	"""protein phosphatase 1, regulatory (inhibitor) subunit 10"""			9461602, 9784381	Standard	NM_002714		Approved	PNUTS, FB19, CAT53, p99	uc003nqn.2	Q96QC0	OTTHUMG00000031259	ENST00000376511.2:c.2448T>C	6.37:g.30569978A>G			O00405	Silent	SNP	pfam_TFIIS_N,pfam_Znf_CCCH,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,smart_Znf_CCCH	p.H816	ENST00000376511.2	37	c.2448	CCDS4681.1	6																																																																																			PPP1R10	-	NULL	ENSG00000204569		0.662	PPP1R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R10	HGNC	protein_coding	OTTHUMT00000076556.2	87	0.00	0	A	NM_002714		30569978	30569978	-1	no_errors	ENST00000376511	ensembl	human	known	69_37n	silent	42	23.64	13	SNP	0.954	G
RGPD4	285190	genome.wustl.edu	37	2	108473239	108473239	+	Missense_Mutation	SNP	C	C	T			TCGA-AQ-A54N-01A-11D-A25Q-09	TCGA-AQ-A54N-10A-01D-A25Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	292a1557-bc2e-449c-9d24-0ce01b5b2d65	2a07d013-012c-492a-90c2-0fcfe94b1c63	g.chr2:108473239C>T	ENST00000408999.3	+	9	1167	c.1090C>T	c.(1090-1092)Cgt>Tgt	p.R364C	RGPD4_ENST00000354986.4_Missense_Mutation_p.R364C	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	364					protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						AAACTTAAGTCGTGGCAAGCA	0.343																																						dbGAP											0													1.0	1.0	1.0					2																	108473239		35	125	160	-	-	-	SO:0001583	missense	0			BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"""Tetratricopeptide (TTC) repeat domain containing"""	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.1090C>T	2.37:g.108473239C>T	ENSP00000386810:p.Arg364Cys		B9A029	Missense_Mutation	SNP	pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR-1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom	p.R364C	ENST00000408999.3	37	c.1090	CCDS46381.1	2	.	.	.	.	.	.	.	.	.	.	-	11.37	1.617639	0.28801	.	.	ENSG00000196862	ENST00000354986;ENST00000408999;ENST00000439322	T;T	0.33654	1.4;1.4	2.69	2.69	0.31865	.	.	.	.	.	T	0.25717	0.0626	L	0.51422	1.61	0.31385	N	0.678511	D	0.58970	0.984	B	0.28991	0.097	T	0.43956	-0.9359	9	0.66056	D	0.02	-2.6852	12.0857	0.53695	0.0:1.0:0.0:0.0	.	364	Q7Z3J3	RGPD4_HUMAN	C	364;364;122	ENSP00000347081:R364C;ENSP00000386810:R364C	ENSP00000347081:R364C	R	+	1	0	RGPD4	107839671	0.991000	0.36638	1.000000	0.80357	0.269000	0.26545	0.205000	0.17356	1.360000	0.45960	0.152000	0.16155	CGT	RGPD4	-	NULL	ENSG00000196862		0.343	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	RGPD4	HGNC	protein_coding	OTTHUMT00000330096.2	9	0.00	0	C	XM_496581		108473239	108473239	+1	no_errors	ENST00000354986	ensembl	human	known	69_37n	missense	4	42.86	3	SNP	1.000	T
RNF123	63891	genome.wustl.edu	37	3	49737699	49737699	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AQ-A54N-01A-11D-A25Q-09	TCGA-AQ-A54N-10A-01D-A25Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	292a1557-bc2e-449c-9d24-0ce01b5b2d65	2a07d013-012c-492a-90c2-0fcfe94b1c63	g.chr3:49737699delT	ENST00000327697.6	+	13	1168	c.1024delT	c.(1024-1026)ttgfs	p.L343fs	RNF123_ENST00000432042.1_Frame_Shift_Del_p.L197fs	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	343					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		CATGAGCTTCTTGCTGGGCAT	0.617																																						dbGAP											0													120.0	90.0	100.0					3																	49737699		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"""RING-type (C3HC4) zinc fingers"""	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891	ENST00000327697.6:c.1024delT	3.37:g.49737699delT	ENSP00000328287:p.Leu343fs		A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Frame_Shift_Del	DEL	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,smart_Znf_RING,pfscan_B30.2/SPRY,pfscan_Znf_RING	p.L342fs	ENST00000327697.6	37	c.1024	CCDS33758.1	3																																																																																			RNF123	-	NULL	ENSG00000164068		0.617	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF123	HGNC	protein_coding	OTTHUMT00000346475.2	109	0.00	0	T	NM_022064		49737699	49737699	+1	no_errors	ENST00000327697	ensembl	human	known	69_37n	frame_shift_del	8	81.25	39	DEL	1.000	-
LINC00969	440993	genome.wustl.edu	37	3	195411037	195411037	+	lincRNA	SNP	G	G	A	rs6583279	byFrequency	TCGA-AQ-A54N-01A-11D-A25Q-09	TCGA-AQ-A54N-10A-01D-A25Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	292a1557-bc2e-449c-9d24-0ce01b5b2d65	2a07d013-012c-492a-90c2-0fcfe94b1c63	g.chr3:195411037G>A	ENST00000445430.1	+	0	2234									long intergenic non-protein coding RNA 969																		GGGAGGAGATGATGATTGTGG	0.582																																						dbGAP											0																																										-	-	-			0			AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195411037G>A				RNA	SNP	-	NULL	ENST00000445430.1	37	NULL		3																																																																																			SDHAP2	-	-	ENSG00000215837		0.582	LINC00969-038	KNOWN	basic	lincRNA	SDHAP2	HGNC	lincRNA	OTTHUMT00000341951.1	9	0.00	0	G			195411037	195411037	+1	no_errors	ENST00000445430	ensembl	human	known	69_37n	rna	13	23.53	4	SNP	0.007	A
