#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_CAF	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_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_type	i_havana_transcript	i_normal_ref_reads	i_normal_ref_reads_val	i_normal_vaf	i_normal_vaf_val	i_normal_var_reads	i_normal_var_reads_val	i_reference	i_refseq_mrna_id	i_rsID	i_rsID_ref_var_alleles	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_tumor_ref_reads	i_tumor_ref_reads_val	i_tumor_vaf	i_tumor_vaf_val	i_tumor_var_reads	i_tumor_var_reads_val	i_type	i_ucsc_cons	i_variant
OCRL	4952	genome.wustl.edu	37	X	128692701	128692701	+	Silent	SNP	C	C	A			TCGA-YT-A95D-01A-11D-A428-09	TCGA-YT-A95D-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ec079557-d895-462c-afd9-44f85c99ee79	39a3be9a-abae-47c2-9880-fe2aa424c66c	g.chrX:128692701C>A	ENST00000371113.4	+	7	696	c.531C>A	c.(529-531)ccC>ccA	p.P177P	OCRL_ENST00000486673.1_3'UTR|OCRL_ENST00000357121.5_Silent_p.P177P	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	177					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						ATCGGGAACCCCCACCTCCAC	0.353																																							0											0													61.0	58.0	59.0					X																	128692701		2203	4300	6503	SO:0001819	synonymous_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.531C>A	X.37:g.128692701C>A			A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Silent	SNP	pfam_Endo/exonuclease/phosphatase,pfam_RhoGAP_dom,superfamily_Endo/exonuclease/phosphatase,superfamily_Rho_GTPase_activation_prot,smart_IPPc,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.P177	ENST00000371113.4	37	c.531	CCDS35393.1	X																																																																																			0	NULL		0.353	OCRL-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	OCRL	protein_coding	OTTHUMT00000058917.1	152	284	0	0.35	0	1	C	NM_000276	0	0		128692701	1	no_errors	ENST00000371113	ensembl	human	known	74_37	silent	105	187	43.24	29.70	80	79	SNP	0.486	A
FAM3A	60343	genome.wustl.edu	37	X	153741210	153741210	+	Missense_Mutation	SNP	C	C	T			TCGA-YT-A95D-01A-11D-A428-09	TCGA-YT-A95D-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ec079557-d895-462c-afd9-44f85c99ee79	39a3be9a-abae-47c2-9880-fe2aa424c66c	g.chrX:153741210C>T	ENST00000447601.2	-	2	530	c.64G>A	c.(64-66)Gtg>Atg	p.V22M	FAM3A_ENST00000393572.1_Intron|FAM3A_ENST00000369641.3_Missense_Mutation_p.V22M|FAM3A_ENST00000434658.2_Missense_Mutation_p.V22M|FAM3A_ENST00000359889.5_Missense_Mutation_p.V22M|FAM3A_ENST00000369643.1_Missense_Mutation_p.V22M|FAM3A_ENST00000492763.1_5'UTR	NM_021806.2	NP_068578.2	P98173	FAM3A_HUMAN	family with sequence similarity 3, member A	22						extracellular region (GO:0005576)				kidney(2)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ATGCTGACCACGATCCATGTG	0.602																																							0											0													155.0	114.0	128.0					X																	153741210		2203	4300	6503	SO:0001583	missense	0			X74610	CCDS35453.1, CCDS55542.1, CCDS55543.1, CCDS76060.1	Xq28	2008-07-29			ENSG00000071889	ENSG00000071889			13749	protein-coding gene	gene with protein product		300492				8733135, 8281148	Standard	NM_021806		Approved	DXS560S, 2-19, XAP-7	uc004fls.2	P98173	OTTHUMG00000013418	ENST00000447601.2:c.64G>A	X.37:g.153741210C>T	ENSP00000416146:p.Val22Met		A6QRH6|B2RBI7|B4DFI8|D3DWX4|Q5HY76|Q96H51	Missense_Mutation	SNP	NULL	p.V22M	ENST00000447601.2	37	c.64	CCDS35453.1	X	.	.	.	.	.	.	.	.	.	.	C	4.701	0.130404	0.08981	.	.	ENSG00000071889	ENST00000434658;ENST00000359889;ENST00000369643;ENST00000447601;ENST00000369641;ENST00000426266	T;T;T;T;T;T	0.24538	1.85;1.85;1.85;1.85;1.85;1.85	4.61	-9.22	0.00675	.	0.757240	0.11851	N	0.523307	T	0.14141	0.0342	L	0.43152	1.355	0.09310	N	1	B;B	0.11235	0.004;0.004	B;B	0.08055	0.003;0.003	T	0.18587	-1.0332	10	0.66056	D	0.02	.	3.6557	0.08220	0.1348:0.1016:0.2856:0.478	.	22;22	B4DFI8;P98173	.;FAM3A_HUMAN	M	22	ENSP00000396243:V22M;ENSP00000352955:V22M;ENSP00000358657:V22M;ENSP00000416146:V22M;ENSP00000358655:V22M;ENSP00000396845:V22M	ENSP00000320521:V22M	V	-	1	0	FAM3A	153394404	0.000000	0.05858	0.000000	0.03702	0.288000	0.27193	-2.875000	0.00718	-2.316000	0.00645	-0.743000	0.03520	GTG	0	NULL		0.602	FAM3A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM3A	protein_coding	OTTHUMT00000037362.2	38	82	0	0.00	0	0	C		0	0		153741210	-1	no_errors	ENST00000359889	ensembl	human	known	74_37	missense	39	84	27.78	36.84	15	49	SNP	0	T
