#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_ ensembl_gene_id	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GMAF	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_dbSNP	i_default_gene_name	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_name_source	i_gene_type	i_havana_transcript	i_n_alt_count	i_n_alt_count_full	i_n_alt_count_val	i_n_ref_count	i_n_ref_count_full	i_n_ref_count_val	i_normal_vaf	i_normal_vaf_val	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_t_alt_count_full	i_t_alt_count_val	i_t_ref_count_full	i_t_ref_count_val	i_tier	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_tumor_vaf	i_tumor_vaf_val	i_type	i_ucsc_cons	i_variant	t_alt_count	t_ref_count
USP13	8975	genome.wustl.edu	37	3	179499580	179499580	+	Missense_Mutation	SNP	C	C	T			TCGA-IW-A3M4-01A-11D-A21Q-09	TCGA-IW-A3M4-10B-01D-A21Q-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6aa00162-6294-4ce7-b6b7-0c3452e24cd6	8475f0ef-158e-493e-82b5-44e895dfc0a7	g.chr3:179499580C>T	ENST00000263966.3	+	20	2938	c.2467C>T	c.(2467-2469)Cat>Tat	p.H823Y	USP13_ENST00000496897.1_Missense_Mutation_p.H758Y	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	823	USP.				autophagy (GO:0006914)|cell proliferation (GO:0008283)|melanocyte differentiation (GO:0030318)|protein K63-linked deubiquitination (GO:0070536)|protein stabilization (GO:0050821)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			AATGAGTGGTCATTACATTTG	0.393													ENSG00000058056																																					0													151.0	134.0	140.0					3																	179499580		2203	4300	6503	SO:0001583	missense	0			-	U75362	CCDS3235.1	3q26.2-q26.3	2008-04-11	2005-08-08		ENSG00000058056	ENSG00000058056		"""Ubiquitin-specific peptidases"""	12611	protein-coding gene	gene with protein product		603591	"""ubiquitin specific protease 13 (isopeptidase T-3)"""			12838346	Standard	NM_003940		Approved	IsoT-3	uc003fkh.3	Q92995	OTTHUMG00000157783	ENST00000263966.3:c.2467C>T	3.37:g.179499580C>T	ENSP00000263966:p.His823Tyr		A8K2S3|B4DYF3|D3DNS2|Q96B25	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfam_UBA/Ts_N,pfam_Znf_UBP,superfamily_UBA-like,smart_Znf_UBP,smart_UBA/transl_elong_EF1B_N_euk,pirsf_Ubiquitinyl_hydrolase,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67	p.H823Y	ENST00000263966.3	37	c.2467	CCDS3235.1	3	.	.	.	.	.	.	.	.	.	.	C	25.0	4.588677	0.86851	.	.	ENSG00000058056	ENST00000263966;ENST00000496897	D;D	0.91577	-2.87;-2.87	4.92	4.92	0.64577	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2, conserved site (1);Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	D	0.96904	0.8989	H	0.95816	3.725	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98290	1.0513	10	0.87932	D	0	-16.9424	18.135	0.89616	0.0:1.0:0.0:0.0	.	823	Q92995	UBP13_HUMAN	Y	823;758	ENSP00000263966:H823Y;ENSP00000417146:H758Y	ENSP00000263966:H823Y	H	+	1	0	USP13	180982274	1.000000	0.71417	0.998000	0.56505	0.902000	0.53008	7.431000	0.80335	2.273000	0.75805	0.561000	0.74099	CAT	-	USP13	-	pfam_Peptidase_C19/C67,pirsf_Ubiquitinyl_hydrolase,pfscan_Peptidase_C19/C67		0.393	USP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP13	HGNC	protein_coding	OTTHUMT00000349617.1	0	0	0	61	61	119	0.00	0.00	C			179499580	+1	26	52	43	88	tier1	no_errors	ENST00000263966	ensembl	human	known	74_37	missense	37.68	37.14	SNP	1.000	T	26	43
PATZ1	23598	genome.wustl.edu	37	22	31740715	31740715	+	Missense_Mutation	SNP	G	G	T			TCGA-IW-A3M4-01A-11D-A21Q-09	TCGA-IW-A3M4-10B-01D-A21Q-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6aa00162-6294-4ce7-b6b7-0c3452e24cd6	8475f0ef-158e-493e-82b5-44e895dfc0a7	g.chr22:31740715G>T	ENST00000266269.5	-	1	1503	c.874C>A	c.(874-876)Ctt>Att	p.L292I	PATZ1_ENST00000215919.3_Missense_Mutation_p.L292I|AC005003.1_ENST00000504184.2_5'Flank|PATZ1_ENST00000405309.3_Missense_Mutation_p.L292I|PATZ1_ENST00000351933.4_Missense_Mutation_p.L292I	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	292					male gonad development (GO:0008584)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)		EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						CCGCATGGAAGGATGCCTGCC	0.652													ENSG00000100105																																					0													41.0	32.0	35.0					22																	31740715		2203	4300	6503	SO:0001583	missense	0			-	AL096880	CCDS13894.1, CCDS13895.1, CCDS13896.1, CCDS46691.1	22q12.2	2013-01-09	2006-09-19	2006-09-19	ENSG00000100105	ENSG00000100105		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13071	protein-coding gene	gene with protein product		605165	"""zinc finger protein 278"""	ZNF278		10591208, 18241078, 18401526	Standard	NM_014323		Approved	MAZR, dJ400N23, ZBTB19, ZSG, RIAZ, PATZ	uc003akq.3	Q9HBE1	OTTHUMG00000151254	ENST00000266269.5:c.874C>A	22.37:g.31740715G>T	ENSP00000266269:p.Leu292Ile		Q9HBE2|Q9HBE3|Q9P1A9|Q9UDU0|Q9Y529	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.L292I	ENST00000266269.5	37	c.874	CCDS13894.1	22	.	.	.	.	.	.	.	.	.	.	G	17.68	3.450609	0.63290	.	.	ENSG00000100105	ENST00000266269;ENST00000405309;ENST00000351933;ENST00000215919	T;T;T;T	0.60920	0.15;0.15;0.15;0.15	4.78	4.78	0.61160	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.138036	0.49305	D	0.000144	T	0.61652	0.2364	N	0.14661	0.345	0.43729	D	0.996219	P;D;P;D	0.56035	0.75;0.974;0.93;0.974	B;D;P;D	0.70487	0.281;0.969;0.472;0.969	T	0.69250	-0.5194	10	0.72032	D	0.01	-8.8875	16.8089	0.85713	0.0:0.0:1.0:0.0	.	292;292;292;292	Q9HBE1-4;Q9HBE1-3;Q9HBE1;Q9HBE1-2	.;.;PATZ1_HUMAN;.	I	292	ENSP00000266269:L292I;ENSP00000384173:L292I;ENSP00000337520:L292I;ENSP00000215919:L292I	ENSP00000215919:L292I	L	-	1	0	PATZ1	30070715	1.000000	0.71417	1.000000	0.80357	0.734000	0.41952	6.117000	0.71577	2.211000	0.71520	0.561000	0.74099	CTT	-	PATZ1	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.652	PATZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PATZ1	HGNC	protein_coding	OTTHUMT00000321932.1	0	0	0	39	39	87	0.00	0.00	G	NM_032052		31740715	-1	13	38	22	65	tier1	no_errors	ENST00000266269	ensembl	human	known	74_37	missense	37.14	36.89	SNP	1.000	T	13	22
FRY	10129	genome.wustl.edu	37	13	32802785	32802785	+	Missense_Mutation	SNP	C	C	A			TCGA-IW-A3M4-01A-11D-A21Q-09	TCGA-IW-A3M4-10B-01D-A21Q-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6aa00162-6294-4ce7-b6b7-0c3452e24cd6	8475f0ef-158e-493e-82b5-44e895dfc0a7	g.chr13:32802785C>A	ENST00000380250.3	+	40	5895	c.5399C>A	c.(5398-5400)aCg>aAg	p.T1800K		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1800						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GAGTTTCTCACGACCAGGTAA	0.493													ENSG00000073910																																					0													92.0	95.0	94.0					13																	32802785		1991	4154	6145	SO:0001583	missense	0			-	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.5399C>A	13.37:g.32802785C>A	ENSP00000369600:p.Thr1800Lys		Q9Y3N6	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.T1800K	ENST00000380250.3	37	c.5399	CCDS41875.1	13	.	.	.	.	.	.	.	.	.	.	C	28.7	4.939489	0.92526	.	.	ENSG00000073910	ENST00000380250;ENST00000380257	T	0.23348	1.91	6.02	6.02	0.97574	.	0.051266	0.85682	D	0.000000	T	0.39860	0.1094	M	0.70595	2.14	0.80722	D	1	P	0.46020	0.871	P	0.47786	0.557	T	0.05178	-1.0901	10	0.17832	T	0.49	.	20.5373	0.99239	0.0:1.0:0.0:0.0	.	1800	Q5TBA9	FRY_HUMAN	K	1800;637	ENSP00000369600:T1800K	ENSP00000369600:T1800K	T	+	2	0	FRY	31700785	1.000000	0.71417	0.967000	0.41034	0.814000	0.46013	7.487000	0.81328	2.857000	0.98124	0.650000	0.86243	ACG	-	FRY	-	NULL		0.493	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRY	HGNC	protein_coding	OTTHUMT00000044405.1	0	0	0	77	77	107	0.00	0.00	C	NM_023037		32802785	+1	30	57	5	14	tier1	no_errors	ENST00000380250	ensembl	human	known	74_37	missense	85.71	80.28	SNP	1.000	A	30	5