SERPINB11	89778	genome.wustl.edu	37	18	61383310	61383310	+	RNA	SNP	G	G	A	rs372098793		TCGA-AQ-A54N-01A-11D-A25Q-09	TCGA-AQ-A54N-10A-01D-A25Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	292a1557-bc2e-449c-9d24-0ce01b5b2d65	2a07d013-012c-492a-90c2-0fcfe94b1c63	g.chr18:61383310G>A	ENST00000382749.5	+	0	644				SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000544088.1_RNA|SERPINB11_ENST00000489748.1_RNA|SERPINB11_ENST00000536691.1_RNA			Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				AAGCCAGGTTGCAAACTGTGG	0.333																																					Ovarian(27;496 784 5942 8975 23930)	dbGAP											0													106.0	94.0	97.0					18																	61383310		1840	4100	5940	-	-	-			0					18q21.33	2014-02-18	2009-01-22		ENSG00000206072	ENSG00000206072		"""Serine (or cysteine) peptidase inhibitors"""	14221	protein-coding gene	gene with protein product		615682	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 11"", ""serpin peptidase inhibitor, clade B (ovalbumin), member 11"""			17562709, 24172014	Standard	XM_006722569		Approved	EPIPIN	uc002ljk.4	Q96P15	OTTHUMG00000060404		18.37:g.61383310G>A			A8K9R0|Q5Q120|Q5Q121|Q5Q122|Q5Q123|Q6ISD3|Q96P13|Q96P14	Silent	SNP	NULL	p.L133	ENST00000382749.5	37	c.399		18																																																																																			SERPINB11	-	NULL	ENSG00000206072		0.333	SERPINB11-002	KNOWN	basic	polymorphic_pseudogene	SERPINB11	HGNC	polymorphic_pseudogene	OTTHUMT00000207392.3	50	0.00	0	G	NM_080475		61383310	61383310	+1	pseudogene	ENST00000382749	ensembl	human	known	69_37n	silent	28	12.50	4	SNP	0.532	A
SERTAD2	9792	genome.wustl.edu	37	2	64863944	64863944	+	Missense_Mutation	SNP	A	A	G			TCGA-AQ-A54N-01A-11D-A25Q-09	TCGA-AQ-A54N-10A-01D-A25Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	292a1557-bc2e-449c-9d24-0ce01b5b2d65	2a07d013-012c-492a-90c2-0fcfe94b1c63	g.chr2:64863944A>G	ENST00000313349.3	-	2	359	c.62T>C	c.(61-63)aTc>aCc	p.I21T	SERTAD2_ENST00000476805.2_5'UTR	NM_014755.2	NP_055570.1	Q14140	SRTD2_HUMAN	SERTA domain containing 2	21					negative regulation of cell growth (GO:0030308)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|skin(1)	12						GGGAGACACGATTTTGCCTTC	0.468																																						dbGAP											0													151.0	136.0	141.0					2																	64863944		2203	4300	6503	-	-	-	SO:0001583	missense	0			D50917	CCDS33210.1	2p15	2007-05-01			ENSG00000179833	ENSG00000179833			30784	protein-coding gene	gene with protein product	"""transcriptional regulator interacting with the PHS-bromodomain 2"""					8590280, 11331592	Standard	NM_014755		Approved	TRIP-Br2, KIAA0127, Sei-2	uc002sde.2	Q14140	OTTHUMG00000152678	ENST00000313349.3:c.62T>C	2.37:g.64863944A>G	ENSP00000326933:p.Ile21Thr		Q53TS2	Missense_Mutation	SNP	pfam_SERTA,pfscan_SERTA	p.I21T	ENST00000313349.3	37	c.62	CCDS33210.1	2	.	.	.	.	.	.	.	.	.	.	A	9.491	1.100779	0.20552	.	.	ENSG00000179833	ENST00000313349	.	.	.	5.83	5.83	0.93111	.	0.446609	0.25692	N	0.028932	T	0.33147	0.0853	N	0.03608	-0.345	0.35909	D	0.830935	B	0.10296	0.003	B	0.09377	0.004	T	0.36601	-0.9741	9	0.56958	D	0.05	-7.0698	16.2127	0.82178	1.0:0.0:0.0:0.0	.	21	Q14140	SRTD2_HUMAN	T	21	.	ENSP00000326933:I21T	I	-	2	0	SERTAD2	64717448	1.000000	0.71417	0.985000	0.45067	0.965000	0.64279	4.683000	0.61679	2.236000	0.73375	0.533000	0.62120	ATC	SERTAD2	-	NULL	ENSG00000179833		0.468	SERTAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERTAD2	HGNC	protein_coding	OTTHUMT00000327322.2	48	0.00	0	A	NM_014755		64863944	64863944	-1	no_errors	ENST00000313349	ensembl	human	known	69_37n	missense	30	16.67	6	SNP	1.000	G
SGIP1	84251	genome.wustl.edu	37	1	67099831	67099831	+	Intron	SNP	G	G	C			TCGA-AQ-A54N-01A-11D-A25Q-09	TCGA-AQ-A54N-10A-01D-A25Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	292a1557-bc2e-449c-9d24-0ce01b5b2d65	2a07d013-012c-492a-90c2-0fcfe94b1c63	g.chr1:67099831G>C	ENST00000371037.4	+	3	176				SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000468286.1_Intron|SGIP1_ENST00000237247.6_Silent_p.S56S|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000371035.3_Intron	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1						endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						GAGCCCTCTCGTTAACTCTGT	0.507																																						dbGAP											0													28.0	25.0	26.0					1																	67099831		876	1991	2867	-	-	-	SO:0001627	intron_variant	0			AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.99+1054G>C	1.37:g.67099831G>C			A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Silent	SNP	pfam_Muniscin_C-term_mu_dom,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C	p.S56	ENST00000371037.4	37	c.168	CCDS30744.1	1																																																																																			SGIP1	-	NULL	ENSG00000118473		0.507	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SGIP1	HGNC	protein_coding	OTTHUMT00000025395.4	44	0.00	0	G	NM_032291		67099831	67099831	+1	no_errors	ENST00000237247	ensembl	human	known	69_37n	silent	32	17.95	7	SNP	0.999	C
