#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ARC	23237	genome.wustl.edu	37	8	143695260	143695260	+	Missense_Mutation	SNP	G	G	A			TCGA-A1-A0SG-01A-11D-A142-09	TCGA-A1-A0SG-10B-01D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	39642c6d-9191-4746-8a9d-62d437bfdce8	cd67f058-5ac6-427c-8b3d-d5732ca6683e	g.chr8:143695260G>A	ENST00000356613.2	-	1	1573	c.373C>T	c.(373-375)Cgc>Tgc	p.R125C	ARC_ENST00000581404.1_5'Flank	NM_015193.4	NP_056008.1	O60936	NOL3_HUMAN	activity-regulated cytoskeleton-associated protein	0					apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of gene expression (GO:0010468)|response to hypoxia (GO:0001666)|response to injury involved in regulation of muscle adaptation (GO:0014876)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|sarcoplasm (GO:0016528)	identical protein binding (GO:0042802)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	13	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)				TCGGCCCAGCGCTCCAGGCGG	0.701																																						dbGAP											0													17.0	16.0	16.0					8																	143695260		2195	4294	6489	-	-	-	SO:0001583	missense	0			AF193421	CCDS34950.1	8q24.3	2008-08-01			ENSG00000198576	ENSG00000198576			648	protein-coding gene	gene with protein product		612461				10970730, 17466953	Standard	NM_015193		Approved	KIAA0278, Arg3.1	uc003ywn.2	Q7LC44	OTTHUMG00000134310	ENST00000356613.2:c.373C>T	8.37:g.143695260G>A	ENSP00000349022:p.Arg125Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DFL0|O60937	Missense_Mutation	SNP	prints_Activity-reg_cytoskelet-assoc	p.R125C	ENST00000356613.2	37	c.373	CCDS34950.1	8	.	.	.	.	.	.	.	.	.	.	G	19.19	3.778850	0.70107	.	.	ENSG00000198576	ENST00000356613	T	0.38887	1.11	4.56	-2.84	0.05751	.	1.301710	0.06166	U	0.676790	T	0.31167	0.0788	N	0.14661	0.345	0.36155	D	0.847716	D	0.59767	0.986	B	0.43809	0.432	T	0.52961	-0.8505	10	0.87932	D	0	.	15.6591	0.77169	0.0:0.0:0.7101:0.2899	.	125	Q7LC44	ARC_HUMAN	C	125	ENSP00000349022:R125C	ENSP00000349022:R125C	R	-	1	0	ARC	143692262	0.005000	0.15991	0.992000	0.48379	0.994000	0.84299	-0.197000	0.09518	-0.272000	0.09259	0.462000	0.41574	CGC	ARC	-	prints_Activity-reg_cytoskelet-assoc	ENSG00000198576		0.701	ARC-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	ARC	HGNC	protein_coding	OTTHUMT00000259274.2	16	0.00	0	G			143695260	143695260	-1	no_errors	ENST00000356613	ensembl	human	known	69_37n	missense	11	26.67	4	SNP	0.742	A
BPIFB3	359710	genome.wustl.edu	37	20	31656715	31656715	+	Missense_Mutation	SNP	C	C	A			TCGA-A1-A0SG-01A-11D-A142-09	TCGA-A1-A0SG-10B-01D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	39642c6d-9191-4746-8a9d-62d437bfdce8	cd67f058-5ac6-427c-8b3d-d5732ca6683e	g.chr20:31656715C>A	ENST00000375494.3	+	10	1085	c.1085C>A	c.(1084-1086)gCc>gAc	p.A362D		NM_182658.1	NP_872599.1	P59826	BPIB3_HUMAN	BPI fold containing family B, member 3	362					innate immune response (GO:0045087)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										TCCCTCCCAGCCAACATCCAT	0.602																																						dbGAP											0													130.0	95.0	107.0					20																	31656715		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF549189	CCDS13212.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186190	ENSG00000186190		"""BPI fold containing"""	16178	protein-coding gene	gene with protein product		615717	"""chromosome 20 open reading frame 185"""	C20orf185		11971875, 21787333	Standard	NM_182658		Approved	dJ726C3.4, LPLUNC3, RYA3	uc002wym.1	P59826	OTTHUMG00000032234	ENST00000375494.3:c.1085C>A	20.37:g.31656715C>A	ENSP00000364643:p.Ala362Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TDX7	Missense_Mutation	SNP	pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C	p.A362D	ENST00000375494.3	37	c.1085	CCDS13212.1	20	.	.	.	.	.	.	.	.	.	.	C	11.16	1.556870	0.27827	.	.	ENSG00000186190	ENST00000375494	T	0.10288	2.89	4.25	2.28	0.28536	.	0.127728	0.35013	N	0.003506	T	0.23330	0.0564	M	0.70275	2.135	0.20975	N	0.999814	D	0.63046	0.992	D	0.64877	0.93	T	0.01869	-1.1257	10	0.54805	T	0.06	-7.9546	5.4956	0.16802	0.0:0.7437:0.0:0.2563	.	362	P59826	BPIB3_HUMAN	D	362	ENSP00000364643:A362D	ENSP00000364643:A362D	A	+	2	0	BPIFB3	31120376	0.011000	0.17503	0.723000	0.30687	0.027000	0.11550	0.628000	0.24522	1.111000	0.41721	0.591000	0.81541	GCC	BPIFB3	-	pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C	ENSG00000186190		0.602	BPIFB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BPIFB3	HGNC	protein_coding	OTTHUMT00000078654.2	108	0.92	1	C	NM_182658		31656715	31656715	+1	no_errors	ENST00000375494	ensembl	human	known	69_37n	missense	34	10.53	4	SNP	0.362	A
C2orf73	129852	genome.wustl.edu	37	2	54587645	54587645	+	Silent	SNP	T	T	C	rs369858889		TCGA-A1-A0SG-01A-11D-A142-09	TCGA-A1-A0SG-10B-01D-A17G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	39642c6d-9191-4746-8a9d-62d437bfdce8	cd67f058-5ac6-427c-8b3d-d5732ca6683e	g.chr2:54587645T>C	ENST00000398634.2	+	5	852	c.810T>C	c.(808-810)gaT>gaC	p.D270D	C2orf73_ENST00000405749.1_Intron|C2orf73_ENST00000491538.1_Intron	NM_001100396.1	NP_001093866.1	Q8N5S3	CB073_HUMAN	chromosome 2 open reading frame 73	270										breast(2)	2						CTGTAGGAGATGCTCTTTTCA	0.423																																						dbGAP											0													27.0	28.0	27.0					2																	54587645		1881	4097	5978	-	-	-	SO:0001819	synonymous_variant	0			BC031669, AK097617	CCDS46285.1	2p16.2	2008-07-07			ENSG00000177994	ENSG00000177994			26861	protein-coding gene	gene with protein product						14702039	Standard	NM_001100396		Approved	FLJ40298	uc002rxt.1	Q8N5S3	OTTHUMG00000151826	ENST00000398634.2:c.810T>C	2.37:g.54587645T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A0AV79|A0AV81|Q8N7V4	Silent	SNP	NULL	p.D270	ENST00000398634.2	37	c.810	CCDS46285.1	2																																																																																			C2orf73	-	NULL	ENSG00000177994		0.423	C2orf73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf73	HGNC	protein_coding	OTTHUMT00000324075.2	38	0.00	0	T	NM_001100396		54587645	54587645	+1	no_errors	ENST00000398634	ensembl	human	known	69_37n	silent	25	19.35	6	SNP	0.000	C
CECR2	27443	genome.wustl.edu	37	22	18028506	18028506	+	Missense_Mutation	SNP	C	C	T			TCGA-A1-A0SG-01A-11D-A142-09	TCGA-A1-A0SG-10B-01D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	39642c6d-9191-4746-8a9d-62d437bfdce8	cd67f058-5ac6-427c-8b3d-d5732ca6683e	g.chr22:18028506C>T	ENST00000400585.2	+	17	3475	c.3037C>T	c.(3037-3039)Cgc>Tgc	p.R1013C	CECR2_ENST00000262608.8_Missense_Mutation_p.R1156C|CECR2_ENST00000400573.5_Missense_Mutation_p.R1155C			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	1197					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		TCCCCGGTATCGCCCCCCACA	0.567																																						dbGAP											0													63.0	65.0	64.0					22																	18028506		1954	4133	6087	-	-	-	SO:0001583	missense	0			AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.3037C>T	22.37:g.18028506C>T	ENSP00000383428:p.Arg1013Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Missense_Mutation	SNP	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.R1155C	ENST00000400585.2	37	c.3463		22	.	.	.	.	.	.	.	.	.	.	C	16.81	3.226743	0.58668	.	.	ENSG00000099954	ENST00000400585;ENST00000400573;ENST00000262608	T;T;T	0.32988	1.55;1.54;1.43	4.11	4.11	0.48088	.	0.000000	0.49916	D	0.000123	T	0.50531	0.1621	M	0.67953	2.075	0.47476	D	0.999435	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.996;0.996	T	0.52830	-0.8523	10	0.87932	D	0	-11.6253	10.5415	0.45035	0.0:0.9103:0.0:0.0897	.	1197;1013;1155	Q9BXF3;B7WPH3;E2QRE6	CECR2_HUMAN;.;.	C	1013;1155;1156	ENSP00000383428:R1013C;ENSP00000383417:R1155C;ENSP00000262608:R1156C	ENSP00000262608:R1156C	R	+	1	0	CECR2	16408506	0.997000	0.39634	0.999000	0.59377	0.949000	0.60115	3.926000	0.56491	2.287000	0.76781	0.555000	0.69702	CGC	CECR2	-	NULL	ENSG00000099954		0.567	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	CECR2	HGNC	protein_coding	OTTHUMT00000316226.2	101	0.00	0	C	NM_031413		18028506	18028506	+1	no_errors	ENST00000400573	ensembl	human	novel	69_37n	missense	41	28.07	16	SNP	0.994	T
