#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ARNT	405	genome.wustl.edu	37	1	150786681	150786681	+	Missense_Mutation	SNP	G	G	T			TCGA-E9-A245-01A-22D-A16D-09	TCGA-E9-A245-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	bdd591f9-21d1-4ce5-bfde-30e7ac3d440a	5238df31-1273-4814-98cc-e8f1c180ee3d	g.chr1:150786681G>T	ENST00000358595.5	-	20	2185	c.1985C>A	c.(1984-1986)aCt>aAt	p.T662N	ARNT_ENST00000505755.1_Missense_Mutation_p.T647N|ARNT_ENST00000515192.1_Missense_Mutation_p.T648N|RNU6-1309P_ENST00000363305.1_RNA|ARNT_ENST00000354396.2_Missense_Mutation_p.T660N	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator	662					cell differentiation (GO:0030154)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor activity (GO:0004874)|aryl hydrocarbon receptor binding (GO:0017162)|enhancer binding (GO:0035326)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			AAACTGGGAAGTACGAGTCTT	0.527			T	ETV6	AML																																	dbGAP		Dom	yes		1	1q21	405	aryl hydrocarbon receptor nuclear translocator		L	0													122.0	109.0	113.0					1																	150786681		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF001307	CCDS970.1, CCDS971.1, CCDS65641.1, CCDS65642.1	1q21	2013-05-21			ENSG00000143437	ENSG00000143437		"""Basic helix-loop-helix proteins"""	700	protein-coding gene	gene with protein product		126110					Standard	NM_001668		Approved	HIF-1beta, bHLHe2	uc001evr.2	P27540	OTTHUMG00000035011	ENST00000358595.5:c.1985C>A	1.37:g.150786681G>T	ENSP00000351407:p.Thr662Asn		B2R9H1|C4AMA1|F8WAP6|Q59ED4|Q5QP39|Q8NDC7	Missense_Mutation	SNP	pfam_PAS_fold_3,pfam_PAS_fold,pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_DNA-bd,prints_Nuc_translocat,tigrfam_PAS	p.T662N	ENST00000358595.5	37	c.1985	CCDS970.1	1	.	.	.	.	.	.	.	.	.	.	G	12.92	2.081366	0.36758	.	.	ENSG00000143437	ENST00000358595;ENST00000354396;ENST00000515192;ENST00000394700;ENST00000505755	T;T;T;T	0.48201	0.82;0.82;0.82;0.82	5.37	5.37	0.77165	.	3.418110	0.00659	N	0.000591	T	0.23094	0.0558	N	0.08118	0	0.26746	N	0.970298	B;B;B;B;B	0.21225	0.025;0.053;0.053;0.053;0.025	B;B;B;B;B	0.22152	0.009;0.038;0.038;0.038;0.015	T	0.48375	-0.9041	10	0.72032	D	0.01	.	19.1026	0.93279	0.0:0.0:1.0:0.0	.	646;660;648;647;662	A8K6P0;F8WAP6;P27540-3;P27540-2;P27540	.;.;.;.;ARNT_HUMAN	N	662;660;648;613;647	ENSP00000351407:T662N;ENSP00000346372:T660N;ENSP00000423851:T648N;ENSP00000427571:T647N	ENSP00000346372:T660N	T	-	2	0	ARNT	149053305	1.000000	0.71417	0.998000	0.56505	0.016000	0.09150	7.132000	0.77251	2.517000	0.84864	0.467000	0.42956	ACT	ARNT	-	NULL	ENSG00000143437		0.527	ARNT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARNT	HGNC	protein_coding	OTTHUMT00000084741.2	38	0.00	0	G			150786681	150786681	-1	no_errors	ENST00000358595	ensembl	human	known	69_37n	missense	36	10.00	4	SNP	0.975	T
ASTE1	28990	genome.wustl.edu	37	3	130733046	130733047	+	Frame_Shift_Ins	INS	-	-	T			TCGA-E9-A245-01A-22D-A16D-09	TCGA-E9-A245-10A-01D-A16D-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	bdd591f9-21d1-4ce5-bfde-30e7ac3d440a	5238df31-1273-4814-98cc-e8f1c180ee3d	g.chr3:130733046_130733047insT	ENST00000264992.3	-	6	2335_2336	c.1894_1895insA	c.(1894-1896)aggfs	p.R632fs	ASTE1_ENST00000514044.1_Frame_Shift_Ins_p.R657fs|ATP2C1_ENST00000513801.1_Intron|ATP2C1_ENST00000393221.4_Intron|ATP2C1_ENST00000533801.2_Intron|ATP2C1_ENST00000504381.1_Intron|ATP2C1_ENST00000359644.3_Intron|ATP2C1_ENST00000507488.2_Intron|ATP2C1_ENST00000328560.8_Intron|ATP2C1_ENST00000422190.2_Intron	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)	632					DNA repair (GO:0006281)		nuclease activity (GO:0004518)	p.R632fs*33(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						TTTCTTCTGCCTTTTTTTTTTT	0.406																																						dbGAP											2	Deletion - Frameshift(2)	ovary(2)																																								-	-	-	SO:0001589	frameshift_variant	0			AF113539	CCDS3068.1, CCDS75007.1	3q21.3	2005-11-17			ENSG00000034533	ENSG00000034533			25021	protein-coding gene	gene with protein product							Standard	NM_014065		Approved	HT001	uc003env.1	Q2TB18	OTTHUMG00000159644	ENST00000264992.3:c.1895dupA	3.37:g.130733057_130733057dupT	ENSP00000264992:p.Arg632fs		B4DFL9|Q3MIB6|Q8N6G4|Q96JY1|Q9UHX6	Frame_Shift_Ins	INS	pfam_XPG_DNA_repair_N	p.R632fs	ENST00000264992.3	37	c.1895_1894	CCDS3068.1	3																																																																																			ASTE1	-	NULL	ENSG00000034533		0.406	ASTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASTE1	HGNC	protein_coding	OTTHUMT00000356659.1	53	0.00	0	-	NM_014065		130733046	130733047	-1	no_errors	ENST00000264992	ensembl	human	known	69_37n	frame_shift_ins	27	15.62	5	INS	0.003:0.014	T