SHMT2	6472	genome.wustl.edu	37	12	57628071	57628071	+	Missense_Mutation	SNP	G	G	T	rs536394351		TCGA-AQ-A54N-01A-11D-A25Q-09	TCGA-AQ-A54N-10A-01D-A25Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	292a1557-bc2e-449c-9d24-0ce01b5b2d65	2a07d013-012c-492a-90c2-0fcfe94b1c63	g.chr12:57628071G>T	ENST00000328923.3	+	12	1894	c.1442G>T	c.(1441-1443)cGt>cTt	p.R481L	SHMT2_ENST00000414700.3_Missense_Mutation_p.R460L|SHMT2_ENST00000449049.3_Missense_Mutation_p.R460L|SHMT2_ENST00000553474.1_Missense_Mutation_p.R460L|SHMT2_ENST00000393827.4_Missense_Mutation_p.R385L|SHMT2_ENST00000557487.1_Missense_Mutation_p.R471L	NM_001166356.1|NM_005412.5	NP_001159828.1|NP_005403.2	P34897	GLYM_HUMAN	serine hydroxymethyltransferase 2 (mitochondrial)	481					glycine biosynthetic process from serine (GO:0019264)|L-serine biosynthetic process (GO:0006564)|one-carbon metabolic process (GO:0006730)|positive regulation of cell proliferation (GO:0008284)|protein homotetramerization (GO:0051289)|tetrahydrofolate interconversion (GO:0035999)	extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|chromatin binding (GO:0003682)|glycine hydroxymethyltransferase activity (GO:0004372)|L-allo-threonine aldolase activity (GO:0008732)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15					Glycine(DB00145)|Tetrahydrofolic acid(DB00116)	ACAAGTCAGCGTCTGGCCAAC	0.537																																					Esophageal Squamous(150;1369 2416 49071 49364)	dbGAP											0													125.0	123.0	123.0					12																	57628071		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK223555	CCDS8934.1, CCDS53805.1, CCDS55837.1	12q12-q14	2006-03-27				ENSG00000182199	2.1.2.1		10852	protein-coding gene	gene with protein product		138450		SHMT		8999870	Standard	NM_005412		Approved		uc001snf.2	P34897		ENST00000328923.3:c.1442G>T	12.37:g.57628071G>T	ENSP00000333667:p.Arg481Leu		B7Z9F1|E7EQ19|E7EU43|O00740|Q8N1A5	Missense_Mutation	SNP	pfam_Ser_HO-MeTrfase,superfamily_PyrdxlP-dep_Trfase_major_dom,pirsf_Ser_HO-MeTrfase	p.R481L	ENST00000328923.3	37	c.1442	CCDS8934.1	12	.	.	.	.	.	.	.	.	.	.	G	16.09	3.025843	0.54683	.	.	ENSG00000182199	ENST00000328923;ENST00000557487;ENST00000414700;ENST00000553474;ENST00000449049;ENST00000393827	T;T;T;T;T;T	0.30981	1.64;1.53;1.64;1.64;1.64;1.51	5.16	-1.35	0.09114	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.238263	0.43416	D	0.000573	T	0.28267	0.0698	M	0.66939	2.045	0.51233	D	0.999912	B;B;B;B;B	0.23316	0.001;0.003;0.016;0.006;0.083	B;B;B;B;B	0.18561	0.003;0.004;0.003;0.006;0.022	T	0.15150	-1.0447	10	0.72032	D	0.01	-11.2167	10.5027	0.44815	0.575:0.0:0.425:0.0	.	490;471;385;412;481	B4DWA7;Q8N1A5;B4DLV4;B4DP88;P34897	.;.;.;.;GLYM_HUMAN	L	481;471;460;460;460;385	ENSP00000333667:R481L;ENSP00000452315:R471L;ENSP00000406881:R460L;ENSP00000452419:R460L;ENSP00000413770:R460L;ENSP00000377413:R385L	ENSP00000333667:R481L	R	+	2	0	SHMT2	55914338	0.012000	0.17670	0.788000	0.31933	0.986000	0.74619	0.473000	0.22132	-0.212000	0.10109	0.655000	0.94253	CGT	SHMT2	-	superfamily_PyrdxlP-dep_Trfase_major_dom,pirsf_Ser_HO-MeTrfase	ENSG00000182199		0.537	SHMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHMT2	HGNC	protein_coding	OTTHUMT00000412525.2	42	0.00	0	G	NM_005412		57628071	57628071	+1	no_errors	ENST00000328923	ensembl	human	known	69_37n	missense	6	77.78	21	SNP	0.918	T
SKIV2L2	23517	genome.wustl.edu	37	5	54637581	54637581	+	Missense_Mutation	SNP	C	C	T			TCGA-AQ-A54N-01A-11D-A25Q-09	TCGA-AQ-A54N-10A-01D-A25Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	292a1557-bc2e-449c-9d24-0ce01b5b2d65	2a07d013-012c-492a-90c2-0fcfe94b1c63	g.chr5:54637581C>T	ENST00000230640.5	+	7	1017	c.763C>T	c.(763-765)Cat>Tat	p.H255Y	SKIV2L2_ENST00000545714.1_Missense_Mutation_p.H154Y	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	255	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				maturation of 5.8S rRNA (GO:0000460)|mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				TGATGAAATTCATTATATGAG	0.284																																					Melanoma(2;92 134 23744 29976 33782)	dbGAP											0													90.0	95.0	94.0					5																	54637581		2202	4297	6499	-	-	-	SO:0001583	missense	0			D29641	CCDS3967.1	5q11.2	2008-11-25	2005-02-18	2005-02-18	ENSG00000039123	ENSG00000039123			18734	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 118"""		"""KIAA0052"""	KIAA0052			Standard	NM_015360		Approved	Mtr4, Dob1, fSAP118	uc003jpy.4	P42285	OTTHUMG00000097019	ENST00000230640.5:c.763C>T	5.37:g.54637581C>T	ENSP00000230640:p.His255Tyr		Q2M386|Q6MZZ8|Q6P170|Q8N5R0|Q8TAG2	Missense_Mutation	SNP	pfam_DSH_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pirsf_RNA_helicase_ATP-dep_SK12/DOB1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.H255Y	ENST00000230640.5	37	c.763	CCDS3967.1	5	.	.	.	.	.	.	.	.	.	.	C	26.6	4.757352	0.89843	.	.	ENSG00000039123	ENST00000230640;ENST00000545714	T;T	0.80393	-1.37;-1.37	5.58	5.58	0.84498	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.102446	0.64402	D	0.000002	D	0.95689	0.8598	H	0.99978	5.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.994;1.0	D	0.98169	1.0451	10	0.87932	D	0	-5.877	18.3487	0.90330	0.0:1.0:0.0:0.0	.	154;255	F5H7E2;P42285	.;SK2L2_HUMAN	Y	255;154	ENSP00000230640:H255Y;ENSP00000442583:H154Y	ENSP00000230640:H255Y	H	+	1	0	SKIV2L2	54673338	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.727000	0.84838	2.622000	0.88805	0.655000	0.94253	CAT	SKIV2L2	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pirsf_RNA_helicase_ATP-dep_SK12/DOB1,pfscan_Helicase_ATP-bd	ENSG00000039123		0.284	SKIV2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKIV2L2	HGNC	protein_coding	OTTHUMT00000214108.1	53	0.00	0	C			54637581	54637581	+1	no_errors	ENST00000230640	ensembl	human	known	69_37n	missense	35	10.26	4	SNP	1.000	T