CEP290	80184	genome.wustl.edu	37	12	88472999	88472999	+	Missense_Mutation	SNP	C	C	T			TCGA-A1-A0SG-01A-11D-A142-09	TCGA-A1-A0SG-10B-01D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	39642c6d-9191-4746-8a9d-62d437bfdce8	cd67f058-5ac6-427c-8b3d-d5732ca6683e	g.chr12:88472999C>T	ENST00000552810.1	-	39	5577	c.5234G>A	c.(5233-5235)aGt>aAt	p.S1745N	CEP290_ENST00000547691.2_Missense_Mutation_p.S805N|CEP290_ENST00000309041.7_Missense_Mutation_p.S1747N|CEP290_ENST00000397838.3_Missense_Mutation_p.S805N	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	1745					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						AAGTGCCCGACTAAGTGCCTA	0.313																																						dbGAP											0													55.0	46.0	49.0					12																	88472999		1795	4067	5862	-	-	-	SO:0001583	missense	0			AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"""Joubert syndrome 5"", ""nephrocystin-6"", ""cancer/testis antigen 87"", ""POC3 centriolar protein homolog (Chlamydomonas)"", ""Meckel syndrome, type 4"""	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.5234G>A	12.37:g.88472999C>T	ENSP00000448012:p.Ser1745Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Missense_Mutation	SNP	NULL	p.S1747N	ENST00000552810.1	37	c.5240	CCDS55858.1	12	.	.	.	.	.	.	.	.	.	.	C	26.4	4.732334	0.89482	.	.	ENSG00000198707	ENST00000547691;ENST00000552810;ENST00000309041;ENST00000397838	D;D;D;D	0.92805	-3.11;-3.11;-3.11;-3.11	5.19	5.19	0.71726	.	0.076969	0.85682	D	0.000000	D	0.93321	0.7871	L	0.32530	0.975	0.46823	D	0.999216	D	0.89917	1.0	D	0.91635	0.999	D	0.90634	0.4569	10	0.17832	T	0.49	.	19.0728	0.93147	0.0:1.0:0.0:0.0	.	1745	O15078	CE290_HUMAN	N	805;1745;1747;805	ENSP00000446905:S805N;ENSP00000448012:S1745N;ENSP00000308021:S1747N;ENSP00000380938:S805N	ENSP00000308021:S1747N	S	-	2	0	CEP290	86997130	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	7.097000	0.76967	2.590000	0.87494	0.655000	0.94253	AGT	CEP290	-	NULL	ENSG00000198707		0.313	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CEP290	HGNC	protein_coding	OTTHUMT00000406344.1	80	0.00	0	C	NM_025114		88472999	88472999	-1	no_errors	ENST00000309041	ensembl	human	known	69_37n	missense	35	40.68	24	SNP	1.000	T
CSMD2	114784	genome.wustl.edu	37	1	34090712	34090712	+	Silent	SNP	G	G	A			TCGA-A1-A0SG-01A-11D-A142-09	TCGA-A1-A0SG-10B-01D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	39642c6d-9191-4746-8a9d-62d437bfdce8	cd67f058-5ac6-427c-8b3d-d5732ca6683e	g.chr1:34090712G>A	ENST00000373380.1	-	13	2278	c.2058C>T	c.(2056-2058)atC>atT	p.I686I	CSMD2_ENST00000373381.4_Silent_p.I1813I|CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373377.1_5'UTR			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1773	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GGAGGCACTCGATCTCTGGCG	0.657																																						dbGAP											0													77.0	73.0	75.0					1																	34090712		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.2058C>T	1.37:g.34090712G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.I1813	ENST00000373380.1	37	c.5439		1																																																																																			CSMD2	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000121904		0.657	CSMD2-002	KNOWN	basic	protein_coding	CSMD2	HGNC	protein_coding	OTTHUMT00000030635.4	35	0.00	0	G	NM_052896		34090712	34090712	-1	no_errors	ENST00000373381	ensembl	human	known	69_37n	silent	17	22.73	5	SNP	0.008	A
DSCAM	1826	genome.wustl.edu	37	21	41719645	41719645	+	Missense_Mutation	SNP	G	G	A			TCGA-A1-A0SG-01A-11D-A142-09	TCGA-A1-A0SG-10B-01D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	39642c6d-9191-4746-8a9d-62d437bfdce8	cd67f058-5ac6-427c-8b3d-d5732ca6683e	g.chr21:41719645G>A	ENST00000400454.1	-	6	1639	c.1162C>T	c.(1162-1164)Cgc>Tgc	p.R388C		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	388	Ig-like C2-type 4.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.R388C(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TTGTCCTTGCGCACAAAGCAC	0.507																																					Melanoma(134;970 1778 1785 21664 32388)	dbGAP											1	Substitution - Missense(1)	cervix(1)											241.0	220.0	227.0					21																	41719645		2007	4169	6176	-	-	-	SO:0001583	missense	0			AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.1162C>T	21.37:g.41719645G>A	ENSP00000383303:p.Arg388Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	O60468	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.R388C	ENST00000400454.1	37	c.1162	CCDS42929.1	21	.	.	.	.	.	.	.	.	.	.	G	18.49	3.635050	0.67130	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.68025	-0.3;-0.3	5.1	3.15	0.36227	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);	0.000000	0.85682	D	0.000000	T	0.75459	0.3852	L	0.49571	1.57	0.54753	D	0.99998	D	0.89917	1.0	D	0.71184	0.972	T	0.77365	-0.2615	10	0.59425	D	0.04	.	13.8439	0.63455	0.0:0.0:0.7224:0.2776	.	388	O60469	DSCAM_HUMAN	C	388;140	ENSP00000383303:R388C;ENSP00000385342:R140C	ENSP00000383303:R388C	R	-	1	0	DSCAM	40641515	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.135000	0.42112	1.078000	0.41014	0.655000	0.94253	CGC	DSCAM	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000171587		0.507	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAM	HGNC	protein_coding	OTTHUMT00000195029.1	157	0.00	0	G	NM_001389		41719645	41719645	-1	no_errors	ENST00000400454	ensembl	human	known	69_37n	missense	59	27.16	22	SNP	1.000	A
DYSF	8291	genome.wustl.edu	37	2	71827844	71827844	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A1-A0SG-01A-11D-A142-09	TCGA-A1-A0SG-10B-01D-A17G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	39642c6d-9191-4746-8a9d-62d437bfdce8	cd67f058-5ac6-427c-8b3d-d5732ca6683e	g.chr2:71827844delT	ENST00000258104.3	+	34	3992	c.3715delT	c.(3715-3717)tttfs	p.F1239fs	DYSF_ENST00000409762.1_Frame_Shift_Del_p.F1256fs|DYSF_ENST00000409366.1_Frame_Shift_Del_p.F1240fs|DYSF_ENST00000409744.1_Frame_Shift_Del_p.F1226fs|DYSF_ENST00000394120.2_Frame_Shift_Del_p.F1240fs|DYSF_ENST00000410020.3_Frame_Shift_Del_p.F1257fs|DYSF_ENST00000409651.1_Frame_Shift_Del_p.F1271fs|DYSF_ENST00000429174.2_Frame_Shift_Del_p.F1239fs|DYSF_ENST00000410041.1_Frame_Shift_Del_p.F1257fs|DYSF_ENST00000409582.3_Frame_Shift_Del_p.F1256fs|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000413539.2_Frame_Shift_Del_p.F1270fs	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1239	C2 4. {ECO:0000255|PROSITE- ProRule:PRU00041}.				plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TGCAGACGAGTTTATGGGTCG	0.597																																						dbGAP											0													88.0	91.0	90.0					2																	71827844		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.3715delT	2.37:g.71827844delT	ENSP00000258104:p.Phe1239fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Frame_Shift_Del	DEL	pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_MFS_dom_general_subst_transpt,smart_C2_Ca-dep,smart_Peroxin/Ferlin,pfscan_C2_membr_targeting	p.F1270fs	ENST00000258104.3	37	c.3808	CCDS1918.1	2																																																																																			DYSF	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	ENSG00000135636		0.597	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DYSF	HGNC	protein_coding	OTTHUMT00000251970.3	29	0.00	0	T	NM_003494		71827844	71827844	+1	no_errors	ENST00000413539	ensembl	human	known	69_37n	frame_shift_del	8	20.00	2	DEL	1.000	-
ERN1	2081	genome.wustl.edu	37	17	62130251	62130251	+	Silent	SNP	G	G	A			TCGA-A1-A0SG-01A-11D-A142-09	TCGA-A1-A0SG-10B-01D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	39642c6d-9191-4746-8a9d-62d437bfdce8	cd67f058-5ac6-427c-8b3d-d5732ca6683e	g.chr17:62130251G>A	ENST00000433197.3	-	17	2237	c.2142C>T	c.(2140-2142)ctC>ctT	p.L714L		NM_001433.3	NP_001424.3			endoplasmic reticulum to nucleus signaling 1											central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						GCTTCTTGCAGAGGCCAAAGT	0.542																																						dbGAP											0													64.0	61.0	62.0					17																	62130251		2010	4188	6198	-	-	-	SO:0001819	synonymous_variant	0			AF059198	CCDS45762.1	17q23	2011-08-12	2007-08-14			ENSG00000178607			3449	protein-coding gene	gene with protein product	"""inositol-requiring enzyme 1"""	604033	"""ER to nucleus signalling 1"""			9637683	Standard	NM_001433		Approved	IRE1, IRE1P	uc002jdz.2	O75460		ENST00000433197.3:c.2142C>T	17.37:g.62130251G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_KEN_RNase_activator,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like,smart_PQQ_beta_propeller_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PUG-dom,pfscan_Prot_kinase_cat_dom	p.L714	ENST00000433197.3	37	c.2142	CCDS45762.1	17																																																																																			ERN1	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000178607		0.542	ERN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERN1	HGNC	protein_coding	OTTHUMT00000443734.2	90	0.00	0	G	NM_001433		62130251	62130251	-1	no_errors	ENST00000433197	ensembl	human	known	69_37n	silent	18	45.45	15	SNP	1.000	A
