#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CAF	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_ref_reads_val	i_normal_vaf	i_normal_vaf_val	i_normal_var_reads	i_normal_var_reads_val	i_reference	i_refseq_mrna_id	i_rsID	i_rsID_ref_var_alleles	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_tumor_ref_reads	i_tumor_ref_reads_val	i_tumor_vaf	i_tumor_vaf_val	i_tumor_var_reads	i_tumor_var_reads_val	i_type	i_ucsc_cons	i_variant
NLGN4X	57502	genome.wustl.edu	37	X	5947401	5947401	+	Missense_Mutation	SNP	C	C	A			TCGA-ZB-A969-01A-11D-A428-09	TCGA-ZB-A969-11A-11D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f5d0ee62-548f-47f5-a81f-08283357a321	96120df2-4b62-4a53-abbb-2b7564156339	g.chrX:5947401C>A	ENST00000381095.3	-	3	1172	c.545G>T	c.(544-546)gGc>gTc	p.G182V	NLGN4X_ENST00000381092.1_Missense_Mutation_p.G182V|NLGN4X_ENST00000538097.1_Missense_Mutation_p.G182V|NLGN4X_ENST00000275857.6_Missense_Mutation_p.G182V|NLGN4X_ENST00000381093.2_Missense_Mutation_p.G202V	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	182					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						AATCATGTTGCCGGTGCCCTC	0.443																																							0											0													149.0	112.0	124.0					X																	5947401		2203	4300	6503	SO:0001583	missense	0			AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"""neuroligin 4"""	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.545G>T	X.37:g.5947401C>A	ENSP00000370485:p.Gly182Val		Q6UX10|Q9ULG0	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin	p.G202V	ENST00000381095.3	37	c.605	CCDS14126.1	X	.	.	.	.	.	.	.	.	.	.	C	14.29	2.492006	0.44352	.	.	ENSG00000146938	ENST00000381095;ENST00000381093;ENST00000275857;ENST00000381092;ENST00000538097	T;T;T;T;T	0.70749	-0.51;-0.51;-0.51;-0.51;-0.51	4.01	3.13	0.36017	Carboxylesterase, type B (1);	.	.	.	.	D	0.88665	0.6498	H	0.97240	3.965	0.80722	D	1	D;D;D	0.89917	0.995;1.0;0.996	D;D;D	0.91635	0.93;0.999;0.966	D	0.90358	0.4371	9	0.87932	D	0	.	12.1334	0.53957	0.0:0.8301:0.1698:0.0	.	202;182;202	A6NMU8;Q8N0W4;Q8N0W4-2	.;NLGNX_HUMAN;.	V	182;202;182;182;182	ENSP00000370485:G182V;ENSP00000370483:G202V;ENSP00000275857:G182V;ENSP00000370482:G182V;ENSP00000439203:G182V	ENSP00000275857:G182V	G	-	2	0	NLGN4X	5957401	1.000000	0.71417	0.003000	0.11579	0.832000	0.47134	6.722000	0.74735	0.526000	0.28541	0.538000	0.68166	GGC	0	pfam_CarbesteraseB,pfam_AB_hydrolase_3		0.443	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	NLGN4X	protein_coding	OTTHUMT00000055673.1	107	284	0	0.00	0	0	C	NM_020742	0	0		5947401	-1	no_errors	ENST00000381093	ensembl	human	known	74_37	missense	74	117	33.93	37.77	38	71	SNP	0.993	A
STARD8	9754	genome.wustl.edu	37	X	67943847	67943847	+	Silent	SNP	G	G	A	rs373631827		TCGA-ZB-A969-01A-11D-A428-09	TCGA-ZB-A969-11A-11D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f5d0ee62-548f-47f5-a81f-08283357a321	96120df2-4b62-4a53-abbb-2b7564156339	g.chrX:67943847G>A	ENST00000252336.6	+	13	3210	c.2838G>A	c.(2836-2838)ccG>ccA	p.P946P	STARD8_ENST00000374597.3_Silent_p.P946P|STARD8_ENST00000374599.3_Silent_p.P1026P	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	946	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						CCCTGGATCCGGAACAACCTG	0.602																																							0											0								G	,,	0,3835		0,0,1632,571	128.0	83.0	98.0		3078,2838,2838	-2.7	0.4	X		98	1,6727		0,1,2427,1872	no	coding-synonymous,coding-synonymous,coding-synonymous	STARD8	NM_001142503.2,NM_001142504.2,NM_014725.4	,,	0,1,4059,2443	AA,AG,GG,G		0.0149,0.0,0.0095	,,	1026/1104,946/1024,946/1024	67943847	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	0			D80011	CCDS14390.1, CCDS48134.1	Xq13.1	2011-09-13	2007-08-16		ENSG00000130052	ENSG00000130052		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19161	protein-coding gene	gene with protein product		300689	"""START domain containing 8"""			8724849	Standard	NM_001142504		Approved	KIAA0189, ARHGAP38	uc004dxb.3	Q92502	OTTHUMG00000021748	ENST00000252336.6:c.2838G>A	X.37:g.67943847G>A			A8K6T2|D3DVT9|Q5JST0|Q68DG7	Silent	SNP	pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom	p.P1026	ENST00000252336.6	37	c.3078	CCDS14390.1	X																																																																																			0	pfam_START_lipid-bd_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom		0.602	STARD8-201	KNOWN	basic|CCDS	protein_coding	STARD8	protein_coding	OTTHUMT00000057026.2	46	189	0	0.53	0	1	G	NM_014725	rs373631827	G->A		67943847	1	no_errors	ENST00000374599	ensembl	human	known	74_37	silent	27	82	48.08	36.15	25	47	SNP	0.983	A
GPR119	139760	genome.wustl.edu	37	X	129519407	129519407	+	Missense_Mutation	SNP	G	G	T			TCGA-ZB-A969-01A-11D-A428-09	TCGA-ZB-A969-11A-11D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f5d0ee62-548f-47f5-a81f-08283357a321	96120df2-4b62-4a53-abbb-2b7564156339	g.chrX:129519407G>T	ENST00000276218.2	-	1	104	c.15C>A	c.(13-15)ttC>ttA	p.F5L		NM_178471.2	NP_848566.1	Q8TDV5	GP119_HUMAN	G protein-coupled receptor 119	5					insulin secretion (GO:0030073)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)|phosphatidylcholine binding (GO:0031210)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1)	11						CTCCAAATGAGAAAGATGATT	0.517																																							0											0													207.0	192.0	197.0					X																	129519407		2203	4300	6503	SO:0001583	missense	0			AY288416	CCDS14625.1	Xq26.1	2014-01-30			ENSG00000147262	ENSG00000147262		"""GPCR / Class A : Orphans"""	19060	protein-coding gene	gene with protein product		300513				12044878, 14623098	Standard	NM_178471		Approved	hGPCR2, GPCR2	uc011muv.2	Q8TDV5	OTTHUMG00000022397	ENST00000276218.2:c.15C>A	X.37:g.129519407G>T	ENSP00000276218:p.Phe5Leu		Q495H7|Q4VBN3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.F5L	ENST00000276218.2	37	c.15	CCDS14625.1	X	.	.	.	.	.	.	.	.	.	.	G	7.690	0.690914	0.15039	.	.	ENSG00000147262	ENST00000276218	T	0.59364	0.27	5.3	2.52	0.30459	.	0.593745	0.17186	N	0.183712	T	0.35480	0.0933	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.18903	-1.0322	10	0.35671	T	0.21	-2.297	8.5216	0.33279	0.2729:0.0:0.7271:0.0	.	5	Q8TDV5	GP119_HUMAN	L	5	ENSP00000276218:F5L	ENSP00000276218:F5L	F	-	3	2	GPR119	129347088	0.327000	0.24678	0.060000	0.19600	0.852000	0.48524	0.313000	0.19415	0.605000	0.29947	0.513000	0.50165	TTC	0	NULL		0.517	GPR119-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR119	protein_coding	OTTHUMT00000058270.1	47	291	0	0.00	0	0	G	NM_178471	0	0		129519407	-1	no_errors	ENST00000276218	ensembl	human	known	74_37	missense	26	148	46	38.59	23	93	SNP	0.127	T
ZFP92	139735	genome.wustl.edu	37	X	152685753	152685753	+	Silent	SNP	C	C	T			TCGA-ZB-A969-01A-11D-A428-09	TCGA-ZB-A969-11A-11D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f5d0ee62-548f-47f5-a81f-08283357a321	96120df2-4b62-4a53-abbb-2b7564156339	g.chrX:152685753C>T	ENST00000338647.5	+	3	229	c.228C>T	c.(226-228)gaC>gaT	p.D76D		NM_001136273.1	NP_001129745.1	A6NM28	ZFP92_HUMAN	ZFP92 zinc finger protein	76	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(4)	6						GGGTAGCAGACATCCCCAGAA	0.552																																							0											0													84.0	67.0	72.0					X																	152685753		692	1591	2283	SO:0001819	synonymous_variant	0			U82695	CCDS59177.1	Xq28	2013-01-08	2012-11-27		ENSG00000189420	ENSG00000189420		"""Zinc fingers, C2H2-type"", ""-"""	12865	protein-coding gene	gene with protein product			"""zinc finger protein homologous to Zfp92 in mouse"", ""zinc finger protein 92 homolog (mouse)"""				Standard	NM_001136273		Approved	ZNF897	uc011myo.2	A6NM28	OTTHUMG00000024198	ENST00000338647.5:c.228C>T	X.37:g.152685753C>T				Silent	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.D76	ENST00000338647.5	37	c.228	CCDS59177.1	X																																																																																			0	pfscan_Krueppel-associated_box		0.552	ZFP92-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP92	protein_coding	OTTHUMT00000332220.2	177	237	0	0.00	0	0	C		0	0		152685753	1	no_errors	ENST00000338647	ensembl	human	known	74_37	silent	111	143	9.76	8.92	12	14	SNP	0	T
RHD	6007	genome.wustl.edu	37	1	25655528	25655528	+	3'UTR	SNP	C	C	T			TCGA-ZB-A969-01A-11D-A428-09	TCGA-ZB-A969-11A-11D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f5d0ee62-548f-47f5-a81f-08283357a321	96120df2-4b62-4a53-abbb-2b7564156339	g.chr1:25655528C>T	ENST00000328664.4	+	0	1522				RHD_ENST00000342055.5_Silent_p.R461R|RHD_ENST00000423810.2_3'UTR|RHD_ENST00000568195.1_Silent_p.R431R|RHD_ENST00000417538.2_3'UTR|RHD_ENST00000357542.4_3'UTR|RHD_ENST00000454452.2_3'UTR	NM_001282867.1|NM_016124.3	NP_001269796.1|NP_057208	Q02161	RHD_HUMAN	Rh blood group, D antigen							integral component of plasma membrane (GO:0005887)	ammonium transmembrane transporter activity (GO:0008519)			breast(2)|large_intestine(4)|lung(7)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCAATGTTCgcgcaggcactg	0.418																																							0											0																																										SO:0001624	3_prime_UTR_variant	0			AB012623	CCDS262.1, CCDS53285.1, CCDS60027.1, CCDS60028.1, CCDS60029.1, CCDS60030.1, CCDS60031.1	1p36.11	2014-07-19	2013-10-02		ENSG00000187010	ENSG00000187010		"""CD molecules"", ""Blood group antigens"""	10009	protein-coding gene	gene with protein product		111680	"""Rhesus blood group, D antigen"", ""Rh blood group, D antigen"""	RH		8220426	Standard	NM_016124		Approved	Rh30a, Rh4, RhPI, RhII, DIIIc, CD240D	uc001bjz.3	Q02161	OTTHUMG00000003476	ENST00000328664.4:c.*113C>T	1.37:g.25655528C>T			Q02162|Q07618|Q16147|Q16235|Q16355|Q5VSK0|Q5XLS9|Q5XLT1|Q5XLT2|Q9NPK0|Q9UQ20|Q9UQ21|Q9UQ22|Q9UQ23	Silent	SNP	pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom,prints_RhesusRHD	p.R461	ENST00000328664.4	37	c.1383	CCDS262.1	1																																																																																			0	NULL		0.418	RHD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHD	protein_coding	OTTHUMT00000009660.5	116	296	0	0.00	0	0	C	NM_016124	0	0		25655528	1	no_errors	ENST00000342055	ensembl	human	putative	74_37	silent	52	109	46.39	46.60	45	96	SNP	0.003	T
PDE4B	5142	genome.wustl.edu	37	1	66384468	66384468	+	Silent	SNP	G	G	A			TCGA-ZB-A969-01A-11D-A428-09	TCGA-ZB-A969-11A-11D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f5d0ee62-548f-47f5-a81f-08283357a321	96120df2-4b62-4a53-abbb-2b7564156339	g.chr1:66384468G>A	ENST00000329654.4	+	3	418	c.231G>A	c.(229-231)ctG>ctA	p.L77L	PDE4B_ENST00000371049.3_Silent_p.L77L	NM_001037341.1	NP_001032418.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	77					cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|leukocyte migration (GO:0050900)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|neutrophil homeostasis (GO:0001780)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of high voltage-gated calcium channel activity (GO:1901841)|T cell receptor signaling pathway (GO:0050852)	cell periphery (GO:0071944)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theobromine(DB01412)|Theophylline(DB00277)	CGACCACACTGCCTTTGACAA	0.438																																							0											0													106.0	101.0	103.0					1																	66384468		2203	4300	6503	SO:0001819	synonymous_variant	0			L20971	CCDS632.1, CCDS30742.1, CCDS30743.1, CCDS72802.1	1p31	2010-06-24	2010-06-24		ENSG00000184588	ENSG00000184588		"""Phosphodiesterases"""	8781	protein-coding gene	gene with protein product	"""phosphodiesterase E4 dunce homolog (Drosophila)"""	600127	"""phosphodiesterase 4B, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E4)"", ""phosphodiesterase 4B, cAMP-specific (phosphodiesterase E4 dunce homolog, Drosophila)"""	DPDE4			Standard	XM_005270925		Approved		uc001dco.3	Q07343	OTTHUMG00000009088	ENST00000329654.4:c.231G>A	1.37:g.66384468G>A			A5YW33|O15443|Q13945|Q5TEK4|Q5TEK5|Q5TEK6	Silent	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase	p.L77	ENST00000329654.4	37	c.231	CCDS632.1	1																																																																																			0	NULL		0.438	PDE4B-001	KNOWN	basic|CCDS	protein_coding	PDE4B	protein_coding	OTTHUMT00000025188.3	51	276	0	0.00	0	0	G	NM_002600	0	0		66384468	1	no_errors	ENST00000329654	ensembl	human	known	74_37	silent	42	162	17.65	10.50	9	19	SNP	0.964	A