NEB	4703	genome.wustl.edu	37	2	152497131	152497131	+	Missense_Mutation	SNP	G	G	A			TCGA-YT-A95D-01A-11D-A428-09	TCGA-YT-A95D-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ec079557-d895-462c-afd9-44f85c99ee79	39a3be9a-abae-47c2-9880-fe2aa424c66c	g.chr2:152497131G>A	ENST00000172853.10	-	61	8570	c.8423C>T	c.(8422-8424)gCc>gTc	p.A2808V	NEB_ENST00000604864.1_Missense_Mutation_p.A2808V|NEB_ENST00000397345.3_Missense_Mutation_p.A2808V|NEB_ENST00000603639.1_Missense_Mutation_p.A2808V|NEB_ENST00000409198.1_Missense_Mutation_p.A2808V|NEB_ENST00000427231.2_Missense_Mutation_p.A2808V			P20929	NEBU_HUMAN	nebulin	2808					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TATAGCTCGGGCACCAATGTG	0.448																																							0											0													156.0	149.0	151.0					2																	152497131		1899	4117	6016	SO:0001583	missense	0			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.8423C>T	2.37:g.152497131G>A	ENSP00000172853:p.Ala2808Val		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.A2808V	ENST00000172853.10	37	c.8423		2	.	.	.	.	.	.	.	.	.	.	G	21.0	4.078711	0.76528	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.09255	3.26;3.27;3.27;3.0	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.15046	0.0363	L	0.37630	1.12	0.80722	D	1	P	0.47545	0.897	P	0.50082	0.63	T	0.05937	-1.0855	10	0.15952	T	0.53	.	16.0651	0.80865	0.0:0.1332:0.8668:0.0	.	2808	P20929	NEBU_HUMAN	V	2808	ENSP00000386259:A2808V;ENSP00000380505:A2808V;ENSP00000416578:A2808V;ENSP00000172853:A2808V	ENSP00000172853:A2808V	A	-	2	0	NEB	152205377	0.098000	0.21812	0.972000	0.41901	0.971000	0.66376	1.462000	0.35266	2.885000	0.99019	0.655000	0.94253	GCC	0	smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif		0.448	NEB-201	KNOWN	basic	protein_coding	NEB	protein_coding		48	41	0	0.00	0	0	G	NM_004543	0	0		152497131	-1	no_errors	ENST00000397345	ensembl	human	known	74_37	missense	39	15	33.9	37.50	20	9	SNP	1	A
TTN	7273	genome.wustl.edu	37	2	179515498	179515498	+	Missense_Mutation	SNP	G	G	T	rs148140756	byFrequency	TCGA-YT-A95D-01A-11D-A428-09	TCGA-YT-A95D-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ec079557-d895-462c-afd9-44f85c99ee79	39a3be9a-abae-47c2-9880-fe2aa424c66c	g.chr2:179515498G>T	ENST00000591111.1	-	164	35392	c.35168C>A	c.(35167-35169)gCg>gAg	p.A11723E	TTN_ENST00000589042.1_Missense_Mutation_p.A13230E|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A10796E|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron			Q8WZ42	TITIN_HUMAN	titin	11723	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGGAGACTCCGCTCTTTCTGG	0.418																																							0											0													49.0	54.0	53.0					2																	179515498		1897	4096	5993	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.35168C>A	2.37:g.179515498G>T	ENSP00000465570:p.Ala11723Glu		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.A10796E	ENST00000591111.1	37	c.32387		2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.555|3.555	-0.090815|-0.090815	0.07053|0.07053	.|.	.|.	ENSG00000155657|ENSG00000155657	ENST00000342992;ENST00000429997;ENST00000446966;ENST00000434777|ENST00000426232	T;T|.	0.65364|.	-0.15;-0.15|.	4.91|4.91	-3.33|-3.33	0.04958|0.04958	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);|.	.|.	.|.	.|.	.|.	T|T	0.22936|0.22936	0.0554|0.0554	N|N	0.12182|0.12182	0.205|0.205	0.28387|0.28387	N|N	0.919289|0.919289	B|.	0.21821|.	0.061|.	B|.	0.26310|.	0.068|.	T|T	0.33828|0.33828	-0.9853|-0.9853	9|5	0.87932|.	D|.	0|.	.|.	10.3989|10.3989	0.44218|0.44218	0.2399:0.0:0.6318:0.1283|0.2399:0.0:0.6318:0.1283	.|.	11723|.	Q8WZ42|.	TITIN_HUMAN|.	E|R	10796;69;69;23|70	ENSP00000343764:A10796E;ENSP00000408004:A69E|.	ENSP00000343764:A10796E|.	A|S	-|-	2|3	0|2	TTN|TTN	179223743|179223743	0.005000|0.005000	0.15991|0.15991	0.009000|0.009000	0.14445|0.14445	0.058000|0.058000	0.15608|0.15608	0.160000|0.160000	0.16462|0.16462	-0.523000|-0.523000	0.06409|0.06409	-0.238000|-0.238000	0.12139|0.12139	GCG|AGC	0	pfam_PPAK_motif,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom		0.418	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	102	178	0	0.56	0	1	G	NM_133378	0	0		179515498	-1	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	71	132	45.8	28.65	60	53	SNP	0.054	T
LRFN2	57497	genome.wustl.edu	37	6	40400316	40400316	+	Missense_Mutation	SNP	G	G	C			TCGA-YT-A95D-01A-11D-A428-09	TCGA-YT-A95D-10A-01D-A42B-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ec079557-d895-462c-afd9-44f85c99ee79	39a3be9a-abae-47c2-9880-fe2aa424c66c	g.chr6:40400316G>C	ENST00000338305.6	-	2	1079	c.537C>G	c.(535-537)agC>agG	p.S179R		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	179						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					TGTGGTCCAGGCTCAGCTGGT	0.602																																							0											0													96.0	96.0	96.0					6																	40400316		2203	4300	6503	SO:0001583	missense	0			AB033072	CCDS34443.1	6p21.2-p21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000156564	ENSG00000156564		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	21226	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 2"""	612808	"""KIAA1246"""	KIAA1246, SALM1		16495444, 16828986	Standard	NM_020737		Approved	FIGLER2	uc003oph.1	Q9ULH4	OTTHUMG00000014662	ENST00000338305.6:c.537C>G	6.37:g.40400316G>C	ENSP00000345985:p.Ser179Arg		A5PKU3|Q5SYP9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.S179R	ENST00000338305.6	37	c.537	CCDS34443.1	6	.	