EWSR1	2130	genome.wustl.edu	37	22	29694792	29694792	+	Missense_Mutation	SNP	G	G	C			TCGA-A1-A0SG-01A-11D-A142-09	TCGA-A1-A0SG-10B-01D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	39642c6d-9191-4746-8a9d-62d437bfdce8	cd67f058-5ac6-427c-8b3d-d5732ca6683e	g.chr22:29694792G>C	ENST00000397938.2	+	14	1806	c.1487G>C	c.(1486-1488)gGc>gCc	p.G496A	EWSR1_ENST00000331029.7_Missense_Mutation_p.G458A|EWSR1_ENST00000332035.6_Missense_Mutation_p.G440A|EWSR1_ENST00000406548.1_Missense_Mutation_p.G495A|EWSR1_ENST00000332050.6_Missense_Mutation_p.G423A|EWSR1_ENST00000414183.2_Missense_Mutation_p.G501A	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1	496	Arg/Gly/Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GATAGAGGAGGCTTCCCTCCA	0.602			T	"""FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"""	"""Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"""																																	dbGAP		Dom	yes		22	22q12	2130	Ewing sarcoma breakpoint region 1 (EWS)		"""L, M"""	0													72.0	79.0	77.0					22																	29694792		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13851.1, CCDS13852.1, CCDS13852.2, CCDS54512.1, CCDS54513.1, CCDS54514.1	22q12.2	2013-05-24	2013-05-24		ENSG00000182944	ENSG00000182944		"""RNA binding motif (RRM) containing"""	3508	protein-coding gene	gene with protein product		133450	"""Ewing sarcoma breakpoint region 1"""			1522903	Standard	NM_005243		Approved	EWS	uc003aev.3	Q01844	OTTHUMG00000151107	ENST00000397938.2:c.1487G>C	22.37:g.29694792G>C	ENSP00000381031:p.Gly496Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B0QYK1|Q5THL0|Q92635|Q96FE8|Q96MN4|Q96MX4|Q9BWA2	Missense_Mutation	SNP	pfam_Znf_RanBP2,pfam_RRM_dom,smart_RRM_dom,smart_Znf_RanBP2,pfscan_Znf_RanBP2,pfscan_RRM_dom	p.G501A	ENST00000397938.2	37	c.1502	CCDS13851.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.82|19.82	3.897565|3.897565	0.72639|0.72639	.|.	.|.	ENSG00000182944|ENSG00000182944	ENST00000332050;ENST00000397938;ENST00000406548;ENST00000331029;ENST00000414183;ENST00000332035|ENST00000360091	D;D;D;D;D;D|.	0.97186|.	-4.16;-3.78;-3.89;-4.28;-3.91;-3.82|.	5.52|5.52	5.52|5.52	0.82312|0.82312	.|.	0.000000|.	0.85682|.	U|.	0.000000|.	T|T	0.72078|0.72078	0.3416|0.3416	L|L	0.58101|0.58101	1.795|1.795	0.80722|0.80722	D|D	1|1	P;P;P;P;P|.	0.42908|.	0.793;0.793;0.793;0.793;0.793|.	B;B;B;B;B|.	0.34824|.	0.19;0.19;0.19;0.137;0.137|.	T|T	0.69083|0.69083	-0.5239|-0.5239	10|5	0.72032|.	D|.	0.01|.	.|.	18.213|18.213	0.89877|0.89877	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	440;495;440;501;496|.	Q96MN4;Q96FE8;B0QYK1;Q96MX4;Q01844|.	.;.;.;.;EWS_HUMAN|.	A|S	423;496;495;458;501;440|151	ENSP00000330896:G423A;ENSP00000381031:G496A;ENSP00000385726:G495A;ENSP00000330516:G458A;ENSP00000400142:G501A;ENSP00000331699:G440A|.	ENSP00000330516:G458A|.	G|R	+|+	2|3	0|2	EWSR1|EWSR1	28024792|28024792	1.000000|1.000000	0.71417|0.71417	0.925000|0.925000	0.36789|0.36789	0.506000|0.506000	0.33950|0.33950	9.093000|9.093000	0.94163|0.94163	2.598000|2.598000	0.87819|0.87819	0.462000|0.462000	0.41574|0.41574	GGC|AGG	EWSR1	-	NULL	ENSG00000182944		0.602	EWSR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	EWSR1	HGNC	protein_coding	OTTHUMT00000321345.1	94	0.00	0	G	NM_005243		29694792	29694792	+1	no_errors	ENST00000414183	ensembl	human	known	69_37n	missense	16	46.67	14	SNP	1.000	C
FAT2	2196	genome.wustl.edu	37	5	150922760	150922760	+	Missense_Mutation	SNP	A	A	T			TCGA-A1-A0SG-01A-11D-A142-09	TCGA-A1-A0SG-10B-01D-A17G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	39642c6d-9191-4746-8a9d-62d437bfdce8	cd67f058-5ac6-427c-8b3d-d5732ca6683e	g.chr5:150922760A>T	ENST00000261800.5	-	9	7940	c.7928T>A	c.(7927-7929)gTc>gAc	p.V2643D		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2643	Cadherin 23. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTTCACCTTGACCACACCAGT	0.483																																						dbGAP											0													134.0	127.0	129.0					5																	150922760		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.7928T>A	5.37:g.150922760A>T	ENSP00000261800:p.Val2643Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	O75091|Q9NSR7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.V2643D	ENST00000261800.5	37	c.7928	CCDS4317.1	5	.	.	.	.	.	.	.	.	.	.	A	17.92	3.505608	0.64410	.	.	ENSG00000086570	ENST00000261800	T	0.67345	-0.26	5.55	5.55	0.83447	Cadherin (4);Cadherin-like (1);	0.208574	0.33327	N	0.005028	D	0.85890	0.5802	M	0.92507	3.315	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89462	0.3737	10	0.87932	D	0	.	15.6902	0.77446	1.0:0.0:0.0:0.0	.	2643	Q9NYQ8	FAT2_HUMAN	D	2643	ENSP00000261800:V2643D	ENSP00000261800:V2643D	V	-	2	0	FAT2	150902953	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.262000	0.95591	2.108000	0.64289	0.379000	0.24179	GTC	FAT2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000086570		0.483	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT2	HGNC	protein_coding	OTTHUMT00000252434.1	76	0.00	0	A	NM_001447		150922760	150922760	-1	no_errors	ENST00000261800	ensembl	human	known	69_37n	missense	25	30.56	11	SNP	1.000	T
FRMD4A	55691	genome.wustl.edu	37	10	13852832	13852832	+	Missense_Mutation	SNP	A	A	G			TCGA-A1-A0SG-01A-11D-A142-09	TCGA-A1-A0SG-10B-01D-A17G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	39642c6d-9191-4746-8a9d-62d437bfdce8	cd67f058-5ac6-427c-8b3d-d5732ca6683e	g.chr10:13852832A>G	ENST00000357447.2	-	4	556	c.188T>C	c.(187-189)aTa>aCa	p.I63T	FRMD4A_ENST00000358621.4_Missense_Mutation_p.I48T|FRMD4A_ENST00000342409.2_Missense_Mutation_p.I79T|FRMD4A_ENST00000378503.1_Missense_Mutation_p.I63T	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	63	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						TGTGAATGCTATTCCAAAGTA	0.493																																						dbGAP											0													88.0	78.0	82.0					10																	13852832		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474			25491	protein-coding gene	gene with protein product			"""FERM domain containing 4"""	FRMD4		10718198	Standard	NM_018027		Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.188T>C	10.37:g.13852832A>G	ENSP00000350032:p.Ile63Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2Y3|Q5T377	Missense_Mutation	SNP	pfam_DUF3338,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam	p.I63T	ENST00000357447.2	37	c.188	CCDS7101.1	10	.	.	.	.	.	.	.	.	.	.	A	16.32	3.091253	0.55968	.	.	ENSG00000151474	ENST00000358621;ENST00000357447;ENST00000378503;ENST00000264546;ENST00000342409	T;T;T;T;T	0.78481	-1.18;-1.18;-1.18;-1.18;-1.18	5.67	5.67	0.87782	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);	0.000000	0.85682	D	0.000000	D	0.88695	0.6506	M	0.84585	2.705	0.80722	D	1	D;P;D	0.67145	0.976;0.952;0.996	P;P;D	0.69824	0.9;0.828;0.966	D	0.90484	0.4462	10	0.87932	D	0	-12.9699	14.903	0.70696	1.0:0.0:0.0:0.0	.	79;96;63	Q5T378;Q5T376;Q9P2Q2	.;.;FRM4A_HUMAN	T	48;63;63;96;79	ENSP00000351438:I48T;ENSP00000350032:I63T;ENSP00000367764:I63T;ENSP00000264546:I96T;ENSP00000344237:I79T	ENSP00000264546:I96T	I	-	2	0	FRMD4A	13892838	1.000000	0.71417	0.891000	0.34965	0.173000	0.22820	8.904000	0.92590	2.164000	0.68074	0.533000	0.62120	ATA	FRMD4A	-	pfam_FERM_N,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam	ENSG00000151474		0.493	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FRMD4A	HGNC	protein_coding	OTTHUMT00000046889.1	82	0.00	0	A	NM_018027		13852832	13852832	-1	no_errors	ENST00000357447	ensembl	human	known	69_37n	missense	31	24.39	10	SNP	0.999	G
GRM7	2917	genome.wustl.edu	37	3	7620374	7620374	+	Missense_Mutation	SNP	C	C	T			TCGA-A1-A0SG-01A-11D-A142-09	TCGA-A1-A0SG-10B-01D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	39642c6d-9191-4746-8a9d-62d437bfdce8	cd67f058-5ac6-427c-8b3d-d5732ca6683e	g.chr3:7620374C>T	ENST00000357716.4	+	8	2055	c.1781C>T	c.(1780-1782)cCt>cTt	p.P594L	GRM7_ENST00000403881.1_Missense_Mutation_p.P594L|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000402647.2_Missense_Mutation_p.P594L|GRM7_ENST00000486284.1_Missense_Mutation_p.P594L|GRM7_ENST00000389336.4_Missense_Mutation_p.P594L	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	594					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						GCTGTGATTCCTGTCTTCCTG	0.542																																						dbGAP											0													96.0	101.0	99.0					3																	7620374		2203	4300	6503	-	-	-	SO:0001583	missense	0			U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 87"""	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.1781C>T	3.37:g.7620374C>T	ENSP00000350348:p.Pro594Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NFS2|Q8NFS3|Q8NFS4	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_7,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4	p.P594L	ENST00000357716.4	37	c.1781	CCDS43042.1	3	.	.	.	.	.	.	.	.	.	.	C	18.25	3.582663	0.65992	.	.	ENSG00000196277	ENST00000357716;ENST00000486284;ENST00000389336;ENST00000403881;ENST00000525747;ENST00000402647;ENST00000413492	D;D;D;D;D	0.85556	-1.96;-2.0;-2.0;-2.0;-2.0	5.93	5.93	0.95920	GPCR, family 3, C-terminal (1);	0.052068	0.85682	D	0.000000	D	0.92061	0.7484	M	0.89095	3.005	0.80722	D	1	B;P;P;P;D	0.55385	0.003;0.728;0.799;0.608;0.971	B;P;B;B;P	0.58721	0.005;0.503;0.323;0.306;0.844	D	0.89472	0.3744	10	0.16420	T	0.52	.	18.9177	0.92512	0.0:1.0:0.0:0.0	.	594;594;349;594;594	B7ZKK0;Q14831-5;Q59G95;Q14831;Q14831-2	.;.;.;GRM7_HUMAN;.	L	594	ENSP00000350348:P594L;ENSP00000417536:P594L;ENSP00000373987:P594L;ENSP00000385664:P594L;ENSP00000384585:P594L	ENSP00000350348:P594L	P	+	2	0	GRM7	7595374	1.000000	0.71417	0.973000	0.42090	0.965000	0.64279	7.818000	0.86416	2.826000	0.97356	0.655000	0.94253	CCT	GRM7	-	pfscan_GPCR_3_C	ENSG00000196277		0.542	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRM7	HGNC	protein_coding	OTTHUMT00000246895.3	76	0.00	0	C	NM_000844		7620374	7620374	+1	no_errors	ENST00000402647	ensembl	human	known	69_37n	missense	25	39.02	16	SNP	1.000	T
