#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
ARHGEF33	100271715	genome.wustl.edu	37	2	39199061	39199061	+	Silent	SNP	G	G	A			TCGA-A7-A13G-01A-11D-A13L-09	TCGA-A7-A13G-11A-51D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ef847b83-eb88-435b-bcfd-4b51d4dfa5fe	7eaacabd-76fe-4080-9e1c-7277bffe8b89	g.chr2:39199061G>A	ENST00000536934.1	+	16	2619	c.2534G>A	c.(2533-2535)tGa>tAa	p.*845*	ARHGEF33_ENST00000398800.4_Intron|ARHGEF33_ENST00000409978.1_Intron			A8MVX0	ARG33_HUMAN	Rho guanine nucleotide exchange factor (GEF) 33	0							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(3)|pancreas(1)|prostate(1)	5						GGCTGGTGGTGACATCAAAGC	0.418																																						dbGAP											0													217.0	183.0	193.0					2																	39199061		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0				CCDS46263.1, CCDS46263.2	2p22.1	2012-07-24			ENSG00000214694	ENSG00000214694		"""Rho guanine nucleotide exchange factors"""	37252	protein-coding gene	gene with protein product							Standard	NM_001145451		Approved		uc021vgd.1	A8MVX0	OTTHUMG00000153540	ENST00000536934.1:c.2534G>A	2.37:g.39199061G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	J3KPX2	Silent	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_Prefoldin,smart_DH-domain,pfscan_DH-domain	p.*845	ENST00000536934.1	37	c.2534		2																																																																																			ARHGEF33	-	NULL	ENSG00000214694		0.418	ARHGEF33-202	KNOWN	basic	protein_coding	ARHGEF33	HGNC	protein_coding		187	0.00	0	G	NM_001145451		39199061	39199061	+1	no_errors	ENST00000536934	ensembl	human	known	69_37n	silent	71	45.38	59	SNP	1.000	A
ASAH2B	653308	genome.wustl.edu	37	10	52502735	52502735	+	Silent	SNP	C	C	T			TCGA-A7-A13G-01A-11D-A13L-09	TCGA-A7-A13G-11A-51D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ef847b83-eb88-435b-bcfd-4b51d4dfa5fe	7eaacabd-76fe-4080-9e1c-7277bffe8b89	g.chr10:52502735C>T	ENST00000374006.1	+	2	116	c.51C>T	c.(49-51)ttC>ttT	p.F17F	ASAH2B_ENST00000483649.1_3'UTR|ASAH2B_ENST00000374007.1_5'UTR|ASAH2B_ENST00000185907.9_5'UTR	NM_001079516.1	NP_001072984.1	P0C7U1	ASA2B_HUMAN	N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2B	17										large_intestine(2)|lung(2)	4						TGCTTACATTCAGCTCTTCAG	0.463																																						dbGAP											0													306.0	269.0	282.0					10																	52502735		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BI553338	CCDS31203.1	10q11.23	2010-05-04			ENSG00000204147	ENSG00000204147			23456	protein-coding gene	gene with protein product		610987				17334805	Standard	NM_001079516		Approved	bA449O16.3, ASAH2L	uc001jjg.4	P0C7U1	OTTHUMG00000018239	ENST00000374006.1:c.51C>T	10.37:g.52502735C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z261	Silent	SNP	pfam_Ceramidase_alk	p.F17	ENST00000374006.1	37	c.51	CCDS31203.1	10																																																																																			ASAH2B	-	NULL	ENSG00000204147		0.463	ASAH2B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASAH2B	HGNC	protein_coding	OTTHUMT00000048084.1	318	0.00	0	C			52502735	52502735	+1	no_errors	ENST00000374006	ensembl	human	known	69_37n	silent	86	44.94	71	SNP	1.000	T
CD163L1	283316	genome.wustl.edu	37	12	7550864	7550864	+	Silent	SNP	G	G	A			TCGA-A7-A13G-01A-11D-A13L-09	TCGA-A7-A13G-11A-51D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ef847b83-eb88-435b-bcfd-4b51d4dfa5fe	7eaacabd-76fe-4080-9e1c-7277bffe8b89	g.chr12:7550864G>A	ENST00000313599.3	-	7	1782	c.1725C>T	c.(1723-1725)tgC>tgT	p.C575C	CD163L1_ENST00000396630.1_Silent_p.C575C|CD163L1_ENST00000416109.2_Silent_p.C585C			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	575	SRCR 5. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TCTTACCTGAGCAGGTTACAA	0.398																																						dbGAP											0													144.0	140.0	142.0					12																	7550864		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.1725C>T	12.37:g.7550864G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Silent	SNP	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt	p.C575	ENST00000313599.3	37	c.1725	CCDS8577.1	12																																																																																			CD163L1	-	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt	ENSG00000177675		0.398	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CD163L1	HGNC	protein_coding	OTTHUMT00000399329.1	128	0.00	0	G	NM_174941		7550864	7550864	-1	no_errors	ENST00000313599	ensembl	human	known	69_37n	silent	59	41.58	42	SNP	0.998	A
CDC25C	995	genome.wustl.edu	37	5	137666850	137666850	+	Missense_Mutation	SNP	G	G	A			TCGA-A7-A13G-01A-11D-A13L-09	TCGA-A7-A13G-11A-51D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ef847b83-eb88-435b-bcfd-4b51d4dfa5fe	7eaacabd-76fe-4080-9e1c-7277bffe8b89	g.chr5:137666850G>A	ENST00000323760.6	-	2	298	c.20C>T	c.(19-21)tCa>tTa	p.S7L	CDC25C_ENST00000514555.1_Missense_Mutation_p.S7L|CDC25C_ENST00000356505.3_Missense_Mutation_p.S7L|CDC25C_ENST00000348983.3_Missense_Mutation_p.S7L|CDC25C_ENST00000415130.2_Missense_Mutation_p.S7L|CDC25C_ENST00000513970.1_Missense_Mutation_p.S7L|CDC25C_ENST00000357274.3_Missense_Mutation_p.S7L	NM_001790.3	NP_001781.2	P30307	MPIP3_HUMAN	cell division cycle 25C	7					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|peptidyl-tyrosine dephosphorylation (GO:0035335)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|WW domain binding (GO:0050699)			endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			TCTTGTGGATGAGAAGAGTTC	0.448																																						dbGAP											0													75.0	73.0	73.0					5																	137666850		2203	4300	6503	-	-	-	SO:0001583	missense	0			M34065	CCDS4202.1, CCDS4203.1	5q31	2013-01-17	2013-01-17		ENSG00000158402	ENSG00000158402		"""Protein tyrosine phosphatases / Class III Cys-based PTPs"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1727	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 60"""	157680	"""cell division cycle 25C"", ""cell division cycle 25 homolog C (S. cerevisiae)"", ""cell division cycle 25 homolog C (S. pombe)"""	CDC25		1703321	Standard	XM_005272145		Approved	PPP1R60	uc003lcp.1	P30307	OTTHUMG00000129203	ENST00000323760.6:c.20C>T	5.37:g.137666850G>A	ENSP00000321656:p.Ser7Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DQB8|Q96PL3|Q9H168|Q9H2E8|Q9H2E9|Q9H2F1	Missense_Mutation	SNP	pfam_MPI_Phosphatase,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom,prints_MPI_Phosphatase	p.S7L	ENST00000323760.6	37	c.20	CCDS4202.1	5	.	.	.	.	.	.	.	.	.	.	G	14.27	2.486453	0.44249	.	.	ENSG00000158402	ENST00000323760;ENST00000356505;ENST00000357274;ENST00000348983;ENST00000415130;ENST00000513970;ENST00000534892;ENST00000514555;ENST00000503022;ENST00000510119	T;T;T;T;T;T;T;T;T	0.26957	2.35;2.32;1.7;1.71;1.71;2.35;2.32;1.71;1.86	4.47	4.47	0.54385	.	1.166430	0.06449	N	0.727385	T	0.40272	0.1110	L	0.51422	1.61	0.09310	N	1	D;D;D;D;P;D	0.58620	0.982;0.971;0.983;0.982;0.95;0.969	P;P;P;P;P;P	0.56612	0.745;0.714;0.725;0.802;0.625;0.561	T	0.22800	-1.0206	10	0.20519	T	0.43	-2.2845	12.8626	0.57922	0.0:0.0:1.0:0.0	.	24;7;24;7;7;7	G3V1P6;P30307-3;B4DX61;P30307-2;P30307-4;P30307	.;.;.;.;.;MPIP3_HUMAN	L	7;7;7;7;7;7;24;7;7;24	ENSP00000321656:S7L;ENSP00000348898:S7L;ENSP00000349821:S7L;ENSP00000345205:S7L;ENSP00000392631:S7L;ENSP00000424795:S7L;ENSP00000425470:S7L;ENSP00000427251:S7L;ENSP00000427105:S24L	ENSP00000321656:S7L	S	-	2	0	CDC25C	137694749	0.050000	0.20438	0.033000	0.17914	0.569000	0.35902	2.833000	0.48159	2.481000	0.83766	0.655000	0.94253	TCA	CDC25C	-	NULL	ENSG00000158402		0.448	CDC25C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC25C	HGNC	protein_coding	OTTHUMT00000251280.1	80	0.00	0	G			137666850	137666850	-1	no_errors	ENST00000323760	ensembl	human	known	69_37n	missense	46	38.67	29	SNP	0.084	A