CARTPT	9607	genome.wustl.edu	37	5	71015730	71015732	+	In_Frame_Del	DEL	GAA	GAA	-	rs121909065	byFrequency	TCGA-E9-A245-01A-22D-A16D-09	TCGA-E9-A245-10A-01D-A16D-09	GAA	GAA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	bdd591f9-21d1-4ce5-bfde-30e7ac3d440a	5238df31-1273-4814-98cc-e8f1c180ee3d	g.chr5:71015730_71015732delGAA	ENST00000296777.4	+	2	314_316	c.183_185delGAA	c.(181-186)ttgaag>ttg	p.K63del	CARTPT_ENST00000513096.1_3'UTR	NM_004291.3	NP_004282.1	Q16568	CART_HUMAN	CART prepropeptide	63					activation of MAPKK activity (GO:0000186)|adult feeding behavior (GO:0008343)|cell-cell signaling (GO:0007267)|cellular glucose homeostasis (GO:0001678)|cellular response to starvation (GO:0009267)|circadian regulation of gene expression (GO:0032922)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of appetite (GO:0032099)|negative regulation of bone resorption (GO:0045779)|negative regulation of glucagon secretion (GO:0070093)|negative regulation of osteoclast differentiation (GO:0045671)|neuropeptide signaling pathway (GO:0007218)|positive regulation of blood pressure (GO:0045777)|positive regulation of epinephrine secretion (GO:0032812)|positive regulation of transmission of nerve impulse (GO:0051971)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|somatostatin secretion (GO:0070253)|synaptic transmission (GO:0007268)	extracellular space (GO:0005615)|secretory granule (GO:0030141)				large_intestine(1)|lung(2)|ovary(1)	4		Lung NSC(167;0.00153)|Ovarian(174;0.0175)|Prostate(74;0.11)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;8.4e-56)	Amphetamine(DB00182)	AAGAAGTCTTGAAGAAGCTCAAG	0.542																																						dbGAP											0			GRCh37	CM013060	CARTPT	M	rs121909065																																			-	-	-	SO:0001651	inframe_deletion	0			U16826	CCDS4011.1	5q13.2	2008-02-05			ENSG00000164326	ENSG00000164326			24323	protein-coding gene	gene with protein product	"""cocaine and amphetamine regulated transcript"""	602606				9590691, 8647455	Standard	NM_004291		Approved	CART	uc003kbv.2	Q16568	OTTHUMG00000131261	ENST00000296777.4:c.183_185delGAA	5.37:g.71015733_71015735delGAA	ENSP00000296777:p.Lys63del		Q6FG92	In_Frame_Del	DEL	pfam_CART,superfamily_CART	p.K63in_frame_del	ENST00000296777.4	37	c.183_185	CCDS4011.1	5																																																																																			CARTPT	-	pfam_CART	ENSG00000164326		0.542	CARTPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CARTPT	HGNC	protein_coding	OTTHUMT00000254029.2	44	0.00	0	GAA	NM_004291		71015730	71015732	+1	no_errors	ENST00000296777	ensembl	human	known	69_37n	in_frame_del	24	20.00	6	DEL	1.000:1.000:1.000	-
DLGAP5	9787	genome.wustl.edu	37	14	55647930	55647930	+	Splice_Site	SNP	C	C	A			TCGA-E9-A245-01A-22D-A16D-09	TCGA-E9-A245-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	bdd591f9-21d1-4ce5-bfde-30e7ac3d440a	5238df31-1273-4814-98cc-e8f1c180ee3d	g.chr14:55647930C>A	ENST00000247191.2	-	5	797		c.e5+1		DLGAP5_ENST00000395425.2_Splice_Site	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5						cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|dephosphorylation (GO:0016311)|mitotic chromosome movement towards spindle pole (GO:0007079)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|spindle pole centrosome (GO:0031616)	phosphoprotein phosphatase activity (GO:0004721)			biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						AATATTCCTACCTTTTTTCTC	0.358																																						dbGAP											0													202.0	188.0	193.0					14																	55647930		2202	4299	6501	-	-	-	SO:0001630	splice_region_variant	0			D13633	CCDS9723.1, CCDS53897.1	14q22.3	2008-05-30	2008-05-30	2008-05-30	ENSG00000126787	ENSG00000126787			16864	protein-coding gene	gene with protein product			"""discs, large homolog 7 (Drosophila)"""	DLG7		7584026, 7584028	Standard	NM_014750		Approved	KIAA0008, DLG1, HURP	uc001xbs.3	Q15398	OTTHUMG00000140310	ENST00000247191.2:c.580+1G>T	14.37:g.55647930C>A			A8MTM6|B4DRM8|Q86T11|Q8NG58	Splice_Site	SNP	-	e4+1	ENST00000247191.2	37	c.580+1	CCDS9723.1	14	.	.	.	.	.	.	.	.	.	.	C	17.54	3.414761	0.62511	.	.	ENSG00000126787	ENST00000395425;ENST00000247191;ENST00000557645	.	.	.	4.92	4.92	0.64577	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8312	0.63382	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DLGAP5	54717683	1.000000	0.71417	1.000000	0.80357	0.807000	0.45602	3.356000	0.52269	2.728000	0.93425	0.591000	0.81541	.	DLGAP5	-	-	ENSG00000126787		0.358	DLGAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLGAP5	HGNC	protein_coding	OTTHUMT00000276908.2	216	0.00	0	C	NM_014750	Intron	55647930	55647930	-1	no_errors	ENST00000247191	ensembl	human	known	69_37n	splice_site	97	34.01	50	SNP	1.000	A