.	.	.	.	.	.	.	.	.	G	16.16	3.044228	0.55110	.	.	ENSG00000156564	ENST00000338305	T	0.58358	0.34	5.76	1.41	0.22369	.	0.000000	0.85682	D	0.000000	T	0.34861	0.0912	N	0.26162	0.8	0.58432	D	0.999997	P	0.41947	0.766	P	0.52031	0.688	T	0.24977	-1.0145	10	0.54805	T	0.06	.	9.6968	0.40163	0.4009:0.0:0.5991:0.0	.	179	Q9ULH4	LRFN2_HUMAN	R	179	ENSP00000345985:S179R	ENSP00000345985:S179R	S	-	3	2	LRFN2	40508294	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.579000	0.36536	0.353000	0.24079	0.655000	0.94253	AGC	0	smart_Leu-rich_rpt_typical-subtyp		0.602	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRFN2	protein_coding	OTTHUMT00000040488.1	23	85	0	0.00	0	0	G	XM_166372	0	0		40400316	-1	no_errors	ENST00000338305	ensembl	human	known	74_37	missense	19	77	26.92	28.70	7	31	SNP	1	C
GTF2I	2969	genome.wustl.edu	37	7	74146970	74146970	+	Missense_Mutation	SNP	T	T	A			TCGA-YT-A95D-01A-11D-A428-09	TCGA-YT-A95D-10A-01D-A42B-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ec079557-d895-462c-afd9-44f85c99ee79	39a3be9a-abae-47c2-9880-fe2aa424c66c	g.chr7:74146970T>A	ENST00000324896.4	+	15	1660	c.1271T>A	c.(1270-1272)cTt>cAt	p.L424H	GTF2I_ENST00000353920.4_Missense_Mutation_p.L404H|GTF2I_ENST00000346152.4_Missense_Mutation_p.L403H|GTF2I_ENST00000416070.1_Missense_Mutation_p.L383H	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	424					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						AGGATATTACTTGCAAAGGAA	0.378																																							0											0													13.0	13.0	13.0					7																	74146970		1741	3768	5509	SO:0001583	missense	0			U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"""General transcription factors"""	4659	protein-coding gene	gene with protein product		601679	"""general transcription factor II, i"""	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.1271T>A	7.37:g.74146970T>A	ENSP00000322542:p.Leu424His		O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Missense_Mutation	SNP	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I	p.L424H	ENST00000324896.4	37	c.1271	CCDS5573.1	7	.	.	.	.	.	.	.	.	.	.	T	18.18	3.565904	0.65651	.	.	ENSG00000077809	ENST00000324896;ENST00000539339;ENST00000353920;ENST00000346152;ENST00000416070	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	4.72	4.72	0.59763	.	0.110120	0.39544	N	0.001322	T	0.37019	0.0988	N	0.14661	0.345	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;0.999	D;D;P;D;D	0.74348	0.983;0.979;0.874;0.971;0.963	T	0.36089	-0.9762	10	0.56958	D	0.05	-16.5588	13.3771	0.60745	0.0:0.0:0.0:1.0	.	402;383;404;403;424	Q499G6;P78347-2;P78347-3;P78347-4;P78347	.;.;.;.;GTF2I_HUMAN	H	424;419;404;403;383	ENSP00000322542:L424H;ENSP00000322671:L404H;ENSP00000322599:L403H;ENSP00000387651:L383H	ENSP00000322542:L424H	L	+	2	0	GTF2I	73784906	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.342000	0.65970	1.753000	0.51906	0.477000	0.44152	CTT	0	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I		0.378	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GTF2I	protein_coding	OTTHUMT00000252708.1	337	100	0	0.00	0	0	T	NM_032999	0	0		74146970	1	no_errors	ENST00000324896	ensembl	human	known	74_37	missense	265	86	34.89	42.67	142	64	SNP	1	A
PLAG1	5324	genome.wustl.edu	37	8	57079034	57079034	+	Missense_Mutation	SNP	A	A	C			TCGA-YT-A95D-01A-11D-A428-09	TCGA-YT-A95D-10A-01D-A42B-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ec079557-d895-462c-afd9-44f85c99ee79	39a3be9a-abae-47c2-9880-fe2aa424c66c	g.chr8:57079034A>C	ENST00000316981.3	-	5	1750	c.1271T>G	c.(1270-1272)tTc>tGc	p.F424C	PLAG1_ENST00000429357.2_Missense_Mutation_p.F424C|PLAG1_ENST00000423799.2_Missense_Mutation_p.F342C	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1	424	Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Massively activates transcription.				gland morphogenesis (GO:0022612)|multicellular organism growth (GO:0035264)|negative regulation of gene expression (GO:0010629)|organ growth (GO:0035265)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			TAAAGGTATGAAATTAAACAA	0.458			T	"""TCEA1, LIFR, CTNNB1, CHCHD7"""	salivary adenoma																																		0		Dom	yes		8	8q12	5324	pleiomorphic adenoma gene 1		E	0													65.0	71.0	69.0					8																	57079034		2203	4300	6503	SO:0001583	missense	0			U65002	CCDS6165.1, CCDS47860.1	8q12	2010-07-30				ENSG00000181690		"""Zinc fingers, C2H2-type"""	9045	protein-coding gene	gene with protein product		603026				9268638	Standard	NM_002655		Approved	ZNF912	uc010lyi.3	Q6DJT9		ENST00000316981.3:c.1271T>G	8.37:g.57079034A>C	ENSP00000325546:p.Phe424Cys		B4DLC2|Q59GH8|Q9Y4L2	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.F424C	ENST00000316981.3	37	c.1271	CCDS6165.1	8	.	.	.	.	.	.	.	.	.	.	A	22.9	4.347239	0.82022	.	.	