CEP85L	387119	genome.wustl.edu	37	6	118953648	118953648	+	Missense_Mutation	SNP	C	C	G			TCGA-A7-A13G-01A-11D-A13L-09	TCGA-A7-A13G-11A-51D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ef847b83-eb88-435b-bcfd-4b51d4dfa5fe	7eaacabd-76fe-4080-9e1c-7277bffe8b89	g.chr6:118953648C>G	ENST00000368491.3	-	2	821	c.200G>C	c.(199-201)gGc>gCc	p.G67A	CEP85L_ENST00000360290.3_5'UTR|CEP85L_ENST00000368488.5_Missense_Mutation_p.G70A|CEP85L_ENST00000392500.3_Missense_Mutation_p.G70A|CEP85L_ENST00000419517.2_Missense_Mutation_p.G67A	NM_001042475.2	NP_001035940.1	Q5SZL2	CE85L_HUMAN	centrosomal protein 85kDa-like	67						centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.G67V(1)									AGTTCCAATGCCAGTGTCTCC	0.408																																						dbGAP											1	Substitution - Missense(1)	lung(1)											110.0	100.0	103.0					6																	118953648		1872	4130	6002	-	-	-	SO:0001583	missense	0			AF308284	CCDS5119.2, CCDS43498.1, CCDS55052.1	6q22.31	2011-11-25	2011-11-25	2011-11-25	ENSG00000111860	ENSG00000111860			21638	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 204"""	C6orf204			Standard	NM_206921		Approved	NY-BR-15, bA57K17.2	uc003pya.2	Q5SZL2	OTTHUMG00000015465	ENST00000368491.3:c.200G>C	6.37:g.118953648C>G	ENSP00000357477:p.Gly67Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A1A4E1|A2A3P2|A2IDE5|F8W6J2|G3V0H3|Q2TAM2|Q5T323|Q7Z5K7|Q9H289	Missense_Mutation	SNP	NULL	p.G70A	ENST00000368491.3	37	c.209	CCDS43498.1	6	.	.	.	.	.	.	.	.	.	.	C	13.98	2.399430	0.42512	.	.	ENSG00000111860	ENST00000368491;ENST00000368488;ENST00000434604;ENST00000392500;ENST00000419517	T;T;T;T;T	0.26660	1.72;1.72;1.72;1.72;1.72	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.23094	0.0558	N	0.11560	0.145	0.50039	D	0.999842	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.16276	-1.0408	10	0.21014	T	0.42	-10.7521	20.1012	0.97876	0.0:1.0:0.0:0.0	.	70;67;70;67	Q5SZL2-2;G3V0H3;F8W6J2;Q5SZL2	.;.;.;CF204_HUMAN	A	67;70;70;70;67	ENSP00000357477:G67A;ENSP00000357474:G70A;ENSP00000392131:G70A;ENSP00000376288:G70A;ENSP00000393317:G67A	ENSP00000357474:G70A	G	-	2	0	C6orf204	119060341	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.685000	0.68204	2.754000	0.94517	0.650000	0.86243	GGC	CEP85L	-	NULL	ENSG00000111860		0.408	CEP85L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP85L	HGNC	protein_coding	OTTHUMT00000041996.2	96	0.00	0	C	NM_001042475		118953648	118953648	-1	no_errors	ENST00000368488	ensembl	human	known	69_37n	missense	33	36.54	19	SNP	1.000	G
CHD7	55636	genome.wustl.edu	37	8	61777594	61777594	+	Missense_Mutation	SNP	T	T	A			TCGA-A7-A13G-01A-11D-A13L-09	TCGA-A7-A13G-11A-51D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ef847b83-eb88-435b-bcfd-4b51d4dfa5fe	7eaacabd-76fe-4080-9e1c-7277bffe8b89	g.chr8:61777594T>A	ENST00000423902.2	+	38	8575	c.8096T>A	c.(8095-8097)aTg>aAg	p.M2699K	CHD7_ENST00000524602.1_Missense_Mutation_p.M650K	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2699					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CCTGAGTCGATGTTTGACCGC	0.567																																						dbGAP											0													11.0	12.0	12.0					8																	61777594		1989	4161	6150	-	-	-	SO:0001583	missense	0			AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.8096T>A	8.37:g.61777594T>A	ENSP00000392028:p.Met2699Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.M2699K	ENST00000423902.2	37	c.8096	CCDS47865.1	8	.	.	.	.	.	.	.	.	.	.	T	18.59	3.657840	0.67586	.	.	ENSG00000171316	ENST00000307121;ENST00000423902;ENST00000524602	T;T	0.38722	1.12;1.12	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.49949	0.1587	N	0.25647	0.755	0.80722	D	1	P	0.50156	0.932	P	0.61397	0.888	T	0.51132	-0.8744	10	0.52906	T	0.07	-20.7042	15.7111	0.77629	0.0:0.0:0.0:1.0	.	2699	Q9P2D1	CHD7_HUMAN	K	2699;2699;650	ENSP00000392028:M2699K;ENSP00000437061:M650K	ENSP00000307304:M2699K	M	+	2	0	CHD7	61940148	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	7.539000	0.82063	2.111000	0.64477	0.482000	0.46254	ATG	CHD7	-	NULL	ENSG00000171316		0.567	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD7	HGNC	protein_coding	OTTHUMT00000383468.2	20	0.00	0	T	XM_098762		61777594	61777594	+1	no_errors	ENST00000307121	ensembl	human	known	69_37n	missense	5	61.54	8	SNP	1.000	A
CSN1S1	1446	genome.wustl.edu	37	4	70810640	70810640	+	Missense_Mutation	SNP	G	G	A			TCGA-A7-A13G-01A-11D-A13L-09	TCGA-A7-A13G-11A-51D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ef847b83-eb88-435b-bcfd-4b51d4dfa5fe	7eaacabd-76fe-4080-9e1c-7277bffe8b89	g.chr4:70810640G>A	ENST00000246891.4	+	15	524	c.475G>A	c.(475-477)Gtt>Att	p.V159I	CSN1S1_ENST00000444405.3_Missense_Mutation_p.V150I|CSN1S1_ENST00000507763.1_Missense_Mutation_p.V150I|CSN1S1_ENST00000507772.1_Missense_Mutation_p.V151I|CSN1S1_ENST00000505782.1_Missense_Mutation_p.V143I	NM_001890.1	NP_001881.1	P47710	CASA1_HUMAN	casein alpha s1	159						extracellular region (GO:0005576)|extracellular space (GO:0005615)	transporter activity (GO:0005215)			lung(5)|prostate(1)|upper_aerodigestive_tract(1)	7						CATGCAGTATGTTCCTTTCCC	0.408																																						dbGAP											0													344.0	329.0	334.0					4																	70810640		1956	4145	6101	-	-	-	SO:0001583	missense	0			X78416	CCDS47067.1, CCDS54769.1	4q21.1	2014-02-19	2003-01-24	2003-01-31	ENSG00000126545	ENSG00000126545			2445	protein-coding gene	gene with protein product		115450	"""casein, alpha"""	CASA, CSN1		9050925, 7619062	Standard	NM_001890		Approved		uc003hep.1	P47710	OTTHUMG00000160843	ENST00000246891.4:c.475G>A	4.37:g.70810640G>A	ENSP00000246891:p.Val159Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A1A510|A1A511|E9PB60|Q4PNR5	Missense_Mutation	SNP	NULL	p.V159I	ENST00000246891.4	37	c.475	CCDS47067.1	4	.	.	.	.	.	.	.	.	.	.	G	2.789	-0.251682	0.05867	.	.	ENSG00000126545	ENST00000246891;ENST00000444405;ENST00000354865;ENST00000507763;ENST00000507772;ENST00000505782;ENST00000510936	T;T;T;T;T;T	0.52057	0.84;0.84;0.84;0.84;0.84;0.68	4.28	-8.56	0.00904	.	2.384090	0.01711	N	0.027700	T	0.24275	0.0588	N	0.11927	0.2	0.21064	N	0.999797	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.13764	-1.0497	9	0.14656	T	0.56	0.2828	8.0946	0.30820	0.364:0.4169:0.2191:0.0	.	151;150;159	E9PDQ1;E9PB60;P47710	.;.;CASA1_HUMAN	I	159;150;151;150;151;143;50	ENSP00000246891:V159I;ENSP00000413157:V150I;ENSP00000422611:V150I;ENSP00000427490:V151I;ENSP00000426684:V143I;ENSP00000421314:V50I	ENSP00000246891:V159I	V	+	1	0	CSN1S1	70845229	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.260000	0.00264	-2.243000	0.00707	-2.257000	0.00281	GTT	CSN1S1	-	NULL	ENSG00000126545		0.408	CSN1S1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CSN1S1	HGNC	protein_coding	OTTHUMT00000362629.1	281	0.35	1	G			70810640	70810640	+1	no_errors	ENST00000246891	ensembl	human	known	69_37n	missense	83	43.15	63	SNP	0.000	A