HDAC2	3066	genome.wustl.edu	37	6	114292110	114292112	+	5'UTR	DEL	CTG	CTG	-			TCGA-A1-A0SG-01A-11D-A142-09	TCGA-A1-A0SG-10B-01D-A17G-09	CTG	CTG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	39642c6d-9191-4746-8a9d-62d437bfdce8	cd67f058-5ac6-427c-8b3d-d5732ca6683e	g.chr6:114292110_114292112delCTG	ENST00000519065.1	-	0	337_339				RP3-399L15.3_ENST00000520554.1_RNA|RP3-399L15.3_ENST00000522844.1_RNA|RP3-399L15.3_ENST00000519104.1_RNA|HDAC2_ENST00000398283.2_In_Frame_Del_p.S81del|HDAC2_ENST00000368632.2_5'UTR|RP3-399L15.3_ENST00000449620.2_RNA|HDAC2_ENST00000519108.1_5'Flank|RP3-399L15.3_ENST00000521888.1_RNA|RP3-399L15.3_ENST00000436876.2_RNA|RP3-399L15.3_ENST00000520891.1_RNA			Q92769	HDAC2_HUMAN	histone deacetylase 2						ATP-dependent chromatin remodeling (GO:0043044)|blood coagulation (GO:0007596)|cardiac muscle cell development (GO:0055013)|chromatin remodeling (GO:0006338)|circadian regulation of gene expression (GO:0032922)|dendrite development (GO:0016358)|embryonic digit morphogenesis (GO:0042733)|epidermal cell differentiation (GO:0009913)|eyelid development in camera-type eye (GO:0061029)|fungiform papilla formation (GO:0061198)|hair follicle placode formation (GO:0060789)|hippocampus development (GO:0021766)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|maintenance of chromatin silencing (GO:0006344)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell cycle (GO:0045786)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of neuron projection development (GO:0010977)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of proteolysis (GO:0045862)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of protein deacetylation (GO:0090311)|regulation of protein kinase B signaling (GO:0051896)|regulation of sarcomere organization (GO:0060297)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|replication fork (GO:0005657)|Sin3 complex (GO:0016580)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|poly(A) RNA binding (GO:0044822)|protein deacetylase activity (GO:0033558)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.S81R(1)		biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Aminophylline(DB01223)|Lovastatin(DB00227)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Valproic Acid(DB00313)|Vorinostat(DB02546)	GCTCCTCCTCctgctgctgctgc	0.685																																						dbGAP											1	Substitution - Missense(1)	prostate(1)																																								-	-	-	SO:0001623	5_prime_UTR_variant	0			U31814	CCDS43493.1, CCDS43493.2	6q21	2008-08-29			ENSG00000196591	ENSG00000196591			4853	protein-coding gene	gene with protein product		605164				9782097	Standard	NM_001527		Approved	RPD3, YAF1	uc003pwd.2	Q92769	OTTHUMG00000015411	ENST00000519065.1:c.-40CAG>-	6.37:g.114292119_114292121delCTG		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KRS5|B4DL58|E1P561|Q5SRI8|Q5SZ86|Q8NEH4	In_Frame_Del	DEL	pfam_His_deacetylse_dom,prints_His_deacetylse_1,prints_His_deacetylse	p.S81in_frame_del	ENST00000519065.1	37	c.245_243	CCDS43493.2	6																																																																																			HDAC2	-	NULL	ENSG00000196591		0.685	HDAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDAC2	HGNC	protein_coding	OTTHUMT00000041909.2	19	0.00	0	CTG			114292110	114292112	-1	no_errors	ENST00000398283	ensembl	human	known	69_37n	in_frame_del	2	50.00	2	DEL	0.004:0.002:0.001	-
HSD17B4	3295	genome.wustl.edu	37	5	118835164	118835164	+	Silent	SNP	C	C	T			TCGA-A1-A0SG-01A-11D-A142-09	TCGA-A1-A0SG-10B-01D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	39642c6d-9191-4746-8a9d-62d437bfdce8	cd67f058-5ac6-427c-8b3d-d5732ca6683e	g.chr5:118835164C>T	ENST00000256216.6	+	13	1258	c.1125C>T	c.(1123-1125)ccC>ccT	p.P375P	HSD17B4_ENST00000414835.2_Silent_p.P235P|HSD17B4_ENST00000513628.1_Silent_p.P238P|HSD17B4_ENST00000509514.1_Silent_p.P113P|HSD17B4_ENST00000510025.1_Silent_p.P351P|HSD17B4_ENST00000504811.1_Silent_p.P400P|HSD17B4_ENST00000515320.1_Silent_p.P357P	NM_000414.3	NP_000405.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	375	Enoyl-CoA hydratase 2.				alpha-linolenic acid metabolic process (GO:0036109)|androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|estrogen metabolic process (GO:0008210)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|metabolic process (GO:0008152)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)|very long-chain fatty-acyl-CoA metabolic process (GO:0036111)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	17-beta-hydroxysteroid dehydrogenase (NAD+) activity (GO:0044594)|3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity (GO:0033989)|isomerase activity (GO:0016853)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)		CCTGTTTGCCCACCTTCGGAG	0.388																																					Colon(35;490 801 34689 41394 43344)	dbGAP											0													122.0	130.0	128.0					5																	118835164		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0				CCDS4126.1, CCDS56378.1, CCDS56379.1	5q2	2011-09-20			ENSG00000133835	ENSG00000133835	4.2.1.107, 1.1.1.35	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	5213	protein-coding gene	gene with protein product	"""17beta-estradiol dehydrogenase type IV"", ""peroxisomal multifunctional protein 2"", ""17-beta-HSD IV"", ""17-beta-hydroxysteroid dehydrogenase 4"", ""D-bifunctional protein, peroxisomal"", ""D-3-hydroxyacyl-CoA dehydratase"", ""3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase"", ""beta-keto-reductase"", ""beta-hydroxyacyl dehydrogenase"", ""short chain dehydrogenase/reductase family 8C, member 1"""	601860				8938456, 19027726	Standard	NM_000414		Approved	MFE-2, DBP, SDR8C1	uc003ksj.3	P51659	OTTHUMG00000128899	ENST00000256216.6:c.1125C>T	5.37:g.118835164C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DNV1|B4DVS5|E9PB82|F5HE57	Silent	SNP	pfam_MaoC_deHydtase,pfam_DH_sc/Rdtase_SDR,pfam_SCP2_sterol-bd_dom,pfam_PKS_KR,superfamily_SCP2_sterol-bd_dom,smart_PKS/FAS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH	p.P375	ENST00000256216.6	37	c.1125	CCDS4126.1	5																																																																																			HSD17B4	-	NULL	ENSG00000133835		0.388	HSD17B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD17B4	HGNC	protein_coding	OTTHUMT00000250863.3	112	0.00	0	C	NM_000414		118835164	118835164	+1	no_errors	ENST00000256216	ensembl	human	known	69_37n	silent	40	31.03	18	SNP	0.993	T
IGKV3-15	28913	genome.wustl.edu	37	2	89385160	89385160	+	RNA	SNP	G	G	A			TCGA-A1-A0SG-01A-11D-A142-09	TCGA-A1-A0SG-10B-01D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	39642c6d-9191-4746-8a9d-62d437bfdce8	cd67f058-5ac6-427c-8b3d-d5732ca6683e	g.chr2:89385160G>A	ENST00000390252.2	-	0	123									immunoglobulin kappa variable 3-15																		GTAGCAGGAGGAAGAGAAGCT	0.522																																						dbGAP											0													8.0	8.0	8.0					2																	89385160		1050	2384	3434	-	-	-			0			M23090		2p11.2	2012-02-08			ENSG00000244437	ENSG00000244437		"""Immunoglobulins / IGK locus"""	5816	other	immunoglobulin gene							Standard	NG_000834		Approved				OTTHUMG00000151653		2.37:g.89385160G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.F9	ENST00000390252.2	37	c.27		2																																																																																			IGKV3-15	-	NULL	ENSG00000244437		0.522	IGKV3-15-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IGKV3-15	HGNC	IG_V_gene	OTTHUMT00000323402.1	51	0.00	0	G	NG_000834		89385160	89385160	-1	no_stop_codon	ENST00000390252	ensembl	human	known	69_37n	silent	20	23.08	6	SNP	0.791	A
ILVBL	10994	genome.wustl.edu	37	19	15226086	15226086	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A1-A0SG-01A-11D-A142-09	TCGA-A1-A0SG-10B-01D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	39642c6d-9191-4746-8a9d-62d437bfdce8	cd67f058-5ac6-427c-8b3d-d5732ca6683e	g.chr19:15226086delG	ENST00000263383.3	-	16	2015	c.1876delC	c.(1876-1878)cgcfs	p.R626fs	ILVBL_ENST00000534378.1_Frame_Shift_Del_p.R519fs	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	626						integral component of membrane (GO:0016021)|membrane (GO:0016020)	magnesium ion binding (GO:0000287)|thiamine pyrophosphate binding (GO:0030976)|transferase activity (GO:0016740)			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						GAGCCATCGCGGAAGTCCGTC	0.597																																						dbGAP											0													139.0	105.0	116.0					19																	15226086		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			U61263	CCDS12325.1	19p13.1	2008-07-16			ENSG00000105135	ENSG00000105135			6041	protein-coding gene	gene with protein product	"""acetolactate synthase homolog"""	605770				8954801	Standard	NM_006844		Approved	209L8, AHAS, ILV2H, MGC1269, FLJ39061, MGC19535	uc002nam.3	A1L0T0	OTTHUMG00000165630	ENST00000263383.3:c.1876delC	19.37:g.15226086delG	ENSP00000263383:p.Arg626fs	Somatic		WXS	Illumina GAIIx	Phase_IV	O43341|Q96F08|Q99651|Q9BWN5|Q9UEB2	Frame_Shift_Del	DEL	pfam_Thiamin_PyroP_enz_TPP-bd_dom,pfam_TPP_enzyme-bd_C,pfam_Thiamin_PyroP_enz_cen_dom	p.R626fs	ENST00000263383.3	37	c.1876	CCDS12325.1	19																																																																																			ILVBL	-	NULL	ENSG00000105135		0.597	ILVBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ILVBL	HGNC	protein_coding	OTTHUMT00000385439.1	63	0.00	0	G	NM_006844		15226086	15226086	-1	no_errors	ENST00000263383	ensembl	human	known	69_37n	frame_shift_del	17	10.53	2	DEL	1.000	-