DOCK11	139818	genome.wustl.edu	37	X	117722171	117722171	+	Nonsense_Mutation	SNP	G	G	T			TCGA-E9-A245-01A-22D-A16D-09	TCGA-E9-A245-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	bdd591f9-21d1-4ce5-bfde-30e7ac3d440a	5238df31-1273-4814-98cc-e8f1c180ee3d	g.chrX:117722171G>T	ENST00000276202.7	+	17	1930	c.1867G>T	c.(1867-1869)Gaa>Taa	p.E623*	DOCK11_ENST00000276204.6_Nonsense_Mutation_p.E623*	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	623					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						TGTGGAGGTTGAAGAGTTTGT	0.328																																						dbGAP											0													93.0	88.0	90.0					X																	117722171		2201	4298	6499	-	-	-	SO:0001587	stop_gained	0			AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.1867G>T	X.37:g.117722171G>T	ENSP00000276202:p.Glu623*		A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Nonsense_Mutation	SNP	pfam_DOCK,pfam_DUF3398,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.E623*	ENST00000276202.7	37	c.1867	CCDS35373.1	X	.	.	.	.	.	.	.	.	.	.	G	38	7.224847	0.98146	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	.	.	.	5.82	4.93	0.64822	.	0.091827	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	-6.306	14.7747	0.69724	0.0:0.141:0.859:0.0	.	.	.	.	X	623	.	ENSP00000276202:E623X	E	+	1	0	DOCK11	117606199	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	1.168000	0.42723	0.594000	0.82650	GAA	DOCK11	-	NULL	ENSG00000147251		0.328	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	DOCK11	HGNC	protein_coding	OTTHUMT00000356002.1	128	0.00	0	G	NM_144658		117722171	117722171	+1	no_errors	ENST00000276202	ensembl	human	known	69_37n	nonsense	56	42.86	42	SNP	1.000	T
FAM135B	51059	genome.wustl.edu	37	8	139190894	139190894	+	Missense_Mutation	SNP	T	T	C			TCGA-E9-A245-01A-22D-A16D-09	TCGA-E9-A245-10A-01D-A16D-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	bdd591f9-21d1-4ce5-bfde-30e7ac3d440a	5238df31-1273-4814-98cc-e8f1c180ee3d	g.chr8:139190894T>C	ENST00000395297.1	-	10	1083	c.913A>G	c.(913-915)Aag>Gag	p.K305E		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	305										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GCCAGATCCTTGCTTATCTGC	0.512										HNSCC(54;0.14)																												dbGAP											0													142.0	139.0	140.0					8																	139190894		2040	4193	6233	-	-	-	SO:0001583	missense	0			AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.913A>G	8.37:g.139190894T>C	ENSP00000378710:p.Lys305Glu		B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like	p.K305E	ENST00000395297.1	37	c.913	CCDS6375.2	8	.	.	.	.	.	.	.	.	.	.	T	16.01	3.001875	0.54254	.	.	ENSG00000147724	ENST00000395297	T	0.79033	-1.23	5.26	5.26	0.73747	.	0.121926	0.53938	D	0.000056	T	0.78892	0.4355	L	0.56769	1.78	0.32811	D	0.501456	D	0.56521	0.976	P	0.52343	0.696	T	0.79271	-0.1872	10	0.12766	T	0.61	-26.0452	13.4185	0.60982	0.0:0.0:0.0:1.0	.	305	Q49AJ0	F135B_HUMAN	E	305	ENSP00000378710:K305E	ENSP00000276737:K305E	K	-	1	0	FAM135B	139260076	1.000000	0.71417	0.997000	0.53966	0.618000	0.37518	4.198000	0.58419	2.114000	0.64651	0.459000	0.35465	AAG	FAM135B	-	NULL	ENSG00000147724		0.512	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM135B	HGNC	protein_coding	OTTHUMT00000313590.3	61	0.00	0	T	NM_015912		139190894	139190894	-1	no_errors	ENST00000395297	ensembl	human	known	69_37n	missense	57	12.31	8	SNP	0.998	C
ERICH6	131831	genome.wustl.edu	37	3	150421569	150421569	+	Silent	SNP	T	T	C			TCGA-E9-A245-01A-22D-A16D-09	TCGA-E9-A245-10A-01D-A16D-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	bdd591f9-21d1-4ce5-bfde-30e7ac3d440a	5238df31-1273-4814-98cc-e8f1c180ee3d	g.chr3:150421569T>C	ENST00000295910.6	-	1	169	c.117A>G	c.(115-117)gaA>gaG	p.E39E	RP11-103G8.2_ENST00000475393.1_RNA|RP11-103G8.2_ENST00000471093.1_RNA|FAM194A_ENST00000491361.1_Intron	NM_152394.3	NP_689607.2												p.E39E(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						cctccacctcttcctcctcct	0.627																																						dbGAP											1	Substitution - coding silent(1)	prostate(1)											92.0	78.0	83.0					3																	150421569		2203	4298	6501	-	-	-	SO:0001819	synonymous_variant	0																														ENST00000295910.6:c.117A>G	3.37:g.150421569T>C				Silent	SNP	NULL	p.E39	ENST00000295910.6	37	c.117	CCDS3151.2	3																																																																																			FAM194A	-	NULL	ENSG00000163645		0.627	FAM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM194A	HGNC	protein_coding	OTTHUMT00000257666.1	14	0.00	0	T			150421569	150421569	-1	no_errors	ENST00000295910	ensembl	human	known	69_37n	silent	17	34.62	9	SNP	0.000	C