DHTKD1	55526	genome.wustl.edu	37	10	12111089	12111089	+	Silent	SNP	C	C	G			TCGA-A7-A13G-01A-11D-A13L-09	TCGA-A7-A13G-11A-51D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ef847b83-eb88-435b-bcfd-4b51d4dfa5fe	7eaacabd-76fe-4080-9e1c-7277bffe8b89	g.chr10:12111089C>G	ENST00000263035.4	+	1	119	c.57C>G	c.(55-57)ctC>ctG	p.L19L		NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	19					cell death (GO:0008219)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hematopoietic progenitor cell differentiation (GO:0002244)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			CTCTCCCTCTCTTCTGGCGTG	0.716																																						dbGAP											0													16.0	22.0	20.0					10																	12111089		2190	4285	6475	-	-	-	SO:0001819	synonymous_variant	0			BC002477	CCDS7087.1	10p14	2003-11-24			ENSG00000181192	ENSG00000181192			23537	protein-coding gene	gene with protein product		614984				10997877	Standard	NM_018706		Approved	KIAA1630, MGC3090, DKFZP762M115	uc001ild.5	Q96HY7	OTTHUMG00000017677	ENST00000263035.4:c.57C>G	10.37:g.12111089C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q68CU5|Q9BUM8|Q9HCE2	Silent	SNP	pfam_Transketolase-like_Pyr-bd,pfam_DH_E1,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1	p.L19	ENST00000263035.4	37	c.57	CCDS7087.1	10																																																																																			DHTKD1	-	pirsf_2oxoglutarate_DH_E1	ENSG00000181192		0.716	DHTKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHTKD1	HGNC	protein_coding	OTTHUMT00000046777.1	16	0.00	0	C	NM_018706		12111089	12111089	+1	no_errors	ENST00000263035	ensembl	human	known	69_37n	silent	8	42.86	6	SNP	0.000	G
DYSF	8291	genome.wustl.edu	37	2	71891541	71891541	+	Missense_Mutation	SNP	G	G	T	rs138472236		TCGA-A7-A13G-01A-11D-A13L-09	TCGA-A7-A13G-11A-51D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ef847b83-eb88-435b-bcfd-4b51d4dfa5fe	7eaacabd-76fe-4080-9e1c-7277bffe8b89	g.chr2:71891541G>T	ENST00000258104.3	+	45	5307	c.5030G>T	c.(5029-5031)cGc>cTc	p.R1677L	DYSF_ENST00000409762.1_Missense_Mutation_p.R1694L|DYSF_ENST00000409744.1_Missense_Mutation_p.R1685L|DYSF_ENST00000409582.3_Missense_Mutation_p.R1715L|DYSF_ENST00000409366.1_Missense_Mutation_p.R1699L|DYSF_ENST00000410020.3_Missense_Mutation_p.R1716L|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000394120.2_Missense_Mutation_p.R1678L|DYSF_ENST00000409651.1_Missense_Mutation_p.R1709L|DYSF_ENST00000429174.2_Missense_Mutation_p.R1698L|DYSF_ENST00000410041.1_Missense_Mutation_p.R1695L|DYSF_ENST00000413539.2_Missense_Mutation_p.R1708L	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1677					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						TTTGGGGCTCGCTGTGGACTC	0.557																																						dbGAP											0													86.0	74.0	78.0					2																	71891541		2203	4300	6503	-	-	-	SO:0001583	missense	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.5030G>T	2.37:g.71891541G>T	ENSP00000258104:p.Arg1677Leu	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	Missense_Mutation	SNP	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.R1708L	ENST00000258104.3	37	c.5123	CCDS1918.1	2	.	.	.	.	.	.	.	.	.	.	G	13.90	2.376521	0.42105	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	D;D;D;D;D;D;D;D;D;D;D	0.83075	-1.68;-1.68;-1.68;-1.67;-1.68;-1.68;-1.68;-1.67;-1.67;-1.68;-1.68	5.13	5.13	0.70059	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.227351	0.43260	D	0.000584	T	0.75117	0.3806	L	0.37850	1.14	0.47276	D	0.999376	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.24533	0.014;0.105;0.105;0.039;0.039;0.005;0.005;0.009;0.024;0.105;0.006;0.006;0.039;0.039;0.023	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.23574	0.027;0.047;0.047;0.047;0.047;0.013;0.013;0.013;0.021;0.047;0.01;0.006;0.047;0.047;0.021	T	0.69844	-0.5035	10	0.11485	T	0.65	-19.3257	16.0724	0.80943	0.0:0.0:1.0:0.0	.	441;1709;1716;1699;1664;1695;1685;1694;1684;1708;1715;1698;1663;1678;1677	B7Z8G4;O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	L	1708;1694;1715;1698;1677;1709;1678;1685;1699;1716;1695	ENSP00000407046:R1708L;ENSP00000387137:R1694L;ENSP00000386547:R1715L;ENSP00000398305:R1698L;ENSP00000258104:R1677L;ENSP00000386683:R1709L;ENSP00000377678:R1678L;ENSP00000386285:R1685L;ENSP00000386512:R1699L;ENSP00000386881:R1716L;ENSP00000386617:R1695L	ENSP00000258104:R1677L	R	+	2	0	DYSF	71745049	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.822000	0.48073	2.393000	0.81446	0.561000	0.74099	CGC	DYSF	-	superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep	ENSG00000135636		0.557	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DYSF	HGNC	protein_coding	OTTHUMT00000251970.3	43	0.00	0	G	NM_003494		71891541	71891541	+1	no_errors	ENST00000413539	ensembl	human	known	69_37n	missense	33	10.81	4	SNP	1.000	T
FAT3	120114	genome.wustl.edu	37	11	92531298	92531298	+	Missense_Mutation	SNP	G	G	T			TCGA-A7-A13G-01A-11D-A13L-09	TCGA-A7-A13G-11A-51D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ef847b83-eb88-435b-bcfd-4b51d4dfa5fe	7eaacabd-76fe-4080-9e1c-7277bffe8b89	g.chr11:92531298G>T	ENST00000298047.6	+	9	5136	c.5119G>T	c.(5119-5121)Gat>Tat	p.D1707Y	FAT3_ENST00000409404.2_Missense_Mutation_p.D1707Y|FAT3_ENST00000525166.1_Missense_Mutation_p.D1557Y			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1707	Cadherin 15. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGAAGTCAAAGATGGAGACAT	0.393										TCGA Ovarian(4;0.039)																												dbGAP											0													111.0	110.0	110.0					11																	92531298		1947	4131	6078	-	-	-	SO:0001583	missense	0			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.5119G>T	11.37:g.92531298G>T	ENSP00000298047:p.Asp1707Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B5MDB0|Q96AU6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_Laminin_G,smart_EGF-like_Ca-bd,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin	p.D1707Y	ENST00000298047.6	37	c.5119		11	.	.	.	.	.	.	.	.	.	.	G	19.45	3.830720	0.71258	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.62498	0.02;0.02;0.02	5.93	5.93	0.95920	.	.	.	.	.	T	0.70219	0.3199	M	0.76838	2.35	0.80722	D	1	P	0.43519	0.809	B	0.42771	0.397	T	0.74662	-0.3590	9	0.87932	D	0	.	20.3334	0.98727	0.0:0.0:1.0:0.0	.	1707	Q8TDW7-3	.	Y	1707;1707;1557	ENSP00000298047:D1707Y;ENSP00000387040:D1707Y;ENSP00000432586:D1557Y	ENSP00000298047:D1707Y	D	+	1	0	FAT3	92170946	1.000000	0.71417	1.000000	0.80357	0.710000	0.40934	4.825000	0.62708	2.818000	0.97014	0.591000	0.81541	GAT	FAT3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000165323		0.393	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding		90	0.00	0	G	NM_001008781		92531298	92531298	+1	no_errors	ENST00000298047	ensembl	human	known	69_37n	missense	30	50.00	30	SNP	1.000	T