TRAF3IP3	80342	genome.wustl.edu	37	1	209955540	209955540	+	3'UTR	SNP	C	C	T			TCGA-IW-A3M4-01A-11D-A21Q-09	TCGA-IW-A3M4-10B-01D-A21Q-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6aa00162-6294-4ce7-b6b7-0c3452e24cd6	8475f0ef-158e-493e-82b5-44e895dfc0a7	g.chr1:209955540C>T	ENST00000367024.1	+	0	2219				TRAF3IP3_ENST00000477431.1_3'UTR|TRAF3IP3_ENST00000367026.3_3'UTR|TRAF3IP3_ENST00000367025.3_3'UTR|TRAF3IP3_ENST00000010338.4_3'UTR			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3							integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		GCAAGCAACTCAGCGAAAAAC	0.388													ENSG00000009790																																					0													52.0	51.0	51.0					1																	209955540		2203	4300	6503	SO:0001624	3_prime_UTR_variant	0			-		CCDS1490.1, CCDS1490.2, CCDS73023.1	1q32.3-q41	2008-02-05			ENSG00000009790	ENSG00000009790			30766	protein-coding gene	gene with protein product	"""TRAF3 interacting Jun N terminal kinase (JNK) activating modulator"""	608255				14572659	Standard	XR_247044		Approved	T3JAM	uc001hho.3	Q9Y228	OTTHUMG00000036480	ENST00000367024.1:c.*47C>T	1.37:g.209955540C>T			A1L464|A6NIU9|Q2YDB5|Q4VY06|Q7Z706	R	SNP	-	NULL	ENST00000367024.1	37	NULL	CCDS1490.2	1																																																																																			-	TRAF3IP3	-	-		0.388	TRAF3IP3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TRAF3IP3	HGNC	protein_coding	OTTHUMT00000088734.2	0	0	1	22	22	170	0.00	0.58	C			209955540	+1	18	50	14	80	tier1	no_errors	ENST00000480569	ensembl	human	known	74_37	rna	56.25	38.46	SNP	0.001	T	18	14
ACE2	59272	genome.wustl.edu	37	X	15579864	15579864	+	3'UTR	SNP	G	G	T			TCGA-IW-A3M4-01A-11D-A21Q-09	TCGA-IW-A3M4-10B-01D-A21Q-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6aa00162-6294-4ce7-b6b7-0c3452e24cd6	8475f0ef-158e-493e-82b5-44e895dfc0a7	g.chrX:15579864G>T	ENST00000252519.3	-	0	2684				ACE2_ENST00000471548.1_5'UTR|ACE2_ENST00000427411.1_3'UTR			Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2						angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|angiotensin-mediated drinking behavior (GO:0003051)|cellular protein metabolic process (GO:0044267)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|receptor biosynthetic process (GO:0032800)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell proliferation (GO:0042127)|regulation of cytokine production (GO:0001817)|regulation of inflammatory response (GO:0050727)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|response to virus (GO:0009615)|viral entry into host cell (GO:0046718)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|endopeptidase activity (GO:0004175)|glycoprotein binding (GO:0001948)|peptide hormone binding (GO:0017046)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Lisinopril(DB00722)|Moexipril(DB00691)	CAATGTCAATGAAGATGCTCT	0.308													ENSG00000130234																																					0																																										SO:0001624	3_prime_UTR_variant	0			-	AF291820	CCDS14169.1	Xp22	2013-06-12	2013-06-12		ENSG00000130234	ENSG00000130234	3.4.17.23		13557	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	300335	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 2"""			10969042	Standard	NM_021804		Approved		uc004cxb.2	Q9BYF1	OTTHUMG00000021177	ENST00000252519.3:c.*164C>A	X.37:g.15579864G>T			C7ECU1|Q6UWP0|Q86WT0|Q9NRA7|Q9UFZ6	R	SNP	-	NULL	ENST00000252519.3	37	NULL	CCDS14169.1	X																																																																																			-	ACE2	-	-		0.308	ACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACE2	HGNC	protein_coding	OTTHUMT00000055867.1	0	0	0	36	36	101	0.00	0.00	G			15579864	-1	19	64	27	57	tier1	no_errors	ENST00000471548	ensembl	human	known	74_37	rna	41.30	52.89	SNP	0.000	T	19	27
REV3L	5980	genome.wustl.edu	37	6	111630922	111630922	+	Intron	SNP	T	T	C			TCGA-IW-A3M4-01A-11D-A21Q-09	TCGA-IW-A3M4-10B-01D-A21Q-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6aa00162-6294-4ce7-b6b7-0c3452e24cd6	8475f0ef-158e-493e-82b5-44e895dfc0a7	g.chr6:111630922T>C	ENST00000358835.3	-	31	9497				REV3L_ENST00000368802.3_Intron|REV3L_ENST00000462119.1_Intron|REV3L_ENST00000435970.1_Intron|REV3L_ENST00000368805.1_Intron|RP5-1112D6.8_ENST00000607434.1_RNA			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit						DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		ccgctttccgtatcaTTTTAC	0.498								DNA polymerases (catalytic subunits)					ENSG00000272356																																					0																																										SO:0001627	intron_variant	0			-	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.9042+133A>G	6.37:g.111630922T>C			O43214|Q5TC33	R	SNP	-	NULL	ENST00000358835.3	37	NULL	CCDS5091.2	6																																																																																			-	RP5-1112D6.8	-	-		0.498	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000272356	Clone_based_vega_gene	protein_coding	OTTHUMT00000043695.1	0	0	0	28	28	46	0.00	0.00	T	NM_002912		111630922	+1	13	24	12	29	tier1	no_errors	ENST00000607434	ensembl	human	known	74_37	rna	52.00	45.28	SNP	0.003	C	13	12
SLC24A4	123041	genome.wustl.edu	37	14	92959954	92959954	+	Missense_Mutation	SNP	G	G	T			TCGA-IW-A3M4-01A-11D-A21Q-09	TCGA-IW-A3M4-10B-01D-A21Q-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6aa00162-6294-4ce7-b6b7-0c3452e24cd6	8475f0ef-158e-493e-82b5-44e895dfc0a7	g.chr14:92959954G>T	ENST00000532405.1	+	17	2077	c.1851G>T	c.(1849-1851)atG>atT	p.M617I	SLC24A4_ENST00000298877.1_Missense_Mutation_p.M600I|SLC24A4_ENST00000351924.5_Missense_Mutation_p.M581I|SLC24A4_ENST00000531433.1_Missense_Mutation_p.M598I|SLC24A4_ENST00000393265.2_Missense_Mutation_p.M553I			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	617					amelogenesis (GO:0097186)|cellular calcium ion homeostasis (GO:0006874)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|sensory perception of smell (GO:0007608)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		ACTTGCCGATGTGCCGGGAAG	0.562													ENSG00000140090																									NSCLC(10;315 435 10383 28450 38798)												0													150.0	120.0	130.0					14																	92959954		2203	4300	6503	SO:0001583	missense	0			-	AF520704	CCDS9903.1, CCDS45155.1, CCDS45156.1, CCDS9903.2, CCDS45155.2	14q32.12	2013-05-22			ENSG00000140090	ENSG00000140090		"""Solute carriers"""	10978	protein-coding gene	gene with protein product		609840					Standard	NM_153646		Approved	NCKX4	uc001yak.3	Q8NFF2	OTTHUMG00000167589	ENST00000532405.1:c.1851G>T	14.37:g.92959954G>T	ENSP00000431840:p.Met617Ile		B4DHE7|B9ZVY2|Q8N8U6|Q8NCX1|Q8NFF0|Q8NFF1	Missense_Mutation	SNP	pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger	p.M617I	ENST00000532405.1	37	c.1851	CCDS9903.2	14	.	.	.	.	.	.	.	.	.	.	G	22.0	4.230516	0.79688	.	.	ENSG00000140090	ENST00000393265;ENST00000531433;ENST00000532405;ENST00000298877;ENST00000351924	T;T;T;T;T	0.68181	-0.3;0.11;0.1;-0.3;-0.31	5.51	5.51	0.81932	.	0.036642	0.85682	D	0.000000	T	0.65637	0.2710	M	0.62723	1.935	0.80722	D	1	B;B	0.28208	0.203;0.066	B;B	0.32211	0.142;0.028	T	0.62167	-0.6911	10	0.09338	T	0.73	.	19.4056	0.94646	0.0:0.0:1.0:0.0	.	598;617	Q8NFF2-3;Q8NFF2	.;NCKX4_HUMAN	I	553;598;617;600;581	ENSP00000376948:M553I;ENSP00000433302:M598I;ENSP00000431840:M617I;ENSP00000298877:M600I;ENSP00000337789:M581I	ENSP00000298877:M600I	M	+	3	0	SLC24A4	92029707	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	9.751000	0.98889	2.582000	0.87167	0.655000	0.94253	ATG	-	SLC24A4	-	NULL		0.562	SLC24A4-001	KNOWN	basic|CCDS	protein_coding	SLC24A4	HGNC	protein_coding	OTTHUMT00000395240.1	0	0	0	151	151	52	0.00	0.00	G	NM_153646		92959954	+1	66	16	12	10	tier1	no_errors	ENST00000532405	ensembl	human	known	74_37	missense	84.62	61.54	SNP	1.000	T	66	12