SYNE4	163183	genome.wustl.edu	37	19	36498094	36498094	+	Missense_Mutation	SNP	C	C	T	rs543896789		TCGA-AQ-A54N-01A-11D-A25Q-09	TCGA-AQ-A54N-10A-01D-A25Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	292a1557-bc2e-449c-9d24-0ce01b5b2d65	2a07d013-012c-492a-90c2-0fcfe94b1c63	g.chr19:36498094C>T	ENST00000324444.3	-	3	467	c.356G>A	c.(355-357)cGg>cAg	p.R119Q	SYNE4_ENST00000340477.5_Intron|ALKBH6_ENST00000495116.2_5'Flank|AC002116.8_ENST00000473572.2_RNA	NM_001039876.1	NP_001034965.1	Q8N205	SYNE4_HUMAN	spectrin repeat containing, nuclear envelope family member 4	119					establishment of epithelial cell apical/basal polarity (GO:0045198)	integral component of nuclear outer membrane (GO:0031309)											GTCCTGCAGCCGGCGGCCCAG	0.667																																						dbGAP											0													11.0	14.0	13.0					19																	36498094		1984	4151	6135	-	-	-	SO:0001583	missense	0			BC038360	CCDS42553.1	19q13.12	2014-01-28	2012-05-31	2012-05-31	ENSG00000181392	ENSG00000181392			26703	protein-coding gene	gene with protein product		615535	"""chromosome 19 open reading frame 46"", ""deafness, autosomal recessive 76"""	C19orf46, DFNB76		23348741	Standard	XM_005258597		Approved	FLJ36445, Nesprin-4, Nesp4	uc002ocq.1	Q8N205	OTTHUMG00000048135	ENST00000324444.3:c.356G>A	19.37:g.36498094C>T	ENSP00000316130:p.Arg119Gln		A8MRS0|A8MYE3|Q7Z7L3	Missense_Mutation	SNP	pfam_KASH,pfscan_KASH	p.R119Q	ENST00000324444.3	37	c.356	CCDS42553.1	19	.	.	.	.	.	.	.	.	.	.	C	7.832	0.720148	0.15372	.	.	ENSG00000181392	ENST00000324444;ENST00000490730	T;T	0.50813	0.73;0.73	4.98	0.293	0.15742	.	0.378737	0.27932	N	0.017276	T	0.15305	0.0369	N	0.03608	-0.345	0.28358	N	0.920591	B;B	0.30236	0.274;0.034	B;B	0.21708	0.036;0.01	T	0.37709	-0.9694	10	0.02654	T	1	-34.9979	7.3071	0.26453	0.0:0.5782:0.0:0.4218	.	119;119	D6RAE3;Q8N205	.;SYNE4_HUMAN	Q	119	ENSP00000316130:R119Q;ENSP00000422716:R119Q	ENSP00000316130:R119Q	R	-	2	0	C19orf46	41189934	0.722000	0.28017	0.964000	0.40570	0.140000	0.21249	-0.366000	0.07563	0.045000	0.15804	-0.448000	0.05591	CGG	SYNE4	-	NULL	ENSG00000181392		0.667	SYNE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE4	HGNC	protein_coding	OTTHUMT00000109525.3	60	0.00	0	C	NM_001039876		36498094	36498094	-1	no_errors	ENST00000324444	ensembl	human	known	69_37n	missense	44	38.03	27	SNP	0.967	T
TAAR1	134864	genome.wustl.edu	37	6	132967074	132967074	+	Silent	SNP	A	A	G			TCGA-AQ-A54N-01A-11D-A25Q-09	TCGA-AQ-A54N-10A-01D-A25Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	292a1557-bc2e-449c-9d24-0ce01b5b2d65	2a07d013-012c-492a-90c2-0fcfe94b1c63	g.chr6:132967074A>G	ENST00000275216.1	-	1	68	c.69T>C	c.(67-69)cgT>cgC	p.R23R		NM_138327.1	NP_612200.1	Q96RJ0	TAAR1_HUMAN	trace amine associated receptor 1	23			R -> C (in dbSNP:rs8192618).		G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)	18	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154)	Amphetamine(DB00182)|Dextroamphetamine(DB01576)|Methamphetamine(DB01577)|Propylhexedrine(DB06714)	ACAGGGAAGCACGGACATCAT	0.388																																						dbGAP											0													188.0	184.0	186.0					6																	132967074		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY180374	CCDS5158.1	6q23.1	2012-08-08	2005-02-23	2005-02-24	ENSG00000146399	ENSG00000146399		"""GPCR / Class A : Trace amine associated receptors"""	17734	protein-coding gene	gene with protein product		609333	"""trace amine receptor 1"""	TRAR1		11459929, 15718104	Standard	NM_138327		Approved	TAR1, TA1	uc003qdm.1	Q96RJ0	OTTHUMG00000015583	ENST00000275216.1:c.69T>C	6.37:g.132967074A>G			Q2M1W5|Q3MIH8|Q5VUQ1	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Trac_amin_rcpt_1,prints_Trace_amine_rcpt	p.R23	ENST00000275216.1	37	c.69	CCDS5158.1	6																																																																																			TAAR1	-	prints_Trac_amin_rcpt_1	ENSG00000146399		0.388	TAAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAAR1	HGNC	protein_coding	OTTHUMT00000042259.1	67	0.00	0	A	NM_138327		132967074	132967074	-1	no_errors	ENST00000275216	ensembl	human	known	69_37n	silent	8	78.38	29	SNP	0.000	G
TIAM2	26230	genome.wustl.edu	37	6	155451207	155451207	+	Missense_Mutation	SNP	G	G	A			TCGA-AQ-A54N-01A-11D-A25Q-09	TCGA-AQ-A54N-10A-01D-A25Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	292a1557-bc2e-449c-9d24-0ce01b5b2d65	2a07d013-012c-492a-90c2-0fcfe94b1c63	g.chr6:155451207G>A	ENST00000461783.3	+	6	2123	c.850G>A	c.(850-852)Ggc>Agc	p.G284S	TIAM2_ENST00000360366.4_Missense_Mutation_p.G284S|TIAM2_ENST00000318981.5_Missense_Mutation_p.G284S|TIAM2_ENST00000456144.1_Missense_Mutation_p.G284S|TIAM2_ENST00000529824.2_Missense_Mutation_p.G284S|TIAM2_ENST00000367174.2_5'UTR			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	284					apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CTTCCCACCTGGCGATGCCAA	0.622																																						dbGAP											0													58.0	55.0	56.0					6																	155451207		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.850G>A	6.37:g.155451207G>A	ENSP00000437188:p.Gly284Ser		B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,superfamily_HR1_rho-bd,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain	p.G284S	ENST00000461783.3	37	c.850	CCDS34558.1	6	.	.	.	.	.	.	.	.	.	.	G	0.040	-1.288943	0.01387	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000360366;ENST00000529824	T;T;T;T;T;T	0.04317	3.76;3.65;3.7;3.76;3.75;3.7	5.23	-1.71	0.08133	.	0.996701	0.08137	N	0.992141	T	0.00412	0.0013	N	0.00926	-1.1	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.46105	-0.9215	10	0.09084	T	0.74	.	6.2774	0.20989	0.6572:0.0:0.1982:0.1446	.	284	Q8IVF5	TIAM2_HUMAN	S	284;530;284;284;284;284;284	ENSP00000437188:G284S;ENSP00000434901:G284S;ENSP00000407746:G284S;ENSP00000327315:G284S;ENSP00000353528:G284S;ENSP00000433348:G284S	ENSP00000327315:G284S	G	+	1	0	TIAM2	155492899	0.000000	0.05858	0.000000	0.03702	0.200000	0.23975	0.342000	0.19926	-0.299000	0.08909	0.655000	0.94253	GGC	TIAM2	-	NULL	ENSG00000146426		0.622	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	TIAM2	HGNC	protein_coding	OTTHUMT00000387980.2	67	0.00	0	G	NM_012454		155451207	155451207	+1	no_errors	ENST00000456144	ensembl	human	known	69_37n	missense	35	10.26	4	SNP	0.000	A