GATA3	2625	genome.wustl.edu	37	10	8115928	8115929	+	Frame_Shift_Ins	INS	-	-	AT			TCGA-E9-A245-01A-22D-A16D-09	TCGA-E9-A245-10A-01D-A16D-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	bdd591f9-21d1-4ce5-bfde-30e7ac3d440a	5238df31-1273-4814-98cc-e8f1c180ee3d	g.chr10:8115928_8115929insAT	ENST00000346208.3	+	6	1729_1730	c.1274_1275insAT	c.(1273-1278)ccatccfs	p.S426fs	GATA3_ENST00000461472.1_3'UTR|GATA3_ENST00000379328.3_Frame_Shift_Ins_p.S427fs			P23771	GATA3_HUMAN	GATA binding protein 3	426					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.S427fs*>20(1)		NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						ATGCACCCGCCATCCAGCCTGT	0.658			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""																															dbGAP		Rec	yes		10	10p15	2625	GATA binding protein 3	yes	E	1	Insertion - Frameshift(1)	breast(1)																																								-	-	-	SO:0001589	frameshift_variant	0			X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"""GATA zinc finger domain containing"""	4172	protein-coding gene	gene with protein product		131320	"""GATA-binding protein 3"""			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.1275_1276dupAT	10.37:g.8115929_8115930dupAT	ENSP00000341619:p.Ser426fs		Q5VWG7|Q5VWG8|Q96J16	Frame_Shift_Ins	INS	pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA	p.S427fs	ENST00000346208.3	37	c.1277_1278	CCDS7083.1	10																																																																																			GATA3	-	pirsf_TF_GATA-1/2/3	ENSG00000107485		0.658	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	GATA3	HGNC	protein_coding	OTTHUMT00000046719.1	41	0.00	0	-	NM_001002295		8115928	8115929	+1	no_errors	ENST00000379328	ensembl	human	known	69_37n	frame_shift_ins	17	29.17	7	INS	0.981:0.204	AT
GLB1	2720	genome.wustl.edu	37	3	33110406	33110406	+	Missense_Mutation	SNP	T	T	C			TCGA-E9-A245-01A-22D-A16D-09	TCGA-E9-A245-10A-01D-A16D-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	bdd591f9-21d1-4ce5-bfde-30e7ac3d440a	5238df31-1273-4814-98cc-e8f1c180ee3d	g.chr3:33110406T>C	ENST00000399402.3	-	3	343	c.212A>G	c.(211-213)gAc>gGc	p.D71G	GLB1_ENST00000307377.8_Intron|GLB1_ENST00000307363.5_Missense_Mutation_p.D101G|GLB1_ENST00000445488.2_Missense_Mutation_p.D149G	NM_001079811.1	NP_001073279	P16278	BGAL_HUMAN	galactosidase, beta 1	101					carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)	beta-galactosidase activity (GO:0004565)|galactoside binding (GO:0016936)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				CACATCATGGTCCTCAGAAAA	0.542																																						dbGAP											0													114.0	114.0	114.0					3																	33110406		1955	4153	6108	-	-	-	SO:0001583	missense	0			M22590	CCDS43061.1, CCDS43062.1, CCDS46785.1	3p22.3	2012-10-02			ENSG00000170266	ENSG00000170266	3.2.1.23		4298	protein-coding gene	gene with protein product		611458	"""elastin receptor 1, 67kDa"", ""elastin receptor 1 (67kD)"""	ELNR1		110522, 3143362	Standard	NM_000404		Approved	EBP	uc003cfi.1	P16278	OTTHUMG00000155781	ENST00000399402.3:c.212A>G	3.37:g.33110406T>C	ENSP00000382333:p.Asp71Gly		B2R7H8|B7Z6B0|P16279	Missense_Mutation	SNP	pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35	p.D149G	ENST00000399402.3	37	c.446	CCDS43062.1	3	.	.	.	.	.	.	.	.	.	.	T	14.01	2.408047	0.42715	.	.	ENSG00000170266	ENST00000399402;ENST00000307363;ENST00000445488;ENST00000450835	D;D;D;D	0.97941	-4.62;-4.62;-4.62;-4.62	4.29	4.29	0.51040	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.197843	0.51477	D	0.000098	D	0.94732	0.8300	L	0.41079	1.255	0.58432	D	0.999999	B;B;B	0.14012	0.002;0.002;0.009	B;B;B	0.19148	0.014;0.014;0.024	D	0.92332	0.5874	10	0.18710	T	0.47	-19.1245	13.2895	0.60262	0.0:0.0:0.0:1.0	.	101;101;149	Q53G40;P16278;B7Z6Q5	.;BGAL_HUMAN;.	G	71;101;149;71	ENSP00000382333:D71G;ENSP00000306920:D101G;ENSP00000393377:D149G;ENSP00000403264:D71G	ENSP00000306920:D101G	D	-	2	0	GLB1	33085410	1.000000	0.71417	0.125000	0.21846	0.934000	0.57294	5.890000	0.69774	1.803000	0.52742	0.533000	0.62120	GAC	GLB1	-	pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF	ENSG00000170266		0.542	GLB1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	GLB1	HGNC	protein_coding	OTTHUMT00000341570.2	47	0.00	0	T	NM_000404		33110406	33110406	-1	no_errors	ENST00000445488	ensembl	human	known	69_37n	missense	32	17.95	7	SNP	0.996	C