IRS4	8471	genome.wustl.edu	37	X	107975899	107975899	+	Missense_Mutation	SNP	G	G	A			TCGA-IW-A3M4-01A-11D-A21Q-09	TCGA-IW-A3M4-10B-01D-A21Q-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6aa00162-6294-4ce7-b6b7-0c3452e24cd6	8475f0ef-158e-493e-82b5-44e895dfc0a7	g.chrX:107975899G>A	ENST00000372129.2	-	1	3752	c.3676C>T	c.(3676-3678)Ccg>Tcg	p.P1226S	RP6-24A23.6_ENST00000563887.1_Missense_Mutation_p.P7S	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	1226					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						TCTCTCTCCGGGGGTCTTGGC	0.572													ENSG00000133124																																					0													105.0	106.0	105.0					X																	107975899		2203	4300	6503	SO:0001583	missense	0			-	AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.3676C>T	X.37:g.107975899G>A	ENSP00000361202:p.Pro1226Ser			Missense_Mutation	SNP	pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1	p.P1226S	ENST00000372129.2	37	c.3676	CCDS14544.1	X	.	.	.	.	.	.	.	.	.	.	G	15.62	2.887156	0.52014	.	.	ENSG00000133124	ENST00000372129	T	0.42131	0.98	4.39	3.53	0.40419	.	0.768746	0.11742	N	0.533909	T	0.25232	0.0613	N	0.24115	0.695	0.20703	N	0.999864	B	0.25312	0.123	B	0.15870	0.014	T	0.15925	-1.0420	10	0.20046	T	0.44	0.0119	7.1375	0.25537	0.1213:0.0:0.8787:0.0	.	1226	O14654	IRS4_HUMAN	S	1226	ENSP00000361202:P1226S	ENSP00000361202:P1226S	P	-	1	0	IRS4	107862555	0.912000	0.30974	0.752000	0.31206	0.523000	0.34469	2.345000	0.44018	1.199000	0.43173	0.600000	0.82982	CCG	-	IRS4	-	NULL		0.572	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRS4	HGNC	protein_coding	OTTHUMT00000057879.1	0	0	0	72	72	82	0.00	0.00	G	NM_003604		107975899	-1	46	23	43	44	tier1	no_errors	ENST00000372129	ensembl	human	known	74_37	missense	51.11	34.33	SNP	0.702	A	46	43
MUC17	140453	genome.wustl.edu	37	7	100687050	100687050	+	Missense_Mutation	SNP	C	C	A	rs200507888		TCGA-IW-A3M4-01A-11D-A21Q-09	TCGA-IW-A3M4-10B-01D-A21Q-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6aa00162-6294-4ce7-b6b7-0c3452e24cd6	8475f0ef-158e-493e-82b5-44e895dfc0a7	g.chr7:100687050C>A	ENST00000306151.4	+	3	12417	c.12353C>A	c.(12352-12354)aCa>aAa	p.T4118K		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4118					cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACGAATACTACAATTAAGAGC	0.468													ENSG00000169876																																					0													128.0	135.0	132.0					7																	100687050		2203	4300	6503	SO:0001583	missense	0			GMAF=0.0005	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.12353C>A	7.37:g.100687050C>A	ENSP00000302716:p.Thr4118Lys		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom	p.T4118K	ENST00000306151.4	37	c.12353	CCDS34711.1	7	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	1.226	-0.625529	0.03610	.	.	ENSG00000169876	ENST00000306151	T	0.02787	4.16	1.08	1.08	0.20341	.	.	.	.	.	T	0.01320	0.0043	N	0.03608	-0.345	0.09310	N	1	B	0.19200	0.034	B	0.12837	0.008	T	0.49643	-0.8918	9	0.17832	T	0.49	.	5.5507	0.17089	0.0:1.0:0.0:0.0	.	4118	Q685J3	MUC17_HUMAN	K	4118	ENSP00000302716:T4118K	ENSP00000302716:T4118K	T	+	2	0	MUC17	100473770	0.001000	0.12720	0.004000	0.12327	0.004000	0.04260	0.542000	0.23222	0.544000	0.28883	0.549000	0.68633	ACA	rs200507888	MUC17	-	NULL		0.468	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	HGNC	protein_coding	OTTHUMT00000347161.1	0	0	0	35	35	98	0.00	0.00	C	NM_001040105		100687050	+1	14	61	10	47	tier1	no_errors	ENST00000306151	ensembl	human	known	74_37	missense	58.33	56.48	SNP	0.001	A	14	10
DNAH14	127602	genome.wustl.edu	37	1	225534313	225534313	+	Missense_Mutation	SNP	A	A	G			TCGA-IW-A3M4-01A-11D-A21Q-09	TCGA-IW-A3M4-10B-01D-A21Q-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6aa00162-6294-4ce7-b6b7-0c3452e24cd6	8475f0ef-158e-493e-82b5-44e895dfc0a7	g.chr1:225534313A>G	ENST00000445597.2	+	49	8565	c.8565A>G	c.(8563-8565)atA>atG	p.I2855M	DNAH14_ENST00000439375.2_Missense_Mutation_p.I3658M|DNAH14_ENST00000430092.1_Missense_Mutation_p.I3658M			Q0VDD8	DYH14_HUMAN	dynein, axonemal, heavy chain 14	2855					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(2)|lung(2)|skin(2)|stomach(1)	27						ATTCTGGCATATTGATAAATA	0.323													ENSG00000185842																																					0													67.0	61.0	63.0					1																	225534313		692	1582	2274	SO:0001583	missense	0			-	U61741	CCDS41472.1, CCDS44322.1	1q42.13	2009-02-12	2006-09-04		ENSG00000185842	ENSG00000185842		"""Axonemal dyneins"""	2945	protein-coding gene	gene with protein product		603341	"""dynein, axonemal, heavy polypeptide 14"", ""chromosome 1 open reading frame 67"""	C1orf67		8812413	Standard	NM_144989		Approved	Dnahc14, HL-18, HL18, DKFZp781B1548, MGC27277	uc001how.2	Q0VDD8	OTTHUMG00000037447	ENST00000445597.2:c.8565A>G	1.37:g.225534313A>G	ENSP00000409472:p.Ile2855Met		A6NG62|A6NNL2|Q0VDD9|Q4VXC7|Q4VXG4|Q4VXG5|Q5VU33|Q5VU34	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Tautomerase/MIF_sf,smart_AAA+_ATPase	p.I3658M	ENST00000445597.2	37	c.10974		1	.	.	.	.	.	.	.	.	.	.	A	9.757	1.168992	0.21621	.	.	ENSG00000185842	ENST00000445597;ENST00000430092;ENST00000439375	T;T;T	0.43688	0.94;0.94;0.94	5.48	-4.71	0.03279	.	.	.	.	.	T	0.20455	0.0492	.	.	.	0.09310	N	0.999999	B	0.20671	0.047	B	0.15484	0.013	T	0.15435	-1.0437	8	0.31617	T	0.26	.	2.1683	0.03843	0.3286:0.2239:0.3372:0.1103	.	3658	Q0VDD8-4	.	M	2855;3658;3658	ENSP00000409472:I2855M;ENSP00000414402:I3658M;ENSP00000392061:I3658M	ENSP00000414402:I3658M	I	+	3	3	DNAH14	223600936	0.000000	0.05858	0.000000	0.03702	0.995000	0.86356	-1.791000	0.01758	-1.149000	0.02843	0.416000	0.27883	ATA	-	DH14	-	NULL		0.323	DNAH14-007	PUTATIVE	basic|exp_conf	protein_coding	DH14	HGNC	protein_coding	OTTHUMT00000331217.3	0	0	0	24	24	99	0.00	0.00	A	XM_059166		225534313	+1	12	51	12	49	tier1	no_errors	ENST00000430092	ensembl	human	known	74_37	missense	50.00	51.00	SNP	0.002	G	12	12
LYST	1130	genome.wustl.edu	37	1	235950617	235950617	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IW-A3M4-01A-11D-A21Q-09	TCGA-IW-A3M4-10B-01D-A21Q-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6aa00162-6294-4ce7-b6b7-0c3452e24cd6	8475f0ef-158e-493e-82b5-44e895dfc0a7	g.chr1:235950617G>T	ENST00000389794.3	-	14	4919	c.4745C>A	c.(4744-4746)tCa>tAa	p.S1582*	LYST_ENST00000536965.1_3'UTR|LYST_ENST00000389793.2_Nonsense_Mutation_p.S1582*			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1582					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			ATTCTCCTGTGATTCAACCTG	0.398													ENSG00000143669																																					0													195.0	191.0	193.0					1																	235950617		2203	4300	6503	SO:0001587	stop_gained	0			-	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.4745C>A	1.37:g.235950617G>T	ENSP00000374444:p.Ser1582*		O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Nonsense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S1582*	ENST00000389794.3	37	c.4745	CCDS31062.1	1	.	.	.	.	.	.	.	.	.	.	G	46	12.455685	0.99669	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	.	.	.	5.86	5.86	0.93980	.	0.166095	0.56097	D	0.000034	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.1739	0.98173	0.0:0.0:1.0:0.0	.	.	.	.	X	1582	.	ENSP00000374443:S1582X	S	-	2	0	LYST	234017240	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.209000	0.95087	2.774000	0.95407	0.585000	0.79938	TCA	-	LYST	-	superfamily_ARM-type_fold		0.398	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYST	HGNC	protein_coding	OTTHUMT00000097533.5	1	1	0	100	100	92	0.99	0.00	G			235950617	-1	38	41	46	53	tier1	no_errors	ENST00000389793	ensembl	human	known	74_37	nonsense	45.24	43.62	SNP	1.000	T	38	46