FNDC1	84624	genome.wustl.edu	37	6	159635993	159635993	+	Silent	SNP	C	C	T			TCGA-A7-A13G-01A-11D-A13L-09	TCGA-A7-A13G-11A-51D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ef847b83-eb88-435b-bcfd-4b51d4dfa5fe	7eaacabd-76fe-4080-9e1c-7277bffe8b89	g.chr6:159635993C>T	ENST00000297267.9	+	5	677	c.477C>T	c.(475-477)aaC>aaT	p.N159N	FNDC1_ENST00000340366.6_Silent_p.N159N	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	159	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		AAGTGCCCAACAAGCCCTTGC	0.547																																						dbGAP											0													49.0	51.0	51.0					6																	159635993		2047	4186	6233	-	-	-	SO:0001819	synonymous_variant	0			AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.477C>T	6.37:g.159635993C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Nonsense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.Q118*	ENST00000297267.9	37	c.352	CCDS47512.1	6	.	.	.	.	.	.	.	.	.	.	C	9.619	1.133330	0.21041	.	.	ENSG00000164694	ENST00000329629	.	.	.	6.17	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-41.8961	10.1653	0.42877	0.1356:0.7959:0.0:0.0684	.	.	.	.	X	118	.	.	Q	+	1	0	FNDC1	159555981	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.477000	0.45180	1.630000	0.50440	0.655000	0.94253	CAA	FNDC1	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000164694		0.547	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNDC1	HGNC	protein_coding	OTTHUMT00000042897.3	62	0.00	0	C	NM_032532		159635993	159635993	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000329629	ensembl	human	novel	69_37n	nonsense	28	39.13	18	SNP	1.000	T
GBP5	115362	genome.wustl.edu	37	1	89732807	89732807	+	Missense_Mutation	SNP	T	T	C			TCGA-A7-A13G-01A-11D-A13L-09	TCGA-A7-A13G-11A-51D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ef847b83-eb88-435b-bcfd-4b51d4dfa5fe	7eaacabd-76fe-4080-9e1c-7277bffe8b89	g.chr1:89732807T>C	ENST00000370459.3	-	5	585	c.458A>G	c.(457-459)aAg>aGg	p.K153R	GBP5_ENST00000343435.5_Missense_Mutation_p.K153R|RP4-620F22.2_ENST00000437128.1_RNA			Q96PP8	GBP5_HUMAN	guanylate binding protein 5	153	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.					cytoplasm (GO:0005737)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		GTTTCTTGCCTTGAGCAGATC	0.458																																						dbGAP											0													113.0	101.0	105.0					1																	89732807		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF430642	CCDS722.1	1p22.2	2008-02-05			ENSG00000154451	ENSG00000154451			19895	protein-coding gene	gene with protein product		611467					Standard	NM_052942		Approved		uc001dnd.3	Q96PP8	OTTHUMG00000010006	ENST00000370459.3:c.458A>G	1.37:g.89732807T>C	ENSP00000359488:p.Lys153Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCE1|Q86TM5	Missense_Mutation	SNP	pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C	p.K153R	ENST00000370459.3	37	c.458	CCDS722.1	1	.	.	.	.	.	.	.	.	.	.	T	7.560	0.664600	0.14710	.	.	ENSG00000154451	ENST00000343435;ENST00000370459;ENST00000443807	T;T;T	0.73152	-0.72;-0.72;-0.72	4.61	-0.783	0.10958	Guanylate-binding protein, N-terminal (1);	0.701275	0.13672	N	0.370859	T	0.12860	0.0312	N	0.02973	-0.45	0.09310	N	1	B	0.10296	0.003	B	0.17979	0.02	T	0.36456	-0.9747	10	0.02654	T	1	-1.1172	3.8943	0.09133	0.1687:0.3568:0.0:0.4745	.	153	Q96PP8	GBP5_HUMAN	R	153	ENSP00000340396:K153R;ENSP00000359488:K153R;ENSP00000403010:K153R	ENSP00000340396:K153R	K	-	2	0	GBP5	89505395	0.001000	0.12720	0.007000	0.13788	0.786000	0.44442	-0.132000	0.10467	0.002000	0.14630	-0.505000	0.04504	AAG	GBP5	-	pfam_Guanylate-bd_N	ENSG00000154451		0.458	GBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBP5	HGNC	protein_coding	OTTHUMT00000027700.1	102	0.00	0	T	NM_052942		89732807	89732807	-1	no_errors	ENST00000343435	ensembl	human	known	69_37n	missense	42	48.78	40	SNP	0.003	C
GPT	2875	genome.wustl.edu	37	8	145730243	145730243	+	Silent	SNP	G	G	T			TCGA-A7-A13G-01A-11D-A13L-09	TCGA-A7-A13G-11A-51D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ef847b83-eb88-435b-bcfd-4b51d4dfa5fe	7eaacabd-76fe-4080-9e1c-7277bffe8b89	g.chr8:145730243G>T	ENST00000528431.1	+	4	499	c.342G>T	c.(340-342)gcG>gcT	p.A114A	GPT_ENST00000394955.2_Silent_p.A114A			P24298	ALAT1_HUMAN	glutamic-pyruvate transaminase (alanine aminotransferase)	114					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-alanine catabolic process (GO:0042853)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	L-alanine:2-oxoglutarate aminotransferase activity (GO:0004021)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		L-Alanine(DB00160)|Phenelzine(DB00780)	TCTTGCAGGCGTGTGGGGGCC	0.627																																						dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0				CCDS6430.1	8q24.3	2013-09-19			ENSG00000167701	ENSG00000167701	2.6.1.2		4552	protein-coding gene	gene with protein product		138200					Standard	NM_005309		Approved	ALT1, GPT1	uc003zdh.4	P24298	OTTHUMG00000165176	ENST00000528431.1:c.342G>T	8.37:g.145730243G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B0YJ18|D3DWM7|P78398|Q93076	Silent	SNP	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom,prints_ACC_synthase	p.A114	ENST00000528431.1	37	c.342	CCDS6430.1	8																																																																																			GPT	-	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom	ENSG00000167701		0.627	GPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPT	HGNC	protein_coding	OTTHUMT00000382471.1	49	0.00	0	G			145730243	145730243	+1	no_errors	ENST00000394955	ensembl	human	known	69_37n	silent	21	43.24	16	SNP	0.005	T
HRNR	388697	genome.wustl.edu	37	1	152189242	152189242	+	Silent	SNP	A	A	G	rs201431455	byFrequency	TCGA-A7-A13G-01A-11D-A13L-09	TCGA-A7-A13G-11A-51D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ef847b83-eb88-435b-bcfd-4b51d4dfa5fe	7eaacabd-76fe-4080-9e1c-7277bffe8b89	g.chr1:152189242A>G	ENST00000368801.2	-	3	4938	c.4863T>C	c.(4861-4863)tcT>tcC	p.S1621S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1621					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CACTGCTGGAAGACCGACCGG	0.617													A|||	889	0.177516	0.0257	0.2507	5008	,	,		40498	0.3393		0.0934	False		,,,				2504	0.2505					dbGAP											0													5.0	1.0	3.0					1																	152189242		485	613	1098	-	-	-	SO:0001819	synonymous_variant	0			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.4863T>C	1.37:g.152189242A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5DT20|Q5U1F4	Silent	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2	p.S1621	ENST00000368801.2	37	c.4863	CCDS30859.1	1																																																																																			HRNR	-	NULL	ENSG00000197915		0.617	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	HGNC	protein_coding	OTTHUMT00000034016.1	9	0.00	0	A	XM_373868		152189242	152189242	-1	no_errors	ENST00000368801	ensembl	human	known	69_37n	silent	10	47.37	9	SNP	0.190	G