FAM46C	54855	genome.wustl.edu	37	1	118166566	118166566	+	Missense_Mutation	SNP	C	C	T	rs557599465		TCGA-ZB-A969-01A-11D-A428-09	TCGA-ZB-A969-11A-11D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f5d0ee62-548f-47f5-a81f-08283357a321	96120df2-4b62-4a53-abbb-2b7564156339	g.chr1:118166566C>T	ENST00000369448.3	+	2	1323	c.1076C>T	c.(1075-1077)cCg>cTg	p.P359L		NM_017709.3	NP_060179.2	Q5VWP2	FA46C_HUMAN	family with sequence similarity 46, member C	359										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)		TACTACCAGCCGGCCCCTTAC	0.567			"""Mis, F, O"""		MM					Multiple Myeloma(3;1.13e-06)																													0		Rec	yes		1	1p12	54855	"""family with sequence similarity 46, member C"""		L	0													121.0	97.0	105.0					1																	118166566		2203	4300	6503	SO:0001583	missense	0			BC036516	CCDS896.1	1p12	2008-02-05			ENSG00000183508	ENSG00000183508			24712	protein-coding gene	gene with protein product		613952				12477932	Standard	NM_017709		Approved	FLJ20202	uc001ehe.3	Q5VWP2	OTTHUMG00000013703	ENST00000369448.3:c.1076C>T	1.37:g.118166566C>T	ENSP00000358458:p.Pro359Leu		A3KMG2|Q8NE25|Q9NXK0	Missense_Mutation	SNP	pfam_DUF1693	p.P359L	ENST00000369448.3	37	c.1076	CCDS896.1	1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.223129	0.58668	.	.	ENSG00000183508	ENST00000369448	T	0.33216	1.42	5.7	4.79	0.61399	.	0.000000	0.64402	D	0.000002	T	0.28400	0.0702	M	0.88570	2.965	0.80722	D	1	B	0.15719	0.014	B	0.06405	0.002	T	0.35201	-0.9798	10	0.87932	D	0	-6.1122	13.7448	0.62868	0.0:0.9263:0.0:0.0737	.	359	Q5VWP2	FA46C_HUMAN	L	359	ENSP00000358458:P359L	ENSP00000358458:P359L	P	+	2	0	FAM46C	117968089	1.000000	0.71417	0.963000	0.40424	0.533000	0.34776	7.468000	0.80943	1.417000	0.47077	-0.136000	0.14681	CCG	0	NULL		0.567	FAM46C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM46C	protein_coding	OTTHUMT00000038424.1	28	363	0	0.00	0	0	C	NM_017709	rs557599465	C->T		118166566	1	no_errors	ENST00000369448	ensembl	human	known	74_37	missense	27	163	34.15	33.47	14	82	SNP	1	T
LBX2	85474	genome.wustl.edu	37	2	74726543	74726543	+	Missense_Mutation	SNP	G	G	C			TCGA-ZB-A969-01A-11D-A428-09	TCGA-ZB-A969-11A-11D-A42B-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f5d0ee62-548f-47f5-a81f-08283357a321	96120df2-4b62-4a53-abbb-2b7564156339	g.chr2:74726543G>C	ENST00000377566.4	-	1	300	c.122C>G	c.(121-123)cCa>cGa	p.P41R	LBX2_ENST00000341396.2_Intron|LBX2_ENST00000460508.3_Intron|RP11-523H20.3_ENST00000606287.1_RNA|LBX2_ENST00000550249.1_Intron|AC005041.17_ENST00000479098.1_RNA	NM_001282430.1	NP_001269359.1	Q6XYB7	LBX2_HUMAN	ladybird homeobox 2	41					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(1)	4						CGGCGACGTTGGACCCGGACC	0.647																																							0											0																																										SO:0001583	missense	0			AC005041	CCDS33228.1, CCDS62938.1	2p13.1	2014-05-06	2007-02-15		ENSG00000179528	ENSG00000179528		"""Homeoboxes / ANTP class : NKL subclass"""	15525	protein-coding gene	gene with protein product		607164	"""ladybird homeobox homolog 2 (Drosophila)"""			11386758	Standard	NM_001282430		Approved		uc002slw.3	Q6XYB7	OTTHUMG00000170595	ENST00000377566.4:c.122C>G	2.37:g.74726543G>C	ENSP00000366789:p.Pro41Arg		Q7Z5Y8	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.P41R	ENST00000377566.4	37	c.122		2	.	.	.	.	.	.	.	.	.	.	G	10.36	1.327788	0.24080	.	.	ENSG00000179528	ENST00000377566	D	0.92149	-2.98	4.67	2.86	0.33363	.	0.000000	0.45606	D	0.000342	D	0.86674	0.5989	.	.	.	0.48040	D	0.999578	P	0.41978	0.767	B	0.36922	0.236	T	0.83070	-0.0143	9	0.62326	D	0.03	.	6.4629	0.21966	0.0983:0.1827:0.719:0.0	.	41	Q6XYB7	LBX2_HUMAN	R	41	ENSP00000366789:P41R	ENSP00000366789:P41R	P	-	2	0	LBX2	74580051	0.152000	0.22762	0.011000	0.14972	0.017000	0.09413	0.527000	0.22987	0.585000	0.29608	-0.194000	0.12790	CCA	0	NULL		0.647	LBX2-002	KNOWN	basic|appris_principal	protein_coding	LBX2	protein_coding	OTTHUMT00000328490.1	111	139	0.89	0.00	1	0	G	NM_001009812	0	0		74726543	-1	no_errors	ENST00000377566	ensembl	human	known	74_37	missense	54	42	36.47	38.24	31	26	SNP	0.059	C
NR4A2	4929	genome.wustl.edu	37	2	157184975	157184975	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A969-01A-11D-A428-09	TCGA-ZB-A969-11A-11D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f5d0ee62-548f-47f5-a81f-08283357a321	96120df2-4b62-4a53-abbb-2b7564156339	g.chr2:157184975C>T	ENST00000339562.4	-	4	1297	c.935G>A	c.(934-936)cGg>cAg	p.R312Q	NR4A2_ENST00000429376.1_Missense_Mutation_p.R249Q|NR4A2_ENST00000409108.2_Missense_Mutation_p.R312Q|NR4A2_ENST00000539077.1_Missense_Mutation_p.R323Q|NR4A2_ENST00000426264.1_Missense_Mutation_p.R249Q|NR4A2_ENST00000409572.1_Missense_Mutation_p.R312Q	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	312					adult locomotory behavior (GO:0008344)|cellular response to extracellular stimulus (GO:0031668)|cellular response to oxidative stress (GO:0034599)|central nervous system projection neuron axonogenesis (GO:0021952)|death (GO:0016265)|dopamine biosynthetic process (GO:0042416)|dopaminergic neuron differentiation (GO:0071542)|gene expression (GO:0010467)|general adaptation syndrome (GO:0051866)|habenula development (GO:0021986)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of neuron apoptotic process (GO:0043524)|neuron maturation (GO:0042551)|neuron migration (GO:0001764)|positive regulation of catalytic activity (GO:0043085)|post-embryonic development (GO:0009791)|regulation of dopamine metabolic process (GO:0042053)|regulation of respiratory gaseous exchange (GO:0043576)|response to amphetamine (GO:0001975)|response to hypoxia (GO:0001666)|response to inorganic substance (GO:0010035)|response to insecticide (GO:0017085)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.R312Q(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						ACAGCGATTCCGGCGACGCTT	0.493																																							0											1	Substitution - Missense(1)	endometrium(1)											107.0	98.0	101.0					2																	157184975		2203	4300	6503	SO:0001583	missense	0			X75918	CCDS2201.1	2q22-q23	2013-01-16			ENSG00000153234	ENSG00000153234		"""Nuclear hormone receptors"""	7981	protein-coding gene	gene with protein product		601828		NURR1		7706727	Standard	NM_006186		Approved	TINUR, NOT, RNR1, HZF-3	uc002tyz.4	P43354	OTTHUMG00000131950	ENST00000339562.4:c.935G>A	2.37:g.157184975C>T	ENSP00000344479:p.Arg312Gln		Q16311|Q53RZ2|Q6NXU0	Missense_Mutation	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_NURR_rcpt,prints_Nuc_orph_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt	p.R323Q	ENST00000339562.4	37	c.968	CCDS2201.1	2	.	.	.	.	.	.	.	.	.	.	C	21.5	4.155991	0.78114	.	.	ENSG00000153234	ENST00000339562;ENST00000426264;ENST00000409572;ENST00000539077;ENST00000409108;ENST00000429376	D;D;D;D;D;D	0.98958	-5.27;-5.27;-5.27;-5.27;-5.27;-5.27	6.07	6.07	0.98685	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (4);	0.000000	0.85682	D	0.000000	D	0.99459	0.9808	H	0.96430	3.82	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98559	1.0640	10	0.87932	D	0	.	17.5358	0.87830	0.0:0.8766:0.1234:0.0	.	312	P43354	NR4A2_HUMAN	Q	312;249;312;323;312;249	ENSP00000344479:R312Q;ENSP00000389986:R249Q;ENSP00000386747:R312Q;ENSP00000444925:R323Q;ENSP00000386993:R312Q;ENSP00000410952:R249Q	ENSP00000344479:R312Q	R	-	2	0	NR4A2	156893221	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.089000	0.71384	2.885000	0.99019	0.655000	0.94253	CGG	0	pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt		0.493	NR4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR4A2	protein_coding	OTTHUMT00000254909.2	84	343	0	0.00	0	0	C		0	0		157184975	-1	no_errors	ENST00000539077	ensembl	human	known	74_37	missense	33	105	42.11	44.50	24	85	SNP	1	T
ITIH4	3700	genome.wustl.edu	37	3	52858575	52858575	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ZB-A969-01A-11D-A428-09	TCGA-ZB-A969-11A-11D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f5d0ee62-548f-47f5-a81f-08283357a321	96120df2-4b62-4a53-abbb-2b7564156339	g.chr3:52858575C>A	ENST00000266041.4	-	8	979	c.883G>T	c.(883-885)Gaa>Taa	p.E295*	ITIH4_ENST00000434759.3_Nonsense_Mutation_p.E207*|ITIH4_ENST00000485816.1_Nonsense_Mutation_p.E295*|ITIH4-AS1_ENST00000478366.1_RNA|ITIH4_ENST00000467462.1_5'Flank|ITIH4_ENST00000406595.1_Nonsense_Mutation_p.E295*|ITIH4_ENST00000346281.5_Nonsense_Mutation_p.E295*|RP5-966M1.6_ENST00000468472.1_3'UTR	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	295	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				acute-phase response (GO:0006953)|hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)|response to cytokine (GO:0034097)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		ATTAGGGCTTCCCGGGTCTGG	0.577																																							0											0													86.0	85.0	85.0					3																	52858575		2203	4300	6503	SO:0001587	stop_gained	0			D38535	CCDS2865.1, CCDS54596.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055955	ENSG00000055955			6169	protein-coding gene	gene with protein product	"""plasma Kallikrein-sensitive glycoprotein"""	600564	"""inter-alpha (globulin) inhibitor H4 (plasma Kallikrein-sensitive glycoprotein)"""	ITIHL1		9480842, 7805892	Standard	NM_002218		Approved	IHRP, H4P	uc003dfz.3	Q14624	OTTHUMG00000159023	ENST00000266041.4:c.883G>T	3.37:g.52858575C>A	ENSP00000266041:p.Glu295*		B7Z545|E9PGN5|Q15135|Q9P190|Q9UQ54	Nonsense_Mutation	SNP	pfam_VIT,pfam_ITI_HC_C,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.E295*	ENST00000266041.4	37	c.883	CCDS2865.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.649919|5.649919	0.96714|0.96714	.|.	.|.	ENSG00000055955|ENSG00000055955	ENST00000266041;ENST00000346281;ENST00000485816;ENST00000406595;ENST00000538421;ENST00000434759|ENST00000441637	.|.	.|.	.|.	5.35|5.35	5.35|5.35	0.76521|0.76521	.|.	0.164522|.	0.40908|.	D|.	0.000991|.	.|T	.|0.74718	.|0.3753	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73427	.|-0.3986	.|4	0.87932|.	D|.	0|.	-9.1338|-9.1338	18.6619|18.6619	0.91474|0.91474	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|V	295;295;295;295;283;207|152	.|.	ENSP00000266041:E295X|.	E|G	-|-	1|2	0|0	ITIH4|ITIH4	52833615|52833615	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.973000|0.973000	0.67179|0.67179	4.673000|4.673000	0.61604|0.61604	2.515000|2.515000	0.84797|0.84797	0.561000|0.561000	0.74099|0.74099	GAA|GGA	0	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.577	ITIH4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITIH4	protein_coding	OTTHUMT00000317715.1	35	365	0	0.00	0	0	C	NM_002218	0	0		52858575	-1	no_errors	ENST00000266041	ensembl	human	known	74_37	nonsense	19	115	32.14	42.86	9	87	SNP	0.996	A