ENSG00000181690	ENST00000316981;ENST00000423799;ENST00000429357	T;T;T	0.39406	1.08;1.83;1.08	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.60196	0.2250	L	0.52573	1.65	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.62407	-0.6861	10	0.87932	D	0	-22.5619	16.3318	0.83023	1.0:0.0:0.0:0.0	.	424	Q6DJT9	PLAG1_HUMAN	C	424;342;424	ENSP00000325546:F424C;ENSP00000404067:F342C;ENSP00000416537:F424C	ENSP00000325546:F424C	F	-	2	0	PLAG1	57241588	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.962000	0.93254	2.248000	0.74166	0.460000	0.39030	TTC	0	NULL		0.458	PLAG1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PLAG1	protein_coding	OTTHUMT00000378212.1	67	216	0	0.00	0	0	A	NM_002655	0	0		57079034	-1	no_errors	ENST00000316981	ensembl	human	known	74_37	missense	62	132	31.87	40.27	29	89	SNP	1	C
GARNL3	84253	genome.wustl.edu	37	9	130149490	130149490	+	Missense_Mutation	SNP	G	G	A			TCGA-YT-A95D-01A-11D-A428-09	TCGA-YT-A95D-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ec079557-d895-462c-afd9-44f85c99ee79	39a3be9a-abae-47c2-9880-fe2aa424c66c	g.chr9:130149490G>A	ENST00000373387.4	+	25	2759	c.2407G>A	c.(2407-2409)Gca>Aca	p.A803T	GARNL3_ENST00000314904.5_Intron|GARNL3_ENST00000435213.2_Missense_Mutation_p.A781T|GARNL3_ENST00000496711.1_3'UTR	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	803					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)|small GTPase regulator activity (GO:0005083)			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						ATACTTCACAGCAACTGCAGC	0.552																																							0											0													111.0	112.0	112.0					9																	130149490		2203	4300	6503	SO:0001583	missense	0			BC034983	CCDS6869.2, CCDS69663.1	9q34.13	2009-09-14	2004-08-09		ENSG00000136895	ENSG00000136895			25425	protein-coding gene	gene with protein product			"""GTPase activating RANGAP domain-like 3"""			11230166	Standard	NM_032293		Approved	DKFZp761J1523, bA356B19.1	uc011mae.2	Q5VVW2	OTTHUMG00000020700	ENST00000373387.4:c.2407G>A	9.37:g.130149490G>A	ENSP00000362485:p.Ala803Thr		B4DEP7|B7Z3Q6|Q8IYU1|Q8N951|Q8ND89|Q9BQH6	Missense_Mutation	SNP	pfam_Citron,pfam_Rap_GAP_dom,smart_Citron,pfscan_Rap_GAP_dom	p.A803T	ENST00000373387.4	37	c.2407	CCDS6869.2	9	.	.	.	.	.	.	.	.	.	.	G	11.43	1.637695	0.29157	.	.	ENSG00000136895	ENST00000435213;ENST00000373387	D;D	0.86627	-2.15;-2.15	5.66	5.66	0.87406	.	0.055014	0.64402	D	0.000001	T	0.81754	0.4889	L	0.32530	0.975	0.80722	D	1	B;B	0.19706	0.038;0.005	B;B	0.12837	0.008;0.004	T	0.75682	-0.3233	9	.	.	.	.	18.3141	0.90213	0.0:0.0:1.0:0.0	.	803;781	Q5VVW2;B7Z3Q6	GARL3_HUMAN;.	T	781;803	ENSP00000396205:A781T;ENSP00000362485:A803T	.	A	+	1	0	GARNL3	129189311	1.000000	0.71417	0.981000	0.43875	0.634000	0.38068	5.976000	0.70484	2.648000	0.89879	0.655000	0.94253	GCA	0	smart_Citron		0.552	GARNL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	GARNL3	protein_coding	OTTHUMT00000054151.3	39	70	0	0.00	0	0	G	NM_032293	0	0		130149490	1	no_errors	ENST00000373387	ensembl	human	known	74_37	missense	39	85	18.37	13.27	9	13	SNP	1	A
GTPBP4	23560	genome.wustl.edu	37	10	1045028	1045028	+	Missense_Mutation	SNP	G	G	A	rs566484717		TCGA-YT-A95D-01A-11D-A428-09	TCGA-YT-A95D-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ec079557-d895-462c-afd9-44f85c99ee79	39a3be9a-abae-47c2-9880-fe2aa424c66c	g.chr10:1045028G>A	ENST00000360803.4	+	6	729	c.647G>A	c.(646-648)cGt>cAt	p.R216H	GTPBP4_ENST00000545048.1_Missense_Mutation_p.R169H|GTPBP4_ENST00000491635.1_3'UTR|GTPBP4_ENST00000538293.1_Missense_Mutation_p.R100H	NM_012341.2	NP_036473.2	Q9BZE4	NOG1_HUMAN	GTP binding protein 4	216	OBG-type G. {ECO:0000255|PROSITE- ProRule:PRU01047}.				GTP catabolic process (GO:0006184)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of collagen binding (GO:0033342)|negative regulation of DNA replication (GO:0008156)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein stabilization (GO:0050821)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|ribosome biogenesis (GO:0042254)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		AAGTATCTACGTTGGCAGGTG	0.443													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21385	0.0		0.0	False		,,,				2504	0.0						0											0													185.0	149.0	161.0					10																	1045028		2203	4300	6503	SO:0001583	missense	0			AK001548	CCDS31132.1	10p15-p14	2007-07-27			ENSG00000107937	ENSG00000107937			21535	protein-coding gene	gene with protein product	"""G protein-binding protein CRFG"", "" GTP-binding protein"""					11316846	Standard	NM_012341		Approved	CRFG, NGB, FLJ10690, FLJ10686, NOG1	uc001ift.3	Q9BZE4	OTTHUMG00000017538	ENST00000360803.4:c.647G>A	10.37:g.1045028G>A	ENSP00000354040:p.Arg216His		B3KMC5|B4DY13|B7Z7A3|O95446|Q5T3R8|Q9NVJ8	Missense_Mutation	SNP	pfam_NOG1_Rossman_fold_dom,pfam_NOG_C,pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,pfam_MIRO-like,superfamily_P-loop_NTPase,prints_GTP_binding_domain,tigrfam_Small_GTP-bd_dom	p.R216H	ENST00000360803.4	37	c.647	CCDS31132.1	10	.	