KRTAP13-2	337959	genome.wustl.edu	37	21	31744287	31744287	+	Missense_Mutation	SNP	C	C	A	rs113360916	byFrequency	TCGA-A1-A0SG-01A-11D-A142-09	TCGA-A1-A0SG-10B-01D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	39642c6d-9191-4746-8a9d-62d437bfdce8	cd67f058-5ac6-427c-8b3d-d5732ca6683e	g.chr21:31744287C>A	ENST00000399889.2	-	1	270	c.245G>T	c.(244-246)cGc>cTc	p.R82L		NM_181621.3	NP_853652.1	Q52LG2	KR132_HUMAN	keratin associated protein 13-2	82	5 X 10 AA approximate repeats.					intermediate filament (GO:0005882)				endometrium(1)|kidney(1)|lung(14)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	21						GGTTCTGGGGCGGTAGCAGGA	0.607																																						dbGAP											0													59.0	59.0	59.0					21																	31744287		2203	4300	6503	-	-	-	SO:0001583	missense	0			AP001708	CCDS13589.1	21q22.1	2011-02-10			ENSG00000182816	ENSG00000182816		"""Keratin associated proteins"""	18923	protein-coding gene	gene with protein product						12359730	Standard	NM_181621		Approved	KAP13-2	uc002ynz.4	Q52LG2	OTTHUMG00000057793	ENST00000399889.2:c.245G>T	21.37:g.31744287C>A	ENSP00000382777:p.Arg82Leu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_PMG	p.R82L	ENST00000399889.2	37	c.245	CCDS13589.1	21	.	.	.	.	.	.	.	.	.	.	C	9.136	1.012646	0.19277	.	.	ENSG00000182816	ENST00000399889	T	0.03242	4.0	4.26	1.36	0.22044	.	0.161204	0.28871	N	0.013862	T	0.06142	0.0159	M	0.84585	2.705	0.09310	N	0.999999	B	0.24483	0.104	B	0.28991	0.097	T	0.36553	-0.9743	10	0.21014	T	0.42	.	4.1563	0.10263	0.1829:0.6128:0.0:0.2043	.	82	Q52LG2	KR132_HUMAN	L	82	ENSP00000382777:R82L	ENSP00000382777:R82L	R	-	2	0	KRTAP13-2	30666158	0.000000	0.05858	0.054000	0.19295	0.994000	0.84299	-1.818000	0.01717	0.138000	0.18790	0.655000	0.94253	CGC	KRTAP13-2	-	pfam_PMG	ENSG00000182816		0.607	KRTAP13-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP13-2	HGNC	protein_coding	OTTHUMT00000128245.1	146	0.00	0	C			31744287	31744287	-1	no_errors	ENST00000399889	ensembl	human	known	69_37n	missense	54	27.03	20	SNP	0.321	A
LMO3	55885	genome.wustl.edu	37	12	16713405	16713405	+	Missense_Mutation	SNP	G	G	C			TCGA-A1-A0SG-01A-11D-A142-09	TCGA-A1-A0SG-10B-01D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	39642c6d-9191-4746-8a9d-62d437bfdce8	cd67f058-5ac6-427c-8b3d-d5732ca6683e	g.chr12:16713405G>C	ENST00000320122.6	-	3	796	c.274C>G	c.(274-276)Cgt>Ggt	p.R92G	LMO3_ENST00000537304.1_Missense_Mutation_p.R92G|LMO3_ENST00000447609.1_Missense_Mutation_p.R92G|LMO3_ENST00000261169.6_Missense_Mutation_p.R103G|LMO3_ENST00000534946.1_Missense_Mutation_p.R92G|LMO3_ENST00000540848.1_Missense_Mutation_p.R92G|LMO3_ENST00000441439.2_Missense_Mutation_p.R92G|LMO3_ENST00000541295.1_Missense_Mutation_p.R110G|LMO3_ENST00000541846.1_Missense_Mutation_p.R92G|LMO3_ENST00000540445.1_Missense_Mutation_p.R114G|LMO3_ENST00000354662.1_Missense_Mutation_p.R92G|LMO3_ENST00000535535.1_Missense_Mutation_p.R92G	NM_001243611.1	NP_001230540.1	Q8TAP4	LMO3_HUMAN	LIM domain only 3 (rhombotin-like 2)	92	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|skin(1)	5		Hepatocellular(102;0.244)				TCCTTGGCACGCATCACCATC	0.423																																						dbGAP											0													133.0	109.0	117.0					12																	16713405		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC026311	CCDS8678.1, CCDS58210.1, CCDS58211.1, CCDS58212.1	12p13	2004-05-19			ENSG00000048540	ENSG00000048540			6643	protein-coding gene	gene with protein product		180386		RBTNL2		11489251	Standard	NM_018640		Approved	Rhom-3, DAT1	uc010shy.2	Q8TAP4	OTTHUMG00000168837	ENST00000320122.6:c.274C>G	12.37:g.16713405G>C	ENSP00000312856:p.Arg92Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DG90|B4DH35|Q58A66|Q58A67|Q8N974|Q9UDD5	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.R110G	ENST00000320122.6	37	c.328	CCDS8678.1	12	.	.	.	.	.	.	.	.	.	.	G	17.94	3.510689	0.64522	.	.	ENSG00000048540	ENST00000354662;ENST00000441439;ENST00000447609;ENST00000320122;ENST00000261169;ENST00000542544;ENST00000540848;ENST00000535535;ENST00000537304;ENST00000541295;ENST00000534946;ENST00000540445;ENST00000541846;ENST00000539534;ENST00000546281;ENST00000537757;ENST00000546279;ENST00000538051	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61;0.61;0.61;0.61;0.61;0.61;0.61;0.61;0.61;0.61;0.61;0.61;0.61	4.58	2.5	0.30297	Zinc finger, LIM-type (5);	0.000000	0.85682	D	0.000000	T	0.67730	0.2924	M	0.85945	2.785	0.58432	D	0.999992	D;D;D;D	0.89917	1.0;1.0;0.998;1.0	D;D;D;D	0.79784	0.993;0.991;0.969;0.991	T	0.71800	-0.4483	10	0.87932	D	0	.	10.0513	0.42216	0.0:0.0:0.4669:0.5331	.	114;110;92;103	B4DH35;B4DG90;Q8TAP4;Q58A67	.;.;LMO3_HUMAN;.	G	92;92;92;92;103;72;92;92;92;110;92;114;92;92;92;92;92;92	ENSP00000346689:R92G;ENSP00000412479:R92G;ENSP00000413703:R92G;ENSP00000312856:R92G;ENSP00000261169:R103G;ENSP00000445751:R92G;ENSP00000446115:R92G;ENSP00000440099:R92G;ENSP00000446463:R110G;ENSP00000439275:R92G;ENSP00000442786:R114G;ENSP00000444393:R92G;ENSP00000443807:R92G;ENSP00000442713:R92G;ENSP00000445193:R92G;ENSP00000441360:R92G;ENSP00000445504:R92G	ENSP00000261169:R103G	R	-	1	0	LMO3	16604672	1.000000	0.71417	0.988000	0.46212	0.997000	0.91878	2.113000	0.41902	1.091000	0.41335	0.591000	0.81541	CGT	LMO3	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	ENSG00000048540		0.423	LMO3-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LMO3	HGNC	protein_coding	OTTHUMT00000401279.1	124	0.00	0	G	NM_018640		16713405	16713405	-1	no_errors	ENST00000541295	ensembl	human	known	69_37n	missense	44	26.67	16	SNP	1.000	C
MAP3K1	4214	genome.wustl.edu	37	5	56178135	56178136	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A1-A0SG-01A-11D-A142-09	TCGA-A1-A0SG-10B-01D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	39642c6d-9191-4746-8a9d-62d437bfdce8	cd67f058-5ac6-427c-8b3d-d5732ca6683e	g.chr5:56178135_56178136insA	ENST00000399503.3	+	14	3108_3109	c.3108_3109insA	c.(3109-3111)aaafs	p.K1037fs		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	1037					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		GTCCTGAAAACAAAGACTCAGA	0.45																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.3111dupA	5.37:g.56178138_56178138dupA	ENSP00000382423:p.Lys1037fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Ins	INS	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom	p.D1037fs	ENST00000399503.3	37	c.3108_3109	CCDS43318.1	5																																																																																			MAP3K1	-	NULL	ENSG00000095015		0.450	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MAP3K1	HGNC	protein_coding	OTTHUMT00000132309.2	63	0.00	0	-	XM_042066		56178135	56178136	+1	no_errors	ENST00000399503	ensembl	human	novel	69_37n	frame_shift_ins	14	41.67	10	INS	1.000:1.000	A
MED12	9968	genome.wustl.edu	37	X	70361800	70361800	+	Missense_Mutation	SNP	A	A	G			TCGA-A1-A0SG-01A-11D-A142-09	TCGA-A1-A0SG-10B-01D-A17G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	39642c6d-9191-4746-8a9d-62d437bfdce8	cd67f058-5ac6-427c-8b3d-d5732ca6683e	g.chrX:70361800A>G	ENST00000374080.3	+	44	6508	c.6476A>G	c.(6475-6477)cAa>cGa	p.Q2159R	NLGN3_ENST00000358741.3_5'Flank|AL590764.1_ENST00000579622.1_RNA|NLGN3_ENST00000536169.1_5'Flank|MED12_ENST00000374102.1_Missense_Mutation_p.Q2158R|NLGN3_ENST00000374051.3_5'Flank|MED12_ENST00000333646.6_Missense_Mutation_p.Q2162R			Q93074	MED12_HUMAN	mediator complex subunit 12	2159	Gln-rich.				androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CGGCAACTTCAACAACAGCTC	0.542			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																															dbGAP		Dom	yes		X	Xq13	9968	mediator complex subunit 12	Yes	M	0													58.0	58.0	58.0					X																	70361800		2006	4174	6180	-	-	-	SO:0001583	missense	0			U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.6476A>G	X.37:g.70361800A>G	ENSP00000363193:p.Gln2159Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12_catenin-bd,pfam_Mediator_Med12	p.Q2162R	ENST00000374080.3	37	c.6485	CCDS43970.1	X	.	.	.	.	.	.	.	.	.	.	A	16.67	3.189065	0.57909	.	.	ENSG00000184634	ENST00000333646;ENST00000374102;ENST00000374080;ENST00000430072;ENST00000439750	T;T;T;T;T	0.18502	2.21;2.21;2.21;2.21;2.21	5.15	5.15	0.70609	.	0.124009	0.56097	D	0.000034	T	0.29652	0.0740	L	0.36672	1.1	0.58432	D	0.999992	P;P;P	0.48294	0.851;0.908;0.851	P;P;P	0.61397	0.775;0.888;0.775	T	0.01805	-1.1270	10	0.59425	D	0.04	-8.4052	13.791	0.63140	1.0:0.0:0.0:0.0	.	2009;2158;2159	Q7Z3Z5;Q93074-3;Q93074	.;.;MED12_HUMAN	R	2162;2158;2159;2109;907	ENSP00000333125:Q2162R;ENSP00000363215:Q2158R;ENSP00000363193:Q2159R;ENSP00000414203:Q2109R;ENSP00000408388:Q907R	ENSP00000333125:Q2162R	Q	+	2	0	MED12	70278525	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	4.657000	0.61490	1.911000	0.55334	0.486000	0.48141	CAA	MED12	-	NULL	ENSG00000184634		0.542	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	MED12	HGNC	protein_coding	OTTHUMT00000057105.1	113	0.00	0	A	NM_005120		70361800	70361800	+1	no_errors	ENST00000333646	ensembl	human	known	69_37n	missense	24	42.86	18	SNP	1.000	G