SLC7A14	57709	genome.wustl.edu	37	3	170185016	170185016	+	Missense_Mutation	SNP	C	C	T	rs530931888		TCGA-ZB-A969-01A-11D-A428-09	TCGA-ZB-A969-11A-11D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f5d0ee62-548f-47f5-a81f-08283357a321	96120df2-4b62-4a53-abbb-2b7564156339	g.chr3:170185016C>T	ENST00000231706.5	-	8	2458	c.2143G>A	c.(2143-2145)Gag>Aag	p.E715K	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	715					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	amino acid transmembrane transporter activity (GO:0015171)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			TCCTGGCTCTCGCCCTCTGTG	0.582													C|||	1	0.000199681	0.0	0.0014	5008	,	,		14223	0.0		0.0	False		,,,				2504	0.0						0.9998,0.0001997											0													70.0	71.0	71.0					3																	170185016		2203	4300	6503	SO:0001583	missense	0			BC022968	CCDS33892.1	3q26.2	2014-06-13	2013-07-19		ENSG00000013293	ENSG00000013293		"""Solute carriers"""	29326	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 142"""	615720					Standard	NM_020949		Approved	KIAA1613, PPP1R142	uc003fgz.2	Q8TBB6	OTTHUMG00000158941	ENST00000231706.5:c.2143G>A	3.37:g.170185016C>T	ENSP00000231706:p.Glu715Lys		B3KV33|Q9HCF9	Missense_Mutation	SNP	pfam_AA-permease/SLC12A_dom	p.E715K	ENST00000231706.5	37	c.2143	CCDS33892.1	3	.	.	.	.	.	.	.	.	.	.	C	15.88	2.964812	0.53507	.	.	ENSG00000013293	ENST00000231706	D	0.88124	-2.34	5.76	5.76	0.90799	.	0.222646	0.41194	D	0.000937	T	0.76586	0.4008	N	0.19112	0.55	0.41941	D	0.990617	P	0.34587	0.458	B	0.22880	0.042	T	0.75238	-0.3388	10	0.10377	T	0.69	.	19.9576	0.97228	0.0:1.0:0.0:0.0	.	715	Q8TBB6	S7A14_HUMAN	K	715	ENSP00000231706:E715K	ENSP00000231706:E715K	E	-	1	0	SLC7A14	171667710	1.000000	0.71417	0.998000	0.56505	0.948000	0.59901	6.223000	0.72257	2.736000	0.93811	0.655000	0.94253	GAG	0	NULL		0.582	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A14	protein_coding	OTTHUMT00000352598.2	43	247	0	0.00	0	0	C	NM_020949	rs530931888	C->T		170185016	-1	no_errors	ENST00000231706	ensembl	human	known	74_37	missense	20	82	25.93	28.07	7	32	SNP	0.986	T
RP11-364P22.2	0	genome.wustl.edu	37	4	158559166	158559166	+	lincRNA	SNP	C	C	T			TCGA-ZB-A969-01A-11D-A428-09	TCGA-ZB-A969-11A-11D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f5d0ee62-548f-47f5-a81f-08283357a321	96120df2-4b62-4a53-abbb-2b7564156339	g.chr4:158559166C>T	ENST00000507296.1	+	0	328																											CCACCACCCGCGGCCACCATG	0.587																																							0											0																																												0																															4.37:g.158559166C>T				RNA	SNP	0	NULL	ENST00000507296.1	37	NULL		4																																																																																			0	0		0.587	RP11-364P22.2-001	KNOWN	basic	lincRNA	ENSG00000249275	lincRNA	OTTHUMT00000365220.1	22	27	0	0.00	0	0	C		0	0		158559166	1	no_errors	ENST00000507296	ensembl	human	known	74_37	rna	6	12	53.85	42.86	7	9	SNP	0	T
DNAH5	1767	genome.wustl.edu	37	5	13916560	13916560	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A969-01A-11D-A428-09	TCGA-ZB-A969-11A-11D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f5d0ee62-548f-47f5-a81f-08283357a321	96120df2-4b62-4a53-abbb-2b7564156339	g.chr5:13916560G>A	ENST00000265104.4	-	9	1198	c.1094C>T	c.(1093-1095)tCc>tTc	p.S365F		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	365	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ATCCATCATGGATAGCTGAAA	0.294									Kartagener syndrome																														0											0													57.0	59.0	58.0					5																	13916560		2202	4292	6494	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.1094C>T	5.37:g.13916560G>A	ENSP00000265104:p.Ser365Phe		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.S365F	ENST00000265104.4	37	c.1094	CCDS3882.1	5	.	.	.	.	.	.	.	.	.	.	G	16.66	3.184950	0.57909	.	.	ENSG00000039139	ENST00000265104	T	0.57273	0.41	5.26	5.26	0.73747	Dynein heavy chain, domain-1 (1);	0.192141	0.46758	D	0.000271	T	0.66819	0.2828	M	0.76574	2.34	0.49483	D	0.999799	B	0.32302	0.363	P	0.48488	0.579	T	0.68678	-0.5345	10	0.59425	D	0.04	.	13.5411	0.61674	0.0749:0.0:0.9251:0.0	.	365	Q8TE73	DYH5_HUMAN	F	365	ENSP00000265104:S365F	ENSP00000265104:S365F	S	-	2	0	DNAH5	13969560	1.000000	0.71417	0.991000	0.47740	0.595000	0.36748	5.414000	0.66405	2.607000	0.88179	0.655000	0.94253	TCC	0	pfam_Dynein_heavy_dom-1		0.294	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	protein_coding	OTTHUMT00000207057.2	152	217	0.65	0.00	1	0	G	NM_001369	0	0		13916560	-1	no_errors	ENST00000265104	ensembl	human	known	74_37	missense	72	116	47.83	42.29	66	85	SNP	0.975	A
DACT2	168002	genome.wustl.edu	37	6	168708585	168708585	+	Missense_Mutation	SNP	G	G	C			TCGA-ZB-A969-01A-11D-A428-09	TCGA-ZB-A969-11A-11D-A42B-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f5d0ee62-548f-47f5-a81f-08283357a321	96120df2-4b62-4a53-abbb-2b7564156339	g.chr6:168708585G>C	ENST00000366795.3	-	4	1940	c.1852C>G	c.(1852-1854)Cgg>Ggg	p.R618G	DACT2_ENST00000607983.1_Missense_Mutation_p.R210G|DACT2_ENST00000366796.3_Intron|DACT2_ENST00000610183.1_Missense_Mutation_p.R448G	NM_214462.3	NP_999627.2	Q5SW24	DACT2_HUMAN	dishevelled-binding antagonist of beta-catenin 2	618					epithelial cell morphogenesis (GO:0003382)|hematopoietic progenitor cell differentiation (GO:0002244)|inner medullary collecting duct development (GO:0072061)|negative regulation of cell adhesion (GO:0007162)|negative regulation of nodal signaling pathway (GO:1900108)|skin development (GO:0043588)	mitochondrion (GO:0005739)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)|transcription factor binding (GO:0008134)			endometrium(1)	1		Breast(66;1.46e-05)|Ovarian(120;0.0728)		OV - Ovarian serous cystadenocarcinoma(33;5.33e-21)|BRCA - Breast invasive adenocarcinoma(81;1.18e-06)|GBM - Glioblastoma multiforme(31;0.000957)		AGGCGGGCCCGGGCCGAGATC	0.701																																							0											0													10.0	14.0	13.0					6																	168708585		690	1590	2280	SO:0001583	missense	0			AF318336	CCDS47519.1, CCDS69241.1, CCDS75554.1	6q27	2013-05-15	2013-05-15	2003-09-17	ENSG00000164488	ENSG00000164488			21231	protein-coding gene	gene with protein product		608966	"""chromosome 6 open reading frame 116"", ""dapper homolog 2, antagonist of beta-catenin (xenopus)"", ""dapper, antagonist of beta-catenin, homolog 2 (Xenopus laevis)"""	C6orf116			Standard	NM_001286351		Approved	bA503C24.7, DAPPER2	uc003qwq.3	Q5SW24	OTTHUMG00000016046	ENST00000366795.3:c.1852C>G	6.37:g.168708585G>C	ENSP00000355760:p.Arg618Gly		Q2NKJ2|Q569G0|Q8WYW2	Missense_Mutation	SNP	NULL	p.R618G	ENST00000366795.3	37	c.1852	CCDS47519.1	6	.	.	.	.	.	.	.	.	.	.	G	13.27	2.185640	0.38609	.	.	ENSG00000164488	ENST00000366795	T	0.45668	0.89	3.68	-7.37	0.01412	.	1.850480	0.02711	N	0.112898	T	0.14442	0.0349	L	0.43152	1.355	0.09310	N	1	D	0.53312	0.959	P	0.45712	0.491	T	0.38329	-0.9666	10	0.56958	D	0.05	-3.3759	2.2772	0.04105	0.1134:0.2493:0.3799:0.2575	.	618	Q5SW24	DACT2_HUMAN	G	618	ENSP00000355760:R618G	ENSP00000355760:R618G	R	-	1	2	DACT2	168451434	0.001000	0.12720	0.000000	0.03702	0.010000	0.07245	0.670000	0.25157	-2.320000	0.00642	-1.083000	0.02208	CGG	0	NULL		0.701	DACT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DACT2	protein_coding	OTTHUMT00000043193.1	23	36	0	0.00	0	0	G		0	0		168708585	-1	no_errors	ENST00000366795	ensembl	human	known	74_37	missense	12	5	29.41	68.75	5	11	SNP	0.005	C
ELFN1	392617	genome.wustl.edu	37	7	1785871	1785871	+	Missense_Mutation	SNP	G	G	T			TCGA-ZB-A969-01A-11D-A428-09	TCGA-ZB-A969-11A-11D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f5d0ee62-548f-47f5-a81f-08283357a321	96120df2-4b62-4a53-abbb-2b7564156339	g.chr7:1785871G>T	ENST00000424383.2	+	3	2126	c.1639G>T	c.(1639-1641)Gac>Tac	p.D547Y	ELFN1_ENST00000541472.1_Intron|ELFN1_ENST00000561626.1_Missense_Mutation_p.D547Y			P0C7U0	ELFN1_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 1	547					negative regulation of phosphatase activity (GO:0010923)|synapse organization (GO:0050808)	dendrite (GO:0030425)|excitatory synapse (GO:0060076)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)			endometrium(1)	1						GCCGGGCCCCGACAGCCAGAG	0.647																																							0											0													26.0	32.0	30.0					7																	1785871		692	1591	2283	SO:0001583	missense	0				CCDS59046.1	7p22.3	2013-02-11	2011-10-27	2011-10-27	ENSG00000225968	ENSG00000225968		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"""	33154	protein-coding gene	gene with protein product		614964	"""extracellular leucine-rich repeat and fibronectin type III containing 1"", ""extracellular leucine-rich repeat and fibronectin type III domain containing 1"", ""protein phosphatase 1, regulatory subunit 28"""	PPP1R28		17868438	Standard	NM_001128636		Approved		uc010ksg.2	P0C7U0	OTTHUMG00000151495	ENST00000424383.2:c.1639G>T	7.37:g.1785871G>T	ENSP00000456548:p.Asp547Tyr		H3BS57	Missense_Mutation	SNP	superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.D547Y	ENST00000424383.2	37	c.1639	CCDS59046.1	7																																																																																			0	NULL		0.647	ELFN1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ELFN1	protein_coding	OTTHUMT00000322893.2	16	86	0	0.00	0	0	G	NM_001128636	0	0		1785871	1	no_errors	ENST00000424383	ensembl	human	known	74_37	missense	6	25	33.33	46.81	3	22	SNP	0.996	T
GTF2I	2969	genome.wustl.edu	37	7	74146970	74146970	+	Missense_Mutation	SNP	T	T	A			TCGA-ZB-A969-01A-11D-A428-09	TCGA-ZB-A969-11A-11D-A42B-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f5d0ee62-548f-47f5-a81f-08283357a321	96120df2-4b62-4a53-abbb-2b7564156339	g.chr7:74146970T>A	ENST00000324896.4	+	15	1660	c.1271T>A	c.(1270-1272)cTt>cAt	p.L424H	GTF2I_ENST00000416070.1_Missense_Mutation_p.L383H|GTF2I_ENST00000353920.4_Missense_Mutation_p.L404H|GTF2I_ENST00000346152.4_Missense_Mutation_p.L403H	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	424					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						AGGATATTACTTGCAAAGGAA	0.378																																							0											0													13.0	13.0	13.0					7																	74146970		1741	3768	5509	SO:0001583	missense	0			U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"""General transcription factors"""	4659	protein-coding gene	gene with protein product		601679	"""general transcription factor II, i"""	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.1271T>A	7.37:g.74146970T>A	ENSP00000322542:p.Leu424His		O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Missense_Mutation	SNP	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I	p.L424H	ENST00000324896.4	37	c.1271	CCDS5573.1	7	.	.	.	.	.	.	.	.	.	.	T	18.18	3.565904	0.65651	.	.	ENSG00000077809	ENST00000324896;ENST00000539339;ENST00000353920;ENST00000346152;ENST00000416070	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	4.72	4.72	0.59763	.	0.110120	0.39544	N	0.001322	T	0.37019	0.0988	N	0.14661	0.345	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;0.999	D;D;P;D;D	0.74348	0.983;0.979;0.874;0.971;0.963	T	0.36089	-0.9762	10	0.56958	D	0.05	-16.5588	13.3771	0.60745	0.0:0.0:0.0:1.0	.	402;383;404;403;424	Q499G6;P78347-2;P78347-3;P78347-4;P78347	.;.;.;.;GTF2I_HUMAN	H	424;419;404;403;383	ENSP00000322542:L424H;ENSP00000322671:L404H;ENSP00000322599:L403H;ENSP00000387651:L383H	ENSP00000322542:L424H	L	+	2	0	GTF2I	73784906	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.342000	0.65970	1.753000	0.51906	0.477000	0.44152	CTT	0	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I		0.378	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GTF2I	protein_coding	OTTHUMT00000252708.1	554	170	0	0.00	0	0	T	NM_032999	0	0		74146970	1	no_errors	ENST00000324896	ensembl	human	known	74_37	missense	236	96	42.89	34.25	178	50	SNP	1	A