.	.	.	.	.	.	.	.	.	G	33	5.242615	0.95272	.	.	ENSG00000107937	ENST00000360803;ENST00000538293;ENST00000545048	T;T;T	0.37752	1.18;1.21;1.19	5.58	5.58	0.84498	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.68439	0.3001	M	0.90595	3.13	0.80722	D	1	D	0.89917	1.0	D	0.68621	0.959	T	0.75258	-0.3381	10	0.87932	D	0	-13.5672	19.5786	0.95455	0.0:0.0:1.0:0.0	.	216	Q9BZE4	NOG1_HUMAN	H	216;100;169	ENSP00000354040:R216H;ENSP00000444277:R100H;ENSP00000445473:R169H	ENSP00000354040:R216H	R	+	2	0	GTPBP4	1035028	1.000000	0.71417	0.998000	0.56505	0.852000	0.48524	9.566000	0.98157	2.639000	0.89480	0.555000	0.69702	CGT	0	pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,pfam_MIRO-like,superfamily_P-loop_NTPase,tigrfam_Small_GTP-bd_dom		0.443	GTPBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTPBP4	protein_coding	OTTHUMT00000046412.1	101	191	0	0.00	0	0	G	NM_012341	rs566484717	G->A		1045028	1	no_errors	ENST00000360803	ensembl	human	known	74_37	missense	82	121	27.43	38.38	31	76	SNP	1	A
YARS2	51067	genome.wustl.edu	37	12	32908584	32908584	+	Silent	SNP	G	G	A	rs376399300		TCGA-YT-A95D-01A-11D-A428-09	TCGA-YT-A95D-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ec079557-d895-462c-afd9-44f85c99ee79	39a3be9a-abae-47c2-9880-fe2aa424c66c	g.chr12:32908584G>A	ENST00000324868.8	-	1	252	c.225C>T	c.(223-225)acC>acT	p.T75T		NM_001040436.2	NP_001035526.1	Q9Y2Z4	SYYM_HUMAN	tyrosyl-tRNA synthetase 2, mitochondrial	75					gene expression (GO:0010467)|mitochondrial tyrosyl-tRNA aminoacylation (GO:0070184)|translation (GO:0006412)|tRNA aminoacylation (GO:0043039)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)|tyrosine binding (GO:0072545)|tyrosine-tRNA ligase activity (GO:0004831)			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	16	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)				L-Tyrosine(DB00135)	CACAGTAAATGGTTTGGGGAA	0.572											OREG0021729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											0											0								G		2,4404	4.2+/-10.8	0,2,2201	109.0	116.0	113.0		225	-2.8	0.0	12		113	0,8600		0,0,4300	no	coding-synonymous	YARS2	NM_001040436.2		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		75/478	32908584	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			AF132939	CCDS31770.1	12p11.21	2014-03-19	2007-02-23		ENSG00000139131	ENSG00000139131	6.1.1.1	"""Aminoacyl tRNA synthetases / Class I"""	24249	protein-coding gene	gene with protein product	"""tyrosine tRNA ligase 2, mitochondrial"""	610957				15779907, 15840810	Standard	NM_001040436		Approved	FLJ13995, CGI-04, mt-TyrRS	uc001rli.3	Q9Y2Z4	OTTHUMG00000169454	ENST00000324868.8:c.225C>T	12.37:g.32908584G>A		836	D3DUW8|Q9H817	Silent	SNP	pfam_aa-tRNA-synth_Ic,prints_Tyr-tRNA-ligase,tigrfam_Tyr-tRNA-ligase	p.T75	ENST00000324868.8	37	c.225	CCDS31770.1	12																																																																																			0	pfam_aa-tRNA-synth_Ic,tigrfam_Tyr-tRNA-ligase		0.572	YARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YARS2	protein_coding	OTTHUMT00000404153.1	75	154	0	0.00	0	0	G	NM_015936	rs376399300	G->A		32908584	-1	no_errors	ENST00000324868	ensembl	human	known	74_37	silent	51	102	39.29	30.61	33	45	SNP	0.003	A
KRT78	196374	genome.wustl.edu	37	12	53242536	53242536	+	Missense_Mutation	SNP	C	C	A			TCGA-YT-A95D-01A-11D-A428-09	TCGA-YT-A95D-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ec079557-d895-462c-afd9-44f85c99ee79	39a3be9a-abae-47c2-9880-fe2aa424c66c	g.chr12:53242536C>A	ENST00000304620.4	-	1	242	c.179G>T	c.(178-180)gGt>gTt	p.G60V	KRT78_ENST00000359499.4_5'Flank	NM_173352.2	NP_775487.2	Q8N1N4	K2C78_HUMAN	keratin 78	60	Gly-rich.|Head.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						CCCCAGCCTACCCCCTGACCC	0.647																																							0											0													24.0	25.0	24.0					12																	53242536		2203	4298	6501	SO:0001583	missense	0			AK096419	CCDS8840.1, CCDS73473.1	12q13.13	2013-06-25			ENSG00000170423	ENSG00000170423		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28926	protein-coding gene	gene with protein product		611159				16831889	Standard	XM_005268695		Approved	K5B	uc001sbc.1	Q8N1N4	OTTHUMG00000169880	ENST00000304620.4:c.179G>T	12.37:g.53242536C>A	ENSP00000306261:p.Gly60Val		A8K4D6|Q5HYM7|Q7RTT2	Missense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_II	p.G60V	ENST00000304620.4	37	c.179	CCDS8840.1	12	.	.	.	.	.	.	.	.	.	.	C	16.19	3.051862	0.55218	.	.	ENSG00000170423	ENST00000304620	D	0.85484	-1.99	5.18	-2.93	0.05598	.	.	.	.	.	T	0.80879	0.4708	M	0.82323	2.585	0.09310	N	1	B	0.22480	0.07	B	0.16722	0.016	T	0.67734	-0.5594	9	0.42905	T	0.14	.	1.9619	0.03387	0.223:0.2721:0.3458:0.1591	.	60	Q8N1N4	K2C78_HUMAN	V	60	ENSP00000306261:G60V	ENSP00000306261:G60V	G	-	2	0	KRT78	51528803	0.000000	0.05858	0.000000	0.03702	0.274000	0.26718	-0.234000	0.09028	-0.368000	0.08040	-0.339000	0.08088	GGT	0	NULL		0.647	KRT78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT78	protein_coding	OTTHUMT00000406380.1	37	99	0	0.00	0	0	C	NM_173352	0	0		53242536	-1	no_errors	ENST00000304620	ensembl	human	known	74_37	missense	36	82	40	21.70	24	23	SNP	0	A