IL32	9235	genome.wustl.edu	37	16	3119020	3119020	+	Silent	SNP	A	A	G	rs371244098		TCGA-E9-A245-01A-22D-A16D-09	TCGA-E9-A245-10A-01D-A16D-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	bdd591f9-21d1-4ce5-bfde-30e7ac3d440a	5238df31-1273-4814-98cc-e8f1c180ee3d	g.chr16:3119020A>G	ENST00000534507.1	+	6	580	c.369A>G	c.(367-369)agA>agG	p.R123R	IL32_ENST00000548246.1_Silent_p.R37R|IL32_ENST00000396890.2_Silent_p.R123R|IL32_ENST00000531965.1_Silent_p.R67R|IL32_ENST00000526464.2_Silent_p.R77R|IL32_ENST00000552356.1_Silent_p.R57R|IL32_ENST00000530890.1_Silent_p.R57R|IL32_ENST00000529550.1_Silent_p.R77R|IL32_ENST00000530538.2_Silent_p.R77R|IL32_ENST00000551513.1_Silent_p.R114R|IL32_ENST00000529699.1_Silent_p.R57R|IL32_ENST00000396887.3_Silent_p.R77R|IL32_ENST00000528163.2_Silent_p.R77R|IL32_ENST00000548476.1_Silent_p.R123R|IL32_ENST00000325568.5_Silent_p.R77R|IL32_ENST00000008180.9_Silent_p.R57R|IL32_ENST00000525643.2_Silent_p.R77R|IL32_ENST00000548652.1_Silent_p.R68R|IL32_ENST00000551122.1_Silent_p.R77R|RNU1-125P_ENST00000516752.1_RNA|IL32_ENST00000549213.1_Silent_p.R77R|IL32_ENST00000444393.3_Silent_p.R77R|IL32_ENST00000552936.1_Silent_p.R101R|IL32_ENST00000552664.1_Silent_p.R77R|IL32_ENST00000533097.2_Silent_p.R77R|IL32_ENST00000440815.3_Silent_p.R77R|IL32_ENST00000382213.3_Silent_p.R68R			P24001	IL32_HUMAN	interleukin 32	123					cell adhesion (GO:0007155)|defense response (GO:0006952)|immune response (GO:0006955)	extracellular space (GO:0005615)|membrane (GO:0016020)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						AAAAAGAAAGAGATGGATTAC	0.577																																						dbGAP											0													9.0	12.0	11.0					16																	3119020		2081	4200	6281	-	-	-	SO:0001819	synonymous_variant	0			M59807	CCDS32377.1, CCDS32378.1, CCDS32379.1, CCDS45394.1	16p13.3	2011-07-21			ENSG00000008517	ENSG00000008517		"""Interleukins and interleukin receptors"""	16830	protein-coding gene	gene with protein product	"""natural killer cell transcript 4"""	606001				1729377, 9653642	Standard	XM_005255686		Approved	NK4, TAIF, TAIFb, TAIFd	uc002ctn.3	P24001	OTTHUMG00000167498	ENST00000534507.1:c.369A>G	16.37:g.3119020A>G			A6NNM0|A8MPX0|B4DJM1|B8Q191|D3DUB0|D3DUB2|Q5VFH7|Q5VFH8|Q8WV38|Q96GK9	Silent	SNP	NULL	p.R123	ENST00000534507.1	37	c.369		16																																																																																			IL32	-	NULL	ENSG00000008517		0.577	IL32-002	KNOWN	basic	protein_coding	IL32	HGNC	protein_coding	OTTHUMT00000394812.2	18	0.00	0	A	NM_004221		3119020	3119020	+1	no_errors	ENST00000396890	ensembl	human	known	69_37n	silent	7	36.36	4	SNP	0.000	G
INCA1	388324	genome.wustl.edu	37	17	4892728	4892728	+	Silent	SNP	G	G	T			TCGA-E9-A245-01A-22D-A16D-09	TCGA-E9-A245-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	bdd591f9-21d1-4ce5-bfde-30e7ac3d440a	5238df31-1273-4814-98cc-e8f1c180ee3d	g.chr17:4892728G>T	ENST00000574617.1	-	6	745	c.390C>A	c.(388-390)atC>atA	p.I130I	INCA1_ENST00000575780.1_Silent_p.I115I|RP5-1050D4.4_ENST00000575985.1_RNA|INCA1_ENST00000355025.3_Silent_p.I115I|INCA1_ENST00000396829.2_Silent_p.I130I|INCA1_ENST00000576820.1_Silent_p.I130I|CAMTA2_ENST00000381311.5_5'Flank|CAMTA2_ENST00000358183.4_5'Flank|CAMTA2_ENST00000414043.3_5'Flank|CAMTA2_ENST00000361571.5_5'Flank|CAMTA2_ENST00000572543.1_5'Flank|RP5-1050D4.5_ENST00000574260.1_RNA|CAMTA2_ENST00000348066.3_5'Flank			Q0VD86	INCA1_HUMAN	inhibitor of CDK, cyclin A1 interacting protein 1	130					negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|positive regulation of apoptotic signaling pathway (GO:2001235)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)			upper_aerodigestive_tract(1)	1						CTTACTCGTTGATGATGCTCT	0.572																																						dbGAP											0													124.0	136.0	132.0					17																	4892728		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY601906, AAT09152	CCDS11064.1, CCDS54074.1	17p13.2	2010-03-19	2009-04-20		ENSG00000196388	ENSG00000196388			32224	protein-coding gene	gene with protein product						15159402, 18756329	Standard	NM_213726		Approved		uc002gak.3	Q0VD86		ENST00000574617.1:c.390C>A	17.37:g.4892728G>T			Q6J273|Q6PKN9	Silent	SNP	NULL	p.I130	ENST00000574617.1	37	c.390	CCDS54074.1	17																																																																																			INCA1	-	NULL	ENSG00000196388		0.572	INCA1-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	INCA1	HGNC	protein_coding	OTTHUMT00000438886.1	41	0.00	0	G	NM_213726		4892728	4892728	-1	no_errors	ENST00000396829	ensembl	human	known	69_37n	silent	28	12.50	4	SNP	0.993	T
MUC5B	727897	genome.wustl.edu	37	11	1261520	1261520	+	Silent	SNP	C	C	A	rs201091865	byFrequency	TCGA-E9-A245-01A-22D-A16D-09	TCGA-E9-A245-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	bdd591f9-21d1-4ce5-bfde-30e7ac3d440a	5238df31-1273-4814-98cc-e8f1c180ee3d	g.chr11:1261520C>A	ENST00000529681.1	+	30	3943	c.3885C>A	c.(3883-3885)atC>atA	p.I1295I	MUC5B_ENST00000447027.1_Silent_p.I1298I|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1295					cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACGGCACCATCATCAGGAAGG	0.597																																						dbGAP											0													82.0	94.0	90.0					11																	1261520		2143	4246	6389	-	-	-	SO:0001819	synonymous_variant	0			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.3885C>A	11.37:g.1261520C>A			O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.I1298	ENST00000529681.1	37	c.3894	CCDS44515.2	11																																																																																			MUC5B	-	NULL	ENSG00000117983		0.597	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	16	0.00	0	C	XM_001126093		1261520	1261520	+1	no_errors	ENST00000447027	ensembl	human	known	69_37n	silent	10	37.50	6	SNP	0.007	A