TKTL2	84076	genome.wustl.edu	37	4	164394064	164394064	+	Missense_Mutation	SNP	C	C	T			TCGA-AQ-A54N-01A-11D-A25Q-09	TCGA-AQ-A54N-10A-01D-A25Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	292a1557-bc2e-449c-9d24-0ce01b5b2d65	2a07d013-012c-492a-90c2-0fcfe94b1c63	g.chr4:164394064C>T	ENST00000280605.3	-	1	983	c.823G>A	c.(823-825)Gtc>Atc	p.V275I		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	275						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)			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)				ATTAATTTGACAATTGCATCT	0.393																																						dbGAP											0													150.0	154.0	152.0					4																	164394064		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.823G>A	4.37:g.164394064C>T	ENSP00000280605:p.Val275Ile		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.V275I	ENST00000280605.3	37	c.823	CCDS3805.1	4	.	.	.	.	.	.	.	.	.	.	C	0	-2.783849	0.00079	.	.	ENSG00000151005	ENST00000280605	T	0.21543	2.0	4.3	-2.9	0.05648	.	0.372393	0.24403	N	0.038840	T	0.02848	0.0085	N	0.00237	-1.79	0.09310	N	1	B	0.02656	0.0	B	0.11329	0.006	T	0.39482	-0.9612	10	0.02654	T	1	-6.3907	5.5958	0.17327	0.0:0.3771:0.1492:0.4737	.	275	Q9H0I9	TKTL2_HUMAN	I	275	ENSP00000280605:V275I	ENSP00000280605:V275I	V	-	1	0	TKTL2	164613514	0.420000	0.25457	0.003000	0.11579	0.089000	0.18198	-0.062000	0.11674	-0.416000	0.07473	-0.290000	0.09829	GTC	TKTL2	-	NULL	ENSG00000151005		0.393	TKTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TKTL2	HGNC	protein_coding	OTTHUMT00000365207.1	27	0.00	0	C	NM_032136		164394064	164394064	-1	no_errors	ENST00000280605	ensembl	human	known	69_37n	missense	26	13.33	4	SNP	0.004	T
TNRC18	84629	genome.wustl.edu	37	7	5364777	5364777	+	Missense_Mutation	SNP	C	C	T	rs561713828	byFrequency	TCGA-AQ-A54N-01A-11D-A25Q-09	TCGA-AQ-A54N-10A-01D-A25Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	292a1557-bc2e-449c-9d24-0ce01b5b2d65	2a07d013-012c-492a-90c2-0fcfe94b1c63	g.chr7:5364777C>T	ENST00000430969.1	-	20	6598	c.6250G>A	c.(6250-6252)Gct>Act	p.A2084T	TNRC18_ENST00000399537.4_Missense_Mutation_p.A2084T	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2084							chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CTTTTGGCAGCGGTCAGGGAG	0.662													C|||	26	0.00519169	0.0	0.0	5008	,	,		16432	0.0		0.001	False		,,,				2504	0.0256					dbGAP											0													20.0	20.0	20.0					7																	5364777		1511	3457	4968	-	-	-	SO:0001583	missense	0			U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.6250G>A	7.37:g.5364777C>T	ENSP00000395538:p.Ala2084Thr		A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP	pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom	p.A2084T	ENST00000430969.1	37	c.6250	CCDS47534.1	7	.	.	.	.	.	.	.	.	.	.	.	0.089	-1.170793	0.01660	.	.	ENSG00000182095	ENST00000399537;ENST00000430969	T;T	0.11495	2.77;2.77	3.53	-7.06	0.01568	.	.	.	.	.	T	0.02455	0.0075	N	0.02011	-0.69	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.42849	-0.9427	9	0.07030	T	0.85	.	5.7204	0.17985	0.5169:0.1292:0.0:0.3539	.	2084	O15417	TNC18_HUMAN	T	2084	ENSP00000382452:A2084T;ENSP00000395538:A2084T	ENSP00000382452:A2084T	A	-	1	0	TNRC18	5331303	0.000000	0.05858	0.003000	0.11579	0.548000	0.35241	-1.461000	0.02366	-1.295000	0.02357	0.290000	0.19541	GCT	TNRC18	-	NULL	ENSG00000182095		0.662	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNRC18	HGNC	protein_coding		85	0.00	0	C			5364777	5364777	-1	no_errors	ENST00000399537	ensembl	human	known	69_37n	missense	26	43.48	20	SNP	0.021	T
TP53	7157	genome.wustl.edu	37	17	7577022	7577022	+	Nonsense_Mutation	SNP	G	G	A	rs121913344		TCGA-AQ-A54N-01A-11D-A25Q-09	TCGA-AQ-A54N-10A-01D-A25Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	292a1557-bc2e-449c-9d24-0ce01b5b2d65	2a07d013-012c-492a-90c2-0fcfe94b1c63	g.chr17:7577022G>A	ENST00000269305.4	-	8	1105	c.916C>T	c.(916-918)Cga>Tga	p.R306*	TP53_ENST00000445888.2_Nonsense_Mutation_p.R306*|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Nonsense_Mutation_p.R306*|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Nonsense_Mutation_p.R306*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R306*	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	306	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.		R -> P (in LFS; germline mutation and in a sporadic cancer; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R306*(133)|p.0?(8)|p.?(3)|p.R306fs*39(2)|p.K305fs*1(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TGCTTACCTCGCTTAGTGCTC	0.562	R306*(HCC1937_BREAST)|R306*(JURLMK1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(MFE296_ENDOMETRIUM)|R306*(MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(RCM1_LARGE_INTESTINE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	147	Substitution - Nonsense(133)|Whole gene deletion(8)|Unknown(3)|Deletion - Frameshift(2)|Insertion - Frameshift(1)	large_intestine(39)|breast(21)|upper_aerodigestive_tract(15)|ovary(11)|central_nervous_system(10)|oesophagus(10)|stomach(8)|lung(8)|endometrium(6)|bone(4)|pancreas(3)|haematopoietic_and_lymphoid_tissue(3)|biliary_tract(3)|kidney(2)|NS(2)|urinary_tract(1)|liver(1)	GRCh37	CM971506	TP53	M	rs121913344						120.0	106.0	110.0					17																	7577022		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.916C>T	17.37:g.7577022G>A	ENSP00000269305:p.Arg306*		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R306*	ENST00000269305.4	37	c.916	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	26.9	4.782988	0.90282	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	5.26	3.21	0.36854	.	