KCNK4	50801	genome.wustl.edu	37	11	64064626	64064626	+	Missense_Mutation	SNP	C	C	T			TCGA-A7-A13G-01A-11D-A13L-09	TCGA-A7-A13G-11A-51D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ef847b83-eb88-435b-bcfd-4b51d4dfa5fe	7eaacabd-76fe-4080-9e1c-7277bffe8b89	g.chr11:64064626C>T	ENST00000539216.1	+	3	709	c.349C>T	c.(349-351)Cgc>Tgc	p.R117C	RP11-783K16.10_ENST00000539086.1_RNA|KCNK4_ENST00000539651.1_3'UTR|KCNK4_ENST00000422670.2_Missense_Mutation_p.R117C|KCNK4_ENST00000538767.1_Silent_p.G50G|Y_RNA_ENST00000384297.1_RNA|KCNK4_ENST00000394525.2_Missense_Mutation_p.R117C			Q9NYG8	KCNK4_HUMAN	potassium channel, subfamily K, member 4	117					potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			breast(2)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	10						AGATGCCGGGCGCCTCTTCTG	0.652																																						dbGAP											0													48.0	53.0	52.0					11																	64064626		2201	4297	6498	-	-	-	SO:0001583	missense	0			AF247042	CCDS8067.1	11q13	2012-03-07			ENSG00000182450	ENSG00000182450		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6279	protein-coding gene	gene with protein product		605720				10767409, 16382106	Standard	NM_033310		Approved	K2p4.1, TRAAK	uc001nzk.1	Q9NYG8	OTTHUMG00000168006	ENST00000539216.1:c.349C>T	11.37:g.64064626C>T	ENSP00000444948:p.Arg117Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B5TJL1|Q96T94	Missense_Mutation	SNP	pfam_Ion_trans_2,prints_2pore_dom_K_chnl_TRAAK,prints_2pore_dom_K_chnl_TREK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK	p.R117C	ENST00000539216.1	37	c.349	CCDS8067.1	11	.	.	.	.	.	.	.	.	.	.	C	24.3	4.515070	0.85389	.	.	ENSG00000182450	ENST00000422670;ENST00000539852;ENST00000394525;ENST00000544845;ENST00000539216	T;T;T	0.42131	0.98;0.98;0.98	5.25	5.25	0.73442	Ion transport 2 (1);	0.133902	0.53938	D	0.000056	T	0.74329	0.3702	H	0.94620	3.56	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.82404	-0.0474	10	0.87932	D	0	.	16.335	0.83056	0.0:1.0:0.0:0.0	.	117	Q9NYG8	KCNK4_HUMAN	C	117;142;117;179;117	ENSP00000402797:R117C;ENSP00000378033:R117C;ENSP00000444948:R117C	ENSP00000378033:R117C	R	+	1	0	KCNK4	63821202	0.934000	0.31675	0.986000	0.45419	0.997000	0.91878	2.530000	0.45641	2.450000	0.82876	0.555000	0.69702	CGC	KCNK4	-	pfam_Ion_trans_2,prints_2pore_dom_K_chnl	ENSG00000182450		0.652	KCNK4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KCNK4	HGNC	protein_coding	OTTHUMT00000396430.1	31	0.00	0	C	NM_033311		64064626	64064626	+1	no_errors	ENST00000394525	ensembl	human	known	69_37n	missense	17	43.33	13	SNP	1.000	T
LRBA	987	genome.wustl.edu	37	4	151223869	151223869	+	Missense_Mutation	SNP	C	C	G			TCGA-A7-A13G-01A-11D-A13L-09	TCGA-A7-A13G-11A-51D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ef847b83-eb88-435b-bcfd-4b51d4dfa5fe	7eaacabd-76fe-4080-9e1c-7277bffe8b89	g.chr4:151223869C>G	ENST00000357115.3	-	54	8201	c.7958G>C	c.(7957-7959)gGa>gCa	p.G2653A	LRBA_ENST00000510413.1_Missense_Mutation_p.G2642A|LRBA_ENST00000535741.1_Missense_Mutation_p.G2642A|LRBA_ENST00000503716.1_5'UTR	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2653						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					GTAGCAATTTCCCCCAATATA	0.428																																						dbGAP											0													159.0	142.0	148.0					4																	151223869		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.7958G>C	4.37:g.151223869C>G	ENSP00000349629:p.Gly2653Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom	p.G2653A	ENST00000357115.3	37	c.7958	CCDS3773.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.5|20.5	4.005681|4.005681	0.74932|0.74932	.|.	.|.	ENSG00000198589|ENSG00000198589	ENST00000509835|ENST00000535741;ENST00000510413;ENST00000357115	.|T;T;T	.|0.27890	.|1.64;1.64;1.64	5.78|5.78	5.78|5.78	0.91487|0.91487	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.48804|0.48804	0.1520|0.1520	L|L	0.36672|0.36672	1.1|1.1	0.80722|0.80722	D|D	1|1	.|D;D;B;D	.|0.89917	.|0.995;1.0;0.113;1.0	.|D;D;B;D	.|0.97110	.|0.975;0.999;0.159;1.0	T|T	0.30357|0.30357	-0.9981|-0.9981	5|10	.|0.42905	.|T	.|0.14	.|.	20.0172|20.0172	0.97481|0.97481	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|2653;2642;2642;548	.|P50851;F5H1X8;P50851-2;Q68D03	.|LRBA_HUMAN;.;.;.	Q|A	1295|2642;2642;2653	.|ENSP00000446299:G2642A;ENSP00000421552:G2642A;ENSP00000349629:G2653A	.|ENSP00000349629:G2653A	E|G	-|-	1|2	0|0	LRBA|LRBA	151443319|151443319	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.818000|7.818000	0.86416|0.86416	2.723000|2.723000	0.93209|0.93209	0.585000|0.585000	0.79938|0.79938	GAA|GGA	LRBA	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	ENSG00000198589		0.428	LRBA-002	KNOWN	basic|CCDS	protein_coding	LRBA	HGNC	protein_coding	OTTHUMT00000364939.1	121	0.00	0	C			151223869	151223869	-1	no_errors	ENST00000357115	ensembl	human	known	69_37n	missense	60	44.44	48	SNP	1.000	G
MEF2C	4208	genome.wustl.edu	37	5	88047758	88047758	+	Silent	SNP	G	G	A			TCGA-A7-A13G-01A-11D-A13L-09	TCGA-A7-A13G-11A-51D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ef847b83-eb88-435b-bcfd-4b51d4dfa5fe	7eaacabd-76fe-4080-9e1c-7277bffe8b89	g.chr5:88047758G>A	ENST00000437473.2	-	5	922	c.505C>T	c.(505-507)Cta>Tta	p.L169L	MEF2C_ENST00000340208.5_Silent_p.L187L|MEF2C_ENST00000424173.2_Silent_p.L167L|MEF2C_ENST00000508569.1_Silent_p.L169L|MEF2C_ENST00000506554.1_Silent_p.L169L|MEF2C_ENST00000539796.1_Silent_p.L121L|MEF2C_ENST00000514015.1_Silent_p.L169L|MEF2C_ENST00000514028.1_Silent_p.L169L|MEF2C_ENST00000510942.1_Silent_p.L169L|MEF2C_ENST00000504921.2_Silent_p.L169L|MEF2C_ENST00000503554.1_5'UTR	NM_001193350.1|NM_002397.4	NP_001180279.1|NP_002388.2	Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	169	Ser-rich.				apoptotic process (GO:0006915)|B cell homeostasis (GO:0001782)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac ventricle formation (GO:0003211)|cartilage morphogenesis (GO:0060536)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to fluid shear stress (GO:0071498)|cellular response to glucose stimulus (GO:0071333)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to trichostatin A (GO:0035984)|chondrocyte differentiation (GO:0002062)|dentate gyrus development (GO:0021542)|embryonic viscerocranium morphogenesis (GO:0048703)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|germinal center formation (GO:0002467)|glomerulus morphogenesis (GO:0072102)|heart development (GO:0007507)|heart looping (GO:0001947)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|MAPK cascade (GO:0000165)|melanocyte differentiation (GO:0030318)|monocyte differentiation (GO:0030224)|muscle cell differentiation (GO:0042692)|muscle cell fate determination (GO:0007521)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myotube differentiation (GO:0014902)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nephron tubule epithelial cell differentiation (GO:0072160)|nervous system development (GO:0007399)|neural crest cell differentiation (GO:0014033)|neuron development (GO:0048666)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoblast differentiation (GO:0001649)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|platelet formation (GO:0030220)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation in bone marrow (GO:0071864)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primary heart field specification (GO:0003138)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of dendritic spine development (GO:0060998)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of germinal center formation (GO:0002634)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron apoptotic process (GO:0043523)|regulation of neurotransmitter secretion (GO:0046928)|regulation of sarcomere organization (GO:0060297)|regulation of synapse assembly (GO:0051963)|regulation of synaptic activity (GO:0060025)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|renal tubule morphogenesis (GO:0061333)|response to ischemia (GO:0002931)|response to virus (GO:0009615)|response to vitamin E (GO:0033197)|secondary heart field specification (GO:0003139)|sinoatrial valve morphogenesis (GO:0003185)|skeletal muscle tissue development (GO:0007519)|smooth muscle cell differentiation (GO:0051145)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|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)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|sarcomere (GO:0030017)	activating transcription factor binding (GO:0033613)|AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|miRNA binding (GO:0035198)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		AGTGGCAATAGGTTGGGGTTT	0.522										HNSCC(66;0.2)																												dbGAP											0													234.0	235.0	235.0					5																	88047758		2012	4178	6190	-	-	-	SO:0001819	synonymous_variant	0			AL833268	CCDS47244.1, CCDS47245.1, CCDS54877.1, CCDS54878.1	5q14.3	2013-07-03	2007-04-24		ENSG00000081189	ENSG00000081189		"""Myocyte enhancer factors"""	6996	protein-coding gene	gene with protein product		600662				8455629	Standard	NM_002397		Approved		uc003kjl.3	Q06413	OTTHUMG00000162634	ENST00000437473.2:c.505C>T	5.37:g.88047758G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	C9JMZ0|D7F7N5|F8W7V7	Silent	SNP	pfam_TF_MADSbox,pfam_HJURP_C,superfamily_TF_MADSbox,smart_TF_MADSbox,prints_TF_MADSbox,pfscan_TF_MADSbox	p.L169	ENST00000437473.2	37	c.505	CCDS47245.1	5																																																																																			MEF2C	-	NULL	ENSG00000081189		0.522	MEF2C-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	MEF2C	HGNC	protein_coding	OTTHUMT00000369817.1	210	0.00	0	G	NM_002397		88047758	88047758	-1	no_errors	ENST00000437473	ensembl	human	known	69_37n	silent	82	37.88	50	SNP	1.000	A
NBPF1	55672	genome.wustl.edu	37	1	16905869	16905869	+	Silent	SNP	G	G	A	rs145182526		TCGA-A7-A13G-01A-11D-A13L-09	TCGA-A7-A13G-11A-51D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ef847b83-eb88-435b-bcfd-4b51d4dfa5fe	7eaacabd-76fe-4080-9e1c-7277bffe8b89	g.chr1:16905869G>A	ENST00000430580.2	-	17	2507	c.1620C>T	c.(1618-1620)aaC>aaT	p.N540N	NBPF1_ENST00000287968.8_5'Flank|NBPF1_ENST00000432949.1_5'Flank	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	540						cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		CCATGCTGACGTTTGTGGCAG	0.488																																						dbGAP											0													8.0	10.0	10.0					1																	16905869		912	2082	2994	-	-	-	SO:0001819	synonymous_variant	0			AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.1620C>T	1.37:g.16905869G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N4E8|Q9C0H0	RNA	SNP	-	NULL	ENST00000430580.2	37	NULL		1																																																																																			NBPF1	-	-	ENSG00000219481		0.488	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	NBPF1	HGNC	protein_coding	OTTHUMT00000106436.3	32	0.00	0	G	NM_017940		16905869	16905869	-1	no_errors	ENST00000430580	ensembl	human	known	69_37n	rna	30	16.67	6	SNP	0.241	A
PLEKHA6	22874	genome.wustl.edu	37	1	204210567	204210567	+	Missense_Mutation	SNP	T	T	C			TCGA-A7-A13G-01A-11D-A13L-09	TCGA-A7-A13G-11A-51D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ef847b83-eb88-435b-bcfd-4b51d4dfa5fe	7eaacabd-76fe-4080-9e1c-7277bffe8b89	g.chr1:204210567T>C	ENST00000272203.3	-	17	2661	c.2345A>G	c.(2344-2346)gAg>gGg	p.E782G	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.E802G	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	782										breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			TGGGGTCACCTCATCATCAGT	0.582																																						dbGAP											0													47.0	39.0	42.0					1																	204210567		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023186	CCDS1444.1	1q32	2013-01-10			ENSG00000143850	ENSG00000143850		"""Pleckstrin homology (PH) domain containing"""	17053	protein-coding gene	gene with protein product		607771				11001876	Standard	NM_014935		Approved	PEPP3, KIAA0969	uc001hau.4	Q9Y2H5	OTTHUMG00000036057	ENST00000272203.3:c.2345A>G	1.37:g.204210567T>C	ENSP00000272203:p.Glu782Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A7MD51|Q5VTI6	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.E782G	ENST00000272203.3	37	c.2345	CCDS1444.1	1	.	.	.	.	.	.	.	.	.	.	T	8.057	0.767189	0.15983	.	.	ENSG00000143850	ENST00000272203;ENST00000414478	T;T	0.10192	2.9;3.36	5.81	2.16	0.27623	.	0.643108	0.15679	N	0.250005	T	0.10294	0.0252	L	0.51422	1.61	0.09310	N	0.999996	B	0.21606	0.058	B	0.18561	0.022	T	0.22695	-1.0209	10	0.62326	D	0.03	-8.6	6.5691	0.22529	0.0:0.1389:0.1311:0.73	.	782	Q9Y2H5	PKHA6_HUMAN	G	782;802	ENSP00000272203:E782G;ENSP00000402046:E802G	ENSP00000272203:E782G	E	-	2	0	PLEKHA6	202477190	0.006000	0.16342	0.015000	0.15790	0.023000	0.10783	1.644000	0.37228	0.426000	0.26116	0.533000	0.62120	GAG	PLEKHA6	-	NULL	ENSG00000143850		0.582	PLEKHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHA6	HGNC	protein_coding	OTTHUMT00000087889.3	47	0.00	0	T	NM_014935		204210567	204210567	-1	no_errors	ENST00000272203	ensembl	human	known	69_37n	missense	48	23.81	15	SNP	0.046	C
PPP1R7	5510	genome.wustl.edu	37	2	242098694	242098694	+	Missense_Mutation	SNP	G	G	A			TCGA-A7-A13G-01A-11D-A13L-09	TCGA-A7-A13G-11A-51D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ef847b83-eb88-435b-bcfd-4b51d4dfa5fe	7eaacabd-76fe-4080-9e1c-7277bffe8b89	g.chr2:242098694G>A	ENST00000234038.6	+	5	844	c.370G>A	c.(370-372)Gag>Aag	p.E124K	PPP1R7_ENST00000406106.3_Missense_Mutation_p.E124K|PPP1R7_ENST00000401987.1_Missense_Mutation_p.E81K|PPP1R7_ENST00000485630.1_3'UTR|PPP1R7_ENST00000272983.8_Missense_Mutation_p.E81K|PPP1R7_ENST00000407025.1_Missense_Mutation_p.E124K|PPP1R7_ENST00000402734.1_Missense_Mutation_p.E65K|PPP1R7_ENST00000404405.3_Missense_Mutation_p.E118K	NM_001282412.1|NM_001282413.1|NM_002712.1	NP_001269341.1|NP_001269342.1|NP_002703.1	Q15435	PP1R7_HUMAN	protein phosphatase 1, regulatory subunit 7	124					positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	enzyme regulator activity (GO:0030234)|protein phosphatase type 1 regulator activity (GO:0008599)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)	23		all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096)		GAGTCTTCGAGAGCTGGATCT	0.488																																					NSCLC(62;446 1299 5417 11238 27640)	dbGAP											0													84.0	93.0	90.0					2																	242098694		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF067136	CCDS2546.1, CCDS63190.1, CCDS63192.1, CCDS63193.1, CCDS63194.1	2q37.3	2012-04-17	2011-10-04		ENSG00000115685	ENSG00000115685		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9295	protein-coding gene	gene with protein product		602877	"""protein phosphatase 1, regulatory (inhibitor) subunit 7"""			7498485, 7670491, 10231361	Standard	NM_001282413		Approved	sds22	uc002wat.1	Q15435	OTTHUMG00000133390	ENST00000234038.6:c.370G>A	2.37:g.242098694G>A	ENSP00000234038:p.Glu124Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DFD4|B5MCY6|Q9UQE5|Q9UQE6|Q9Y6K4	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_U2A'_phosphoprotein32A_C	p.E124K	ENST00000234038.6	37	c.370	CCDS2546.1	2	.	.	.	.	.	.	.	.	.	.	G	36	5.899537	0.97081	.	.	ENSG00000115685	ENST00000438799;ENST00000402734;ENST00000423280;ENST00000407025;ENST00000272983;ENST00000234038;ENST00000404405;ENST00000439916;ENST00000406106;ENST00000401987;ENST00000427172	T;T;T;T;T;T;T;T;T;T;T	0.61392	0.11;0.11;0.11;0.11;0.11;0.11;0.11;2.95;0.11;0.11;1.86	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.78266	0.4256	M	0.79011	2.435	0.80722	D	1	D;D;D;D;D;D	0.89917	0.996;0.997;0.998;1.0;0.998;0.998	D;D;D;D;D;D	0.85130	0.936;0.974;0.961;0.997;0.994;0.953	T	0.79181	-0.1909	10	0.59425	D	0.04	-26.0163	19.7405	0.96228	0.0:0.0:1.0:0.0	.	108;65;81;124;124;118	C9JD73;C9J177;Q15435-2;Q15435;Q15435-3;B5MBZ8	.;.;.;PP1R7_HUMAN;.;.	K	108;65;65;124;81;124;118;130;124;81;133	ENSP00000396376:E108K;ENSP00000385012:E65K;ENSP00000412092:E65K;ENSP00000385657:E124K;ENSP00000272983:E81K;ENSP00000234038:E124K;ENSP00000385498:E118K;ENSP00000409719:E130K;ENSP00000385022:E124K;ENSP00000385466:E81K;ENSP00000397985:E133K	ENSP00000234038:E124K	E	+	1	0	PPP1R7	241747367	1.000000	0.71417	0.992000	0.48379	0.997000	0.91878	9.060000	0.93907	2.655000	0.90218	0.655000	0.94253	GAG	PPP1R7	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000115685		0.488	PPP1R7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R7	HGNC	protein_coding	OTTHUMT00000257244.4	84	0.00	0	G	NM_002712		242098694	242098694	+1	no_errors	ENST00000234038	ensembl	human	known	69_37n	missense	40	34.92	22	SNP	1.000	A