KRTAP5-4	387267	genome.wustl.edu	37	11	1642989	1642989	+	Missense_Mutation	SNP	C	C	A	rs184758001		TCGA-E9-A245-01A-22D-A16D-09	TCGA-E9-A245-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	bdd591f9-21d1-4ce5-bfde-30e7ac3d440a	5238df31-1273-4814-98cc-e8f1c180ee3d	g.chr11:1642989C>A	ENST00000399682.1	-	1	379	c.335G>T	c.(334-336)gGc>gTc	p.G112V		NM_001012709.1	NP_001012727	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	0	9 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)		p.G112V(3)		NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCCACAGGAGCCACAGCCCCC	0.677																																						dbGAP											3	Substitution - Missense(3)	skin(2)|NS(1)											8.0	18.0	15.0					11																	1642989		664	1524	2188	-	-	-	SO:0001583	missense	0			AB126073		11p15.5	2012-04-19			ENSG00000241598	ENSG00000241598		"""Keratin associated proteins"""	23599	protein-coding gene	gene with protein product						15144888	Standard	NM_001012709		Approved	KRTAP5.4	uc009ycy.1	Q6L8H1	OTTHUMG00000057553	ENST00000399682.1:c.335G>T	11.37:g.1642989C>A	ENSP00000382590:p.Gly112Val			Missense_Mutation	SNP	NULL	p.G112V	ENST00000399682.1	37	c.335		11	48	0.02197802197802198	13	0.026422764227642278	8	0.022099447513812154	6	0.01048951048951049	21	0.027704485488126648	C	2.407	-0.336332	0.05278	.	.	ENSG00000241598	ENST00000399682;ENST00000328953	T	0.00760	5.73	3.38	3.38	0.38709	.	.	.	.	.	T	0.01092	0.0036	M	0.76574	2.34	0.42892	D	0.994203	D	0.89917	1.0	D	0.80764	0.994	T	0.60342	-0.7282	9	0.32370	T	0.25	.	12.5747	0.56357	0.0:1.0:0.0:0.0	.	172	Q6L8H1	KRA54_HUMAN	V	112	ENSP00000382590:G112V	ENSP00000331603:G112V	G	-	2	0	KRTAP5-4	1599565	0.183000	0.23186	0.998000	0.56505	0.059000	0.15707	0.616000	0.24344	1.573000	0.49748	0.579000	0.79373	GGC	KRTAP5-4	-	NULL	ENSG00000241598		0.677	KRTAP5-4-001	KNOWN	basic|appris_principal	protein_coding	KRTAP5-4	HGNC	protein_coding	OTTHUMT00000127918.1	39	0.00	0	C	NM_001012709		1642989	1642989	-1	no_errors	ENST00000399682	ensembl	human	known	69_37n	missense	43	20.37	11	SNP	1.000	A
N4BP1	9683	genome.wustl.edu	37	16	48596338	48596338	+	Silent	SNP	G	G	T			TCGA-E9-A245-01A-22D-A16D-09	TCGA-E9-A245-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	bdd591f9-21d1-4ce5-bfde-30e7ac3d440a	5238df31-1273-4814-98cc-e8f1c180ee3d	g.chr16:48596338G>T	ENST00000262384.3	-	2	452	c.216C>A	c.(214-216)atC>atA	p.I72I	RP11-44I10.3_ENST00000563994.1_RNA	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	72					cellular response to UV (GO:0034644)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein ubiquitination (GO:0031397)	nucleolus (GO:0005730)|PML body (GO:0016605)				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				CAGGTTCACAGATTCCTTTAA	0.343																																						dbGAP											0													37.0	37.0	37.0					16																	48596338		1827	4077	5904	-	-	-	SO:0001819	synonymous_variant	0			AK026937	CCDS45479.1	16q12.1	2008-01-18				ENSG00000102921			29850	protein-coding gene	gene with protein product						9734811, 11717310	Standard	NM_153029		Approved		uc002efp.3	O75113		ENST00000262384.3:c.216C>A	16.37:g.48596338G>T			A7MD49|Q2YDX1	Silent	SNP	pfam_RNase_Zc3h12	p.I72	ENST00000262384.3	37	c.216	CCDS45479.1	16																																																																																			N4BP1	-	NULL	ENSG00000102921		0.343	N4BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	N4BP1	HGNC	protein_coding	OTTHUMT00000429920.1	35	0.00	0	G	NM_014664		48596338	48596338	-1	no_errors	ENST00000262384	ensembl	human	known	69_37n	silent	26	13.33	4	SNP	1.000	T