1.348720	0.05032	N	0.474808	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.4785	0.44678	0.0:0.0:0.6334:0.3666	.	.	.	.	X	306;306;306;306;306;295;174	.	ENSP00000269305:R306X	R	-	1	2	TP53	7517747	1.000000	0.71417	0.970000	0.41538	0.345000	0.29048	2.280000	0.43443	0.735000	0.32537	0.561000	0.74099	CGA	TP53	-	NULL	ENSG00000141510		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	85	0.00	0	G	NM_000546		7577022	7577022	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	nonsense	15	84.54	82	SNP	1.000	A
AC005013.5	0	genome.wustl.edu	37	7	28995298	28995298	+	lincRNA	SNP	C	C	G			TCGA-AQ-A54N-01A-11D-A25Q-09	TCGA-AQ-A54N-10A-01D-A25Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	292a1557-bc2e-449c-9d24-0ce01b5b2d65	2a07d013-012c-492a-90c2-0fcfe94b1c63	g.chr7:28995298C>G	ENST00000436594.1	+	0	0				TRIL_ENST00000322982.3_RNA																							cccgcACTGTCCATGAAGCGG	0.657																																						dbGAP											0													7.0	9.0	9.0					7																	28995298		1436	2995	4431	-	-	-			0																															7.37:g.28995298C>G				RNA	SNP	-	NULL	ENST00000436594.1	37	NULL		7																																																																																			TRIL	-	-	ENSG00000176734		0.657	AC005013.5-001	KNOWN	basic|exp_conf	lincRNA	TRIL	HGNC	lincRNA	OTTHUMT00000327953.3	55	0.00	0	C			28995298	28995298	-1	no_errors	ENST00000322982	ensembl	human	known	69_37n	rna	18	50.00	18	SNP	1.000	G
CFAP46	54777	genome.wustl.edu	37	10	134673963	134673963	+	Missense_Mutation	SNP	C	C	T			TCGA-AQ-A54N-01A-11D-A25Q-09	TCGA-AQ-A54N-10A-01D-A25Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	292a1557-bc2e-449c-9d24-0ce01b5b2d65	2a07d013-012c-492a-90c2-0fcfe94b1c63	g.chr10:134673963C>T	ENST00000368586.5	-	37	5256	c.5156G>A	c.(5155-5157)cGa>cAa	p.R1719Q	TTC40_ENST00000263170.5_5'Flank	NM_001200049.2	NP_001186978.2														breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						TAAAGGCAATCGGTTTGGTCT	0.443																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0																														ENST00000368586.5:c.5156G>A	10.37:g.134673963C>T	ENSP00000357575:p.Arg1719Gln			Missense_Mutation	SNP	NULL	p.R1719Q	ENST00000368586.5	37	c.5156	CCDS58101.1	10	.	.	.	.	.	.	.	.	.	.	c	11.64	1.698122	0.30142	.	.	ENSG00000171811	ENST00000368586	T	0.14022	2.54	4.33	2.44	0.29823	.	.	.	.	.	T	0.08358	0.0208	N	0.19112	0.55	0.09310	N	0.999997	.	.	.	.	.	.	T	0.42085	-0.9472	7	0.15066	T	0.55	.	7.2818	0.26316	0.0:0.7869:0.0:0.2131	.	.	.	.	Q	1719	ENSP00000357575:R1719Q	ENSP00000357575:R1719Q	R	-	2	0	C10orf93	134523953	0.791000	0.28800	0.032000	0.17829	0.005000	0.04900	1.179000	0.31993	0.400000	0.25396	0.586000	0.80456	CGA	TTC40	-	NULL	ENSG00000171811		0.443	TTC40-001	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TTC40	HGNC	protein_coding	OTTHUMT00000051095.3	54	0.00	0	C			134673963	134673963	-1	no_errors	ENST00000368586	ensembl	human	novel	69_37n	missense	42	38.24	26	SNP	0.116	T
UBQLN2	29978	genome.wustl.edu	37	X	56590878	56590878	+	Missense_Mutation	SNP	T	T	G			TCGA-AQ-A54N-01A-11D-A25Q-09	TCGA-AQ-A54N-10A-01D-A25Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	292a1557-bc2e-449c-9d24-0ce01b5b2d65	2a07d013-012c-492a-90c2-0fcfe94b1c63	g.chrX:56590878T>G	ENST00000338222.5	+	1	853	c.572T>G	c.(571-573)gTt>gGt	p.V191G		NM_013444.3	NP_038472.2	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	191					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)	21						AATCCCTTTGTTCAGAGCATG	0.483																																					Esophageal Squamous(104;218 1492 6022 10838 28884)	dbGAP											0													84.0	81.0	82.0					X																	56590878		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF189009	CCDS14374.1	Xp11.21	2014-09-17			ENSG00000188021	ENSG00000188021		"""Ubiquilin family"""	12509	protein-coding gene	gene with protein product	"""NEDD4 binding protein 4"""	300264				10675567	Standard	NM_013444		Approved	Chap1, Dsk2, RIHFB2157, LIC-2, CHAP1/DSK2, PLIC-2, N4BP4, PLIC2	uc004dus.3	Q9UHD9	OTTHUMG00000021669	ENST00000338222.5:c.572T>G	X.37:g.56590878T>G	ENSP00000345195:p.Val191Gly		O94798|Q5D027|Q9H3W6|Q9HAZ4	Missense_Mutation	SNP	pfam_Ubiquitin,pfam_SUMO,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,superfamily_ARM-type_fold,superfamily_XPC-bd,smart_Ubiquitin,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup	p.V191G	ENST00000338222.5	37	c.572	CCDS14374.1	X	.	.	.	.	.	.	.	.	.	.	T	15.40	2.821126	0.50633	.	.	ENSG00000188021	ENST00000338222;ENST00000535171	T	0.80994	-1.44	4.52	4.52	0.55395	Heat shock chaperonin-binding (1);	0.100874	0.42294	D	0.000732	D	0.90280	0.6960	M	0.92555	3.32	0.80722	D	1	D;D	0.64830	0.983;0.994	P;D	0.64144	0.771;0.922	D	0.91938	0.5560	10	0.87932	D	0	-7.8417	11.0438	0.47846	0.0:0.0:0.0:1.0	.	191;191	B4DZF1;Q9UHD9	.;UBQL2_HUMAN	G	191	ENSP00000345195:V191G	ENSP00000345195:V191G	V	+	2	0	UBQLN2	56607603	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	7.819000	0.86621	1.807000	0.52817	0.486000	0.48141	GTT	UBQLN2	-	smart_STI1_HS-bd	ENSG00000188021		0.483	UBQLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBQLN2	HGNC	protein_coding	OTTHUMT00000056891.1	27	0.00	0	T	NM_013444		56590878	56590878	+1	no_errors	ENST00000338222	ensembl	human	known	69_37n	missense	32	25.58	11	SNP	1.000	G