MYH14	79784	genome.wustl.edu	37	19	50762522	50762522	+	Splice_Site	SNP	G	G	A			TCGA-YT-A95D-01A-11D-A428-09	TCGA-YT-A95D-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ec079557-d895-462c-afd9-44f85c99ee79	39a3be9a-abae-47c2-9880-fe2aa424c66c	g.chr19:50762522G>A	ENST00000596571.1	+	16	2231	c.2231G>A	c.(2230-2232)cGa>cAa	p.R744Q	MYH14_ENST00000440075.2_Splice_Site_p.R785Q|MYH14_ENST00000262269.8_Splice_Site_p.R785Q|MYH14_ENST00000376970.2_Splice_Site_p.R777Q|MYH14_ENST00000601313.1_Splice_Site_p.R785Q|MYH14_ENST00000598205.1_Splice_Site_p.R752Q|MYH14_ENST00000425460.1_Splice_Site_p.R752Q			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	744	Myosin motor.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		TTCCGGCAGCGGTGAGCTAGA	0.672																																							0											0													10.0	12.0	12.0					19																	50762522		2145	4264	6409	SO:0001630	splice_region_variant	0			AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"""Myosins / Myosin superfamily : Class II"""	23212	protein-coding gene	gene with protein product		608568	"""myosin, heavy polypeptide 14"", ""myosin, heavy chain 14"""	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.2231+1G>A	19.37:g.50762522G>A			B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R785Q	ENST00000596571.1	37	c.2354	CCDS59411.1	19	.	.	.	.	.	.	.	.	.	.	G	26.6	4.752393	0.89753	.	.	ENSG00000105357	ENST00000301415;ENST00000440075;ENST00000376970;ENST00000425460;ENST00000376965;ENST00000262269	D;D;D;D	0.91068	-2.78;-2.78;-2.78;-2.78	3.39	3.39	0.38822	Myosin head, motor domain (2);	.	.	.	.	D	0.96018	0.8703	M	0.93150	3.385	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.995;0.993;0.988	D	0.96644	0.9476	9	0.87932	D	0	.	12.6659	0.56842	0.0:0.0:1.0:0.0	.	785;744;752	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	Q	744;785;777;752;744;785	ENSP00000406273:R785Q;ENSP00000366169:R777Q;ENSP00000407879:R752Q;ENSP00000262269:R785Q	ENSP00000262269:R785Q	R	+	2	0	MYH14	55454334	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	9.497000	0.97970	1.917000	0.55516	0.484000	0.47621	CGA	0	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom		0.672	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	MYH14	protein_coding	OTTHUMT00000464710.2	32	19	0	0.00	0	0	G	NM_024729	0	0	Missense_Mutation	50762522	1	no_errors	ENST00000262269	ensembl	human	known	74_37	missense	44	37	8.33	7.50	4	3	SNP	1	A
OTUD3	23252	genome.wustl.edu	37	1	20216922	20216923	+	Frame_Shift_Ins	INS	-	-	A			TCGA-YT-A95D-01A-11D-A428-09	TCGA-YT-A95D-10A-01D-A42B-09	-	-	-	A	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ec079557-d895-462c-afd9-44f85c99ee79	39a3be9a-abae-47c2-9880-fe2aa424c66c	g.chr1:20216922_20216923insA	ENST00000375120.3	+	2	267_268	c.266_267insA	c.(265-270)tcacgafs	p.R90fs		NM_015207.1	NP_056022.1	Q5T2D3	OTUD3_HUMAN	OTU deubiquitinase 3	90	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				protein K11-linked deubiquitination (GO:0035871)|protein K6-linked deubiquitination (GO:0044313)		ubiquitin-specific protease activity (GO:0004843)			breast(1)|kidney(2)|large_intestine(4)|lung(1)|skin(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000276)|Lung NSC(340;0.000338)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.12e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.000408)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GAGGGACACTCACGAAATCATC	0.416																																							0											0																																										SO:0001589	frameshift_variant	0			AB007928	CCDS41279.1	1p36.13	2014-02-24	2014-02-24		ENSG00000169914	ENSG00000169914		"""OTU domain containing"""	29038	protein-coding gene	gene with protein product		611758	"""OTU domain containing 3"""			9455484, 23827681	Standard	NM_015207		Approved	KIAA0459, DUBA4	uc001bcs.4	Q5T2D3	OTTHUMG00000002696	ENST00000375120.3:c.267dupA	1.37:g.20216923_20216923dupA	ENSP00000364261:p.Arg90fs		O75047	Frame_Shift_Ins	INS	pfam_OTU,pfscan_OTU	p.R90fs	ENST00000375120.3	37	c.266_267	CCDS41279.1	1																																																																																			0	pfam_OTU,pfscan_OTU		0.416	OTUD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTUD3	protein_coding	OTTHUMT00000007655.1	100	242	0	0.00	0	0	0		0	0		20216923	1	no_errors	ENST00000375120	ensembl	human	known	74_37	frame_shift_ins	70	169	33.96	28.69	36	68	INS	1.000:0.968	A