CYP2C19	1557	genome.wustl.edu	37	10	96534925	96534925	+	Missense_Mutation	SNP	G	G	T			TCGA-IW-A3M4-01A-11D-A21Q-09	TCGA-IW-A3M4-10B-01D-A21Q-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6aa00162-6294-4ce7-b6b7-0c3452e24cd6	8475f0ef-158e-493e-82b5-44e895dfc0a7	g.chr10:96534925G>T	ENST00000371321.3	+	2	361	c.279G>T	c.(277-279)gaG>gaT	p.E93D	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	93					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Acenocoumarol(DB01418)|Acetylsalicylic acid(DB00945)|Adinazolam(DB00546)|Almotriptan(DB00918)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Benzatropine(DB00245)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bortezomib(DB00188)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carisoprodol(DB00395)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clevidipine(DB04920)|Clobazam(DB00349)|Clomipramine(DB01242)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enfuvirtide(DB00109)|Enzalutamide(DB08899)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estradiol(DB00783)|Ethanol(DB00898)|Ethotoin(DB00754)|Etoricoxib(DB01628)|Etravirine(DB06414)|Famotidine(DB00927)|Felbamate(DB00949)|Fluconazole(DB00196)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Gliclazide(DB01120)|Glucosamine(DB01296)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Hexobarbital(DB01355)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Indomethacin(DB00328)|Isoniazid(DB00951)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumiracoxib(DB01283)|MACITENTAN(DB08932)|Melatonin(DB01065)|Memantine(DB01043)|Meprobamate(DB00371)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methsuximide(DB05246)|Methylphenobarbital(DB00849)|Metoprolol(DB00264)|Miconazole(DB01110)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nicotine(DB00184)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Norethindrone(DB00717)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ospemifene(DB04938)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Pantoprazole(DB00213)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phensuximide(DB00832)|Phenytoin(DB00252)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Prasugrel(DB06209)|Praziquantel(DB01058)|Prednisone(DB00635)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propofol(DB00818)|Propranolol(DB00571)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Telmisartan(DB00966)|Temazepam(DB00231)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Timolol(DB00373)|Tioconazole(DB01007)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tolbutamide(DB01124)|Tolterodine(DB01036)|Topiramate(DB00273)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zolpidem(DB00425)|Zonisamide(DB00909)	TTGGAGAGGAGTTTTCTGGAA	0.507													ENSG00000165841																																					0													232.0	215.0	221.0					10																	96534925		2203	4300	6503	SO:0001583	missense	0			-	M61854	CCDS7436.1	10q24	2007-12-14	2003-01-14		ENSG00000165841	ENSG00000165841		"""Cytochrome P450s"""	2621	protein-coding gene	gene with protein product		124020	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 19"""	CYP2C		2009263, 8530044	Standard	NM_000769		Approved	P450IIC19, CPCJ	uc010qnz.2	P33261	OTTHUMG00000018799	ENST00000371321.3:c.279G>T	10.37:g.96534925G>T	ENSP00000360372:p.Glu93Asp		P33259|Q8WZB1|Q8WZB2|Q9UCD4	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.E93D	ENST00000371321.3	37	c.279	CCDS7436.1	10	.	.	.	.	.	.	.	.	.	.	G	9.439	1.087510	0.20390	.	.	ENSG00000165841	ENST00000371321	T	0.68765	-0.35	3.74	2.82	0.32997	.	0.295211	0.27816	U	0.017728	T	0.51907	0.1702	L	0.33792	1.035	0.27177	N	0.960761	B	0.06786	0.001	B	0.09377	0.004	T	0.44862	-0.9300	10	0.41790	T	0.15	.	9.2976	0.37824	0.1127:0.0:0.8873:0.0	.	93	P33261	CP2CJ_HUMAN	D	93	ENSP00000360372:E93D	ENSP00000360372:E93D	E	+	3	2	CYP2C19	96524915	0.681000	0.27614	0.965000	0.40720	0.347000	0.29111	-0.302000	0.08221	0.686000	0.31488	0.405000	0.27470	GAG	-	CYP2C19	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I		0.507	CYP2C19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2C19	HGNC	protein_coding	OTTHUMT00000049490.1	0	0	0	230	230	97	0.00	0.00	G	NM_000769		96534925	+1	113	46	118	62	tier1	no_errors	ENST00000371321	ensembl	human	known	74_37	missense	48.92	42.59	SNP	1.000	T	113	118
SPINK13	153218	genome.wustl.edu	37	5	147653942	147653942	+	Missense_Mutation	SNP	C	C	T			TCGA-IW-A3M4-01A-11D-A21Q-09	TCGA-IW-A3M4-10B-01D-A21Q-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6aa00162-6294-4ce7-b6b7-0c3452e24cd6	8475f0ef-158e-493e-82b5-44e895dfc0a7	g.chr5:147653942C>T	ENST00000512953.1	+	4	634	c.103C>T	c.(103-105)Cct>Tct	p.P35S	SPINK13_ENST00000511106.1_5'UTR|RP11-373N22.3_ENST00000501695.3_RNA|SPINK13_ENST00000398450.4_Missense_Mutation_p.P35S			Q1W4C9	ISK13_HUMAN	serine peptidase inhibitor, Kazal type 13 (putative)	35	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				negative regulation of acrosome reaction (GO:1902225)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|lung(3)	5						CACTAGGTGGCCTAAGGTAAA	0.353													ENSG00000214510																																					0													150.0	155.0	153.0					5																	147653942		1832	4080	5912	SO:0001583	missense	0			-		CCDS43383.1	5q32	2011-08-31			ENSG00000214510	ENSG00000214510		"""Serine peptidase inhibitors, Kazal type"""	27200	protein-coding gene	gene with protein product		615205					Standard	NM_001040129		Approved	SPINK5L3, LiESP6, HESPINTOR, MGC149260, HBVDNAPTP1	uc003lpc.3	Q1W4C9	OTTHUMG00000163426	ENST00000512953.1:c.103C>T	5.37:g.147653942C>T	ENSP00000421048:p.Pro35Ser		A1A4Y2	Missense_Mutation	SNP	pfam_Kazal_dom,smart_Kazal_dom	p.P35S	ENST00000512953.1	37	c.103	CCDS43383.1	5	.	.	.	.	.	.	.	.	.	.	C	11.95	1.790217	0.31685	.	.	ENSG00000214510	ENST00000512953;ENST00000398450	T;T	0.74315	-0.83;-0.83	3.56	1.71	0.24356	.	.	.	.	.	T	0.58380	0.2118	.	.	.	0.09310	N	0.999992	P	0.43857	0.819	B	0.35114	0.196	T	0.53753	-0.8394	8	0.87932	D	0	-17.9037	4.2877	0.10863	0.2242:0.6564:0.0:0.1194	.	35	Q1W4C9	ISK13_HUMAN	S	35	ENSP00000421048:P35S;ENSP00000381468:P35S	ENSP00000381468:P35S	P	+	1	0	SPINK13	147634135	0.999000	0.42202	0.315000	0.25238	0.062000	0.15995	1.425000	0.34859	0.475000	0.27415	0.597000	0.82753	CCT	-	SPINK13	-	NULL		0.353	SPINK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPINK13	HGNC	protein_coding	OTTHUMT00000373337.1	0	0	0	47	47	91	0.00	0.00	C	NM_001040129.2		147653942	+1	19	19	21	61	tier1	no_errors	ENST00000398450	ensembl	human	known	74_37	missense	47.50	23.75	SNP	0.376	T	19	21
LCP2	3937	genome.wustl.edu	37	5	169685121	169685121	+	Silent	SNP	G	G	A	rs373164419		TCGA-IW-A3M4-01A-11D-A21Q-09	TCGA-IW-A3M4-10B-01D-A21Q-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6aa00162-6294-4ce7-b6b7-0c3452e24cd6	8475f0ef-158e-493e-82b5-44e895dfc0a7	g.chr5:169685121G>A	ENST00000046794.5	-	16	1635	c.1020C>T	c.(1018-1020)aaC>aaT	p.N340N	LCP2_ENST00000521416.1_Silent_p.N135N	NM_005565.3	NP_005556.1	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)	340					blood coagulation (GO:0007596)|cytokine secretion (GO:0050663)|Fc-epsilon receptor signaling pathway (GO:0038095)|immune response (GO:0006955)|innate immune response (GO:0045087)|mast cell activation (GO:0045576)|platelet activation (GO:0030168)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)				cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		AAGGGAAAGTGTTGGAGCTCA	0.493													ENSG00000043462																																					0								G		0,3882		0,0,1941	235.0	233.0	234.0		1020	1.5	1.0	5		234	1,8277		0,1,4138	no	coding-synonymous	LCP2	NM_005565.3		0,1,6079	AA,AG,GG		0.0121,0.0,0.0082		340/534	169685121	1,12159	1941	4139	6080	SO:0001819	synonymous_variant	0			-		CCDS47339.1	5q35.1	2013-02-14	2002-08-29		ENSG00000043462	ENSG00000043462		"""SH2 domain containing"""	6529	protein-coding gene	gene with protein product	"""76 kDa tyrosine phosphoprotein"", ""SH2 domain-containing leukocyte protein of 76kD"""	601603	"""lymphocyte cytosolic protein 2 (SH2 domain-containing leukocyte protein of 76kD)"""	SLP76		7706237	Standard	NM_005565		Approved	SLP-76	uc003man.1	Q13094	OTTHUMG00000163121	ENST00000046794.5:c.1020C>T	5.37:g.169685121G>A			A8KA25|Q53XV4	Silent	SNP	pfam_SH2,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,smart_SH2,pfscan_SH2	p.N340	ENST00000046794.5	37	c.1020	CCDS47339.1	5																																																																																			-	LCP2	-	NULL		0.493	LCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCP2	HGNC	protein_coding	OTTHUMT00000371727.1	0	0	0	30	30	128	0.00	0.00	G	NM_005565		169685121	-1	11	44	17	87	tier1	no_errors	ENST00000046794	ensembl	human	known	74_37	silent	39.29	33.59	SNP	1.000	A	11	17