USH2A	7399	genome.wustl.edu	37	1	215953193	215953193	+	Missense_Mutation	SNP	G	G	C	rs185823130	byFrequency	TCGA-AQ-A54N-01A-11D-A25Q-09	TCGA-AQ-A54N-10A-01D-A25Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	292a1557-bc2e-449c-9d24-0ce01b5b2d65	2a07d013-012c-492a-90c2-0fcfe94b1c63	g.chr1:215953193G>C	ENST00000307340.3	-	55	11317	c.10931C>G	c.(10930-10932)aCg>aGg	p.T3644R	USH2A_ENST00000366943.2_Missense_Mutation_p.T3644R	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3644	Fibronectin type-III 21. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACCTGTGACCGTATGCTGTCT	0.473										HNSCC(13;0.011)																												dbGAP											0													150.0	126.0	134.0					1																	215953193		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.10931C>G	1.37:g.215953193G>C	ENSP00000305941:p.Thr3644Arg		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.T3644R	ENST00000307340.3	37	c.10931	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	G	16.24	3.068269	0.55539	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.61158	0.13;0.13	5.9	4.98	0.66077	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.46442	D	0.000296	T	0.71298	0.3323	M	0.66560	2.04	0.42409	D	0.992594	D	0.71674	0.998	D	0.70016	0.967	T	0.67162	-0.5740	10	0.27082	T	0.32	.	14.4791	0.67567	0.07:0.0:0.93:0.0	.	3644	O75445	USH2A_HUMAN	R	3644	ENSP00000305941:T3644R;ENSP00000355910:T3644R	ENSP00000305941:T3644R	T	-	2	0	USH2A	214019816	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.104000	0.50306	2.790000	0.95986	0.650000	0.86243	ACG	USH2A	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000042781		0.473	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	38	0.00	0	G	NM_007123		215953193	215953193	-1	no_errors	ENST00000366943	ensembl	human	known	69_37n	missense	33	38.89	21	SNP	1.000	C
WNK2	65268	genome.wustl.edu	37	9	96030076	96030076	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AQ-A54N-01A-11D-A25Q-09	TCGA-AQ-A54N-10A-01D-A25Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	292a1557-bc2e-449c-9d24-0ce01b5b2d65	2a07d013-012c-492a-90c2-0fcfe94b1c63	g.chr9:96030076C>T	ENST00000297954.4	+	16	3745	c.3745C>T	c.(3745-3747)Cag>Tag	p.Q1249*	WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000427277.2_Nonsense_Mutation_p.Q861*|WNK2_ENST00000349097.3_Nonsense_Mutation_p.Q861*|WNK2_ENST00000395477.2_Nonsense_Mutation_p.Q1249*	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1249					intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						GTTCATCGAGCAGATGAAGGA	0.607																																						dbGAP											0													53.0	42.0	46.0					9																	96030076		2202	4300	6502	-	-	-	SO:0001587	stop_gained	0			AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"""serologically defined colon cancer antigen 43"""	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.3745C>T	9.37:g.96030076C>T	ENSP00000297954:p.Gln1249*		Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Nonsense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.Q1249*	ENST00000297954.4	37	c.3745		9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	42|42	9.679270|9.679270	0.99237|0.99237	.|.	.|.	ENSG00000165238|ENSG00000165238	ENST00000411624|ENST00000297954;ENST00000395477;ENST00000349097;ENST00000427277	.|.	.|.	.|.	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.78317|.	0.4264|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.78224|.	-0.2287|.	4|.	.|0.54805	.|T	.|0.06	.|.	20.0149|20.0149	0.97475|0.97475	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	V|X	852|1249;1249;861;861	.|.	.|ENSP00000297954:Q1249X	A|Q	+|+	2|1	0|0	WNK2|WNK2	95069897|95069897	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.956000|0.956000	0.61745|0.61745	5.866000|5.866000	0.69590|0.69590	2.793000|2.793000	0.96121|0.96121	0.650000|0.650000	0.86243|0.86243	GCA|CAG	WNK2	-	NULL	ENSG00000165238		0.607	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	WNK2	HGNC	protein_coding	OTTHUMT00000317359.1	74	0.00	0	C	NM_006648		96030076	96030076	+1	no_errors	ENST00000297954	ensembl	human	known	69_37n	nonsense	21	16.00	4	SNP	1.000	T
XIRP2	129446	genome.wustl.edu	37	2	168115459	168115459	+	Silent	SNP	C	C	T			TCGA-AQ-A54N-01A-11D-A25Q-09	TCGA-AQ-A54N-10A-01D-A25Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	292a1557-bc2e-449c-9d24-0ce01b5b2d65	2a07d013-012c-492a-90c2-0fcfe94b1c63	g.chr2:168115459C>T	ENST00000409728.1	+	11	2591	c.2502C>T	c.(2500-2502)ctC>ctT	p.L834L	XIRP2_ENST00000420519.1_Silent_p.L834L|XIRP2_ENST00000409043.1_Silent_p.L801L|XIRP2_ENST00000409605.1_Silent_p.L579L|XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000409756.2_Silent_p.L801L|XIRP2_ENST00000295237.9_3'UTR	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AACCAAGCCTCAGCAGAGGCC	0.438																																						dbGAP											0													29.0	28.0	28.0					2																	168115459		1845	4098	5943	-	-	-	SO:0001819	synonymous_variant	0			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409728.1:c.2502C>T	2.37:g.168115459C>T			A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.L834	ENST00000409728.1	37	c.2502	CCDS56143.1	2																																																																																			XIRP2	-	NULL	ENSG00000163092		0.438	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333552.1	20	0.00	0	C	NM_152381		168115459	168115459	+1	no_errors	ENST00000420519	ensembl	human	known	69_37n	silent	27	22.86	8	SNP	0.000	T