WNK2	65268	genome.wustl.edu	37	9	96052266	96052266	+	Missense_Mutation	SNP	A	A	G			TCGA-ZB-A969-01A-11D-A428-09	TCGA-ZB-A969-11A-11D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f5d0ee62-548f-47f5-a81f-08283357a321	96120df2-4b62-4a53-abbb-2b7564156339	g.chr9:96052266A>G	ENST00000297954.4	+	21	4984	c.4984A>G	c.(4984-4986)Aag>Gag	p.K1662E	WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000395477.2_Missense_Mutation_p.K1625E|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000427277.2_Missense_Mutation_p.K1237E|WNK2_ENST00000349097.3_Missense_Mutation_p.K1274E	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1662					intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CCAGGTGGAGAAGTCAGAACT	0.542																																							0											0													57.0	44.0	48.0					9																	96052266		2194	4291	6485	SO:0001583	missense	0			AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"""serologically defined colon cancer antigen 43"""	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.4984A>G	9.37:g.96052266A>G	ENSP00000297954:p.Lys1662Glu		Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.K1662E	ENST00000297954.4	37	c.4984		9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.8|23.8	4.453779|4.453779	0.84209|0.84209	.|.	.|.	ENSG00000165238|ENSG00000165238	ENST00000411624|ENST00000297954;ENST00000395477;ENST00000349097;ENST00000427277	T|T;T;T;T	0.62498|0.70164	0.02|-0.46;-0.42;0.15;0.17	3.88|3.88	2.75|2.75	0.32379|0.32379	.|.	.|0.240902	.|0.40385	.|N	.|0.001108	T|T	0.71508|0.71508	0.3348|0.3348	M|M	0.61703|0.61703	1.905|1.905	0.80722|0.80722	D|D	1|1	.|D;D;B;D;D	.|0.62365	.|0.977;0.983;0.009;0.99;0.991	.|P;P;B;D;P	.|0.72982	.|0.721;0.628;0.007;0.979;0.815	T|T	0.68262|0.68262	-0.5455|-0.5455	7|10	0.25106|0.13108	T|T	0.35|0.6	.|.	5.7661|5.7661	0.18227|0.18227	0.8804:0.0:0.1196:0.0|0.8804:0.0:0.1196:0.0	.|.	.|1625;1620;1228;1625;1662	.|Q9Y3S1-2;A6PVR3;A6PVR4;F8W9F9;Q9Y3S1	.|.;.;.;.;WNK2_HUMAN	G|E	1228|1662;1625;1274;1237	ENSP00000414622:E1228G|ENSP00000297954:K1662E;ENSP00000378860:K1625E;ENSP00000297876:K1274E;ENSP00000411181:K1237E	ENSP00000414622:E1228G|ENSP00000297954:K1662E	E|K	+|+	2|1	0|0	WNK2|WNK2	95092087|95092087	0.028000|0.028000	0.19301|0.19301	0.765000|0.765000	0.31456|0.31456	0.840000|0.840000	0.47671|0.47671	0.920000|0.920000	0.28705|0.28705	0.853000|0.853000	0.35312|0.35312	0.459000|0.459000	0.35465|0.35465	GAA|AAG	0	NULL		0.542	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	WNK2	protein_coding	OTTHUMT00000317359.1	21	169	0	0.00	0	0	A	NM_006648	0	0		96052266	1	no_errors	ENST00000297954	ensembl	human	known	74_37	missense	7	79	53.33	37.30	8	47	SNP	0.846	G
PHPT1	29085	genome.wustl.edu	37	9	139748159	139748159	+	IGR	SNP	C	C	T			TCGA-ZB-A969-01A-11D-A428-09	TCGA-ZB-A969-11A-11D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f5d0ee62-548f-47f5-a81f-08283357a321	96120df2-4b62-4a53-abbb-2b7564156339	g.chr9:139748159C>T	ENST00000247665.10	+	0	890				MAMDC4_ENST00000317446.2_Intron|MAMDC4_ENST00000485732.1_3'UTR|MAMDC4_ENST00000445819.1_Intron	NM_014172.4	NP_054891.2	Q9NRX4	PHP14_HUMAN	phosphohistidine phosphatase 1						negative regulation of ATP citrate synthase activity (GO:2000984)|negative regulation of lyase activity (GO:0051350)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-histidine dephosphorylation (GO:0035971)|positive regulation of cell motility (GO:2000147)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|protein dephosphorylation (GO:0006470)|regulation of actin cytoskeleton reorganization (GO:2000249)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	calcium channel inhibitor activity (GO:0019855)|ion channel binding (GO:0044325)|phosphohistidine phosphatase activity (GO:0008969)|phosphoprotein phosphatase activity (GO:0004721)			NS(1)|large_intestine(1)|lung(1)	3	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		GGGGGGTGCCCAAGGGGAGGG	0.687																																							0											0													7.0	9.0	8.0					9																	139748159		2090	4110	6200	SO:0001628	intergenic_variant	0			AF131857	CCDS7009.1, CCDS48060.1	9q34.3	2008-02-05			ENSG00000054148	ENSG00000054148	3.1.3.-		30033	protein-coding gene	gene with protein product	"""phosphohistidine phosphatase 14kDa"", "" sex-regulated protein janus-a"""	610167				11042152, 8619474	Standard	NM_014172		Approved	PHP14, HSPC141, CGI-202, DKFZp564M173, bA216L13.10	uc004cjq.4	Q9NRX4	OTTHUMG00000020950		9.37:g.139748159C>T			B1AMX0|B1AMX1|Q9H0Y3	RNA	SNP	0	NULL	ENST00000247665.10	37	NULL	CCDS7009.1	9																																																																																			0	0		0.687	PHPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAMDC4	protein_coding	OTTHUMT00000055150.1	36	41	0	0.00	0	0	C	NM_014172	0	0		139748159	1	no_errors	ENST00000485732	ensembl	human	known	74_37	rna	17	12	38.71	43.48	12	10	SNP	0.001	T
OR4C16	219428	genome.wustl.edu	37	11	55339695	55339695	+	Missense_Mutation	SNP	G	G	A	rs374191202		TCGA-ZB-A969-01A-11D-A428-09	TCGA-ZB-A969-11A-11D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f5d0ee62-548f-47f5-a81f-08283357a321	96120df2-4b62-4a53-abbb-2b7564156339	g.chr11:55339695G>A	ENST00000314634.3	+	1	92	c.92G>A	c.(91-93)cGt>cAt	p.R31H		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	31						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R31H(2)|p.R31L(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				ATTTTTTTGCGTCTCTACTTG	0.368													g|||	1	0.000199681	0.0	0.0	5008	,	,		18843	0.0		0.0	False		,,,				2504	0.001						0.9998,0.0001997,.											3	Substitution - Missense(3)	prostate(2)|lung(1)											189.0	177.0	181.0					11																	55339695		2201	4296	6497	SO:0001583	missense	0			AB065773	CCDS31502.1	11q11	2013-10-10	2013-10-10		ENSG00000181935	ENSG00000181935		"""GPCR / Class A : Olfactory receptors"""	15172	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily C, member 16"""				Standard	NM_001004701		Approved		uc010rih.2	Q8NGL9	OTTHUMG00000165198	ENST00000314634.3:c.92G>A	11.37:g.55339695G>A	ENSP00000324913:p.Arg31His		Q6IEV8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R31H	ENST00000314634.3	37	c.92	CCDS31502.1	11	.	.	.	.	.	.	.	.	.	.	G	11.03	1.519004	0.27211	.	.	ENSG00000181935	ENST00000314634	T	0.00438	7.42	4.98	3.85	0.44370	.	2.239510	0.01631	N	0.023546	T	0.00300	0.0009	N	0.14661	0.345	0.09310	N	1	B	0.25351	0.124	B	0.12837	0.008	T	0.47156	-0.9139	10	0.87932	D	0	.	9.0123	0.36148	0.0:0.0:0.1863:0.8137	.	31	Q8NGL9	OR4CG_HUMAN	H	31	ENSP00000324913:R31H	ENSP00000324913:R31H	R	+	2	0	OR4C16	55096271	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-0.003000	0.12901	0.915000	0.36847	-0.425000	0.05940	CGT	0	prints_GPCR_Rhodpsn		0.368	OR4C16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C16	protein_coding	OTTHUMT00000382627.1	76	339	0	0.29	0	1	G	NM_001004701	rs374191202	G->A,T		55339695	1	no_errors	ENST00000314634	ensembl	human	known	74_37	missense	34	142	43.55	33.94	27	74	SNP	0	A
MAP4K2	5871	genome.wustl.edu	37	11	64563812	64563812	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A969-01A-11D-A428-09	TCGA-ZB-A969-11A-11D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f5d0ee62-548f-47f5-a81f-08283357a321	96120df2-4b62-4a53-abbb-2b7564156339	g.chr11:64563812G>A	ENST00000294066.2	-	24	1775	c.1684C>T	c.(1684-1686)Cgg>Tgg	p.R562W	MAP4K2_ENST00000377350.3_Missense_Mutation_p.R554W	NM_004579.3	NP_004570.2	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase kinase 2	562	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				activation of JUN kinase activity (GO:0007257)|immune response (GO:0006955)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|positive regulation of JNK cascade (GO:0046330)|protein phosphorylation (GO:0006468)|vesicle targeting (GO:0006903)	Golgi membrane (GO:0000139)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						TGTAGCCTCCGCTGCTCAAAC	0.637																																							0											0													87.0	88.0	88.0					11																	64563812		2201	4297	6498	SO:0001583	missense	0			BC047865	CCDS8082.1	11q13.1	2011-06-09			ENSG00000168067	ENSG00000168067		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6864	protein-coding gene	gene with protein product		603166		RAB8IP		7515885	Standard	NM_004579		Approved	GCK, BL44	uc001obh.3	Q12851	OTTHUMG00000045328	ENST00000294066.2:c.1684C>T	11.37:g.64563812G>A	ENSP00000294066:p.Arg562Trp		Q86VU3	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom	p.R562W	ENST00000294066.2	37	c.1684	CCDS8082.1	11	.	.	.	.	.	.	.	.	.	.	G	19.66	3.868526	0.72065	.	.	ENSG00000168067	ENST00000294066;ENST00000377350	T;T	0.05025	3.51;3.51	4.34	4.34	0.51931	Citron-like (3);	0.000000	0.85682	D	0.000000	T	0.18299	0.0439	L	0.50333	1.59	0.52501	D	0.99995	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.00219	-1.1907	10	0.66056	D	0.02	.	12.2627	0.54660	0.0:0.0:1.0:0.0	.	554;562	Q86VU3;Q12851	.;M4K2_HUMAN	W	562;554	ENSP00000294066:R562W;ENSP00000366567:R554W	ENSP00000294066:R562W	R	-	1	2	MAP4K2	64320388	0.885000	0.30320	0.996000	0.52242	0.954000	0.61252	1.188000	0.32102	2.261000	0.74972	0.456000	0.33151	CGG	0	pfam_Citron,smart_Citron		0.637	MAP4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP4K2	protein_coding	OTTHUMT00000105239.1	44	193	0	0.00	0	0	G	NM_004579	0	0		64563812	-1	no_errors	ENST00000294066	ensembl	human	known	74_37	missense	28	59	37.78	52.42	17	65	SNP	1	A
TBCEL	219899	genome.wustl.edu	37	11	120957785	120957785	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A969-01A-11D-A428-09	TCGA-ZB-A969-11A-11D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f5d0ee62-548f-47f5-a81f-08283357a321	96120df2-4b62-4a53-abbb-2b7564156339	g.chr11:120957785G>A	ENST00000529397.1	+	8	1355	c.1255G>A	c.(1255-1257)Gtg>Atg	p.V419M	TBCEL_ENST00000422003.2_Missense_Mutation_p.V419M	NM_001130047.1	NP_001123519.1	Q5QJ74	TBCEL_HUMAN	tubulin folding cofactor E-like	419	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)			TECTA/TBCEL(2)	endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)		TAAAATTTACGTGGAATCCAA	0.408																																							0											0													46.0	46.0	46.0					11																	120957785		2203	4298	6501	SO:0001583	missense	0			BC020501	CCDS31692.1	11q23.3	2008-02-05	2006-11-21	2006-11-21		ENSG00000154114			28115	protein-coding gene	gene with protein product		610451	"""leucine rich repeat containing 35"", ""tubulin-specific chaperone e-like"""	LRRC35		15728251	Standard	NM_152715		Approved	MGC10233	uc001pxo.3	Q5QJ74		ENST00000529397.1:c.1255G>A	11.37:g.120957785G>A	ENSP00000437184:p.Val419Met		Q0VAN6	Missense_Mutation	SNP	pfscan_Ubiquitin_supergroup	p.V419M	ENST00000529397.1	37	c.1255	CCDS31692.1	11	.	.	.	.	.	.	.	.	.	.	G	29.4	4.999484	0.93227	.	.	ENSG00000154114	ENST00000529397;ENST00000422003;ENST00000533169	T;T	0.45276	0.9;0.9	5.69	5.69	0.88448	Ubiquitin supergroup (1);	0.054200	0.64402	D	0.000001	T	0.65964	0.2742	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.71870	0.975	T	0.67757	-0.5588	10	0.87932	D	0	-12.0098	19.8262	0.96618	0.0:0.0:1.0:0.0	.	419	Q5QJ74	TBCEL_HUMAN	M	419;419;222	ENSP00000437184:V419M;ENSP00000403925:V419M	ENSP00000403925:V419M	V	+	1	0	TBCEL	120462995	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.297000	0.78799	2.676000	0.91093	0.655000	0.94253	GTG	0	pfscan_Ubiquitin_supergroup		0.408	TBCEL-005	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	TBCEL	protein_coding	OTTHUMT00000387688.1	109	492	0	0.00	0	0	G	NM_152715	0	0		120957785	1	no_errors	ENST00000422003	ensembl	human	known	74_37	missense	56	185	42.42	39.94	42	123	SNP	1	A
TMEM132D	121256	genome.wustl.edu	37	12	130185157	130185157	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A969-01A-11D-A428-09	TCGA-ZB-A969-11A-11D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f5d0ee62-548f-47f5-a81f-08283357a321	96120df2-4b62-4a53-abbb-2b7564156339	g.chr12:130185157C>T	ENST00000422113.2	-	2	492	c.166G>A	c.(166-168)Gcg>Acg	p.A56T	RP11-174M13.2_ENST00000544036.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	56					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GAGACGTCCGCGTTGTTGATG	0.552																																							0											0													93.0	70.0	77.0					12																	130185157		2203	4300	6503	SO:0001583	missense	0			AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.166G>A	12.37:g.130185157C>T	ENSP00000408581:p.Ala56Thr		Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	NULL	p.A56T	ENST00000422113.2	37	c.166	CCDS9266.1	12	.	.	.	.	.	.	.	.	.	.	C	13.73	2.323844	0.41096	.	.	ENSG00000151952	ENST00000422113	T	0.14640	2.49	5.33	4.44	0.53790	.	0.323515	0.26463	N	0.024223	T	0.27205	0.0667	L	0.59436	1.845	0.41431	D	0.987863	D	0.76494	0.999	P	0.56865	0.808	T	0.01621	-1.1310	9	.	.	.	-41.0693	14.1315	0.65257	0.0:0.9274:0.0:0.0726	.	56	Q14C87	T132D_HUMAN	T	56	ENSP00000408581:A56T	.	A	-	1	0	TMEM132D	128751110	1.000000	0.71417	0.029000	0.17559	0.824000	0.46624	3.952000	0.56691	1.228000	0.43614	0.555000	0.69702	GCG	0	NULL		0.552	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM132D	protein_coding	OTTHUMT00000399592.1	54	233	0	0.00	0	0	C	NM_133448	0	0		130185157	-1	no_errors	ENST00000422113	ensembl	human	known	74_37	missense	34	106	32	27.89	16	41	SNP	0.992	T