ZNF514	84874	genome.wustl.edu	37	2	95815475	95815475	+	Missense_Mutation	SNP	C	C	G			TCGA-IW-A3M4-01A-11D-A21Q-09	TCGA-IW-A3M4-10B-01D-A21Q-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6aa00162-6294-4ce7-b6b7-0c3452e24cd6	8475f0ef-158e-493e-82b5-44e895dfc0a7	g.chr2:95815475C>G	ENST00000295208.2	-	5	1217	c.755G>C	c.(754-756)aGa>aCa	p.R252T	ZNF514_ENST00000411425.1_Missense_Mutation_p.R252T|MRPS5_ENST00000475040.1_5'Flank	NM_032788.1	NP_116177.1	Q96K75	ZN514_HUMAN	zinc finger protein 514	252					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R252I(1)		large_intestine(4)|lung(6)|urinary_tract(1)	11						AGTATGAGTTCTTTGATGTTT	0.453													ENSG00000144026																																					1	Substitution - Missense(1)	large_intestine(1)											107.0	114.0	112.0					2																	95815475		2203	4300	6503	SO:0001583	missense	0			-	AL832263	CCDS2011.1	2q11.2	2013-01-08			ENSG00000144026	ENSG00000144026		"""Zinc fingers, C2H2-type"", ""-"""	25894	protein-coding gene	gene with protein product							Standard	NM_032788		Approved	FLJ14457	uc002sue.1	Q96K75	OTTHUMG00000130391	ENST00000295208.2:c.755G>C	2.37:g.95815475C>G	ENSP00000295208:p.Arg252Thr		Q5JPJ3	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.R252T	ENST00000295208.2	37	c.755	CCDS2011.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.20|19.20	3.782437|3.782437	0.70222|0.70222	.|.	.|.	ENSG00000144026|ENSG00000144026	ENST00000542127|ENST00000295208;ENST00000411425	.|T;T	.|0.02421	.|4.3;4.3	3.18|3.18	3.18|3.18	0.36537|0.36537	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|.	.|.	.|.	.|.	.|T	.|0.12817	.|0.0311	M|M	0.73319|0.73319	2.225|2.225	0.30823|0.30823	N|N	0.737572|0.737572	.|D;P	.|0.76494	.|0.999;0.543	.|D;B	.|0.72625	.|0.978;0.243	.|T	.|0.00749	.|-1.1582	.|9	.|0.72032	.|D	.|0.01	.|.	12.6059|12.6059	0.56523|0.56523	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|252;71	.|Q96K75;Q658L7	.|ZN514_HUMAN;.	.|T	-1|252	.|ENSP00000295208:R252T;ENSP00000405509:R252T	.|ENSP00000295208:R252T	.|R	-|-	.|2	.|0	ZNF514|ZNF514	95179202|95179202	0.000000|0.000000	0.05858|0.05858	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	0.782000|0.782000	0.26788|0.26788	2.065000|2.065000	0.61736|0.61736	0.655000|0.655000	0.94253|0.94253	.|AGA	-	ZNF514	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.453	ZNF514-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF514	HGNC	protein_coding	OTTHUMT00000252769.1	0	0	0	85	85	64	0.00	0.00	C	NM_032788		95815475	-1	58	41	52	40	tier1	no_errors	ENST00000295208	ensembl	human	known	74_37	missense	52.73	50.62	SNP	1.000	G	58	52
SAPCD1	401251	genome.wustl.edu	37	6	31732142	31732142	+	Intron	SNP	A	A	T			TCGA-IW-A3M4-01A-11D-A21Q-09	TCGA-IW-A3M4-10B-01D-A21Q-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6aa00162-6294-4ce7-b6b7-0c3452e24cd6	8475f0ef-158e-493e-82b5-44e895dfc0a7	g.chr6:31732142A>T	ENST00000425424.1	+	4	410				MSH5-SAPCD1_ENST00000493662.2_Intron|SAPCD1_ENST00000415669.2_Intron|SAPCD1-AS1_ENST00000419679.1_RNA|MSH5_ENST00000534153.4_Intron|VWA7_ENST00000467576.1_5'Flank			Q5SSQ6	SAPC1_HUMAN	suppressor APC domain containing 1																		GGTAAACTTCAAGAAGGAGGG	0.562													ENSG00000235663																																					0													56.0	54.0	54.0					6																	31732142		2203	4300	6503	SO:0001627	intron_variant	0			-		CCDS34411.1	6p21	2011-12-13	2011-12-13	2011-12-13	ENSG00000228727	ENSG00000228727			13938	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 26"""	C6orf26			Standard	NM_001039651		Approved	NG23		Q5SSQ6	OTTHUMG00000031131	ENST00000425424.1:c.352-71A>T	6.37:g.31732142A>T			A2ABF2|A2ABS9|Q9Y335	R	SNP	-	NULL	ENST00000425424.1	37	NULL		6																																																																																			-	SAPCD1-AS1	-	-		0.562	SAPCD1-203	KNOWN	basic	protein_coding	SAPCD1-AS1	HGNC	protein_coding		0	0	0	38	38	79	0.00	0.00	A	NM_001039651		31732142	-1	16	46	24	39	tier1	no_errors	ENST00000419679	ensembl	human	known	74_37	rna	40.00	54.12	SNP	0.000	T	16	24
KANSL1	284058	genome.wustl.edu	37	17	44144914	44144914	+	Splice_Site	SNP	C	C	A	rs281865470		TCGA-IW-A3M4-01A-11D-A21Q-09	TCGA-IW-A3M4-10B-01D-A21Q-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6aa00162-6294-4ce7-b6b7-0c3452e24cd6	8475f0ef-158e-493e-82b5-44e895dfc0a7	g.chr17:44144914C>A	ENST00000262419.6	-	5	2123		c.e5+1		KANSL1_ENST00000572904.1_Splice_Site|KANSL1_ENST00000432791.1_Splice_Site|KANSL1_ENST00000393476.3_Splice_Site|KANSL1_ENST00000574590.1_Splice_Site|KANSL1_ENST00000575318.1_Splice_Site	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1						chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.?(1)									CTAAAACTTACGTGTTAATAA	0.413													ENSG00000120071																																					1	Unknown(1)	endometrium(1)											116.0	103.0	107.0					17																	44144914		2203	4300	6503	SO:0001630	splice_region_variant	0			-	BX538006	CCDS11503.1, CCDS11503.2, CCDS74084.1	17q21.31	2012-02-20	2012-02-20	2012-02-20	ENSG00000120071	ENSG00000120071			24565	protein-coding gene	gene with protein product	"""centromere protein 36"""	612452	"""KIAA1267"""	KIAA1267		10574462	Standard	NM_015443		Approved	DKFZP727C091, MSL1v1, CENP-36, NSL1	uc002ikd.3	Q7Z3B3		ENST00000262419.6:c.1652+1G>T	17.37:g.44144914C>A			A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Splice_Site	SNP	-	e4+1	ENST00000262419.6	37	c.1652+1	CCDS11503.1	17	.	.	.	.	.	.	.	.	.	.	C	17.98	3.521123	0.64747	.	.	ENSG00000120071	ENST00000262419;ENST00000432791	.	.	.	5.23	5.23	0.72850	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5344	0.75990	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIAA1267	41500736	1.000000	0.71417	1.000000	0.80357	0.708000	0.40852	5.286000	0.65639	2.432000	0.82394	0.655000	0.94253	.	-	KANSL1	-	-		0.413	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KANSL1	HGNC	protein_coding	OTTHUMT00000440274.1	0	0	0	32	32	115	0.00	0.00	C	NM_015443	Intron	44144914	-1	16	44	57	129	tier1	no_errors	ENST00000262419	ensembl	human	known	74_37	splice_site	21.92	25.43	SNP	1.000	A	16	57
PTPRT	11122	genome.wustl.edu	37	20	40979337	40979337	+	Frame_Shift_Del	DEL	G	G	-			TCGA-IW-A3M4-01A-11D-A21Q-09	TCGA-IW-A3M4-10B-01D-A21Q-09	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6aa00162-6294-4ce7-b6b7-0c3452e24cd6	8475f0ef-158e-493e-82b5-44e895dfc0a7	g.chr20:40979337delG	ENST00000373187.1	-	11	1795	c.1796delC	c.(1795-1797)ccafs	p.P599fs	PTPRT_ENST00000373198.4_Frame_Shift_Del_p.P599fs|PTPRT_ENST00000373201.1_Frame_Shift_Del_p.P599fs|PTPRT_ENST00000373193.3_Frame_Shift_Del_p.P599fs|PTPRT_ENST00000373184.1_Frame_Shift_Del_p.P599fs|PTPRT_ENST00000356100.2_Frame_Shift_Del_p.P599fs|PTPRT_ENST00000373190.1_Frame_Shift_Del_p.P599fs			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	599	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CTCATTCAATGGGGTGTCTGT	0.562													ENSG00000196090																																					0													167.0	173.0	171.0					20																	40979337		2089	4221	6310	SO:0001589	frameshift_variant	0				AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.1796delC	20.37:g.40979337delG	ENSP00000362283:p.Pro599fs		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Frame_Shift_Del	DEL	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.P599fs	ENST00000373187.1	37	c.1796	CCDS42874.1	20																																																																																				PTPRT	-	NULL		0.562	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRT	HGNC	protein_coding	OTTHUMT00000080315.1	0	0	0	98	98	38	0.00	0.00	G			40979337	-1	42	15	51	21	tier1	no_errors	ENST00000373198	ensembl	human	known	74_37	frame_shift_del	45.16	41.67	DEL	0.994	-	42	51