PRAMEF1	65121	genome.wustl.edu	37	1	12853415	12853415	+	Silent	SNP	A	A	G	rs74459295		TCGA-A7-A13G-01A-11D-A13L-09	TCGA-A7-A13G-11A-51D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ef847b83-eb88-435b-bcfd-4b51d4dfa5fe	7eaacabd-76fe-4080-9e1c-7277bffe8b89	g.chr1:12853415A>G	ENST00000332296.7	+	2	142	c.39A>G	c.(37-39)gcA>gcG	p.A13A	PRAMEF1_ENST00000400814.3_5'Flank	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	13					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGGAGCTGGCAGGGCAGAGCC	0.552																																						dbGAP											0													87.0	92.0	91.0					1																	12853415		2200	4295	6495	-	-	-	SO:0001819	synonymous_variant	0			AL049686	CCDS148.1	1p36.21	2013-01-17			ENSG00000116721	ENSG00000116721		"""-"""	28840	protein-coding gene	gene with protein product							Standard	NM_023013		Approved		uc001auj.2	O95521	OTTHUMG00000001928	ENST00000332296.7:c.39A>G	1.37:g.12853415A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UQP2	Silent	SNP	NULL	p.A13	ENST00000332296.7	37	c.39	CCDS148.1	1																																																																																			PRAMEF1	-	NULL	ENSG00000116721		0.552	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF1	HGNC	protein_coding	OTTHUMT00000005458.1	102	0.97	1	A	NM_023013		12853415	12853415	+1	no_errors	ENST00000332296	ensembl	human	known	69_37n	silent	65	10.96	8	SNP	0.003	G
PTPN23	25930	genome.wustl.edu	37	3	47451185	47451185	+	Missense_Mutation	SNP	G	G	C			TCGA-A7-A13G-01A-11D-A13L-09	TCGA-A7-A13G-11A-51D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ef847b83-eb88-435b-bcfd-4b51d4dfa5fe	7eaacabd-76fe-4080-9e1c-7277bffe8b89	g.chr3:47451185G>C	ENST00000265562.4	+	19	2067	c.1990G>C	c.(1990-1992)Gcc>Ccc	p.A664P	PTPN23_ENST00000431726.1_Missense_Mutation_p.A538P	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	664					cilium morphogenesis (GO:0060271)|negative regulation of epithelial cell migration (GO:0010633)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of adherens junction organization (GO:1903393)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of homophilic cell adhesion (GO:1903387)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTCGTATGAAGCCTATGAGGA	0.632																																						dbGAP											0													43.0	44.0	43.0					3																	47451185		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB025194	CCDS2754.1	3p21.3	2011-06-09			ENSG00000076201	ENSG00000076201		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	14406	protein-coding gene	gene with protein product		606584				11095967	Standard	NM_015466		Approved	DKFZP564F0923, KIAA1471, HD-PTP	uc003crf.1	Q9H3S7	OTTHUMG00000133520	ENST00000265562.4:c.1990G>C	3.37:g.47451185G>C	ENSP00000265562:p.Ala664Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0D7|Q7KZF8|Q8N6Z5|Q9BSR5|Q9P257|Q9UG03|Q9UMZ4	Missense_Mutation	SNP	pfam_BRO1_dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_BRO1_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.A664P	ENST00000265562.4	37	c.1990	CCDS2754.1	3	.	.	.	.	.	.	.	.	.	.	G	21.4	4.147161	0.77888	.	.	ENSG00000076201	ENST00000456408;ENST00000265562	T	0.34859	1.34	4.22	4.22	0.49857	.	0.253477	0.37906	N	0.001888	T	0.56659	0.2000	M	0.63843	1.955	0.80722	D	1	D;D	0.76494	0.994;0.999	D;D	0.79784	0.976;0.993	T	0.60286	-0.7293	10	0.56958	D	0.05	-18.0225	15.5092	0.75766	0.0:0.0:1.0:0.0	.	538;664	B4DST5;Q9H3S7	.;PTN23_HUMAN	P	629;664	ENSP00000265562:A664P	ENSP00000265562:A664P	A	+	1	0	PTPN23	47426189	1.000000	0.71417	0.985000	0.45067	0.878000	0.50629	7.631000	0.83237	2.181000	0.69327	0.462000	0.41574	GCC	PTPN23	-	NULL	ENSG00000076201		0.632	PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN23	HGNC	protein_coding	OTTHUMT00000257492.2	56	0.00	0	G	NM_015466		47451185	47451185	+1	no_errors	ENST00000265562	ensembl	human	known	69_37n	missense	12	50.00	12	SNP	1.000	C
RABEP1	9135	genome.wustl.edu	37	17	5266266	5266267	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-A7-A13G-01A-11D-A13L-09	TCGA-A7-A13G-11A-51D-A13O-09	AC	AC					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ef847b83-eb88-435b-bcfd-4b51d4dfa5fe	7eaacabd-76fe-4080-9e1c-7277bffe8b89	g.chr17:5266266_5266267delAC	ENST00000546142.2	+	10	1810_1811	c.1623_1624delAC	c.(1621-1626)aaacagfs	p.Q542fs	RP11-420A6.2_ENST00000572792.1_RNA|RABEP1_ENST00000262477.6_Frame_Shift_Del_p.Q542fs|RABEP1_ENST00000341923.6_Frame_Shift_Del_p.Q542fs|RABEP1_ENST00000537505.1_Frame_Shift_Del_p.Q499fs|NUP88_ENST00000573169.1_Intron|RABEP1_ENST00000408982.2_Frame_Shift_Del_p.Q542fs			Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	542					apoptotic process (GO:0006915)|endocytosis (GO:0006897)|membrane fusion (GO:0061025)|protein transport (GO:0015031)	early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						ATTACGAAAAACAGTTACAAGG	0.406																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF098638	CCDS42243.1, CCDS45592.1	17p13.2	2008-02-05				ENSG00000029725			17677	protein-coding gene	gene with protein product		603616				8521472	Standard	NM_001291582		Approved	neurocrescin, RAB5EP, RABPT5, rabaptin-5	uc002gbm.4	Q15276		ENST00000546142.2:c.1623_1624delAC	17.37:g.5266266_5266267delAC	ENSP00000437701:p.Gln542fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAG7|O95369|Q8IVX3	Frame_Shift_Del	DEL	pfam_Rabaptin_coiled-coil,pfam_Rabaptin_Rab5-bd_dom,prints_Rabaptin	p.Q542fs	ENST00000546142.2	37	c.1623_1624	CCDS45592.1	17																																																																																			RABEP1	-	pfam_Rabaptin_coiled-coil	ENSG00000029725		0.406	RABEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RABEP1	HGNC	protein_coding	OTTHUMT00000439349.1	129	0.00	0	AC	NM_004703		5266266	5266267	+1	no_errors	ENST00000262477	ensembl	human	known	69_37n	frame_shift_del	64	35.35	35	DEL	1.000:1.000	-