ZNF285	26974	genome.wustl.edu	37	19	44896528	44896528	+	Missense_Mutation	SNP	T	T	A			TCGA-AQ-A54N-01A-11D-A25Q-09	TCGA-AQ-A54N-10A-01D-A25Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	292a1557-bc2e-449c-9d24-0ce01b5b2d65	2a07d013-012c-492a-90c2-0fcfe94b1c63	g.chr19:44896528T>A	ENST00000330997.4	-	3	182	c.118A>T	c.(118-120)Aac>Tac	p.N40Y	ZNF285_ENST00000591679.1_Missense_Mutation_p.N47Y|CTC-512J12.4_ENST00000588655.1_RNA|CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000544719.2_Missense_Mutation_p.N40Y	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	40	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						TTCCTGAAGTTTTCCAGCATC	0.428																																						dbGAP											0													178.0	156.0	163.0					19																	44896528		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK055309	CCDS12638.1, CCDS74389.1	19q13.32	2013-01-08	2010-04-14	2010-04-14		ENSG00000267508		"""Zinc fingers, C2H2-type"", ""-"""	13079	protein-coding gene	gene with protein product			"""zinc finger protein 285A"""	ZNF285A			Standard	XM_005258734		Approved			Q96NJ3	OTTHUMG00000178848	ENST00000330997.4:c.118A>T	19.37:g.44896528T>A	ENSP00000333595:p.Asn40Tyr		Q17RJ3|Q6B0A8|Q6ISR5	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.N40Y	ENST00000330997.4	37	c.118	CCDS12638.1	19	.	.	.	.	.	.	.	.	.	.	T	16.06	3.016841	0.54576	.	.	ENSG00000062370	ENST00000544719;ENST00000330997	T	0.03745	3.82	2.96	2.96	0.34315	Krueppel-associated box (4);	.	.	.	.	T	0.29817	0.0745	H	0.99249	4.485	0.26366	N	0.976964	D;D	0.76494	0.999;0.998	D;D	0.67231	0.95;0.95	T	0.35051	-0.9804	9	0.87932	D	0	.	9.3943	0.38392	0.0:0.0:0.0:1.0	.	64;40	B7ZLR9;Q96NJ3	.;ZN285_HUMAN	Y	63;40	ENSP00000333595:N40Y	ENSP00000333595:N40Y	N	-	1	0	ZNF285	49588368	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	2.711000	0.47177	1.379000	0.46325	0.369000	0.22263	AAC	ZNF285	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000267508		0.428	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF285	HGNC	protein_coding	OTTHUMT00000443600.1	148	0.00	0	T	NM_152354		44896528	44896528	-1	no_errors	ENST00000330997	ensembl	human	known	69_37n	missense	89	47.34	80	SNP	1.000	A
ZNF705G	100131980	genome.wustl.edu	37	8	7218752	7218752	+	Missense_Mutation	SNP	G	G	C	rs3989697	byFrequency	TCGA-AQ-A54N-01A-11D-A25Q-09	TCGA-AQ-A54N-10A-01D-A25Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	292a1557-bc2e-449c-9d24-0ce01b5b2d65	2a07d013-012c-492a-90c2-0fcfe94b1c63	g.chr8:7218752G>C	ENST00000400156.4	-	4	300	c.19C>G	c.(19-21)Ctg>Gtg	p.L7V	ZNF705G_ENST00000400078.2_Missense_Mutation_p.L7V			A8MUZ8	Z705G_HUMAN	zinc finger protein 705G	7	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			lung(9)	9						TCAAAAGTCAGTTTCTTCTAA	0.418																																						dbGAP											0													77.0	114.0	103.0					8																	7218752		670	1591	2261	-	-	-	SO:0001583	missense	0				CCDS47773.1	8p23.1	2013-01-08			ENSG00000215372	ENSG00000215372		"""Zinc fingers, C2H2-type"", ""-"""	37134	protein-coding gene	gene with protein product							Standard	NM_001164457		Approved		uc022are.1	A8MUZ8	OTTHUMG00000165384	ENST00000400156.4:c.19C>G	8.37:g.7218752G>C	ENSP00000383020:p.Leu7Val			Missense_Mutation	SNP	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L7V	ENST00000400156.4	37	c.19		8	596	0.27289377289377287	179	0.3638211382113821	115	0.31767955801104975	119	0.20804195804195805	183	0.24142480211081793	C	0.001	-3.595236	0.00008	.	.	ENSG00000215372	ENST00000400156;ENST00000400078	T;T	0.00682	5.86;5.86	1.24	1.24	0.21308	.	.	.	.	.	T	0.00012	0.0000	N	0.00389	-1.56	0.80722	P	0.0	.	.	.	.	.	.	T	0.35624	-0.9781	6	0.02654	T	1	.	2.8338	0.05508	0.0:0.4936:0.3045:0.2019	rs3989697;rs60933631	.	.	.	V	7	ENSP00000383020:L7V;ENSP00000445477:L7V	ENSP00000445477:L7V	L	-	1	2	ZNF705G	7206162	0.049000	0.20398	0.114000	0.21550	0.005000	0.04900	0.023000	0.13533	0.119000	0.18210	-2.074000	0.00383	CTG	ZNF705G	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000215372		0.418	ZNF705G-001	KNOWN	basic|appris_principal	protein_coding	ZNF705G	HGNC	protein_coding	OTTHUMT00000383776.1	113	0.00	0	G	XM_001720517		7218752	7218752	-1	no_errors	ENST00000400078	ensembl	human	known	69_37n	missense	147	10.91	18	SNP	0.747	C
ZNF733P	643955	genome.wustl.edu	37	7	62751948	62751948	+	RNA	SNP	T	T	A			TCGA-AQ-A54N-01A-11D-A25Q-09	TCGA-AQ-A54N-10A-01D-A25Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	292a1557-bc2e-449c-9d24-0ce01b5b2d65	2a07d013-012c-492a-90c2-0fcfe94b1c63	g.chr7:62751948T>A	ENST00000331425.6	-	0	1487					NR_003952.1				zinc finger protein 733, pseudogene																		TAGCAAGACTTGAATGCCACT	0.368																																						dbGAP											0																																										-	-	-			0					7q11.21	2012-04-20	2012-04-20	2012-04-20	ENSG00000185037	ENSG00000185037			32473	pseudogene	pseudogene			"""zinc finger protein 733"""	ZNF733			Standard	NR_003952		Approved		uc011kdj.2		OTTHUMG00000156270		7.37:g.62751948T>A				RNA	SNP	-	NULL	ENST00000331425.6	37	NULL		7																																																																																			ZNF733P	-	-	ENSG00000185037		0.368	ZNF733P-002	KNOWN	basic	processed_transcript	ZNF733P	HGNC	pseudogene	OTTHUMT00000343679.1	76	0.00	0	T			62751948	62751948	-1	no_errors	ENST00000331425	ensembl	human	known	69_37n	rna	58	21.62	16	SNP	0.001	A