MORC3	23515	genome.wustl.edu	37	21	37709262	37709272	+	Frame_Shift_Del	DEL	ATGGGAATGGT	ATGGGAATGGT	-			TCGA-IW-A3M4-01A-11D-A21Q-09	TCGA-IW-A3M4-10B-01D-A21Q-09	ATGGGAATGGT	ATGGGAATGGT	ATGGGAATGGT	-	ATGGGAATGGT	ATGGGAATGGT	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6aa00162-6294-4ce7-b6b7-0c3452e24cd6	8475f0ef-158e-493e-82b5-44e895dfc0a7	g.chr21:37709262_37709272delATGGGAATGGT	ENST00000400485.1	+	3	279_289	c.203_213delATGGGAATGGT	c.(202-213)aatgggaatggtfs	p.NGNG68fs	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	68					cell aging (GO:0007569)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of fibroblast proliferation (GO:0048147)|peptidyl-serine phosphorylation (GO:0018105)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)	PML body (GO:0016605)	zinc ion binding (GO:0008270)	p.G69E(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						TTCACCGACAATGGGAATGGTATGACTTCTG	0.346													ENSG00000159256																																					1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)																																								SO:0001589	frameshift_variant	0				AK025327	CCDS42924.1	21q22.13	2005-06-15	2005-06-15	2005-06-15	ENSG00000159256	ENSG00000159256			23572	protein-coding gene	gene with protein product		610078	"""zinc finger, CW-type with coiled-coil domain 3"", ""zinc finger, CW type with coiled-coil domain 3"""	ZCWCC3		14607086	Standard	NM_015358		Approved	ZCW5, NXP2, KIAA0136	uc002yvi.3	Q14149	OTTHUMG00000086620	ENST00000400485.1:c.203_213delATGGGAATGGT	21.37:g.37709262_37709272delATGGGAATGGT	ENSP00000383333:p.Asn68fs		A8KA92|Q9UEZ2	Frame_Shift_Del	DEL	pfam_Znf_CW,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,pfscan_Znf_CW	p.G69fs	ENST00000400485.1	37	c.203_213	CCDS42924.1	21																																																																																				MORC3	-	pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd		0.346	MORC3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MORC3	HGNC	protein_coding	OTTHUMT00000194640.1	0	0	0	82	82	82	0.00	0.00	ATGGGAATGGT	NM_015358		37709272	+1	15	15	87	87	tier1	no_errors	ENST00000400485	ensembl	human	known	74_37	frame_shift_del	14.71	14.71	DEL	1.000:0.999:1.000:1.000:0.996:1.000:1.000:0.967:1.000:1.000:0.229	-	15	87
TCEB3	6924	genome.wustl.edu	37	1	24078180	24078181	+	Frame_Shift_Ins	INS	-	-	G			TCGA-IW-A3M4-01A-11D-A21Q-09	TCGA-IW-A3M4-10B-01D-A21Q-09	-	-	-	G	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6aa00162-6294-4ce7-b6b7-0c3452e24cd6	8475f0ef-158e-493e-82b5-44e895dfc0a7	g.chr1:24078180_24078181insG	ENST00000418390.2	+	4	1434_1435	c.1163_1164insG	c.(1162-1167)aaagagfs	p.E389fs	TCEB3_ENST00000609199.1_Frame_Shift_Ins_p.E363fs	NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	389					gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		CCCAAGGTAAAAGAGAAGGGTT	0.455											OREG0013232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	ENSG00000011007																																					0																																										SO:0001589	frameshift_variant	0				L47345	CCDS239.2	1p36.1	2010-06-22	2002-08-29		ENSG00000011007	ENSG00000011007			11620	protein-coding gene	gene with protein product		600786	"""transcription elongation factor B (SIII), polypeptide 3 (110kD, elongin A)"""			8586449, 7660129	Standard	NM_003198		Approved	SIII, TCEB3A	uc001bho.3	Q14241	OTTHUMG00000002957	Exception_encountered	1.37:g.24078180_24078181insG	ENSP00000395574:p.Glu389fs	768	B2R7Q8|Q8IXH1	Frame_Shift_Ins	INS	pfam_R_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,pfscan_F-box_dom	p.E389fs	ENST00000418390.2	37	c.1163_1164	CCDS239.2	1																																																																																				TCEB3	-	NULL		0.455	TCEB3-001	KNOWN	basic|CCDS	protein_coding	TCEB3	HGNC	protein_coding	OTTHUMT00000008230.2	0	0	0	19	19	183	0.00	0.00	-	NM_003198		24078181	+1	8	86	3	12	tier1	no_errors	ENST00000418390	ensembl	human	known	74_37	frame_shift_ins	72.73	87.76	INS	0.995:0.995	G	8	3
OPLAH	26873	genome.wustl.edu	37	8	145111873	145111873	+	Silent	SNP	G	G	A			TCGA-IW-A3M4-01A-11D-A21Q-09	TCGA-IW-A3M4-10B-01D-A21Q-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6aa00162-6294-4ce7-b6b7-0c3452e24cd6	8475f0ef-158e-493e-82b5-44e895dfc0a7	g.chr8:145111873G>A	ENST00000426825.1	-	12	1765	c.1684C>T	c.(1684-1686)Ctg>Ttg	p.L562L	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	562					glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	5-oxoprolinase (ATP-hydrolyzing) activity (GO:0017168)|ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-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;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGGGCCTGCAGAGCATCCACA	0.647													ENSG00000178814																																					0													18.0	24.0	22.0					8																	145111873		2085	4223	6308	SO:0001819	synonymous_variant	0			-	AF024672, AB122018	CCDS75802.1	8q24.3	2010-11-23			ENSG00000178814	ENSG00000178814	3.5.2.9		8149	protein-coding gene	gene with protein product		614243				14993790	Standard	NM_017570		Approved	OPLA, 5-Opase	uc003zar.3	O14841		ENST00000426825.1:c.1684C>T	8.37:g.145111873G>A			A5PKY8|Q75W65|Q9Y4Q0	Silent	SNP	pfam_Hydantoinase_B,pfam_Hydantoinase_A,pfam_Hydant_A_N	p.L562	ENST00000426825.1	37	c.1684		8																																																																																			-	OPLAH	-	NULL		0.647	OPLAH-201	KNOWN	basic|appris_principal	protein_coding	OPLAH	HGNC	protein_coding		0	0	0	11	11	15	0.00	0.00	G	NM_017570		145111873	-1	9	5	14	7	tier1	no_errors	ENST00000426825	ensembl	human	known	74_37	silent	39.13	41.67	SNP	0.975	A	9	14
VPS13A	23230	genome.wustl.edu	37	9	79824413	79824413	+	Missense_Mutation	SNP	A	A	G			TCGA-IW-A3M4-01A-11D-A21Q-09	TCGA-IW-A3M4-10B-01D-A21Q-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6aa00162-6294-4ce7-b6b7-0c3452e24cd6	8475f0ef-158e-493e-82b5-44e895dfc0a7	g.chr9:79824413A>G	ENST00000360280.3	+	6	720	c.460A>G	c.(460-462)Aaa>Gaa	p.K154E	VPS13A_ENST00000376636.3_Missense_Mutation_p.K154E|VPS13A_ENST00000376634.4_Missense_Mutation_p.K154E|VPS13A_ENST00000357409.5_Missense_Mutation_p.K154E	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	154					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TCTTCAGGTGAAAATTTCCAG	0.254													ENSG00000197969																																					0													35.0	36.0	36.0					9																	79824413		2203	4290	6493	SO:0001583	missense	0			-	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.460A>G	9.37:g.79824413A>G	ENSP00000353422:p.Lys154Glu		Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	pfam_VPSAP_dom,pfam_Autophagy-rel_C	p.K154E	ENST00000360280.3	37	c.460	CCDS6655.1	9	.	.	.	.	.	.	.	.	.	.	A	14.83	2.652532	0.47362	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.47177	1.02;0.85;0.93;1.01	5.71	4.56	0.56223	.	0.114168	0.64402	D	0.000020	T	0.52821	0.1758	M	0.68728	2.09	0.80722	D	1	B;P;P;P	0.50369	0.112;0.749;0.934;0.934	B;B;P;P	0.51170	0.093;0.257;0.661;0.661	T	0.50268	-0.8848	10	0.13108	T	0.6	.	12.4256	0.55544	0.8545:0.1455:0.0:0.0	.	154;154;154;154	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	E	154	ENSP00000365821:K154E;ENSP00000365823:K154E;ENSP00000353422:K154E;ENSP00000349985:K154E	ENSP00000349985:K154E	K	+	1	0	VPS13A	79014233	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.552000	0.60747	0.977000	0.38444	0.533000	0.62120	AAA	-	VPS13A	-	NULL		0.254	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13A	HGNC	protein_coding	OTTHUMT00000052753.2	0	0	0	86	86	91	0.00	0.00	A	NM_015186		79824413	+1	9	8	59	102	tier1	no_errors	ENST00000360280	ensembl	human	known	74_37	missense	13.24	7.27	SNP	1.000	G	9	59