ITGBL1	9358	genome.wustl.edu	37	13	102227854	102227854	+	Silent	SNP	C	C	T			TCGA-ZB-A969-01A-11D-A428-09	TCGA-ZB-A969-11A-11D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f5d0ee62-548f-47f5-a81f-08283357a321	96120df2-4b62-4a53-abbb-2b7564156339	g.chr13:102227854C>T	ENST00000376180.3	+	4	762	c.543C>T	c.(541-543)gaC>gaT	p.D181D	ITGBL1_ENST00000376162.3_Silent_p.D88D|ITGBL1_ENST00000545560.2_Silent_p.D40D	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	181	Cysteine-rich tandem repeats.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)				breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GTGAGTGTGACGATAGAGAAT	0.348																																							0											0													263.0	241.0	249.0					13																	102227854		2203	4300	6503	SO:0001819	synonymous_variant	0			AF072752	CCDS9499.1, CCDS61361.1, CCDS61362.1, CCDS73594.1	13q33	2008-07-18			ENSG00000198542	ENSG00000198542			6164	protein-coding gene	gene with protein product	"""ten integrin EGF-like repeat domains protein"", ""ITGBL1, integrin beta-like 1"""	604234				10051402	Standard	NM_004791		Approved	TIED, OSCP	uc001vpb.4	O95965	OTTHUMG00000017296	ENST00000376180.3:c.543C>T	13.37:g.102227854C>T			A8K5M5|B3KTP1|B4DQ02|Q8N172|Q9NPR0	Silent	SNP	pfam_EGF_extracell,smart_EG-like_dom	p.D181	ENST00000376180.3	37	c.543	CCDS9499.1	13																																																																																			0	NULL		0.348	ITGBL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGBL1	protein_coding	OTTHUMT00000045669.2	198	286	0	0.69	0	2	C	NM_004791	0	0		102227854	1	no_errors	ENST00000376180	ensembl	human	known	74_37	silent	76	127	43.7	36.32	59	73	SNP	0.997	T
SAFB2	9667	genome.wustl.edu	37	19	5591761	5591761	+	Missense_Mutation	SNP	G	G	C			TCGA-ZB-A969-01A-11D-A428-09	TCGA-ZB-A969-11A-11D-A42B-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f5d0ee62-548f-47f5-a81f-08283357a321	96120df2-4b62-4a53-abbb-2b7564156339	g.chr19:5591761G>C	ENST00000252542.4	-	17	2656	c.2392C>G	c.(2392-2394)Cag>Gag	p.Q798E		NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	798	Gly-rich.|Interacts with SAFB1.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		CTACTCACCTGCCCATCCCGG	0.592																																					Ovarian(127;888 1728 23957 44128 52668)		0											0													85.0	68.0	74.0					19																	5591761		2203	4300	6503	SO:0001583	missense	0			D50928	CCDS32879.1	19p13.3	2013-02-12				ENSG00000130254		"""RNA binding motif (RRM) containing"""	21605	protein-coding gene	gene with protein product		608066				12660241	Standard	NM_014649		Approved	KIAA0138	uc002mcd.3	Q14151		ENST00000252542.4:c.2392C>G	19.37:g.5591761G>C	ENSP00000252542:p.Gln798Glu		B4DKG3|Q8TB13	Missense_Mutation	SNP	pfam_RRM_dom,pfam_SAP_dom,smart_SAP_dom,smart_RRM_dom,pfscan_SAP_dom,pfscan_RRM_dom	p.Q798E	ENST00000252542.4	37	c.2392	CCDS32879.1	19	.	.	.	.	.	.	.	.	.	.	G	10.69	1.419979	0.25552	.	.	ENSG00000130254	ENST00000252542	T	0.08896	3.04	4.11	4.11	0.48088	.	0.000000	0.46145	D	0.000318	T	0.10895	0.0266	M	0.66939	2.045	0.40414	D	0.97977	B	0.32918	0.39	B	0.29176	0.099	T	0.07790	-1.0754	10	0.37606	T	0.19	-34.2596	13.1121	0.59278	0.0:0.0:1.0:0.0	.	798	Q14151	SAFB2_HUMAN	E	798	ENSP00000252542:Q798E	ENSP00000252542:Q798E	Q	-	1	0	SAFB2	5542761	1.000000	0.71417	0.998000	0.56505	0.198000	0.23893	5.999000	0.70665	1.846000	0.53633	0.462000	0.41574	CAG	0	NULL		0.592	SAFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAFB2	protein_coding	OTTHUMT00000451016.1	47	122	0	0.00	0	0	G	NM_014649	0	0		5591761	-1	no_errors	ENST00000252542	ensembl	human	known	74_37	missense	24	56	52	41.05	26	39	SNP	1	C
DUS3L	56931	genome.wustl.edu	37	19	5787673	5787673	+	Missense_Mutation	SNP	A	A	G			TCGA-ZB-A969-01A-11D-A428-09	TCGA-ZB-A969-11A-11D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f5d0ee62-548f-47f5-a81f-08283357a321	96120df2-4b62-4a53-abbb-2b7564156339	g.chr19:5787673A>G	ENST00000309061.7	-	6	1235	c.1139T>C	c.(1138-1140)cTg>cCg	p.L380P	CTB-54O9.9_ENST00000586012.1_5'Flank|DUS3L_ENST00000320699.8_Missense_Mutation_p.L138P|DUS3L_ENST00000590681.1_5'Flank|PRR22_ENST00000419421.2_5'Flank	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	380							flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA dihydrouridine synthase activity (GO:0017150)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						GCGGCTCAGCAGCTCGGCACA	0.632																																							0											0													162.0	140.0	147.0					19																	5787673		2203	4300	6503	SO:0001583	missense	0				CCDS32880.1, CCDS54202.1	19p13.3	2014-02-12			ENSG00000141994	ENSG00000141994			26920	protein-coding gene	gene with protein product						12477932	Standard	NM_020175		Approved	DUS3, FLJ13896	uc002mdc.3	Q96G46	OTTHUMG00000162311	ENST00000309061.7:c.1139T>C	19.37:g.5787673A>G	ENSP00000311977:p.Leu380Pro		Q96HM5|Q9BSU4|Q9H877|Q9NPR1	Missense_Mutation	SNP	pfam_tRNA_hU_synthase	p.L380P	ENST00000309061.7	37	c.1139	CCDS32880.1	19	.	.	.	.	.	.	.	.	.	.	A	18.99	3.738955	0.69304	.	.	ENSG00000141994	ENST00000309061;ENST00000320699	T;T	0.27720	1.65;1.65	3.61	3.61	0.41365	Aldolase-type TIM barrel (1);	0.000000	0.64402	U	0.000004	T	0.60117	0.2244	M	0.91920	3.255	0.80722	D	1	D;D	0.76494	0.993;0.999	D;D	0.77557	0.976;0.99	T	0.67612	-0.5626	10	0.87932	D	0	-30.566	10.3207	0.43764	1.0:0.0:0.0:0.0	.	138;380	Q96G46-3;Q96G46	.;DUS3L_HUMAN	P	380;138	ENSP00000311977:L380P;ENSP00000315558:L138P	ENSP00000311977:L380P	L	-	2	0	DUS3L	5738673	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	8.920000	0.92779	1.322000	0.45245	0.369000	0.22263	CTG	0	pfam_tRNA_hU_synthase		0.632	DUS3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUS3L	protein_coding	OTTHUMT00000451870.2	17	185	0	0.00	0	0	A	NM_020175	0	0		5787673	-1	no_errors	ENST00000309061	ensembl	human	known	74_37	missense	17	62	32	25.30	8	21	SNP	1	G
ZNF569	148266	genome.wustl.edu	37	19	37903959	37903959	+	Missense_Mutation	SNP	A	A	G			TCGA-ZB-A969-01A-11D-A428-09	TCGA-ZB-A969-11A-11D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f5d0ee62-548f-47f5-a81f-08283357a321	96120df2-4b62-4a53-abbb-2b7564156339	g.chr19:37903959A>G	ENST00000316950.6	-	6	2158	c.1601T>C	c.(1600-1602)aTt>aCt	p.I534T	ZNF569_ENST00000392149.2_Missense_Mutation_p.I534T|ZNF569_ENST00000392150.2_Missense_Mutation_p.I375T	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	534					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AAGGGATGCAATTTGAGAGAA	0.373																																							0											0													97.0	95.0	95.0					19																	37903959		2203	4300	6503	SO:0001583	missense	0			AL833408	CCDS12503.1	19q13.12	2013-09-20			ENSG00000196437	ENSG00000196437		"""Zinc fingers, C2H2-type"", ""-"""	24737	protein-coding gene	gene with protein product		613904				12477932	Standard	NM_152484		Approved	FLJ32053, ZAP1	uc002ogi.3	Q5MCW4	OTTHUMG00000048172	ENST00000316950.6:c.1601T>C	19.37:g.37903959A>G	ENSP00000325018:p.Ile534Thr		A8K1S2|Q15925|Q17RR6|Q96MQ2	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.I534T	ENST00000316950.6	37	c.1601	CCDS12503.1	19	.	.	.	.	.	.	.	.	.	.	A	8.313	0.822630	0.16678	.	.	ENSG00000196437	ENST00000316950;ENST00000392149;ENST00000392150	T;T	0.37058	1.22;1.22	4.1	1.73	0.24493	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.33059	0.0850	N	0.08118	0	0.09310	N	1	B;P	0.50156	0.005;0.932	B;P	0.61397	0.002;0.888	T	0.25916	-1.0118	9	0.31617	T	0.26	.	10.2585	0.43412	0.5607:0.4393:0.0:0.0	.	375;534	Q17RR6;Q5MCW4	.;ZN569_HUMAN	T	534;190;375	ENSP00000325018:I534T;ENSP00000375993:I375T	ENSP00000325018:I534T	I	-	2	0	ZNF569	42595799	0.000000	0.05858	0.510000	0.27712	0.971000	0.66376	-1.507000	0.02268	0.683000	0.31428	0.533000	0.62120	ATT	0	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.373	ZNF569-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF569	protein_coding	OTTHUMT00000109594.2	98	257	0	0.00	0	0	A	NM_152484	0	0		37903959	-1	no_errors	ENST00000316950	ensembl	human	known	74_37	missense	39	109	38.1	40.22	24	74	SNP	0	G
ZNF574	64763	genome.wustl.edu	37	19	42584756	42584756	+	Silent	SNP	C	C	G			TCGA-ZB-A969-01A-11D-A428-09	TCGA-ZB-A969-11A-11D-A42B-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f5d0ee62-548f-47f5-a81f-08283357a321	96120df2-4b62-4a53-abbb-2b7564156339	g.chr19:42584756C>G	ENST00000600245.1	+	2	2653	c.1998C>G	c.(1996-1998)cgC>cgG	p.R666R	ZNF574_ENST00000222339.7_Silent_p.R756R|CTB-59C6.3_ENST00000594531.1_RNA|ZNF574_ENST00000359044.4_Silent_p.R666R			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	666	Ala-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				CCCCACGGCGCTTTGAGTGTG	0.697																																							0											0													31.0	36.0	34.0					19																	42584756		2197	4287	6484	SO:0001819	synonymous_variant	0			AK074788	CCDS12596.1	19q13.2	2013-09-20			ENSG00000105732	ENSG00000105732		"""Zinc fingers, C2H2-type"""	26166	protein-coding gene	gene with protein product						12477932	Standard	NM_022752		Approved	FLJ22059	uc002osm.4	Q6ZN55	OTTHUMG00000182751	ENST00000600245.1:c.1998C>G	19.37:g.42584756C>G			Q6IPE0|Q6ZN10|Q7L5Z5|Q8NCE3|Q9H6N0	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R756	ENST00000600245.1	37	c.2268	CCDS12596.1	19																																																																																			0	NULL		0.697	ZNF574-002	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	ZNF574	protein_coding	OTTHUMT00000463458.1	18	36	0	0.00	0	0	C	NM_022752	0	0		42584756	1	no_errors	ENST00000222339	ensembl	human	known	74_37	silent	6	12	68.42	47.83	13	11	SNP	0.999	G
BACH1	571	genome.wustl.edu	37	21	30699208	30699208	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A969-01A-11D-A428-09	TCGA-ZB-A969-11A-11D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f5d0ee62-548f-47f5-a81f-08283357a321	96120df2-4b62-4a53-abbb-2b7564156339	g.chr21:30699208G>A	ENST00000399921.1	+	3	1306	c.1063G>A	c.(1063-1065)Gac>Aac	p.D355N	BACH1_ENST00000286800.3_Missense_Mutation_p.D355N	NM_206866.1	NP_996749.1	Q9BX63	FANCJ_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	0	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						GTCAGGTACAGACGTCCAAGA	0.393																																							0											0													90.0	89.0	89.0					21																	30699208		2203	4300	6503	SO:0001583	missense	0			AF026200	CCDS13585.1	21q22.1	2013-01-10			ENSG00000156273	ENSG00000156273		"""BTB/POZ domain containing"", ""basic leucine zipper proteins"""	935	protein-coding gene	gene with protein product		602751				9544839, 9479503	Standard	NR_027655		Approved	BACH-1, BTBD24	uc002ynj.3	O14867	OTTHUMG00000078878	ENST00000399921.1:c.1063G>A	21.37:g.30699208G>A	ENSP00000382805:p.Asp355Asn		Q3MJE2|Q8NCI5	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_bZIP,superfamily_BTB/POZ_fold,superfamily_TF_DNA-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP	p.D355N	ENST00000399921.1	37	c.1063	CCDS13585.1	21	.	.	.	.	.	.	.	.	.	.	G	6.406	0.442971	0.12164	.	.	ENSG00000156273	ENST00000286800;ENST00000399921	T;T	0.72615	-0.67;-0.67	5.65	4.75	0.60458	.	0.526840	0.21151	N	0.079322	T	0.57080	0.2029	L	0.29908	0.895	0.09310	N	1	B	0.16396	0.017	B	0.08055	0.003	T	0.38714	-0.9648	10	0.27785	T	0.31	-9.4332	12.5052	0.55977	0.1292:0.0:0.8708:0.0	.	355	O14867	BACH1_HUMAN	N	355	ENSP00000286800:D355N;ENSP00000382805:D355N	ENSP00000286800:D355N	D	+	1	0	BACH1	29621079	0.009000	0.17119	0.021000	0.16686	0.148000	0.21650	1.412000	0.34714	2.941000	0.99782	0.655000	0.94253	GAC	0	NULL		0.393	BACH1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BACH1	protein_coding	OTTHUMT00000171974.1	35	480	0	0.00	0	0	G	NM_206866	0	0		30699208	1	no_errors	ENST00000286800	ensembl	human	known	74_37	missense	25	188	48.98	58.95	24	270	SNP	0.008	A