PIP5K1B	8395	genome.wustl.edu	37	9	71509406	71509406	+	Missense_Mutation	SNP	C	C	T			TCGA-E9-A245-01A-22D-A16D-09	TCGA-E9-A245-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	bdd591f9-21d1-4ce5-bfde-30e7ac3d440a	5238df31-1273-4814-98cc-e8f1c180ee3d	g.chr9:71509406C>T	ENST00000265382.3	+	8	928	c.623C>T	c.(622-624)aCg>aTg	p.T208M	PIP5K1B_ENST00000541509.1_Missense_Mutation_p.T208M	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	208	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)|uropod (GO:0001931)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		AAAGGCTCAACGTATAAGCGA	0.418																																						dbGAP											0													100.0	88.0	92.0					9																	71509406		2203	4300	6503	-	-	-	SO:0001583	missense	0			U78579	CCDS6624.1, CCDS65063.1	9q13	2008-02-05			ENSG00000107242	ENSG00000107242			8995	protein-coding gene	gene with protein product		602745				9177790, 8841185	Standard	NM_003558		Approved	STM7, MSS4	uc004agu.4	O14986	OTTHUMG00000019976	ENST00000265382.3:c.623C>T	9.37:g.71509406C>T	ENSP00000265382:p.Thr208Met		A8K9L9|B4DIG7|P78518|P78519|Q5T5K6|Q5T5K8|Q5T5K9|Q5VZ00|Q7KYT5|Q8NHQ5|Q92749	Missense_Mutation	SNP	pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub	p.T248M	ENST00000265382.3	37	c.743	CCDS6624.1	9	.	.	.	.	.	.	.	.	.	.	C	27.3	4.816433	0.90790	.	.	ENSG00000107242	ENST00000541509;ENST00000377290;ENST00000265382;ENST00000419747	T;T	0.33216	1.42;1.42	5.82	5.82	0.92795	Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.63200	0.2491	M	0.85373	2.75	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.67090	-0.5758	10	0.87932	D	0	-3.9391	20.1143	0.97922	0.0:1.0:0.0:0.0	.	208	O14986	PI51B_HUMAN	M	208;208;208;155	ENSP00000438082:T208M;ENSP00000265382:T208M	ENSP00000265382:T208M	T	+	2	0	PIP5K1B	70699226	1.000000	0.71417	0.118000	0.21660	0.918000	0.54935	7.677000	0.84024	2.765000	0.95021	0.650000	0.86243	ACG	PIP5K1B	-	pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub	ENSG00000107242		0.418	PIP5K1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIP5K1B	HGNC	protein_coding	OTTHUMT00000052561.2	37	0.00	0	C	NM_003558		71509406	71509406	+1	no_errors	ENST00000478500	ensembl	human	known	69_37n	missense	10	41.18	7	SNP	0.996	T
SP3	6670	genome.wustl.edu	37	2	174777831	174777831	+	Missense_Mutation	SNP	C	C	A			TCGA-E9-A245-01A-22D-A16D-09	TCGA-E9-A245-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	bdd591f9-21d1-4ce5-bfde-30e7ac3d440a	5238df31-1273-4814-98cc-e8f1c180ee3d	g.chr2:174777831C>A	ENST00000310015.6	-	6	2526	c.1996G>T	c.(1996-1998)Gat>Tat	p.D666Y	SP3_ENST00000418194.2_Missense_Mutation_p.D598Y|SP3_ENST00000455789.2_Missense_Mutation_p.D613Y	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	Sp3 transcription factor	666					B cell differentiation (GO:0030183)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|embryonic skeletal system development (GO:0048706)|enucleate erythrocyte differentiation (GO:0043353)|granulocyte differentiation (GO:0030851)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|monocyte differentiation (GO:0030224)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|T cell differentiation (GO:0030217)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)		EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			TGTAATTCATCACTTCGAGTA	0.393																																						dbGAP											0													106.0	98.0	100.0					2																	174777831		2203	4300	6503	-	-	-	SO:0001583	missense	0			M97191	CCDS2254.1, CCDS46452.1	2q31	2013-01-08			ENSG00000172845	ENSG00000172845		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11208	protein-coding gene	gene with protein product		601804				1341900, 1454515	Standard	NM_003111		Approved	SPR-2	uc002uig.3	Q02447	OTTHUMG00000132333	ENST00000310015.6:c.1996G>T	2.37:g.174777831C>A	ENSP00000310301:p.Asp666Tyr		A0AVL9|B4E2B7|Q69B26|Q69B27|Q8TD56|Q8WWU4|Q9BQR1	Missense_Mutation	SNP	pfam_Znf_C2H2,superfamily_Galactose-bd-like,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D666Y	ENST00000310015.6	37	c.1996	CCDS2254.1	2	.	.	.	.	.	.	.	.	.	.	C	22.2	4.262574	0.80358	.	.	ENSG00000172845	ENST00000310015;ENST00000455789;ENST00000418194	T;T;T	0.37058	1.22;1.22;1.22	5.71	5.71	0.89125	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.42017	0.1184	N	0.04373	-0.215	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.58329	-0.7655	10	0.87932	D	0	.	19.8493	0.96733	0.0:1.0:0.0:0.0	.	663;666;613	B7ZLN9;Q02447;Q02447-6	.;SP3_HUMAN;.	Y	666;613;598	ENSP00000310301:D666Y;ENSP00000388903:D613Y;ENSP00000406140:D598Y	ENSP00000310301:D666Y	D	-	1	0	SP3	174486077	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.701000	0.92244	0.563000	0.77884	GAT	SP3	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000172845		0.393	SP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SP3	HGNC	protein_coding	OTTHUMT00000255452.1	88	0.00	0	C	NM_003111		174777831	174777831	-1	no_errors	ENST00000310015	ensembl	human	known	69_37n	missense	57	14.93	10	SNP	1.000	A