TRBV4-1	28617	genome.wustl.edu	37	7	142013409	142013409	+	RNA	SNP	C	C	T			TCGA-A7-A13G-01A-11D-A13L-09	TCGA-A7-A13G-11A-51D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ef847b83-eb88-435b-bcfd-4b51d4dfa5fe	7eaacabd-76fe-4080-9e1c-7277bffe8b89	g.chr7:142013409C>T	ENST00000390357.3	+	0	293									T cell receptor beta variable 4-1																		CTGAATGCCCCAACAGCTCTC	0.512																																						dbGAP											0													121.0	128.0	126.0					7																	142013409		1944	4142	6086	-	-	-			0			U07977		7q34	2012-02-07			ENSG00000211710	ENSG00000211710		"""T cell receptors / TRB locus"""	12215	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV41, TCRBV4S1, TCRBV7S1A1N2T, BV07S1J2.7			OTTHUMG00000158522		7.37:g.142013409C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Ig_V-set,pfscan_Ig-like	p.P88	ENST00000390357.3	37	c.264		7																																																																																			TRBV4-1	-	pfam_Ig_V-set,pfscan_Ig-like	ENSG00000211710		0.512	TRBV4-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TRBV4-1	HGNC	TR_V_gene	OTTHUMT00000351228.2	75	0.00	0	C	NG_001333		142013409	142013409	+1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000390357	ensembl	human	known	69_37n	silent	10	76.74	33	SNP	0.000	T
USP48	84196	genome.wustl.edu	37	1	22073561	22073561	+	Splice_Site	DEL	T	T	-			TCGA-A7-A13G-01A-11D-A13L-09	TCGA-A7-A13G-11A-51D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ef847b83-eb88-435b-bcfd-4b51d4dfa5fe	7eaacabd-76fe-4080-9e1c-7277bffe8b89	g.chr1:22073561delT	ENST00000308271.9	-	8	1638	c.990delA	c.(988-990)aaa>aa	p.K330fs	USP48_ENST00000529637.1_Splice_Site_p.K330fs|USP48_ENST00000421625.2_Splice_Site_p.K330fs|USP48_ENST00000400301.1_Splice_Site_p.K330fs	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	330	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		AAATATTACCTTTATGTTCCA	0.353																																						dbGAP											0													69.0	69.0	69.0					1																	22073561		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF502942	CCDS30623.1, CCDS44084.1	1p36.12	2008-02-05	2005-08-08	2004-04-07	ENSG00000090686	ENSG00000090686		"""Ubiquitin-specific peptidases"""	18533	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"", ""ubiquitin specific protease 48"""	USP31		12838346	Standard	XM_005246009		Approved	FLJ23277, FLJ11328, FLJ20103, FLJ23054, MGC14879	uc001bfb.3	Q86UV5	OTTHUMG00000007798	ENST00000308271.9:c.991+1A>-	1.37:g.22073561delT		Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Frame_Shift_Del	DEL	pfam_Peptidase_C19,pfscan_Peptidase_C19,pfscan_Ubiquitin_supergroup	p.G331fs	ENST00000308271.9	37	c.990	CCDS30623.1	1																																																																																			USP48	-	pfam_Peptidase_C19,pfscan_Peptidase_C19	ENSG00000090686		0.353	USP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP48	HGNC	protein_coding	OTTHUMT00000021372.1	56	0.00	0	T	NM_032236	Frame_Shift_Del	22073561	22073561	-1	no_errors	ENST00000308271	ensembl	human	known	69_37n	frame_shift_del	69	40.34	48	DEL	1.000	-
VWC2L	402117	genome.wustl.edu	37	2	215440482	215440482	+	Missense_Mutation	SNP	G	G	A			TCGA-A7-A13G-01A-11D-A13L-09	TCGA-A7-A13G-11A-51D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ef847b83-eb88-435b-bcfd-4b51d4dfa5fe	7eaacabd-76fe-4080-9e1c-7277bffe8b89	g.chr2:215440482G>A	ENST00000312504.5	+	4	1409	c.607G>A	c.(607-609)Ggg>Agg	p.G203R	AC107218.3_ENST00000412896.1_RNA|AC107218.3_ENST00000437883.1_RNA|VWC2L_ENST00000427124.1_3'UTR	NM_001080500.2	NP_001073969.1	B2RUY7	VWC2L_HUMAN	von Willebrand factor C domain containing protein 2-like	203					negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of neuron differentiation (GO:0045666)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)				breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1)	16						TTGTCACAACGGGGACTGGTG	0.473																																						dbGAP											0													232.0	226.0	228.0					2																	215440482		2021	4205	6226	-	-	-	SO:0001583	missense	0			AB374231	CCDS46509.1	2q34-q35	2011-01-25	2011-01-25		ENSG00000174453	ENSG00000174453			37203	protein-coding gene	gene with protein product			"""von Willebrand factor C domain-containing protein 2-like"""				Standard	NM_001080500		Approved		uc002vet.2	B2RUY7	OTTHUMG00000154811	ENST00000312504.5:c.607G>A	2.37:g.215440482G>A	ENSP00000308976:p.Gly203Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NC69|B2RUW7|B7X8X1	Missense_Mutation	SNP	smart_VWF_C,pfscan_VWF_C	p.G203R	ENST00000312504.5	37	c.607	CCDS46509.1	2	.	.	.	.	.	.	.	.	.	.	G	19.84	3.901346	0.72754	.	.	ENSG00000174453	ENST00000312504	T	0.53206	0.63	5.58	5.58	0.84498	.	.	.	.	.	T	0.40322	0.1112	L	0.34521	1.04	0.80722	D	1	B	0.32425	0.371	B	0.25884	0.064	T	0.35599	-0.9782	9	0.66056	D	0.02	-1.0123	19.5796	0.95461	0.0:0.0:1.0:0.0	.	203	B2RUY7	VWC2L_HUMAN	R	203	ENSP00000308976:G203R	ENSP00000308976:G203R	G	+	1	0	VWC2L	215148727	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.624000	0.88883	0.655000	0.94253	GGG	VWC2L	-	NULL	ENSG00000174453		0.473	VWC2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VWC2L	HGNC	protein_coding	OTTHUMT00000337175.1	121	0.00	0	G	NM_001080500		215440482	215440482	+1	no_errors	ENST00000312504	ensembl	human	known	69_37n	missense	40	48.05	37	SNP	1.000	A
ZNF180	7733	genome.wustl.edu	37	19	44981511	44981511	+	Missense_Mutation	SNP	A	A	T			TCGA-A7-A13G-01A-11D-A13L-09	TCGA-A7-A13G-11A-51D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ef847b83-eb88-435b-bcfd-4b51d4dfa5fe	7eaacabd-76fe-4080-9e1c-7277bffe8b89	g.chr19:44981511A>T	ENST00000221327.4	-	5	1468	c.1187T>A	c.(1186-1188)cTt>cAt	p.L396H	AC069278.4_ENST00000591684.1_lincRNA|ZNF180_ENST00000585514.1_5'Flank|ZNF180_ENST00000391956.4_Missense_Mutation_p.L371H|ZNF180_ENST00000592529.1_Missense_Mutation_p.L369H	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	396					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				ATGGGAAACAAGGTGCGAGCT	0.453																																					Esophageal Squamous(180;1353 2003 32862 46574 49854)	dbGAP											0													67.0	69.0	68.0					19																	44981511		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF192913	CCDS12639.1, CCDS62707.1, CCDS62708.1	19q13.2	2013-01-08	2006-08-22			ENSG00000167384		"""Zinc fingers, C2H2-type"", ""-"""	12970	protein-coding gene	gene with protein product		606740	"""zinc finger protein 180 (HHZ168)"""				Standard	NM_001288762		Approved	HHZ168	uc002ozf.4	Q9UJW8		ENST00000221327.4:c.1187T>A	19.37:g.44981511A>T	ENSP00000221327:p.Leu396His	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCN6|B3KV56|K7EQX9|Q58F03|Q9P1U2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L396H	ENST00000221327.4	37	c.1187	CCDS12639.1	19	.	.	.	.	.	.	.	.	.	.	A	18.81	3.703646	0.68501	.	.	ENSG00000167384	ENST00000221327;ENST00000391956	T;T	0.54071	0.59;0.59	5.38	5.38	0.77491	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.207411	0.24316	N	0.039591	T	0.79423	0.4443	H	0.95574	3.69	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	P;D;D	0.65443	0.892;0.935;0.935	D	0.85769	0.1354	10	0.87932	D	0	-11.5508	14.3573	0.66745	1.0:0.0:0.0:0.0	.	371;395;396	G5E9B8;Q58F03;Q9UJW8	.;.;ZN180_HUMAN	H	396;371	ENSP00000221327:L396H;ENSP00000375818:L371H	ENSP00000221327:L396H	L	-	2	0	ZNF180	49673351	0.576000	0.26700	1.000000	0.80357	0.890000	0.51754	5.408000	0.66368	2.022000	0.59522	0.482000	0.46254	CTT	ZNF180	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000167384		0.453	ZNF180-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF180	HGNC	protein_coding	OTTHUMT00000451601.1	74	0.00	0	A	NM_013256		44981511	44981511	-1	no_errors	ENST00000221327	ensembl	human	known	69_37n	missense	41	48.10	38	SNP	0.998	T