BACH1	571	genome.wustl.edu	37	21	30699241	30699241	+	Missense_Mutation	SNP	G	G	A	rs150792794		TCGA-ZB-A969-01A-11D-A428-09	TCGA-ZB-A969-11A-11D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f5d0ee62-548f-47f5-a81f-08283357a321	96120df2-4b62-4a53-abbb-2b7564156339	g.chr21:30699241G>A	ENST00000399921.1	+	3	1339	c.1096G>A	c.(1096-1098)Gat>Aat	p.D366N	BACH1_ENST00000286800.3_Missense_Mutation_p.D366N	NM_206866.1	NP_996749.1	Q9BX63	FANCJ_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	0	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						TGAAAGTCAGGATTTACCTTT	0.428																																							0											0													78.0	76.0	76.0					21																	30699241		2203	4300	6503	SO:0001583	missense	0			AF026200	CCDS13585.1	21q22.1	2013-01-10			ENSG00000156273	ENSG00000156273		"""BTB/POZ domain containing"", ""basic leucine zipper proteins"""	935	protein-coding gene	gene with protein product		602751				9544839, 9479503	Standard	NR_027655		Approved	BACH-1, BTBD24	uc002ynj.3	O14867	OTTHUMG00000078878	ENST00000399921.1:c.1096G>A	21.37:g.30699241G>A	ENSP00000382805:p.Asp366Asn		Q3MJE2|Q8NCI5	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_bZIP,superfamily_BTB/POZ_fold,superfamily_TF_DNA-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP	p.D366N	ENST00000399921.1	37	c.1096	CCDS13585.1	21	.	.	.	.	.	.	.	.	.	.	G	7.621	0.676890	0.14841	.	.	ENSG00000156273	ENST00000286800;ENST00000399921	T;T	0.71934	-0.61;-0.61	5.32	4.44	0.53790	.	0.436377	0.25264	N	0.031936	T	0.49184	0.1542	N	0.19112	0.55	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.26710	-1.0095	10	0.06236	T	0.91	-15.5001	9.8655	0.41140	0.0726:0.1392:0.7882:0.0	.	366	O14867	BACH1_HUMAN	N	366	ENSP00000286800:D366N;ENSP00000382805:D366N	ENSP00000286800:D366N	D	+	1	0	BACH1	29621112	0.992000	0.36948	0.190000	0.23270	0.210000	0.24377	2.469000	0.45110	1.631000	0.50456	0.655000	0.94253	GAT	0	NULL		0.428	BACH1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BACH1	protein_coding	OTTHUMT00000171974.1	33	461	0	0.00	0	0	G	NM_206866	0	0		30699241	1	no_errors	ENST00000286800	ensembl	human	known	74_37	missense	25	183	45.65	57.74	21	250	SNP	0.016	A
BACH1	571	genome.wustl.edu	37	21	30699274	30699274	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ZB-A969-01A-11D-A428-09	TCGA-ZB-A969-11A-11D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f5d0ee62-548f-47f5-a81f-08283357a321	96120df2-4b62-4a53-abbb-2b7564156339	g.chr21:30699274G>T	ENST00000399921.1	+	3	1372	c.1129G>T	c.(1129-1131)Gaa>Taa	p.E377*	BACH1_ENST00000286800.3_Nonsense_Mutation_p.E377*	NM_206866.1	NP_996749.1	Q9BX63	FANCJ_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	0	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						GGGCACCAGGGAAGATAGTAG	0.453																																							0											0													74.0	70.0	72.0					21																	30699274		2203	4300	6503	SO:0001587	stop_gained	0			AF026200	CCDS13585.1	21q22.1	2013-01-10			ENSG00000156273	ENSG00000156273		"""BTB/POZ domain containing"", ""basic leucine zipper proteins"""	935	protein-coding gene	gene with protein product		602751				9544839, 9479503	Standard	NR_027655		Approved	BACH-1, BTBD24	uc002ynj.3	O14867	OTTHUMG00000078878	ENST00000399921.1:c.1129G>T	21.37:g.30699274G>T	ENSP00000382805:p.Glu377*		Q3MJE2|Q8NCI5	Nonsense_Mutation	SNP	pfam_BTB_POZ,pfam_bZIP,superfamily_BTB/POZ_fold,superfamily_TF_DNA-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP	p.E377*	ENST00000399921.1	37	c.1129	CCDS13585.1	21	.	.	.	.	.	.	.	.	.	.	G	37	6.111865	0.97291	.	.	ENSG00000156273	ENST00000286800;ENST00000399921	.	.	.	5.65	4.77	0.60923	.	0.398299	0.26532	N	0.023855	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	-15.4244	14.759	0.69590	0.0686:0.0:0.9314:0.0	.	.	.	.	X	377	.	ENSP00000286800:E377X	E	+	1	0	BACH1	29621145	1.000000	0.71417	0.999000	0.59377	0.752000	0.42762	3.102000	0.50291	1.634000	0.50500	0.655000	0.94253	GAA	0	NULL		0.453	BACH1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BACH1	protein_coding	OTTHUMT00000171974.1	32	440	0	0.00	0	0	G	NM_206866	0	0		30699274	1	no_errors	ENST00000286800	ensembl	human	known	74_37	nonsense	22	179	50	56.23	22	230	SNP	0.984	T
BACH1	571	genome.wustl.edu	37	21	30699313	30699313	+	Missense_Mutation	SNP	G	G	C			TCGA-ZB-A969-01A-11D-A428-09	TCGA-ZB-A969-11A-11D-A42B-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f5d0ee62-548f-47f5-a81f-08283357a321	96120df2-4b62-4a53-abbb-2b7564156339	g.chr21:30699313G>C	ENST00000399921.1	+	3	1411	c.1168G>C	c.(1168-1170)Gag>Cag	p.E390Q	BACH1_ENST00000286800.3_Missense_Mutation_p.E390Q	NM_206866.1	NP_996749.1	Q9BX63	FANCJ_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	0	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						GAGTAGTGTGGAGCGAGAAGT	0.468																																							0											0													73.0	68.0	70.0					21																	30699313		2203	4300	6503	SO:0001583	missense	0			AF026200	CCDS13585.1	21q22.1	2013-01-10			ENSG00000156273	ENSG00000156273		"""BTB/POZ domain containing"", ""basic leucine zipper proteins"""	935	protein-coding gene	gene with protein product		602751				9544839, 9479503	Standard	NR_027655		Approved	BACH-1, BTBD24	uc002ynj.3	O14867	OTTHUMG00000078878	ENST00000399921.1:c.1168G>C	21.37:g.30699313G>C	ENSP00000382805:p.Glu390Gln		Q3MJE2|Q8NCI5	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_bZIP,superfamily_BTB/POZ_fold,superfamily_TF_DNA-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP	p.E390Q	ENST00000399921.1	37	c.1168	CCDS13585.1	21	.	.	.	.	.	.	.	.	.	.	G	23.2	4.386830	0.82902	.	.	ENSG00000156273	ENST00000286800;ENST00000399921	T;T	0.79653	-1.29;-1.29	5.38	5.38	0.77491	.	0.000000	0.64402	D	0.000001	D	0.86100	0.5852	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.86463	0.1780	10	0.59425	D	0.04	-33.8485	19.3333	0.94303	0.0:0.0:1.0:0.0	.	390	O14867	BACH1_HUMAN	Q	390	ENSP00000286800:E390Q;ENSP00000382805:E390Q	ENSP00000286800:E390Q	E	+	1	0	BACH1	29621184	1.000000	0.71417	0.992000	0.48379	0.812000	0.45895	8.975000	0.93437	2.793000	0.96121	0.655000	0.94253	GAG	0	NULL		0.468	BACH1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BACH1	protein_coding	OTTHUMT00000171974.1	30	404	0	0.00	0	0	G	NM_206866	0	0		30699313	1	no_errors	ENST00000286800	ensembl	human	known	74_37	missense	13	158	50	55.24	13	195	SNP	1	C
BACH1	571	genome.wustl.edu	37	21	30699589	30699589	+	Missense_Mutation	SNP	G	G	C			TCGA-ZB-A969-01A-11D-A428-09	TCGA-ZB-A969-11A-11D-A42B-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f5d0ee62-548f-47f5-a81f-08283357a321	96120df2-4b62-4a53-abbb-2b7564156339	g.chr21:30699589G>C	ENST00000399921.1	+	3	1687	c.1444G>C	c.(1444-1446)Gat>Cat	p.D482H	BACH1_ENST00000286800.3_Missense_Mutation_p.D482H	NM_206866.1	NP_996749.1	Q9BX63	FANCJ_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	0					DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						TGGAAACGATGATTATGTTTC	0.438																																							0											0													140.0	131.0	134.0					21																	30699589		2203	4300	6503	SO:0001583	missense	0			AF026200	CCDS13585.1	21q22.1	2013-01-10			ENSG00000156273	ENSG00000156273		"""BTB/POZ domain containing"", ""basic leucine zipper proteins"""	935	protein-coding gene	gene with protein product		602751				9544839, 9479503	Standard	NR_027655		Approved	BACH-1, BTBD24	uc002ynj.3	O14867	OTTHUMG00000078878	ENST00000399921.1:c.1444G>C	21.37:g.30699589G>C	ENSP00000382805:p.Asp482His		Q3MJE2|Q8NCI5	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_bZIP,superfamily_BTB/POZ_fold,superfamily_TF_DNA-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP	p.D482H	ENST00000399921.1	37	c.1444	CCDS13585.1	21	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.41|15.41	2.824617|2.824617	0.50739|0.50739	.|.	.|.	ENSG00000156273|ENSG00000156273	ENST00000286800;ENST00000399921|ENST00000422809	T;T|.	0.72051|.	-0.62;-0.62|.	5.48|5.48	4.6|4.6	0.57074|0.57074	.|.	0.330952|.	0.28748|.	N|.	0.014261|.	T|.	0.41396|.	0.1157|.	L|L	0.36672|0.36672	1.1|1.1	0.18873|0.18873	N|N	0.999988|0.999988	P|.	0.50710|.	0.938|.	B|.	0.43360|.	0.417|.	T|.	0.26950|.	-1.0088|.	10|.	0.54805|.	T|.	0.06|.	-5.5341|-5.5341	14.0632|14.0632	0.64812|0.64812	0.0723:0.0:0.9277:0.0|0.0723:0.0:0.9277:0.0	.|.	482|.	O14867|.	BACH1_HUMAN|.	H|S	482|47	ENSP00000286800:D482H;ENSP00000382805:D482H|.	ENSP00000286800:D482H|.	D|X	+|+	1|2	0|2	BACH1|BACH1	29621460|29621460	0.990000|0.990000	0.36364|0.36364	0.006000|0.006000	0.13384|0.13384	0.989000|0.989000	0.77384|0.77384	3.919000|3.919000	0.56439|0.56439	1.310000|1.310000	0.45006|0.45006	0.655000|0.655000	0.94253|0.94253	GAT|TGA	0	NULL		0.438	BACH1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BACH1	protein_coding	OTTHUMT00000171974.1	79	457	0	0.00	0	0	G	NM_206866	0	0		30699589	1	no_errors	ENST00000286800	ensembl	human	known	74_37	missense	30	181	55.22	54.41	37	216	SNP	0.073	C
BACH1	571	genome.wustl.edu	37	21	30699613	30699613	+	Missense_Mutation	SNP	G	G	C			TCGA-ZB-A969-01A-11D-A428-09	TCGA-ZB-A969-11A-11D-A42B-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f5d0ee62-548f-47f5-a81f-08283357a321	96120df2-4b62-4a53-abbb-2b7564156339	g.chr21:30699613G>C	ENST00000399921.1	+	3	1711	c.1468G>C	c.(1468-1470)Gaa>Caa	p.E490Q	BACH1_ENST00000286800.3_Missense_Mutation_p.E490Q	NM_206866.1	NP_996749.1	Q9BX63	FANCJ_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	0					DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						ACCCCAGCAAGAACCTTGCCC	0.443																																							0											0													139.0	129.0	132.0					21																	30699613		2203	4300	6503	SO:0001583	missense	0			AF026200	CCDS13585.1	21q22.1	2013-01-10			ENSG00000156273	ENSG00000156273		"""BTB/POZ domain containing"", ""basic leucine zipper proteins"""	935	protein-coding gene	gene with protein product		602751				9544839, 9479503	Standard	NR_027655		Approved	BACH-1, BTBD24	uc002ynj.3	O14867	OTTHUMG00000078878	ENST00000399921.1:c.1468G>C	21.37:g.30699613G>C	ENSP00000382805:p.Glu490Gln		Q3MJE2|Q8NCI5	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_bZIP,superfamily_BTB/POZ_fold,superfamily_TF_DNA-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP	p.E490Q	ENST00000399921.1	37	c.1468	CCDS13585.1	21	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.2|21.2	4.111445|4.111445	0.77210|0.77210	.|.	.|.	ENSG00000156273|ENSG00000156273	ENST00000286800;ENST00000399921|ENST00000422809	T;T|.	0.72505|.	-0.66;-0.66|.	5.48|5.48	4.57|4.57	0.56435|0.56435	.|.	0.144593|.	0.47455|.	D|.	0.000221|.	T|T	0.57961|0.57961	0.2089|0.2089	L|L	0.36672|0.36672	1.1|1.1	0.39787|0.39787	D|D	0.972384|0.972384	P|.	0.51240|.	0.943|.	P|.	0.52109|.	0.69|.	T|T	0.55879|0.55879	-0.8071|-0.8071	10|5	0.15066|.	T|.	0.55|.	-18.9068|-18.9068	15.6943|15.6943	0.77481|0.77481	0.0:0.0:0.8627:0.1373|0.0:0.0:0.8627:0.1373	.|.	490|.	O14867|.	BACH1_HUMAN|.	Q|T	490|55	ENSP00000286800:E490Q;ENSP00000382805:E490Q|.	ENSP00000286800:E490Q|.	E|R	+|+	1|2	0|0	BACH1|BACH1	29621484|29621484	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.915000|0.915000	0.54546|0.54546	4.648000|4.648000	0.61425|0.61425	2.567000|2.567000	0.86603|0.86603	0.655000|0.655000	0.94253|0.94253	GAA|AGA	0	NULL		0.443	BACH1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BACH1	protein_coding	OTTHUMT00000171974.1	64	487	0	0.00	0	0	G	NM_206866	0	0		30699613	1	no_errors	ENST00000286800	ensembl	human	known	74_37	missense	30	191	51.61	52.58	32	214	SNP	0.996	C