ZNF451	26036	genome.wustl.edu	37	6	57012978	57012979	+	Frame_Shift_Ins	INS	-	-	A			TCGA-YT-A95D-01A-11D-A428-09	TCGA-YT-A95D-10A-01D-A42B-09	-	-	-	A	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ec079557-d895-462c-afd9-44f85c99ee79	39a3be9a-abae-47c2-9880-fe2aa424c66c	g.chr6:57012978_57012979insA	ENST00000370706.4	+	10	2339_2340	c.2095_2096insA	c.(2095-2097)gaafs	p.E699fs	RP11-203B9.4_ENST00000585792.1_RNA|ZNF451_ENST00000491832.2_Frame_Shift_Ins_p.E699fs|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000586466.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|ZNF451_ENST00000357489.3_Frame_Shift_Ins_p.E699fs|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000589263.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	699					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			ATTTGTGTCAGAAAAAACTGAA	0.361																																							0											0																																										SO:0001589	frameshift_variant	0			AB011148	CCDS4960.1, CCDS43477.1, CCDS59026.1	6p12.1	2012-08-08			ENSG00000112200	ENSG00000112200		"""Zinc fingers, C2H2-type"""	21091	protein-coding gene	gene with protein product		615708				9628581	Standard	NM_001031623		Approved	KIAA0576, COASTER, dJ417I1.1, KIAA1702	uc003pdm.2	Q9Y4E5	OTTHUMG00000014916	ENST00000370706.4:c.2101dupA	6.37:g.57012984_57012984dupA	ENSP00000359740:p.Glu699fs		Q5VVE9|Q5VVF1|Q86YE4|Q8N380|Q8TD15|Q9C0G1|Q9NQM1	Frame_Shift_Ins	INS	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T701fs	ENST00000370706.4	37	c.2095_2096	CCDS43477.1	6																																																																																			0	NULL		0.361	ZNF451-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF451	protein_coding	OTTHUMT00000041035.2	40	248	0	0.00	0	0	0	NM_015555	0	0		57012979	1	no_errors	ENST00000370706	ensembl	human	known	74_37	frame_shift_ins	42	177	28.81	31.13	17	80	INS	1.000:1.000	A
KRT78	196374	genome.wustl.edu	37	12	53242534	53242534	+	Frame_Shift_Del	DEL	T	T	-			TCGA-YT-A95D-01A-11D-A428-09	TCGA-YT-A95D-10A-01D-A42B-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ec079557-d895-462c-afd9-44f85c99ee79	39a3be9a-abae-47c2-9880-fe2aa424c66c	g.chr12:53242534delT	ENST00000304620.4	-	1	244	c.181delA	c.(181-183)aggfs	p.R61fs	KRT78_ENST00000359499.4_5'Flank	NM_173352.2	NP_775487.2	Q8N1N4	K2C78_HUMAN	keratin 78	61	Gly-rich.|Head.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						ACCCCCAGCCTACCCCCTGAC	0.647																																							0											0													25.0	25.0	25.0					12																	53242534		2203	4298	6501	SO:0001589	frameshift_variant	0			AK096419	CCDS8840.1, CCDS73473.1	12q13.13	2013-06-25			ENSG00000170423	ENSG00000170423		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28926	protein-coding gene	gene with protein product		611159				16831889	Standard	XM_005268695		Approved	K5B	uc001sbc.1	Q8N1N4	OTTHUMG00000169880	ENST00000304620.4:c.181delA	12.37:g.53242534delT	ENSP00000306261:p.Arg61fs		A8K4D6|Q5HYM7|Q7RTT2	Frame_Shift_Del	DEL	pfam_IF,superfamily_Prefoldin,prints_Keratin_II	p.R61fs	ENST00000304620.4	37	c.181	CCDS8840.1	12																																																																																			0	NULL		0.647	KRT78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT78	protein_coding	OTTHUMT00000406380.1	36	100	0	0.00	0	0	T	NM_173352	0	0		53242534	-1	no_errors	ENST00000304620	ensembl	human	known	74_37	frame_shift_del	35	84	40.68	21.50	24	23	DEL	0.447	0
SETMAR	6419	genome.wustl.edu	37	3	4358835	4358835	+	Nonsense_Mutation	SNP	G	G	T	rs553781514	byFrequency	TCGA-YT-A95D-01A-11D-A428-09	TCGA-YT-A95D-10A-01D-A42B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ec079557-d895-462c-afd9-44f85c99ee79	39a3be9a-abae-47c2-9880-fe2aa424c66c	g.chr3:4358835G>T	ENST00000358065.4	+	3	2027	c.1960G>T	c.(1960-1962)Gaa>Taa	p.E654*	SETMAR_ENST00000425863.1_Nonsense_Mutation_p.E515*|SUMF1_ENST00000534863.1_Intron	NM_006515.3	NP_006506.3	Q53H47	SETMR_HUMAN	SET domain and mariner transposase fusion gene	654	Mariner transposase Hsmar1.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA integration (GO:0015074)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of chromosome organization (GO:2001251)|positive regulation of double-strand break repair via nonhomologous end joining (GO:2001034)|transposition, DNA-mediated (GO:0006313)	chromosome (GO:0005694)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|histone-lysine N-methyltransferase activity (GO:0018024)|protein homodimerization activity (GO:0042803)|structure-specific DNA binding (GO:0043566)|transposase activity (GO:0004803)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9		Melanoma(143;0.0657)		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)		agagttcgtcgaatcccaaag	0.393								Chromatin Structure																															0											0													15.0	16.0	15.0					3																	4358835		1553	2712	4265	SO:0001587	stop_gained	0			U80776	CCDS2563.2, CCDS58814.1, CCDS63528.1	3p26.2	2013-01-31			ENSG00000170364	ENSG00000170364			10762	protein-coding gene	gene with protein product		609834				9461395	Standard	NM_006515		Approved	metnase	uc011asp.2	Q53H47	OTTHUMG00000090265	ENST00000358065.4:c.1960G>T	3.37:g.4358835G>T	ENSP00000373354:p.Glu654*		B4DY74|E7EN68|Q13579|Q1G668|Q96F41	Nonsense_Mutation	SNP	pfam_Transposase_1,pfam_SET_dom,pfam_Pre-SET_dom,pfam_Transposase_Tc1-like,pfam_Transposase_14,superfamily_Homeodomain-like,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom	p.E654*	ENST00000358065.4	37	c.1960	CCDS2563.2	3	.	