MOAP1	64112	genome.wustl.edu	37	14	93652791	93652791	+	5'Flank	SNP	C	C	T			TCGA-E9-A245-01A-22D-A16D-09	TCGA-E9-A245-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	bdd591f9-21d1-4ce5-bfde-30e7ac3d440a	5238df31-1273-4814-98cc-e8f1c180ee3d	g.chr14:93652791C>T	ENST00000556883.1	-	0	0				RP11-371E8.4_ENST00000557048.1_Intron|TMEM251_ENST00000415050.2_Silent_p.H95H|MOAP1_ENST00000298894.4_5'Flank|RP11-371E8.4_ENST00000557574.1_Silent_p.H57H|TMEM251_ENST00000283534.4_Silent_p.H57H			Q96BY2	MOAP1_HUMAN	modulator of apoptosis 1						apoptotic signaling pathway (GO:0097190)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of apoptotic process (GO:0043065)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:0001844)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	13		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)		CATGGACACACTCCTTGAAAG	0.418																																						dbGAP											0													190.0	188.0	189.0					14																	93652791		1918	4122	6040	-	-	-	SO:0001631	upstream_gene_variant	0			BC015044	CCDS9908.1	14q32.12	2012-02-09			ENSG00000165943	ENSG00000165943		"""Paraneoplastic Ma antigens"""	16658	protein-coding gene	gene with protein product	"""paraneoplastic Ma antigen family member 4"""	609485				11060313	Standard	NM_022151		Approved	MAP-1, PNMA4	uc001ybj.3	Q96BY2	OTTHUMG00000169184		14.37:g.93652791C>T	Exception_encountered		B2RDF6|Q9H833|Q9HAS1	Silent	SNP	NULL	p.H95	ENST00000556883.1	37	c.285	CCDS9908.1	14																																																																																			TMEM251	-	NULL	ENSG00000153485		0.418	MOAP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TMEM251	HGNC	protein_coding	OTTHUMT00000412685.1	173	0.00	0	C			93652791	93652791	+1	no_errors	ENST00000415050	ensembl	human	known	69_37n	silent	92	14.02	15	SNP	1.000	T
VPS13D	55187	genome.wustl.edu	37	1	12409220	12409220	+	Splice_Site	SNP	G	G	A			TCGA-E9-A245-01A-22D-A16D-09	TCGA-E9-A245-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	bdd591f9-21d1-4ce5-bfde-30e7ac3d440a	5238df31-1273-4814-98cc-e8f1c180ee3d	g.chr1:12409220G>A	ENST00000358136.3	+	46	9350		c.e46-1		VPS13D_ENST00000356315.4_Splice_Site	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TTCTGTGGCAGAGCCAGTGGT	0.507																																						dbGAP											0													115.0	109.0	111.0					1																	12409220		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.9221-1G>A	1.37:g.12409220G>A				Splice_Site	SNP	-	e45-1	ENST00000358136.3	37	c.9221-1	CCDS30588.1	1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.733544	0.89482	.	.	ENSG00000048707	ENST00000356315;ENST00000358136;ENST00000011700	.	.	.	6.03	6.03	0.97812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.5666	0.99351	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	VPS13D	12331807	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	9.340000	0.97038	2.854000	0.98071	0.655000	0.94253	.	VPS13D	-	-	ENSG00000048707		0.507	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13D	HGNC	protein_coding	OTTHUMT00000036897.2	48	0.00	0	G	NM_015378	Intron	12409220	12409220	+1	no_errors	ENST00000358136	ensembl	human	known	69_37n	splice_site	32	35.29	18	SNP	1.000	A
ZC3H12A	80149	genome.wustl.edu	37	1	37948869	37948869	+	Missense_Mutation	SNP	C	C	G			TCGA-E9-A245-01A-22D-A16D-09	TCGA-E9-A245-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	bdd591f9-21d1-4ce5-bfde-30e7ac3d440a	5238df31-1273-4814-98cc-e8f1c180ee3d	g.chr1:37948869C>G	ENST00000373087.6	+	6	1573	c.1457C>G	c.(1456-1458)gCc>gGc	p.A486G		NM_025079.2	NP_079355.2			zinc finger CCCH-type containing 12A											NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCCTTCTCTGCCTTTGGCCGG	0.657																																						dbGAP											0													61.0	70.0	67.0					1																	37948869		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS417.1	1p34.3	2012-07-05			ENSG00000163874	ENSG00000163874		"""Zinc fingers, CCCH-type domain containing"""	26259	protein-coding gene	gene with protein product	"""MCP induced protein 1"""	610562				18178554, 22055188	Standard	NM_025079		Approved	FLJ23231, MCPIP1	uc001cbb.4	Q5D1E8	OTTHUMG00000004221	ENST00000373087.6:c.1457C>G	1.37:g.37948869C>G	ENSP00000362179:p.Ala486Gly			Missense_Mutation	SNP	pfam_RNase_Zc3h12	p.A486G	ENST00000373087.6	37	c.1457	CCDS417.1	1	.	.	.	.	.	.	.	.	.	.	C	1.902	-0.452889	0.04540	.	.	ENSG00000163874	ENST00000373087;ENST00000373082	T	0.21932	1.98	5.28	4.35	0.52113	.	0.562695	0.17433	N	0.174406	T	0.18593	0.0446	L	0.41236	1.265	0.09310	N	1	B;B	0.19583	0.037;0.004	B;B	0.22386	0.039;0.002	T	0.12319	-1.0552	10	0.15499	T	0.54	-8.6356	15.0444	0.71816	0.0:0.8205:0.1795:0.0	.	281;486	B3KSD3;Q5D1E8	.;ZC12A_HUMAN	G	486	ENSP00000362179:A486G	ENSP00000362174:A486G	A	+	2	0	ZC3H12A	37721456	0.988000	0.35896	0.036000	0.18154	0.098000	0.18820	2.966000	0.49208	2.451000	0.82905	0.561000	0.74099	GCC	ZC3H12A	-	NULL	ENSG00000163874		0.657	ZC3H12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H12A	HGNC	protein_coding	OTTHUMT00000012154.2	15	0.00	0	C	NM_025079		37948869	37948869	+1	no_errors	ENST00000373082	ensembl	human	known	69_37n	missense	7	50.00	7	SNP	0.028	G