FBXO48	554251	genome.wustl.edu	37	2	68691360	68691360	+	Missense_Mutation	SNP	T	T	A			TCGA-IW-A3M4-01A-11D-A21Q-09	TCGA-IW-A3M4-10B-01D-A21Q-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6aa00162-6294-4ce7-b6b7-0c3452e24cd6	8475f0ef-158e-493e-82b5-44e895dfc0a7	g.chr2:68691360T>A	ENST00000377957.3	-	4	856	c.449A>T	c.(448-450)gAa>gTa	p.E150V		NM_001024680.1	NP_001019851.1	Q5FWF7	FBX48_HUMAN	F-box protein 48	150										endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						CAGTTCTGCTTCTAGAATTTC	0.373													ENSG00000204923																																					0													221.0	217.0	218.0					2																	68691360		2203	4300	6503	SO:0001583	missense	0			-	BC089423	CCDS33213.1	2p13.3	2011-03-09			ENSG00000204923	ENSG00000204923		"""F-boxes /  ""other"""""	33857	protein-coding gene	gene with protein product							Standard	XM_005264407		Approved		uc002seo.3	Q5FWF7	OTTHUMG00000152585	ENST00000377957.3:c.449A>T	2.37:g.68691360T>A	ENSP00000367193:p.Glu150Val			Missense_Mutation	SNP	pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom	p.E150V	ENST00000377957.3	37	c.449	CCDS33213.1	2	.	.	.	.	.	.	.	.	.	.	T	21.5	4.165479	0.78339	.	.	ENSG00000204923	ENST00000377957	T	0.45276	0.9	5.67	4.47	0.54385	.	0.353602	0.29948	N	0.010783	T	0.39655	0.1086	L	0.53249	1.67	0.35104	D	0.765548	P	0.46277	0.875	B	0.41440	0.357	T	0.59736	-0.7398	10	0.87932	D	0	-6.5412	11.7287	0.51724	0.0:0.0:0.1466:0.8534	.	150	Q5FWF7	FBX48_HUMAN	V	150	ENSP00000367193:E150V	ENSP00000367193:E150V	E	-	2	0	FBXO48	68544864	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.742000	0.62103	2.164000	0.68074	0.533000	0.62120	GAA	-	FBXO48	-	NULL		0.373	FBXO48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO48	HGNC	protein_coding	OTTHUMT00000326900.2	0	0	0	85	85	98	0.00	0.00	T	NM_001024680		68691360	-1	7	9	80	122	tier1	no_errors	ENST00000377957	ensembl	human	known	74_37	missense	8.05	6.87	SNP	1.000	A	7	80
KRT80	144501	genome.wustl.edu	37	12	52566026	52566026	+	Silent	SNP	G	G	T			TCGA-IW-A3M4-01A-11D-A21Q-09	TCGA-IW-A3M4-10B-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6aa00162-6294-4ce7-b6b7-0c3452e24cd6	8475f0ef-158e-493e-82b5-44e895dfc0a7	g.chr12:52566026G>T	ENST00000394815.2	-	7	1231	c.1134C>A	c.(1132-1134)atC>atA	p.I378I	KRT80_ENST00000313234.5_Silent_p.I378I	NM_182507.2	NP_872313.2	Q6KB66	K2C80_HUMAN	keratin 80	378	Coil 2.|Rod.					cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(2)|large_intestine(2)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.108)		TGGCGATCTCGATGTCCAGGG	0.672													ENSG00000167767																									GBM(178;2309 2916 15678 35873)												0													94.0	84.0	87.0					12																	52566026		2203	4299	6502	SO:0001819	synonymous_variant	0			-	BX537567	CCDS8821.2, CCDS41784.1	12q13.13	2013-01-16			ENSG00000167767	ENSG00000167767		"""-"", ""Intermediate filaments type II, keratins (basic)"""	27056	protein-coding gene	gene with protein product		611161				16831889	Standard	NM_001081492		Approved	KB20	uc001rzx.3	Q6KB66	OTTHUMG00000150193	ENST00000394815.2:c.1134C>A	12.37:g.52566026G>T			Q6P1A5|Q7Z3Q0	Silent	SNP	pfam_IF,prints_Keratin_II,prints_Keratin_I	p.I378	ENST00000394815.2	37	c.1134	CCDS8821.2	12																																																																																			-	KRT80	-	pfam_IF		0.672	KRT80-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KRT80	HGNC	protein_coding	OTTHUMT00000316757.1	0	0	0	125	125	7	0.00	0.00	G	NM_182507		52566026	-1	56	1	89	4	tier1	no_errors	ENST00000394815	ensembl	human	known	74_37	silent	38.62	20.00	SNP	0.801	T	56	89
SCN11A	11280	genome.wustl.edu	37	3	38948847	38948854	+	Intron	DEL	ATACACAC	ATACACAC	-	rs376599495|rs74884713|rs200271739|rs75317406|rs370348256|rs75658739|rs377500548		TCGA-IW-A3M4-01A-11D-A21Q-09	TCGA-IW-A3M4-10B-01D-A21Q-09	ATACACAC	ATACACAC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6aa00162-6294-4ce7-b6b7-0c3452e24cd6	8475f0ef-158e-493e-82b5-44e895dfc0a7	g.chr3:38948847_38948854delATACACAC	ENST00000302328.3	-	10	1672				SCN11A_ENST00000444237.2_Intron|SCN11A_ENST00000456224.3_Intron|SCN11A_ENST00000450244.1_Intron|AC116038.1_ENST00000401122.1_RNA	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit						cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ATATCTATATATacacacacacacacac	0.385													ENSG00000215941																																					0																																										SO:0001627	intron_variant	0				AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.1473+585GTGTGTAT>-	3.37:g.38948847_38948854delATACACAC			A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	R	DEL	-	NULL	ENST00000302328.3	37	NULL	CCDS33737.1	3																																																																																				AC116038.1	-	-		0.385	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000215941	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000109746.4	0	0	0	0	0	0	0.00	0.00	ATACACAC	NM_014139		38948854	+1	0	0	0	0	tier1	no_errors	ENST00000401122	ensembl	human	novel	74_37	rna	0.00	0.00	DEL	0.001:0.000:0.000:0.000:0.000:0.000:0.000:0.000	-	0	0
FAM230C	26080	genome.wustl.edu	37	22	21663321	21663322	+	lincRNA	INS	-	-	AGCGA			TCGA-IW-A3M4-01A-11D-A21Q-09	TCGA-IW-A3M4-10B-01D-A21Q-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6aa00162-6294-4ce7-b6b7-0c3452e24cd6	8475f0ef-158e-493e-82b5-44e895dfc0a7	g.chr22:21663321_21663322insAGCGA	ENST00000436681.1	-	0	848_849																											GGCGTCCTCTTTGGCGATGCCC	0.743													ENSG00000206142																																					0																																												0																																22.37:g.21663321_21663322insAGCGA				R	INS	-	NULL	ENST00000436681.1	37	NULL		22																																																																																				KB-1183D5.13	-	-		0.743	KB-1183D5.13-003	KNOWN	basic	lincRNA	FAM230C	Clone_based_vega_gene	lincRNA	OTTHUMT00000320109.1	0	0	0	4	4	4	0.00	0.00	-			21663322	-1	0	0	1	1	tier1	no_errors	ENST00000436681	ensembl	human	known	74_37	rna	0.00	0.00	INS	0.000:0.000	AGCGA	0	1
MAD1L1	8379	genome.wustl.edu	37	7	1888754	1888759	+	Intron	DEL	ACACAG	ACACAG	-	rs77129827		TCGA-IW-A3M4-01A-11D-A21Q-09	TCGA-IW-A3M4-10B-01D-A21Q-09	ACACAG	ACACAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6aa00162-6294-4ce7-b6b7-0c3452e24cd6	8475f0ef-158e-493e-82b5-44e895dfc0a7	g.chr7:1888754_1888759delACACAG	ENST00000406869.1	-	19	2556				AC110781.3_ENST00000402221.1_3'UTR|MAD1L1_ENST00000399654.2_Intron|MAD1L1_ENST00000402746.1_Intron|AC110781.3_ENST00000480694.1_3'UTR|AC110781.3_ENST00000318959.3_3'UTR|MAD1L1_ENST00000265854.7_Intron			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)						mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|regulation of metaphase plate congression (GO:0090235)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|spindle (GO:0005819)				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		acacgtgcacacacagacatgcacac	0.539													ENSG00000176349																																					0																																										SO:0001627	intron_variant	0				U33822	CCDS43539.1	7p22	2013-01-17	2001-11-28		ENSG00000002822	ENSG00000002822			6762	protein-coding gene	gene with protein product		602686	"""MAD1 (mitotic arrest deficient, yeast, homolog)-like 1"""			10049595, 9546394	Standard	XM_005249876		Approved	HsMAD1, TXBP181, MAD1, PIG9, TP53I9	uc003slg.1	Q9Y6D9	OTTHUMG00000151493	ENST00000406869.1:c.1999-32890CTGTGT>-	7.37:g.1888754_1888759delACACAG			B3KR41|Q13312|Q75MI0|Q86UM4|Q9UNH0	R	DEL	-	NULL	ENST00000406869.1	37	NULL	CCDS43539.1	7																																																																																				AC110781.3	-	-		0.539	MAD1L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LOC100128374	Clone_based_vega_gene	protein_coding	OTTHUMT00000322871.1	0	0	0	0	0	0	0.00	0.00	ACACAG	NM_003550		1888759	+1	0	0	0	0	tier1	no_errors	ENST00000480694	ensembl	human	known	74_37	rna	0.00	0.00	DEL	0.003:0.000:0.000:0.000:0.000:0.000	-	0	0