MIS12	79003	genome.wustl.edu	37	17	5392578	5392578	+	Missense_Mutation	SNP	A	A	T			TCGA-A1-A0SG-01A-11D-A142-09	TCGA-A1-A0SG-10B-01D-A17G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	39642c6d-9191-4746-8a9d-62d437bfdce8	cd67f058-5ac6-427c-8b3d-d5732ca6683e	g.chr17:5392578A>T	ENST00000381165.3	+	3	949	c.396A>T	c.(394-396)ttA>ttT	p.L132F	MIS12_ENST00000573759.1_Missense_Mutation_p.L132F|DERL2_ENST00000571968.1_5'Flank	NM_001258217.1|NM_001258219.1|NM_001258220.1|NM_024039.2	NP_001245146.1|NP_001245148.1|NP_001245149.1|NP_076944.1			MIS12 kinetochore complex component											central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(2)	12						AGACTGAATTATGTACTAAGC	0.373																																						dbGAP											0													112.0	109.0	110.0					17																	5392578		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL136906	CCDS11074.1	17p13.3	2013-07-03	2013-07-03		ENSG00000167842	ENSG00000167842			24967	protein-coding gene	gene with protein product		609178	"""MIS12, MIND kinetochore complex component, homolog (yeast)"", ""MIS12, MIND kinetochore complex component, homolog (S. pombe)"""			11230166, 12515822	Standard	NM_001258217		Approved	MGC2488, hMIS12, KNTC2AP, MTW1	uc031qyj.1	Q9H081	OTTHUMG00000102042	ENST00000381165.3:c.396A>T	17.37:g.5392578A>T	ENSP00000370557:p.Leu132Phe	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Centromere_Mis12	p.L132F	ENST00000381165.3	37	c.396	CCDS11074.1	17	.	.	.	.	.	.	.	.	.	.	A	17.35	3.366770	0.61513	.	.	ENSG00000167842	ENST00000381165	T	0.46063	0.88	6.08	-5.68	0.02436	.	0.430922	0.24282	N	0.039896	T	0.36908	0.0984	L	0.36672	1.1	0.09310	N	1	P	0.50819	0.939	P	0.55455	0.776	T	0.37197	-0.9716	10	0.46703	T	0.11	-1.9006	8.1758	0.31281	0.1963:0.1056:0.5852:0.1129	.	132	Q9H081	MIS12_HUMAN	F	132	ENSP00000370557:L132F	ENSP00000370557:L132F	L	+	3	2	MIS12	5333302	0.000000	0.05858	0.130000	0.21974	0.975000	0.68041	-0.623000	0.05546	-0.627000	0.05589	-0.353000	0.07706	TTA	MIS12	-	pfam_Centromere_Mis12	ENSG00000167842		0.373	MIS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIS12	HGNC	protein_coding	OTTHUMT00000219827.1	74	0.00	0	A	NM_024039		5392578	5392578	+1	no_errors	ENST00000381165	ensembl	human	known	69_37n	missense	30	41.18	21	SNP	0.000	T
MMP15	4324	genome.wustl.edu	37	16	58074022	58074022	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A1-A0SG-01A-11D-A142-09	TCGA-A1-A0SG-10B-01D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	39642c6d-9191-4746-8a9d-62d437bfdce8	cd67f058-5ac6-427c-8b3d-d5732ca6683e	g.chr16:58074022delC	ENST00000219271.3	+	4	1469	c.684delC	c.(682-684)ggcfs	p.G228fs		NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN	matrix metallopeptidase 15 (membrane-inserted)	228					cellular protein modification process (GO:0006464)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)|response to estradiol (GO:0032355)	extracellular matrix (GO:0031012)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18					Marimastat(DB00786)	CTGGCCCCGGCCTAGGCGGGG	0.637																																						dbGAP											0													48.0	46.0	46.0					16																	58074022		2198	4300	6498	-	-	-	SO:0001589	frameshift_variant	0			Z48482	CCDS10792.1	16q13	2008-05-14	2005-08-08		ENSG00000102996	ENSG00000102996			7161	protein-coding gene	gene with protein product		602261	"""matrix metalloproteinase 15 (membrane-inserted)"""			9070935, 9119382	Standard	NM_002428		Approved	MT2-MMP, MTMMP2, SMCP-2	uc002ena.3	P51511	OTTHUMG00000133466	ENST00000219271.3:c.684delC	16.37:g.58074022delC	ENSP00000219271:p.Gly228fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A0A2U6|Q14111	Frame_Shift_Del	DEL	pirsf_Pept_M10A_matrix_strom,pfam_Hemopexin/matrixin_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,prints_Pept_M10A_matrixin	p.L229fs	ENST00000219271.3	37	c.684	CCDS10792.1	16																																																																																			MMP15	-	pirsf_Pept_M10A_matrix_strom,pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo	ENSG00000102996		0.637	MMP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP15	HGNC	protein_coding	OTTHUMT00000257342.1	33	0.00	0	C	NM_002428		58074022	58074022	+1	no_errors	ENST00000219271	ensembl	human	known	69_37n	frame_shift_del	6	25.00	2	DEL	1.000	-
MRPL46	26589	genome.wustl.edu	37	15	89008087	89008087	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A1-A0SG-01A-11D-A142-09	TCGA-A1-A0SG-10B-01D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	39642c6d-9191-4746-8a9d-62d437bfdce8	cd67f058-5ac6-427c-8b3d-d5732ca6683e	g.chr15:89008087G>A	ENST00000312475.4	-	3	477	c.436C>T	c.(436-438)Cga>Tga	p.R146*	MRPL46_ENST00000559538.1_5'Flank|MRPS11_ENST00000325844.4_5'Flank|MRPS11_ENST00000353598.6_5'Flank	NM_022163.3	NP_071446.2	Q9H2W6	RM46_HUMAN	mitochondrial ribosomal protein L46	146						mitochondrion (GO:0005739)|ribosome (GO:0005840)	hydrolase activity (GO:0016787)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5	Lung NSC(78;0.203)		BRCA - Breast invasive adenocarcinoma(143;0.188)			AGGGATGTTCGGTCATTCTTT	0.478																																						dbGAP											0													116.0	115.0	116.0					15																	89008087		2201	4299	6500	-	-	-	SO:0001587	stop_gained	0			AF210056	CCDS10341.1	15q25.3	2012-10-08	2001-12-10	2001-12-14	ENSG00000259494	ENSG00000259494		"""Mitochondrial ribosomal proteins / large subunits"""	1192	protein-coding gene	gene with protein product		611851	"""chromosome 15 open reading frame 4"""	C15orf4		11761714, 11551941	Standard	NM_022163		Approved	LIECG2, P2ECSL	uc002bmj.2	Q9H2W6	OTTHUMG00000148683	ENST00000312475.4:c.436C>T	15.37:g.89008087G>A	ENSP00000312311:p.Arg146*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RD75|Q9HBU8	Nonsense_Mutation	SNP	pfam_Ribosomal_L46,superfamily_NUDIX_hydrolase_dom-like	p.R146*	ENST00000312475.4	37	c.436	CCDS10341.1	15	.	.	.	.	.	.	.	.	.	.	G	16.89	3.246642	0.59103	.	.	ENSG00000173867	ENST00000312475	.	.	.	5.61	1.47	0.22746	.	0.393509	0.26072	N	0.026517	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	.	8.9962	0.36055	0.067:0.0:0.4357:0.4973	.	.	.	.	X	146	.	ENSP00000312311:R146X	R	-	1	2	MRPL46	86809091	0.972000	0.33761	0.156000	0.22583	0.197000	0.23852	1.226000	0.32563	0.084000	0.17077	-0.140000	0.14226	CGA	MRPL46	-	NULL	ENSG00000259494		0.478	MRPL46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL46	Clone_based_vega_gene	protein_coding	OTTHUMT00000309073.1	81	0.00	0	G	NM_022163		89008087	89008087	-1	no_errors	ENST00000312475	ensembl	human	known	69_37n	nonsense	41	28.07	16	SNP	0.746	A
NAV3	89795	genome.wustl.edu	37	12	78569098	78569098	+	Missense_Mutation	SNP	G	G	A			TCGA-A1-A0SG-01A-11D-A142-09	TCGA-A1-A0SG-10B-01D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	39642c6d-9191-4746-8a9d-62d437bfdce8	cd67f058-5ac6-427c-8b3d-d5732ca6683e	g.chr12:78569098G>A	ENST00000397909.2	+	25	5167	c.4994G>A	c.(4993-4995)aGa>aAa	p.R1665K	NAV3_ENST00000536525.2_Missense_Mutation_p.R1665K|NAV3_ENST00000266692.7_Missense_Mutation_p.R1488K|NAV3_ENST00000228327.6_Missense_Mutation_p.R1665K			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1665						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CTTCGCATCAGAAGACAGCAT	0.428										HNSCC(70;0.22)																												dbGAP											0													104.0	98.0	100.0					12																	78569098		1884	4111	5995	-	-	-	SO:0001583	missense	0			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.4994G>A	12.37:g.78569098G>A	ENSP00000381007:p.Arg1665Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.R1665K	ENST00000397909.2	37	c.4994		12	.	.	.	.	.	.	.	.	.	.	G	33	5.256069	0.95336	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000378640;ENST00000550788	D;D;D;D;D	0.93763	-3.28;-3.28;-3.28;-3.28;-3.28	5.61	5.61	0.85477	.	0.000000	0.39687	U	0.001287	D	0.95114	0.8417	L	0.45581	1.43	0.80722	D	1	P;D;D;D	0.71674	0.719;0.974;0.998;0.996	P;D;D;D	0.76071	0.474;0.969;0.986;0.987	D	0.92053	0.5650	10	0.15066	T	0.55	-22.6957	20.0018	0.97417	0.0:0.0:1.0:0.0	.	1665;1488;1665;1665	E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2	.;.;NAV3_HUMAN;.	K	1665;1665;1665;1488;286;294	ENSP00000446132:R1665K;ENSP00000381007:R1665K;ENSP00000228327:R1665K;ENSP00000266692:R1488K;ENSP00000448303:R294K	ENSP00000228327:R1665K	R	+	2	0	NAV3	77093229	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.813000	0.99286	2.793000	0.96121	0.655000	0.94253	AGA	NAV3	-	NULL	ENSG00000067798		0.428	NAV3-001	KNOWN	basic	protein_coding	NAV3	HGNC	protein_coding	OTTHUMT00000406812.1	125	0.00	0	G	NM_001024383		78569098	78569098	+1	no_errors	ENST00000397909	ensembl	human	known	69_37n	missense	51	36.25	29	SNP	1.000	A