BACH1	571	genome.wustl.edu	37	21	30699649	30699649	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A969-01A-11D-A428-09	TCGA-ZB-A969-11A-11D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f5d0ee62-548f-47f5-a81f-08283357a321	96120df2-4b62-4a53-abbb-2b7564156339	g.chr21:30699649G>A	ENST00000399921.1	+	3	1747	c.1504G>A	c.(1504-1506)Gac>Aac	p.D502N	BACH1_ENST00000286800.3_Missense_Mutation_p.D502N	NM_206866.1	NP_996749.1	Q9BX63	FANCJ_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	0					DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						TAGCTTGGGAGACGACTCTGA	0.428																																							0											0													125.0	113.0	117.0					21																	30699649		2203	4300	6503	SO:0001583	missense	0			AF026200	CCDS13585.1	21q22.1	2013-01-10			ENSG00000156273	ENSG00000156273		"""BTB/POZ domain containing"", ""basic leucine zipper proteins"""	935	protein-coding gene	gene with protein product		602751				9544839, 9479503	Standard	NR_027655		Approved	BACH-1, BTBD24	uc002ynj.3	O14867	OTTHUMG00000078878	ENST00000399921.1:c.1504G>A	21.37:g.30699649G>A	ENSP00000382805:p.Asp502Asn		Q3MJE2|Q8NCI5	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_bZIP,superfamily_BTB/POZ_fold,superfamily_TF_DNA-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP	p.D502N	ENST00000399921.1	37	c.1504	CCDS13585.1	21	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.8|25.8	4.670450|4.670450	0.88348|0.88348	.|.	.|.	ENSG00000156273|ENSG00000156273	ENST00000286800;ENST00000399921|ENST00000422809	T;T|.	0.77620|.	-1.11;-1.11|.	5.48|5.48	5.48|5.48	0.80851|0.80851	.|.	0.298226|.	0.32852|.	N|.	0.005577|.	T|T	0.69637|0.69637	0.3133|0.3133	L|L	0.48642|0.48642	1.525|1.525	0.46396|0.46396	D|D	0.999026|0.999026	P|.	0.46706|.	0.883|.	B|.	0.44224|.	0.444|.	T|T	0.65483|0.65483	-0.6157|-0.6157	10|5	0.62326|.	D|.	0.03|.	-15.6909|-15.6909	19.3624|19.3624	0.94446|0.94446	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	502|.	O14867|.	BACH1_HUMAN|.	N|K	502|67	ENSP00000286800:D502N;ENSP00000382805:D502N|.	ENSP00000286800:D502N|.	D|R	+|+	1|2	0|0	BACH1|BACH1	29621520|29621520	1.000000|1.000000	0.71417|0.71417	0.348000|0.348000	0.25681|0.25681	0.899000|0.899000	0.52679|0.52679	9.434000|9.434000	0.97515|0.97515	2.567000|2.567000	0.86603|0.86603	0.655000|0.655000	0.94253|0.94253	GAC|AGA	0	NULL		0.428	BACH1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BACH1	protein_coding	OTTHUMT00000171974.1	63	472	0	0.21	0	1	G	NM_206866	0	0		30699649	1	no_errors	ENST00000286800	ensembl	human	known	74_37	missense	27	177	51.79	53.91	29	207	SNP	0.995	A
BACH1	571	genome.wustl.edu	37	21	30699664	30699664	+	Missense_Mutation	SNP	G	G	C			TCGA-ZB-A969-01A-11D-A428-09	TCGA-ZB-A969-11A-11D-A42B-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f5d0ee62-548f-47f5-a81f-08283357a321	96120df2-4b62-4a53-abbb-2b7564156339	g.chr21:30699664G>C	ENST00000399921.1	+	3	1762	c.1519G>C	c.(1519-1521)Gac>Cac	p.D507H	BACH1_ENST00000286800.3_Missense_Mutation_p.D507H	NM_206866.1	NP_996749.1	Q9BX63	FANCJ_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	0					DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						CTCTGAGACGGACACCGAAGG	0.418																																							0											0													113.0	102.0	106.0					21																	30699664		2203	4300	6503	SO:0001583	missense	0			AF026200	CCDS13585.1	21q22.1	2013-01-10			ENSG00000156273	ENSG00000156273		"""BTB/POZ domain containing"", ""basic leucine zipper proteins"""	935	protein-coding gene	gene with protein product		602751				9544839, 9479503	Standard	NR_027655		Approved	BACH-1, BTBD24	uc002ynj.3	O14867	OTTHUMG00000078878	ENST00000399921.1:c.1519G>C	21.37:g.30699664G>C	ENSP00000382805:p.Asp507His		Q3MJE2|Q8NCI5	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_bZIP,superfamily_BTB/POZ_fold,superfamily_TF_DNA-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP	p.D507H	ENST00000399921.1	37	c.1519	CCDS13585.1	21	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.9|20.9	4.067086|4.067086	0.76301|0.76301	.|.	.|.	ENSG00000156273|ENSG00000156273	ENST00000286800;ENST00000399921|ENST00000422809	T;T|.	0.73681|.	-0.77;-0.77|.	5.86|5.86	5.86|5.86	0.93980|0.93980	Eukaryotic transcription factor, Skn-1-like, DNA-binding (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73690|0.73690	0.3619|0.3619	L|L	0.56769|0.56769	1.78|1.78	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.79108|.	0.992|.	T|T	0.68922|0.68922	-0.5281|-0.5281	10|5	0.36615|.	T|.	0.2|.	-25.8514|-25.8514	20.2019|20.2019	0.98263|0.98263	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	507|.	O14867|.	BACH1_HUMAN|.	H|A	507|72	ENSP00000286800:D507H;ENSP00000382805:D507H|.	ENSP00000286800:D507H|.	D|G	+|+	1|2	0|0	BACH1|BACH1	29621535|29621535	1.000000|1.000000	0.71417|0.71417	0.822000|0.822000	0.32727|0.32727	0.873000|0.873000	0.50193|0.50193	6.290000|6.290000	0.72712|0.72712	2.776000|2.776000	0.95493|0.95493	0.655000|0.655000	0.94253|0.94253	GAC|GGA	0	NULL		0.418	BACH1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BACH1	protein_coding	OTTHUMT00000171974.1	62	436	0	0.00	0	0	G	NM_206866	0	0		30699664	1	no_errors	ENST00000286800	ensembl	human	known	74_37	missense	25	169	51.85	54.81	28	205	SNP	1	C
BACH1	571	genome.wustl.edu	37	21	30699682	30699682	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A969-01A-11D-A428-09	TCGA-ZB-A969-11A-11D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f5d0ee62-548f-47f5-a81f-08283357a321	96120df2-4b62-4a53-abbb-2b7564156339	g.chr21:30699682G>A	ENST00000399921.1	+	3	1780	c.1537G>A	c.(1537-1539)Gaa>Aaa	p.E513K	BACH1_ENST00000286800.3_Missense_Mutation_p.E513K	NM_206866.1	NP_996749.1	Q9BX63	FANCJ_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	0					DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						AGGAGACAGTGAATCCTGTTC	0.423																																							0											0													100.0	90.0	93.0					21																	30699682		2203	4300	6503	SO:0001583	missense	0			AF026200	CCDS13585.1	21q22.1	2013-01-10			ENSG00000156273	ENSG00000156273		"""BTB/POZ domain containing"", ""basic leucine zipper proteins"""	935	protein-coding gene	gene with protein product		602751				9544839, 9479503	Standard	NR_027655		Approved	BACH-1, BTBD24	uc002ynj.3	O14867	OTTHUMG00000078878	ENST00000399921.1:c.1537G>A	21.37:g.30699682G>A	ENSP00000382805:p.Glu513Lys		Q3MJE2|Q8NCI5	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_bZIP,superfamily_BTB/POZ_fold,superfamily_TF_DNA-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP	p.E513K	ENST00000399921.1	37	c.1537	CCDS13585.1	21	.	.	.	.	.	.	.	.	.	.	G	26.8	4.772077	0.90108	.	.	ENSG00000156273	ENST00000286800;ENST00000399921	T;T	0.77098	-1.07;-1.07	5.86	5.86	0.93980	Eukaryotic transcription factor, Skn-1-like, DNA-binding (2);	0.000000	0.85682	D	0.000000	D	0.83797	0.5332	L	0.49350	1.555	0.48341	D	0.999634	D	0.62365	0.991	P	0.57101	0.813	D	0.84356	0.0535	10	0.72032	D	0.01	-28.3137	20.2019	0.98263	0.0:0.0:1.0:0.0	.	513	O14867	BACH1_HUMAN	K	513	ENSP00000286800:E513K;ENSP00000382805:E513K	ENSP00000286800:E513K	E	+	1	0	BACH1	29621553	1.000000	0.71417	0.991000	0.47740	0.956000	0.61745	7.571000	0.82399	2.776000	0.95493	0.655000	0.94253	GAA	0	superfamily_TF_DNA-bd		0.423	BACH1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BACH1	protein_coding	OTTHUMT00000171974.1	62	415	0	0.24	0	1	G	NM_206866	0	0		30699682	1	no_errors	ENST00000286800	ensembl	human	known	74_37	missense	22	159	59.26	56.52	32	208	SNP	1	A
PDE4B	5142	genome.wustl.edu	37	1	66384467	66384468	+	Frame_Shift_Ins	INS	-	-	AA			TCGA-ZB-A969-01A-11D-A428-09	TCGA-ZB-A969-11A-11D-A42B-09	-	-	-	AA	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f5d0ee62-548f-47f5-a81f-08283357a321	96120df2-4b62-4a53-abbb-2b7564156339	g.chr1:66384467_66384468insAA	ENST00000329654.4	+	3	417_418	c.230_231insAA	c.(229-234)ctgcctfs	p.P78fs	PDE4B_ENST00000371049.3_Frame_Shift_Ins_p.P78fs	NM_001037341.1	NP_001032418.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	78					cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|leukocyte migration (GO:0050900)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|neutrophil homeostasis (GO:0001780)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of high voltage-gated calcium channel activity (GO:1901841)|T cell receptor signaling pathway (GO:0050852)	cell periphery (GO:0071944)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theobromine(DB01412)|Theophylline(DB00277)	CCGACCACACTGCCTTTGACAA	0.436																																							0											0																																										SO:0001589	frameshift_variant	0			L20971	CCDS632.1, CCDS30742.1, CCDS30743.1, CCDS72802.1	1p31	2010-06-24	2010-06-24		ENSG00000184588	ENSG00000184588		"""Phosphodiesterases"""	8781	protein-coding gene	gene with protein product	"""phosphodiesterase E4 dunce homolog (Drosophila)"""	600127	"""phosphodiesterase 4B, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E4)"", ""phosphodiesterase 4B, cAMP-specific (phosphodiesterase E4 dunce homolog, Drosophila)"""	DPDE4			Standard	XM_005270925		Approved		uc001dco.3	Q07343	OTTHUMG00000009088	Exception_encountered	1.37:g.66384467_66384468insAA	ENSP00000332116:p.Pro78fs		A5YW33|O15443|Q13945|Q5TEK4|Q5TEK5|Q5TEK6	Frame_Shift_Ins	INS	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase	p.P78fs	ENST00000329654.4	37	c.230_231	CCDS632.1	1																																																																																			0	NULL		0.436	PDE4B-001	KNOWN	basic|CCDS	protein_coding	PDE4B	protein_coding	OTTHUMT00000025188.3	51	277	0	0.00	0	0	0	NM_002600	0	0		66384468	1	no_errors	ENST00000329654	ensembl	human	known	74_37	frame_shift_ins	42	163	17.65	9.44	9	17	INS	0.973:0.964	AA
DTX3L	151636	genome.wustl.edu	37	3	122288784	122288791	+	Frame_Shift_Del	DEL	TTTCACTG	TTTCACTG	-			TCGA-ZB-A969-01A-11D-A428-09	TCGA-ZB-A969-11A-11D-A42B-09	TTTCACTG	TTTCACTG	TTTCACTG	-	TTTCACTG	TTTCACTG	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f5d0ee62-548f-47f5-a81f-08283357a321	96120df2-4b62-4a53-abbb-2b7564156339	g.chr3:122288784_122288791delTTTCACTG	ENST00000296161.4	+	3	2037_2044	c.1848_1855delTTTCACTG	c.(1846-1857)gttttcactgttfs	p.VFTV616fs	DTX3L_ENST00000383661.3_Intron	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN	deltex 3 like, E3 ubiquitin ligase	616					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone monoubiquitination (GO:0010390)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.V619I(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		GAAGCATGGTTTTCACTGTTTCAAGAGA	0.418																																							0											1	Substitution - Missense(1)	lung(1)																																								SO:0001589	frameshift_variant	0				CCDS3015.1	3q21.1	2014-01-28	2014-01-28		ENSG00000163840	ENSG00000163840		"""RING-type (C3HC4) zinc fingers"""	30323	protein-coding gene	gene with protein product	"""rhysin 2"""	613143	"""deltex 3-like (Drosophila)"""			12670957, 22411408	Standard	NM_138287		Approved	BBAP	uc003efk.3	Q8TDB6	OTTHUMG00000159524	ENST00000296161.4:c.1848_1855delTTTCACTG	3.37:g.122288784_122288791delTTTCACTG	ENSP00000296161:p.Val616fs		B3KWH6|Q53ZZ3|Q5MJP7	Frame_Shift_Del	DEL	smart_Znf_RING,pfscan_Znf_RING	p.T618fs	ENST00000296161.4	37	c.1848_1855	CCDS3015.1	3																																																																																			0	NULL		0.418	DTX3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DTX3L	protein_coding	OTTHUMT00000355966.1	44	350	0	0.00	0	0	TTTCACTG	NM_138287	0	0		122288791	1	no_errors	ENST00000296161	ensembl	human	known	74_37	frame_shift_del	25	161	16.67	10.06	5	18	DEL	0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000	0