PPM1B	5495	genome.wustl.edu	37	2	44396279	44396280	+	5'UTR	INS	-	-	CGGAGGCGG	rs75626638|rs149901018	byFrequency	TCGA-IW-A3M4-01A-11D-A21Q-09	TCGA-IW-A3M4-10B-01D-A21Q-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6aa00162-6294-4ce7-b6b7-0c3452e24cd6	8475f0ef-158e-493e-82b5-44e895dfc0a7	g.chr2:44396279_44396280insCGGAGGCGG	ENST00000282412.4	+	0	264_265				PPM1B_ENST00000345249.4_5'UTR|PPM1B_ENST00000409432.3_5'UTR|PPM1B_ENST00000378551.2_5'UTR|PPM1B_ENST00000409895.4_5'UTR|RP11-559M23.1_ENST00000609837.1_RNA|PPM1B_ENST00000378540.4_3'UTR	NM_002706.4	NP_002697.1	O75688	PPM1B_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1B						cytokine-mediated signaling pathway (GO:0019221)|N-terminal protein myristoylation (GO:0006499)|negative regulation of defense response to virus (GO:0050687)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)	cytosol (GO:0005829)|membrane (GO:0016020)	magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)			kidney(4)|large_intestine(3)|lung(7)|skin(2)	16		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				gtaaacagccccggaggcggcg	0.748													ENSG00000138032		4049	0.808506	0.7648	0.8285	5008	,	,		8039	0.7202		0.8648	False		,,,				2504	0.8865																0																																										SO:0001623	5_prime_UTR_variant	0				AJ005801	CCDS1816.1, CCDS1817.1, CCDS1818.1, CCDS46271.1	2p22.1	2012-04-17	2010-03-05		ENSG00000138032	ENSG00000138032	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9276	protein-coding gene	gene with protein product	"""protein phosphatase 2C, beta isoform"""	603770	"""protein phosphatase 1B (formerly 2C), magnesium-dependent, beta isoform"""			9684878	Standard	NM_002706		Approved	PPC2BETAX, PP2CB, PP2CBETA	uc002rtt.3	O75688	OTTHUMG00000128757	ENST00000282412.4:c.-148->CGGAGGCGG	2.37:g.44396280_44396288dupCGGAGGCGG			Q461Q2|Q4J6C1|Q4J6C2|Q658R4|Q96ER6|Q9HAY8	R	INS	-	NULL	ENST00000282412.4	37	NULL	CCDS1817.1	2																																																																																				PPM1B	-	-		0.748	PPM1B-001	KNOWN	basic|CCDS	protein_coding	PPM1B	HGNC	protein_coding	OTTHUMT00000250672.1	0	0	0	0	0	0	0.00	0.00	-	NM_002706		44396280	+1	0	0	2	2	tier1	no_errors	ENST00000378540	ensembl	human	known	74_37	rna	0.00	0.00	INS	1.000:0.999	CGGAGGCGG	0	2
RPH3AL	9501	genome.wustl.edu	37	17	185813	185874	+	Intron	DEL	AGGGCGACAGGGAGGAGATGGGGTTTAGAGGAGGGAAAAGAAGCTGGGACAAACATAAAAGA	AGGGCGACAGGGAGGAGATGGGGTTTAGAGGAGGGAAAAGAAGCTGGGACAAACATAAAAGA	-	rs566487891|rs533978966|rs548476082|rs536518736|rs74729380|rs56316749|rs558760274	byFrequency	TCGA-IW-A3M4-01A-11D-A21Q-09	TCGA-IW-A3M4-10B-01D-A21Q-09	AGGGCGACAGGGAGGAGATGGGGTTTAGAGGAGGGAAAAGAAGCTGGGACAAACATAAAAGA	AGGGCGACAGGGAGGAGATGGGGTTTAGAGGAGGGAAAAGAAGCTGGGACAAACATAAAAGA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6aa00162-6294-4ce7-b6b7-0c3452e24cd6	8475f0ef-158e-493e-82b5-44e895dfc0a7	g.chr17:185813_185874delAGGGCGACAGGGAGGAGATGGGGTTTAGAGGAGGGAAAAGAAGCTGGGACAAACATAAAAGA	ENST00000331302.7	-	2	96				RP11-1260E13.4_ENST00000573601.1_RNA|RPH3AL_ENST00000536489.2_Intron|RPH3AL_ENST00000323434.8_Intron|RP11-1260E13.4_ENST00000570711.1_RNA	NM_001190411.1|NM_006987.3	NP_001177340.1|NP_008918.1	Q9UNE2	RPH3L_HUMAN	rabphilin 3A-like (without C2 domains)						exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|intracellular protein transport (GO:0006886)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|positive regulation of protein secretion (GO:0050714)|regulation of calcium ion-dependent exocytosis (GO:0017158)|response to drug (GO:0042493)	cytoplasm (GO:0005737)|secretory granule membrane (GO:0030667)	cytoskeletal protein binding (GO:0008092)|metal ion binding (GO:0046872)			NS(2)|breast(1)|kidney(1)|large_intestine(1)|skin(1)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.023)|all cancers(1;4.96e-06)|Epithelial(1;2.86e-05)|BRCA - Breast invasive adenocarcinoma(1;0.00453)|OV - Ovarian serous cystadenocarcinoma(1;0.0716)|LUAD - Lung adenocarcinoma(1115;0.102)|COAD - Colon adenocarcinoma(4;0.107)		TGCCTAGGCCAGGGCGACAGGGAGGAGATGGGGTTTAGAGGAGGGAAAAGAAGCTGGGACAAACATAAAAGAATACTTGCCA	0.573													ENSG00000181031																																					0																																										SO:0001627	intron_variant	0					CCDS10994.1, CCDS54059.1	17p13.3	2014-07-02			ENSG00000181031	ENSG00000181031		"""Synaptotagmins"""	10296	protein-coding gene	gene with protein product		604881				10395805	Standard	NM_006987		Approved	Noc2	uc021tmx.1	Q9UNE2	OTTHUMG00000090273	ENST00000331302.7:c.212-2088TCTTTTATGTTTGTCCCAGCTTCTTTTCCCTCCTCTAAACCCCATCTCCTCCCTGTCGCCCT>-	17.37:g.185813_185874delAGGGCGACAGGGAGGAGATGGGGTTTAGAGGAGGGAAAAGAAGCTGGGACAAACATAAAAGA			D3DTG7|Q9BSB3	R	DEL	-	NULL	ENST00000331302.7	37	NULL	CCDS10994.1	17																																																																																				RPH3AL	-	-		0.573	RPH3AL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPH3AL	HGNC	protein_coding	OTTHUMT00000206597.2	0	0	0	1	1	1	0.00	0.00	AGGGCGACAGGGAGGAGATGGGGTTTAGAGGAGGGAAAAGAAGCTGGGACAAACATAAAAGA	NM_006987		185874	-1	0	0	1	1	tier1	no_errors	ENST00000574011	ensembl	human	putative	74_37	rna	0.00	0.00	DEL	0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.001:0.001:0.001:0.000:0.000:0.000:0.001:0.001:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.001:0.000:0.005:0.007:0.006:0.001:0.000:0.000:0.000:0.000:0.001:0.001:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.008:0.009:0.053	-	0	1
ANKRD17	26057	genome.wustl.edu	37	4	74012985	74012985	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IW-A3M4-01A-11D-A21Q-09	TCGA-IW-A3M4-10B-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6aa00162-6294-4ce7-b6b7-0c3452e24cd6	8475f0ef-158e-493e-82b5-44e895dfc0a7	g.chr4:74012985C>A	ENST00000358602.4	-	9	1848	c.1732G>T	c.(1732-1734)Gag>Tag	p.E578*	ANKRD17_ENST00000330838.6_Nonsense_Mutation_p.E578*|ANKRD17_ENST00000509867.2_Nonsense_Mutation_p.E465*|ANKRD17_ENST00000514252.1_Intron	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	578					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTAACTAACTCCAAATGACCC	0.368													ENSG00000132466																																					0													84.0	88.0	87.0					4																	74012985		2203	4300	6503	SO:0001587	stop_gained	0			-	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.1732G>T	4.37:g.74012985C>A	ENSP00000351416:p.Glu578*		E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt	p.E578*	ENST00000358602.4	37	c.1732	CCDS34004.1	4	.	.	.	.	.	.	.	.	.	.	C	40	8.510292	0.98843	.	.	ENSG00000132466	ENST00000358602;ENST00000426990;ENST00000330838;ENST00000509867;ENST00000411811	.	.	.	5.51	5.51	0.81932	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.7866	0.96442	0.0:1.0:0.0:0.0	.	.	.	.	X	578;578;578;465;578	.	ENSP00000332265:E578X	E	-	1	0	ANKRD17	74231849	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.629000	0.83207	2.756000	0.94617	0.655000	0.94253	GAG	-	ANKRD17	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.368	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD17	HGNC	protein_coding	OTTHUMT00000362475.1	0	0	0	48	48	136	0.00	0.00	C	NM_032217		74012985	-1	5	2	40	118	tier1	no_errors	ENST00000358602	ensembl	human	known	74_37	nonsense	11.11	1.67	SNP	1.000	A	5	40
LOC101928327	101928327	genome.wustl.edu	37	2	217735201	217735202	+	5'Flank	INS	-	-	A	rs574922656|rs12995765|rs200965461|rs59237513	byFrequency	TCGA-IW-A3M4-01A-11D-A21Q-09	TCGA-IW-A3M4-10B-01D-A21Q-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6aa00162-6294-4ce7-b6b7-0c3452e24cd6	8475f0ef-158e-493e-82b5-44e895dfc0a7	g.chr2:217735201_217735202insA	ENST00000456163.1	+	0	0				AC007563.5_ENST00000607591.1_RNA|AC007557.2_ENST00000421907.1_RNA|AC007563.1_ENST00000418591.1_RNA|AC007557.3_ENST00000451711.1_lincRNA|AC007563.5_ENST00000447289.1_RNA																							GGTTATTCTTTAAAAAAAAAAA	0.332													ENSG00000236295																																					0																																										SO:0001631	upstream_gene_variant	0																																2.37:g.217735212_217735212dupA	Exception_encountered			R	INS	-	NULL	ENST00000456163.1	37	NULL		2																																																																																				AC007563.1	-	-		0.332	AC007557.1-001	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	ENSG00000236295	Clone_based_vega_gene	protein_coding	OTTHUMT00000339424.1	0	0	0	9	9	37	0.00	0.00	-			217735202	-1	4	3	16	30	tier1	no_errors	ENST00000418591	ensembl	human	known	74_37	rna	20.00	9.09	INS	0.002:0.002	A	4	16