PADI2	11240	genome.wustl.edu	37	1	17419026	17419026	+	Missense_Mutation	SNP	G	G	C			TCGA-A1-A0SG-01A-11D-A142-09	TCGA-A1-A0SG-10B-01D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	39642c6d-9191-4746-8a9d-62d437bfdce8	cd67f058-5ac6-427c-8b3d-d5732ca6683e	g.chr1:17419026G>C	ENST00000375486.4	-	6	595	c.532C>G	c.(532-534)Ctc>Gtc	p.L178V	PADI2_ENST00000375481.1_Missense_Mutation_p.L178V|PADI2_ENST00000444885.2_Intron	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	178					chromatin-mediated maintenance of transcription (GO:0048096)|histone H3-R26 citrullination (GO:0036413)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of lymphocyte chemotaxis (GO:1901624)|protein citrullination (GO:0018101)|regulation of chromatin disassembly (GO:0010848)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptionally active chromatin (GO:0035327)	calcium ion binding (GO:0005509)|estrogen receptor binding (GO:0030331)|protein-arginine deiminase activity (GO:0004668)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	ATGTCCTTGAGATCTGAGGGA	0.498																																						dbGAP											0													62.0	59.0	60.0					1																	17419026		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB030176	CCDS177.1	1p35.2-p35.1	2008-02-05			ENSG00000117115	ENSG00000117115	3.5.3.15	"""Peptidyl arginine deiminases"""	18341	protein-coding gene	gene with protein product		607935				2768262	Standard	NM_007365		Approved	KIAA0994, PDI2	uc001baf.3	Q9Y2J8	OTTHUMG00000002295	ENST00000375486.4:c.532C>G	1.37:g.17419026G>C	ENSP00000364635:p.Leu178Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96DA7|Q9UPN2	Missense_Mutation	SNP	pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub	p.L178V	ENST00000375486.4	37	c.532	CCDS177.1	1	.	.	.	.	.	.	.	.	.	.	G	19.03	3.747811	0.69533	.	.	ENSG00000117115	ENST00000375486;ENST00000375481	T;T	0.27256	1.68;1.68	5.59	5.59	0.84812	Protein-arginine deiminase (PAD), central domain (2);	0.000000	0.85682	D	0.000000	T	0.48537	0.1505	M	0.77313	2.365	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.38373	-0.9664	10	0.18276	T	0.48	-42.3938	12.5511	0.56227	0.0805:0.0:0.9195:0.0	.	178	Q9Y2J8	PADI2_HUMAN	V	178	ENSP00000364635:L178V;ENSP00000364630:L178V	ENSP00000364630:L178V	L	-	1	0	PADI2	17291613	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	3.510000	0.53393	2.642000	0.89623	0.561000	0.74099	CTC	PADI2	-	pfam_Prot_Arg_deaminase_cen_dom,superfamily_Prot_Arg_deaminase_cen_dom,pirsf_Protein-arginine_deiminase_sub	ENSG00000117115		0.498	PADI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PADI2	HGNC	protein_coding	OTTHUMT00000006624.1	69	0.00	0	G			17419026	17419026	-1	no_errors	ENST00000375486	ensembl	human	known	69_37n	missense	20	23.08	6	SNP	1.000	C
PPID	5481	genome.wustl.edu	37	4	159640438	159640438	+	Splice_Site	SNP	A	A	C			TCGA-A1-A0SG-01A-11D-A142-09	TCGA-A1-A0SG-10B-01D-A17G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	39642c6d-9191-4746-8a9d-62d437bfdce8	cd67f058-5ac6-427c-8b3d-d5732ca6683e	g.chr4:159640438A>C	ENST00000307720.3	-	3	334	c.227T>G	c.(226-228)aTt>aGt	p.I76S		NM_005038.2	NP_005029.1	Q08752	PPID_HUMAN	peptidylprolyl isomerase D	76	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				apoptotic process (GO:0006915)|cellular response to UV-A (GO:0071492)|chaperone-mediated protein folding (GO:0061077)|lipid particle organization (GO:0034389)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein secretion (GO:0050714)|positive regulation of viral genome replication (GO:0045070)|protein complex assembly (GO:0006461)|protein folding (GO:0006457)|protein transport (GO:0015031)|viral release from host cell (GO:0019076)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	cyclosporin A binding (GO:0016018)|estrogen receptor binding (GO:0030331)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|Hsp90 protein binding (GO:0051879)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|transcription factor binding (GO:0008134)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0159)		TTTCTTAATAACTACAAAAAA	0.348																																						dbGAP											0													58.0	59.0	59.0					4																	159640438		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0				CCDS3801.1	4q31.3	2013-01-10	2008-10-24		ENSG00000171497	ENSG00000171497		"""Tetratricopeptide (TTC) repeat domain containing"""	9257	protein-coding gene	gene with protein product	"""cyclophilin 40"""	601753	"""peptidylprolyl isomerase D (cyclophilin D)"""			8509368	Standard	NM_005038		Approved	CYP-40	uc003iqc.3	Q08752	OTTHUMG00000161927	ENST00000307720.3:c.227-1T>G	4.37:g.159640438A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9V2	Missense_Mutation	SNP	pfam_Cyclophilin-like_PPIase_dom,pfam_TPR-1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom	p.I76S	ENST00000307720.3	37	c.227	CCDS3801.1	4	.	.	.	.	.	.	.	.	.	.	A	23.5	4.417801	0.83449	.	.	ENSG00000171497	ENST00000307720	T	0.24723	1.84	5.01	5.01	0.66863	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (4);Cyclophilin-like (1);Peptidyl-prolyl cis-trans isomerase, cyclophilin-type, conserved site (1);	0.000000	0.43919	D	0.000503	T	0.58637	0.2136	M	0.84082	2.675	0.80722	D	1	B	0.29188	0.236	P	0.58721	0.844	T	0.62029	-0.6940	10	0.62326	D	0.03	.	15.4384	0.75165	1.0:0.0:0.0:0.0	.	76	Q08752	PPID_HUMAN	S	76	ENSP00000303754:I76S	ENSP00000303754:I76S	I	-	2	0	PPID	159859888	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	8.831000	0.92068	2.194000	0.70268	0.459000	0.35465	ATT	PPID	-	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom	ENSG00000171497		0.348	PPID-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPID	HGNC	protein_coding	OTTHUMT00000366436.1	116	0.00	0	A	NM_005038	Missense_Mutation	159640438	159640438	-1	no_errors	ENST00000307720	ensembl	human	known	69_37n	missense	65	29.35	27	SNP	1.000	C
RNA5-8SP6	100873336	genome.wustl.edu	37	Y	10037843	10037843	+	RNA	SNP	C	C	T			TCGA-A1-A0SG-01A-11D-A142-09	TCGA-A1-A0SG-10B-01D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	39642c6d-9191-4746-8a9d-62d437bfdce8	cd67f058-5ac6-427c-8b3d-d5732ca6683e	g.chrY:10037843C>T	ENST00000515896.1	+	0	80									RNA, 5.8S ribosomal pseudogene 6																		AATTGCAGGACACATTGATCA	0.512																																						dbGAP											0																																										-	-	-			0					Yp11.2	2012-08-07	2012-08-07	2012-08-07	ENSG00000251705	ENSG00000251705			41960	pseudogene	RNA, pseudogene			"""RNA, 5.8S ribosomal 6"""	RN5-8S6			Standard	NG_033474		Approved						Y.37:g.10037843C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000515896.1	37	NULL		Y																																																																																			RNA5-8SP6	-	-	ENSG00000251705		0.512	RNA5-8SP6-201	KNOWN	basic	rRNA	RNA5-8SP6	HGNC	rRNA		38	0.00	0	C			10037843	10037843	+1	no_errors	ENST00000515896	ensembl	human	known	69_37n	rna	13	23.53	4	SNP	1.000	T
SCN7A	6332	genome.wustl.edu	37	2	167263066	167263066	+	Missense_Mutation	SNP	C	C	T			TCGA-A1-A0SG-01A-11D-A142-09	TCGA-A1-A0SG-10B-01D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	39642c6d-9191-4746-8a9d-62d437bfdce8	cd67f058-5ac6-427c-8b3d-d5732ca6683e	g.chr2:167263066C>T	ENST00000409855.1	-	25	4199	c.4073G>A	c.(4072-4074)cGt>cAt	p.R1358H		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1358					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	TTTTCCAAGACGCAGCATGTG	0.468																																						dbGAP											0													119.0	113.0	115.0					2																	167263066		1981	4154	6135	-	-	-	SO:0001583	missense	0			M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10594	protein-coding gene	gene with protein product		182392	"""sodium channel, voltage-gated, type VI, alpha"", ""sodium channel, voltage-gated, type VII, alpha"""	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.4073G>A	2.37:g.167263066C>T	ENSP00000386796:p.Arg1358His	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu	p.R1358H	ENST00000409855.1	37	c.4073	CCDS46442.1	2	.	.	.	.	.	.	.	.	.	.	C	14.58	2.579051	0.46006	.	.	ENSG00000136546	ENST00000409855;ENST00000259060	D	0.98455	-4.94	5.35	2.62	0.31277	Ion transport (1);	0.338199	0.28821	N	0.014040	D	0.96059	0.8716	L	0.60957	1.885	0.41471	D	0.988101	B	0.24043	0.096	B	0.19946	0.027	D	0.94235	0.7480	10	0.62326	D	0.03	.	8.9932	0.36037	0.0:0.7529:0.0:0.2471	.	1358	Q01118	SCN7A_HUMAN	H	1358	ENSP00000386796:R1358H	ENSP00000259060:R1358H	R	-	2	0	SCN7A	166971312	0.999000	0.42202	0.992000	0.48379	0.827000	0.46813	3.871000	0.56077	0.958000	0.37956	0.655000	0.94253	CGT	SCN7A	-	pfam_Ion_trans_dom	ENSG00000136546		0.468	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN7A	HGNC	protein_coding	OTTHUMT00000333745.1	26	0.00	0	C			167263066	167263066	-1	no_errors	ENST00000409855	ensembl	human	known	69_37n	missense	11	26.67	4	SNP	0.996	T
SLC29A2	3177	genome.wustl.edu	37	11	66136839	66136839	+	Splice_Site	DEL	C	C	-			TCGA-A1-A0SG-01A-11D-A142-09	TCGA-A1-A0SG-10B-01D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	39642c6d-9191-4746-8a9d-62d437bfdce8	cd67f058-5ac6-427c-8b3d-d5732ca6683e	g.chr11:66136839delC	ENST00000357440.2	-	3	504		c.e3+1		SLC29A2_ENST00000311161.7_Splice_Site|SLC29A2_ENST00000544554.1_Splice_Site|SLC29A2_ENST00000546034.1_Splice_Site	NM_001532.2	NP_001523.2	Q14542	S29A2_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 2						cell proliferation (GO:0008283)|nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			breast(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10					Didanosine(DB00900)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Zalcitabine(DB00943)|Zidovudine(DB00495)	AGGCCTCTCACCACTGGTACA	0.662																																						dbGAP											0													101.0	91.0	94.0					11																	66136839		2200	4295	6495	-	-	-	SO:0001630	splice_region_variant	0			X86681	CCDS8137.1, CCDS73326.1	11q13	2013-07-17	2013-07-17		ENSG00000174669	ENSG00000174669		"""Solute carriers"""	11004	protein-coding gene	gene with protein product		602110	"""solute carrier family 29 (nucleoside transporters), member 2"""	ENT2, HNP36		9192854, 9478986	Standard	NM_001532		Approved	DER12	uc001oht.3	Q14542	OTTHUMG00000169056	ENST00000357440.2:c.275+1G>-	11.37:g.66136839delC		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KPY7|O43530|Q52M84|Q96R00|Q9UPE0	Splice_Site	DEL	-	e3+1	ENST00000357440.2	37	c.275+1	CCDS8137.1	11																																																																																			SLC29A2	-	-	ENSG00000174669		0.662	SLC29A2-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC29A2	HGNC	protein_coding	OTTHUMT00000402093.1	43	0.00	0	C	NM_001532	Intron	66136839	66136839	-1	no_errors	ENST00000357440	ensembl	human	known	69_37n	splice_site_del	12	14.29	2	DEL	1.000	-