WHSC1	7468	genome.wustl.edu	37	4	1980558	1980559	+	Frame_Shift_Ins	INS	-	-	C	rs199956960		TCGA-ZB-A969-01A-11D-A428-09	TCGA-ZB-A969-11A-11D-A42B-09	-	-	-	C	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f5d0ee62-548f-47f5-a81f-08283357a321	96120df2-4b62-4a53-abbb-2b7564156339	g.chr4:1980558_1980559insC	ENST00000382895.3	+	24	4451_4452	c.4020_4021insC	c.(4021-4023)cccfs	p.P1341fs	WHSC1_ENST00000508803.1_Frame_Shift_Ins_p.P1341fs|WHSC1_ENST00000382891.5_Frame_Shift_Ins_p.P1341fs|WHSC1_ENST00000382888.3_Frame_Shift_Ins_p.P689fs|WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000382892.2_Frame_Shift_Ins_p.P1341fs	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	1341					anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		AGACTGAGAAGCCCCCCCCAGA	0.678			T	IGH@	MM																																		0		Dom	yes		4	4p16.3	7468	Wolf-Hirschhorn syndrome candidate 1(MMSET)		L	0									,,,	38,4226		0,38,2094					,,,	-5.1	0.6		dbSNP_126	23	49,8203		0,49,4077	no	frameshift,frameshift,frameshift,frameshift	WHSC1	NM_133335.3,NM_133331.2,NM_133330.2,NM_001042424.2	,,,	0,87,6171	A1A1,A1R,RR		0.5938,0.8912,0.6951	,,,	,,,		87,12429				SO:0001589	frameshift_variant	0			AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"""Zinc fingers, PHD-type"""	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.4028dupC	4.37:g.1980566_1980566dupC	ENSP00000372351:p.Pro1341fs		A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Frame_Shift_Ins	INS	pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,pfam_HMG_box_dom,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_PWWP_dom,smart_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_HMG_box_dom	p.E1343fs	ENST00000382895.3	37	c.4020_4021	CCDS33940.1	4																																																																																			0	NULL		0.678	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	WHSC1	protein_coding	OTTHUMT00000366269.2	19	112	0	1.75	0	2	0	NM_133330	0	0		1980559	1	no_errors	ENST00000382891	ensembl	human	known	74_37	frame_shift_ins	12	47	33.33	36.49	6	27	INS	0.734:0.982	C
MPHOSPH9	10198	genome.wustl.edu	37	12	123706353	123706356	+	Frame_Shift_Del	DEL	TTGT	TTGT	-			TCGA-ZB-A969-01A-11D-A428-09	TCGA-ZB-A969-11A-11D-A42B-09	TTGT	TTGT	TTGT	-	TTGT	TTGT	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f5d0ee62-548f-47f5-a81f-08283357a321	96120df2-4b62-4a53-abbb-2b7564156339	g.chr12:123706353_123706356delTTGT	ENST00000606320.1	-	5	641_644	c.435_438delACAA	c.(433-438)aaacaafs	p.KQ145fs	MPHOSPH9_ENST00000541076.2_Frame_Shift_Del_p.KQ115fs|MPHOSPH9_ENST00000302349.5_5'UTR|MPHOSPH9_ENST00000392425.3_5'UTR|MPHOSPH9_ENST00000539639.1_5'UTR			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	145						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		CCGAAGATACTTGTTTGTTTGAAG	0.348																																							0											0																																										SO:0001589	frameshift_variant	0			X98258	CCDS9243.1, CCDS9243.2	12q24	2008-03-03			ENSG00000051825	ENSG00000051825			7215	protein-coding gene	gene with protein product		605501				8885239	Standard	NM_022782		Approved	MPP9	uc001uel.3	Q99550	OTTHUMG00000168849	ENST00000606320.1:c.435_438delACAA	12.37:g.123706357_123706360delTTGT	ENSP00000475489:p.Lys145fs		A1L486|A6NEE2|B3KR87|Q9H976|U3KQ28	Frame_Shift_Del	DEL	superfamily_Prefoldin	p.Q146fs	ENST00000606320.1	37	c.438_435		12																																																																																			0	NULL		0.348	MPHOSPH9-030	NOVEL	basic	protein_coding	MPHOSPH9	protein_coding	OTTHUMT00000471390.2	74	452	0	0.00	0	0	TTGT		0	0		123706356	-1	no_errors	ENST00000606320	ensembl	human	novel	74_37	frame_shift_del	38	213	35.59	31.29	21	97	DEL	0.000:0.001:0.010:0.006	0
ACSS1	84532	genome.wustl.edu	37	20	25004221	25004231	+	Frame_Shift_Del	DEL	CCACCACGCGC	CCACCACGCGC	-	rs201795021|rs112797917|rs147336539	byFrequency	TCGA-ZB-A969-01A-11D-A428-09	TCGA-ZB-A969-11A-11D-A42B-09	CCACCACGCGC	CCACCACGCGC	CCACCACGCGC	-	CCACCACGCGC	CCACCACGCGC	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f5d0ee62-548f-47f5-a81f-08283357a321	96120df2-4b62-4a53-abbb-2b7564156339	g.chr20:25004221_25004231delCCACCACGCGC	ENST00000323482.4	-	4	757_767	c.678_688delGCGCGTGGTGG	c.(676-690)gggcgcgtggtggagfs	p.RVVE227fs	ACSS1_ENST00000432802.2_Frame_Shift_Del_p.RVVE227fs|ACSS1_ENST00000537502.1_Frame_Shift_Del_p.RVVE144fs|ACSS1_ENST00000542618.1_Frame_Shift_Del_p.RVVE106fs	NM_001252675.1|NM_032501.3	NP_001239604.1|NP_115890.2	Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	227	Coenzyme A binding. {ECO:0000250}.				acetate biosynthetic process (GO:0019413)|acetyl-CoA biosynthetic process (GO:0006085)|acetyl-CoA biosynthetic process from acetate (GO:0019427)|ethanol oxidation (GO:0006069)|propionate biosynthetic process (GO:0019542)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)	acetate-CoA ligase activity (GO:0003987)|AMP binding (GO:0016208)|ATP binding (GO:0005524)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TTCTTCAGCTCCACCACGCGCCCACCCCGGA	0.545																																							0											0																																										SO:0001589	frameshift_variant	0				CCDS13167.1, CCDS58764.1, CCDS58765.1	20p11.23-p11.21	2012-07-13	2005-09-08	2005-09-08	ENSG00000154930	ENSG00000154930	6.2.1.1	"""Acyl-CoA synthetase family"""	16091	protein-coding gene	gene with protein product		614355	"""acetyl-Coenzyme A synthetase 2 (AMP forming)-like"""	ACAS2L			Standard	NM_032501		Approved	dJ568C11.3, AceCS2L, MGC33843	uc002wub.3	Q9NUB1	OTTHUMG00000032112	ENST00000323482.4:c.678_688delGCGCGTGGTGG	20.37:g.25004221_25004231delCCACCACGCGC	ENSP00000316924:p.Arg227fs		B3KXL2|B4DJZ3|D3DW48|F5H6F4|F8W7Y1|Q5TF42|Q8IV99|Q8N234|Q96JI1|Q96JX6|Q9NU28	Frame_Shift_Del	DEL	pfam_AMP-dep_Synth/Lig,tigrfam_Ac_CoA_lig	p.R227fs	ENST00000323482.4	37	c.688_678	CCDS13167.1	20																																																																																			0	pfam_AMP-dep_Synth/Lig,tigrfam_Ac_CoA_lig		0.545	ACSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSS1	protein_coding	OTTHUMT00000078386.2	38	161	0	0.00	0	0	CCACCACGCGC	NM_032501	0	0		25004231	-1	no_errors	ENST00000323482	ensembl	human	known	74_37	frame_shift_del	42	73	8.7	17.05	4	15	DEL	0.988:0.060:0.058:0.015:0.198:0.204:0.106:0.008:0.991:0.993:0.961	0
KRTAP10-6	386674	genome.wustl.edu	37	21	46011494	46011494	+	Missense_Mutation	SNP	G	G	T			TCGA-ZB-A969-01A-11D-A428-09	TCGA-ZB-A969-11A-11D-A42B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5d0ee62-548f-47f5-a81f-08283357a321	96120df2-4b62-4a53-abbb-2b7564156339	g.chr21:46011494G>T	ENST00000400368.1	-	1	892	c.872C>A	c.(871-873)gCt>gAt	p.A291D	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	291	29 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						GGTGCAGCAAGCCGGCTGGCA	0.672																																							0											0													92.0	98.0	96.0					21																	46011494		2203	4300	6503	SO:0001583	missense	0			AB076353	CCDS42959.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000188155	ENSG00000188155		"""Keratin associated proteins"""	20523	protein-coding gene	gene with protein product			"""keratin associated protein 18-6"""	KRTAP18-6			Standard	NM_198688		Approved	KRTAP18.6, KAP18.6, KAP10.6	uc002zfm.3	P60371	OTTHUMG00000057634	ENST00000400368.1:c.872C>A	21.37:g.46011494G>T	ENSP00000383219:p.Ala291Asp			Missense_Mutation	SNP	NULL	p.A291D	ENST00000400368.1	37	c.872	CCDS42959.1	21	.	.	.	.	.	.	.	.	.	.	g	8.985	0.976176	0.18736	.	.	ENSG00000188155	ENST00000400368	T	0.01406	4.93	2.59	-0.835	0.10775	.	.	.	.	.	T	0.02083	0.0065	L	0.58669	1.825	0.09310	N	1	B	0.33266	0.404	B	0.38194	0.267	T	0.41520	-0.9504	9	0.56958	D	0.05	.	3.522	0.07745	0.3877:0.2016:0.4107:0.0	.	291	P60371	KR106_HUMAN	D	291	ENSP00000383219:A291D	ENSP00000383219:A291D	A	-	2	0	KRTAP10-6	44835922	.	.	0.000000	0.03702	0.050000	0.14768	.	.	-0.350000	0.08262	0.194000	0.17425	GCT	0	NULL		0.672	KRTAP10-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP10-6	protein_coding	OTTHUMT00000128037.1	67	10	0	0.00	0	0	G	NM_198688	0	0		46011494	-1	no_errors	ENST00000400368	ensembl	human	known	74_37	missense	37	5	7.5	0.00	3	0	SNP	0	T
RPL29	6159	genome.wustl.edu	37	3	52028090	52028090	+	Frame_Shift_Del	DEL	T	T	-			TCGA-ZB-A969-01A-11D-A428-09	TCGA-ZB-A969-11A-11D-A42B-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5d0ee62-548f-47f5-a81f-08283357a321	96120df2-4b62-4a53-abbb-2b7564156339	g.chr3:52028090delT	ENST00000466397.1	-	4	295	c.155delA	c.(154-156)aagfs	p.K52fs	RPL29_ENST00000294189.6_Frame_Shift_Del_p.K52fs|RPL29_ENST00000479017.1_Frame_Shift_Del_p.K52fs|RPL29_ENST00000475248.1_Frame_Shift_Del_p.K52fs|RPL29_ENST00000495383.1_Frame_Shift_Del_p.K52fs			P47914	RL29_HUMAN	ribosomal protein L29	52					cellular protein metabolic process (GO:0044267)|embryo implantation (GO:0007566)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)	heparin binding (GO:0008201)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CTTTAGGCCCTTTTTGTTGTG	0.537																																							0											0													57.0	65.0	62.0					3																	52028090		2203	4295	6498	SO:0001589	frameshift_variant	0			U10248	CCDS2845.1	3p21.3-p21.2	2013-03-11			ENSG00000162244	ENSG00000162244		"""L ribosomal proteins"""	10331	protein-coding gene	gene with protein product	"""60S ribosomal protein L29"", ""heparin/heparan sulfate-interacting protein"", ""HP/HS-interacting protein"", ""heparin/heparan sulfate-binding protein"", ""cell surface heparin-binding protein HIP"""	601832	"""ribosomal protein L29 pseudogene 10"""	RPL29P10		8597591	Standard	NM_000992		Approved	HIP, HUMRPL29, L29	uc003dcs.3	P47914	OTTHUMG00000155262	ENST00000466397.1:c.155delA	3.37:g.52028090delT	ENSP00000418868:p.Lys52fs		A8K0H3|B2R4M8|Q6IPY3	Frame_Shift_Del	DEL	pfam_Ribosomal_L29e	p.K52fs	ENST00000466397.1	37	c.155	CCDS2845.1	3																																																																																			0	NULL		0.537	RPL29-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RPL29	protein_coding	OTTHUMT00000349680.2	77	5	0	0.00	0	0	T	NM_000992	0	0		52028090	-1	no_errors	ENST00000294189	ensembl	human	known	74_37	frame_shift_del	39	4	7.14	0.00	3	0	DEL	1	0
ATRN	8455	genome.wustl.edu	37	20	3452004	3452006	+	In_Frame_Del	DEL	GCG	GCG	-			TCGA-ZB-A969-01A-11D-A428-09	TCGA-ZB-A969-11A-11D-A42B-09	GCG	GCG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f5d0ee62-548f-47f5-a81f-08283357a321	96120df2-4b62-4a53-abbb-2b7564156339	g.chr20:3452004_3452006delGCG	ENST00000262919.5	+	1	318_320	c.250_252delGCG	c.(250-252)gcgdel	p.A89del	ATRN_ENST00000446916.2_In_Frame_Del_p.A89del	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	89					cerebellum development (GO:0021549)|inflammatory response (GO:0006954)|myelination (GO:0042552)|pigmentation (GO:0043473)|regulation of multicellular organism growth (GO:0040014)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						ggccgaggccgcggcggcggcgg	0.734																																							0											0									,,	16,618		8,0,309					,,	3.7	1.0			1	19,1775		8,3,886	no	coding,coding,intron	ATRN	NM_139322.2,NM_139321.2,NM_001207047.1	,,	16,3,1195	A1A1,A1R,RR		1.0591,2.5237,1.4415	,,	,,		35,2393				SO:0001651	inframe_deletion	0			AF034957	CCDS13053.1, CCDS13054.1	20p13	2008-07-02			ENSG00000088812	ENSG00000088812			885	protein-coding gene	gene with protein product	"""mahogany protein"""	603130				9736737, 8596018	Standard	NM_139321		Approved	DPPT-L, MGCA	uc002wim.2	O75882	OTTHUMG00000031746	ENST00000262919.5:c.250_252delGCG	20.37:g.3452013_3452015delGCG	ENSP00000262919:p.Ala89del		A8KAE5|O60295|O95414|Q3MIT3|Q5TDA2|Q5TDA4|Q5VYW3|Q9NTQ3|Q9NTQ4|Q9NU01|Q9NZ57|Q9NZ58|Q9UC75|Q9UDF5	In_Frame_Del	DEL	pfam_Kelch_1,pfam_Plexin_repeat,pfam_CUB_dom,superfamily_C-type_lectin_fold,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB_dom,smart_Plexin-like_fold,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin	p.A87in_frame_del	ENST00000262919.5	37	c.250_252	CCDS13053.1	20																																																																																			0	NULL		0.734	ATRN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRN	protein_coding	OTTHUMT00000077740.2	10	11	0	0.00	0	0	GCG	NM_139321	0	0		3452006	1	no_errors	ENST00000262919	ensembl	human	known	74_37	in_frame_del	6	4	25	0.00	2	0	DEL	1.000:1.000:1.000	0