.	.	.	.	.	.	.	.	.	g	12.33	1.905615	0.33628	.	.	ENSG00000170364	ENST00000358065;ENST00000425863	.	.	.	0.225	-0.451	0.12214	.	1.402030	0.04916	U	0.454148	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	.	.	.	.	.	.	.	.	X	654;515	.	ENSP00000373354:E654X	E	+	1	0	SETMAR	4333835	0.001000	0.12720	0.009000	0.14445	0.010000	0.07245	-2.753000	0.00791	-2.126000	0.00820	-2.125000	0.00346	GAA	0	NULL		0.393	SETMAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETMAR	protein_coding	OTTHUMT00000206587.4	40	0	0	0.00	0	0	G	NM_006515	0	0		4358835	1	no_errors	ENST00000358065	ensembl	human	known	74_37	nonsense	49	0	7.55	0.00	4	0	SNP	0.013	T
UNC93B1	81622	genome.wustl.edu	37	11	67759145	67759145	+	Missense_Mutation	SNP	G	G	A			TCGA-YT-A95D-01A-11D-A428-09	TCGA-YT-A95D-10A-01D-A42B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ec079557-d895-462c-afd9-44f85c99ee79	39a3be9a-abae-47c2-9880-fe2aa424c66c	g.chr11:67759145G>A	ENST00000227471.2	-	12	1742	c.1663C>T	c.(1663-1665)Cat>Tat	p.H555Y	UNC93B1_ENST00000530331.1_5'UTR	NM_030930.2	NP_112192.2	Q9H1C4	UN93B_HUMAN	unc-93 homolog B1 (C. elegans)	556					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	early phagosome (GO:0032009)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)											CCGTCCCCATGCTCGCCCTCC	0.766																																							0											0													1.0	1.0	1.0					11																	67759145		445	1072	1517	SO:0001583	missense	0			AJ271326	CCDS73334.1	11q13.2	2014-09-17	2001-11-28		ENSG00000110057	ENSG00000110057			13481	protein-coding gene	gene with protein product		608204	"""unc93 (C. elegans) homolog B1"""			11867227	Standard	NM_030930		Approved	UNC93	uc001omw.1	Q9H1C4	OTTHUMG00000167472	ENST00000227471.2:c.1663C>T	11.37:g.67759145G>A	ENSP00000227471:p.His555Tyr		O95764|Q569H6|Q710D4	Missense_Mutation	SNP	pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt	p.H555Y	ENST00000227471.2	37	c.1663		11	.	.	.	.	.	.	.	.	.	.	.	9.850	1.193345	0.22037	.	.	ENSG00000110057	ENST00000227471	T	0.06608	3.28	4.47	0.336	0.15958	.	1.263100	0.05255	N	0.514789	T	0.03011	0.0089	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45086	-0.9285	9	.	.	.	-0.1233	1.4139	0.02297	0.2622:0.1435:0.4471:0.1471	.	556	Q9H1C4	UN93B_HUMAN	Y	555	ENSP00000227471:H555Y	.	H	-	1	0	UNC93B1	67515721	0.001000	0.12720	0.001000	0.08648	0.039000	0.13416	0.684000	0.25364	-0.222000	0.09958	-1.386000	0.01163	CAT	0	NULL		0.766	UNC93B1-201	KNOWN	basic|appris_principal	protein_coding	UNC93B1	protein_coding		21	0	4.55	0.00	1	0	G	NM_030930	0	0		67759145	-1	no_errors	ENST00000227471	ensembl	human	known	74_37	missense	31	2	8.82	0.00	3	0	SNP	0.007	A
NPIPB15	440348	genome.wustl.edu	37	16	74425946	74425946	+	Nonsense_Mutation	SNP	C	C	T	rs369331764		TCGA-YT-A95D-01A-11D-A428-09	TCGA-YT-A95D-10A-01D-A42B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ec079557-d895-462c-afd9-44f85c99ee79	39a3be9a-abae-47c2-9880-fe2aa424c66c	g.chr16:74425946C>T	ENST00000429990.1	+	7	1396	c.1300C>T	c.(1300-1302)Caa>Taa	p.Q434*				A6NHN6	NPB15_HUMAN	nuclear pore complex interacting protein family, member B15	434						extracellular region (GO:0005576)		p.Q373*(1)|p.Q434*(1)									aatcaaaaaacaaaaCAAAAC	0.338																																							0											2	Substitution - Nonsense(2)	endometrium(2)											1.0	2.0	1.0					16																	74425946		800	1861	2661	SO:0001587	stop_gained	0			BC160029		16q22.3	2013-06-11	2013-06-11	2013-06-11	ENSG00000196436	ENSG00000196436			34409	protein-coding gene	gene with protein product			"""nuclear pore complex interacting protein-like 2"""	NPIPL2			Standard	XM_005256273		Approved	LOC440348	uc010vmt.1	A6NHN6	OTTHUMG00000156916	ENST00000429990.1:c.1300C>T	16.37:g.74425946C>T	ENSP00000411140:p.Gln434*		C9J9U8	Nonsense_Mutation	SNP	NULL	p.Q434*	ENST00000429990.1	37	c.1300		16	.	.	.	.	.	.	.	.	.	.	-	9.643	1.139392	0.21205	.	.	ENSG00000196436	ENST00000504746;ENST00000429990	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25876	N	0.983642	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	2.8176	0.05461	0.4997:0.4997:3.0E-4:3.0E-4	.	.	.	.	X	298;434	.	ENSP00000411140:Q434X	Q	+	1	0	NPIPL2	72983447	.	.	0.000000	0.03702	0.000000	0.00434	.	.	-0.000000	0.14550	0.000000	0.15137	CAA	0	NULL		0.338	NPIPB15-001	KNOWN	basic|appris_principal	protein_coding	NPIPB15	protein_coding	OTTHUMT00000346597.2	29	0	3.23	0.00	1	0	C	NM_001018059	rs369331764	C->T		74425946	1	no_errors	ENST00000429990	ensembl	human	known	74_37	nonsense	62	0	11.43	0.00	8	0	SNP	0.968	T