SYNPO2L	79933	genome.wustl.edu	37	10	75406545	75406545	+	Silent	SNP	C	C	T			TCGA-A1-A0SG-01A-11D-A142-09	TCGA-A1-A0SG-10B-01D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	39642c6d-9191-4746-8a9d-62d437bfdce8	cd67f058-5ac6-427c-8b3d-d5732ca6683e	g.chr10:75406545C>T	ENST00000394810.2	-	4	3014	c.2865G>A	c.(2863-2865)agG>agA	p.R955R	SYNPO2L_ENST00000372873.4_Silent_p.R731R	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	955						cytoskeleton (GO:0005856)|nucleus (GO:0005634)|Z disc (GO:0030018)				breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					AAAATCGGGGCCTGGCTACCT	0.637																																						dbGAP											0													63.0	70.0	68.0					10																	75406545		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK022983	CCDS7331.1, CCDS44438.1	10q22.3	2007-12-19			ENSG00000166317	ENSG00000166317			23532	protein-coding gene	gene with protein product							Standard	XM_005270158		Approved	FLJ12921	uc001jut.4	Q9H987	OTTHUMG00000018471	ENST00000394810.2:c.2865G>A	10.37:g.75406545C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A5PKV9|Q68A20	Silent	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.R955	ENST00000394810.2	37	c.2865	CCDS44438.1	10																																																																																			SYNPO2L	-	NULL	ENSG00000166317		0.637	SYNPO2L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNPO2L	HGNC	protein_coding	OTTHUMT00000316562.2	51	0.00	0	C	NM_024875		75406545	75406545	-1	no_errors	ENST00000394810	ensembl	human	known	69_37n	silent	19	29.63	8	SNP	1.000	T
TMEM99	147184	genome.wustl.edu	37	17	38991201	38991201	+	Missense_Mutation	SNP	G	G	A			TCGA-A1-A0SG-01A-11D-A142-09	TCGA-A1-A0SG-10B-01D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	39642c6d-9191-4746-8a9d-62d437bfdce8	cd67f058-5ac6-427c-8b3d-d5732ca6683e	g.chr17:38991201G>A	ENST00000301665.3	+	3	737	c.433G>A	c.(433-435)Gtt>Att	p.V145I		NM_001195386.1|NM_001195387.1|NM_145274.3	NP_001182315.1|NP_001182316.1|NP_660317.2	Q8N816	TMM99_HUMAN	transmembrane protein 99	145						integral component of membrane (GO:0016021)				cervix(1)|large_intestine(1)|lung(5)|skin(2)|urinary_tract(1)	10		Breast(137;0.000301)				TGGGCCTGGAGTTCCAGTTCC	0.522																																						dbGAP											0													154.0	152.0	153.0					17																	38991201		1985	4181	6166	-	-	-	SO:0001583	missense	0			AK097454	CCDS42319.1	17q21.2	2008-11-06			ENSG00000167920	ENSG00000167920			28305	protein-coding gene	gene with protein product						12477932	Standard	NM_001195386		Approved	MGC21518	uc021txc.1	Q8N816	OTTHUMG00000133579	ENST00000301665.3:c.433G>A	17.37:g.38991201G>A	ENSP00000301665:p.Val145Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DQ34|Q96BP9	Missense_Mutation	SNP	NULL	p.V145I	ENST00000301665.3	37	c.433	CCDS42319.1	17	.	.	.	.	.	.	.	.	.	.	G	8.398	0.841341	0.16891	.	.	ENSG00000167920	ENST00000436612;ENST00000301665	T;T	0.27557	1.66;1.66	3.91	2.91	0.33838	.	.	.	.	.	T	0.18635	0.0447	N	0.08118	0	0.09310	N	1	P	0.41450	0.75	B	0.41813	0.367	T	0.09037	-1.0693	9	0.87932	D	0	.	9.5041	0.39035	0.0:0.2165:0.7835:0.0	.	145	Q8N816	TMM99_HUMAN	I	145	ENSP00000390036:V145I;ENSP00000301665:V145I	ENSP00000301665:V145I	V	+	1	0	TMEM99	36244727	0.078000	0.21339	0.002000	0.10522	0.003000	0.03518	2.562000	0.45914	0.979000	0.38497	-0.175000	0.13238	GTT	TMEM99	-	NULL	ENSG00000167920		0.522	TMEM99-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM99	HGNC	protein_coding	OTTHUMT00000257681.1	101	0.00	0	G	NM_145274		38991201	38991201	+1	no_errors	ENST00000301665	ensembl	human	known	69_37n	missense	33	21.43	9	SNP	0.003	A
TYSND1	219743	genome.wustl.edu	37	10	71905831	71905831	+	Missense_Mutation	SNP	G	G	A			TCGA-A1-A0SG-01A-11D-A142-09	TCGA-A1-A0SG-10B-01D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	39642c6d-9191-4746-8a9d-62d437bfdce8	cd67f058-5ac6-427c-8b3d-d5732ca6683e	g.chr10:71905831G>A	ENST00000287078.6	-	1	511	c.512C>T	c.(511-513)tCg>tTg	p.S171L	TYSND1_ENST00000494143.1_5'Flank|TYSND1_ENST00000335494.5_Missense_Mutation_p.S171L	NM_173555.2	NP_775826.2	Q2T9J0	TYSD1_HUMAN	trypsin domain containing 1	171					protein homooligomerization (GO:0051260)|protein processing (GO:0016485)|proteolysis (GO:0006508)|regulation of fatty acid beta-oxidation (GO:0031998)	membrane (GO:0016020)|peroxisome (GO:0005777)	identical protein binding (GO:0042802)|protease binding (GO:0002020)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(2)|liver(1)|lung(3)|prostate(1)	9						CTCGTCCTCCGACACTTCGTC	0.706																																						dbGAP											0													21.0	22.0	21.0					10																	71905831		2198	4286	6484	-	-	-	SO:0001583	missense	0			BC016840	CCDS31213.1, CCDS31214.1	10q22.1	2009-11-06		2006-09-21	ENSG00000156521	ENSG00000156521			28531	protein-coding gene	gene with protein product		611017				17255948	Standard	NM_173555		Approved	MGC34695, NET41	uc001jqr.4	Q2T9J0	OTTHUMG00000018397	ENST00000287078.6:c.512C>T	10.37:g.71905831G>A	ENSP00000287078:p.Ser171Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5SQT4|Q5SQU1|Q8N6H2|Q96AR5	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,pirsf_Pept_S1A_Tysnd1	p.S171L	ENST00000287078.6	37	c.512	CCDS31213.1	10	.	.	.	.	.	.	.	.	.	.	G	7.585	0.669641	0.14776	.	.	ENSG00000156521	ENST00000287078;ENST00000335494	T;T	0.67698	-0.28;-0.28	3.93	3.02	0.34903	.	0.678025	0.14678	N	0.304895	T	0.56366	0.1980	L	0.46157	1.445	0.27048	N	0.963858	B;B	0.17465	0.022;0.004	B;B	0.10450	0.005;0.002	T	0.50533	-0.8817	10	0.44086	T	0.13	-22.5129	7.826	0.29315	0.1182:0.0:0.8818:0.0	.	171;171	Q2T9J0-2;Q2T9J0	.;TYSD1_HUMAN	L	171	ENSP00000287078:S171L;ENSP00000335673:S171L	ENSP00000287078:S171L	S	-	2	0	TYSND1	71575837	0.979000	0.34478	0.847000	0.33407	0.040000	0.13550	2.413000	0.44618	0.975000	0.38392	-0.657000	0.03884	TCG	TYSND1	-	pirsf_Pept_S1A_Tysnd1	ENSG00000156521		0.706	TYSND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYSND1	HGNC	protein_coding	OTTHUMT00000048483.1	23	0.00	0	G	NM_173555		71905831	71905831	-1	no_errors	ENST00000287078	ensembl	human	known	69_37n	missense	8	33.33	4	SNP	0.970	A
ZNF217	7764	genome.wustl.edu	37	20	52192368	52192368	+	Missense_Mutation	SNP	C	C	A			TCGA-A1-A0SG-01A-11D-A142-09	TCGA-A1-A0SG-10B-01D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	39642c6d-9191-4746-8a9d-62d437bfdce8	cd67f058-5ac6-427c-8b3d-d5732ca6683e	g.chr20:52192368C>A	ENST00000371471.2	-	4	3360	c.2935G>T	c.(2935-2937)Gat>Tat	p.D979Y	RP4-724E16.2_ENST00000424252.1_RNA|ZNF217_ENST00000302342.3_Missense_Mutation_p.D979Y			O75362	ZN217_HUMAN	zinc finger protein 217	979					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			TTTGGAGAATCGACCTCGCTG	0.557																																						dbGAP											0													103.0	87.0	93.0					20																	52192368		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF041259	CCDS13443.1	20q13.2	2013-01-08			ENSG00000171940	ENSG00000171940		"""Zinc fingers, C2H2-type"""	13009	protein-coding gene	gene with protein product		602967				9671742	Standard	NM_006526		Approved	ZABC1	uc002xwq.4	O75362	OTTHUMG00000032764	ENST00000371471.2:c.2935G>T	20.37:g.52192368C>A	ENSP00000360526:p.Asp979Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	E1P5Y6|Q14DB8	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D979Y	ENST00000371471.2	37	c.2935	CCDS13443.1	20	.	.	.	.	.	.	.	.	.	.	C	16.24	3.067741	0.55539	.	.	ENSG00000171940	ENST00000371471;ENST00000302342;ENST00000437222;ENST00000395971	T;T	0.11821	2.74;2.74	4.79	4.79	0.61399	.	0.658399	0.15227	N	0.273655	T	0.19644	0.0472	L	0.38175	1.15	0.09310	N	0.999999	D	0.53885	0.963	P	0.53649	0.731	T	0.05386	-1.0888	10	0.66056	D	0.02	-13.8836	10.3195	0.43758	0.0:0.9067:0.0:0.0933	.	979	O75362	ZN217_HUMAN	Y	979;979;67;139	ENSP00000360526:D979Y;ENSP00000304308:D979Y	ENSP00000304308:D979Y	D	-	1	0	ZNF217	51625775	0.971000	0.33674	0.023000	0.16930	0.005000	0.04900	4.348000	0.59379	2.208000	0.71279	0.650000	0.86243	GAT	ZNF217	-	NULL	ENSG00000171940		0.557	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF217	HGNC	protein_coding	OTTHUMT00000079757.2	71	0.00	0	C	NM_006526		52192368	52192368	-1	no_errors	ENST00000302342	ensembl	human	known	69_37n	missense	27	34.15	14	SNP	0.121	A
